|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_016335.6(PRODH):c.1562= (p.Arg521=)
|
rs450046
|
0.99713
|
|
NM_000387.6(SLC25A20):c.536-18T>C
|
rs6414612
|
0.99352
|
|
NM_018706.7(DHTKD1):c.1938T>C (p.Phe646=)
|
rs1615510
|
0.99092
|
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
|
NM_018706.7(DHTKD1):c.58T>C (p.Phe20Leu)
|
rs1279138
|
0.96677
|
|
NM_012213.3(MLYCD):c.528+19T>C
|
rs446036
|
0.96188
|
|
NM_018706.7(DHTKD1):c.1911A>C (p.Pro637=)
|
rs1701472
|
0.95314
|
|
NM_001876.4(CPT1A):c.556-16C>T
|
rs3019603
|
0.94412
|
|
NM_153006.3(NAGS):c.1451+9T>C
|
rs228773
|
0.93334
|
|
NM_000191.3(HMGCL):c.654A>G (p.Leu218=)
|
rs719400
|
0.92712
|
|
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
|
NM_000282.4(PCCA):c.914+19A>G
|
rs4306370
|
0.92464
|
|
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=)
|
rs2228502
|
0.92020
|
|
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=)
|
rs7201122
|
0.91794
|
|
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=)
|
rs4846051
|
0.90165
|
|
NM_020166.5(MCCC1):c.396C>T (p.Leu132=)
|
rs7622479
|
0.89165
|
|
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
|
NM_001320298.2(CBS):c.-251G>C
|
rs2850144
|
0.88000
|
|
NM_018706.7(DHTKD1):c.2079C>T (p.Ile693=)
|
rs1722462
|
0.87799
|
|
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)
|
rs12021720
|
0.87100
|
|
NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
|
NM_020686.6(ABAT):c.448-15T>A
|
rs2302608
|
0.86261
|
|
NM_000277.3(PAH):c.1155C>G (p.Leu385=)
|
rs772897
|
0.84953
|
|
NM_004937.3(CTNS):c.779C>T (p.Thr260Ile)
|
rs161400
|
0.84806
|
|
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=)
|
rs10064079
|
0.82429
|
|
NM_000274.4(OAT):c.648+14A>G
|
rs9422807
|
0.81973
|
|
NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)
|
rs8052579
|
0.79247
|
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
|
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=)
|
rs1061040
|
0.77937
|
|
NM_054012.4(ASS1):c.597+18A>G
|
rs652313
|
0.77461
|
|
NM_001271.4(CHD2):c.2049A>G (p.Glu683=)
|
rs4777755
|
0.77324
|
|
NM_001271.4(CHD2):c.2718A>G (p.Gln906=)
|
rs11074121
|
0.75493
|
|
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=)
|
rs3738985
|
0.75388
|
|
NM_000187.4(HGD):c.240A>T (p.Gln80His)
|
rs2255543
|
0.75354
|
|
NM_016335.6(PRODH):c.1741C>T (p.Leu581=)
|
rs372055
|
0.75175
|
|
NM_058179.4(PSAT1):c.741-18T>A
|
rs3780194
|
0.74689
|
|
NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)
|
rs1058180
|
0.72415
|
|
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro)
|
rs7188200
|
0.72412
|
|
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=)
|
rs6500528
|
0.72028
|
|
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=)
|
rs6500527
|
0.72026
|
|
NM_000240.4(MAOA):c.891G>T (p.Arg297=)
|
rs6323
|
0.71997
|
|
NM_003748.4(ALDH4A1):c.1050G>C (p.Ala350=)
|
rs2230705
|
0.71986
|
|
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=)
|
rs7193255
|
0.71937
|
|
NM_001243279.3(ACSF3):c.369C>A (p.Val123=)
|
rs6500529
|
0.71928
|
|
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=)
|
rs6500526
|
0.71888
|
|
NM_032861.4(SERAC1):c.249C>T (p.Asp83=)
|
rs6929274
|
0.71772
|
|
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met)
|
rs3743979
|
0.71214
|
|
NM_003748.4(ALDH4A1):c.1380T>C (p.Asp460=)
|
rs2230708
|
0.71129
|
|
NM_000254.3(MTR):c.3711+15G>T
|
rs3820571
|
0.70934
|
|
NM_025136.4(OPA3):c.231T>C (p.Ala77=)
|
rs3826860
|
0.70508
|
|
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=)
|
rs543703
|
0.69798
|
|
NM_014251.3(SLC25A13):c.328+6A>G
|
rs6957975
|
0.67687
|
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
|
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)
|
rs11559290
|
0.67086
|
|
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=)
|
rs4674
|
0.66668
|
|
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=)
|
rs284652
|
0.66509
|
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
|
NM_001127222.2(CACNA1A):c.2173-12C>T
|
rs16018
|
0.66161
|
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
|
NM_000277.3(PAH):c.696G>A (p.Gln232=)
|
rs1126758
|
0.64991
|
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
|
NM_000126.4(ETFA):c.817-3173C>G
|
rs2456057
|
0.64613
|
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
|
NM_016335.6(PRODH):c.553T>C (p.Trp185Arg)
|
rs4819756
|
0.63786
|
|
NM_003748.4(ALDH4A1):c.1230A>G (p.Ser410=)
|
rs7550938
|
0.63458
|
|
NM_003748.4(ALDH4A1):c.1221A>G (p.Ala407=)
|
rs2230706
|
0.63390
|
|
NM_005957.5(MTHFR):c.*372A>C
|
rs4846049
|
0.62993
|
|
NM_058179.4(PSAT1):c.297T>G (p.Ala99=)
|
rs3739474
|
0.62693
|
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
|
NM_016335.6(PRODH):c.991T>C (p.Leu331=)
|
rs1808320
|
0.62390
|
|
NM_000341.4(SLC3A1):c.1332+7C>T
|
rs3738984
|
0.61143
|
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
|
NM_000017.4(ACADS):c.990C>T (p.Arg330=)
|
rs3915
|
0.59445
|
|
NM_001372123.1(IKZF5):c.-280C>T
|
rs2277250
|
0.59177
|
|
NM_000709.4(BCKDHA):c.376-10A>C
|
rs3213861
|
0.59120
|
|
NC_000011.10:g.2172367C>T
|
rs10770140
|
0.58545
|
|
NM_003060.4(SLC22A5):c.-207C>G
|
rs2631367
|
0.58257
|
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
|
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=)
|
rs1805059
|
0.57983
|
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
|
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=)
|
rs310617
|
0.57688
|
|
NM_000018.4(ACADVL):c.1605+6T>C
|
rs17671352
|
0.56622
|
|
NC_000011.10:g.2172610A>G
|
rs10770141
|
0.56453
|
|
NM_016335.6(PRODH):c.56C>A (p.Pro19Gln)
|
rs2008720
|
0.56125
|
|
NM_001482.3(GATM):c.1252T>C (p.Leu418=)
|
rs1145086
|
0.55793
|
|
NM_006623.4(PHGDH):c.138+2327T>C
|
rs637868
|
0.55284
|
|
NM_000254.3(MTR):c.3576C>T (p.Leu1192=)
|
rs1131449
|
0.54121
|
|
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=)
|
rs8018462
|
0.53238
|
|
NM_020686.6(ABAT):c.167A>G (p.Gln56Arg)
|
rs1731017
|
0.53047
|
|
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)
|
rs1130426
|
0.52772
|
|
NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)
|
rs291466
|
0.52671
|
|
NM_000017.4(ACADS):c.321T>C (p.Arg107=)
|
rs3914
|
0.51709
|
|
NM_020686.6(ABAT):c.169-5T>C
|
rs1641010
|
0.49394
|
|
NM_000531.6(OTC):c.77+3054A>G
|
rs4537439
|
0.48094
|
|
NM_018706.7(DHTKD1):c.814T>G (p.Tyr272Asp)
|
rs3740015
|
0.47407
|
|
NM_015662.3(IFT172):c.1829+12G>A
|
rs1647276
|
0.47329
|
|
NM_003748.4(ALDH4A1):c.1251C>T (p.Ala417=)
|
rs2230707
|
0.47295
|
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
|
NM_000137.4(FAH):c.82-13G>A
|
rs1370275
|
0.45099
|
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44947
|
|
NM_015506.3(MMACHC):c.321G>A (p.Val107=)
|
rs2275276
|
0.43226
|
|
NM_032861.4(SERAC1):c.355+11A>G
|
rs9356399
|
0.42562
|
|
NM_183050.4(BCKDHB):c.197-11G>T
|
rs9448894
|
0.42545
|
|
NM_000360.4(TH):c.1334+127T>C
|
rs2070762
|
0.42406
|
|
NM_000254.3(MTR):c.2474-18T>A
|
rs10925256
|
0.42308
|
|
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=)
|
rs2631365
|
0.42203
|
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
|
NM_004408.4(DNM1):c.1008C>T (p.Phe336=)
|
rs3003609
|
0.41986
|
|
NM_001739.2(CA5A):c.143-9T>A
|
rs12922226
|
0.41434
|
|
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=)
|
rs274558
|
0.39440
|
|
NM_003060.4(SLC22A5):c.824+13T>C
|
rs274557
|
0.39418
|
|
NM_002860.4(ALDH18A1):c.2206+15G>A
|
rs10882640
|
0.39029
|
|
NM_004453.4(ETFDH):c.606+1791G>A
|
rs12644851
|
0.37958
|
|
NM_000277.3(PAH):c.441+47C>T
|
rs1718301
|
0.37849
|
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
|
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=)
|
rs56076827
|
0.37673
|
|
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys)
|
rs4453725
|
0.37294
|
|
NM_000282.4(PCCA):c.1845+10585T>C
|
rs2760311
|
0.35905
|
|
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr)
|
rs2760118
|
0.35507
|
|
NM_000277.3(PAH):c.696= (p.Gln232=)
|
rs1126758
|
0.35009
|
|
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=)
|
rs2301629
|
0.34968
|
|
NM_016335.6(PRODH):c.553= (p.Trp185=)
|
rs4819756
|
0.34949
|
|
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu)
|
rs17849654
|
0.34875
|
|
NM_000254.3(MTR):c.3492C>A (p.Arg1164=)
|
rs12070777
|
0.34762
|
|
NM_000254.3(MTR):c.3144A>G (p.Ala1048=)
|
rs2229276
|
0.34551
|
|
NM_201253.3(CRB1):c.71-12A>T
|
rs12042179
|
0.33853
|
|
NM_000274.4(OAT):c.1134C>T (p.Asn378=)
|
rs11461
|
0.33660
|
|
NM_020686.6(ABAT):c.1381+9T>C
|
rs1079348
|
0.33159
|
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
|
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)
|
rs12648
|
0.32715
|
|
NM_020686.6(ABAT):c.984C>A (p.Val328=)
|
rs1641022
|
0.32625
|
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
|
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala)
|
rs55873785
|
0.31221
|
|
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)
|
rs1802059
|
0.31218
|
|
NM_001918.5(DBT):c.1210-9A>T
|
rs34229137
|
0.31080
|
|
NM_005881.4(BCKDK):c.615G>A (p.Thr205=)
|
rs14235
|
0.30943
|
|
NM_000071.3(CBS):c.1080C>T (p.Ala360=)
|
rs1801181
|
0.30942
|
|
NM_000159.4(GCDH):c.1173G>T (p.Gly391=)
|
rs1060218
|
0.30844
|
|
NM_022132.5(MCCC2):c.904-12A>G
|
rs277984
|
0.30658
|
|
NM_000016.6(ACADM):c.216+10T>C
|
rs2275378
|
0.30596
|
|
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr)
|
rs4148077
|
0.30526
|
|
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)
|
rs3742801
|
0.30506
|
|
NM_006859.4(LIAS):c.884-14T>A
|
rs2125314
|
0.30396
|
|
NM_205861.3(DHDDS):c.757G>A (p.Val253Met)
|
rs3816539
|
0.30121
|
|
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)
|
rs12263012
|
0.30009
|
|
NM_005050.4(ABCD4):c.981C>A (p.Leu327=)
|
rs4148078
|
0.29827
|
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
|
NM_000071.3(CBS):c.699C>T (p.Tyr233=)
|
rs234706
|
0.28613
|
|
NM_000481.4(AMT):c.954G>A (p.Arg318=)
|
rs11715915
|
0.28593
|
|
NM_000320.3(QDPR):c.396G>A (p.Leu132=)
|
rs2597775
|
0.28406
|
|
NM_153006.3(NAGS):c.1096+20C>G
|
rs228771
|
0.28327
|
|
NM_001271.4(CHD2):c.5416A>C (p.Arg1806=)
|
rs12906163
|
0.28315
|
|
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)
|
rs3741056
|
0.27945
|
|
NM_000274.4(OAT):c.199+19C>T
|
rs10794058
|
0.27706
|
|
NM_000360.4(TH):c.977+8C>G
|
rs12419447
|
0.27597
|
|
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
|
NM_000254.3(MTR):c.2594+15T>C
|
rs1770449
|
0.27320
|
|
NM_032601.4(MCEE):c.227C>T (p.Ala76Val)
|
rs11541017
|
0.26738
|
|
NM_000531.6(OTC):c.137A>G (p.Lys46Arg)
|
rs1800321
|
0.26575
|
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
|
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser)
|
rs2298014
|
0.25152
|
|
NM_001080.3(ALDH5A1):c.726+8G>A
|
rs2817220
|
0.25132
|
|
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=)
|
rs12447947
|
0.24857
|
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
|
NM_000360.4(TH):c.720G>A (p.Lys240=)
|
rs6357
|
0.23916
|
|
NM_000016.6(ACADM):c.1161A>G (p.Val387=)
|
rs1061337
|
0.23824
|
|
NM_001271.4(CHD2):c.3564C>T (p.Tyr1188=)
|
rs2272457
|
0.23362
|
|
NM_000277.3(PAH):c.353-22C>T
|
rs2037639
|
0.23047
|
|
NM_005957.5(MTHFR):c.1632+35G>A
|
rs1476413
|
0.22803
|
|
NM_001609.4(ACADSB):c.639C>T (p.His213=)
|
rs1140591
|
0.22709
|
|
NM_000170.3(GLDC):c.501G>A (p.Glu167=)
|
rs35374927
|
0.22564
|
|
NM_016335.6(PRODH):c.1623C>T (p.Ala541=)
|
rs16983347
|
0.22137
|
|
NM_000161.3(GCH1):c.*243C>T
|
rs841
|
0.22091
|
|
NM_000276.4(OCRL):c.199+16C>G
|
rs5977104
|
0.21795
|
|
NM_000170.3(GLDC):c.249G>A (p.Gly83=)
|
rs12341698
|
0.21682
|
|
NM_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
|
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)
|
rs1805087
|
0.21137
|
|
NM_000026.2(ADSL):c.-146C>T
|
rs909669
|
0.21102
|
|
NC_000022.11:g.40345499dup
|
rs112981874
|
0.21041
|
|
NM_002454.3(MTRR):c.537T>C (p.Leu179=)
|
rs161870
|
0.20980
|
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
|
NC_000022.11:g.40345636C>T
|
rs2006965
|
0.20781
|
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
|
NM_016335.6(PRODH):c.1278C>T (p.Asp426=)
|
rs16983466
|
0.20443
|
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
|
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=)
|
rs1805061
|
0.18661
|
|
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)
|
rs10380
|
0.18188
|
|
NM_000240.4(MAOA):c.385A>C (p.Arg129=)
|
rs1800464
|
0.17743
|
|
NM_000360.4(TH):c.312+289G>C
|
rs7482510
|
0.17720
|
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
|
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu)
|
rs6748672
|
0.17242
|
|
NM_000182.5(HADHA):c.474C>T (p.Tyr158=)
|
rs11552518
|
0.16973
|
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
|
NM_000353.3(TAT):c.43C>T (p.Pro15Ser)
|
rs74344827
|
0.16727
|
|
NM_001739.2(CA5A):c.807A>T (p.Ala269=)
|
rs72816311
|
0.16645
|
|
NM_153006.3(NAGS):c.1086T>C (p.Phe362=)
|
rs55708447
|
0.16339
|
|
NM_001127222.2(CACNA1A):c.5401-14C>T
|
rs16042
|
0.16269
|
|
NM_001739.2(CA5A):c.453C>T (p.Pro151=)
|
rs7186698
|
0.16216
|
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
|
NM_016579.4(CD320):c.23A>G (p.Gln8Arg)
|
rs2232775
|
0.15598
|
|
NM_000532.5(PCCB):c.654+20T>C
|
rs3821445
|
0.15527
|
|
NM_000254.3(MTR):c.3712-8T>C
|
rs12022937
|
0.15072
|
|
NM_000277.3(PAH):c.1155= (p.Leu385=)
|
rs772897
|
0.15047
|
|
NM_000531.6(OTC):c.299-8T>A
|
rs73196229
|
0.15031
|
|
NM_004937.3(CTNS):c.504G>A (p.Thr168=)
|
rs1800528
|
0.14800
|
|
NM_000126.4(ETFA):c.39+12C>G
|
rs62027051
|
0.14273
|
|
NM_000282.4(PCCA):c.627A>G (p.Ala209=)
|
rs538229
|
0.14245
|
|
NM_016335.6(PRODH):c.88C>T (p.Pro30Ser)
|
rs3815655
|
0.14238
|
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
|
NM_000554.6(CRX):c.100+12C>T
|
rs62128766
|
0.14108
|
|
NM_001024845.3(SLC6A9):c.807C>T (p.Asp269=)
|
rs2248829
|
0.13947
|
|
NM_005327.7(HADH):c.257= (p.Leu86=)
|
rs4956145
|
0.13339
|
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
|
NM_001918.5(DBT):c.1150= (p.Ser384=)
|
rs12021720
|
0.12900
|
|
NM_002150.3(HPD):c.94-6A>T
|
rs2707072
|
0.12768
|
|
NM_005957.5(MTHFR):c.587-1332C>T
|
rs17421511
|
0.12385
|
|
NM_054012.4(ASS1):c.501C>T (p.His167=)
|
rs10901072
|
0.12154
|
|
NM_016579.4(CD320):c.268+19T>G
|
rs2232780
|
0.12049
|
|
NM_016579.4(CD320):c.447G>T (p.Thr149=)
|
rs2232783
|
0.12037
|
|
NM_016579.4(CD320):c.483C>T (p.Ser161=)
|
rs2232784
|
0.12037
|
|
NM_016579.4(CD320):c.658G>A (p.Gly220Arg)
|
rs2336573
|
0.12012
|
|
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=)
|
rs9577152
|
0.11997
|
|
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016
|
0.11927
|
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
|
NM_001698.3(AUH):c.483A>C (p.Ile161=)
|
rs7874056
|
0.11827
|
|
NM_002150.3(HPD):c.97= (p.Thr33=)
|
rs1154510
|
0.11778
|
|
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312
|
0.11757
|
|
NM_000687.4(AHCY):c.973-7C>T
|
rs17091705
|
0.11442
|
|
NM_000687.4(AHCY):c.767-37C>G
|
rs7271501
|
0.11434
|
|
NM_004408.4(DNM1):c.312G>A (p.Glu104=)
|
rs2229917
|
0.11354
|
|
NM_016579.4(CD320):c.837C>G (p.Thr279=)
|
rs2227289
|
0.11348
|
|
NM_016335.6(PRODH):c.1440C>T (p.Tyr480=)
|
rs5992333
|
0.11200
|
|
NM_003748.4(ALDH4A1):c.1408G>A (p.Val470Ile)
|
rs2230709
|
0.11004
|
|
NM_000317.3(PTS):c.163+14T>C
|
rs3819331
|
0.10984
|
|
NM_001958.5(EEF1A2):c.480G>A (p.Pro160=)
|
rs2274860
|
0.10978
|
|
NM_003042.4(SLC6A1):c.1695+16C>G
|
rs35957531
|
0.10817
|
|
NM_054012.4(ASS1):c.876T>C (p.His292=)
|
rs1057484
|
0.10667
|
|
NM_016335.6(PRODH):c.216G>C (p.Arg72=)
|
rs1808323
|
0.10388
|
|
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)
|
rs2275272
|
0.10214
|
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
|
NM_005957.5(MTHFR):c.1056C>T (p.Ser352=)
|
rs2066462
|
0.09546
|
|
NM_020686.6(ABAT):c.309C>T (p.Val103=)
|
rs2229157
|
0.09544
|
|
NM_001258392.3(CLPB):c.840A>G (p.Glu280=)
|
rs36049191
|
0.09452
|
|
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu)
|
rs143793502
|
0.09373
|
|
NM_177550.5(SLC13A5):c.1092C>T (p.Ala364=)
|
rs55698160
|
0.09334
|
|
NM_016335.6(PRODH):c.273+4C>T
|
rs3815653
|
0.09139
|
|
NM_005957.5(MTHFR):c.117C>T (p.Pro39=)
|
rs2066470
|
0.09092
|
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
|
NM_016579.4(CD320):c.707-15A>T
|
rs250511
|
0.08768
|
|
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
|
NM_001876.4(CPT1A):c.963G>A (p.Glu321=)
|
rs2229737
|
0.08543
|
|
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=)
|
rs41396747
|
0.08535
|
|
NM_001698.3(AUH):c.331-6G>A
|
rs10991898
|
0.08502
|
|
NM_001876.4(CPT1A):c.968-8C>T
|
rs2305507
|
0.08414
|
|
NM_004408.4(DNM1):c.1062C>T (p.Tyr354=)
|
rs35048348
|
0.08186
|
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
|
NM_001876.4(CPT1A):c.1251= (p.Phe417=)
|
rs2228502
|
0.07980
|
|
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His)
|
rs11549936
|
0.07892
|
|
NM_172250.3(MMAA):c.747G>A (p.Ser249=)
|
rs11721553
|
0.07844
|
|
NM_018706.7(DHTKD1):c.2320-4G>A
|
rs12416681
|
0.07832
|
|
NM_018706.7(DHTKD1):c.951C>T (p.Asn317=)
|
rs3740016
|
0.07832
|
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
|
NM_000137.4(FAH):c.267G>C (p.Leu89=)
|
rs33929922
|
0.07529
|
|
NM_201253.3(CRB1):c.1410= (p.Leu470=)
|
rs3902057
|
0.07472
|
|
NM_012213.3(MLYCD):c.642-5C>T
|
rs2278037
|
0.07436
|
|
NM_012213.3(MLYCD):c.642-12A>T
|
rs2278036
|
0.07434
|
|
NM_000353.3(TAT):c.309G>A (p.Ser103=)
|
rs78302875
|
0.07372
|
|
NM_020686.6(ABAT):c.1270-4A>G
|
rs12447235
|
0.07354
|
|
NM_001080.3(ALDH5A1):c.1402+7G>A
|
rs12211574
|
0.07141
|
|
NM_000170.3(GLDC):c.660C>T (p.Leu220=)
|
rs2228095
|
0.07130
|
|
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)
|
rs58272575
|
0.07062
|
|
NM_201253.3(CRB1):c.*28T>C
|
rs41302107
|
0.07060
|
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
|
NC_000005.10:g.132369028T>G
|
rs34786243
|
0.06993
|
|
NM_005050.4(ABCD4):c.1560-12A>C
|
rs74061802
|
0.06985
|
|
NM_005050.4(ABCD4):c.668+7C>T
|
rs61757464
|
0.06982
|
|
NM_005050.4(ABCD4):c.1636+10C>T
|
rs74061801
|
0.06981
|
|
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)
|
rs61744947
|
0.06981
|
|
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)
|
rs57773157
|
0.06977
|
|
NM_005050.4(ABCD4):c.492C>G (p.Leu164=)
|
rs36031534
|
0.06974
|
|
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=)
|
rs11845976
|
0.06972
|
|
NM_005050.4(ABCD4):c.815-13G>C
|
rs74063815
|
0.06964
|
|
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=)
|
rs1052000
|
0.06963
|
|
NM_016335.6(PRODH):c.1292G>A (p.Arg431His)
|
rs2904552
|
0.06735
|
|
NM_177550.5(SLC13A5):c.1005C>T (p.Pro335=)
|
rs56224509
|
0.06724
|
|
NM_012213.3(MLYCD):c.529-8C>T
|
rs3815806
|
0.06693
|
|
NM_000320.3(QDPR):c.345G>A (p.Ser115=)
|
rs3733570
|
0.06567
|
|
NM_003748.4(ALDH4A1):c.1417A>G (p.Thr473Ala)
|
rs6695033
|
0.06532
|
|
NM_000170.3(GLDC):c.438G>A (p.Thr146=)
|
rs13289273
|
0.06458
|
|
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)
|
rs1801591
|
0.06414
|
|
NM_003748.4(ALDH4A1):c.1548C>T (p.Gly516=)
|
rs61749348
|
0.06385
|
|
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)
|
rs34992370
|
0.06330
|
|
NM_001609.4(ACADSB):c.946A>G (p.Ile316Val)
|
rs1131430
|
0.06319
|
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
|
NM_000137.4(FAH):c.1056C>T (p.Ser352=)
|
rs1801374
|
0.06041
|
|
NM_004483.5(GCSH):c.159C>T (p.Phe53=)
|
rs8177876
|
0.05863
|
|
NM_000531.6(OTC):c.718-14T>C
|
rs55722856
|
0.05854
|
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
|
NM_006859.4(LIAS):c.507A>G (p.Glu169=)
|
rs35086467
|
0.05609
|
|
NM_016335.6(PRODH):c.1414G>A (p.Ala472Thr)
|
rs2870983
|
0.05529
|
|
NM_000254.3(MTR):c.340-6C>T
|
rs7526063
|
0.05512
|
|
NM_004937.3(CTNS):c.462T>C (p.Ser154=)
|
rs77453839
|
0.05257
|
|
NM_000016.6(ACADM):c.119-20T>C
|
rs74090724
|
0.05208
|
|
NM_000016.6(ACADM):c.351A>C (p.Thr117=)
|
rs74090726
|
0.05204
|
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
|
NM_014384.3(ACAD8):c.841+7T>C
|
rs77368661
|
0.04943
|
|
NM_001024845.3(SLC6A9):c.1435+18C>T
|
rs76038188
|
0.04923
|
|
NM_054012.4(ASS1):c.597+8C>T
|
rs77343702
|
0.04911
|
|
NM_001958.5(EEF1A2):c.1029+12C>T
|
rs45510898
|
0.04910
|
|
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)
|
rs2270655
|
0.04892
|
|
NM_001080.3(ALDH5A1):c.610-5C>T
|
rs76752785
|
0.04857
|
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
|
NM_014384.3(ACAD8):c.1195+12C>T
|
rs75333832
|
0.04799
|
|
NM_001918.5(DBT):c.1210-10T>A
|
rs183058253
|
0.04736
|
|
NM_000137.4(FAH):c.1180+4A>G
|
rs60585303
|
0.04595
|
|
NM_012213.3(MLYCD):c.732G>A (p.Ser244=)
|
rs2278038
|
0.04474
|
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
|
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=)
|
rs34315566
|
0.04350
|
|
NM_016579.4(CD320):c.142+10G>C
|
rs2232776
|
0.04348
|
|
NM_032861.4(SERAC1):c.1016-11C>T
|
rs41269577
|
0.04319
|
|
NM_000048.4(ASL):c.602+13C>T
|
rs12536292
|
0.04315
|
|
NM_001958.5(EEF1A2):c.1326G>A (p.Glu442=)
|
rs1042796
|
0.04304
|
|
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)
|
rs2287780
|
0.04230
|
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
|
NM_005327.7(HADH):c.636+13G>A
|
rs17511214
|
0.04139
|
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
|
NM_001278293.3(ARL6):c.186-18T>C
|
rs77906443
|
0.04049
|
|
NM_000353.3(TAT):c.1173G>A (p.Glu391=)
|
rs16973331
|
0.04038
|
|
NM_000170.3(GLDC):c.1384C>G (p.Leu462Val)
|
rs73400312
|
0.04004
|
|
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln)
|
rs2274976
|
0.03996
|
|
NM_004483.5(GCSH):c.252T>C (p.Tyr84=)
|
rs8177907
|
0.03948
|
|
NM_004483.5(GCSH):c.261C>G (p.Leu87=)
|
rs8177908
|
0.03948
|
|
NM_000360.4(TH):c.210T>C (p.Ala70=)
|
rs7950050
|
0.03941
|
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
|
NM_000156.6(GAMT):c.571-6G>A
|
rs2074899
|
0.03927
|
|
NM_000317.3(PTS):c.405T>C (p.Thr135=)
|
rs59731976
|
0.03898
|
|
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)
|
rs16879334
|
0.03856
|
|
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro)
|
rs11547019
|
0.03850
|
|
NM_016335.6(PRODH):c.1279G>A (p.Val427Met)
|
rs2238731
|
0.03801
|
|
NM_000187.4(HGD):c.879+18A>G
|
rs1800700
|
0.03754
|
|
NM_003748.4(ALDH4A1):c.250-17C>T
|
rs9426718
|
0.03729
|
|
NM_001127222.2(CACNA1A):c.1782-20C>T
|
rs73513425
|
0.03727
|
|
NM_004483.5(GCSH):c.218A>G (p.Asn73Ser)
|
rs8177877
|
0.03699
|
|
NC_000001.11:g.11806126C>T
|
rs13306560
|
0.03691
|
|
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011
|
0.03687
|
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
|
NM_012213.3(MLYCD):c.444C>T (p.Asp148=)
|
rs62640904
|
0.03566
|
|
NM_001958.5(EEF1A2):c.207C>T (p.Arg69=)
|
rs3818681
|
0.03482
|
|
NM_000320.3(QDPR):c.255C>T (p.Cys85=)
|
rs12645938
|
0.03464
|
|
NC_000022.11:g.40345817G>C
|
rs9611320
|
0.03462
|
|
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu)
|
rs28934585
|
0.03462
|
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
|
NM_001918.5(DBT):c.715A>G (p.Ile239Val)
|
rs72973763
|
0.03442
|
|
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)
|
rs11541780
|
0.03433
|
|
NM_001243279.3(ACSF3):c.667-12C>T
|
rs72817437
|
0.03381
|
|
NM_004483.5(GCSH):c.90C>G (p.Pro30=)
|
rs8177847
|
0.03370
|
|
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys)
|
rs74041853
|
0.03363
|
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
|
NM_004937.3(CTNS):c.970+15G>A
|
rs76153698
|
0.03340
|
|
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)
|
rs1051151
|
0.03295
|
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
|
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=)
|
rs8016634
|
0.03113
|
|
NM_020686.6(ABAT):c.129G>A (p.Gly43=)
|
rs2228081
|
0.03085
|
|
NM_000329.3(RPE65):c.1338+20A>C
|
rs12564647
|
0.03055
|
|
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)
|
rs2303080
|
0.03048
|
|
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly)
|
rs138107830
|
0.03048
|
|
NM_002454.3(MTRR):c.1676+20A>G
|
rs2303082
|
0.03042
|
|
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)
|
rs1804934
|
0.02975
|
|
NM_005334.3(HCFC1):c.1605+20G>T
|
rs1002679
|
0.02967
|
|
NM_016335.6(PRODH):c.172G>A (p.Ala58Thr)
|
rs146648839
|
0.02924
|
|
NM_020686.6(ABAT):c.1147C>T (p.Leu383=)
|
rs2229158
|
0.02911
|
|
NM_000709.4(BCKDHA):c.1260C>T (p.Leu420=)
|
rs34492894
|
0.02893
|
|
NM_003060.4(SLC22A5):c.393+17G>A
|
rs11568522
|
0.02888
|
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
|
NM_016335.6(PRODH):c.1362G>A (p.Ala454=)
|
rs2238730
|
0.02855
|
|
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala)
|
rs62640903
|
0.02854
|
|
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
|
rs6662272
|
0.02835
|
|
NM_018706.7(DHTKD1):c.2048-12G>T
|
rs76263909
|
0.02794
|
|
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp)
|
rs2230178
|
0.02763
|
|
NM_000709.4(BCKDHA):c.996-6G>A
|
rs74586298
|
0.02713
|
|
NM_000360.4(TH):c.186G>A (p.Ser62=)
|
rs34510659
|
0.02696
|
|
NM_032861.4(SERAC1):c.1403+12G>A
|
rs117813106
|
0.02692
|
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
|
NM_004975.4(KCNB1):c.198C>T (p.His66=)
|
rs520282
|
0.02665
|
|
NM_014251.3(SLC25A13):c.1884C>T (p.Asn628=)
|
rs35539807
|
0.02629
|
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
|
NM_000554.6(CRX):c.472G>A (p.Ala158Thr)
|
rs61748445
|
0.02598
|
|
NM_018706.7(DHTKD1):c.1560C>T (p.Thr520=)
|
rs35537424
|
0.02598
|
|
NM_006859.4(LIAS):c.737+13A>T
|
rs79572060
|
0.02580
|
|
NM_006859.4(LIAS):c.306C>A (p.Leu102=)
|
rs61731032
|
0.02579
|
|
NM_000170.3(GLDC):c.666T>C (p.Asp222=)
|
rs12004164
|
0.02547
|
|
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu)
|
rs3765310
|
0.02518
|
|
NM_004975.4(KCNB1):c.2473C>T (p.Pro825Ser)
|
rs34467662
|
0.02504
|
|
NM_003748.4(ALDH4A1):c.47C>T (p.Pro16Leu)
|
rs146450609
|
0.02500
|
|
NM_001243279.3(ACSF3):c.1367-13C>G
|
rs140859425
|
0.02493
|
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
|
NM_014362.4(HIBCH):c.517+15T>A
|
rs291417
|
0.02472
|
|
NM_000187.4(HGD):c.1191A>C (p.Ala397=)
|
rs137923025
|
0.02463
|
|
NM_152542.5(PPM1K):c.978G>A (p.Val326=)
|
rs34981823
|
0.02463
|
|
NM_032601.4(MCEE):c.428G>A (p.Arg143His)
|
rs115175255
|
0.02453
|
|
NM_000170.3(GLDC):c.1482+19T>C
|
rs79114789
|
0.02433
|
|
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys)
|
rs77325391
|
0.02424
|
|
NM_001080.3(ALDH5A1):c.106G>C (p.Gly36Arg)
|
rs4646832
|
0.02421
|
|
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=)
|
rs8064573
|
0.02419
|
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
|
NM_177550.5(SLC13A5):c.369-14C>T
|
rs218677
|
0.02396
|
|
NM_001127222.2(CACNA1A):c.1781+18C>A
|
rs16013
|
0.02392
|
|
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala)
|
rs56227200
|
0.02390
|
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
|
NM_015662.3(IFT172):c.337-12C>T
|
rs79529534
|
0.02365
|
|
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)
|
rs11568525
|
0.02345
|
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
|
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys)
|
rs74637005
|
0.02312
|
|
NM_000182.5(HADHA):c.1392+10G>A
|
rs60085478
|
0.02277
|
|
NM_002150.3(HPD):c.338G>A (p.Arg113Gln)
|
rs11833399
|
0.02263
|
|
NC_000022.11:g.40345516C>T
|
rs751367
|
0.02252
|
|
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=)
|
rs75591977
|
0.02239
|
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
|
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)
|
rs41291566
|
0.02201
|
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
|
NM_002225.5(IVD):c.1066-5C>T
|
rs115077254
|
0.02192
|
|
NM_000187.4(HGD):c.372C>T (p.Asp124=)
|
rs140977117
|
0.02164
|
|
NM_001876.4(CPT1A):c.240G>A (p.Ser80=)
|
rs61731904
|
0.02145
|
|
NM_000016.6(ACADM):c.489T>G (p.Pro163=)
|
rs78392995
|
0.02136
|
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
|
NM_177550.5(SLC13A5):c.716+11G>C
|
rs7215596
|
0.02122
|
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
|
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile)
|
rs112780453
|
0.02065
|
|
NM_001875.5(CPS1):c.2830-18A>G
|
rs116664530
|
0.02055
|
|
NM_016335.6(PRODH):c.1374C>A (p.Gly458=)
|
rs2904550
|
0.02048
|
|
NM_003042.4(SLC6A1):c.780G>A (p.Thr260=)
|
rs33948309
|
0.02040
|
|
NM_054012.4(ASS1):c.688+4T>C
|
rs78432485
|
0.02036
|
|
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser)
|
rs61739582
|
0.02033
|
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
|
NM_001271.4(CHD2):c.3596-20G>A
|
rs78359469
|
0.02014
|
|
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=)
|
rs35401939
|
0.02006
|
|
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=)
|
rs10404506
|
0.01970
|
|
NM_000026.4(ADSL):c.358-4G>A
|
rs113199851
|
0.01950
|
|
NM_000182.5(HADHA):c.109+20A>G
|
rs7569108
|
0.01898
|
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
|
NM_000254.3(MTR):c.940G>A (p.Asp314Asn)
|
rs2229274
|
0.01853
|
|
NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)
|
rs74832989
|
0.01849
|
|
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)
|
rs34172797
|
0.01824
|
|
NM_003748.4(ALDH4A1):c.744C>T (p.Ile248=)
|
rs60427141
|
0.01815
|
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
|
NM_001127222.2(CACNA1A):c.3989+16A>G
|
rs149764550
|
0.01798
|
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
|
NM_001002755.4(NFU1):c.62+9C>T
|
rs114846829
|
0.01785
|
|
NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)
|
rs61752508
|
0.01780
|
|
NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys)
|
rs3970559
|
0.01765
|
|
NM_001875.5(CPS1):c.2391+18T>G
|
rs59741271
|
0.01764
|
|
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr)
|
rs7938203
|
0.01762
|
|
NM_003748.4(ALDH4A1):c.1583C>A (p.Thr528Asn)
|
rs61757683
|
0.01760
|
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
|
NM_003748.4(ALDH4A1):c.603+14G>A
|
rs79637190
|
0.01743
|
|
NM_002454.3(MTRR):c.1464A>G (p.Val488=)
|
rs35890938
|
0.01708
|
|
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)
|
rs6874544
|
0.01706
|
|
NM_001609.4(ACADSB):c.168A>G (p.Thr56=)
|
rs34221067
|
0.01697
|
|
NM_006623.4(PHGDH):c.139-13T>C
|
rs894078
|
0.01680
|
|
NM_001271.4(CHD2):c.4413+15C>T
|
rs74029217
|
0.01677
|
|
NM_001739.2(CA5A):c.645C>T (p.Phe215=)
|
rs149154082
|
0.01677
|
|
NM_000254.3(MTR):c.3491G>A (p.Arg1164His)
|
rs61736326
|
0.01657
|
|
NM_201253.3(CRB1):c.2128+15A>C
|
rs75691013
|
0.01643
|
|
NM_000187.4(HGD):c.1221G>A (p.Ala407=)
|
rs146206905
|
0.01639
|
|
NM_000071.3(CBS):c.*540G>A
|
rs111386779
|
0.01634
|
|
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)
|
rs141722238
|
0.01632
|
|
NM_001876.4(CPT1A):c.967+3G>A
|
rs75677837
|
0.01623
|
|
NM_015702.3(MMADHC):c.478+6T>G
|
rs13402787
|
0.01622
|
|
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val)
|
rs11568438
|
0.01617
|
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
|
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=)
|
rs73797641
|
0.01607
|
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
|
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys)
|
rs113488591
|
0.01568
|
|
NM_016335.6(PRODH):c.1463A>G (p.Asn488Ser)
|
rs139903009
|
0.01565
|
|
NM_001080.3(ALDH5A1):c.727-15T>C
|
rs13362724
|
0.01562
|
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
|
NM_000048.4(ASL):c.718+14A>T
|
rs117035302
|
0.01554
|
|
NM_004975.4(KCNB1):c.1847C>G (p.Thr616Ser)
|
rs2229006
|
0.01543
|
|
NM_002454.3(MTRR):c.1370+19G>A
|
rs113005255
|
0.01540
|
|
NM_000282.4(PCCA):c.1745C>T (p.Ser582Leu)
|
rs16957356
|
0.01499
|
|
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)
|
rs76340296
|
0.01465
|
|
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met)
|
rs35737219
|
0.01462
|
|
NM_001080.3(ALDH5A1):c.726+3G>A
|
rs114082057
|
0.01442
|
|
NM_000554.6(CRX):c.101-12A>G
|
rs73941294
|
0.01428
|
|
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044
|
0.01420
|
|
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)
|
rs3765571
|
0.01418
|
|
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)
|
rs11089991
|
0.01397
|
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
|
NM_000048.4(ASL):c.1164C>T (p.His388=)
|
rs75300185
|
0.01380
|
|
NM_004937.3(CTNS):c.-635G>C
|
rs112140949
|
0.01378
|
|
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)
|
rs113134544
|
0.01375
|
|
NM_001278293.3(ARL6):c.480-8C>T
|
rs77010939
|
0.01364
|
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
|
NM_004453.4(ETFDH):c.1690+15C>T
|
rs11931339
|
0.01356
|
|
NM_000017.4(ACADS):c.360C>T (p.Asn120=)
|
rs76543640
|
0.01346
|
|
NM_003748.4(ALDH4A1):c.1631C>T (p.Pro544Leu)
|
rs72953172
|
0.01344
|
|
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser)
|
rs76646410
|
0.01339
|
|
NM_015506.3(MMACHC):c.738C>T (p.Pro246=)
|
rs16832550
|
0.01337
|
|
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu)
|
rs41273175
|
0.01334
|
|
NM_000170.3(GLDC):c.1815C>T (p.Leu605=)
|
rs74461075
|
0.01328
|
|
NM_016579.4(CD320):c.769G>A (p.Glu257Lys)
|
rs2232786
|
0.01308
|
|
NM_001875.5(CPS1):c.1068C>G (p.Val356=)
|
rs34022862
|
0.01287
|
|
NM_014251.3(SLC25A13):c.1671C>T (p.Thr557=)
|
rs79886797
|
0.01284
|
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
|
NM_001271.4(CHD2):c.3413+16G>A
|
rs114892796
|
0.01273
|
|
NM_004975.4(KCNB1):c.1837C>T (p.Pro613Ser)
|
rs112735799
|
0.01273
|
|
NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln)
|
rs61747073
|
0.01256
|
|
NM_006623.4(PHGDH):c.318C>T (p.Ala106=)
|
rs115747918
|
0.01251
|
|
NM_000254.3(MTR):c.3496C>T (p.Leu1166=)
|
rs12030699
|
0.01249
|
|
NM_002150.3(HPD):c.1018G>T (p.Val340Leu)
|
rs36023382
|
0.01235
|
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
|
NM_000108.5(DLD):c.675T>C (p.Gly225=)
|
rs73726765
|
0.01233
|
|
NM_000170.3(GLDC):c.2203-19G>A
|
rs13440229
|
0.01223
|
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
|
NM_000687.4(AHCY):c.112C>T (p.Arg38Trp)
|
rs13043752
|
0.01213
|
|
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=)
|
rs34749281
|
0.01204
|
|
NM_172250.3(MMAA):c.138T>C (p.Ser46=)
|
rs34702224
|
0.01204
|
|
NM_001010867.4(IBA57):c.264C>G (p.Ala88=)
|
rs13375853
|
0.01203
|
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
|
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)
|
rs35145938
|
0.01185
|
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
|
NM_000016.6(ACADM):c.900C>T (p.Thr300=)
|
rs17097429
|
0.01131
|
|
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr)
|
rs61756301
|
0.01123
|
|
NM_006623.4(PHGDH):c.792+6T>G
|
rs146953046
|
0.01118
|
|
NM_000276.4(OCRL):c.940-12C>T
|
rs141800769
|
0.01112
|
|
NM_001024845.3(SLC6A9):c.960C>T (p.Tyr320=)
|
rs61733181
|
0.01110
|
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
|
NM_000240.4(MAOA):c.306+16C>A
|
rs148788403
|
0.01100
|
|
NM_018706.7(DHTKD1):c.2523C>T (p.Phe841=)
|
rs12769375
|
0.01095
|
|
NM_014251.3(SLC25A13):c.93T>C (p.Gly31=)
|
rs78430478
|
0.01089
|
|
NM_014384.3(ACAD8):c.20G>C (p.Arg7Pro)
|
rs35181923
|
0.01086
|
|
NM_002225.5(IVD):c.235-18G>A
|
rs78272986
|
0.01081
|
|
NM_000254.3(MTR):c.3599-10C>A
|
rs41530146
|
0.01080
|
|
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=)
|
rs59213357
|
0.01079
|
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
|
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)
|
rs61746421
|
0.01067
|
|
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)
|
rs34886916
|
0.01066
|
|
NM_022132.5(MCCC2):c.1578A>G (p.Val526=)
|
rs114527907
|
0.01062
|
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr)
|
rs34270473
|
0.01029
|
|
NM_001918.5(DBT):c.1281+6T>G
|
rs140115881
|
0.01022
|
|
NM_014251.3(SLC25A13):c.675G>A (p.Ser225=)
|
rs78247004
|
0.01022
|
|
NM_000187.4(HGD):c.142G>T (p.Ala48Ser)
|
rs138846036
|
0.01021
|
|
NM_003042.4(SLC6A1):c.1002A>G (p.Ala334=)
|
rs35513423
|
0.01020
|
|
NM_015662.3(IFT172):c.571-15C>G
|
rs75809198
|
0.01015
|
|
NM_014384.3(ACAD8):c.210+6C>T
|
rs148089913
|
0.01003
|
|
NM_000187.4(HGD):c.650-85A>G
|
rs2075504
|
0.00999
|
|
NM_004974.4(KCNA2):c.1392T>G (p.Gly464=)
|
rs115456625
|
0.00993
|
|
NM_003748.4(ALDH4A1):c.584C>T (p.Thr195Met)
|
rs72936434
|
0.00992
|
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
|
NM_001876.4(CPT1A):c.556-19T>G
|
rs117610994
|
0.00984
|
|
NM_001002755.4(NFU1):c.411T>C (p.Ile137=)
|
rs12474866
|
0.00978
|
|
NM_058179.4(PSAT1):c.348G>A (p.Lys116=)
|
rs41277897
|
0.00971
|
|
NM_201253.3(CRB1):c.2677-8C>T
|
rs73071678
|
0.00970
|
|
NM_000026.4(ADSL):c.124C>T (p.Leu42=)
|
rs2228415
|
0.00969
|
|
NM_000137.4(FAH):c.82-19G>A
|
rs75733859
|
0.00966
|
|
NM_004408.4(DNM1):c.1905+17C>T
|
rs115623280
|
0.00965
|
|
NM_004408.4(DNM1):c.1894-18G>T
|
rs116335289
|
0.00963
|
|
NM_016335.6(PRODH):c.1173C>T (p.Ser391=)
|
rs3970556
|
0.00960
|
|
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=)
|
rs45479698
|
0.00958
|
|
NM_152542.5(PPM1K):c.961G>A (p.Glu321Lys)
|
rs35523553
|
0.00958
|
|
NM_005881.4(BCKDK):c.845+10C>T
|
rs74015068
|
0.00955
|
|
NM_003748.4(ALDH4A1):c.433G>A (p.Ala145Thr)
|
rs113846237
|
0.00952
|
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
|
NM_000137.4(FAH):c.483C>T (p.Gly161=)
|
rs116272698
|
0.00943
|
|
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)
|
rs73559264
|
0.00941
|
|
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128
|
0.00938
|
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
|
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=)
|
rs35653697
|
0.00937
|
|
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys)
|
rs74923032
|
0.00937
|
|
NM_000137.4(FAH):c.855G>A (p.Pro285=)
|
rs73481171
|
0.00927
|
|
NM_014384.3(ACAD8):c.211-4A>G
|
rs517424
|
0.00927
|
|
NM_004975.4(KCNB1):c.2570G>A (p.Ser857Asn)
|
rs34280195
|
0.00926
|
|
NM_020686.6(ABAT):c.168+12A>G
|
rs75151311
|
0.00925
|
|
NM_020686.6(ABAT):c.603+3G>A
|
rs41312254
|
0.00925
|
|
NM_001243279.3(ACSF3):c.667-13T>C
|
rs139367843
|
0.00923
|
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
|
NM_177550.5(SLC13A5):c.1101A>G (p.Leu367=)
|
rs61520357
|
0.00918
|
|
NM_001024845.3(SLC6A9):c.1146G>A (p.Pro382=)
|
rs76354303
|
0.00909
|
|
NM_014252.4(SLC25A15):c.623-17A>G
|
rs191780003
|
0.00905
|
|
NM_001243279.3(ACSF3):c.1367-6C>T
|
rs113343336
|
0.00901
|
|
NM_003042.4(SLC6A1):c.535A>G (p.Met179Val)
|
rs34299874
|
0.00894
|
|
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=)
|
rs34541442
|
0.00893
|
|
NM_001271.4(CHD2):c.4138-15T>G
|
rs115207100
|
0.00887
|
|
NM_000187.4(HGD):c.1179T>C (p.Asp393=)
|
rs146482816
|
0.00886
|
|
NM_054012.4(ASS1):c.364-6T>C
|
rs116103138
|
0.00881
|
|
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=)
|
rs115731492
|
0.00879
|
|
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=)
|
rs2228503
|
0.00879
|
|
NM_001243279.3(ACSF3):c.1126+4C>T
|
rs73254029
|
0.00878
|
|
NM_003060.4(SLC22A5):c.-319C>A
|
rs60978556
|
0.00870
|
|
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=)
|
rs1127368
|
0.00870
|
|
NM_001271.4(CHD2):c.3540C>T (p.Ser1180=)
|
rs76621355
|
0.00866
|
|
NM_001918.5(DBT):c.724T>C (p.Ser242Pro)
|
rs146249007
|
0.00864
|
|
NM_006623.4(PHGDH):c.357-17T>C
|
rs76447100
|
0.00863
|
|
NM_001875.5(CPS1):c.1359+7G>A
|
rs16844647
|
0.00860
|
|
NM_000161.3(GCH1):c.509+15G>A
|
rs116688703
|
0.00856
|
|
NM_000320.3(QDPR):c.436+19A>G
|
rs112111831
|
0.00851
|
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
|
NM_000254.3(MTR):c.2474-19T>A
|
rs11809449
|
0.00849
|
|
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn)
|
rs139579928
|
0.00843
|
|
NM_005050.4(ABCD4):c.1028+6G>T
|
rs115783644
|
0.00836
|
|
NM_005050.4(ABCD4):c.669-13T>G
|
rs144451801
|
0.00836
|
|
NM_001875.5(CPS1):c.2394C>A (p.Val798=)
|
rs35678745
|
0.00828
|
|
NM_000687.4(AHCY):c.-34C>T
|
rs57344541
|
0.00825
|
|
NM_001958.5(EEF1A2):c.1265-15C>T
|
rs200634874
|
0.00820
|
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
|
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln)
|
rs78726268
|
0.00817
|
|
NM_000137.4(FAH):c.165C>T (p.Leu55=)
|
rs28733633
|
0.00811
|
|
NM_000360.4(TH):c.487+3G>A
|
rs11042950
|
0.00795
|
|
NC_000022.11:g.40345588A>G
|
rs3044499
|
0.00792
|
|
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met)
|
rs34442879
|
0.00790
|
|
NM_000320.3(QDPR):c.96C>T (p.Ala32=)
|
rs2518608
|
0.00789
|
|
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)
|
rs73343752
|
0.00788
|
|
NM_000126.4(ETFA):c.734-20C>A
|
rs2460160
|
0.00787
|
|
NM_000274.4(OAT):c.200-10T>C
|
rs80313473
|
0.00780
|
|
NM_015662.3(IFT172):c.1338T>C (p.Asn446=)
|
rs61743327
|
0.00780
|
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
|
NM_001271.4(CHD2):c.693-20C>T
|
rs141271290
|
0.00778
|
|
NM_000191.3(HMGCL):c.48G>A (p.Ala16=)
|
rs115611440
|
0.00769
|
|
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)
|
rs7249722
|
0.00766
|
|
NM_001258392.3(CLPB):c.996G>A (p.Arg332=)
|
rs146912721
|
0.00764
|
|
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly)
|
rs200793796
|
0.00760
|
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
|
NM_152542.5(PPM1K):c.339C>T (p.Phe113=)
|
rs116564150
|
0.00759
|
|
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=)
|
rs17850540
|
0.00755
|
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
|
NM_000709.4(BCKDHA):c.995+9C>T
|
rs13343330
|
0.00750
|
|
NM_000329.3(RPE65):c.95-18G>A
|
rs75886344
|
0.00747
|
|
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=)
|
rs111407620
|
0.00743
|
|
NM_001024845.3(SLC6A9):c.31-697C>G
|
rs187474842
|
0.00742
|
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
|
NM_054012.4(ASS1):c.421-19C>T
|
rs138744326
|
0.00736
|
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
|
NM_054012.4(ASS1):c.675C>T (p.Ile225=)
|
rs58233547
|
0.00735
|
|
NM_052845.3(MMAB):c.-180C>T
|
rs66486014
|
0.00733
|
|
NM_016579.4(CD320):c.522G>T (p.Pro174=)
|
rs79658260
|
0.00731
|
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
|
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu)
|
rs61731906
|
0.00724
|
|
NM_000531.6(OTC):c.751T>C (p.Leu251=)
|
rs36005267
|
0.00722
|
|
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)
|
rs114092911
|
0.00722
|
|
NM_000048.4(ASL):c.576G>A (p.Lys192=)
|
rs115468878
|
0.00717
|
|
NM_014384.3(ACAD8):c.801C>T (p.Leu267=)
|
rs36115758
|
0.00717
|
|
NM_020686.6(ABAT):c.1269+4A>C
|
rs183947905
|
0.00716
|
|
NM_000048.4(ASL):c.1062+16C>G
|
rs192554187
|
0.00714
|
|
NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr)
|
rs61742074
|
0.00712
|
|
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro)
|
rs139863822
|
0.00711
|
|
NM_000170.3(GLDC):c.319A>G (p.Met107Val)
|
rs138454333
|
0.00707
|
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
|
NM_001080.3(ALDH5A1):c.1389T>C (p.Asp463=)
|
rs58747567
|
0.00705
|
|
NM_003042.4(SLC6A1):c.960C>T (p.Ser320=)
|
rs35972647
|
0.00702
|
|
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)
|
rs139206262
|
0.00700
|
|
NM_001127222.2(CACNA1A):c.462C>T (p.Ala154=)
|
rs1800039
|
0.00699
|
|
NM_000071.3(CBS):c.829-12C>T
|
rs75616587
|
0.00698
|
|
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=)
|
rs144093014
|
0.00698
|
|
NM_016335.6(PRODH):c.650G>A (p.Arg217His)
|
rs148375080
|
0.00695
|
|
NM_000320.3(QDPR):c.105+17G>A
|
rs149373480
|
0.00682
|
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
|
NM_002150.3(HPD):c.345C>T (p.Ala115=)
|
rs59741465
|
0.00670
|
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
|
NM_000108.5(DLD):c.34G>A (p.Ala12Thr)
|
rs75077312
|
0.00666
|
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
|
NM_001985.3(ETFB):c.438+20C>T
|
rs114985874
|
0.00662
|
|
NM_000019.4(ACAT1):c.941-14C>T
|
rs12801620
|
0.00658
|
|
NM_001010867.4(IBA57):c.462C>T (p.His154=)
|
rs148398789
|
0.00658
|
|
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)
|
rs59691602
|
0.00655
|
|
NM_000341.4(SLC3A1):c.892-6C>G
|
rs114640930
|
0.00651
|
|
NM_000137.4(FAH):c.139A>G (p.Lys47Glu)
|
rs34749737
|
0.00650
|
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
|
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=)
|
rs181024112
|
0.00646
|
|
NM_032601.4(MCEE):c.102C>G (p.Pro34=)
|
rs146573280
|
0.00646
|
|
NM_014362.4(HIBCH):c.1038T>A (p.Val346=)
|
rs13406709
|
0.00643
|
|
NM_018706.7(DHTKD1):c.987+10G>C
|
rs142511121
|
0.00643
|
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
|
NM_002150.3(HPD):c.15T>G (p.Ser5Arg)
|
rs35849100
|
0.00625
|
|
NM_006623.4(PHGDH):c.595C>G (p.Leu199Val)
|
rs77632964
|
0.00622
|
|
NM_000254.3(MTR):c.3599-11G>A
|
rs76731959
|
0.00621
|
|
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00621
|
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
|
NM_000170.3(GLDC):c.2919+3A>G
|
rs73639325
|
0.00620
|
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
|
NM_000554.6(CRX):c.365G>A (p.Gly122Asp)
|
rs61748441
|
0.00614
|
|
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)
|
rs114276563
|
0.00611
|
|
NM_003748.4(ALDH4A1):c.453+19C>T
|
rs201900829
|
0.00609
|
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
|
NM_015662.3(IFT172):c.2858G>A (p.Arg953His)
|
rs704793
|
0.00606
|
|
NM_014251.3(SLC25A13):c.1374G>A (p.Val458=)
|
rs115266882
|
0.00605
|
|
NM_152542.5(PPM1K):c.708-169G>A
|
rs62309980
|
0.00605
|
|
NM_016335.6(PRODH):c.23C>T (p.Pro8Leu)
|
rs181332931
|
0.00601
|
|
NM_001698.3(AUH):c.77G>A (p.Cys26Tyr)
|
rs74484860
|
0.00593
|
|
NM_054012.4(ASS1):c.106-10T>G
|
rs73541957
|
0.00593
|
|
NM_004453.4(ETFDH):c.1468+15A>C
|
rs146561214
|
0.00590
|
|
NM_000687.4(AHCY):c.1168-14T>C
|
rs60143059
|
0.00588
|
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
|
NM_000182.5(HADHA):c.573+8dup
|
rs112196218
|
0.00584
|
|
NM_052845.4(MMAB):c.349-17T>C
|
rs72650187
|
0.00583
|
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
|
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=)
|
rs1805062
|
0.00578
|
|
NM_000254.3(MTR):c.858C>T (p.Pro286=)
|
rs146019467
|
0.00576
|
|
NM_004483.5(GCSH):c.292+9T>G
|
rs8177909
|
0.00574
|
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
|
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)
|
rs76547988
|
0.00560
|
|
NM_005050.4(ABCD4):c.543-14T>C
|
rs79311122
|
0.00556
|
|
NM_032861.4(SERAC1):c.739-10T>G
|
rs118093738
|
0.00555
|
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
|
NM_020686.6(ABAT):c.954+16C>T
|
rs41311266
|
0.00550
|
|
NM_000360.4(TH):c.579C>T (p.Gly193=)
|
rs147852210
|
0.00547
|
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
|
NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)
|
rs1992376
|
0.00546
|
|
NM_005334.3(HCFC1):c.1445-14C>T
|
rs184593569
|
0.00544
|
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
|
NM_000187.4(HGD):c.283-4C>T
|
rs7652072
|
0.00530
|
|
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu)
|
rs148624326
|
0.00526
|
|
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=)
|
rs147850047
|
0.00526
|
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
|
NM_015662.3(IFT172):c.4428+5C>G
|
rs114235369
|
0.00521
|
|
NM_003748.4(ALDH4A1):c.678+3G>A
|
rs138788183
|
0.00516
|
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
|
NM_000254.3(MTR):c.1033G>A (p.Val345Ile)
|
rs145006491
|
0.00514
|
|
NM_015662.3(IFT172):c.4659+16T>C
|
rs143060452
|
0.00514
|
|
NM_001024845.3(SLC6A9):c.705G>C (p.Gly235=)
|
rs72890664
|
0.00511
|
|
NM_004408.4(DNM1):c.46C>A (p.Leu16Met)
|
rs61757224
|
0.00511
|
|
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)
|
rs3027882
|
0.00511
|
|
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
|
rs142113735
|
0.00510
|
|
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)
|
rs140958507
|
0.00501
|
|
NM_002454.3(MTRR):c.288C>T (p.Leu96=)
|
rs35587995
|
0.00500
|
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
|
NM_003748.4(ALDH4A1):c.225G>A (p.Thr75=)
|
rs79920636
|
0.00496
|
|
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile)
|
rs61752970
|
0.00495
|
|
NM_018706.7(DHTKD1):c.1048A>G (p.Asn350Asp)
|
rs34716552
|
0.00493
|
|
NM_005629.4(SLC6A8):c.1496-5C>T
|
rs200695210
|
0.00491
|
|
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)
|
rs2231752
|
0.00491
|
|
NM_003748.4(ALDH4A1):c.1218C>T (p.His406=)
|
rs111291014
|
0.00488
|
|
NM_001698.3(AUH):c.182C>A (p.Pro61His)
|
rs181327211
|
0.00487
|
|
NM_014362.4(HIBCH):c.663+19G>T
|
rs75352449
|
0.00485
|
|
NM_000254.3(MTR):c.3599-18C>T
|
rs116444161
|
0.00483
|
|
NM_000329.3(RPE65):c.1155G>A (p.Thr385=)
|
rs62653014
|
0.00481
|
|
NM_004975.4(KCNB1):c.1182G>A (p.Gly394=)
|
rs77238446
|
0.00481
|
|
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys)
|
rs35706839
|
0.00480
|
|
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu)
|
rs200607114
|
0.00480
|
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
|
NM_002150.3(HPD):c.414G>A (p.Thr138=)
|
rs140788110
|
0.00479
|
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
|
NM_003042.4(SLC6A1):c.138G>A (p.Thr46=)
|
rs183069336
|
0.00475
|
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
|
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala)
|
rs112524097
|
0.00471
|
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
|
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser)
|
rs61743977
|
0.00470
|
|
NM_018706.7(DHTKD1):c.2121C>A (p.Asp707Glu)
|
rs35046964
|
0.00470
|
|
NM_018706.7(DHTKD1):c.2402+10G>C
|
rs139573946
|
0.00469
|
|
NM_004408.4(DNM1):c.357T>C (p.Pro119=)
|
rs77325628
|
0.00468
|
|
NM_000126.4(ETFA):c.351+17T>C
|
rs138629105
|
0.00467
|
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
|
NM_016335.6(PRODH):c.865T>A (p.Leu289Met)
|
rs137852934
|
0.00464
|
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
|
NM_001875.5(CPS1):c.712-16T>C
|
rs187304632
|
0.00456
|
|
NM_001918.5(DBT):c.1282-13_1282-9del
|
rs761681999
|
0.00456
|
|
NM_032601.4(MCEE):c.41-13T>A
|
rs192296685
|
0.00454
|
|
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp)
|
rs114759170
|
0.00453
|
|
NM_001958.5(EEF1A2):c.1263C>T (p.Leu421=)
|
rs115107511
|
0.00453
|
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
|
NM_000182.5(HADHA):c.1981C>T (p.Leu661=)
|
rs142348718
|
0.00450
|
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
|
NM_020166.5(MCCC1):c.726T>C (p.Asp242=)
|
rs36206712
|
0.00445
|
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
|
NM_005629.4(SLC6A8):c.1768-3C>T
|
rs150207268
|
0.00435
|
|
NM_000254.3(MTR):c.1437C>T (p.Asp479=)
|
rs115424814
|
0.00432
|
|
NM_000170.3(GLDC):c.1261+19T>C
|
rs192870343
|
0.00431
|
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
|
NM_001875.5(CPS1):c.3481-8C>T
|
rs41272669
|
0.00424
|
|
NM_018368.4(LMBRD1):c.1509+20G>C
|
rs116095397
|
0.00424
|
|
NM_018706.7(DHTKD1):c.1079T>C (p.Val360Ala)
|
rs147571909
|
0.00424
|
|
NM_000170.3(GLDC):c.2457+8C>T
|
rs147308839
|
0.00421
|
|
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)
|
rs143288344
|
0.00421
|
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
|
NM_003748.4(ALDH4A1):c.648C>T (p.Gly216=)
|
rs139340058
|
0.00417
|
|
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=)
|
rs116763934
|
0.00417
|
|
NM_000187.4(HGD):c.260A>C (p.Glu87Ala)
|
rs35702995
|
0.00416
|
|
NM_001876.4(CPT1A):c.556-16_556-15insT
|
rs539173750
|
0.00414
|
|
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)
|
rs41283145
|
0.00414
|
|
NM_012213.3(MLYCD):c.799-16C>T
|
rs150789545
|
0.00413
|
|
NM_000182.5(HADHA):c.1690-6G>A
|
rs111662358
|
0.00412
|
|
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)
|
rs115897023
|
0.00412
|
|
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met)
|
rs114443105
|
0.00411
|
|
NM_000687.4(AHCY):c.28+7C>T
|
rs201479827
|
0.00410
|
|
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=)
|
rs116173262
|
0.00410
|
|
NM_000182.5(HADHA):c.2146+16T>C
|
rs145930159
|
0.00408
|
|
NM_020686.6(ABAT):c.1452C>T (p.His484=)
|
rs61730647
|
0.00407
|
|
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg)
|
rs41301825
|
0.00406
|
|
NM_000170.3(GLDC):c.2113G>A (p.Val705Met)
|
rs147275962
|
0.00405
|
|
NM_000182.5(HADHA):c.68-10T>G
|
rs144414842
|
0.00403
|
|
NM_000254.3(MTR):c.2474-17A>T
|
rs571901048
|
0.00401
|
|
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg)
|
rs113042166
|
0.00401
|
|
NM_001698.3(AUH):c.927A>G (p.Glu309=)
|
rs78739693
|
0.00399
|
|
NM_022132.5(MCCC2):c.282-7G>A
|
rs115078899
|
0.00399
|
|
NM_000481.4(AMT):c.898A>G (p.Met300Val)
|
rs144971200
|
0.00397
|
|
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)
|
rs35470366
|
0.00394
|
|
NM_000254.3(MTR):c.669+20C>T
|
rs200305844
|
0.00392
|
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
|
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)
|
rs138254425
|
0.00392
|
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
|
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met)
|
rs147597284
|
0.00391
|
|
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)
|
rs75811190
|
0.00390
|
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
|
NM_000240.4(MAOA):c.1374+19G>A
|
rs200078877
|
0.00388
|
|
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=)
|
rs35522023
|
0.00378
|
|
NM_001985.3(ETFB):c.58-96G>A
|
rs140608276
|
0.00376
|
|
NM_000071.3(CBS):c.1039+19C>T
|
rs182908734
|
0.00373
|
|
NM_001609.4(ACADSB):c.786G>A (p.Pro262=)
|
rs76111609
|
0.00373
|
|
NM_001271.4(CHD2):c.2577+7T>C
|
rs146944583
|
0.00371
|
|
NM_003060.4(SLC22A5):c.1451-16G>A
|
rs140988771
|
0.00371
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
|
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=)
|
rs141088268
|
0.00369
|
|
NM_000341.4(SLC3A1):c.1572C>T (p.Asn524=)
|
rs149590349
|
0.00368
|
|
NM_003748.4(ALDH4A1):c.453+17C>T
|
rs200675281
|
0.00367
|
|
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)
|
rs114259126
|
0.00366
|
|
NM_004453.4(ETFDH):c.684+13A>C
|
rs149407913
|
0.00366
|
|
NM_000709.4(BCKDHA):c.975C>T (p.Leu325=)
|
rs55940366
|
0.00365
|
|
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val)
|
rs139775414
|
0.00365
|
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
|
NM_018368.4(LMBRD1):c.562+18T>A
|
rs183663902
|
0.00364
|
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
|
NM_002225.5(IVD):c.551-18C>T
|
rs142064071
|
0.00363
|
|
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His)
|
rs144020613
|
0.00362
|
|
NM_005629.4(SLC6A8):c.1141+18G>A
|
rs187400676
|
0.00362
|
|
NM_015662.3(IFT172):c.4540-6C>T
|
rs146140583
|
0.00361
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
|
NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=)
|
rs78795495
|
0.00357
|
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
|
NM_004483.5(GCSH):c.148+15C>T
|
rs544589105
|
0.00355
|
|
NM_000531.6(OTC):c.-366A>G
|
rs191615506
|
0.00354
|
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
|
NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)
|
rs115030299
|
0.00351
|
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
|
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)
|
rs115784602
|
0.00349
|
|
NM_000048.4(ASL):c.556C>A (p.Arg186=)
|
rs111407265
|
0.00347
|
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
|
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=)
|
rs138395741
|
0.00346
|
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
|
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr)
|
rs61745091
|
0.00343
|
|
NM_000108.5(DLD):c.1236+13A>G
|
rs2701026
|
0.00341
|
|
NM_000531.6(OTC):c.429T>C (p.Tyr143=)
|
rs145777402
|
0.00341
|
|
NM_001918.5(DBT):c.506G>A (p.Arg169Gln)
|
rs34267966
|
0.00341
|
|
NM_002454.3(MTRR):c.876C>T (p.Thr292=)
|
rs144724549
|
0.00341
|
|
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=)
|
rs149650795
|
0.00341
|
|
NM_000170.3(GLDC):c.678C>T (p.His226=)
|
rs12006003
|
0.00338
|
|
NM_000191.3(HMGCL):c.61-17C>T
|
rs56913973
|
0.00337
|
|
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln)
|
rs35989076
|
0.00337
|
|
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=)
|
rs142355575
|
0.00335
|
|
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile)
|
rs148233131
|
0.00335
|
|
NM_001985.3(ETFB):c.447C>T (p.Phe149=)
|
rs144640661
|
0.00334
|
|
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=)
|
rs140115896
|
0.00334
|
|
NM_020686.6(ABAT):c.816+7C>A
|
rs376046736
|
0.00332
|
|
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)
|
rs16017
|
0.00329
|
|
NM_000687.4(AHCY):c.274A>G (p.Ile92Val)
|
rs11552695
|
0.00327
|
|
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)
|
rs78731297
|
0.00326
|
|
NM_004483.5(GCSH):c.53C>T (p.Ala18Val)
|
rs540997326
|
0.00326
|
|
NM_001271.4(CHD2):c.4138-6T>C
|
rs182330071
|
0.00325
|
|
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp)
|
rs141383303
|
0.00324
|
|
NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln)
|
rs149926091
|
0.00324
|
|
NM_152542.5(PPM1K):c.708-116C>T
|
rs149713212
|
0.00322
|
|
NM_000254.3(MTR):c.1076-8C>T
|
rs115186224
|
0.00321
|
|
NM_016579.4(CD320):c.143-11C>T
|
rs116345590
|
0.00321
|
|
NM_001739.2(CA5A):c.340+20C>G
|
rs141166711
|
0.00319
|
|
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)
|
rs7580439
|
0.00319
|
|
NM_020686.6(ABAT):c.817-6A>G
|
rs140106845
|
0.00319
|
|
NM_020686.6(ABAT):c.366+11G>T
|
rs141893184
|
0.00318
|
|
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)
|
rs144053672
|
0.00316
|
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
|
NM_152542.5(PPM1K):c.481A>G (p.Thr161Ala)
|
rs113436519
|
0.00315
|
|
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=)
|
rs190603219
|
0.00314
|
|
NM_001958.5(EEF1A2):c.1030-8G>A
|
rs112283537
|
0.00314
|
|
NM_016335.6(PRODH):c.1397C>T (p.Thr466Met)
|
rs2870984
|
0.00314
|
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
|
NM_000126.4(ETFA):c.562+11A>T
|
rs143834701
|
0.00311
|
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
|
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu)
|
rs147194699
|
0.00309
|
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
|
NM_205861.3(DHDDS):c.324-10C>T
|
rs144459149
|
0.00308
|
|
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)
|
rs149748534
|
0.00304
|
|
NM_002454.3(MTRR):c.210C>G (p.Arg70=)
|
rs41282641
|
0.00303
|
|
NM_000187.4(HGD):c.711C>A (p.Arg237=)
|
rs147204182
|
0.00302
|
|
NM_001918.5(DBT):c.76T>C (p.Cys26Arg)
|
rs145674833
|
0.00302
|
|
NM_000276.4(OCRL):c.897G>A (p.Met299Ile)
|
rs138260625
|
0.00301
|
|
NM_003748.4(ALDH4A1):c.1185+10G>A
|
rs201079601
|
0.00301
|
|
NM_005957.5(MTHFR):c.1264G>A (p.Gly422Arg)
|
rs45571736
|
0.00300
|
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
|
NM_001958.5(EEF1A2):c.1296G>A (p.Thr432=)
|
rs200259257
|
0.00299
|
|
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser)
|
rs73530211
|
0.00299
|
|
NM_000709.4(BCKDHA):c.484+5G>A
|
rs149899007
|
0.00298
|
|
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=)
|
rs142023670
|
0.00298
|
|
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
|
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)
|
rs149729439
|
0.00292
|
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
|
NM_000282.4(PCCA):c.231+15C>T
|
rs202049874
|
0.00291
|
|
NM_000191.3(HMGCL):c.393A>G (p.Ser131=)
|
rs56218308
|
0.00290
|
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
|
NM_004975.4(KCNB1):c.2334C>T (p.Leu778=)
|
rs142111310
|
0.00290
|
|
NM_001875.5(CPS1):c.529-4A>T
|
rs191182348
|
0.00289
|
|
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)
|
rs140317484
|
0.00287
|
|
NM_016335.6(PRODH):c.1562G>A (p.Arg521Gln)
|
rs450046
|
0.00287
|
|
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys)
|
rs77696190
|
0.00287
|
|
NM_000341.4(SLC3A1):c.1012-23C>T
|
rs201121824
|
0.00284
|
|
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val)
|
rs200579941
|
0.00284
|
|
NM_018706.7(DHTKD1):c.1756+16T>C
|
rs202188722
|
0.00284
|
|
NM_000048.4(ASL):c.183C>T (p.Asp61=)
|
rs73374672
|
0.00282
|
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
|
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=)
|
rs79219767
|
0.00281
|
|
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val)
|
rs150140386
|
0.00280
|
|
NM_000170.3(GLDC):c.2053-5C>G
|
rs140877566
|
0.00278
|
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
|
NM_000254.3(MTR):c.250-7G>A
|
rs184332230
|
0.00277
|
|
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)
|
rs202102758
|
0.00277
|
|
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala)
|
rs62637575
|
0.00277
|
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
|
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=)
|
rs151261004
|
0.00274
|
|
NM_205861.3(DHDDS):c.140G>A (p.Arg47Gln)
|
rs149949619
|
0.00274
|
|
NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)
|
rs141587158
|
0.00273
|
|
NM_000137.4(FAH):c.554-20T>G
|
rs199501793
|
0.00272
|
|
NM_000277.3(PAH):c.772C>T (p.Leu258=)
|
rs75065106
|
0.00272
|
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
|
NM_000709.4(BCKDHA):c.996-18C>T
|
rs201511678
|
0.00271
|
|
NM_001609.4(ACADSB):c.92A>G (p.His31Arg)
|
rs57321698
|
0.00270
|
|
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=)
|
rs35339954
|
0.00267
|
|
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)
|
rs115328026
|
0.00266
|
|
NM_000254.3(MTR):c.1485G>A (p.Met495Ile)
|
rs2229275
|
0.00265
|
|
NM_001024845.3(SLC6A9):c.1537-6G>A
|
rs113184612
|
0.00265
|
|
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala)
|
rs77493891
|
0.00265
|
|
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)
|
rs35193230
|
0.00265
|
|
NM_016579.4(CD320):c.840G>A (p.Ser280=)
|
rs2232787
|
0.00264
|
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
|
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=)
|
rs141018126
|
0.00262
|
|
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met)
|
rs61731903
|
0.00262
|
|
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)
|
rs140806722
|
0.00262
|
|
NM_172250.3(MMAA):c.597G>A (p.Glu199=)
|
rs116773849
|
0.00262
|
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
|
NM_000254.3(MTR):c.2349C>T (p.Asp783=)
|
rs150734119
|
0.00261
|
|
NM_000254.3(MTR):c.2473+8G>T
|
rs144061765
|
0.00260
|
|
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)
|
rs146630359
|
0.00260
|
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
|
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val)
|
rs185042766
|
0.00257
|
|
NM_000017.4(ACADS):c.796-14G>C
|
rs201420791
|
0.00256
|
|
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg)
|
rs117844037
|
0.00256
|
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
|
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)
|
rs79125791
|
0.00254
|
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
|
NM_002150.3(HPD):c.342C>T (p.Gly114=)
|
rs61742674
|
0.00253
|
|
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln)
|
rs114943513
|
0.00253
|
|
NM_000277.3(PAH):c.1315+20C>T
|
rs190655222
|
0.00250
|
|
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile)
|
rs112095333
|
0.00250
|
|
NM_003748.4(ALDH4A1):c.228G>A (p.Ser76=)
|
rs145686117
|
0.00250
|
|
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=)
|
rs72836208
|
0.00250
|
|
NM_000126.4(ETFA):c.186+16G>T
|
rs146932936
|
0.00249
|
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
|
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=)
|
rs143916832
|
0.00249
|
|
NM_018706.7(DHTKD1):c.628G>T (p.Ala210Ser)
|
rs146741810
|
0.00249
|
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
|
NM_005629.4(SLC6A8):c.813C>T (p.Val271=)
|
rs138064933
|
0.00248
|
|
NM_004408.4(DNM1):c.1197-7C>T
|
rs41306488
|
0.00247
|
|
NM_030813.6(CLPB):c.661G>A (p.Gly221Ser)
|
rs150552809
|
0.00247
|
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
|
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln)
|
rs148584617
|
0.00244
|
|
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)
|
rs150082469
|
0.00244
|
|
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=)
|
rs115776284
|
0.00242
|
|
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=)
|
rs183159791
|
0.00242
|
|
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln)
|
rs139645527
|
0.00242
|
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
|
NM_001024845.3(SLC6A9):c.1810G>A (p.Gly604Ser)
|
rs61733177
|
0.00241
|
|
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg)
|
rs147938299
|
0.00240
|
|
NM_004975.4(KCNB1):c.1389T>A (p.Ile463=)
|
rs115929614
|
0.00239
|
|
NM_000048.4(ASL):c.162C>T (p.Leu54=)
|
rs140221164
|
0.00238
|
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
|
NM_004975.4(KCNB1):c.2106G>A (p.Ala702=)
|
rs149678923
|
0.00238
|
|
NM_014362.4(HIBCH):c.214C>T (p.Leu72=)
|
rs149479887
|
0.00238
|
|
NM_015662.3(IFT172):c.3357C>T (p.His1119=)
|
rs76787560
|
0.00238
|
|
NM_000017.4(ACADS):c.423G>A (p.Thr141=)
|
rs2239686
|
0.00237
|
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
|
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met)
|
rs139415285
|
0.00235
|
|
NM_018706.7(DHTKD1):c.1284G>A (p.Leu428=)
|
rs148613315
|
0.00235
|
|
NC_000022.11:g.40345889C>T
|
rs185968430
|
0.00234
|
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
|
NM_001875.5(CPS1):c.3928-17T>G
|
rs532757361
|
0.00233
|
|
NM_005957.5(MTHFR):c.236+3A>G
|
rs1413355
|
0.00233
|
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
|
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)
|
rs35374255
|
0.00230
|
|
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
|
rs549139396
|
0.00230
|
|
NM_000277.3(PAH):c.441+20G>A
|
rs111842675
|
0.00229
|
|
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)
|
rs144177566
|
0.00229
|
|
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
|
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)
|
rs142776952
|
0.00228
|
|
NM_022132.5(MCCC2):c.969T>C (p.Ala323=)
|
rs112793062
|
0.00228
|
|
NM_000161.3(GCH1):c.211C>T (p.Leu71=)
|
rs141883031
|
0.00227
|
|
NM_014384.3(ACAD8):c.842-8C>G
|
rs201188279
|
0.00227
|
|
NM_014362.4(HIBCH):c.243T>G (p.Thr81=)
|
rs144074606
|
0.00226
|
|
NM_004408.4(DNM1):c.1906-17T>C
|
rs191460911
|
0.00225
|
|
NM_152542.5(PPM1K):c.629G>A (p.Arg210Gln)
|
rs77538297
|
0.00225
|
|
NM_000016.6(ACADM):c.469-9A>G
|
rs181322317
|
0.00223
|
|
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
|
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln)
|
rs58524323
|
0.00220
|
|
NM_016335.6(PRODH):c.1265A>G (p.Asn422Ser)
|
rs144751631
|
0.00220
|
|
NM_183050.4(BCKDHB):c.742+16A>G
|
rs140373763
|
0.00220
|
|
NM_000017.4(ACADS):c.1087-17C>A
|
rs201218974
|
0.00219
|
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
|
NM_000282.4(PCCA):c.1236A>G (p.Pro412=)
|
rs41281120
|
0.00219
|
|
NM_001958.5(EEF1A2):c.237G>A (p.Lys79=)
|
rs61737389
|
0.00219
|
|
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu)
|
rs144751390
|
0.00219
|
|
NM_020686.6(ABAT):c.641T>C (p.Met214Thr)
|
rs149271402
|
0.00219
|
|
NC_000022.11:g.40346058C>T
|
rs79742008
|
0.00218
|
|
NM_001080.3(ALDH5A1):c.480C>T (p.Ser160=)
|
rs143486700
|
0.00217
|
|
NM_003748.4(ALDH4A1):c.1385A>C (p.Lys462Thr)
|
rs150762865
|
0.00217
|
|
NM_005957.5(MTHFR):c.348C>T (p.Ala116=)
|
rs144921426
|
0.00217
|
|
NM_005518.4(HMGCS2):c.270G>A (p.Gln90=)
|
rs41302817
|
0.00216
|
|
NM_005957.5(MTHFR):c.276C>T (p.Asp92=)
|
rs45546035
|
0.00215
|
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
|
NM_001127222.2(CACNA1A):c.1345+7C>T
|
rs192536793
|
0.00213
|
|
NM_058179.4(PSAT1):c.367A>G (p.Ile123Val)
|
rs116577685
|
0.00213
|
|
NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)
|
rs140821819
|
0.00211
|
|
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)
|
rs147559466
|
0.00210
|
|
NM_000687.4(AHCY):c.744C>T (p.Asn248=)
|
rs150175934
|
0.00210
|
|
NM_153006.3(NAGS):c.1281C>G (p.Ala427=)
|
rs371886833
|
0.00210
|
|
NM_002150.3(HPD):c.813C>T (p.Thr271=)
|
rs144416002
|
0.00209
|
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
|
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)
|
rs76773981
|
0.00207
|
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
|
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser)
|
rs151271754
|
0.00205
|
|
NM_000071.3(CBS):c.939G>A (p.Thr313=)
|
rs2228298
|
0.00204
|
|
NM_000170.3(GLDC):c.2748G>A (p.Leu916=)
|
rs139982267
|
0.00203
|
|
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)
|
rs146071220
|
0.00203
|
|
NM_005629.4(SLC6A8):c.1496-18C>T
|
rs201867256
|
0.00203
|
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
|
NM_000254.3(MTR):c.2474-18_2474-17del
|
rs1491459998
|
0.00202
|
|
NM_000353.3(TAT):c.1242T>C (p.Asn414=)
|
rs141256835
|
0.00202
|
|
NM_001958.5(EEF1A2):c.1335C>T (p.Ser445=)
|
rs372257864
|
0.00202
|
|
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=)
|
rs140495935
|
0.00202
|
|
NM_000282.4(PCCA):c.1257G>A (p.Gln419=)
|
rs147839487
|
0.00201
|
|
NM_002150.3(HPD):c.499G>A (p.Asp167Asn)
|
rs74820788
|
0.00201
|
|
NM_015506.3(MMACHC):c.276+17T>A
|
rs115028762
|
0.00201
|
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
|
NM_001739.2(CA5A):c.882G>A (p.Ala294=)
|
rs150891997
|
0.00200
|
|
NM_020686.6(ABAT):c.30G>A (p.Leu10=)
|
rs34813662
|
0.00200
|
|
NM_000329.3(RPE65):c.675C>G (p.Ile225Met)
|
rs114379164
|
0.00199
|
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
|
NM_000170.3(GLDC):c.40C>A (p.Arg14Ser)
|
rs182760732
|
0.00197
|
|
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met)
|
rs76762510
|
0.00197
|
|
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser)
|
rs75525811
|
0.00196
|
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_000320.3(QDPR):c.630-17T>C
|
rs201581320
|
0.00193
|
|
NM_000018.4(ACADVL):c.1828-4C>G
|
rs184559206
|
0.00192
|
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
|
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=)
|
rs144484007
|
0.00191
|
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
|
NM_004408.4(DNM1):c.386-14G>A
|
rs141695422
|
0.00189
|
|
NM_000071.3(CBS):c.954+8G>A
|
rs76292057
|
0.00188
|
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
|
NM_000554.6(CRX):c.253-15G>A
|
rs145805694
|
0.00187
|
|
NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)
|
rs45572531
|
0.00187
|
|
NM_006859.4(LIAS):c.849C>T (p.Gly283=)
|
rs146030265
|
0.00187
|
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
|
NM_000329.3(RPE65):c.978G>T (p.Val326=)
|
rs61752907
|
0.00186
|
|
NM_002225.5(IVD):c.235-19T>C
|
rs144063157
|
0.00186
|
|
NM_004408.4(DNM1):c.1764C>T (p.Leu588=)
|
rs111534551
|
0.00186
|
|
NM_000048.4(ASL):c.927G>T (p.Gly309=)
|
rs151294789
|
0.00185
|
|
NM_000532.5(PCCB):c.184-12G>T
|
rs181283691
|
0.00185
|
|
NM_183050.4(BCKDHB):c.447T>C (p.Phe149=)
|
rs35969420
|
0.00185
|
|
NM_183050.4(BCKDHB):c.477+14C>T
|
rs112504381
|
0.00185
|
|
NM_183050.4(BCKDHB):c.742+7A>T
|
rs111903796
|
0.00185
|
|
NM_153006.3(NAGS):c.1368C>G (p.Ser456=)
|
rs147700427
|
0.00184
|
|
NM_005957.5(MTHFR):c.1409A>T (p.Glu470Val)
|
rs142617551
|
0.00183
|
|
NM_153006.3(NAGS):c.1268+11G>A
|
rs201629145
|
0.00183
|
|
NM_000019.4(ACAT1):c.238+17C>T
|
rs199918672
|
0.00182
|
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
|
NM_001024845.3(SLC6A9):c.654T>C (p.Leu218=)
|
rs140091591
|
0.00180
|
|
NM_001918.5(DBT):c.753C>T (p.Asp251=)
|
rs79292123
|
0.00179
|
|
NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=)
|
rs146111714
|
0.00178
|
|
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=)
|
rs148232368
|
0.00177
|
|
NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
|
rs115802744
|
0.00177
|
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
|
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala)
|
rs148496007
|
0.00175
|
|
NM_001271.4(CHD2):c.4592+18G>A
|
rs116022337
|
0.00174
|
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
|
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr)
|
rs149632783
|
0.00173
|
|
NM_000240.4(MAOA):c.1165-13C>T
|
rs184965368
|
0.00173
|
|
NM_001875.5(CPS1):c.3928-15T>C
|
rs552764351
|
0.00173
|
|
NM_000191.3(HMGCL):c.497+19G>A
|
rs187735179
|
0.00172
|
|
NM_000532.5(PCCB):c.49C>A (p.Leu17Met)
|
rs200185747
|
0.00172
|
|
NM_001271.4(CHD2):c.2730A>T (p.Val910=)
|
rs77895180
|
0.00172
|
|
NM_022132.5(MCCC2):c.1217-7C>G
|
rs148369119
|
0.00171
|
|
NM_000159.4(GCDH):c.642G>A (p.Thr214=)
|
rs142806397
|
0.00170
|
|
NM_001258392.3(CLPB):c.349G>T (p.Ala117Ser)
|
rs150248137
|
0.00170
|
|
NM_000017.4(ACADS):c.522C>T (p.Gly174=)
|
rs143925225
|
0.00169
|
|
NM_000276.4(OCRL):c.1291G>A (p.Asp431Asn)
|
rs137884245
|
0.00169
|
|
NM_000282.4(PCCA):c.1284+16G>A
|
rs113610934
|
0.00169
|
|
NM_000026.4(ADSL):c.1010+18A>G
|
rs201019280
|
0.00168
|
|
NM_000159.4(GCDH):c.271+3G>A
|
rs75430014
|
0.00167
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
|
NM_000187.4(HGD):c.129G>A (p.Gln43=)
|
rs142789485
|
0.00165
|
|
NM_000254.3(MTR):c.685G>A (p.Val229Ile)
|
rs61736441
|
0.00164
|
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
|
NM_000018.4(ACADVL):c.1678+23C>T
|
rs147546456
|
0.00163
|
|
NM_000532.5(PCCB):c.774C>G (p.His258Gln)
|
rs141615209
|
0.00163
|
|
NM_001482.3(GATM):c.669T>C (p.Tyr223=)
|
rs151231277
|
0.00163
|
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
|
NM_000071.3(CBS):c.1059G>A (p.Thr353=)
|
rs61735859
|
0.00162
|
|
NM_000254.3(MTR):c.2474-16A>T
|
rs539082928
|
0.00162
|
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
|
NM_000276.4(OCRL):c.2116-9C>T
|
rs145297701
|
0.00159
|
|
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys)
|
rs112237881
|
0.00159
|
|
NM_003042.4(SLC6A1):c.912C>T (p.Ile304=)
|
rs35450949
|
0.00159
|
|
NM_000254.3(MTR):c.764+16T>C
|
rs138222686
|
0.00158
|
|
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln)
|
rs150555106
|
0.00158
|
|
NM_025136.4(OPA3):c.537A>G (p.Lys179=)
|
rs140105522
|
0.00158
|
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
|
NM_018706.7(DHTKD1):c.443A>C (p.Lys148Thr)
|
rs141676270
|
0.00156
|
|
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)
|
rs148411623
|
0.00155
|
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
|
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)
|
rs77401816
|
0.00154
|
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
|
NM_002860.4(ALDH18A1):c.2232G>A (p.Ser744=)
|
rs148601288
|
0.00153
|
|
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)
|
rs138739620
|
0.00153
|
|
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp)
|
rs116846245
|
0.00152
|
|
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala)
|
rs61747068
|
0.00152
|
|
NM_001258392.3(CLPB):c.1796G>A (p.Arg599His)
|
rs149463053
|
0.00151
|
|
NM_003042.4(SLC6A1):c.471+6T>C
|
rs142579600
|
0.00151
|
|
NM_016335.6(PRODH):c.21G>T (p.Leu7=)
|
rs539772713
|
0.00151
|
|
NM_000341.4(SLC3A1):c.1333-12T>A
|
rs183158004
|
0.00150
|
|
NM_001271.4(CHD2):c.2353-10A>G
|
rs190159225
|
0.00150
|
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
|
NM_003748.4(ALDH4A1):c.298-14C>T
|
rs201072479
|
0.00149
|
|
NM_006859.4(LIAS):c.393+8C>A
|
rs201574806
|
0.00149
|
|
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)
|
rs3970555
|
0.00149
|
|
NM_001258392.3(CLPB):c.1122+16T>C
|
rs187846751
|
0.00147
|
|
NM_002454.3(MTRR):c.177C>G (p.Thr59=)
|
rs142098262
|
0.00147
|
|
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
|
rs77820367
|
0.00146
|
|
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr)
|
rs149482918
|
0.00146
|
|
NM_052845.4(MMAB):c.624C>T (p.Asn208=)
|
rs146687452
|
0.00146
|
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
|
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)
|
rs16879355
|
0.00145
|
|
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=)
|
rs115049252
|
0.00145
|
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
|
NM_003060.4(SLC22A5):c.-149G>A
|
rs57262206
|
0.00144
|
|
NM_000282.4(PCCA):c.828T>C (p.Gly276=)
|
rs143838146
|
0.00143
|
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
|
NM_018706.7(DHTKD1):c.2184C>T (p.Asp728=)
|
rs142017323
|
0.00142
|
|
NM_002150.3(HPD):c.498G>A (p.Met166Ile)
|
rs149081239
|
0.00141
|
|
NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
|
NM_001271.4(CHD2):c.330G>A (p.Arg110=)
|
rs138626801
|
0.00140
|
|
NM_015702.3(MMADHC):c.9+14C>T
|
rs140075619
|
0.00140
|
|
NM_003042.4(SLC6A1):c.1647C>T (p.Pro549=)
|
rs2272401
|
0.00138
|
|
NM_018706.7(DHTKD1):c.234C>T (p.Thr78=)
|
rs138526346
|
0.00138
|
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
|
NM_000071.3(CBS):c.1359-14C>T
|
rs115185587
|
0.00137
|
|
NM_000137.4(FAH):c.1098G>A (p.Ser366=)
|
rs35033541
|
0.00137
|
|
NM_000532.5(PCCB):c.1299+9C>A
|
rs60968242
|
0.00137
|
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
|
NM_000137.4(FAH):c.921A>G (p.Gly307=)
|
rs76338717
|
0.00135
|
|
NM_015662.3(IFT172):c.4755+9G>C
|
rs375261962
|
0.00135
|
|
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys)
|
rs137978109
|
0.00135
|
|
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn)
|
rs140481641
|
0.00135
|
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
|
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)
|
rs117709404
|
0.00134
|
|
NM_005957.5(MTHFR):c.708C>T (p.Phe236=)
|
rs34279942
|
0.00134
|
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
|
NM_153006.3(NAGS):c.612A>G (p.Val204=)
|
rs139907815
|
0.00134
|
|
NM_000137.4(FAH):c.961-17G>A
|
rs372657388
|
0.00133
|
|
NM_000156.6(GAMT):c.348G>A (p.Leu116=)
|
rs117884619
|
0.00133
|
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
|
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys)
|
rs147353781
|
0.00133
|
|
NM_003748.4(ALDH4A1):c.1096G>A (p.Gly366Arg)
|
rs41306567
|
0.00133
|
|
NM_006623.4(PHGDH):c.510+6A>G
|
rs371736796
|
0.00133
|
|
NM_000276.4(OCRL):c.39+10G>A
|
rs765141317
|
0.00132
|
|
NM_001243279.3(ACSF3):c.822+18C>T
|
rs370191947
|
0.00132
|
|
NM_020166.5(MCCC1):c.639+13A>G
|
rs140342772
|
0.00132
|
|
NM_000159.4(GCDH):c.1197C>T (p.His399=)
|
rs139344943
|
0.00131
|
|
NM_000170.3(GLDC):c.2955G>A (p.Thr985=)
|
rs142004524
|
0.00131
|
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
|
NM_005957.5(MTHFR):c.1347+20G>A
|
rs201780607
|
0.00131
|
|
NM_001985.3(ETFB):c.521G>A (p.Arg174His)
|
rs141917423
|
0.00130
|
|
NM_000048.4(ASL):c.309G>A (p.Thr103=)
|
rs142448820
|
0.00129
|
|
NM_000137.4(FAH):c.456-20C>T
|
rs75021564
|
0.00128
|
|
NM_000159.4(GCDH):c.1143C>T (p.Ile381=)
|
rs142553521
|
0.00128
|
|
NM_054012.4(ASS1):c.1101G>A (p.Leu367=)
|
rs139031154
|
0.00128
|
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
|
NM_000532.5(PCCB):c.138G>C (p.Ala46=)
|
rs145075817
|
0.00126
|
|
NM_016579.4(CD320):c.745C>T (p.Leu249Phe)
|
rs115054912
|
0.00126
|
|
NM_001609.4(ACADSB):c.1014C>T (p.His338=)
|
rs57339164
|
0.00125
|
|
NM_001698.3(AUH):c.381A>G (p.Ile127Met)
|
rs146227896
|
0.00125
|
|
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala)
|
rs150149784
|
0.00124
|
|
NM_000187.4(HGD):c.919C>T (p.Arg307Cys)
|
rs143556739
|
0.00124
|
|
NM_003748.4(ALDH4A1):c.102C>T (p.Asn34=)
|
rs148778436
|
0.00124
|
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
|
NM_145261.4(DNAJC19):c.281-12T>C
|
rs141982712
|
0.00123
|
|
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
|
NM_000026.4(ADSL):c.880T>C (p.Tyr294His)
|
rs8192461
|
0.00121
|
|
NM_000341.4(SLC3A1):c.672A>G (p.Gln224=)
|
rs140331858
|
0.00121
|
|
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=)
|
rs139534358
|
0.00121
|
|
NM_004974.4(KCNA2):c.1299A>T (p.Thr433=)
|
rs80034565
|
0.00121
|
|
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
|
rs151098534
|
0.00121
|
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
|
NM_002454.3(MTRR):c.144C>T (p.Thr48=)
|
rs138612190
|
0.00120
|
|
NM_002454.3(MTRR):c.828G>A (p.Val276=)
|
rs115289458
|
0.00120
|
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
|
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)
|
rs145183787
|
0.00118
|
|
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu)
|
rs45449298
|
0.00118
|
|
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp)
|
rs138675420
|
0.00118
|
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
|
NM_000018.4(ACADVL):c.663C>T (p.Ser221=)
|
rs144255994
|
0.00116
|
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
|
NM_003748.4(ALDH4A1):c.135T>G (p.Pro45=)
|
rs147154947
|
0.00116
|
|
NM_004937.3(CTNS):c.220G>A (p.Asp74Asn)
|
rs139364393
|
0.00116
|
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00116
|
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
|
NM_001875.5(CPS1):c.1437G>A (p.Ala479=)
|
rs80261173
|
0.00114
|
|
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)
|
rs11568514
|
0.00114
|
|
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=)
|
rs143015234
|
0.00114
|
|
NM_012213.3(MLYCD):c.686G>A (p.Arg229His)
|
rs142117752
|
0.00114
|
|
NM_000170.3(GLDC):c.2988G>C (p.Gln996His)
|
rs138640017
|
0.00112
|
|
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)
|
rs144816455
|
0.00112
|
|
NM_016335.6(PRODH):c.1363G>T (p.Ala455Ser)
|
rs1807467
|
0.00112
|
|
NM_001024845.3(SLC6A9):c.1866T>C (p.Ser622=)
|
rs150379192
|
0.00111
|
|
NM_001698.3(AUH):c.135G>A (p.Ala45=)
|
rs774989333
|
0.00111
|
|
NM_014384.3(ACAD8):c.1162G>A (p.Val388Met)
|
rs139792723
|
0.00111
|
|
NM_000045.4(ARG1):c.953T>C (p.Leu318Pro)
|
rs73544627
|
0.00110
|
|
NM_000170.3(GLDC):c.498T>C (p.Pro166=)
|
rs150193069
|
0.00110
|
|
NM_000274.4(OAT):c.969C>T (p.Tyr323=)
|
rs138895801
|
0.00110
|
|
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser)
|
rs116118397
|
0.00110
|
|
NM_001271.4(CHD2):c.2876+11G>A
|
rs199828490
|
0.00110
|
|
NM_153006.3(NAGS):c.426+19G>A
|
rs368844914
|
0.00110
|
|
NM_201253.3(CRB1):c.2843-13C>T
|
rs199808176
|
0.00109
|
|
NM_000016.6(ACADM):c.678A>G (p.Ala226=)
|
rs2229249
|
0.00108
|
|
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)
|
rs140871321
|
0.00108
|
|
NM_000137.4(FAH):c.565G>A (p.Val189Ile)
|
rs145389125
|
0.00108
|
|
NM_000281.4(PCBD1):c.263G>A (p.Arg88Gln)
|
rs115117837
|
0.00108
|
|
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552
|
0.00108
|
|
NM_012213.3(MLYCD):c.408C>G (p.Arg136=)
|
rs183593320
|
0.00108
|
|
NM_001010867.4(IBA57):c.645C>T (p.Asp215=)
|
rs61743941
|
0.00107
|
|
NM_000254.3(MTR):c.3477C>T (p.Asp1159=)
|
rs117061132
|
0.00106
|
|
NM_005957.5(MTHFR):c.417G>A (p.Thr139=)
|
rs2066466
|
0.00106
|
|
NM_201253.3(CRB1):c.484G>A (p.Val162Met)
|
rs137853138
|
0.00106
|
|
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)
|
rs150828989
|
0.00105
|
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
|
NM_014251.3(SLC25A13):c.329-17G>C
|
rs185938432
|
0.00105
|
|
NM_058179.4(PSAT1):c.884C>G (p.Pro295Arg)
|
rs148080212
|
0.00105
|
|
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys)
|
rs140747102
|
0.00104
|
|
NM_002454.3(MTRR):c.781-14A>G
|
rs112996747
|
0.00104
|
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
|
NM_000277.3(PAH):c.*19G>T
|
rs372637021
|
0.00103
|
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
|
NM_000709.4(BCKDHA):c.15C>T (p.Ile5=)
|
rs17173144
|
0.00103
|
|
NM_001024845.3(SLC6A9):c.517G>A (p.Ala173Thr)
|
rs142642003
|
0.00103
|
|
NM_003042.4(SLC6A1):c.411C>T (p.Asn137=)
|
rs148429200
|
0.00103
|
|
NM_004453.4(ETFDH):c.1812G>A (p.Val604=)
|
rs17843967
|
0.00103
|
|
NM_015662.3(IFT172):c.3530+7T>C
|
rs150882197
|
0.00103
|
|
NM_000554.6(CRX):c.102C>T (p.Ser34=)
|
rs139778328
|
0.00102
|
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
|
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)
|
rs141131039
|
0.00101
|
|
NM_000360.4(TH):c.1105-14C>T
|
rs200496790
|
0.00101
|
|
NM_000709.4(BCKDHA):c.840C>T (p.Arg280=)
|
rs61737367
|
0.00101
|
|
NM_001482.3(GATM):c.69+13C>T
|
rs573273215
|
0.00101
|
|
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)
|
rs185998087
|
0.00101
|
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
|
NM_015662.3(IFT172):c.2443-19A>G
|
rs199907803
|
0.00101
|
|
NM_015662.3(IFT172):c.2787+20C>T
|
rs200344602
|
0.00100
|
|
NM_032861.4(SERAC1):c.1137A>G (p.Val379=)
|
rs115846131
|
0.00100
|
|
NM_001271.4(CHD2):c.855G>A (p.Ala285=)
|
rs138796857
|
0.00099
|
|
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp)
|
rs139560074
|
0.00099
|
|
NM_054012.4(ASS1):c.363+16A>G
|
rs191432165
|
0.00099
|
|
NM_054012.4(ASS1):c.420+13T>G
|
rs201883474
|
0.00099
|
|
NM_000687.4(AHCY):c.219+7C>G
|
rs200332864
|
0.00098
|
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
|
NM_000170.3(GLDC):c.1401+9A>G
|
rs75555848
|
0.00097
|
|
NM_004975.4(KCNB1):c.1296G>A (p.Arg432=)
|
rs142605642
|
0.00097
|
|
NM_020686.6(ABAT):c.366+10G>A
|
rs61307956
|
0.00097
|
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
|
NM_058179.4(PSAT1):c.696G>A (p.Val232=)
|
rs140331840
|
0.00097
|
|
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)
|
rs141200145
|
0.00096
|
|
NM_000170.3(GLDC):c.222C>T (p.Asp74=)
|
rs148373517
|
0.00096
|
|
NM_000282.4(PCCA):c.2172C>T (p.Leu724=)
|
rs150352833
|
0.00096
|
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
|
NM_001258392.3(CLPB):c.212G>C (p.Gly71Ala)
|
rs146099754
|
0.00096
|
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
|
NM_012213.3(MLYCD):c.375C>G (p.Ala125=)
|
rs375657338
|
0.00096
|
|
NM_054012.4(ASS1):c.106-16C>T
|
rs200396223
|
0.00096
|
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
|
NM_000170.3(GLDC):c.2964G>A (p.Arg988=)
|
rs146045718
|
0.00095
|
|
NM_004937.3(CTNS):c.834G>A (p.Leu278=)
|
rs139519275
|
0.00094
|
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
|
NM_054012.4(ASS1):c.1134C>T (p.Asn378=)
|
rs140715869
|
0.00094
|
|
NM_000016.6(ACADM):c.994C>T (p.Leu332=)
|
rs138098371
|
0.00093
|
|
NM_000071.3(CBS):c.1223+12C>T
|
rs116578198
|
0.00093
|
|
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)
|
rs2229460
|
0.00093
|
|
NM_001271.4(CHD2):c.2973+4A>G
|
rs202244266
|
0.00093
|
|
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln)
|
rs77477448
|
0.00093
|
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
|
NM_003042.4(SLC6A1):c.715-8C>T
|
rs41537851
|
0.00093
|
|
NM_004408.4(DNM1):c.450C>G (p.Pro150=)
|
rs143834670
|
0.00093
|
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
|
NM_000137.4(FAH):c.1205G>A (p.Arg402His)
|
rs147796599
|
0.00092
|
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
|
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=)
|
rs146932786
|
0.00092
|
|
NM_014251.3(SLC25A13):c.1311+3A>G
|
rs180844972
|
0.00092
|
|
NM_018368.4(LMBRD1):c.981-11A>T
|
rs75847296
|
0.00092
|
|
NM_000182.5(HADHA):c.589G>T (p.Ala197Ser)
|
rs116320983
|
0.00091
|
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_000481.4(AMT):c.510G>C (p.Val170=)
|
rs140380954
|
0.00091
|
|
NM_001080.3(ALDH5A1):c.354+14G>A
|
rs572861590
|
0.00091
|
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
|
NM_006623.4(PHGDH):c.1208A>G (p.Asn403Ser)
|
rs139827025
|
0.00091
|
|
NM_177550.5(SLC13A5):c.231+6C>A
|
rs138834680
|
0.00091
|
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
|
NM_004408.4(DNM1):c.1782-9A>G
|
rs201739236
|
0.00090
|
|
NM_018706.7(DHTKD1):c.609C>T (p.His203=)
|
rs12265659
|
0.00090
|
|
NM_000360.4(TH):c.695+13T>C
|
rs373030101
|
0.00089
|
|
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg)
|
rs149414160
|
0.00089
|
|
NM_014384.3(ACAD8):c.211-20C>T
|
rs200508056
|
0.00089
|
|
NM_018706.7(DHTKD1):c.2722C>A (p.His908Asn)
|
rs140386798
|
0.00089
|
|
NM_183050.4(BCKDHB):c.633+16T>C
|
rs373772596
|
0.00089
|
|
NM_000108.5(DLD):c.1464+11A>G
|
rs184949878
|
0.00088
|
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
|
NM_000276.4(OCRL):c.40-5C>T
|
rs201211377
|
0.00088
|
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
|
NM_001258392.3(CLPB):c.1935C>T (p.Leu645=)
|
rs138717332
|
0.00088
|
|
NM_001739.2(CA5A):c.214A>C (p.Arg72=)
|
rs150841082
|
0.00088
|
|
NM_012213.3(MLYCD):c.507G>A (p.Leu169=)
|
rs555482480
|
0.00088
|
|
NM_016335.6(PRODH):c.517+19C>T
|
rs370155847
|
0.00088
|
|
NM_000045.4(ARG1):c.62G>A (p.Arg21Gln)
|
rs144994895
|
0.00087
|
|
NM_000277.3(PAH):c.706+17G>T
|
rs62508592
|
0.00087
|
|
NM_000282.4(PCCA):c.2040+11dup
|
rs779884567
|
0.00087
|
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
|
NC_000022.11:g.40345988G>C
|
rs576999610
|
0.00086
|
|
NM_000071.3(CBS):c.52C>T (p.Arg18Cys)
|
rs201827340
|
0.00086
|
|
NM_000329.3(RPE65):c.1129-14A>G
|
rs113329701
|
0.00086
|
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
|
NM_004408.4(DNM1):c.747C>T (p.Thr249=)
|
rs141651183
|
0.00086
|
|
NM_015662.3(IFT172):c.2787+6G>A
|
rs75805075
|
0.00086
|
|
NM_018706.7(DHTKD1):c.2340A>G (p.Gln780=)
|
rs149564288
|
0.00086
|
|
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu)
|
rs149066296
|
0.00086
|
|
NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)
|
rs143427811
|
0.00086
|
|
NM_001739.2(CA5A):c.555+12C>G
|
rs183776303
|
0.00085
|
|
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val)
|
rs77300588
|
0.00085
|
|
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
|
NM_000016.6(ACADM):c.1194+11A>G
|
rs373059851
|
0.00084
|
|
NM_000709.4(BCKDHA):c.376-4C>T
|
rs199725420
|
0.00084
|
|
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=)
|
rs142475999
|
0.00084
|
|
NM_018706.7(DHTKD1):c.1262A>G (p.Lys421Arg)
|
rs34033944
|
0.00084
|
|
NM_018706.7(DHTKD1):c.369T>C (p.Asn123=)
|
rs35638771
|
0.00084
|
|
NM_000048.4(ASL):c.1029C>T (p.Leu343=)
|
rs140532520
|
0.00083
|
|
NM_000071.3(CBS):c.1257G>A (p.Leu419=)
|
rs138432416
|
0.00083
|
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
|
NM_000282.4(PCCA):c.1065+5C>T
|
rs201597816
|
0.00083
|
|
NM_001243279.3(ACSF3):c.411C>T (p.Val137=)
|
rs148969539
|
0.00083
|
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
|
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln)
|
rs78631901
|
0.00083
|
|
NM_015662.3(IFT172):c.402+8A>C
|
rs184565714
|
0.00083
|
|
NM_018368.4(LMBRD1):c.1509+19C>T
|
rs200824654
|
0.00083
|
|
NM_001127222.2(CACNA1A):c.5840-14G>A
|
rs184658006
|
0.00082
|
|
NM_005957.5(MTHFR):c.732C>T (p.Thr244=)
|
rs45486194
|
0.00082
|
|
NM_016335.6(PRODH):c.42T>C (p.Ile14=)
|
rs761010757
|
0.00082
|
|
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly)
|
rs35068278
|
0.00082
|
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
|
NM_000126.4(ETFA):c.6C>T (p.Phe2=)
|
rs749929239
|
0.00081
|
|
NM_000159.4(GCDH):c.471C>T (p.Ser157=)
|
rs146682905
|
0.00081
|
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
|
NM_001876.4(CPT1A):c.2142G>A (p.Pro714=)
|
rs150792109
|
0.00081
|
|
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys)
|
rs114030714
|
0.00081
|
|
NM_003042.4(SLC6A1):c.1079-14A>G
|
rs146962789
|
0.00081
|
|
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)
|
rs147304638
|
0.00081
|
|
NM_004975.4(KCNB1):c.1734G>C (p.Gly578=)
|
rs145456546
|
0.00081
|
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
|
NM_054012.4(ASS1):c.99C>T (p.Ala33=)
|
rs147842617
|
0.00081
|
|
NM_152542.5(PPM1K):c.708-5A>G
|
rs192622849
|
0.00081
|
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
|
NM_000532.5(PCCB):c.882C>T (p.Pro294=)
|
rs142730126
|
0.00080
|
|
NM_025136.4(OPA3):c.249G>C (p.Leu83=)
|
rs199692583
|
0.00080
|
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
|
NM_000016.6(ACADM):c.645T>A (p.Ala215=)
|
rs147395095
|
0.00079
|
|
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)
|
rs140169311
|
0.00079
|
|
NM_001243279.3(ACSF3):c.1614-12T>C
|
rs373509783
|
0.00079
|
|
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=)
|
rs149521997
|
0.00079
|
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
|
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile)
|
rs148540696
|
0.00078
|
|
NM_001002755.4(NFU1):c.166+8T>A
|
rs199927640
|
0.00078
|
|
NM_001127222.2(CACNA1A):c.5400+15A>C
|
rs373246283
|
0.00078
|
|
NM_001271.4(CHD2):c.960A>T (p.Thr320=)
|
rs149632554
|
0.00078
|
|
NM_001918.5(DBT):c.327C>T (p.Thr109=)
|
rs138796800
|
0.00078
|
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_006623.4(PHGDH):c.291-18C>A
|
rs199604131
|
0.00078
|
|
NM_014362.4(HIBCH):c.438+9A>T
|
rs201813923
|
0.00078
|
|
NM_015662.3(IFT172):c.3186G>A (p.Val1062=)
|
rs143922405
|
0.00078
|
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
|
NM_000156.6(GAMT):c.581T>C (p.Val194Ala)
|
rs147739199
|
0.00077
|
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
|
NM_003042.4(SLC6A1):c.953+19G>A
|
rs113968319
|
0.00077
|
|
NM_004937.3(CTNS):c.461+10del
|
rs377470989
|
0.00077
|
|
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=)
|
rs141028076
|
0.00077
|
|
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)
|
rs139369078
|
0.00077
|
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
|
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr)
|
rs139310305
|
0.00076
|
|
NM_000353.3(TAT):c.929T>C (p.Val310Ala)
|
rs143213566
|
0.00076
|
|
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile)
|
rs147538201
|
0.00076
|
|
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)
|
rs535825137
|
0.00076
|
|
NM_001875.5(CPS1):c.381+17C>T
|
rs374364413
|
0.00076
|
|
NM_004408.4(DNM1):c.2540C>T (p.Ser847Leu)
|
rs199498658
|
0.00076
|
|
NM_004453.4(ETFDH):c.832-10T>G
|
rs200911913
|
0.00076
|
|
NM_004974.4(KCNA2):c.213C>T (p.Pro71=)
|
rs116111724
|
0.00076
|
|
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)
|
rs144160012
|
0.00076
|
|
NM_005957.5(MTHFR):c.1941C>A (p.Thr647=)
|
rs139586522
|
0.00076
|
|
NM_005957.5(MTHFR):c.788A>C (p.His263Pro)
|
rs142612062
|
0.00076
|
|
NM_015662.3(IFT172):c.5161-20G>A
|
rs372154058
|
0.00076
|
|
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val)
|
rs142006153
|
0.00076
|
|
NM_000254.3(MTR):c.3774C>T (p.Pro1258=)
|
rs76418646
|
0.00075
|
|
NM_000276.4(OCRL):c.1602+11G>A
|
rs189554643
|
0.00075
|
|
NM_000387.6(SLC25A20):c.535+18C>T
|
rs182781221
|
0.00075
|
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
|
NM_012213.3(MLYCD):c.1007A>G (p.Lys336Arg)
|
rs76841036
|
0.00075
|
|
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala)
|
rs148962110
|
0.00075
|
|
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)
|
rs201813445
|
0.00075
|
|
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)
|
rs138480247
|
0.00075
|
|
NM_000329.3(RPE65):c.1244-5C>T
|
rs202185816
|
0.00074
|
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
|
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
|
rs139306043
|
0.00074
|
|
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)
|
rs78189904
|
0.00074
|
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
|
NM_000274.4(OAT):c.1224T>C (p.His408=)
|
rs201864147
|
0.00073
|
|
NM_000276.4(OCRL):c.239-20T>C
|
rs376289741
|
0.00073
|
|
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser)
|
rs143068960
|
0.00073
|
|
NM_000532.5(PCCB):c.429+7G>A
|
rs201986472
|
0.00073
|
|
NM_001010867.4(IBA57):c.210G>C (p.Leu70=)
|
rs199589485
|
0.00073
|
|
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=)
|
rs377734902
|
0.00073
|
|
NM_004974.4(KCNA2):c.807C>T (p.Thr269=)
|
rs146036196
|
0.00073
|
|
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=)
|
rs143019641
|
0.00073
|
|
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr)
|
rs145641996
|
0.00073
|
|
NM_016335.6(PRODH):c.1252-14C>T
|
rs189009057
|
0.00073
|
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
|
NM_000481.4(AMT):c.354G>A (p.Leu118=)
|
rs145194293
|
0.00072
|
|
NM_000554.6(CRX):c.618C>T (p.Ser206=)
|
rs145117150
|
0.00072
|
|
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)
|
rs199781237
|
0.00072
|
|
NM_004937.3(CTNS):c.695G>A (p.Arg232His)
|
rs142641674
|
0.00072
|
|
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)
|
rs140326392
|
0.00072
|
|
NM_005881.4(BCKDK):c.717-15C>T
|
rs201213741
|
0.00072
|
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
|
NM_000281.4(PCBD1):c.216+18C>T
|
rs183906944
|
0.00071
|
|
NM_000282.4(PCCA):c.1896A>G (p.Thr632=)
|
rs61760965
|
0.00071
|
|
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)
|
rs149136930
|
0.00071
|
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
|
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
|
rs148204462
|
0.00071
|
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
|
NM_000274.4(OAT):c.48C>T (p.Arg16=)
|
rs143526711
|
0.00070
|
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
|
NM_001876.4(CPT1A):c.453+9G>A
|
rs183694834
|
0.00070
|
|
NM_002860.4(ALDH18A1):c.2160C>T (p.Phe720=)
|
rs374052426
|
0.00070
|
|
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met)
|
rs141327098
|
0.00070
|
|
NM_005629.4(SLC6A8):c.1142-19G>A
|
rs77129489
|
0.00070
|
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
|
NM_000329.3(RPE65):c.496-4G>A
|
rs138146176
|
0.00069
|
|
NM_001127222.2(CACNA1A):c.1083-4C>G
|
rs201056216
|
0.00069
|
|
NM_001278293.3(ARL6):c.442T>G (p.Cys148Gly)
|
rs148745414
|
0.00069
|
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
|
NM_000071.3(CBS):c.636C>T (p.Asn212=)
|
rs2298758
|
0.00068
|
|
NM_001271.4(CHD2):c.2577+19T>C
|
rs193089255
|
0.00068
|
|
NM_001698.3(AUH):c.140C>T (p.Pro47Leu)
|
rs200564356
|
0.00068
|
|
NM_004937.3(CTNS):c.516C>T (p.Ala172=)
|
rs143405190
|
0.00068
|
|
NM_005334.3(HCFC1):c.503+14C>G
|
rs371163886
|
0.00068
|
|
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn)
|
rs150847674
|
0.00068
|
|
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln)
|
rs146332658
|
0.00068
|
|
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
|
rs144182725
|
0.00068
|
|
NM_022132.5(MCCC2):c.511+7dup
|
rs200382661
|
0.00068
|
|
NM_152542.5(PPM1K):c.858T>G (p.His286Gln)
|
rs141441221
|
0.00068
|
|
NM_153006.3(NAGS):c.1302C>T (p.Pro434=)
|
rs150004962
|
0.00068
|
|
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)
|
rs9448884
|
0.00068
|
|
NM_000071.3(CBS):c.1125C>T (p.Pro375=)
|
rs146180894
|
0.00067
|
|
NM_000071.3(CBS):c.829-13G>A
|
rs201106576
|
0.00067
|
|
NM_000137.4(FAH):c.553+10C>T
|
rs201051426
|
0.00067
|
|
NM_000687.4(AHCY):c.1008C>T (p.Ile336=)
|
rs139344907
|
0.00067
|
|
NM_001243279.3(ACSF3):c.823-4G>C
|
rs558325262
|
0.00067
|
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
|
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met)
|
rs116246250
|
0.00067
|
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
|
NM_001698.3(AUH):c.598+10A>C
|
rs186203318
|
0.00066
|
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
|
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser)
|
rs192913494
|
0.00066
|
|
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
|
rs139926581
|
0.00066
|
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
|
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)
|
rs147600006
|
0.00065
|
|
NM_020686.6(ABAT):c.448-20G>A
|
rs200644195
|
0.00065
|
|
NC_000022.11:g.40346167C>T
|
rs561082270
|
0.00064
|
|
NM_000026.4(ADSL):c.403-4G>A
|
rs373652667
|
0.00064
|
|
NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)
|
rs112029370
|
0.00064
|
|
NM_000191.3(HMGCL):c.663C>T (p.Val221=)
|
rs143884026
|
0.00064
|
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
|
NM_001024845.3(SLC6A9):c.528C>T (p.Ser176=)
|
rs139332952
|
0.00064
|
|
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=)
|
rs371116746
|
0.00064
|
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
|
NM_002150.3(HPD):c.1038C>T (p.Leu346=)
|
rs145947530
|
0.00064
|
|
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=)
|
rs79157191
|
0.00064
|
|
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)
|
rs201298102
|
0.00064
|
|
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg)
|
rs745604653
|
0.00064
|
|
NM_014362.4(HIBCH):c.36-13A>T
|
rs199859881
|
0.00064
|
|
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
|
rs142513139
|
0.00064
|
|
NM_201253.3(CRB1):c.1647T>C (p.Asn549=)
|
rs62636283
|
0.00064
|
|
NM_000320.3(QDPR):c.600C>G (p.Ser200Arg)
|
rs112242659
|
0.00063
|
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
|
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu)
|
rs145792427
|
0.00063
|
|
NM_004453.4(ETFDH):c.627T>C (p.Gly209=)
|
rs148708761
|
0.00063
|
|
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
|
rs368279501
|
0.00063
|
|
NM_005629.4(SLC6A8):c.777+4C>T
|
rs201581661
|
0.00063
|
|
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=)
|
rs145180240
|
0.00063
|
|
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu)
|
rs200505085
|
0.00063
|
|
NM_201253.3(CRB1):c.3750-3T>C
|
rs187937543
|
0.00063
|
|
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=)
|
rs374403946
|
0.00062
|
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
|
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
|
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)
|
rs35501596
|
0.00061
|
|
NM_000048.4(ASL):c.242T>C (p.Leu81Pro)
|
rs141046612
|
0.00061
|
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
|
NM_000170.3(GLDC):c.2730G>A (p.Ser910=)
|
rs144937031
|
0.00061
|
|
NM_000182.5(HADHA):c.809C>T (p.Ala270Val)
|
rs141429393
|
0.00061
|
|
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=)
|
rs140941507
|
0.00061
|
|
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile)
|
rs11568513
|
0.00061
|
|
NM_005957.5(MTHFR):c.1032-6A>G
|
rs2066464
|
0.00061
|
|
NM_012213.3(MLYCD):c.541G>A (p.Val181Met)
|
rs147617160
|
0.00061
|
|
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile)
|
rs143491198
|
0.00061
|
|
NM_015662.3(IFT172):c.786-12A>G
|
rs373665754
|
0.00061
|
|
NM_020166.5(MCCC1):c.1731+6C>A
|
rs369754994
|
0.00061
|
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
|
NM_177550.5(SLC13A5):c.232-11C>T
|
rs112805825
|
0.00061
|
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
|
NM_000187.4(HGD):c.1128C>G (p.Asp376Glu)
|
rs150145204
|
0.00060
|
|
NM_000282.4(PCCA):c.870C>T (p.Cys290=)
|
rs141174380
|
0.00060
|
|
NM_000360.4(TH):c.90+907A>G
|
rs1262784684
|
0.00060
|
|
NM_000554.6(CRX):c.28C>G (p.His10Asp)
|
rs139340178
|
0.00060
|
|
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)
|
rs142482046
|
0.00060
|
|
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=)
|
rs199854716
|
0.00060
|
|
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile)
|
rs58639322
|
0.00060
|
|
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
|
rs147294932
|
0.00060
|
|
NM_014251.3(SLC25A13):c.1230+11T>C
|
rs201352939
|
0.00060
|
|
NM_014252.4(SLC25A15):c.683A>T (p.Tyr228Phe)
|
rs201625549
|
0.00060
|
|
NM_205861.3(DHDDS):c.542+8G>A
|
rs149948788
|
0.00060
|
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
|
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)
|
rs74790259
|
0.00059
|
|
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=)
|
rs150705788
|
0.00059
|
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
|
NM_016335.6(PRODH):c.822C>T (p.Asp274=)
|
rs146178333
|
0.00059
|
|
NM_016579.4(CD320):c.438T>C (p.Ile146=)
|
rs146218039
|
0.00059
|
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
|
NM_000170.3(GLDC):c.936C>T (p.Ile312=)
|
rs79057118
|
0.00058
|
|
NM_000182.5(HADHA):c.1212G>C (p.Val404=)
|
rs116396996
|
0.00058
|
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
|
NM_001002755.4(NFU1):c.167-13T>G
|
rs181762580
|
0.00058
|
|
NM_001127222.2(CACNA1A):c.6527-19T>C
|
rs375949210
|
0.00058
|
|
NM_001609.4(ACADSB):c.1228+8G>C
|
rs202191462
|
0.00058
|
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
|
NM_002454.3(MTRR):c.879T>C (p.Thr293=)
|
rs773629167
|
0.00058
|
|
NM_003042.4(SLC6A1):c.1191+18G>A
|
rs373250372
|
0.00058
|
|
NM_003042.4(SLC6A1):c.801C>T (p.Gly267=)
|
rs150519659
|
0.00058
|
|
NM_004937.3(CTNS):c.534C>T (p.Ile178=)
|
rs113967200
|
0.00058
|
|
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
|
rs200399318
|
0.00058
|
|
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
|
rs148616219
|
0.00058
|
|
NM_032601.4(MCEE):c.312T>G (p.Arg104=)
|
rs142838031
|
0.00058
|
|
NM_000048.4(ASL):c.399G>A (p.Ser133=)
|
rs141584041
|
0.00057
|
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
|
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)
|
rs776791710
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
|
NM_004975.4(KCNB1):c.2136G>A (p.Thr712=)
|
rs139458439
|
0.00057
|
|
NM_005629.4(SLC6A8):c.1597-19G>A
|
rs202118923
|
0.00057
|
|
NM_016335.6(PRODH):c.703C>T (p.Leu235Phe)
|
rs534685286
|
0.00057
|
|
NM_018706.7(DHTKD1):c.1041G>A (p.Thr347=)
|
rs181104203
|
0.00057
|
|
NM_020686.6(ABAT):c.267C>T (p.Asp89=)
|
rs199666932
|
0.00057
|
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
|
NM_000017.4(ACADS):c.669G>A (p.Thr223=)
|
rs17848089
|
0.00056
|
|
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)
|
rs192232907
|
0.00056
|
|
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=)
|
rs142141929
|
0.00056
|
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
|
NM_001024845.3(SLC6A9):c.501T>C (p.Asn167=)
|
rs148755700
|
0.00056
|
|
NM_001243279.3(ACSF3):c.1614-10G>C
|
rs370941606
|
0.00056
|
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
|
NM_001876.4(CPT1A):c.142-17C>G
|
rs201203984
|
0.00056
|
|
NM_002454.3(MTRR):c.1058-16G>A
|
rs201644712
|
0.00056
|
|
NM_003060.4(SLC22A5):c.1142T>C (p.Met381Thr)
|
rs149730454
|
0.00056
|
|
NM_018706.7(DHTKD1):c.1300G>A (p.Gly434Ser)
|
rs145036232
|
0.00056
|
|
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys)
|
rs147116804
|
0.00056
|
|
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
|
rs149017703
|
0.00056
|
|
NM_058179.4(PSAT1):c.445G>A (p.Val149Met)
|
rs142975997
|
0.00056
|
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
|
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
|
NM_003982.4(SLC7A7):c.234C>T (p.Val78=)
|
rs139776370
|
0.00055
|
|
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr)
|
rs200997332
|
0.00055
|
|
NM_005881.4(BCKDK):c.249C>T (p.Asp83=)
|
rs138821043
|
0.00055
|
|
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=)
|
rs370278897
|
0.00055
|
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
|
NM_000187.4(HGD):c.360T>C (p.Cys120=)
|
rs149165166
|
0.00054
|
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
|
NM_001875.5(CPS1):c.195C>T (p.Ser65=)
|
rs192759073
|
0.00054
|
|
NM_001876.4(CPT1A):c.2142+8C>T
|
rs147563740
|
0.00054
|
|
NM_003060.4(SLC22A5):c.75C>T (p.Leu25=)
|
rs144054688
|
0.00054
|
|
NM_014384.3(ACAD8):c.110-17T>C
|
rs372435194
|
0.00054
|
|
NC_000022.11:g.40345568C>A
|
rs1358901512
|
0.00053
|
|
NM_000137.4(FAH):c.181G>T (p.Val61Phe)
|
rs151264725
|
0.00053
|
|
NM_000137.4(FAH):c.837+9A>T
|
rs369092208
|
0.00053
|
|
NM_000709.4(BCKDHA):c.289-5C>T
|
rs200646708
|
0.00053
|
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
|
NM_001609.4(ACADSB):c.67T>G (p.Leu23Val)
|
rs149562178
|
0.00053
|
|
NM_001875.5(CPS1):c.529-11T>A
|
rs186719380
|
0.00053
|
|
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=)
|
rs188173541
|
0.00053
|
|
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=)
|
rs139315755
|
0.00053
|
|
NM_000687.4(AHCY):c.29-16C>T
|
rs150128901
|
0.00052
|
|
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val)
|
rs61736656
|
0.00052
|
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
|
NM_003060.4(SLC22A5):c.1341C>T (p.Tyr447=)
|
rs58188318
|
0.00052
|
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
|
NM_012213.3(MLYCD):c.232C>T (p.Leu78=)
|
rs541503395
|
0.00052
|
|
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser)
|
rs75622628
|
0.00052
|
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
|
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu)
|
rs139457557
|
0.00051
|
|
NM_000017.4(ACADS):c.1053C>T (p.Ala351=)
|
rs145594828
|
0.00051
|
|
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)
|
rs150518187
|
0.00051
|
|
NM_000071.3(CBS):c.531+19G>A
|
rs950515567
|
0.00051
|
|
NM_000071.3(CBS):c.829-14C>T
|
rs370697155
|
0.00051
|
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
|
NM_000170.3(GLDC):c.470+11T>C
|
rs142534180
|
0.00051
|
|
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr)
|
rs143740561
|
0.00051
|
|
NM_001024845.3(SLC6A9):c.1290C>T (p.Gly430=)
|
rs137855830
|
0.00051
|
|
NM_001243279.3(ACSF3):c.978-7C>T
|
rs190927208
|
0.00051
|
|
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
|
rs144777839
|
0.00051
|
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
|
NM_002150.3(HPD):c.898C>A (p.Arg300=)
|
rs149281612
|
0.00051
|
|
NM_006623.4(PHGDH):c.834C>A (p.Val278=)
|
rs147866831
|
0.00051
|
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
|
NM_016335.6(PRODH):c.14G>A (p.Arg5His)
|
rs549947897
|
0.00051
|
|
NM_016579.4(CD320):c.722G>A (p.Ser241Asn)
|
rs140803270
|
0.00051
|
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
|
NM_000240.4(MAOA):c.1375-17T>C
|
rs368285679
|
0.00050
|
|
NM_000329.3(RPE65):c.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
|
NM_000532.5(PCCB):c.603T>C (p.Ala201=)
|
rs141340198
|
0.00050
|
|
NM_000687.4(AHCY):c.390C>T (p.Asp130=)
|
rs143931269
|
0.00050
|
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
|
NM_001875.5(CPS1):c.2829+19T>C
|
rs370788477
|
0.00050
|
|
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr)
|
rs200111698
|
0.00050
|
|
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
|
rs376756703
|
0.00050
|
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
|
NM_000170.3(GLDC):c.2328C>T (p.Leu776=)
|
rs149600380
|
0.00049
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
|
NM_001258392.3(CLPB):c.1560+11T>C
|
rs113954132
|
0.00049
|
|
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp)
|
rs139646715
|
0.00049
|
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
|
NM_001875.5(CPS1):c.1707+15dup
|
rs567549478
|
0.00049
|
|
NM_001875.5(CPS1):c.1707+16T>C
|
rs565200384
|
0.00049
|
|
NM_001918.5(DBT):c.1210-11T>A
|
rs751951997
|
0.00049
|
|
NM_001958.5(EEF1A2):c.279C>T (p.Pro93=)
|
rs142072676
|
0.00049
|
|
NM_003982.4(SLC7A7):c.500-20C>G
|
rs375933584
|
0.00049
|
|
NM_004483.5(GCSH):c.33C>T (p.Ala11=)
|
rs760969799
|
0.00049
|
|
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)
|
rs139229844
|
0.00049
|
|
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
|
rs138937107
|
0.00049
|
|
NM_177550.5(SLC13A5):c.716+15G>A
|
rs377090828
|
0.00049
|
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
|
NM_000137.4(FAH):c.81+12G>A
|
rs200319726
|
0.00048
|
|
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met)
|
rs144991102
|
0.00048
|
|
NM_001127222.2(CACNA1A):c.3693-20C>T
|
rs200082880
|
0.00048
|
|
NM_001258392.3(CLPB):c.723C>T (p.His241=)
|
rs368930954
|
0.00048
|
|
NM_002150.3(HPD):c.294C>T (p.Phe98=)
|
rs117079110
|
0.00048
|
|
NM_003748.4(ALDH4A1):c.767C>G (p.Pro256Arg)
|
rs143835001
|
0.00048
|
|
NM_006859.4(LIAS):c.807G>A (p.Gln269=)
|
rs140846573
|
0.00048
|
|
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=)
|
rs199549095
|
0.00048
|
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
0.00048
|
|
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=)
|
rs150862707
|
0.00048
|
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
|
NM_000026.4(ADSL):c.1191+9C>T
|
rs371706528
|
0.00047
|
|
NM_000170.3(GLDC):c.1155+91C>T
|
rs779753406
|
0.00047
|
|
NM_000182.5(HADHA):c.567C>T (p.Pro189=)
|
rs183297747
|
0.00047
|
|
NM_000320.3(QDPR):c.148G>A (p.Ala50Thr)
|
rs143937910
|
0.00047
|
|
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)
|
rs148188703
|
0.00047
|
|
NM_001271.4(CHD2):c.2001-15C>G
|
rs201137739
|
0.00047
|
|
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=)
|
rs144292068
|
0.00047
|
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
0.00047
|
|
NM_005629.4(SLC6A8):c.1016+9C>T
|
rs190690083
|
0.00047
|
|
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=)
|
rs115639310
|
0.00047
|
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
|
NM_000026.4(ADSL):c.27G>T (p.Ser9=)
|
rs146873132
|
0.00046
|
|
NM_000048.4(ASL):c.291+4C>T
|
rs368188924
|
0.00046
|
|
NM_000274.4(OAT):c.1015-6A>G
|
rs561800688
|
0.00046
|
|
NM_000320.3(QDPR):c.588G>C (p.Glu196Asp)
|
rs112209600
|
0.00046
|
|
NM_001243279.3(ACSF3):c.1614-6C>T
|
rs368789945
|
0.00046
|
|
NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser)
|
rs200886053
|
0.00046
|
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
|
NM_001958.5(EEF1A2):c.375G>A (p.Ala125=)
|
rs2274861
|
0.00046
|
|
NM_002454.3(MTRR):c.540G>A (p.Val180=)
|
rs149037732
|
0.00046
|
|
NM_005050.4(ABCD4):c.425+13A>G
|
rs370752716
|
0.00046
|
|
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln)
|
rs138511988
|
0.00046
|
|
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys)
|
rs147744868
|
0.00046
|
|
NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)
|
rs142409945
|
0.00046
|
|
NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile)
|
rs149117098
|
0.00046
|
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
|
NM_201253.3(CRB1):c.3878+15A>T
|
rs200217112
|
0.00046
|
|
NM_000026.4(ADSL):c.702-7T>C
|
rs201509960
|
0.00045
|
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
|
NM_000170.3(GLDC):c.45G>A (p.Gly15=)
|
rs577986419
|
0.00045
|
|
NM_001080.3(ALDH5A1):c.355-9C>G
|
rs375453445
|
0.00045
|
|
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=)
|
rs374511141
|
0.00045
|
|
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
|
rs144942416
|
0.00045
|
|
NM_003042.4(SLC6A1):c.849+20C>T
|
rs6341
|
0.00045
|
|
NM_004975.4(KCNB1):c.2363C>A (p.Thr788Lys)
|
rs140932985
|
0.00045
|
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
|
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
|
rs144203670
|
0.00045
|
|
NM_032861.4(SERAC1):c.1404-3C>G
|
rs367596327
|
0.00045
|
|
NM_054012.4(ASS1):c.175-16G>T
|
rs373936572
|
0.00045
|
|
NM_201253.3(CRB1):c.2398A>G (p.Ile800Val)
|
rs74846670
|
0.00045
|
|
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)
|
rs142090517
|
0.00045
|
|
NM_000019.4(ACAT1):c.1164-15C>T
|
rs185613183
|
0.00044
|
|
NM_000170.3(GLDC):c.166C>T (p.Leu56Phe)
|
rs374342418
|
0.00044
|
|
NM_000282.4(PCCA):c.1002C>T (p.Thr334=)
|
rs150106872
|
0.00044
|
|
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His)
|
rs144162964
|
0.00044
|
|
NM_001258392.3(CLPB):c.455+8G>C
|
rs200993434
|
0.00044
|
|
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)
|
rs199762141
|
0.00044
|
|
NM_003748.4(ALDH4A1):c.1098G>A (p.Gly366=)
|
rs147471420
|
0.00044
|
|
NM_032601.4(MCEE):c.66C>T (p.Pro22=)
|
rs151148238
|
0.00044
|
|
NM_145261.4(DNAJC19):c.300A>G (p.Ala100=)
|
rs373886730
|
0.00044
|
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
|
NM_000017.4(ACADS):c.360+15A>G
|
rs770784767
|
0.00043
|
|
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)
|
rs192833530
|
0.00043
|
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
|
NM_000709.4(BCKDHA):c.288C>T (p.His96=)
|
rs148571328
|
0.00043
|
|
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)
|
rs148733464
|
0.00043
|
|
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=)
|
rs780294227
|
0.00043
|
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
|
NM_001876.4(CPT1A):c.144C>T (p.Asn48=)
|
rs182451427
|
0.00043
|
|
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr)
|
rs201082652
|
0.00043
|
|
NM_004937.3(CTNS):c.853-15G>A
|
rs376050426
|
0.00043
|
|
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=)
|
rs377161125
|
0.00043
|
|
NM_015662.3(IFT172):c.2023-15C>A
|
rs377630264
|
0.00043
|
|
NM_022132.5(MCCC2):c.328G>A (p.Asp110Asn)
|
rs145438308
|
0.00043
|
|
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile)
|
rs115387731
|
0.00043
|
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
|
NM_000254.3(MTR):c.1959A>C (p.Gln653His)
|
rs562769000
|
0.00042
|
|
NM_000276.4(OCRL):c.1657A>G (p.Ile553Val)
|
rs773281269
|
0.00042
|
|
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys)
|
rs149813423
|
0.00042
|
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
|
NM_000387.6(SLC25A20):c.226G>C (p.Ala76Pro)
|
rs150516570
|
0.00042
|
|
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=)
|
rs61741139
|
0.00042
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
|
rs774205809
|
0.00042
|
|
NM_002860.4(ALDH18A1):c.1314C>T (p.Ile438=)
|
rs150526956
|
0.00042
|
|
NM_002860.4(ALDH18A1):c.1381G>A (p.Ala461Thr)
|
rs150429857
|
0.00042
|
|
NM_004937.3(CTNS):c.562-20T>C
|
rs764063960
|
0.00042
|
|
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=)
|
rs140601882
|
0.00042
|
|
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val)
|
rs375935118
|
0.00042
|
|
NM_020686.6(ABAT):c.109G>A (p.Val37Ile)
|
rs140119176
|
0.00042
|
|
NM_000018.4(ACADVL):c.1077+15C>T
|
rs202237278
|
0.00041
|
|
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn)
|
rs111253965
|
0.00041
|
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
|
NM_000137.4(FAH):c.243G>A (p.Ala81=)
|
rs36122289
|
0.00041
|
|
NM_000137.4(FAH):c.706+9T>C
|
rs368042270
|
0.00041
|
|
NM_000170.3(GLDC):c.2202+19C>T
|
rs187370615
|
0.00041
|
|
NM_000687.4(AHCY):c.636C>T (p.Ala212=)
|
rs141172613
|
0.00041
|
|
NM_001080.3(ALDH5A1):c.1531G>A (p.Gly511Ser)
|
rs377658514
|
0.00041
|
|
NM_001127222.2(CACNA1A):c.5732-6T>C
|
rs16043
|
0.00041
|
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
|
NM_001271.4(CHD2):c.1810-3T>C
|
rs189339982
|
0.00041
|
|
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
|
NM_001876.4(CPT1A):c.2260C>T (p.Leu754=)
|
rs144781827
|
0.00041
|
|
NM_001958.5(EEF1A2):c.357C>T (p.Gly119=)
|
rs143241534
|
0.00041
|
|
NM_001958.5(EEF1A2):c.772+13G>A
|
rs376455856
|
0.00041
|
|
NM_002150.3(HPD):c.895C>T (p.Leu299=)
|
rs144544907
|
0.00041
|
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
|
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp)
|
rs147795328
|
0.00041
|
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
0.00041
|
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
|
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)
|
rs141440865
|
0.00041
|
|
NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)
|
rs201680688
|
0.00041
|
|
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
|
rs559384926
|
0.00041
|
|
NM_058179.4(PSAT1):c.665G>A (p.Arg222Gln)
|
rs114496656
|
0.00041
|
|
NM_177550.5(SLC13A5):c.690C>T (p.Asn230=)
|
rs146385318
|
0.00041
|
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
|
NM_000532.5(PCCB):c.914T>G (p.Ile305Ser)
|
rs144907014
|
0.00040
|
|
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=)
|
rs202126055
|
0.00040
|
|
NM_001258392.3(CLPB):c.159G>A (p.Gly53=)
|
rs146260335
|
0.00040
|
|
NM_001271.4(CHD2):c.2337A>G (p.Gly779=)
|
rs138084718
|
0.00040
|
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
|
NM_004937.3(CTNS):c.561+4C>T
|
rs111256750
|
0.00040
|
|
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
|
rs377463848
|
0.00040
|
|
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)
|
rs782384589
|
0.00040
|
|
NM_032861.4(SERAC1):c.1308+7G>A
|
rs201873667
|
0.00040
|
|
NM_177550.5(SLC13A5):c.1576-13G>A
|
rs377340234
|
0.00040
|
|
NM_177550.5(SLC13A5):c.369-17C>T
|
rs372696631
|
0.00040
|
|
NM_177550.5(SLC13A5):c.582G>A (p.Gly194=)
|
rs147260918
|
0.00040
|
|
NM_000017.4(ACADS):c.624+8C>T
|
rs371550264
|
0.00039
|
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
|
NM_000026.4(ADSL):c.270T>C (p.Ala90=)
|
rs143275316
|
0.00039
|
|
NM_000045.4(ARG1):c.57G>A (p.Gln19=)
|
rs150766204
|
0.00039
|
|
NM_000045.4(ARG1):c.803-8T>C
|
rs374805901
|
0.00039
|
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
|
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn)
|
rs200436145
|
0.00039
|
|
NM_000532.5(PCCB):c.1485T>G (p.Pro495=)
|
rs151094095
|
0.00039
|
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
|
NM_001258392.3(CLPB):c.1287C>T (p.Ala429=)
|
rs143482511
|
0.00039
|
|
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser)
|
rs144395162
|
0.00039
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_001698.3(AUH):c.730G>A (p.Asp244Asn)
|
rs202182817
|
0.00039
|
|
NM_001875.5(CPS1):c.2391+20C>T
|
rs376315320
|
0.00039
|
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
|
NM_001876.4(CPT1A):c.336C>T (p.Thr112=)
|
rs61731902
|
0.00039
|
|
NM_002150.3(HPD):c.954+14A>C
|
rs200866898
|
0.00039
|
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
|
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val)
|
rs28383480
|
0.00039
|
|
NM_003060.4(SLC22A5):c.272A>G (p.Asn91Ser)
|
rs546442503
|
0.00039
|
|
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=)
|
rs146720775
|
0.00039
|
|
NM_004408.4(DNM1):c.1707C>T (p.Asn569=)
|
rs145318071
|
0.00039
|
|
NM_016335.6(PRODH):c.1170C>T (p.Ile390=)
|
rs552700874
|
0.00039
|
|
NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)
|
rs142858149
|
0.00039
|
|
NM_000017.4(ACADS):c.1029+20A>C
|
rs370161104
|
0.00038
|
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
|
NM_000071.3(CBS):c.1380G>A (p.Thr460=)
|
rs765134080
|
0.00038
|
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
|
NM_000137.4(FAH):c.462C>A (p.His154Gln)
|
rs144234072
|
0.00038
|
|
NM_000159.4(GCDH):c.636-18C>T
|
rs183109666
|
0.00038
|
|
NM_000182.5(HADHA):c.1153C>T (p.Leu385=)
|
rs139485335
|
0.00038
|
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
|
NM_000274.4(OAT):c.900+9C>A
|
rs372834151
|
0.00038
|
|
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=)
|
rs140322984
|
0.00038
|
|
NM_000709.4(BCKDHA):c.646+13G>A
|
rs201333801
|
0.00038
|
|
NM_001024845.3(SLC6A9):c.1641C>T (p.Ser547=)
|
rs144741950
|
0.00038
|
|
NM_001024845.3(SLC6A9):c.859-18A>G
|
rs202227083
|
0.00038
|
|
NM_001271.4(CHD2):c.3886-14C>T
|
rs368361932
|
0.00038
|
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
|
NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala)
|
rs144744634
|
0.00038
|
|
NM_005629.4(SLC6A8):c.1496-8C>T
|
rs376038235
|
0.00038
|
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
|
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=)
|
rs372909374
|
0.00038
|
|
NM_000048.4(ASL):c.1200C>G (p.Thr400=)
|
rs370291313
|
0.00037
|
|
NM_000159.4(GCDH):c.531C>T (p.Phe177=)
|
rs144013229
|
0.00037
|
|
NM_000320.3(QDPR):c.450C>T (p.Tyr150=)
|
rs140949360
|
0.00037
|
|
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val)
|
rs138597262
|
0.00037
|
|
NM_001258392.3(CLPB):c.776-10_776-8del
|
rs572621494
|
0.00037
|
|
NM_001278293.3(ARL6):c.493A>G (p.Ile165Val)
|
rs146978266
|
0.00037
|
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
|
NM_001609.4(ACADSB):c.375dup (p.Glu126fs)
|
rs756587384
|
0.00037
|
|
NM_001876.4(CPT1A):c.1557G>A (p.Gln519=)
|
rs149983153
|
0.00037
|
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
|
NM_016335.6(PRODH):c.1104+16C>T
|
rs182795102
|
0.00037
|
|
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)
|
rs150305281
|
0.00037
|
|
NM_020166.5(MCCC1):c.267A>C (p.Val89=)
|
rs369138447
|
0.00037
|
|
NM_000016.6(ACADM):c.945+19G>A
|
rs200091478
|
0.00036
|
|
NM_000026.4(ADSL):c.363G>A (p.Leu121=)
|
rs138203195
|
0.00036
|
|
NM_000156.6(GAMT):c.227C>T (p.Ser76Leu)
|
rs150338273
|
0.00036
|
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
|
NM_000254.3(MTR):c.3712-7T>G
|
rs151081130
|
0.00036
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_000277.3(PAH):c.609C>T (p.Cys203=)
|
rs1801147
|
0.00036
|
|
NM_000282.4(PCCA):c.2055A>G (p.Gln685=)
|
rs147568036
|
0.00036
|
|
NM_000709.4(BCKDHA):c.664G>A (p.Ala222Thr)
|
rs141086188
|
0.00036
|
|
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=)
|
rs559862641
|
0.00036
|
|
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=)
|
rs368042511
|
0.00036
|
|
NM_001258392.3(CLPB):c.874-12C>G
|
rs201936481
|
0.00036
|
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
|
NM_001876.4(CPT1A):c.1983C>T (p.Tyr661=)
|
rs374136875
|
0.00036
|
|
NM_001876.4(CPT1A):c.930G>C (p.Arg310=)
|
rs147373480
|
0.00036
|
|
NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
|
NM_004408.4(DNM1):c.1437C>T (p.Ile479=)
|
rs141788807
|
0.00036
|
|
NM_004937.3(CTNS):c.94G>A (p.Val32Ile)
|
rs146684402
|
0.00036
|
|
NM_004975.4(KCNB1):c.177G>A (p.Lys59=)
|
rs117017889
|
0.00036
|
|
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn)
|
rs201526436
|
0.00036
|
|
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp)
|
rs184506506
|
0.00036
|
|
NM_016335.6(PRODH):c.1465G>A (p.Ala489Thr)
|
rs370003523
|
0.00036
|
|
NM_018706.7(DHTKD1):c.2319G>A (p.Pro773=)
|
rs145738102
|
0.00036
|
|
NM_025136.4(OPA3):c.143-7C>T
|
rs375551151
|
0.00036
|
|
NM_032861.4(SERAC1):c.1259T>C (p.Ile420Thr)
|
rs114741005
|
0.00036
|
|
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)
|
rs114493681
|
0.00036
|
|
NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)
|
rs149034301
|
0.00036
|
|
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)
|
rs140428156
|
0.00036
|
|
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)
|
rs149436747
|
0.00035
|
|
NM_000018.4(ACADVL):c.286G>A (p.Glu96Lys)
|
rs139427392
|
0.00035
|
|
NM_000071.3(CBS):c.1223+13G>A
|
rs533660793
|
0.00035
|
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
|
NM_000276.4(OCRL):c.954C>T (p.Arg318=)
|
rs149646700
|
0.00035
|
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
|
NM_000277.3(PAH):c.969+20G>A
|
rs201083544
|
0.00035
|
|
NM_000282.4(PCCA):c.2037C>T (p.Asp679=)
|
rs146870931
|
0.00035
|
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
|
NM_003060.4(SLC22A5):c.605T>C (p.Leu202Pro)
|
rs142447950
|
0.00035
|
|
NM_003982.4(SLC7A7):c.543C>G (p.Thr181=)
|
rs145777568
|
0.00035
|
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
|
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)
|
rs200053475
|
0.00035
|
|
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)
|
rs190844812
|
0.00035
|
|
NM_005334.3(HCFC1):c.4943-11C>T
|
rs375388306
|
0.00035
|
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
|
NM_015662.3(IFT172):c.3474C>T (p.Phe1158=)
|
rs534566990
|
0.00035
|
|
NM_054012.4(ASS1):c.322C>T (p.Arg108Trp)
|
rs143405567
|
0.00035
|
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
|
NM_177550.5(SLC13A5):c.1230C>T (p.Ile410=)
|
rs149447388
|
0.00035
|
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
|
NM_000018.4(ACADVL):c.587C>T (p.Ala196Val)
|
rs201370388
|
0.00034
|
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
|
NM_000170.3(GLDC):c.698T>C (p.Val233Ala)
|
rs140013612
|
0.00034
|
|
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile)
|
rs146406360
|
0.00034
|
|
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile)
|
rs147298607
|
0.00034
|
|
NM_000254.3(MTR):c.1953+6G>C
|
rs147410975
|
0.00034
|
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
|
NM_000329.3(RPE65):c.102C>A (p.Ile34=)
|
rs146357166
|
0.00034
|
|
NM_000329.3(RPE65):c.1435T>C (p.Leu479=)
|
rs373882259
|
0.00034
|
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
|
NM_001010867.4(IBA57):c.341+9G>A
|
rs370043210
|
0.00034
|
|
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)
|
rs140163897
|
0.00034
|
|
NM_001127222.2(CACNA1A):c.1199-17G>C
|
rs190836274
|
0.00034
|
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
|
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=)
|
rs146779456
|
0.00034
|
|
NM_001609.4(ACADSB):c.990+11A>T
|
rs376944892
|
0.00034
|
|
NM_001876.4(CPT1A):c.492G>A (p.Leu164=)
|
rs200836324
|
0.00034
|
|
NM_003748.4(ALDH4A1):c.1073A>G (p.His358Arg)
|
rs145243354
|
0.00034
|
|
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp)
|
rs147219158
|
0.00034
|
|
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile)
|
rs140932636
|
0.00034
|
|
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
0.00034
|
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
|
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)
|
rs200577062
|
0.00034
|
|
NM_005518.4(HMGCS2):c.1017-18C>T
|
rs373664352
|
0.00034
|
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
|
NM_020166.5(MCCC1):c.438A>G (p.Gly146=)
|
rs139987877
|
0.00034
|
|
NM_022132.5(MCCC2):c.1374-10C>T
|
rs766032118
|
0.00034
|
|
NM_025136.4(OPA3):c.143-14C>T
|
rs368939051
|
0.00034
|
|
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
|
rs146896149
|
0.00034
|
|
NM_054012.4(ASS1):c.411C>T (p.Pro137=)
|
rs139250536
|
0.00034
|
|
NM_058179.4(PSAT1):c.795G>A (p.Ala265=)
|
rs184256039
|
0.00034
|
|
NM_000017.4(ACADS):c.47C>T (p.Ala16Val)
|
rs147494970
|
0.00033
|
|
NM_000156.6(GAMT):c.182-18C>T
|
rs376709081
|
0.00033
|
|
NM_000554.6(CRX):c.597C>T (p.Ser199=)
|
rs61748455
|
0.00033
|
|
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser)
|
rs567825969
|
0.00033
|
|
NM_001609.4(ACADSB):c.1187A>C (p.Lys396Thr)
|
rs148640214
|
0.00033
|
|
NM_001876.4(CPT1A):c.2013C>T (p.Ser671=)
|
rs755323437
|
0.00033
|
|
NM_003982.4(SLC7A7):c.91G>C (p.Val31Leu)
|
rs142956369
|
0.00033
|
|
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser)
|
rs199635059
|
0.00033
|
|
NM_006859.4(LIAS):c.944G>A (p.Arg315His)
|
rs145535775
|
0.00033
|
|
NM_014252.4(SLC25A15):c.632C>T (p.Pro211Leu)
|
rs139034961
|
0.00033
|
|
NM_016335.6(PRODH):c.1560C>T (p.His520=)
|
rs142972542
|
0.00033
|
|
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
|
rs148332041
|
0.00033
|
|
NM_022132.5(MCCC2):c.738+9A>G
|
rs776559643
|
0.00033
|
|
NM_153006.3(NAGS):c.246G>A (p.Pro82=)
|
rs747154237
|
0.00033
|
|
NM_000159.4(GCDH):c.1044C>T (p.His348=)
|
rs140134376
|
0.00032
|
|
NM_000170.3(GLDC):c.2147T>A (p.Leu716His)
|
rs145018304
|
0.00032
|
|
NM_000170.3(GLDC):c.471-14T>C
|
rs374248745
|
0.00032
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
|
NM_000277.3(PAH):c.969+7C>T
|
rs80324017
|
0.00032
|
|
NM_000481.4(AMT):c.101G>A (p.Arg34His)
|
rs138259479
|
0.00032
|
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
|
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)
|
rs151294087
|
0.00032
|
|
NM_001080.3(ALDH5A1):c.175C>T (p.Leu59=)
|
rs907112605
|
0.00032
|
|
NM_001258392.3(CLPB):c.404-16C>T
|
rs371250603
|
0.00032
|
|
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
|
rs146895312
|
0.00032
|
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
|
NM_001352514.2(HLCS):c.2544C>T (p.Gly848=)
|
rs142437842
|
0.00032
|
|
NM_001698.3(AUH):c.807G>A (p.Arg269=)
|
rs145208407
|
0.00032
|
|
NM_002225.5(IVD):c.229C>T (p.Leu77=)
|
rs143807229
|
0.00032
|
|
NM_002860.4(ALDH18A1):c.492C>T (p.Ala164=)
|
rs150472102
|
0.00032
|
|
NM_002860.4(ALDH18A1):c.933+13T>C
|
rs201520042
|
0.00032
|
|
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)
|
rs6343
|
0.00032
|
|
NM_004974.4(KCNA2):c.903C>T (p.Val301=)
|
rs752322953
|
0.00032
|
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00032
|
|
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr)
|
rs374163604
|
0.00032
|
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
|
NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys)
|
rs35124955
|
0.00032
|
|
NM_014251.3(SLC25A13):c.1230A>C (p.Thr410=)
|
rs150021522
|
0.00032
|
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
|
NM_177550.5(SLC13A5):c.801C>T (p.Phe267=)
|
rs200645836
|
0.00032
|
|
NC_000022.11:g.40346253G>A
|
rs912673794
|
0.00031
|
|
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr)
|
rs150710061
|
0.00031
|
|
NM_000017.4(ACADS):c.795+9G>A
|
rs370703070
|
0.00031
|
|
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu)
|
rs149133229
|
0.00031
|
|
NM_000182.5(HADHA):c.1689+11C>T
|
rs367640259
|
0.00031
|
|
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys)
|
rs143832445
|
0.00031
|
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
|
NM_000387.6(SLC25A20):c.720A>G (p.Ala240=)
|
rs142417191
|
0.00031
|
|
NM_000481.4(AMT):c.825T>A (p.Asn275Lys)
|
rs144241950
|
0.00031
|
|
NM_000532.5(PCCB):c.180G>A (p.Lys60=)
|
rs140636870
|
0.00031
|
|
NM_001002755.4(NFU1):c.303-19A>G
|
rs141033711
|
0.00031
|
|
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=)
|
rs16036
|
0.00031
|
|
NM_001243279.3(ACSF3):c.327C>T (p.Val109=)
|
rs141517318
|
0.00031
|
|
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr)
|
rs375374971
|
0.00031
|
|
NM_001258392.3(CLPB):c.1164C>T (p.His388=)
|
rs202009794
|
0.00031
|
|
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=)
|
rs141458508
|
0.00031
|
|
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu)
|
rs370464322
|
0.00031
|
|
NM_001271.4(CHD2):c.3455+19T>C
|
rs200427035
|
0.00031
|
|
NM_004483.5(GCSH):c.72G>T (p.Ala24=)
|
rs1010129827
|
0.00031
|
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
|
NM_005957.5(MTHFR):c.203G>A (p.Arg68Gln)
|
rs2066472
|
0.00031
|
|
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)
|
rs369466577
|
0.00031
|
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
0.00031
|
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
|
NM_054012.4(ASS1):c.333C>T (p.Ala111=)
|
rs141568959
|
0.00031
|
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
|
NM_201253.3(CRB1):c.3399G>T (p.Val1133=)
|
rs146793724
|
0.00031
|
|
NM_205861.3(DHDDS):c.912C>G (p.Ala304=)
|
rs747231238
|
0.00031
|
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
|
NM_000687.4(AHCY):c.882C>G (p.Ala294=)
|
rs376464023
|
0.00030
|
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
|
NM_002225.5(IVD):c.961-6G>A
|
rs199783007
|
0.00030
|
|
NM_005050.4(ABCD4):c.1637-10G>A
|
rs201148020
|
0.00030
|
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
|
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg)
|
rs182600362
|
0.00030
|
|
NM_014384.3(ACAD8):c.466G>T (p.Ala156Ser)
|
rs201273972
|
0.00030
|
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
|
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)
|
rs145541911
|
0.00030
|
|
NM_020686.6(ABAT):c.684G>A (p.Thr228=)
|
rs148143485
|
0.00030
|
|
NM_000018.4(ACADVL):c.1678+15C>T
|
rs371402802
|
0.00029
|
|
NM_000045.4(ARG1):c.594T>C (p.Phe198=)
|
rs149496218
|
0.00029
|
|
NM_000071.3(CBS):c.1479G>A (p.Thr493=)
|
rs143225442
|
0.00029
|
|
NM_000071.3(CBS):c.600G>A (p.Pro200=)
|
rs181472622
|
0.00029
|
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
|
NM_000161.3(GCH1):c.507G>A (p.Ala169=)
|
rs150158277
|
0.00029
|
|
NM_000170.3(GLDC):c.329C>A (p.Pro110His)
|
rs371491621
|
0.00029
|
|
NM_000182.5(HADHA):c.315-12T>C
|
rs531815564
|
0.00029
|
|
NM_000191.3(HMGCL):c.604C>T (p.Leu202=)
|
rs146602259
|
0.00029
|
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
|
NM_000320.3(QDPR):c.545+12G>A
|
rs372540886
|
0.00029
|
|
NM_000353.3(TAT):c.1046A>G (p.Asn349Ser)
|
rs138304751
|
0.00029
|
|
NM_000360.4(TH):c.406G>A (p.Val136Met)
|
rs142046543
|
0.00029
|
|
NM_000360.4(TH):c.91-891G>A
|
rs371277838
|
0.00029
|
|
NM_000687.4(AHCY):c.855-8C>T
|
rs370059571
|
0.00029
|
|
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=)
|
rs142967869
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=)
|
rs745981005
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
|
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=)
|
rs147718091
|
0.00029
|
|
NM_001258392.3(CLPB):c.619A>G (p.Lys207Glu)
|
rs146588273
|
0.00029
|
|
NM_001258392.3(CLPB):c.646+6T>C
|
rs374982363
|
0.00029
|
|
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser)
|
rs143043614
|
0.00029
|
|
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg)
|
rs146655995
|
0.00029
|
|
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His)
|
rs201950393
|
0.00029
|
|
NM_001698.3(AUH):c.936T>C (p.Tyr312=)
|
rs139628387
|
0.00029
|
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
|
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu)
|
rs41302429
|
0.00029
|
|
NM_003042.4(SLC6A1):c.1275T>G (p.Ala425=)
|
rs33999096
|
0.00029
|
|
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala)
|
rs377767450
|
0.00029
|
|
NM_004937.3(CTNS):c.661G>A (p.Val221Met)
|
rs138270433
|
0.00029
|
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
|
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
|
rs373690520
|
0.00029
|
|
NM_005518.4(HMGCS2):c.241G>A (p.Ala81Thr)
|
rs151187711
|
0.00029
|
|
NM_005629.4(SLC6A8):c.1767+15C>T
|
rs370331295
|
0.00029
|
|
NM_005957.5(MTHFR):c.1281T>C (p.Ser427=)
|
rs149533586
|
0.00029
|
|
NM_005957.5(MTHFR):c.1719C>T (p.Thr573=)
|
rs149585376
|
0.00029
|
|
NM_012213.3(MLYCD):c.799-19C>T
|
rs371452638
|
0.00029
|
|
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=)
|
rs35434090
|
0.00029
|
|
NM_015509.4(NECAP1):c.69G>A (p.Pro23=)
|
rs149738880
|
0.00029
|
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
|
NM_016335.6(PRODH):c.578G>A (p.Gly193Asp)
|
rs199907923
|
0.00029
|
|
NM_177550.5(SLC13A5):c.1095C>G (p.Thr365=)
|
rs139660928
|
0.00029
|
|
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)
|
rs201609001
|
0.00029
|
|
NM_201253.3(CRB1):c.71-14T>C
|
rs374653244
|
0.00029
|
|
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys)
|
rs374358376
|
0.00028
|
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
|
NM_000156.6(GAMT):c.279C>T (p.Asp93=)
|
rs144630886
|
0.00028
|
|
NM_000170.3(GLDC):c.124G>A (p.Gly42Arg)
|
rs190430477
|
0.00028
|
|
NM_000170.3(GLDC):c.2874C>T (p.Ser958=)
|
rs146339375
|
0.00028
|
|
NM_000182.5(HADHA):c.1690-13G>A
|
rs368557552
|
0.00028
|
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
|
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro)
|
rs563417983
|
0.00028
|
|
NM_000341.4(SLC3A1):c.592del (p.Ala198fs)
|
rs778000327
|
0.00028
|
|
NM_000360.4(TH):c.67G>A (p.Ala23Thr)
|
rs201081519
|
0.00028
|
|
NM_000531.6(OTC):c.941A>C (p.Glu314Ala)
|
rs137899554
|
0.00028
|
|
NM_000709.4(BCKDHA):c.117C>A (p.Pro39=)
|
rs80014754
|
0.00028
|
|
NM_001010867.4(IBA57):c.680-14T>G
|
rs375942905
|
0.00028
|
|
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val)
|
rs145068530
|
0.00028
|
|
NM_003748.4(ALDH4A1):c.483C>T (p.Asp161=)
|
rs182240222
|
0.00028
|
|
NM_004453.4(ETFDH):c.441T>C (p.Phe147=)
|
rs138149265
|
0.00028
|
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
|
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)
|
rs781955031
|
0.00028
|
|
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=)
|
rs201838389
|
0.00028
|
|
NM_005629.4(SLC6A8):c.1767+16G>A
|
rs781867197
|
0.00028
|
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
|
NM_014251.3(SLC25A13):c.1088G>T (p.Gly363Val)
|
rs35996658
|
0.00028
|
|
NM_014362.4(HIBCH):c.957A>G (p.Ser319=)
|
rs3213841
|
0.00028
|
|
NM_016335.6(PRODH):c.1401C>T (p.Tyr467=)
|
rs200018716
|
0.00028
|
|
NM_054012.4(ASS1):c.1015G>A (p.Ala339Thr)
|
rs145100866
|
0.00028
|
|
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)
|
rs557160401
|
0.00027
|
|
NM_000137.4(FAH):c.409G>A (p.Val137Ile)
|
rs139268254
|
0.00027
|
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
|
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)
|
rs142181803
|
0.00027
|
|
NM_000187.4(HGD):c.221A>T (p.Glu74Val)
|
rs141965690
|
0.00027
|
|
NM_000240.4(MAOA):c.1441G>A (p.Val481Ile)
|
rs183147374
|
0.00027
|
|
NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys)
|
rs549909989
|
0.00027
|
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
|
NM_000532.5(PCCB):c.1091-16A>C
|
rs534160449
|
0.00027
|
|
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)
|
rs765179856
|
0.00027
|
|
NM_001258392.3(CLPB):c.693C>T (p.Arg231=)
|
rs149932193
|
0.00027
|
|
NM_001271.4(CHD2):c.2728-3C>T
|
rs2272460
|
0.00027
|
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
|
NM_001876.4(CPT1A):c.142-16G>A
|
rs201717907
|
0.00027
|
|
NM_001985.3(ETFB):c.709G>A (p.Val237Ile)
|
rs149129214
|
0.00027
|
|
NM_003042.4(SLC6A1):c.1527G>A (p.Ala509=)
|
rs34969656
|
0.00027
|
|
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
|
NM_012213.3(MLYCD):c.1383G>A (p.Thr461=)
|
rs375344095
|
0.00027
|
|
NM_015509.4(NECAP1):c.251C>T (p.Thr84Met)
|
rs137964265
|
0.00027
|
|
NM_032861.4(SERAC1):c.1828+10C>G
|
rs374374755
|
0.00027
|
|
NM_058179.4(PSAT1):c.106G>C (p.Gly36Arg)
|
rs367577346
|
0.00027
|
|
NM_152419.3(HGSNAT):c.1251-4C>T
|
rs374882647
|
0.00027
|
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
|
NM_000018.4(ACADVL):c.1533-4T>A
|
rs369986567
|
0.00026
|
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
|
NM_000137.4(FAH):c.564C>T (p.Pro188=)
|
rs149988384
|
0.00026
|
|
NM_000156.6(GAMT):c.570+4C>T
|
rs199967562
|
0.00026
|
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
|
NM_000170.3(GLDC):c.2126A>G (p.Asn709Ser)
|
rs150943866
|
0.00026
|
|
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val)
|
rs201901663
|
0.00026
|
|
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val)
|
rs149476106
|
0.00026
|
|
NM_000276.4(OCRL):c.1506T>C (p.Leu502=)
|
rs145936187
|
0.00026
|
|
NM_000281.4(PCBD1):c.57C>T (p.Asn19=)
|
rs114265283
|
0.00026
|
|
NM_000282.4(PCCA):c.606A>G (p.Ala202=)
|
rs140082586
|
0.00026
|
|
NM_000282.4(PCCA):c.660C>T (p.Ala220=)
|
rs145826296
|
0.00026
|
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
|
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)
|
rs144065614
|
0.00026
|
|
NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)
|
rs149507807
|
0.00026
|
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
|
NM_000532.5(PCCB):c.82C>G (p.Leu28Val)
|
rs141137691
|
0.00026
|
|
NM_000687.4(AHCY):c.1001G>A (p.Arg334His)
|
rs201871637
|
0.00026
|
|
NM_001024845.3(SLC6A9):c.930T>C (p.Ala310=)
|
rs141699039
|
0.00026
|
|
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)
|
rs147439442
|
0.00026
|
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
|
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)
|
rs372812865
|
0.00026
|
|
NM_001258392.3(CLPB):c.465A>G (p.Ser155=)
|
rs138171096
|
0.00026
|
|
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp)
|
rs148534573
|
0.00026
|
|
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=)
|
rs138979360
|
0.00026
|
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
|
NM_001482.3(GATM):c.484+19C>T
|
rs374556262
|
0.00026
|
|
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys)
|
rs188094280
|
0.00026
|
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
|
NM_001876.4(CPT1A):c.693+7C>T
|
rs370181471
|
0.00026
|
|
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu)
|
rs139519507
|
0.00026
|
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
|
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=)
|
rs146222625
|
0.00026
|
|
NM_004408.4(DNM1):c.414C>T (p.Pro138=)
|
rs141748215
|
0.00026
|
|
NM_004974.4(KCNA2):c.1047A>G (p.Ala349=)
|
rs371979518
|
0.00026
|
|
NM_004974.4(KCNA2):c.372G>A (p.Glu124=)
|
rs200499541
|
0.00026
|
|
NM_005050.4(ABCD4):c.669-11_669-8del
|
rs373949463
|
0.00026
|
|
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg)
|
rs137852638
|
0.00026
|
|
NM_006623.4(PHGDH):c.1209+19C>T
|
rs367917607
|
0.00026
|
|
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp)
|
rs587731325
|
0.00026
|
|
NM_006623.4(PHGDH):c.356+13C>G
|
rs184901459
|
0.00026
|
|
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)
|
rs367930028
|
0.00026
|
|
NM_015662.3(IFT172):c.258T>C (p.Thr86=)
|
rs369061009
|
0.00026
|
|
NM_015662.3(IFT172):c.2949G>A (p.Lys983=)
|
rs141970363
|
0.00026
|
|
NM_015662.3(IFT172):c.3951+14G>T
|
rs376690357
|
0.00026
|
|
NM_015662.3(IFT172):c.987G>A (p.Thr329=)
|
rs376714689
|
0.00026
|
|
NM_020686.6(ABAT):c.955-19C>T
|
rs200209214
|
0.00026
|
|
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln)
|
rs370042988
|
0.00026
|
|
NM_177550.5(SLC13A5):c.1366G>A (p.Val456Ile)
|
rs146047560
|
0.00026
|
|
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)
|
rs147719822
|
0.00026
|
|
NM_000071.3(CBS):c.33G>A (p.Gly11=)
|
rs567323664
|
0.00025
|
|
NM_000071.3(CBS):c.829-11G>T
|
rs371619788
|
0.00025
|
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
|
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys)
|
rs142774813
|
0.00025
|
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
|
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)
|
rs142469446
|
0.00025
|
|
NM_000709.4(BCKDHA):c.375+4C>T
|
rs377496852
|
0.00025
|
|
NM_001010867.4(IBA57):c.279C>G (p.Arg93=)
|
rs750061256
|
0.00025
|
|
NM_001127222.2(CACNA1A):c.62C>T (p.Ala21Val)
|
rs15999
|
0.00025
|
|
NM_001243279.3(ACSF3):c.978-6G>A
|
rs377217672
|
0.00025
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
|
NM_001875.5(CPS1):c.947+19T>C
|
rs201276852
|
0.00025
|
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
|
NM_001958.5(EEF1A2):c.807C>T (p.Thr269=)
|
rs147062680
|
0.00025
|
|
NM_002225.5(IVD):c.234+16C>T
|
rs750473075
|
0.00025
|
|
NM_002225.5(IVD):c.234+9G>A
|
rs369931477
|
0.00025
|
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
|
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
|
rs143873407
|
0.00025
|
|
NM_004975.4(KCNB1):c.2324C>A (p.Pro775His)
|
rs530927636
|
0.00025
|
|
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala)
|
rs200278015
|
0.00025
|
|
NM_014251.3(SLC25A13):c.1681G>A (p.Gly561Arg)
|
rs142801864
|
0.00025
|
|
NM_014384.3(ACAD8):c.380+17G>T
|
rs201079276
|
0.00025
|
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
|
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)
|
rs189236939
|
0.00025
|
|
NM_015662.3(IFT172):c.3711+13A>T
|
rs371208266
|
0.00025
|
|
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=)
|
rs551376007
|
0.00025
|
|
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp)
|
rs150938554
|
0.00025
|
|
NM_018706.7(DHTKD1):c.1407C>A (p.Gly469=)
|
rs80324702
|
0.00025
|
|
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=)
|
rs199768968
|
0.00025
|
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
|
NM_177550.5(SLC13A5):c.232-7G>A
|
rs376066820
|
0.00025
|
|
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)
|
rs62636282
|
0.00025
|
|
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)
|
rs150412614
|
0.00025
|
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
|
NM_000018.4(ACADVL):c.1751+18G>A
|
rs528002997
|
0.00024
|
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
|
NM_000026.4(ADSL):c.649C>G (p.His217Asp)
|
rs199761158
|
0.00024
|
|
NM_000137.4(FAH):c.831G>A (p.Pro277=)
|
rs372980573
|
0.00024
|
|
NM_000156.6(GAMT):c.7G>A (p.Ala3Thr)
|
rs574164748
|
0.00024
|
|
NM_000159.4(GCDH):c.417G>A (p.Ser139=)
|
rs201583578
|
0.00024
|
|
NM_000170.3(GLDC):c.2316-13A>C
|
rs200931138
|
0.00024
|
|
NM_000276.4(OCRL):c.2680T>A (p.Phe894Ile)
|
rs147629352
|
0.00024
|
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
0.00024
|
|
NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)
|
rs149174359
|
0.00024
|
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
|
NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
|
NM_000531.6(OTC):c.663+17C>T
|
rs777660144
|
0.00024
|
|
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=)
|
rs137960127
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
|
NM_001243279.3(ACSF3):c.1502-4G>A
|
rs111414659
|
0.00024
|
|
NM_001352514.2(HLCS):c.1326C>T (p.Pro442=)
|
rs143393390
|
0.00024
|
|
NM_001352514.2(HLCS):c.674G>A (p.Gly225Asp)
|
rs144238478
|
0.00024
|
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
|
NM_001698.3(AUH):c.791G>A (p.Gly264Glu)
|
rs376821113
|
0.00024
|
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
|
NM_001876.4(CPT1A):c.171A>G (p.Ala57=)
|
rs758539295
|
0.00024
|
|
NM_001876.4(CPT1A):c.2173A>G (p.Ile725Val)
|
rs773269662
|
0.00024
|
|
NM_001918.5(DBT):c.37A>G (p.Asn13Asp)
|
rs140308307
|
0.00024
|
|
NM_002860.4(ALDH18A1):c.1153-13A>G
|
rs370680325
|
0.00024
|
|
NM_002860.4(ALDH18A1):c.76G>A (p.Val26Ile)
|
rs200242907
|
0.00024
|
|
NM_003060.4(SLC22A5):c.1010C>T (p.Thr337Ile)
|
rs142479732
|
0.00024
|
|
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)
|
rs201735169
|
0.00024
|
|
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=)
|
rs144252036
|
0.00024
|
|
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val)
|
rs145438966
|
0.00024
|
|
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg)
|
rs782560726
|
0.00024
|
|
NM_012213.3(MLYCD):c.558C>G (p.Leu186=)
|
rs200027817
|
0.00024
|
|
NM_012213.3(MLYCD):c.799-15G>A
|
rs367614213
|
0.00024
|
|
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=)
|
rs138094550
|
0.00024
|
|
NM_015662.3(IFT172):c.2193+10T>A
|
rs368782783
|
0.00024
|
|
NM_015662.3(IFT172):c.3711+3G>A
|
rs202055593
|
0.00024
|
|
NM_015662.3(IFT172):c.3952-19C>T
|
rs367962098
|
0.00024
|
|
NM_016335.6(PRODH):c.1398G>A (p.Thr466=)
|
rs142247512
|
0.00024
|
|
NM_016579.4(CD320):c.478G>A (p.Asp160Asn)
|
rs188158114
|
0.00024
|
|
NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)
|
rs146410859
|
0.00024
|
|
NM_054012.4(ASS1):c.165G>A (p.Gly55=)
|
rs146333243
|
0.00024
|
|
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser)
|
rs145496413
|
0.00024
|
|
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu)
|
rs141852437
|
0.00024
|
|
NM_000159.4(GCDH):c.738G>A (p.Ser246=)
|
rs188548539
|
0.00023
|
|
NM_000161.3(GCH1):c.69C>T (p.Pro23=)
|
rs767294964
|
0.00023
|
|
NM_000170.3(GLDC):c.48C>T (p.Val16=)
|
rs1262283551
|
0.00023
|
|
NM_000277.3(PAH):c.1161C>T (p.Tyr387=)
|
rs149595475
|
0.00023
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
|
NM_000360.4(TH):c.1349G>A (p.Arg450His)
|
rs138291013
|
0.00023
|
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
|
NM_000554.6(CRX):c.22G>C (p.Gly8Arg)
|
rs146240568
|
0.00023
|
|
NM_000554.6(CRX):c.309G>A (p.Gln103=)
|
rs138242846
|
0.00023
|
|
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys)
|
rs573941336
|
0.00023
|
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00023
|
|
NM_001258392.3(CLPB):c.2024A>G (p.Asn675Ser)
|
rs767062135
|
0.00023
|
|
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)
|
rs147466101
|
0.00023
|
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
|
NM_001918.5(DBT):c.1210-8A>T
|
rs535837017
|
0.00023
|
|
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)
|
rs148414435
|
0.00023
|
|
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys)
|
rs150775371
|
0.00023
|
|
NM_003982.4(SLC7A7):c.771-12A>G
|
rs554947145
|
0.00023
|
|
NM_004453.4(ETFDH):c.122G>A (p.Arg41Gln)
|
rs150105001
|
0.00023
|
|
NM_004937.3(CTNS):c.444G>A (p.Met148Ile)
|
rs199977728
|
0.00023
|
|
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
|
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=)
|
rs376385129
|
0.00023
|
|
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=)
|
rs141219551
|
0.00023
|
|
NM_015662.3(IFT172):c.3594T>C (p.Ser1198=)
|
rs775374622
|
0.00023
|
|
NM_016335.6(PRODH):c.606C>T (p.Tyr202=)
|
rs149344100
|
0.00023
|
|
NM_018706.7(DHTKD1):c.1220G>A (p.Arg407His)
|
rs201455968
|
0.00023
|
|
NM_054012.4(ASS1):c.240C>T (p.Ser80=)
|
rs147910468
|
0.00023
|
|
NM_000045.4(ARG1):c.474T>C (p.Asp158=)
|
rs144403253
|
0.00022
|
|
NM_000045.4(ARG1):c.856C>A (p.Pro286Thr)
|
rs370022660
|
0.00022
|
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
|
NM_000071.3(CBS):c.1273G>A (p.Val425Met)
|
rs138211175
|
0.00022
|
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
|
NM_000137.4(FAH):c.747A>G (p.Pro249=)
|
rs138757552
|
0.00022
|
|
NM_000187.4(HGD):c.8A>C (p.Glu3Ala)
|
rs200412910
|
0.00022
|
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
|
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)
|
rs374409316
|
0.00022
|
|
NM_000276.4(OCRL):c.912T>G (p.Gly304=)
|
rs190659938
|
0.00022
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
|
NM_000282.4(PCCA):c.965C>T (p.Ala322Val)
|
rs143527709
|
0.00022
|
|
NM_000353.3(TAT):c.592C>T (p.Leu198=)
|
rs148656877
|
0.00022
|
|
NM_000360.4(TH):c.1200+11C>T
|
rs372851419
|
0.00022
|
|
NM_000360.4(TH):c.12C>T (p.Pro4=)
|
rs147131010
|
0.00022
|
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
|
NM_000481.4(AMT):c.697-3C>T
|
rs373703503
|
0.00022
|
|
NM_000532.5(PCCB):c.544-5G>C
|
rs372351800
|
0.00022
|
|
NM_001017989.3(OPA3):c.486C>T (p.His162=)
|
rs201078416
|
0.00022
|
|
NM_001024845.3(SLC6A9):c.1086C>T (p.His362=)
|
rs778854185
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
|
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
|
rs140986055
|
0.00022
|
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
|
NM_001482.3(GATM):c.701A>G (p.Asp234Gly)
|
rs146057680
|
0.00022
|
|
NM_001698.3(AUH):c.464G>C (p.Gly155Ala)
|
rs377491933
|
0.00022
|
|
NM_001918.5(DBT):c.670G>T (p.Glu224Ter)
|
rs74103423
|
0.00022
|
|
NM_001918.5(DBT):c.964T>C (p.Phe322Leu)
|
rs148571335
|
0.00022
|
|
NM_001985.3(ETFB):c.541G>A (p.Val181Met)
|
rs148443220
|
0.00022
|
|
NM_002860.4(ALDH18A1):c.1253T>A (p.Leu418His)
|
rs201069261
|
0.00022
|
|
NM_003060.4(SLC22A5):c.798G>A (p.Pro266=)
|
rs143758508
|
0.00022
|
|
NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)
|
rs140704780
|
0.00022
|
|
NM_003982.4(SLC7A7):c.882T>C (p.Asp294=)
|
rs750881343
|
0.00022
|
|
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys)
|
rs935756107
|
0.00022
|
|
NM_004408.4(DNM1):c.2582C>A (p.Pro861His)
|
rs187315526
|
0.00022
|
|
NM_004975.4(KCNB1):c.51G>A (p.Pro17=)
|
rs772184358
|
0.00022
|
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
|
NM_005881.4(BCKDK):c.822G>A (p.Pro274=)
|
rs55884792
|
0.00022
|
|
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser)
|
rs147303046
|
0.00022
|
|
NM_016335.6(PRODH):c.1126C>T (p.Arg376Trp)
|
rs558320099
|
0.00022
|
|
NM_016335.6(PRODH):c.457G>A (p.Glu153Lys)
|
rs139870359
|
0.00022
|
|
NM_016335.6(PRODH):c.780A>G (p.Gln260=)
|
rs202042437
|
0.00022
|
|
NM_018368.4(LMBRD1):c.1510-17C>T
|
rs149064101
|
0.00022
|
|
NM_018706.7(DHTKD1):c.2048-4C>T
|
rs375385370
|
0.00022
|
|
NM_018706.7(DHTKD1):c.2427C>T (p.Ser809=)
|
rs144376657
|
0.00022
|
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
|
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)
|
rs376382820
|
0.00022
|
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
|
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)
|
rs139463596
|
0.00022
|
|
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
|
rs200573274
|
0.00022
|
|
NM_000018.4(ACADVL):c.121G>A (p.Ala41Thr)
|
rs367705640
|
0.00021
|
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
|
NM_000048.4(ASL):c.1169C>T (p.Ala390Val)
|
rs201047656
|
0.00021
|
|
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
|
rs142232609
|
0.00021
|
|
NM_000108.5(DLD):c.519T>G (p.Val173=)
|
rs148559280
|
0.00021
|
|
NM_000159.4(GCDH):c.127+9C>T
|
rs142568445
|
0.00021
|
|
NM_000170.3(GLDC):c.1932C>T (p.Cys644=)
|
rs111348076
|
0.00021
|
|
NM_000170.3(GLDC):c.2097C>T (p.Tyr699=)
|
rs149694787
|
0.00021
|
|
NM_000182.5(HADHA):c.1621-19A>G
|
rs372878267
|
0.00021
|
|
NM_000182.5(HADHA):c.2175C>T (p.Gly725=)
|
rs375399631
|
0.00021
|
|
NM_000254.3(MTR):c.1215G>A (p.Gln405=)
|
rs376048659
|
0.00021
|
|
NM_000274.4(OAT):c.740T>C (p.Met247Thr)
|
rs140966644
|
0.00021
|
|
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
|
rs143096615
|
0.00021
|
|
NM_000532.5(PCCB):c.303+8T>A
|
rs199769617
|
0.00021
|
|
NM_000554.6(CRX):c.778G>A (p.Ala260Thr)
|
rs370592248
|
0.00021
|
|
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=)
|
rs147021347
|
0.00021
|
|
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg)
|
rs150177278
|
0.00021
|
|
NM_001024845.3(SLC6A9):c.1653C>T (p.Ile551=)
|
rs202054416
|
0.00021
|
|
NM_001080.3(ALDH5A1):c.50C>T (p.Ser17Leu)
|
rs753168976
|
0.00021
|
|
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)
|
rs201230929
|
0.00021
|
|
NM_001271.4(CHD2):c.1017G>A (p.Glu339=)
|
rs141957556
|
0.00021
|
|
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met)
|
rs770993927
|
0.00021
|
|
NM_001739.2(CA5A):c.556C>T (p.Leu186Phe)
|
rs375321548
|
0.00021
|
|
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
|
rs145215237
|
0.00021
|
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
|
NM_001875.5(CPS1):c.3481-4A>C
|
rs200229226
|
0.00021
|
|
NM_001875.5(CPS1):c.3927+16A>G
|
rs188145947
|
0.00021
|
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
|
NM_001985.3(ETFB):c.227G>A (p.Arg76His)
|
rs148567433
|
0.00021
|
|
NM_002150.3(HPD):c.93+20G>A
|
rs202081529
|
0.00021
|
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
|
NM_002860.4(ALDH18A1):c.37T>A (p.Phe13Ile)
|
rs376664715
|
0.00021
|
|
NM_003042.4(SLC6A1):c.1044C>T (p.Val348=)
|
rs144666962
|
0.00021
|
|
NM_003042.4(SLC6A1):c.480G>T (p.Pro160=)
|
rs116620331
|
0.00021
|
|
NM_003060.4(SLC22A5):c.1053-3C>T
|
rs149201271
|
0.00021
|
|
NM_004408.4(DNM1):c.235+8C>T
|
rs370555560
|
0.00021
|
|
NM_005271.5(GLUD1):c.150G>C (p.Arg50=)
|
rs746606279
|
0.00021
|
|
NM_005518.4(HMGCS2):c.347G>A (p.Arg116His)
|
rs147906427
|
0.00021
|
|
NM_005629.4(SLC6A8):c.645-14C>T
|
rs782227426
|
0.00021
|
|
NM_005629.4(SLC6A8):c.819C>T (p.Val273=)
|
rs143750068
|
0.00021
|
|
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=)
|
rs141335706
|
0.00021
|
|
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile)
|
rs373076763
|
0.00021
|
|
NM_006623.4(PHGDH):c.412-15C>T
|
rs368681081
|
0.00021
|
|
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)
|
rs137906877
|
0.00021
|
|
NM_016579.4(CD320):c.759C>T (p.Leu253=)
|
rs200607555
|
0.00021
|
|
NM_018706.7(DHTKD1):c.847A>G (p.Met283Val)
|
rs145337285
|
0.00021
|
|
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu)
|
rs201806708
|
0.00021
|
|
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val)
|
rs143156315
|
0.00021
|
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
|
NM_054012.4(ASS1):c.710A>G (p.Asn237Ser)
|
rs565520844
|
0.00021
|
|
NM_058179.4(PSAT1):c.122-17T>C
|
rs3739471
|
0.00021
|
|
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)
|
rs115400822
|
0.00021
|
|
NM_201253.3(CRB1):c.430T>G (p.Phe144Val)
|
rs62636262
|
0.00021
|
|
NC_000022.11:g.40345598C>G
|
rs941360483
|
0.00020
|
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
|
NM_000017.4(ACADS):c.795+6C>T
|
rs376682235
|
0.00020
|
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
|
NM_000071.3(CBS):c.856A>G (p.Ile286Val)
|
rs147040567
|
0.00020
|
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
|
NM_000182.5(HADHA):c.864A>G (p.Glu288=)
|
rs372425837
|
0.00020
|
|
NM_000240.4(MAOA):c.1437+14C>T
|
rs372158657
|
0.00020
|
|
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr)
|
rs148897041
|
0.00020
|
|
NM_000254.3(MTR):c.639T>C (p.Phe213=)
|
rs568734591
|
0.00020
|
|
NM_000274.4(OAT):c.900+17C>G
|
rs375060243
|
0.00020
|
|
NM_000276.4(OCRL):c.105G>A (p.Arg35=)
|
rs142321728
|
0.00020
|
|
NM_000276.4(OCRL):c.152A>G (p.His51Arg)
|
rs764804719
|
0.00020
|
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
|
NM_000282.4(PCCA):c.415-10C>T
|
rs376120578
|
0.00020
|
|
NM_000554.6(CRX):c.203C>T (p.Ala68Val)
|
rs145649717
|
0.00020
|
|
NM_000554.6(CRX):c.549G>A (p.Gly183=)
|
rs61748451
|
0.00020
|
|
NM_000709.4(BCKDHA):c.336T>G (p.Leu112=)
|
rs150700696
|
0.00020
|
|
NM_001024845.3(SLC6A9):c.1374G>A (p.Ala458=)
|
rs199966777
|
0.00020
|
|
NM_001024845.3(SLC6A9):c.859-10T>C
|
rs376444778
|
0.00020
|
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
|
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=)
|
rs539500659
|
0.00020
|
|
NM_001258392.3(CLPB):c.189C>G (p.Phe63Leu)
|
rs141970893
|
0.00020
|
|
NM_001278293.3(ARL6):c.192A>G (p.Ser64=)
|
rs140114162
|
0.00020
|
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
|
NM_001876.4(CPT1A):c.1702G>T (p.Ala568Ser)
|
rs1046804
|
0.00020
|
|
NM_001918.5(DBT):c.1210-9_1210-8insT
|
rs201755806
|
0.00020
|
|
NM_001958.5(EEF1A2):c.30C>T (p.Ile10=)
|
rs376374917
|
0.00020
|
|
NM_002150.3(HPD):c.199-12C>T
|
rs780308275
|
0.00020
|
|
NM_002225.5(IVD):c.597C>T (p.Gly199=)
|
rs754418427
|
0.00020
|
|
NM_002860.4(ALDH18A1):c.96C>A (p.Ile32=)
|
rs11541779
|
0.00020
|
|
NM_004408.4(DNM1):c.1386C>T (p.Thr462=)
|
rs372666180
|
0.00020
|
|
NM_004974.4(KCNA2):c.79G>A (p.Ala27Thr)
|
rs750618978
|
0.00020
|
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
|
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)
|
rs200345511
|
0.00020
|
|
NM_005518.4(HMGCS2):c.1124C>G (p.Ser375Cys)
|
rs151328418
|
0.00020
|
|
NM_005518.4(HMGCS2):c.953A>G (p.Asn318Ser)
|
rs766507770
|
0.00020
|
|
NM_005629.4(SLC6A8):c.1596+9T>G
|
rs781828647
|
0.00020
|
|
NM_015662.3(IFT172):c.2521+11C>T
|
rs373403495
|
0.00020
|
|
NM_015662.3(IFT172):c.792G>A (p.Arg264=)
|
rs138730915
|
0.00020
|
|
NM_016335.6(PRODH):c.1729C>T (p.Arg577Trp)
|
rs184218784
|
0.00020
|
|
NM_016579.4(CD320):c.378C>T (p.Asn126=)
|
rs144097701
|
0.00020
|
|
NM_054012.4(ASS1):c.765C>T (p.Asn255=)
|
rs375579096
|
0.00020
|
|
NM_000016.6(ACADM):c.187G>C (p.Val63Leu)
|
rs149308824
|
0.00019
|
|
NM_000017.4(ACADS):c.211-18G>A
|
rs201747310
|
0.00019
|
|
NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile)
|
rs142869776
|
0.00019
|
|
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)
|
rs150228971
|
0.00019
|
|
NM_000026.4(ADSL):c.1191+5G>C
|
rs773404017
|
0.00019
|
|
NM_000026.4(ADSL):c.357+7G>A
|
rs199993991
|
0.00019
|
|
NM_000045.4(ARG1):c.472G>A (p.Asp158Asn)
|
rs751647696
|
0.00019
|
|
NM_000048.4(ASL):c.655+8G>A
|
rs200203985
|
0.00019
|
|
NM_000071.3(CBS):c.339C>T (p.Asn113=)
|
rs140879135
|
0.00019
|
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
|
NM_000071.3(CBS):c.5C>T (p.Pro2Leu)
|
rs546530618
|
0.00019
|
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
|
NM_000156.6(GAMT):c.328-10C>T
|
rs371511930
|
0.00019
|
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
|
NM_000170.3(GLDC):c.1530G>A (p.Gly510=)
|
rs145665442
|
0.00019
|
|
NM_000170.3(GLDC):c.2244G>A (p.Ser748=)
|
rs372693840
|
0.00019
|
|
NM_000170.3(GLDC):c.2570-10T>C
|
rs373987254
|
0.00019
|
|
NM_000182.5(HADHA):c.2215G>C (p.Ala739Pro)
|
rs141164185
|
0.00019
|
|
NM_000240.4(MAOA):c.1438-3T>C
|
rs202232897
|
0.00019
|
|
NM_000254.3(MTR):c.1075+7C>T
|
rs202157685
|
0.00019
|
|
NM_000274.4(OAT):c.107G>C (p.Gly36Ala)
|
rs140786333
|
0.00019
|
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
|
NM_000282.4(PCCA):c.1131T>G (p.Ala377=)
|
rs754991015
|
0.00019
|
|
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)
|
rs200483989
|
0.00019
|
|
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp)
|
rs200001296
|
0.00019
|
|
NM_000360.4(TH):c.1423G>A (p.Val475Met)
|
rs147585774
|
0.00019
|
|
NM_000532.5(PCCB):c.510G>A (p.Val170=)
|
rs1212025973
|
0.00019
|
|
NM_000687.4(AHCY):c.471C>T (p.Thr157=)
|
rs192590509
|
0.00019
|
|
NM_000709.4(BCKDHA):c.843C>T (p.Gly281=)
|
rs371343548
|
0.00019
|
|
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu)
|
rs142734560
|
0.00019
|
|
NM_001080.3(ALDH5A1):c.684G>A (p.Lys228=)
|
rs200484487
|
0.00019
|
|
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)
|
rs138912422
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1781+7C>A
|
rs202005119
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.4866+13T>C
|
rs368876802
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.6339+10G>C
|
rs376238265
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)
|
rs192339782
|
0.00019
|
|
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)
|
rs201022212
|
0.00019
|
|
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu)
|
rs781425127
|
0.00019
|
|
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met)
|
rs145141190
|
0.00019
|
|
NM_001258392.3(CLPB):c.1425C>T (p.His475=)
|
rs756497518
|
0.00019
|
|
NM_001271.4(CHD2):c.4278+5T>C
|
rs202174434
|
0.00019
|
|
NM_001698.3(AUH):c.262+14G>A
|
rs200386272
|
0.00019
|
|
NM_001698.3(AUH):c.330+13A>T
|
rs374741033
|
0.00019
|
|
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
|
rs142006568
|
0.00019
|
|
NM_001876.4(CPT1A):c.669A>G (p.Leu223=)
|
rs373563983
|
0.00019
|
|
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)
|
rs74735908
|
0.00019
|
|
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=)
|
rs201605414
|
0.00019
|
|
NM_003748.4(ALDH4A1):c.1579+11C>T
|
rs367612554
|
0.00019
|
|
NM_003982.4(SLC7A7):c.1064G>A (p.Arg355Gln)
|
rs11568423
|
0.00019
|
|
NM_003982.4(SLC7A7):c.1400A>T (p.Lys467Met)
|
rs199522527
|
0.00019
|
|
NM_003982.4(SLC7A7):c.1405C>T (p.Pro469Ser)
|
rs201550655
|
0.00019
|
|
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser)
|
rs150040014
|
0.00019
|
|
NM_004453.4(ETFDH):c.1048C>T (p.Arg350Trp)
|
rs375172942
|
0.00019
|
|
NM_004937.3(CTNS):c.123C>T (p.Asn41=)
|
rs148084080
|
0.00019
|
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
|
NM_005334.3(HCFC1):c.4942+11G>A
|
rs782730900
|
0.00019
|
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
|
NM_005957.5(MTHFR):c.1949C>T (p.Ala650Val)
|
rs145544233
|
0.00019
|
|
NM_005957.5(MTHFR):c.513C>A (p.Gly171=)
|
rs150963282
|
0.00019
|
|
NM_005957.5(MTHFR):c.870C>T (p.Asn290=)
|
rs141769179
|
0.00019
|
|
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys)
|
rs140979375
|
0.00019
|
|
NM_006623.4(PHGDH):c.411+9C>T
|
rs187075075
|
0.00019
|
|
NM_006859.4(LIAS):c.297T>C (p.Asn99=)
|
rs144299903
|
0.00019
|
|
NM_012213.3(MLYCD):c.641+11C>T
|
rs200841672
|
0.00019
|
|
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile)
|
rs143877538
|
0.00019
|
|
NM_014252.4(SLC25A15):c.55+6G>C
|
rs200219313
|
0.00019
|
|
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr)
|
rs200620279
|
0.00019
|
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
0.00019
|
|
NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser)
|
rs145154841
|
0.00019
|
|
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)
|
rs752069515
|
0.00019
|
|
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys)
|
rs147668131
|
0.00019
|
|
NM_015662.3(IFT172):c.4815+9G>A
|
rs199667794
|
0.00019
|
|
NM_054012.4(ASS1):c.299G>A (p.Arg100His)
|
rs138279074
|
0.00019
|
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
|
NM_152419.3(HGSNAT):c.493+13T>A
|
rs201688937
|
0.00019
|
|
NM_153006.3(NAGS):c.210C>G (p.Ser70=)
|
rs570583859
|
0.00019
|
|
NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)
|
rs368345065
|
0.00019
|
|
NM_183050.4(BCKDHB):c.987C>T (p.His329=)
|
rs138670449
|
0.00019
|
|
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)
|
rs142857810
|
0.00019
|
|
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)
|
rs200469148
|
0.00019
|
|
NM_000048.4(ASL):c.1035G>A (p.Val345=)
|
rs182203503
|
0.00018
|
|
NM_000108.5(DLD):c.282C>T (p.Asn94=)
|
rs144617361
|
0.00018
|
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
|
NM_000159.4(GCDH):c.572T>C (p.Met191Thr)
|
rs149120354
|
0.00018
|
|
NM_000170.3(GLDC):c.1581-5C>T
|
rs184463452
|
0.00018
|
|
NM_000274.4(OAT):c.915G>T (p.Leu305=)
|
rs1249516048
|
0.00018
|
|
NM_000481.4(AMT):c.1136A>C (p.Glu379Ala)
|
rs201189946
|
0.00018
|
|
NM_000531.6(OTC):c.582C>T (p.Ile194=)
|
rs200564773
|
0.00018
|
|
NM_000687.4(AHCY):c.1000C>T (p.Arg334Cys)
|
rs150066229
|
0.00018
|
|
NM_001080.3(ALDH5A1):c.518G>A (p.Arg173His)
|
rs369366567
|
0.00018
|
|
NM_001127222.2(CACNA1A):c.784+10C>T
|
rs781363787
|
0.00018
|
|
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=)
|
rs147915828
|
0.00018
|
|
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=)
|
rs150686471
|
0.00018
|
|
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=)
|
rs77345581
|
0.00018
|
|
NM_001258392.3(CLPB):c.966C>T (p.Ser322=)
|
rs371562971
|
0.00018
|
|
NM_001271.4(CHD2):c.2728-16G>A
|
rs111544874
|
0.00018
|
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
|
NM_001739.2(CA5A):c.433G>A (p.Val145Met)
|
rs138476706
|
0.00018
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_002150.3(HPD):c.759+8C>T
|
rs574773747
|
0.00018
|
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
|
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=)
|
rs142264458
|
0.00018
|
|
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met)
|
rs114269482
|
0.00018
|
|
NM_004937.3(CTNS):c.697G>A (p.Val233Met)
|
rs201058200
|
0.00018
|
|
NM_004975.4(KCNB1):c.2298G>T (p.Leu766=)
|
rs773587323
|
0.00018
|
|
NM_005518.4(HMGCS2):c.274C>G (p.Arg92Gly)
|
rs771955824
|
0.00018
|
|
NM_005957.5(MTHFR):c.868A>G (p.Asn290Asp)
|
rs368735885
|
0.00018
|
|
NM_012213.3(MLYCD):c.135C>T (p.Arg45=)
|
rs767969074
|
0.00018
|
|
NM_016579.4(CD320):c.285C>T (p.Thr95=)
|
rs181066013
|
0.00018
|
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
|
NM_177550.5(SLC13A5):c.642C>T (p.Tyr214=)
|
rs148755614
|
0.00018
|
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
|
NM_000159.4(GCDH):c.952G>A (p.Asp318Asn)
|
rs761135089
|
0.00017
|
|
NM_000170.3(GLDC):c.2307C>T (p.Pro769=)
|
rs565834029
|
0.00017
|
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
|
NM_000182.5(HADHA):c.2146+18G>A
|
rs200961004
|
0.00017
|
|
NM_000282.4(PCCA):c.328G>C (p.Val110Leu)
|
rs150788587
|
0.00017
|
|
NM_000282.4(PCCA):c.382A>G (p.Met128Val)
|
rs144201462
|
0.00017
|
|
NM_000329.3(RPE65):c.1446T>C (p.Asp482=)
|
rs72926953
|
0.00017
|
|
NM_000360.4(TH):c.1047+16G>A
|
rs372706117
|
0.00017
|
|
NM_000360.4(TH):c.391T>G (p.Phe131Val)
|
rs200536568
|
0.00017
|
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
|
NM_000481.4(AMT):c.363C>T (p.Asn121=)
|
rs367604855
|
0.00017
|
|
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)
|
rs746094022
|
0.00017
|
|
NM_001010867.4(IBA57):c.204C>T (p.Pro68=)
|
rs376235022
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=)
|
rs372275167
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=)
|
rs368016666
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
|
NM_001271.4(CHD2):c.2877-15A>G
|
rs374737708
|
0.00017
|
|
NM_001271.4(CHD2):c.4009-4C>T
|
rs376566234
|
0.00017
|
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
|
NM_001609.4(ACADSB):c.795C>T (p.Phe265=)
|
rs150619709
|
0.00017
|
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
|
NM_001876.4(CPT1A):c.851G>A (p.Arg284His)
|
rs144866081
|
0.00017
|
|
NM_002150.3(HPD):c.291G>A (p.Ala97=)
|
rs139901326
|
0.00017
|
|
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=)
|
rs146185976
|
0.00017
|
|
NM_003982.4(SLC7A7):c.954A>T (p.Leu318Phe)
|
rs201534081
|
0.00017
|
|
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=)
|
rs150020458
|
0.00017
|
|
NM_004975.4(KCNB1):c.2520C>T (p.Asp840=)
|
rs372147544
|
0.00017
|
|
NM_004975.4(KCNB1):c.568-18A>G
|
rs190903326
|
0.00017
|
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
|
NM_005629.4(SLC6A8):c.1016+10G>A
|
rs371905179
|
0.00017
|
|
NM_012213.3(MLYCD):c.129G>A (p.Leu43=)
|
rs762166598
|
0.00017
|
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
|
NM_015662.3(IFT172):c.2976-3C>T
|
rs371847154
|
0.00017
|
|
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp)
|
rs139223261
|
0.00017
|
|
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln)
|
rs202111577
|
0.00017
|
|
NM_016335.6(PRODH):c.1065G>A (p.Gln355=)
|
rs546571456
|
0.00017
|
|
NM_016335.6(PRODH):c.1143C>T (p.Ala381=)
|
rs560442727
|
0.00017
|
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
|
NM_016579.4(CD320):c.374G>A (p.Arg125His)
|
rs375310833
|
0.00017
|
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
|
NM_020686.6(ABAT):c.393C>T (p.Leu131=)
|
rs139142171
|
0.00017
|
|
NM_020686.6(ABAT):c.540+15A>G
|
rs773662763
|
0.00017
|
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
|
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn)
|
rs554146681
|
0.00017
|
|
NM_152542.5(PPM1K):c.294C>T (p.Ala98=)
|
rs117297894
|
0.00017
|
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
|
NM_177550.5(SLC13A5):c.1372G>A (p.Val458Met)
|
rs372801738
|
0.00017
|
|
NM_177550.5(SLC13A5):c.741C>T (p.Leu247=)
|
rs138520827
|
0.00017
|
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
|
NM_201253.3(CRB1):c.3393T>C (p.Asn1131=)
|
rs150559394
|
0.00017
|
|
NM_000017.4(ACADS):c.465C>T (p.Ser155=)
|
rs141492002
|
0.00016
|
|
NM_000017.4(ACADS):c.656C>T (p.Thr219Met)
|
rs148588313
|
0.00016
|
|
NM_000026.4(ADSL):c.-23C>T
|
rs201625622
|
0.00016
|
|
NM_000026.4(ADSL):c.16G>C (p.Asp6His)
|
rs140064577
|
0.00016
|
|
NM_000048.4(ASL):c.1063-18G>A
|
rs375596037
|
0.00016
|
|
NM_000071.3(CBS):c.1644G>C (p.Arg548=)
|
rs143945898
|
0.00016
|
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
|
NM_000137.4(FAH):c.1181-17G>T
|
rs376466730
|
0.00016
|
|
NM_000137.4(FAH):c.150T>C (p.Phe50=)
|
rs186471906
|
0.00016
|
|
NM_000137.4(FAH):c.741C>T (p.Leu247=)
|
rs145851627
|
0.00016
|
|
NM_000159.4(GCDH):c.627C>T (p.Thr209=)
|
rs143172809
|
0.00016
|
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
|
NM_000170.3(GLDC):c.2024A>C (p.Asn675Thr)
|
rs749513146
|
0.00016
|
|
NM_000170.3(GLDC):c.700C>G (p.Gln234Glu)
|
rs150698281
|
0.00016
|
|
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr)
|
rs368388214
|
0.00016
|
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
|
NM_000191.3(HMGCL):c.145-8C>T
|
rs369286537
|
0.00016
|
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
|
NM_000254.3(MTR):c.13C>A (p.Leu5Ile)
|
rs139083778
|
0.00016
|
|
NM_000254.3(MTR):c.3252C>T (p.Asp1084=)
|
rs144429636
|
0.00016
|
|
NM_000254.3(MTR):c.3405+18C>T
|
rs374485228
|
0.00016
|
|
NM_000329.3(RPE65):c.168A>G (p.Pro56=)
|
rs150260489
|
0.00016
|
|
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His)
|
rs375237049
|
0.00016
|
|
NM_000360.4(TH):c.576+13C>T
|
rs369163325
|
0.00016
|
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
|
NM_000532.5(PCCB):c.1399-19T>C
|
rs368309360
|
0.00016
|
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
|
NM_000709.4(BCKDHA):c.1211A>G (p.Asn404Ser)
|
rs148090804
|
0.00016
|
|
NM_000709.4(BCKDHA):c.213C>T (p.Asn71=)
|
rs138025447
|
0.00016
|
|
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=)
|
rs143608852
|
0.00016
|
|
NM_001002755.4(NFU1):c.62+10G>A
|
rs773351968
|
0.00016
|
|
NM_001017989.3(OPA3):c.416A>T (p.Gln139Leu)
|
rs201888844
|
0.00016
|
|
NM_001024845.3(SLC6A9):c.1104C>T (p.Phe368=)
|
rs149979593
|
0.00016
|
|
NM_001024845.3(SLC6A9):c.729G>A (p.Val243=)
|
rs189624767
|
0.00016
|
|
NM_001080.3(ALDH5A1):c.1014+8C>T
|
rs368394825
|
0.00016
|
|
NM_001080.3(ALDH5A1):c.1080C>T (p.Phe360=)
|
rs571602201
|
0.00016
|
|
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln)
|
rs199500997
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=)
|
rs772557121
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.6339+11C>T
|
rs190260468
|
0.00016
|
|
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn)
|
rs142092069
|
0.00016
|
|
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp)
|
rs202182978
|
0.00016
|
|
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser)
|
rs200703917
|
0.00016
|
|
NM_001271.4(CHD2):c.1377+12G>A
|
rs200005446
|
0.00016
|
|
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu)
|
rs186163798
|
0.00016
|
|
NM_001271.4(CHD2):c.295-20G>A
|
rs191859431
|
0.00016
|
|
NM_001271.4(CHD2):c.4593-19T>C
|
rs377557426
|
0.00016
|
|
NM_001271.4(CHD2):c.551+5A>C
|
rs376498798
|
0.00016
|
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
|
NM_001482.3(GATM):c.282G>A (p.Glu94=)
|
rs141223762
|
0.00016
|
|
NM_001482.3(GATM):c.692C>G (p.Ser231Cys)
|
rs202225656
|
0.00016
|
|
NM_001609.4(ACADSB):c.1128+2dup
|
rs762666946
|
0.00016
|
|
NM_001739.2(CA5A):c.258C>T (p.Ser86=)
|
rs145171357
|
0.00016
|
|
NM_001875.5(CPS1):c.1550-17_1550-13del
|
rs754222806
|
0.00016
|
|
NM_001875.5(CPS1):c.6G>A (p.Thr2=)
|
rs374246990
|
0.00016
|
|
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=)
|
rs61731905
|
0.00016
|
|
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser)
|
rs555444012
|
0.00016
|
|
NM_001958.5(EEF1A2):c.789C>T (p.Pro263=)
|
rs148075587
|
0.00016
|
|
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr)
|
rs200186078
|
0.00016
|
|
NM_002454.3(MTRR):c.463A>C (p.Arg155=)
|
rs556611332
|
0.00016
|
|
NM_003042.4(SLC6A1):c.726T>C (p.Phe242=)
|
rs765861626
|
0.00016
|
|
NM_003060.4(SLC22A5):c.1043T>C (p.Ile348Thr)
|
rs150544263
|
0.00016
|
|
NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)
|
rs544332057
|
0.00016
|
|
NM_003060.4(SLC22A5):c.791C>T (p.Thr264Met)
|
rs201262157
|
0.00016
|
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
|
NM_003982.4(SLC7A7):c.916G>C (p.Gly306Arg)
|
rs144264145
|
0.00016
|
|
NM_004408.4(DNM1):c.1335+8G>A
|
rs374438127
|
0.00016
|
|
NM_004408.4(DNM1):c.2430G>A (p.Gly810=)
|
rs1007155416
|
0.00016
|
|
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
|
rs149139488
|
0.00016
|
|
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)
|
rs201456625
|
0.00016
|
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
|
NM_005327.7(HADH):c.255C>T (p.Asn85=)
|
rs746650397
|
0.00016
|
|
NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=)
|
rs111284724
|
0.00016
|
|
NM_005518.4(HMGCS2):c.813A>G (p.Thr271=)
|
rs765772883
|
0.00016
|
|
NM_005518.4(HMGCS2):c.851-14G>A
|
rs188523700
|
0.00016
|
|
NM_005629.4(SLC6A8):c.645-6C>T
|
rs377181706
|
0.00016
|
|
NM_005957.5(MTHFR):c.762C>T (p.Pro254=)
|
rs200789362
|
0.00016
|
|
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=)
|
rs374303746
|
0.00016
|
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
|
NM_006859.4(LIAS):c.393+4G>A
|
rs368453789
|
0.00016
|
|
NM_014251.3(SLC25A13):c.1903G>T (p.Asp635Tyr)
|
rs761035791
|
0.00016
|
|
NM_014251.3(SLC25A13):c.756G>A (p.Glu252=)
|
rs141152495
|
0.00016
|
|
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)
|
rs121908419
|
0.00016
|
|
NM_014384.3(ACAD8):c.784G>A (p.Glu262Lys)
|
rs368653287
|
0.00016
|
|
NM_014384.3(ACAD8):c.939+11C>T
|
rs372904463
|
0.00016
|
|
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=)
|
rs143142494
|
0.00016
|
|
NM_015662.3(IFT172):c.98T>C (p.Val33Ala)
|
rs200884031
|
0.00016
|
|
NM_016335.6(PRODH):c.1062A>G (p.Leu354=)
|
rs376319831
|
0.00016
|
|
NM_016579.4(CD320):c.35G>T (p.Trp12Leu)
|
rs763898394
|
0.00016
|
|
NM_016579.4(CD320):c.41C>T (p.Thr14Ile)
|
rs374551944
|
0.00016
|
|
NM_016579.4(CD320):c.772C>T (p.Arg258Cys)
|
rs146190802
|
0.00016
|
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
|
NM_018706.7(DHTKD1):c.1364G>A (p.Arg455Gln)
|
rs142068634
|
0.00016
|
|
NM_018706.7(DHTKD1):c.2169G>A (p.Ala723=)
|
rs770278866
|
0.00016
|
|
NM_018706.7(DHTKD1):c.2320-5C>T
|
rs369534362
|
0.00016
|
|
NM_018706.7(DHTKD1):c.945A>G (p.Pro315=)
|
rs144254844
|
0.00016
|
|
NM_020686.6(ABAT):c.1270-14T>C
|
rs200844116
|
0.00016
|
|
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)
|
rs142887940
|
0.00016
|
|
NM_025136.4(OPA3):c.33G>T (p.Leu11=)
|
rs148805518
|
0.00016
|
|
NM_032601.4(MCEE):c.180G>A (p.Lys60=)
|
rs778261717
|
0.00016
|
|
NM_054012.4(ASS1):c.174+4C>A
|
rs368133957
|
0.00016
|
|
NM_058179.4(PSAT1):c.393T>C (p.Tyr131=)
|
rs370268538
|
0.00016
|
|
NM_145261.4(DNAJC19):c.182G>A (p.Arg61Gln)
|
rs376891597
|
0.00016
|
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
|
NM_152419.3(HGSNAT):c.321C>T (p.His107=)
|
rs571883806
|
0.00016
|
|
NM_152542.5(PPM1K):c.1055A>G (p.Tyr352Cys)
|
rs149003637
|
0.00016
|
|
NM_177550.5(SLC13A5):c.1156+9C>T
|
rs201530285
|
0.00016
|
|
NM_177550.5(SLC13A5):c.1395C>T (p.Asn465=)
|
rs150722760
|
0.00016
|
|
NM_177550.5(SLC13A5):c.285C>T (p.Ile95=)
|
rs149068818
|
0.00016
|
|
NM_183050.4(BCKDHB):c.1143G>A (p.Lys381=)
|
rs143579400
|
0.00016
|
|
NM_205861.3(DHDDS):c.33T>C (p.Leu11=)
|
rs139193738
|
0.00016
|
|
NM_205861.3(DHDDS):c.564T>C (p.Leu188=)
|
rs371976956
|
0.00016
|
|
NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)
|
rs760794308
|
0.00015
|
|
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)
|
rs780425464
|
0.00015
|
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
|
NM_000048.4(ASL):c.1357C>T (p.Arg453Cys)
|
rs144591360
|
0.00015
|
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
|
NM_000159.4(GCDH):c.735C>T (p.Leu245=)
|
rs372678445
|
0.00015
|
|
NM_000191.3(HMGCL):c.876+18C>T
|
rs200098567
|
0.00015
|
|
NM_000274.4(OAT):c.772-19T>A
|
rs201585464
|
0.00015
|
|
NM_000709.4(BCKDHA):c.924C>T (p.Asn308=)
|
rs139390622
|
0.00015
|
|
NM_001002755.4(NFU1):c.545+11C>T
|
rs775731328
|
0.00015
|
|
NM_001002755.4(NFU1):c.545+9T>C
|
rs767405381
|
0.00015
|
|
NM_001024845.3(SLC6A9):c.1017C>T (p.Phe339=)
|
rs200941888
|
0.00015
|
|
NM_001024845.3(SLC6A9):c.535T>C (p.Ser179Pro)
|
rs201636712
|
0.00015
|
|
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile)
|
rs139633130
|
0.00015
|
|
NM_001080.3(ALDH5A1):c.735C>G (p.Ser245Arg)
|
rs141430899
|
0.00015
|
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
|
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=)
|
rs768148002
|
0.00015
|
|
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=)
|
rs187962814
|
0.00015
|
|
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=)
|
rs752720474
|
0.00015
|
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
|
NM_001698.3(AUH):c.678C>T (p.Arg226=)
|
rs143768042
|
0.00015
|
|
NM_001875.5(CPS1):c.594G>A (p.Gln198=)
|
rs150369462
|
0.00015
|
|
NM_001876.4(CPT1A):c.357C>T (p.Ile119=)
|
rs138011726
|
0.00015
|
|
NM_001985.3(ETFB):c.264C>T (p.His88=)
|
rs562266125
|
0.00015
|
|
NM_002860.4(ALDH18A1):c.148A>G (p.Thr50Ala)
|
rs374047257
|
0.00015
|
|
NM_004453.4(ETFDH):c.1479T>C (p.Phe493=)
|
rs1423401867
|
0.00015
|
|
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn)
|
rs780768015
|
0.00015
|
|
NM_004453.4(ETFDH):c.972+13C>T
|
rs199589412
|
0.00015
|
|
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)
|
rs1314998853
|
0.00015
|
|
NM_004975.4(KCNB1):c.1356T>C (p.Asp452=)
|
rs775898692
|
0.00015
|
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
|
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)
|
rs370379881
|
0.00015
|
|
NM_005518.4(HMGCS2):c.1153T>A (p.Ser385Thr)
|
rs4716
|
0.00015
|
|
NM_005881.4(BCKDK):c.552G>C (p.Lys184Asn)
|
rs774214869
|
0.00015
|
|
NM_005957.5(MTHFR):c.1720G>A (p.Val574Ile)
|
rs202153689
|
0.00015
|
|
NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly)
|
rs200078965
|
0.00015
|
|
NM_012213.3(MLYCD):c.393C>T (p.Tyr131=)
|
rs560831102
|
0.00015
|
|
NM_014251.3(SLC25A13):c.1841+11T>C
|
rs370546671
|
0.00015
|
|
NM_014251.3(SLC25A13):c.408A>G (p.Leu136=)
|
rs188486690
|
0.00015
|
|
NM_014252.4(SLC25A15):c.277C>T (p.Arg93Trp)
|
rs200014560
|
0.00015
|
|
NM_014252.4(SLC25A15):c.789G>A (p.Thr263=)
|
rs144478411
|
0.00015
|
|
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)
|
rs147394910
|
0.00015
|
|
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=)
|
rs143671920
|
0.00015
|
|
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys)
|
rs146290725
|
0.00015
|
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
|
NM_018706.7(DHTKD1):c.1185C>T (p.Ile395=)
|
rs140878433
|
0.00015
|
|
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)
|
rs142867987
|
0.00015
|
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
|
NM_022132.5(MCCC2):c.701G>A (p.Arg234His)
|
rs202100813
|
0.00015
|
|
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val)
|
rs141676987
|
0.00015
|
|
NM_054012.4(ASS1):c.330G>A (p.Gly110=)
|
rs780445340
|
0.00015
|
|
NM_177550.5(SLC13A5):c.1276-19C>A
|
rs200223186
|
0.00015
|
|
NM_177550.5(SLC13A5):c.504C>T (p.Ala168=)
|
rs141506210
|
0.00015
|
|
NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)
|
rs398124598
|
0.00015
|
|
NM_201253.3(CRB1):c.2538A>T (p.Gly846=)
|
rs139040133
|
0.00015
|
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
|
NC_000022.11:g.40345958C>T
|
rs558615182
|
0.00014
|
|
NM_000017.4(ACADS):c.825C>T (p.Ile275=)
|
rs200652158
|
0.00014
|
|
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)
|
rs778531268
|
0.00014
|
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
|
NM_000018.4(ACADVL):c.759G>A (p.Gly253=)
|
rs148073142
|
0.00014
|
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
|
NM_000045.4(ARG1):c.22A>G (p.Ile8Val)
|
rs776185609
|
0.00014
|
|
NM_000045.4(ARG1):c.271G>A (p.Gly91Arg)
|
rs374676787
|
0.00014
|
|
NM_000048.4(ASL):c.1098C>T (p.Pro366=)
|
rs138511394
|
0.00014
|
|
NM_000048.4(ASL):c.135C>T (p.Tyr45=)
|
rs200619443
|
0.00014
|
|
NM_000048.4(ASL):c.354C>T (p.Val118=)
|
rs116121482
|
0.00014
|
|
NM_000071.3(CBS):c.317-16C>G
|
rs746289953
|
0.00014
|
|
NM_000108.5(DLD):c.1395T>C (p.Asn465=)
|
rs76313180
|
0.00014
|
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
|
NM_000156.6(GAMT):c.22C>A (p.Pro8Thr)
|
rs776498025
|
0.00014
|
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
|
NM_000159.4(GCDH):c.1244-15A>G
|
rs201407990
|
0.00014
|
|
NM_000159.4(GCDH):c.51G>T (p.Leu17=)
|
rs772706462
|
0.00014
|
|
NM_000170.3(GLDC):c.110G>A (p.Ser37Asn)
|
rs763471932
|
0.00014
|
|
NM_000170.3(GLDC):c.1155+11C>T
|
rs369664085
|
0.00014
|
|
NM_000170.3(GLDC):c.1974C>A (p.Ala658=)
|
rs534062853
|
0.00014
|
|
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu)
|
rs145422395
|
0.00014
|
|
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)
|
rs140956566
|
0.00014
|
|
NM_000254.3(MTR):c.1855G>C (p.Val619Leu)
|
rs557853306
|
0.00014
|
|
NM_000254.3(MTR):c.2474-19_2474-15del
|
rs781239294
|
0.00014
|
|
NM_000274.4(OAT):c.517G>A (p.Ala173Thr)
|
rs372152657
|
0.00014
|
|
NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)
|
rs377180274
|
0.00014
|
|
NM_000276.4(OCRL):c.350-5T>C
|
rs200744251
|
0.00014
|
|
NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)
|
rs760751280
|
0.00014
|
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
|
NM_000277.3(PAH):c.442-18G>A
|
rs149538764
|
0.00014
|
|
NM_000281.4(PCBD1):c.292C>T (p.Gln98Ter)
|
rs121913015
|
0.00014
|
|
NM_000282.4(PCCA):c.231+16G>A
|
rs562491059
|
0.00014
|
|
NM_000282.4(PCCA):c.914+10C>G
|
rs774298513
|
0.00014
|
|
NM_000317.3(PTS):c.84-7T>G
|
rs76064679
|
0.00014
|
|
NM_000320.3(QDPR):c.425A>G (p.Asp142Gly)
|
rs138542030
|
0.00014
|
|
NM_000320.3(QDPR):c.436+17C>G
|
rs765346239
|
0.00014
|
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
|
NM_000329.3(RPE65):c.408C>T (p.Val136=)
|
rs373547092
|
0.00014
|
|
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)
|
rs1191496583
|
0.00014
|
|
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr)
|
rs201989712
|
0.00014
|
|
NM_000360.4(TH):c.372G>A (p.Gly124=)
|
rs773806238
|
0.00014
|
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
|
NM_000360.4(TH):c.842-14G>A
|
rs560689972
|
0.00014
|
|
NM_000481.4(AMT):c.858C>A (p.Gly286=)
|
rs367726589
|
0.00014
|
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
|
NM_000709.4(BCKDHA):c.1195C>T (p.Arg399Trp)
|
rs760281271
|
0.00014
|
|
NM_000709.4(BCKDHA):c.995+19G>A
|
rs373076000
|
0.00014
|
|
NM_001024845.3(SLC6A9):c.1435+10C>T
|
rs201803106
|
0.00014
|
|
NM_001024845.3(SLC6A9):c.1721C>T (p.Ala574Val)
|
rs146175246
|
0.00014
|
|
NM_001024845.3(SLC6A9):c.915C>T (p.Gly305=)
|
rs201467484
|
0.00014
|
|
NM_001080.3(ALDH5A1):c.1163C>T (p.Ala388Val)
|
rs536355368
|
0.00014
|
|
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)
|
rs149793005
|
0.00014
|
|
NM_001080.3(ALDH5A1):c.62G>A (p.Gly21Asp)
|
rs371923295
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=)
|
rs373192672
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=)
|
rs374954726
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6760G>C (p.Glu2254Gln)
|
rs779063280
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
|
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=)
|
rs34972688
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg)
|
rs200971130
|
0.00014
|
|
NM_001243279.3(ACSF3):c.1613+8T>G
|
rs1358602745
|
0.00014
|
|
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys)
|
rs756279730
|
0.00014
|
|
NM_001258392.3(CLPB):c.135G>T (p.Pro45=)
|
rs534420559
|
0.00014
|
|
NM_001271.4(CHD2):c.1503-7T>C
|
rs777008776
|
0.00014
|
|
NM_001271.4(CHD2):c.4485G>A (p.Val1495=)
|
rs143356457
|
0.00014
|
|
NM_001271.4(CHD2):c.891C>T (p.Asp297=)
|
rs567353575
|
0.00014
|
|
NM_001352514.2(HLCS):c.1474C>A (p.Gln492Lys)
|
rs138844739
|
0.00014
|
|
NM_001352514.2(HLCS):c.1500C>A (p.Leu500=)
|
rs200631719
|
0.00014
|
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
|
NM_001739.2(CA5A):c.615T>A (p.His205Gln)
|
rs139816901
|
0.00014
|
|
NM_001875.5(CPS1):c.126+18T>A
|
rs201351777
|
0.00014
|
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
|
NM_001875.5(CPS1):c.2352A>G (p.Thr784=)
|
rs182565798
|
0.00014
|
|
NM_001958.5(EEF1A2):c.526G>A (p.Ala176Thr)
|
rs200840944
|
0.00014
|
|
NM_002150.3(HPD):c.249C>T (p.Gly83=)
|
rs137989475
|
0.00014
|
|
NM_002150.3(HPD):c.331C>T (p.Arg111Trp)
|
rs117839625
|
0.00014
|
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.1376G>A (p.Arg459Gln)
|
rs771386671
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.959A>G (p.Gln320Arg)
|
rs143635402
|
0.00014
|
|
NM_002860.4(ALDH18A1):c.986A>G (p.Asn329Ser)
|
rs141291042
|
0.00014
|
|
NM_003042.4(SLC6A1):c.1092G>A (p.Ala364=)
|
rs199998696
|
0.00014
|
|
NM_003042.4(SLC6A1):c.238+17G>A
|
rs762139954
|
0.00014
|
|
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=)
|
rs150457229
|
0.00014
|
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
|
NM_003748.4(ALDH4A1):c.1138-20G>A
|
rs574681452
|
0.00014
|
|
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=)
|
rs146882697
|
0.00014
|
|
NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)
|
rs1003539348
|
0.00014
|
|
NM_004577.4(PSPH):c.422-3A>C
|
rs376149020
|
0.00014
|
|
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)
|
rs149689304
|
0.00014
|
|
NM_004975.4(KCNB1):c.1551G>A (p.Ser517=)
|
rs377030406
|
0.00014
|
|
NM_004975.4(KCNB1):c.2059G>A (p.Val687Ile)
|
rs372263564
|
0.00014
|
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
|
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
0.00014
|
|
NM_005334.3(HCFC1):c.6069-5C>T
|
rs782321258
|
0.00014
|
|
NM_005629.4(SLC6A8):c.1016+12C>T
|
rs182984520
|
0.00014
|
|
NM_005881.4(BCKDK):c.544-10C>T
|
rs370950849
|
0.00014
|
|
NM_005881.4(BCKDK):c.588G>A (p.Ser196=)
|
rs150773521
|
0.00014
|
|
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys)
|
rs200138092
|
0.00014
|
|
NM_005957.5(MTHFR):c.1401G>A (p.Leu467=)
|
rs146554888
|
0.00014
|
|
NM_005957.5(MTHFR):c.781-12T>C
|
rs376833963
|
0.00014
|
|
NM_005957.5(MTHFR):c.903G>A (p.Leu301=)
|
rs147979890
|
0.00014
|
|
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)
|
rs147516123
|
0.00014
|
|
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=)
|
rs376416252
|
0.00014
|
|
NM_014362.4(HIBCH):c.1011+11A>T
|
rs550386327
|
0.00014
|
|
NM_014384.3(ACAD8):c.384G>A (p.Met128Ile)
|
rs374317179
|
0.00014
|
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
|
NM_015509.4(NECAP1):c.714G>A (p.Thr238=)
|
rs759118416
|
0.00014
|
|
NM_015662.3(IFT172):c.1524+20C>T
|
rs201838139
|
0.00014
|
|
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val)
|
rs200961120
|
0.00014
|
|
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His)
|
rs149065251
|
0.00014
|
|
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)
|
rs368373262
|
0.00014
|
|
NM_016335.6(PRODH):c.319A>G (p.Lys107Glu)
|
rs140129512
|
0.00014
|
|
NM_016335.6(PRODH):c.873C>T (p.Ile291=)
|
rs146652616
|
0.00014
|
|
NM_018706.7(DHTKD1):c.1956T>C (p.Ile652=)
|
rs375353018
|
0.00014
|
|
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
|
rs750638270
|
0.00014
|
|
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
|
rs119103219
|
0.00014
|
|
NM_030813.6(CLPB):c.671G>A (p.Arg224Gln)
|
rs770932848
|
0.00014
|
|
NM_032861.4(SERAC1):c.1308+17C>A
|
rs201126863
|
0.00014
|
|
NM_032861.4(SERAC1):c.1483A>C (p.Ile495Leu)
|
rs370591885
|
0.00014
|
|
NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)
|
rs143065058
|
0.00014
|
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
|
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala)
|
rs145288815
|
0.00014
|
|
NM_054012.4(ASS1):c.351C>T (p.Gly117=)
|
rs2228429
|
0.00014
|
|
NM_054012.4(ASS1):c.858A>T (p.Ala286=)
|
rs201905628
|
0.00014
|
|
NM_058179.4(PSAT1):c.571-19A>T
|
rs202227339
|
0.00014
|
|
NM_145261.4(DNAJC19):c.3+16C>T
|
rs367841424
|
0.00014
|
|
NM_152419.3(HGSNAT):c.821-28T>C
|
rs201415703
|
0.00014
|
|
NM_172250.3(MMAA):c.729C>T (p.Thr243=)
|
rs138111772
|
0.00014
|
|
NM_177550.5(SLC13A5):c.144C>T (p.Tyr48=)
|
rs138537951
|
0.00014
|
|
NM_177550.5(SLC13A5):c.927G>A (p.Leu309=)
|
rs141287518
|
0.00014
|
|
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile)
|
rs144011428
|
0.00014
|
|
NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg)
|
rs145956521
|
0.00014
|
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
|
NM_205861.3(DHDDS):c.990T>C (p.Thr330=)
|
rs773902080
|
0.00014
|
|
NC_000022.11:g.40345513A>C
|
rs988634184
|
0.00013
|
|
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser)
|
rs763613689
|
0.00013
|
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
|
NM_000018.4(ACADVL):c.477+16C>T
|
rs202059117
|
0.00013
|
|
NM_000018.4(ACADVL):c.756T>C (p.Asn252=)
|
rs143233413
|
0.00013
|
|
NM_000026.4(ADSL):c.735A>T (p.Arg245=)
|
rs143977255
|
0.00013
|
|
NM_000048.4(ASL):c.1056G>A (p.Thr352=)
|
rs745476328
|
0.00013
|
|
NM_000048.4(ASL):c.1143+13C>A
|
rs202069416
|
0.00013
|
|
NM_000048.4(ASL):c.1383A>C (p.Ala461=)
|
rs139531479
|
0.00013
|
|
NM_000048.4(ASL):c.719-12C>A
|
rs578174223
|
0.00013
|
|
NM_000071.3(CBS):c.1039+20G>A
|
rs548871653
|
0.00013
|
|
NM_000071.3(CBS):c.1041T>A (p.Gly347=)
|
rs573954005
|
0.00013
|
|
NM_000071.3(CBS):c.1072G>A (p.Val358Met)
|
rs148589243
|
0.00013
|
|
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)
|
rs201372812
|
0.00013
|
|
NM_000071.3(CBS):c.1341C>T (p.Pro447=)
|
rs371493662
|
0.00013
|
|
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)
|
rs148865119
|
0.00013
|
|
NM_000071.3(CBS):c.1539C>T (p.His513=)
|
rs187828882
|
0.00013
|
|
NM_000071.3(CBS):c.474G>A (p.Ala158=)
|
rs189362155
|
0.00013
|
|
NM_000071.3(CBS):c.489T>C (p.Tyr163=)
|
rs61735858
|
0.00013
|
|
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)
|
rs139456571
|
0.00013
|
|
NM_000137.4(FAH):c.583C>G (p.Leu195Val)
|
rs1002962662
|
0.00013
|
|
NM_000137.4(FAH):c.841C>A (p.Pro281Thr)
|
rs199820704
|
0.00013
|
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
|
NM_000161.3(GCH1):c.453+6G>A
|
rs766668821
|
0.00013
|
|
NM_000170.3(GLDC):c.1851-9C>G
|
rs377751310
|
0.00013
|
|
NM_000170.3(GLDC):c.2334G>A (p.Pro778=)
|
rs191795314
|
0.00013
|
|
NM_000182.5(HADHA):c.1690-14C>T
|
rs142401180
|
0.00013
|
|
NM_000182.5(HADHA):c.68-13T>C
|
rs182123964
|
0.00013
|
|
NM_000187.4(HGD):c.1176C>T (p.Ala392=)
|
rs368805723
|
0.00013
|
|
NM_000187.4(HGD):c.231C>T (p.Asp77=)
|
rs147017317
|
0.00013
|
|
NM_000254.3(MTR):c.2043+10A>G
|
rs375005444
|
0.00013
|
|
NM_000254.3(MTR):c.2405+13C>T
|
rs761948163
|
0.00013
|
|
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro)
|
rs111465715
|
0.00013
|
|
NM_000254.3(MTR):c.35-19A>G
|
rs372886393
|
0.00013
|
|
NM_000274.4(OAT):c.1160-13T>A
|
rs372850085
|
0.00013
|
|
NM_000274.4(OAT):c.355G>A (p.Val119Ile)
|
rs150939128
|
0.00013
|
|
NM_000274.4(OAT):c.546G>T (p.Leu182Phe)
|
rs144763058
|
0.00013
|
|
NM_000274.4(OAT):c.736C>T (p.Leu246=)
|
rs146882296
|
0.00013
|
|
NM_000276.4(OCRL):c.1184C>T (p.Ala395Val)
|
rs145139567
|
0.00013
|
|
NM_000276.4(OCRL):c.1587C>G (p.Ala529=)
|
rs375634816
|
0.00013
|
|
NM_000276.4(OCRL):c.2177G>T (p.Gly726Val)
|
rs755071897
|
0.00013
|
|
NM_000277.3(PAH):c.65C>A (p.Thr22Lys)
|
rs199565868
|
0.00013
|
|
NM_000282.4(PCCA):c.24A>G (p.Thr8=)
|
rs117397004
|
0.00013
|
|
NM_000282.4(PCCA):c.862A>C (p.Arg288=)
|
rs121964957
|
0.00013
|
|
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
|
rs142626873
|
0.00013
|
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
|
NM_000353.3(TAT):c.804C>T (p.Thr268=)
|
rs535089911
|
0.00013
|
|
NM_000387.6(SLC25A20):c.535+6C>T
|
rs199770033
|
0.00013
|
|
NM_000531.6(OTC):c.390A>G (p.Val130=)
|
rs149795059
|
0.00013
|
|
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
|
rs199858968
|
0.00013
|
|
NM_000687.4(AHCY):c.918C>T (p.Ile306=)
|
rs146829385
|
0.00013
|
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
|
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=)
|
rs151227241
|
0.00013
|
|
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)
|
rs369156704
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.4388+8G>A
|
rs376248243
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+20C>T
|
rs369959565
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
|
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=)
|
rs200146632
|
0.00013
|
|
NM_001271.4(CHD2):c.826+4T>C
|
rs369930157
|
0.00013
|
|
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)
|
rs139902499
|
0.00013
|
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
|
NM_001370658.1(BTD):c.400-4C>T
|
rs372355662
|
0.00013
|
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
|
NM_001918.5(DBT):c.747C>A (p.Gly249=)
|
rs200612682
|
0.00013
|
|
NM_001958.5(EEF1A2):c.843G>A (p.Ala281=)
|
rs139282309
|
0.00013
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
|
NM_003748.4(ALDH4A1):c.1650A>G (p.Thr550=)
|
rs202214117
|
0.00013
|
|
NM_003748.4(ALDH4A1):c.698A>G (p.Lys233Arg)
|
rs376422570
|
0.00013
|
|
NM_003982.4(SLC7A7):c.249C>T (p.Ser83=)
|
rs146077876
|
0.00013
|
|
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=)
|
rs139270936
|
0.00013
|
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
|
NM_004974.4(KCNA2):c.618C>T (p.Ser206=)
|
rs566902174
|
0.00013
|
|
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser)
|
rs201664321
|
0.00013
|
|
NM_005050.4(ABCD4):c.867C>T (p.Ile289=)
|
rs138775118
|
0.00013
|
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
|
NM_005334.3(HCFC1):c.1119A>G (p.Val373=)
|
rs782547175
|
0.00013
|
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
|
NM_005334.3(HCFC1):c.6005-18C>G
|
rs781820710
|
0.00013
|
|
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=)
|
rs368950125
|
0.00013
|
|
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=)
|
rs122453118
|
0.00013
|
|
NM_005881.4(BCKDK):c.1131G>A (p.Ala377=)
|
rs151090898
|
0.00013
|
|
NM_006623.4(PHGDH):c.572T>A (p.Leu191Gln)
|
rs369944394
|
0.00013
|
|
NM_006623.4(PHGDH):c.743C>T (p.Ala248Val)
|
rs201782441
|
0.00013
|
|
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val)
|
rs563907654
|
0.00013
|
|
NM_014251.3(SLC25A13):c.1945G>C (p.Gly649Arg)
|
rs757317844
|
0.00013
|
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
|
NM_015662.3(IFT172):c.2877+16G>A
|
rs371011283
|
0.00013
|
|
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)
|
rs186020523
|
0.00013
|
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
|
NM_016579.4(CD320):c.773G>A (p.Arg258His)
|
rs143156732
|
0.00013
|
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
|
NM_022132.5(MCCC2):c.384-20A>G
|
rs770917710
|
0.00013
|
|
NM_032861.4(SERAC1):c.391T>C (p.Cys131Arg)
|
rs147085187
|
0.00013
|
|
NM_054012.4(ASS1):c.241G>A (p.Ala81Thr)
|
rs141640176
|
0.00013
|
|
NM_054012.4(ASS1):c.549G>A (p.Glu183=)
|
rs747401210
|
0.00013
|
|
NM_058179.4(PSAT1):c.1008-11G>T
|
rs200199574
|
0.00013
|
|
NM_152419.3(HGSNAT):c.1128+8A>G
|
rs371054148
|
0.00013
|
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
|
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys)
|
rs201703838
|
0.00013
|
|
NM_177550.5(SLC13A5):c.103-15G>A
|
rs374410291
|
0.00013
|
|
NM_177550.5(SLC13A5):c.1291G>A (p.Val431Met)
|
rs201036096
|
0.00013
|
|
NM_177550.5(SLC13A5):c.4G>A (p.Ala2Thr)
|
rs146396085
|
0.00013
|
|
NM_177550.5(SLC13A5):c.681G>A (p.Thr227=)
|
rs139698810
|
0.00013
|
|
NM_177550.5(SLC13A5):c.882C>T (p.Asn294=)
|
rs143504660
|
0.00013
|
|
NM_183050.4(BCKDHB):c.168C>T (p.Phe56=)
|
rs747705382
|
0.00013
|
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
|
NC_000022.11:g.40345530C>T
|
rs753742645
|
0.00012
|
|
NM_000017.4(ACADS):c.46+20G>C
|
rs561966080
|
0.00012
|
|
NM_000018.4(ACADVL):c.1873C>G (p.Pro625Ala)
|
rs377044444
|
0.00012
|
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
|
NM_000019.4(ACAT1):c.1164-14T>C
|
rs111849528
|
0.00012
|
|
NM_000026.4(ADSL):c.-37C>G
|
rs372357778
|
0.00012
|
|
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)
|
rs766444814
|
0.00012
|
|
NM_000071.3(CBS):c.828+16G>A
|
rs527276612
|
0.00012
|
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
|
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)
|
rs372591001
|
0.00012
|
|
NM_000137.4(FAH):c.1077C>T (p.Phe359=)
|
rs145570259
|
0.00012
|
|
NM_000137.4(FAH):c.715A>T (p.Ile239Phe)
|
rs144228661
|
0.00012
|
|
NM_000137.4(FAH):c.864C>T (p.Cys288=)
|
rs370273424
|
0.00012
|
|
NM_000159.4(GCDH):c.894G>A (p.Ala298=)
|
rs150834108
|
0.00012
|
|
NM_000170.3(GLDC):c.1752T>C (p.Pro584=)
|
rs150647379
|
0.00012
|
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
|
NM_000170.3(GLDC):c.635+16A>G
|
rs182471927
|
0.00012
|
|
NM_000170.3(GLDC):c.713+17G>A
|
rs201230226
|
0.00012
|
|
NM_000182.5(HADHA):c.1085+17G>A
|
rs183045060
|
0.00012
|
|
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg)
|
rs552191498
|
0.00012
|
|
NM_000187.4(HGD):c.1112A>G (p.His371Arg)
|
rs120074172
|
0.00012
|
|
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)
|
rs148032473
|
0.00012
|
|
NM_000282.4(PCCA):c.300+20G>T
|
rs371217257
|
0.00012
|
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
|
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)
|
rs150870922
|
0.00012
|
|
NM_000360.4(TH):c.108G>A (p.Gly36=)
|
rs372002058
|
0.00012
|
|
NM_000360.4(TH):c.1105-12G>C
|
rs367966462
|
0.00012
|
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
|
NM_000360.4(TH):c.91-896G>A
|
rs376736869
|
0.00012
|
|
NM_000481.4(AMT):c.961G>A (p.Val321Met)
|
rs149457059
|
0.00012
|
|
NM_000531.6(OTC):c.534G>A (p.Thr178=)
|
rs775895740
|
0.00012
|
|
NM_000532.5(PCCB):c.23C>T (p.Ala8Val)
|
rs764602019
|
0.00012
|
|
NM_000532.5(PCCB):c.250A>G (p.Met84Val)
|
rs201950515
|
0.00012
|
|
NM_000554.6(CRX):c.537G>A (p.Leu179=)
|
rs753262074
|
0.00012
|
|
NM_000554.6(CRX):c.765C>T (p.Gly255=)
|
rs145913500
|
0.00012
|
|
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys)
|
rs374514431
|
0.00012
|
|
NM_001010867.4(IBA57):c.801C>T (p.Ala267=)
|
rs138699407
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6526+11C>G
|
rs767916527
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)
|
rs373192655
|
0.00012
|
|
NM_001243279.3(ACSF3):c.1502-18C>G
|
rs759372180
|
0.00012
|
|
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
|
rs139520739
|
0.00012
|
|
NM_001243279.3(ACSF3):c.387T>C (p.His129=)
|
rs150050697
|
0.00012
|
|
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=)
|
rs756300619
|
0.00012
|
|
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu)
|
rs145470870
|
0.00012
|
|
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val)
|
rs141607995
|
0.00012
|
|
NM_001258392.3(CLPB):c.144G>A (p.Leu48=)
|
rs557250186
|
0.00012
|
|
NM_001352514.2(HLCS):c.1938G>A (p.Ala646=)
|
rs370347318
|
0.00012
|
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
|
NM_001482.3(GATM):c.288+20_288+21del
|
rs748043870
|
0.00012
|
|
NM_001482.3(GATM):c.801A>C (p.Ala267=)
|
rs371507418
|
0.00012
|
|
NM_001698.3(AUH):c.721C>T (p.Arg241Ter)
|
rs200212229
|
0.00012
|
|
NM_001958.5(EEF1A2):c.621+10G>A
|
rs750169560
|
0.00012
|
|
NM_001958.5(EEF1A2):c.672C>T (p.Ser224=)
|
rs200051020
|
0.00012
|
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
|
NM_003042.4(SLC6A1):c.1191+8_1191+9insA
|
rs761247510
|
0.00012
|
|
NM_003042.4(SLC6A1):c.616A>G (p.Lys206Glu)
|
rs375623402
|
0.00012
|
|
NM_003982.4(SLC7A7):c.1246-24_1246-20del
|
rs755372416
|
0.00012
|
|
NM_004937.3(CTNS):c.480C>T (p.Phe160=)
|
rs147565118
|
0.00012
|
|
NM_004975.4(KCNB1):c.1367G>A (p.Arg456Gln)
|
rs761082551
|
0.00012
|
|
NM_004975.4(KCNB1):c.2364G>A (p.Thr788=)
|
rs112132596
|
0.00012
|
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
|
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)
|
rs199611189
|
0.00012
|
|
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)
|
rs370113081
|
0.00012
|
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
|
NM_005518.4(HMGCS2):c.559+8C>T
|
rs377651850
|
0.00012
|
|
NM_005518.4(HMGCS2):c.894G>A (p.Met298Ile)
|
rs138086607
|
0.00012
|
|
NM_006623.4(PHGDH):c.390C>T (p.Asp130=)
|
rs148078511
|
0.00012
|
|
NM_006623.4(PHGDH):c.643+17A>C
|
rs772910115
|
0.00012
|
|
NM_006623.4(PHGDH):c.644-12G>A
|
rs370255821
|
0.00012
|
|
NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly)
|
rs570550620
|
0.00012
|
|
NM_014251.3(SLC25A13):c.849-4A>G
|
rs368491877
|
0.00012
|
|
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly)
|
rs142236568
|
0.00012
|
|
NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)
|
rs201049927
|
0.00012
|
|
NM_014384.3(ACAD8):c.178A>G (p.Met60Val)
|
rs374985215
|
0.00012
|
|
NM_014384.3(ACAD8):c.607G>A (p.Val203Ile)
|
rs759877257
|
0.00012
|
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
|
NM_015509.4(NECAP1):c.196+12G>A
|
rs371530521
|
0.00012
|
|
NM_015662.3(IFT172):c.184-10A>T
|
rs546122503
|
0.00012
|
|
NM_015662.3(IFT172):c.2343A>G (p.Lys781=)
|
rs374062028
|
0.00012
|
|
NM_015662.3(IFT172):c.2442+16T>A
|
rs189737111
|
0.00012
|
|
NM_015662.3(IFT172):c.2642+13G>A
|
rs201243826
|
0.00012
|
|
NM_015662.3(IFT172):c.39+13G>A
|
rs747789616
|
0.00012
|
|
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)
|
rs368343162
|
0.00012
|
|
NM_015662.3(IFT172):c.5069-3C>T
|
rs370108416
|
0.00012
|
|
NM_015662.3(IFT172):c.5161-12A>G
|
rs368863616
|
0.00012
|
|
NM_015662.3(IFT172):c.918A>G (p.Leu306=)
|
rs746380795
|
0.00012
|
|
NM_016335.6(PRODH):c.1105-10C>T
|
rs200237251
|
0.00012
|
|
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
|
rs149957640
|
0.00012
|
|
NM_020686.6(ABAT):c.1269+6A>G
|
rs372790444
|
0.00012
|
|
NM_020686.6(ABAT):c.735C>T (p.Ile245=)
|
rs367831947
|
0.00012
|
|
NM_022132.5(MCCC2):c.137A>G (p.Tyr46Cys)
|
rs144578800
|
0.00012
|
|
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
|
rs145846295
|
0.00012
|
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
|
NM_054012.4(ASS1):c.489C>T (p.Tyr163=)
|
rs377319610
|
0.00012
|
|
NM_152419.3(HGSNAT):c.1378-20T>G
|
rs376109017
|
0.00012
|
|
NM_152542.5(PPM1K):c.670A>G (p.Ile224Val)
|
rs146226844
|
0.00012
|
|
NM_153006.3(NAGS):c.1096+8C>T
|
rs371563014
|
0.00012
|
|
NM_153006.3(NAGS):c.939C>T (p.Pro313=)
|
rs749692636
|
0.00012
|
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
|
NM_177550.5(SLC13A5):c.369-12C>T
|
rs375349735
|
0.00012
|
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
|
NM_201253.3(CRB1):c.4071G>A (p.Leu1357=)
|
rs765722225
|
0.00012
|
|
NM_205861.3(DHDDS):c.387G>C (p.Leu129Phe)
|
rs372256981
|
0.00012
|
|
NC_000022.11:g.40345587A>G
|
rs9607708
|
0.00011
|
|
NC_000022.11:g.40346371G>C
|
rs777987980
|
0.00011
|
|
NC_000022.11:g.40346412G>C
|
rs973872264
|
0.00011
|
|
NM_000017.4(ACADS):c.255C>T (p.Pro85=)
|
rs113118479
|
0.00011
|
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
|
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)
|
rs143172658
|
0.00011
|
|
NM_000018.4(ACADVL):c.622+12C>A
|
rs374633807
|
0.00011
|
|
NM_000026.4(ADSL):c.482+9T>C
|
rs770663865
|
0.00011
|
|
NM_000048.4(ASL):c.1047C>G (p.Val349=)
|
rs187877947
|
0.00011
|
|
NM_000048.4(ASL):c.1062+14C>A
|
rs776422245
|
0.00011
|
|
NM_000048.4(ASL):c.1278C>T (p.Cys426=)
|
rs140770112
|
0.00011
|
|
NM_000048.4(ASL):c.1302G>A (p.Val434=)
|
rs141705502
|
0.00011
|
|
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)
|
rs762862715
|
0.00011
|
|
NM_000108.5(DLD):c.267+9G>A
|
rs188936529
|
0.00011
|
|
NM_000137.4(FAH):c.553+15C>T
|
rs368509674
|
0.00011
|
|
NM_000137.4(FAH):c.870C>T (p.Asp290=)
|
rs377480457
|
0.00011
|
|
NM_000137.4(FAH):c.961-15G>A
|
rs376633948
|
0.00011
|
|
NM_000137.4(FAH):c.996C>T (p.His332=)
|
rs182877963
|
0.00011
|
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00011
|
|
NM_000159.4(GCDH):c.102G>A (p.Gly34=)
|
rs770942722
|
0.00011
|
|
NM_000159.4(GCDH):c.552C>T (p.Ser184=)
|
rs144887422
|
0.00011
|
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
|
NM_000170.3(GLDC):c.1926+6T>C
|
rs200007891
|
0.00011
|
|
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val)
|
rs117460214
|
0.00011
|
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
|
NM_000170.3(GLDC):c.255+8C>T
|
rs202086134
|
0.00011
|
|
NM_000170.3(GLDC):c.642C>T (p.Asn214=)
|
rs775546889
|
0.00011
|
|
NM_000182.5(HADHA):c.1690-12C>T
|
rs369641464
|
0.00011
|
|
NM_000182.5(HADHA):c.872G>A (p.Arg291Gln)
|
rs143414408
|
0.00011
|
|
NM_000187.4(HGD):c.141G>A (p.Ser47=)
|
rs541268108
|
0.00011
|
|
NM_000187.4(HGD):c.752G>A (p.Gly251Asp)
|
rs781011621
|
0.00011
|
|
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)
|
rs200955062
|
0.00011
|
|
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
|
rs377359610
|
0.00011
|
|
NM_000240.4(MAOA):c.412-6C>G
|
rs369122751
|
0.00011
|
|
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp)
|
rs140183705
|
0.00011
|
|
NM_000254.3(MTR):c.2658G>A (p.Ala886=)
|
rs142537384
|
0.00011
|
|
NM_000254.3(MTR):c.3204+9G>A
|
rs769109539
|
0.00011
|
|
NM_000274.4(OAT):c.478G>A (p.Val160Met)
|
rs148433929
|
0.00011
|
|
NM_000276.4(OCRL):c.351T>G (p.Ala117=)
|
rs764237144
|
0.00011
|
|
NM_000276.4(OCRL):c.481G>A (p.Asp161Asn)
|
rs372298378
|
0.00011
|
|
NM_000276.4(OCRL):c.939+8G>A
|
rs369386155
|
0.00011
|
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
|
NM_000281.4(PCBD1):c.205G>A (p.Val69Met)
|
rs200188190
|
0.00011
|
|
NM_000317.3(PTS):c.372A>T (p.Val124=)
|
rs139969809
|
0.00011
|
|
NM_000329.3(RPE65):c.1194C>T (p.Asp398=)
|
rs139640666
|
0.00011
|
|
NM_000329.3(RPE65):c.237C>T (p.Tyr79=)
|
rs371095928
|
0.00011
|
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
|
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)
|
rs370262167
|
0.00011
|
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
|
NM_000360.4(TH):c.696-7C>T
|
rs780074743
|
0.00011
|
|
NM_000360.4(TH):c.91-828C>T
|
rs764689284
|
0.00011
|
|
NM_000481.4(AMT):c.822G>C (p.Gly274=)
|
rs763963724
|
0.00011
|
|
NM_000481.4(AMT):c.952C>T (p.Arg318Trp)
|
rs777583902
|
0.00011
|
|
NM_000531.6(OTC):c.140A>C (p.Asn47Thr)
|
rs67939655
|
0.00011
|
|
NM_000532.5(PCCB):c.544-20T>C
|
rs370010917
|
0.00011
|
|
NM_000709.4(BCKDHA):c.1041G>A (p.Ser347=)
|
rs144276456
|
0.00011
|
|
NM_000709.4(BCKDHA):c.448A>G (p.Asn150Asp)
|
rs140612545
|
0.00011
|
|
NM_001024845.3(SLC6A9):c.461A>G (p.His154Arg)
|
rs201812410
|
0.00011
|
|
NM_001080.3(ALDH5A1):c.305T>G (p.Val102Gly)
|
rs1299289161
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.3883-15T>C
|
rs767715097
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5400+18G>A
|
rs16040
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=)
|
rs200625174
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)
|
rs927310190
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)
|
rs745336852
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=)
|
rs554430594
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)
|
rs754935637
|
0.00011
|
|
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr)
|
rs189568082
|
0.00011
|
|
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys)
|
rs141518662
|
0.00011
|
|
NM_001243279.3(ACSF3):c.561C>T (p.Val187=)
|
rs113731967
|
0.00011
|
|
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala)
|
rs201953109
|
0.00011
|
|
NM_001258392.3(CLPB):c.1476C>T (p.Ala492=)
|
rs139236388
|
0.00011
|
|
NM_001258392.3(CLPB):c.690C>T (p.Asn230=)
|
rs200517382
|
0.00011
|
|
NM_001271.4(CHD2):c.1297A>G (p.Ile433Val)
|
rs368327967
|
0.00011
|
|
NM_001271.4(CHD2):c.4533C>T (p.Asp1511=)
|
rs141821906
|
0.00011
|
|
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=)
|
rs201939255
|
0.00011
|
|
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln)
|
rs201628571
|
0.00011
|
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
|
NM_001370658.1(BTD):c.1362A>G (p.Glu454=)
|
rs189789794
|
0.00011
|
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
|
NM_001370658.1(BTD):c.1438C>T (p.Leu480=)
|
rs150206202
|
0.00011
|
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
|
NM_001370658.1(BTD):c.603C>T (p.Phe201=)
|
rs142418812
|
0.00011
|
|
NM_001609.4(ACADSB):c.960A>T (p.Ile320=)
|
rs147531541
|
0.00011
|
|
NM_001698.3(AUH):c.926A>C (p.Glu309Ala)
|
rs749713024
|
0.00011
|
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
|
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=)
|
rs199676680
|
0.00011
|
|
NM_001876.4(CPT1A):c.147C>G (p.Gly49=)
|
rs138011017
|
0.00011
|
|
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=)
|
rs202208941
|
0.00011
|
|
NM_001876.4(CPT1A):c.717C>T (p.Tyr239=)
|
rs142954613
|
0.00011
|
|
NM_001918.5(DBT):c.318T>G (p.Ala106=)
|
rs146259768
|
0.00011
|
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
|
NM_001985.3(ETFB):c.40A>C (p.Ile14Leu)
|
rs148261223
|
0.00011
|
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
|
NM_002454.3(MTRR):c.198C>T (p.Pro66=)
|
rs776410065
|
0.00011
|
|
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)
|
rs996966324
|
0.00011
|
|
NM_002860.4(ALDH18A1):c.1152+8_1152+9del
|
rs373488364
|
0.00011
|
|
NM_002860.4(ALDH18A1):c.1946A>G (p.Lys649Arg)
|
rs145197911
|
0.00011
|
|
NM_003042.4(SLC6A1):c.1041T>C (p.His347=)
|
rs371611997
|
0.00011
|
|
NM_003042.4(SLC6A1):c.987C>T (p.Cys329=)
|
rs141488919
|
0.00011
|
|
NM_003060.4(SLC22A5):c.952-14T>C
|
rs373018486
|
0.00011
|
|
NM_003748.4(ALDH4A1):c.1272C>T (p.Ser424=)
|
rs370707645
|
0.00011
|
|
NM_003748.4(ALDH4A1):c.557T>C (p.Ile186Thr)
|
rs375023861
|
0.00011
|
|
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys)
|
rs11568437
|
0.00011
|
|
NM_003982.4(SLC7A7):c.549A>C (p.Val183=)
|
rs146945921
|
0.00011
|
|
NM_004453.4(ETFDH):c.1277A>G (p.Lys426Arg)
|
rs200611086
|
0.00011
|
|
NM_004577.4(PSPH):c.624C>T (p.Asn208=)
|
rs146008713
|
0.00011
|
|
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)
|
rs138823792
|
0.00011
|
|
NM_004975.4(KCNB1):c.630G>A (p.Thr210=)
|
rs150723418
|
0.00011
|
|
NM_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
0.00011
|
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
|
NM_005327.7(HADH):c.144A>C (p.Ala48=)
|
rs79881095
|
0.00011
|
|
NM_005327.7(HADH):c.827-10C>T
|
rs372610846
|
0.00011
|
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
|
NM_005518.4(HMGCS2):c.358C>A (p.Pro120Thr)
|
rs758033248
|
0.00011
|
|
NM_005518.4(HMGCS2):c.8G>A (p.Arg3His)
|
rs72695184
|
0.00011
|
|
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=)
|
rs782114947
|
0.00011
|
|
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=)
|
rs138634140
|
0.00011
|
|
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=)
|
rs782373793
|
0.00011
|
|
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu)
|
rs868950793
|
0.00011
|
|
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr)
|
rs200689545
|
0.00011
|
|
NM_005957.5(MTHFR):c.400C>T (p.Arg134Cys)
|
rs45550133
|
0.00011
|
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
|
NM_005957.5(MTHFR):c.726A>G (p.Ala242=)
|
rs45459991
|
0.00011
|
|
NM_006623.4(PHGDH):c.1346A>G (p.Asn449Ser)
|
rs141662984
|
0.00011
|
|
NM_006623.4(PHGDH):c.139-19A>G
|
rs773408065
|
0.00011
|
|
NM_006623.4(PHGDH):c.689G>A (p.Arg230His)
|
rs777155018
|
0.00011
|
|
NM_006859.4(LIAS):c.393+10G>A
|
rs372094616
|
0.00011
|
|
NM_006859.4(LIAS):c.726G>A (p.Pro242=)
|
rs371053949
|
0.00011
|
|
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=)
|
rs373675093
|
0.00011
|
|
NM_012213.3(MLYCD):c.741G>T (p.Gly247=)
|
rs376948469
|
0.00011
|
|
NM_014251.3(SLC25A13):c.1170G>T (p.Leu390=)
|
rs377724262
|
0.00011
|
|
NM_014251.3(SLC25A13):c.934-3C>T
|
rs767051127
|
0.00011
|
|
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
|
rs572717478
|
0.00011
|
|
NM_014252.4(SLC25A15):c.330A>G (p.Ala110=)
|
rs754666431
|
0.00011
|
|
NM_014252.4(SLC25A15):c.513T>C (p.His171=)
|
rs200321784
|
0.00011
|
|
NM_014362.4(HIBCH):c.438+19C>G
|
rs919531257
|
0.00011
|
|
NM_014362.4(HIBCH):c.79-7T>C
|
rs201950316
|
0.00011
|
|
NM_014362.4(HIBCH):c.885A>G (p.Gln295=)
|
rs778683855
|
0.00011
|
|
NM_014384.3(ACAD8):c.1128C>T (p.Tyr376=)
|
rs374692738
|
0.00011
|
|
NM_014384.3(ACAD8):c.887G>A (p.Arg296Gln)
|
rs775062752
|
0.00011
|
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
|
NM_015509.4(NECAP1):c.196+19C>T
|
rs770618397
|
0.00011
|
|
NM_015509.4(NECAP1):c.780-13T>C
|
rs200758236
|
0.00011
|
|
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln)
|
rs151097967
|
0.00011
|
|
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser)
|
rs199631887
|
0.00011
|
|
NM_015662.3(IFT172):c.2159G>A (p.Arg720His)
|
rs202089120
|
0.00011
|
|
NM_015662.3(IFT172):c.2878-13T>C
|
rs374938451
|
0.00011
|
|
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser)
|
rs369780709
|
0.00011
|
|
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys)
|
rs746340772
|
0.00011
|
|
NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)
|
rs373098915
|
0.00011
|
|
NM_016579.4(CD320):c.269-13C>A
|
rs200852300
|
0.00011
|
|
NM_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
0.00011
|
|
NM_018706.7(DHTKD1):c.2047+12C>T
|
rs368839395
|
0.00011
|
|
NM_018706.7(DHTKD1):c.2154+19G>A
|
rs375269543
|
0.00011
|
|
NM_018706.7(DHTKD1):c.2266A>T (p.Asn756Tyr)
|
rs199643928
|
0.00011
|
|
NM_018706.7(DHTKD1):c.2520C>T (p.Pro840=)
|
rs540552818
|
0.00011
|
|
NM_018706.7(DHTKD1):c.307G>T (p.Ala103Ser)
|
rs35442324
|
0.00011
|
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
|
NM_020166.5(MCCC1):c.1732-9T>A
|
rs370660849
|
0.00011
|
|
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
|
rs201758122
|
0.00011
|
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
|
NM_020166.5(MCCC1):c.89+13G>C
|
rs774187137
|
0.00011
|
|
NM_020686.6(ABAT):c.408G>A (p.Pro136=)
|
rs149959823
|
0.00011
|
|
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)
|
rs757052602
|
0.00011
|
|
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
|
rs371374378
|
0.00011
|
|
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
|
rs140220101
|
0.00011
|
|
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
|
rs371336335
|
0.00011
|
|
NM_032861.4(SERAC1):c.128+8G>A
|
rs766928057
|
0.00011
|
|
NM_032861.4(SERAC1):c.1404-11G>A
|
rs371357530
|
0.00011
|
|
NM_032861.4(SERAC1):c.1413T>C (p.Ile471=)
|
rs144641679
|
0.00011
|
|
NM_032861.4(SERAC1):c.552C>T (p.Ser184=)
|
rs140671987
|
0.00011
|
|
NM_032861.4(SERAC1):c.711A>G (p.Glu237=)
|
rs144125721
|
0.00011
|
|
NM_052845.4(MMAB):c.666G>A (p.Thr222=)
|
rs369296142
|
0.00011
|
|
NM_054012.4(ASS1):c.18C>T (p.Ser6=)
|
rs555717331
|
0.00011
|
|
NM_054012.4(ASS1):c.963G>A (p.Val321=)
|
rs141053589
|
0.00011
|
|
NM_058179.4(PSAT1):c.916C>T (p.Arg306Cys)
|
rs113824905
|
0.00011
|
|
NM_145261.4(DNAJC19):c.129+15A>C
|
rs201697391
|
0.00011
|
|
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
|
rs374463372
|
0.00011
|
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
|
NM_172250.3(MMAA):c.440-17A>T
|
rs373100355
|
0.00011
|
|
NM_177550.5(SLC13A5):c.60C>T (p.Thr20=)
|
rs141481217
|
0.00011
|
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
|
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)
|
rs111761880
|
0.00011
|
|
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
|
rs190037839
|
0.00011
|
|
NM_205861.3(DHDDS):c.565G>A (p.Asp189Asn)
|
rs748833924
|
0.00011
|
|
NM_000016.6(ACADM):c.210T>G (p.Thr70=)
|
rs778891510
|
0.00010
|
|
NM_000018.4(ACADVL):c.495G>A (p.Glu165=)
|
rs370169077
|
0.00010
|
|
NM_000018.4(ACADVL):c.62+9G>A
|
rs369512281
|
0.00010
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
|
NM_000026.4(ADSL):c.1102-16G>A
|
rs200428249
|
0.00010
|
|
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)
|
rs200814886
|
0.00010
|
|
NM_000045.4(ARG1):c.482G>C (p.Gly161Ala)
|
rs201484132
|
0.00010
|
|
NM_000071.3(CBS):c.1146-12C>T
|
rs199550738
|
0.00010
|
|
NM_000071.3(CBS):c.1223+5G>A
|
rs372609349
|
0.00010
|
|
NM_000071.3(CBS):c.151A>C (p.Arg51=)
|
rs754759237
|
0.00010
|
|
NM_000071.3(CBS):c.1524C>T (p.Phe508=)
|
rs748610628
|
0.00010
|
|
NM_000071.3(CBS):c.1575T>C (p.Ser525=)
|
rs150037641
|
0.00010
|
|
NM_000071.3(CBS):c.1632C>T (p.Ala544=)
|
rs566810122
|
0.00010
|
|
NM_000071.3(CBS):c.362G>A (p.Arg121His)
|
rs770095972
|
0.00010
|
|
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)
|
rs773734233
|
0.00010
|
|
NM_000071.3(CBS):c.770C>T (p.Thr257Met)
|
rs758236584
|
0.00010
|
|
NM_000071.3(CBS):c.894G>A (p.Gln298=)
|
rs370514077
|
0.00010
|
|
NM_000108.5(DLD):c.337+7A>G
|
rs371072449
|
0.00010
|
|
NM_000108.5(DLD):c.876-6A>T
|
rs199944006
|
0.00010
|
|
NM_000126.4(ETFA):c.882+5T>C
|
rs377259058
|
0.00010
|
|
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu)
|
rs141946827
|
0.00010
|
|
NM_000137.4(FAH):c.412G>A (p.Gly138Arg)
|
rs143243347
|
0.00010
|
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
|
NM_000137.4(FAH):c.648C>A (p.Ile216=)
|
rs147016995
|
0.00010
|
|
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)
|
rs200785120
|
0.00010
|
|
NM_000170.3(GLDC):c.2203-12C>T
|
rs767258496
|
0.00010
|
|
NM_000170.3(GLDC):c.2212T>A (p.Cys738Ser)
|
rs375850752
|
0.00010
|
|
NM_000170.3(GLDC):c.2230G>A (p.Gly744Arg)
|
rs370061961
|
0.00010
|
|
NM_000182.5(HADHA):c.810G>A (p.Ala270=)
|
rs376632479
|
0.00010
|
|
NM_000187.4(HGD):c.111C>T (p.Tyr37=)
|
rs772792095
|
0.00010
|
|
NM_000240.4(MAOA):c.1262+6A>G
|
rs765738971
|
0.00010
|
|
NM_000240.4(MAOA):c.805G>A (p.Val269Ile)
|
rs150176511
|
0.00010
|
|
NM_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
|
NM_000254.3(MTR):c.68A>G (p.Asn23Ser)
|
rs760845484
|
0.00010
|
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
|
NM_000274.4(OAT):c.1291A>G (p.Ile431Val)
|
rs138709143
|
0.00010
|
|
NM_000276.4(OCRL):c.1221G>A (p.Pro407=)
|
rs747651906
|
0.00010
|
|
NM_000277.3(PAH):c.280A>G (p.Ile94Val)
|
rs528078207
|
0.00010
|
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser)
|
rs149293297
|
0.00010
|
|
NM_000282.4(PCCA):c.1519G>A (p.Val507Met)
|
rs146061036
|
0.00010
|
|
NM_000282.4(PCCA):c.2016C>T (p.Ala672=)
|
rs773033856
|
0.00010
|
|
NM_000282.4(PCCA):c.2039C>T (p.Ala680Val)
|
rs376383373
|
0.00010
|
|
NM_000282.4(PCCA):c.468+11A>C
|
rs187554010
|
0.00010
|
|
NM_000317.3(PTS):c.317C>T (p.Thr106Met)
|
rs200712908
|
0.00010
|
|
NM_000320.3(QDPR):c.18T>C (p.Ala6=)
|
rs940829956
|
0.00010
|
|
NM_000320.3(QDPR):c.271G>T (p.Ala91Ser)
|
rs147257284
|
0.00010
|
|
NM_000320.3(QDPR):c.29C>T (p.Ala10Val)
|
rs371735382
|
0.00010
|
|
NM_000329.3(RPE65):c.859-11C>T
|
rs369772824
|
0.00010
|
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
|
NM_000360.4(TH):c.127G>A (p.Glu43Lys)
|
rs772029518
|
0.00010
|
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
|
NM_000360.4(TH):c.452T>C (p.Val151Ala)
|
rs147569564
|
0.00010
|
|
NM_000360.4(TH):c.576G>A (p.Pro192=)
|
rs201809787
|
0.00010
|
|
NM_000481.4(AMT):c.1062C>A (p.Pro354=)
|
rs377227163
|
0.00010
|
|
NM_000481.4(AMT):c.194A>G (p.His65Arg)
|
rs376248724
|
0.00010
|
|
NM_000481.4(AMT):c.701C>T (p.Ser234Leu)
|
rs150998074
|
0.00010
|
|
NM_000531.6(OTC):c.1006-14T>C
|
rs188215770
|
0.00010
|
|
NM_000531.6(OTC):c.127C>A (p.Leu43Ile)
|
rs72554309
|
0.00010
|
|
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser)
|
rs151078515
|
0.00010
|
|
NM_000532.5(PCCB):c.1299+13T>C
|
rs185352554
|
0.00010
|
|
NM_000532.5(PCCB):c.555G>A (p.Thr185=)
|
rs543691110
|
0.00010
|
|
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
|
rs775471043
|
0.00010
|
|
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=)
|
rs371687353
|
0.00010
|
|
NM_001024845.3(SLC6A9):c.31-6217G>A
|
rs200633191
|
0.00010
|
|
NM_001024845.3(SLC6A9):c.398A>T (p.Tyr133Phe)
|
rs192630770
|
0.00010
|
|
NM_001080.3(ALDH5A1):c.1479C>T (p.Asn493=)
|
rs200661931
|
0.00010
|
|
NM_001080.3(ALDH5A1):c.738G>A (p.Gln246=)
|
rs372881980
|
0.00010
|
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=)
|
rs540579196
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.4290G>A (p.Ala1430=)
|
rs555959123
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5134-4A>G
|
rs200165596
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)
|
rs368257155
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
|
NM_001243279.3(ACSF3):c.1127-5T>C
|
rs200245960
|
0.00010
|
|
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=)
|
rs749994320
|
0.00010
|
|
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn)
|
rs368696141
|
0.00010
|
|
NM_001258392.3(CLPB):c.1865C>T (p.Thr622Met)
|
rs544489365
|
0.00010
|
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
|
NM_001258392.3(CLPB):c.776-10C>G
|
rs141271919
|
0.00010
|
|
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser)
|
rs143431217
|
0.00010
|
|
NM_001352514.2(HLCS):c.1194C>T (p.Thr398=)
|
rs149877080
|
0.00010
|
|
NM_001352514.2(HLCS):c.2512G>A (p.Asp838Asn)
|
rs139697458
|
0.00010
|
|
NM_001352514.2(HLCS):c.462G>A (p.Met154Ile)
|
rs183589811
|
0.00010
|
|
NM_001352514.2(HLCS):c.703G>A (p.Asp235Asn)
|
rs373951547
|
0.00010
|
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
|
NM_001370658.1(BTD):c.645C>A (p.Pro215=)
|
rs140769832
|
0.00010
|
|
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=)
|
rs145295182
|
0.00010
|
|
NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)
|
rs143736049
|
0.00010
|
|
NM_001609.4(ACADSB):c.807+10G>A
|
rs367568388
|
0.00010
|
|
NM_001698.3(AUH):c.679G>A (p.Ala227Thr)
|
rs141700491
|
0.00010
|
|
NM_001739.2(CA5A):c.459+10C>T
|
rs368408382
|
0.00010
|
|
NM_001875.5(CPS1):c.1071C>T (p.Asn357=)
|
rs146683599
|
0.00010
|
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
|
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=)
|
rs199640034
|
0.00010
|
|
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln)
|
rs757593086
|
0.00010
|
|
NM_001876.4(CPT1A):c.1569G>A (p.Pro523=)
|
rs754717309
|
0.00010
|
|
NM_001876.4(CPT1A):c.192C>T (p.Ile64=)
|
rs142691028
|
0.00010
|
|
NM_001876.4(CPT1A):c.390C>T (p.Leu130=)
|
rs188016546
|
0.00010
|
|
NM_002150.3(HPD):c.941T>C (p.Ile314Thr)
|
rs376100037
|
0.00010
|
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
|
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)
|
rs201348649
|
0.00010
|
|
NM_002454.3(MTRR):c.904-19dup
|
rs1554003810
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.219C>T (p.Ile73=)
|
rs148228931
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.4T>C (p.Leu2=)
|
rs755446179
|
0.00010
|
|
NM_002860.4(ALDH18A1):c.589G>C (p.Glu197Gln)
|
rs201691969
|
0.00010
|
|
NM_003042.4(SLC6A1):c.837G>C (p.Leu279=)
|
rs141874821
|
0.00010
|
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
|
NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)
|
rs748025331
|
0.00010
|
|
NM_003748.4(ALDH4A1):c.740G>T (p.Arg247Leu)
|
rs558761793
|
0.00010
|
|
NM_003982.4(SLC7A7):c.1281C>T (p.Cys427=)
|
rs763739193
|
0.00010
|
|
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val)
|
rs121908677
|
0.00010
|
|
NM_003982.4(SLC7A7):c.625+10A>G
|
rs200420079
|
0.00010
|
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
|
NM_004453.4(ETFDH):c.1652C>T (p.Ser551Leu)
|
rs772351035
|
0.00010
|
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
|
NM_004975.4(KCNB1):c.1997C>T (p.Pro666Leu)
|
rs201212125
|
0.00010
|
|
NM_004975.4(KCNB1):c.2105C>T (p.Ala702Val)
|
rs144379782
|
0.00010
|
|
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
|
NM_005050.4(ABCD4):c.756G>A (p.Arg252=)
|
rs149632647
|
0.00010
|
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
|
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met)
|
rs181428774
|
0.00010
|
|
NM_005518.4(HMGCS2):c.586G>C (p.Asp196His)
|
rs149314406
|
0.00010
|
|
NM_005629.4(SLC6A8):c.1496-4G>A
|
rs782589547
|
0.00010
|
|
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr)
|
rs782703394
|
0.00010
|
|
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=)
|
rs369715906
|
0.00010
|
|
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=)
|
rs149677083
|
0.00010
|
|
NM_005629.4(SLC6A8):c.912+9G>A
|
rs782694291
|
0.00010
|
|
NM_005957.5(MTHFR):c.907G>A (p.Val303Met)
|
rs143466425
|
0.00010
|
|
NM_006623.4(PHGDH):c.1543C>T (p.Leu515=)
|
rs148721434
|
0.00010
|
|
NM_006623.4(PHGDH):c.643+9G>A
|
rs377674470
|
0.00010
|
|
NM_012213.3(MLYCD):c.1146C>T (p.Ser382=)
|
rs373273203
|
0.00010
|
|
NM_012213.3(MLYCD):c.641+3A>C
|
rs370078811
|
0.00010
|
|
NM_014251.3(SLC25A13):c.1814G>A (p.Arg605Gln)
|
rs548194276
|
0.00010
|
|
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln)
|
rs369201060
|
0.00010
|
|
NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)
|
rs148422923
|
0.00010
|
|
NM_014384.3(ACAD8):c.444G>T (p.Pro148=)
|
rs572820646
|
0.00010
|
|
NM_014384.3(ACAD8):c.567+12C>T
|
rs375812492
|
0.00010
|
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
|
NM_015662.3(IFT172):c.337-5C>T
|
rs141086523
|
0.00010
|
|
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=)
|
rs369463180
|
0.00010
|
|
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys)
|
rs529914770
|
0.00010
|
|
NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)
|
rs571686284
|
0.00010
|
|
NM_015662.3(IFT172):c.679C>T (p.His227Tyr)
|
rs142857050
|
0.00010
|
|
NM_016335.6(PRODH):c.273+16G>C
|
rs760963520
|
0.00010
|
|
NM_016579.4(CD320):c.405C>T (p.Gly135=)
|
rs372005633
|
0.00010
|
|
NM_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
0.00010
|
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
|
NM_018706.7(DHTKD1):c.2525C>T (p.Pro842Leu)
|
rs374419452
|
0.00010
|
|
NM_018706.7(DHTKD1):c.294A>C (p.Gly98=)
|
rs199959700
|
0.00010
|
|
NM_018706.7(DHTKD1):c.744A>G (p.Leu248=)
|
rs370385309
|
0.00010
|
|
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
|
rs201745589
|
0.00010
|
|
NM_020166.5(MCCC1):c.762-5T>C
|
rs369355125
|
0.00010
|
|
NM_020686.6(ABAT):c.45G>C (p.Gln15His)
|
rs138270964
|
0.00010
|
|
NM_020686.6(ABAT):c.489C>T (p.Cys163=)
|
rs200627621
|
0.00010
|
|
NM_020686.6(ABAT):c.741G>A (p.Pro247=)
|
rs201170840
|
0.00010
|
|
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
|
rs374147386
|
0.00010
|
|
NM_032601.4(MCEE):c.235C>G (p.Leu79Val)
|
rs369078225
|
0.00010
|
|
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)
|
rs114624250
|
0.00010
|
|
NM_054012.4(ASS1):c.774-17A>G
|
rs372931120
|
0.00010
|
|
NM_058179.4(PSAT1):c.162C>T (p.Asn54=)
|
rs543844967
|
0.00010
|
|
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter)
|
rs1008314756
|
0.00010
|
|
NM_058179.4(PSAT1):c.468G>A (p.Thr156=)
|
rs200962308
|
0.00010
|
|
NM_058179.4(PSAT1):c.868G>A (p.Val290Ile)
|
rs200049723
|
0.00010
|
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
|
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
|
rs1025643467
|
0.00010
|
|
NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser)
|
rs371035911
|
0.00010
|
|
NM_152542.5(PPM1K):c.974C>T (p.Ala325Val)
|
rs142490765
|
0.00010
|
|
NM_177550.5(SLC13A5):c.1077G>A (p.Val359=)
|
rs372363091
|
0.00010
|
|
NM_177550.5(SLC13A5):c.321G>A (p.Lys107=)
|
rs138023567
|
0.00010
|
|
NM_177550.5(SLC13A5):c.357C>T (p.Ala119=)
|
rs748950933
|
0.00010
|
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
|
NM_201253.3(CRB1):c.2652C>A (p.Gly884=)
|
rs555263577
|
0.00010
|
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
|
NC_000022.11:g.40346141T>A
|
rs1261528478
|
0.00009
|
|
NC_000022.11:g.40346143T>C
|
rs978591450
|
0.00009
|
|
NC_000022.11:g.40346381A>C
|
rs771316335
|
0.00009
|
|
NM_000016.6(ACADM):c.600-19C>T
|
rs747837034
|
0.00009
|
|
NM_000017.4(ACADS):c.1108A>G (p.Met370Val)
|
rs566325901
|
0.00009
|
|
NM_000017.4(ACADS):c.819C>T (p.Ile273=)
|
rs368859841
|
0.00009
|
|
NM_000017.4(ACADS):c.989G>A (p.Arg330His)
|
rs199633532
|
0.00009
|
|
NM_000018.4(ACADVL):c.1005C>A (p.His335Gln)
|
rs753624994
|
0.00009
|
|
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)
|
rs777380964
|
0.00009
|
|
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)
|
rs138834083
|
0.00009
|
|
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)
|
rs201350598
|
0.00009
|
|
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr)
|
rs375806217
|
0.00009
|
|
NM_000018.4(ACADVL):c.1803G>A (p.Met601Ile)
|
rs201462718
|
0.00009
|
|
NM_000018.4(ACADVL):c.276C>T (p.Ser92=)
|
rs530278910
|
0.00009
|
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
|
NM_000019.4(ACAT1):c.22C>T (p.Leu8=)
|
rs775668624
|
0.00009
|
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
|
NM_000048.4(ASL):c.1044C>T (p.Gly348=)
|
rs147116519
|
0.00009
|
|
NM_000048.4(ASL):c.1270G>A (p.Val424Met)
|
rs368264870
|
0.00009
|
|
NM_000048.4(ASL):c.524+12G>T
|
rs200700775
|
0.00009
|
|
NM_000071.3(CBS):c.404C>T (p.Thr135Met)
|
rs144832032
|
0.00009
|
|
NM_000071.3(CBS):c.532-17C>T
|
rs534994500
|
0.00009
|
|
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)
|
rs761552468
|
0.00009
|
|
NM_000137.4(FAH):c.1097C>T (p.Ser366Leu)
|
rs372685249
|
0.00009
|
|
NM_000137.4(FAH):c.1209C>T (p.Ile403=)
|
rs111345782
|
0.00009
|
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
|
NM_000156.6(GAMT):c.242C>T (p.Ala81Val)
|
rs751099274
|
0.00009
|
|
NM_000156.6(GAMT):c.258T>C (p.His86=)
|
rs367871393
|
0.00009
|
|
NM_000156.6(GAMT):c.270G>A (p.Glu90=)
|
rs138754049
|
0.00009
|
|
NM_000156.6(GAMT):c.36C>T (p.Pro12=)
|
rs760278546
|
0.00009
|
|
NM_000156.6(GAMT):c.587C>T (p.Ala196Val)
|
rs565109128
|
0.00009
|
|
NM_000156.6(GAMT):c.662G>A (p.Arg221His)
|
rs766553422
|
0.00009
|
|
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser)
|
rs539505767
|
0.00009
|
|
NM_000161.3(GCH1):c.145C>G (p.Pro49Ala)
|
rs573085618
|
0.00009
|
|
NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)
|
rs748944982
|
0.00009
|
|
NM_000161.3(GCH1):c.593G>A (p.Arg198Gln)
|
rs201238926
|
0.00009
|
|
NM_000161.3(GCH1):c.610G>A (p.Val204Ile)
|
rs200891969
|
0.00009
|
|
NM_000170.3(GLDC):c.2151C>T (p.Ile717=)
|
rs1055782169
|
0.00009
|
|
NM_000170.3(GLDC):c.2175C>T (p.Tyr725=)
|
rs147951756
|
0.00009
|
|
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)
|
rs148775220
|
0.00009
|
|
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val)
|
rs150833015
|
0.00009
|
|
NM_000170.3(GLDC):c.2457+17T>A
|
rs371788223
|
0.00009
|
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
|
NM_000170.3(GLDC):c.3010C>G (p.Pro1004Ala)
|
rs773642256
|
0.00009
|
|
NM_000170.3(GLDC):c.471-9C>T
|
rs557572975
|
0.00009
|
|
NM_000182.5(HADHA):c.1284C>T (p.Asn428=)
|
rs199535840
|
0.00009
|
|
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val)
|
rs369588406
|
0.00009
|
|
NM_000182.5(HADHA):c.1886-16T>C
|
rs376113444
|
0.00009
|
|
NM_000182.5(HADHA):c.2147-8C>G
|
rs368976628
|
0.00009
|
|
NM_000182.5(HADHA):c.918+19T>C
|
rs372010520
|
0.00009
|
|
NM_000187.4(HGD):c.1080G>A (p.Gly360=)
|
rs752713602
|
0.00009
|
|
NM_000187.4(HGD):c.1206A>G (p.Ser402=)
|
rs140500816
|
0.00009
|
|
NM_000187.4(HGD):c.993T>C (p.Pro331=)
|
rs747288180
|
0.00009
|
|
NM_000191.3(HMGCL):c.375C>T (p.Val125=)
|
rs139102957
|
0.00009
|
|
NM_000191.3(HMGCL):c.498-10C>A
|
rs373505626
|
0.00009
|
|
NM_000254.3(MTR):c.2013C>T (p.Val671=)
|
rs147141232
|
0.00009
|
|
NM_000254.3(MTR):c.2686C>T (p.Leu896=)
|
rs147762307
|
0.00009
|
|
NM_000254.3(MTR):c.3007+20C>A
|
rs149877608
|
0.00009
|
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
|
NM_000254.3(MTR):c.355A>G (p.Met119Val)
|
rs538707626
|
0.00009
|
|
NM_000274.4(OAT):c.1015-5C>T
|
rs764963374
|
0.00009
|
|
NM_000276.4(OCRL):c.72C>G (p.Leu24=)
|
rs772216523
|
0.00009
|
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
|
NM_000277.3(PAH):c.681G>A (p.Leu227=)
|
rs182135145
|
0.00009
|
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
|
NM_000282.4(PCCA):c.2169G>A (p.Leu723=)
|
rs371113202
|
0.00009
|
|
NM_000282.4(PCCA):c.232-20A>G
|
rs376850891
|
0.00009
|
|
NM_000282.4(PCCA):c.36C>T (p.Val12=)
|
rs375516917
|
0.00009
|
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
|
NM_000320.3(QDPR):c.273C>T (p.Ala91=)
|
rs181584528
|
0.00009
|
|
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)
|
rs201379753
|
0.00009
|
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
|
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)
|
rs1429137932
|
0.00009
|
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=)
|
rs148703534
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu)
|
rs141944551
|
0.00009
|
|
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp)
|
rs150557210
|
0.00009
|
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
|
NM_000353.3(TAT):c.1178C>T (p.Thr393Met)
|
rs142634310
|
0.00009
|
|
NM_000360.4(TH):c.1358G>A (p.Arg453His)
|
rs759599321
|
0.00009
|
|
NM_000360.4(TH):c.51C>T (p.Ala17=)
|
rs199645400
|
0.00009
|
|
NM_000360.4(TH):c.662G>A (p.Arg221His)
|
rs150559011
|
0.00009
|
|
NM_000360.4(TH):c.842-17C>T
|
rs991661688
|
0.00009
|
|
NM_000360.4(TH):c.90G>A (p.Met30Ile)
|
rs147416823
|
0.00009
|
|
NM_000481.4(AMT):c.463C>T (p.Leu155Phe)
|
rs201233398
|
0.00009
|
|
NM_000481.4(AMT):c.582C>T (p.Gly194=)
|
rs377552553
|
0.00009
|
|
NM_000481.4(AMT):c.589G>C (p.Asp197His)
|
rs200550585
|
0.00009
|
|
NM_000531.6(OTC):c.626C>G (p.Ala209Gly)
|
rs72558417
|
0.00009
|
|
NM_000531.6(OTC):c.675G>A (p.Pro225=)
|
rs376129619
|
0.00009
|
|
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=)
|
rs191375566
|
0.00009
|
|
NM_000532.5(PCCB):c.373-18T>C
|
rs775972133
|
0.00009
|
|
NM_000532.5(PCCB):c.885-4A>C
|
rs535943678
|
0.00009
|
|
NM_000554.6(CRX):c.564C>T (p.Ser188=)
|
rs148622001
|
0.00009
|
|
NM_000554.6(CRX):c.790G>A (p.Val264Met)
|
rs138146799
|
0.00009
|
|
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys)
|
rs145239391
|
0.00009
|
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
|
NM_000687.4(AHCY):c.698G>A (p.Arg233Gln)
|
rs573146559
|
0.00009
|
|
NM_000709.4(BCKDHA):c.1233C>T (p.Asp411=)
|
rs200363605
|
0.00009
|
|
NM_000709.4(BCKDHA):c.1252G>A (p.Ala418Thr)
|
rs368567109
|
0.00009
|
|
NM_000709.4(BCKDHA):c.853G>C (p.Ala285Pro)
|
rs398123508
|
0.00009
|
|
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp)
|
rs373336888
|
0.00009
|
|
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly)
|
rs139171264
|
0.00009
|
|
NM_001002755.4(NFU1):c.303-2A>T
|
rs371546359
|
0.00009
|
|
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)
|
rs777602937
|
0.00009
|
|
NM_001024845.3(SLC6A9):c.1620C>G (p.Gly540=)
|
rs201079660
|
0.00009
|
|
NM_001024845.3(SLC6A9):c.31-700G>A
|
rs200011312
|
0.00009
|
|
NM_001024845.3(SLC6A9):c.918C>T (p.Leu306=)
|
rs138394765
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.133C>A (p.Arg45Ser)
|
rs1045445950
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.18G>T (p.Trp6Cys)
|
rs569456241
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)
|
rs373315916
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.727-13T>G
|
rs187404409
|
0.00009
|
|
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)
|
rs375628463
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=)
|
rs535077726
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys)
|
rs187393245
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)
|
rs373183625
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=)
|
rs759641758
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3883-18C>T
|
rs745383274
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3911A>C (p.Gln1304Pro)
|
rs755279579
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.4756-4C>T
|
rs199841998
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.5134-20G>A
|
rs756590078
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.539+17A>G
|
rs752280152
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6051-20G>A
|
rs371831228
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)
|
rs751926317
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
|
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)
|
rs145285434
|
0.00009
|
|
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val)
|
rs545886514
|
0.00009
|
|
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=)
|
rs150374081
|
0.00009
|
|
NM_001258392.3(CLPB):c.1710C>T (p.Leu570=)
|
rs140958543
|
0.00009
|
|
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
|
rs766600801
|
0.00009
|
|
NM_001271.4(CHD2):c.1116G>A (p.Glu372=)
|
rs147482358
|
0.00009
|
|
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg)
|
rs753058189
|
0.00009
|
|
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu)
|
rs755088564
|
0.00009
|
|
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
|
rs754174173
|
0.00009
|
|
NM_001271.4(CHD2):c.753A>G (p.Glu251=)
|
rs368486032
|
0.00009
|
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
|
NM_001352514.2(HLCS):c.2088C>T (p.Val696=)
|
rs150794567
|
0.00009
|
|
NM_001352514.2(HLCS):c.2283C>T (p.Asn761=)
|
rs138387445
|
0.00009
|
|
NM_001352514.2(HLCS):c.2415C>T (p.Ser805=)
|
rs370117126
|
0.00009
|
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
|
NM_001370658.1(BTD):c.1047G>A (p.Pro349=)
|
rs140890299
|
0.00009
|
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
|
NM_001609.4(ACADSB):c.726G>A (p.Pro242=)
|
rs148114788
|
0.00009
|
|
NM_001698.3(AUH):c.20C>T (p.Ala7Val)
|
rs863223911
|
0.00009
|
|
NM_001698.3(AUH):c.998C>T (p.Pro333Leu)
|
rs541546111
|
0.00009
|
|
NM_001739.2(CA5A):c.123G>T (p.Trp41Cys)
|
rs374378501
|
0.00009
|
|
NM_001739.2(CA5A):c.244C>A (p.Pro82Thr)
|
rs377135599
|
0.00009
|
|
NM_001739.2(CA5A):c.774+7C>T
|
rs373877038
|
0.00009
|
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
|
NM_001875.5(CPS1):c.942C>A (p.Ala314=)
|
rs774427324
|
0.00009
|
|
NM_001876.4(CPT1A):c.1910C>T (p.Ser637Phe)
|
rs150459546
|
0.00009
|
|
NM_001876.4(CPT1A):c.1959C>T (p.Ile653=)
|
rs556392764
|
0.00009
|
|
NM_001876.4(CPT1A):c.2028+7C>G
|
rs768465007
|
0.00009
|
|
NM_001918.5(DBT):c.556-7T>C
|
rs755448648
|
0.00009
|
|
NM_001958.5(EEF1A2):c.621C>T (p.Asn207=)
|
rs544401782
|
0.00009
|
|
NM_002150.3(HPD):c.1071+10G>A
|
rs191293267
|
0.00009
|
|
NM_002150.3(HPD):c.972G>A (p.Val324=)
|
rs200240490
|
0.00009
|
|
NM_002225.5(IVD):c.1139-9T>C
|
rs373295135
|
0.00009
|
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
|
NM_002454.3(MTRR):c.495C>T (p.Gly165=)
|
rs139333376
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val)
|
rs142712849
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)
|
rs762742204
|
0.00009
|
|
NM_002860.4(ALDH18A1):c.194G>T (p.Ser65Ile)
|
rs142746793
|
0.00009
|
|
NM_003042.4(SLC6A1):c.1008C>T (p.Phe336=)
|
rs144261418
|
0.00009
|
|
NM_003042.4(SLC6A1):c.953+18C>T
|
rs149997639
|
0.00009
|
|
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys)
|
rs60376624
|
0.00009
|
|
NM_003060.4(SLC22A5):c.498-8C>T
|
rs370645111
|
0.00009
|
|
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)
|
rs1321621475
|
0.00009
|
|
NM_003060.4(SLC22A5):c.777G>T (p.Leu259=)
|
rs370175430
|
0.00009
|
|
NM_003060.4(SLC22A5):c.93C>T (p.Pro31=)
|
rs375293546
|
0.00009
|
|
NM_003748.4(ALDH4A1):c.1677C>T (p.Tyr559=)
|
rs531113108
|
0.00009
|
|
NM_003748.4(ALDH4A1):c.984C>T (p.Asp328=)
|
rs146741343
|
0.00009
|
|
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp)
|
rs139619724
|
0.00009
|
|
NM_003982.4(SLC7A7):c.273G>A (p.Ala91=)
|
rs754387668
|
0.00009
|
|
NM_004408.4(DNM1):c.1200G>A (p.Thr400=)
|
rs373198034
|
0.00009
|
|
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile)
|
rs771062230
|
0.00009
|
|
NM_004408.4(DNM1):c.2364G>A (p.Val788=)
|
rs904300233
|
0.00009
|
|
NM_004408.4(DNM1):c.797G>A (p.Arg266His)
|
rs200136679
|
0.00009
|
|
NM_004453.4(ETFDH):c.1692A>T (p.Gly564=)
|
rs377544087
|
0.00009
|
|
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
|
rs141180629
|
0.00009
|
|
NM_004577.4(PSPH):c.354T>C (p.His118=)
|
rs373775129
|
0.00009
|
|
NM_004577.4(PSPH):c.673G>A (p.Glu225Lys)
|
rs536712417
|
0.00009
|
|
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)
|
rs548772179
|
0.00009
|
|
NM_004937.3(CTNS):c.624C>T (p.Phe208=)
|
rs771057130
|
0.00009
|
|
NM_004937.3(CTNS):c.684C>T (p.Arg228=)
|
rs762346133
|
0.00009
|
|
NM_004975.4(KCNB1):c.1071C>T (p.Asp357=)
|
rs199964916
|
0.00009
|
|
NM_004975.4(KCNB1):c.1305T>C (p.Ala435=)
|
rs201403239
|
0.00009
|
|
NM_004975.4(KCNB1):c.1654G>A (p.Ala552Thr)
|
rs146429493
|
0.00009
|
|
NM_004975.4(KCNB1):c.1861G>T (p.Ala621Ser)
|
rs201960228
|
0.00009
|
|
NM_004975.4(KCNB1):c.2115C>T (p.Val705=)
|
rs199910304
|
0.00009
|
|
NM_004975.4(KCNB1):c.2472C>T (p.Gly824=)
|
rs375177375
|
0.00009
|
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
|
NM_005271.5(GLUD1):c.102G>C (p.Arg34=)
|
rs896457764
|
0.00009
|
|
NM_005271.5(GLUD1):c.468G>A (p.Val156=)
|
rs780979729
|
0.00009
|
|
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
|
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
|
rs199554411
|
0.00009
|
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
|
NM_005518.4(HMGCS2):c.146C>T (p.Thr49Ile)
|
rs756404916
|
0.00009
|
|
NM_005518.4(HMGCS2):c.71C>T (p.Thr24Ile)
|
rs369221781
|
0.00009
|
|
NM_005629.4(SLC6A8):c.1141+6G>A
|
rs373124777
|
0.00009
|
|
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=)
|
rs376421364
|
0.00009
|
|
NM_005629.4(SLC6A8):c.1680G>A (p.Met560Ile)
|
rs781816805
|
0.00009
|
|
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=)
|
rs375818489
|
0.00009
|
|
NM_005629.4(SLC6A8):c.644+9G>C
|
rs200353790
|
0.00009
|
|
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=)
|
rs782005985
|
0.00009
|
|
NM_005629.4(SLC6A8):c.912+15G>A
|
rs1456582785
|
0.00009
|
|
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=)
|
rs201614853
|
0.00009
|
|
NM_005957.5(MTHFR):c.1333C>T (p.Arg445Trp)
|
rs138469955
|
0.00009
|
|
NM_005957.5(MTHFR):c.1734C>G (p.Val578=)
|
rs145052308
|
0.00009
|
|
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile)
|
rs200037593
|
0.00009
|
|
NM_006623.4(PHGDH):c.723C>T (p.Asp241=)
|
rs150682021
|
0.00009
|
|
NM_006859.4(LIAS):c.129A>G (p.Pro43=)
|
rs377315137
|
0.00009
|
|
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
|
rs368786581
|
0.00009
|
|
NM_006859.4(LIAS):c.60T>C (p.Tyr20=)
|
rs201996792
|
0.00009
|
|
NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg)
|
rs369616872
|
0.00009
|
|
NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly)
|
rs369427189
|
0.00009
|
|
NM_014251.3(SLC25A13):c.483G>A (p.Glu161=)
|
rs762752651
|
0.00009
|
|
NM_014251.3(SLC25A13):c.543C>T (p.Ile181=)
|
rs370372951
|
0.00009
|
|
NM_014251.3(SLC25A13):c.848+3A>C
|
rs369402461
|
0.00009
|
|
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu)
|
rs187685447
|
0.00009
|
|
NM_014252.4(SLC25A15):c.378C>T (p.Pro126=)
|
rs1331945995
|
0.00009
|
|
NM_014252.4(SLC25A15):c.55+17C>G
|
rs552201985
|
0.00009
|
|
NM_014252.4(SLC25A15):c.729T>G (p.Ser243=)
|
rs1007126000
|
0.00009
|
|
NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)
|
rs367938014
|
0.00009
|
|
NM_014384.3(ACAD8):c.110-9T>C
|
rs371550147
|
0.00009
|
|
NM_014384.3(ACAD8):c.173G>A (p.Arg58Gln)
|
rs749474432
|
0.00009
|
|
NM_014384.3(ACAD8):c.481A>G (p.Thr161Ala)
|
rs186756646
|
0.00009
|
|
NM_014384.3(ACAD8):c.567+8C>T
|
rs574233188
|
0.00009
|
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
|
NM_015509.4(NECAP1):c.252G>A (p.Thr84=)
|
rs149036367
|
0.00009
|
|
NM_015662.3(IFT172):c.1006-13G>C
|
rs753018358
|
0.00009
|
|
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp)
|
rs141043554
|
0.00009
|
|
NM_015662.3(IFT172):c.1608C>T (p.Asp536=)
|
rs749114212
|
0.00009
|
|
NM_015662.3(IFT172):c.2122G>A (p.Val708Met)
|
rs140506322
|
0.00009
|
|
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr)
|
rs144620711
|
0.00009
|
|
NM_015662.3(IFT172):c.247A>G (p.Ile83Val)
|
rs142227350
|
0.00009
|
|
NM_015662.3(IFT172):c.337-4G>A
|
rs374002706
|
0.00009
|
|
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr)
|
rs746868013
|
0.00009
|
|
NM_015662.3(IFT172):c.3673C>T (p.Arg1225Trp)
|
rs148305851
|
0.00009
|
|
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser)
|
rs763238244
|
0.00009
|
|
NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)
|
rs542662514
|
0.00009
|
|
NM_016335.6(PRODH):c.174G>T (p.Ala58=)
|
rs931875471
|
0.00009
|
|
NM_016335.6(PRODH):c.220C>T (p.Leu74=)
|
rs1332640987
|
0.00009
|
|
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
0.00009
|
|
NM_018706.7(DHTKD1):c.1695C>T (p.Asp565=)
|
rs141111299
|
0.00009
|
|
NM_018706.7(DHTKD1):c.1998C>T (p.Gly666=)
|
rs144891795
|
0.00009
|
|
NM_018706.7(DHTKD1):c.2526G>A (p.Pro842=)
|
rs143353830
|
0.00009
|
|
NM_018706.7(DHTKD1):c.2613G>A (p.Pro871=)
|
rs139445220
|
0.00009
|
|
NM_018706.7(DHTKD1):c.922C>T (p.Arg308Cys)
|
rs377213027
|
0.00009
|
|
NM_018706.7(DHTKD1):c.930C>T (p.Asp310=)
|
rs149203530
|
0.00009
|
|
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
|
rs368288499
|
0.00009
|
|
NM_020686.6(ABAT):c.1158G>A (p.Pro386=)
|
rs374865268
|
0.00009
|
|
NM_020686.6(ABAT):c.1345A>G (p.Ile449Val)
|
rs147782370
|
0.00009
|
|
NM_020686.6(ABAT):c.1392G>A (p.Leu464=)
|
rs140054038
|
0.00009
|
|
NM_020686.6(ABAT):c.26G>A (p.Arg9His)
|
rs531783337
|
0.00009
|
|
NM_020686.6(ABAT):c.748C>T (p.Arg250Trp)
|
rs201397255
|
0.00009
|
|
NM_020686.6(ABAT):c.858G>A (p.Thr286=)
|
rs375480247
|
0.00009
|
|
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
|
rs144631139
|
0.00009
|
|
NM_030813.6(CLPB):c.653G>C (p.Gly218Ala)
|
rs377766896
|
0.00009
|
|
NM_030813.6(CLPB):c.736+2T>C
|
rs201350869
|
0.00009
|
|
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln)
|
rs200334627
|
0.00009
|
|
NM_032861.4(SERAC1):c.487+19C>T
|
rs372997779
|
0.00009
|
|
NM_032861.4(SERAC1):c.583C>T (p.Pro195Ser)
|
rs546374310
|
0.00009
|
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
|
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys)
|
rs373514077
|
0.00009
|
|
NM_054012.4(ASS1):c.19G>A (p.Val7Met)
|
rs149938546
|
0.00009
|
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
|
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=)
|
rs116103106
|
0.00009
|
|
NM_058179.4(PSAT1):c.511G>C (p.Ala171Pro)
|
rs115263053
|
0.00009
|
|
NM_058179.4(PSAT1):c.571-6T>C
|
rs376067862
|
0.00009
|
|
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=)
|
rs756091468
|
0.00009
|
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
|
NM_152542.5(PPM1K):c.707+7C>T
|
rs369204921
|
0.00009
|
|
NM_152542.5(PPM1K):c.960C>T (p.Asn320=)
|
rs779464044
|
0.00009
|
|
NM_153006.3(NAGS):c.1188C>T (p.Asn396=)
|
rs374040892
|
0.00009
|
|
NM_153006.3(NAGS):c.1274A>G (p.Asn425Ser)
|
rs752635329
|
0.00009
|
|
NM_153006.3(NAGS):c.1452-11C>T
|
rs371793544
|
0.00009
|
|
NM_153006.3(NAGS):c.299C>G (p.Ser100Trp)
|
rs764150659
|
0.00009
|
|
NM_153006.3(NAGS):c.30G>C (p.Leu10=)
|
rs530353203
|
0.00009
|
|
NM_153006.3(NAGS):c.414C>T (p.Phe138=)
|
rs535765680
|
0.00009
|
|
NM_153006.3(NAGS):c.715G>A (p.Val239Ile)
|
rs143427275
|
0.00009
|
|
NM_153006.3(NAGS):c.912T>C (p.His304=)
|
rs373352475
|
0.00009
|
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
|
NM_201253.3(CRB1):c.1189G>C (p.Asp397His)
|
rs114264441
|
0.00009
|
|
NM_201253.3(CRB1):c.1305A>T (p.Gly435=)
|
rs34813822
|
0.00009
|
|
NM_201253.3(CRB1):c.1332C>T (p.Gly444=)
|
rs148865280
|
0.00009
|
|
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser)
|
rs143655463
|
0.00009
|
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
|
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)
|
rs138667698
|
0.00009
|
|
NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr)
|
rs559611648
|
0.00009
|
|
NC_000022.11:g.40346247A>G
|
rs1283422769
|
0.00008
|
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
|
NM_000017.4(ACADS):c.1149C>T (p.Arg383=)
|
rs371323002
|
0.00008
|
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
|
NM_000018.4(ACADVL):c.1182+17C>A
|
rs191276923
|
0.00008
|
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
|
NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)
|
rs199952982
|
0.00008
|
|
NM_000026.4(ADSL):c.567C>T (p.Val189=)
|
rs765353500
|
0.00008
|
|
NM_000045.4(ARG1):c.831A>G (p.Glu277=)
|
rs748654016
|
0.00008
|
|
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)
|
rs139410488
|
0.00008
|
|
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)
|
rs767543051
|
0.00008
|
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
|
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)
|
rs143508372
|
0.00008
|
|
NM_000048.4(ASL):c.603-20A>G
|
rs376008291
|
0.00008
|
|
NM_000048.4(ASL):c.656-14T>A
|
rs756638742
|
0.00008
|
|
NM_000048.4(ASL):c.72C>T (p.Phe24=)
|
rs760059034
|
0.00008
|
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
|
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)
|
rs759502207
|
0.00008
|
|
NM_000071.3(CBS):c.400G>A (p.Gly134Arg)
|
rs147474549
|
0.00008
|
|
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)
|
rs765811825
|
0.00008
|
|
NM_000071.3(CBS):c.955-19G>A
|
rs780694307
|
0.00008
|
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
|
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)
|
rs369713466
|
0.00008
|
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
|
NM_000137.4(FAH):c.1008C>T (p.Asn336=)
|
rs373285527
|
0.00008
|
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
|
NM_000159.4(GCDH):c.127+8C>T
|
rs371007485
|
0.00008
|
|
NM_000159.4(GCDH):c.1299G>A (p.Ala433=)
|
rs150271870
|
0.00008
|
|
NM_000159.4(GCDH):c.801C>T (p.Asp267=)
|
rs141293881
|
0.00008
|
|
NM_000159.4(GCDH):c.915G>A (p.Ser305=)
|
rs375120734
|
0.00008
|
|
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)
|
rs370059118
|
0.00008
|
|
NM_000161.3(GCH1):c.147C>G (p.Pro49=)
|
rs377631489
|
0.00008
|
|
NM_000161.3(GCH1):c.354C>T (p.Asn118=)
|
rs779337121
|
0.00008
|
|
NM_000161.3(GCH1):c.509+3A>G
|
rs369661042
|
0.00008
|
|
NM_000170.3(GLDC):c.2053-12T>C
|
rs376968366
|
0.00008
|
|
NM_000170.3(GLDC):c.832G>A (p.Glu278Lys)
|
rs779837711
|
0.00008
|
|
NM_000170.3(GLDC):c.94C>T (p.Pro32Ser)
|
rs1004754180
|
0.00008
|
|
NM_000182.5(HADHA):c.1629T>C (p.Pro543=)
|
rs1056729658
|
0.00008
|
|
NM_000187.4(HGD):c.969G>A (p.Gly323=)
|
rs376724242
|
0.00008
|
|
NM_000254.3(MTR):c.2196+19G>T
|
rs372533462
|
0.00008
|
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
|
NM_000274.4(OAT):c.283C>T (p.Pro95Ser)
|
rs372105047
|
0.00008
|
|
NM_000274.4(OAT):c.539G>C (p.Arg180Thr)
|
rs121965040
|
0.00008
|
|
NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)
|
rs770815981
|
0.00008
|
|
NM_000276.4(OCRL):c.561-7T>A
|
rs376622194
|
0.00008
|
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
|
NM_000277.3(PAH):c.837C>T (p.Pro279=)
|
rs138355741
|
0.00008
|
|
NM_000282.4(PCCA):c.1289G>A (p.Arg430Gln)
|
rs187346936
|
0.00008
|
|
NM_000282.4(PCCA):c.1540+20T>C
|
rs754203055
|
0.00008
|
|
NM_000282.4(PCCA):c.1840G>A (p.Val614Ile)
|
rs201570336
|
0.00008
|
|
NM_000282.4(PCCA):c.490A>G (p.Ile164Val)
|
rs539693612
|
0.00008
|
|
NM_000282.4(PCCA):c.638-10C>T
|
rs763390049
|
0.00008
|
|
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
|
rs187198628
|
0.00008
|
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
|
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
|
rs763317722
|
0.00008
|
|
NM_000329.3(RPE65):c.94+9C>A
|
rs747174742
|
0.00008
|
|
NM_000341.4(SLC3A1):c.1011+12T>C
|
rs370288046
|
0.00008
|
|
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His)
|
rs140452488
|
0.00008
|
|
NM_000353.3(TAT):c.890G>A (p.Arg297Gln)
|
rs367954923
|
0.00008
|
|
NM_000360.4(TH):c.1475C>T (p.Ala492Val)
|
rs201219944
|
0.00008
|
|
NM_000360.4(TH):c.576+6_576+14del
|
rs775531779
|
0.00008
|
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
|
NM_000532.5(PCCB):c.561C>T (p.Ser187=)
|
rs145057852
|
0.00008
|
|
NM_000709.4(BCKDHA):c.1329C>T (p.Phe443=)
|
rs148224513
|
0.00008
|
|
NM_000709.4(BCKDHA):c.176C>T (p.Ala59Val)
|
rs138373035
|
0.00008
|
|
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)
|
rs1026408197
|
0.00008
|
|
NM_001010867.4(IBA57):c.680-5T>A
|
rs577050962
|
0.00008
|
|
NM_001017989.3(OPA3):c.406T>C (p.Leu136=)
|
rs535476484
|
0.00008
|
|
NM_001024845.3(SLC6A9):c.1709G>A (p.Arg570His)
|
rs141553063
|
0.00008
|
|
NM_001024845.3(SLC6A9):c.490A>C (p.Asn164His)
|
rs199558856
|
0.00008
|
|
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg)
|
rs72552284
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.1668+20A>G
|
rs543880615
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=)
|
rs779250946
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=)
|
rs759754710
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys)
|
rs375415852
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.4591-5C>T
|
rs199631921
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.4779T>C (p.Tyr1593=)
|
rs774619836
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.5401-10G>A
|
rs370129945
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.979-10C>A
|
rs374647321
|
0.00008
|
|
NM_001271.4(CHD2):c.1038C>T (p.Asp346=)
|
rs148706063
|
0.00008
|
|
NM_001271.4(CHD2):c.4212A>G (p.Gln1404=)
|
rs202074164
|
0.00008
|
|
NM_001278293.3(ARL6):c.350-7C>T
|
rs375454860
|
0.00008
|
|
NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile)
|
rs376903098
|
0.00008
|
|
NM_001352514.2(HLCS):c.1923C>T (p.Gly641=)
|
rs746277054
|
0.00008
|
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
|
NM_001609.4(ACADSB):c.1213C>T (p.Arg405Ter)
|
rs200154326
|
0.00008
|
|
NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)
|
rs144894218
|
0.00008
|
|
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter)
|
rs374420253
|
0.00008
|
|
NM_001739.2(CA5A):c.624G>A (p.Ala208=)
|
rs370926490
|
0.00008
|
|
NM_001875.5(CPS1):c.1836+15A>G
|
rs370795545
|
0.00008
|
|
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=)
|
rs780550238
|
0.00008
|
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
|
NM_001875.5(CPS1):c.732A>G (p.Leu244=)
|
rs565797284
|
0.00008
|
|
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=)
|
rs147929770
|
0.00008
|
|
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys)
|
rs376065198
|
0.00008
|
|
NM_002150.3(HPD):c.356G>A (p.Arg119Gln)
|
rs149180825
|
0.00008
|
|
NM_002454.3(MTRR):c.1058-17C>T
|
rs754619256
|
0.00008
|
|
NM_002454.3(MTRR):c.129+10G>A
|
rs6413427
|
0.00008
|
|
NM_002454.3(MTRR):c.1676+3A>G
|
rs369853875
|
0.00008
|
|
NM_002860.4(ALDH18A1):c.678C>T (p.Val226=)
|
rs772829720
|
0.00008
|
|
NM_002860.4(ALDH18A1):c.868G>A (p.Gly290Arg)
|
rs368147360
|
0.00008
|
|
NM_003042.4(SLC6A1):c.1071G>A (p.Ala357=)
|
rs1139553
|
0.00008
|
|
NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg)
|
rs28383482
|
0.00008
|
|
NM_003060.4(SLC22A5):c.1586G>T (p.Gly529Val)
|
rs201307440
|
0.00008
|
|
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=)
|
rs367673752
|
0.00008
|
|
NM_003982.4(SLC7A7):c.250G>A (p.Val84Ile)
|
rs368317123
|
0.00008
|
|
NM_004408.4(DNM1):c.117C>T (p.Gly39=)
|
rs142432944
|
0.00008
|
|
NM_004937.3(CTNS):c.356G>A (p.Arg119His)
|
rs375970075
|
0.00008
|
|
NM_004937.3(CTNS):c.461+16G>A
|
rs201772152
|
0.00008
|
|
NM_004937.3(CTNS):c.633C>T (p.His211=)
|
rs150428029
|
0.00008
|
|
NM_004974.4(KCNA2):c.1023T>C (p.Leu341=)
|
rs139525148
|
0.00008
|
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
|
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)
|
rs782684668
|
0.00008
|
|
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=)
|
rs782477779
|
0.00008
|
|
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=)
|
rs199640501
|
0.00008
|
|
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met)
|
rs1301772452
|
0.00008
|
|
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=)
|
rs1803330
|
0.00008
|
|
NM_005881.4(BCKDK):c.936-10A>G
|
rs374677650
|
0.00008
|
|
NM_005957.5(MTHFR):c.1155T>C (p.Pro385=)
|
rs113989925
|
0.00008
|
|
NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp)
|
rs138189536
|
0.00008
|
|
NM_006623.4(PHGDH):c.1560G>A (p.Ala520=)
|
rs145788723
|
0.00008
|
|
NM_006623.4(PHGDH):c.181G>A (p.Ala61Thr)
|
rs140185619
|
0.00008
|
|
NM_006623.4(PHGDH):c.780C>T (p.Asp260=)
|
rs146220907
|
0.00008
|
|
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
|
rs374709255
|
0.00008
|
|
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp)
|
rs773196234
|
0.00008
|
|
NM_012213.3(MLYCD):c.763G>A (p.Val255Met)
|
rs377566911
|
0.00008
|
|
NM_014251.3(SLC25A13):c.1842-12C>A
|
rs201468457
|
0.00008
|
|
NM_014251.3(SLC25A13):c.848G>A (p.Gly283Glu)
|
rs544756381
|
0.00008
|
|
NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)
|
rs200185893
|
0.00008
|
|
NM_014384.3(ACAD8):c.841+9C>T
|
rs777635296
|
0.00008
|
|
NM_014384.3(ACAD8):c.842-18G>A
|
rs578153873
|
0.00008
|
|
NM_015509.4(NECAP1):c.114A>G (p.Leu38=)
|
rs141295769
|
0.00008
|
|
NM_015509.4(NECAP1):c.492+19A>G
|
rs150800929
|
0.00008
|
|
NM_015662.3(IFT172):c.1331G>A (p.Arg444His)
|
rs751965696
|
0.00008
|
|
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln)
|
rs144890293
|
0.00008
|
|
NM_015662.3(IFT172):c.1983T>A (p.His661Gln)
|
rs150739354
|
0.00008
|
|
NM_015662.3(IFT172):c.2103C>A (p.Ile701=)
|
rs138604630
|
0.00008
|
|
NM_015662.3(IFT172):c.2366G>A (p.Arg789Gln)
|
rs148237432
|
0.00008
|
|
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=)
|
rs143011753
|
0.00008
|
|
NM_015662.3(IFT172):c.732C>T (p.Thr244=)
|
rs778790509
|
0.00008
|
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
|
NM_015702.3(MMADHC):c.610-12C>A
|
rs371855955
|
0.00008
|
|
NM_016335.6(PRODH):c.1011+11C>T
|
rs533126839
|
0.00008
|
|
NM_016335.6(PRODH):c.733-9C>T
|
rs372502306
|
0.00008
|
|
NM_018368.4(LMBRD1):c.1188+17del
|
rs538437940
|
0.00008
|
|
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn)
|
rs200639044
|
0.00008
|
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
|
NM_018706.7(DHTKD1):c.1326C>G (p.Phe442Leu)
|
rs781444343
|
0.00008
|
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
|
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)
|
rs142629318
|
0.00008
|
|
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
|
rs548542949
|
0.00008
|
|
NM_032861.4(SERAC1):c.1403+11C>T
|
rs369586400
|
0.00008
|
|
NM_032861.4(SERAC1):c.418A>G (p.Ser140Gly)
|
rs370340688
|
0.00008
|
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
|
NM_054012.4(ASS1):c.1056C>T (p.Ser352=)
|
rs766889925
|
0.00008
|
|
NM_054012.4(ASS1):c.175-5C>T
|
rs747058030
|
0.00008
|
|
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro)
|
rs559043503
|
0.00008
|
|
NM_054012.4(ASS1):c.773C>T (p.Ala258Val)
|
rs753078725
|
0.00008
|
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
|
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
|
rs1373363345
|
0.00008
|
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
|
NM_153006.3(NAGS):c.1269-18G>A
|
rs369686713
|
0.00008
|
|
NM_153006.3(NAGS):c.722T>C (p.Val241Ala)
|
rs201142696
|
0.00008
|
|
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
|
NM_177550.5(SLC13A5):c.1365C>T (p.Leu455=)
|
rs572994797
|
0.00008
|
|
NM_177550.5(SLC13A5):c.862G>A (p.Gly288Arg)
|
rs761215437
|
0.00008
|
|
NM_177550.5(SLC13A5):c.931C>T (p.Pro311Ser)
|
rs201678684
|
0.00008
|
|
NM_183050.4(BCKDHB):c.840+10A>G
|
rs561940940
|
0.00008
|
|
NM_201253.3(CRB1):c.2843-10C>T
|
rs535242318
|
0.00008
|
|
NM_201253.3(CRB1):c.3471C>T (p.Ile1157=)
|
rs533882653
|
0.00008
|
|
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
|
rs762114560
|
0.00007
|
|
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)
|
rs121434278
|
0.00007
|
|
NM_000017.4(ACADS):c.204G>A (p.Ala68=)
|
rs374124706
|
0.00007
|
|
NM_000017.4(ACADS):c.327C>T (p.Cys109=)
|
rs144083614
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-7T>C
|
rs760625298
|
0.00007
|
|
NM_000018.4(ACADVL):c.205-8C>G
|
rs774353448
|
0.00007
|
|
NM_000019.4(ACAT1):c.1198C>T (p.His400Tyr)
|
rs201183545
|
0.00007
|
|
NM_000019.4(ACAT1):c.239-8T>A
|
rs202030208
|
0.00007
|
|
NM_000045.4(ARG1):c.665+4G>A
|
rs371976737
|
0.00007
|
|
NM_000045.4(ARG1):c.746T>C (p.Val249Ala)
|
rs755779260
|
0.00007
|
|
NM_000048.4(ASL):c.1134C>T (p.Val378=)
|
rs143883756
|
0.00007
|
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
|
NM_000048.4(ASL):c.174C>T (p.Ala58=)
|
rs376104424
|
0.00007
|
|
NM_000048.4(ASL):c.303T>C (p.Gly101=)
|
rs746665818
|
0.00007
|
|
NM_000048.4(ASL):c.330A>G (p.Gly110=)
|
rs147464765
|
0.00007
|
|
NM_000071.3(CBS):c.1338G>A (p.Ala446=)
|
rs373962057
|
0.00007
|
|
NM_000071.3(CBS):c.345C>T (p.Gly115=)
|
rs374438247
|
0.00007
|
|
NM_000071.3(CBS):c.888G>A (p.Thr296=)
|
rs769593715
|
0.00007
|
|
NM_000108.5(DLD):c.119-4G>A
|
rs376605135
|
0.00007
|
|
NM_000156.6(GAMT):c.201G>A (p.Val67=)
|
rs745986528
|
0.00007
|
|
NM_000156.6(GAMT):c.314G>A (p.Arg105Gln)
|
rs148838075
|
0.00007
|
|
NM_000156.6(GAMT):c.396C>A (p.Ile132=)
|
rs200500835
|
0.00007
|
|
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys)
|
rs150938052
|
0.00007
|
|
NM_000159.4(GCDH):c.829C>T (p.Leu277Phe)
|
rs371654188
|
0.00007
|
|
NM_000159.4(GCDH):c.861C>T (p.Phe287=)
|
rs200757991
|
0.00007
|
|
NM_000161.3(GCH1):c.225C>T (p.Tyr75=)
|
rs961694546
|
0.00007
|
|
NM_000161.3(GCH1):c.297C>T (p.Ala99=)
|
rs776450369
|
0.00007
|
|
NM_000170.3(GLDC):c.1732A>C (p.Asn578His)
|
rs770315107
|
0.00007
|
|
NM_000170.3(GLDC):c.1850+17T>G
|
rs909283201
|
0.00007
|
|
NM_000170.3(GLDC):c.2446G>A (p.Ala816Thr)
|
rs775834004
|
0.00007
|
|
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser)
|
rs555919940
|
0.00007
|
|
NM_000170.3(GLDC):c.661G>A (p.Val221Ile)
|
rs144043066
|
0.00007
|
|
NM_000182.5(HADHA):c.1515G>A (p.Lys505=)
|
rs543680661
|
0.00007
|
|
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys)
|
rs370170143
|
0.00007
|
|
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu)
|
rs368455378
|
0.00007
|
|
NM_000182.5(HADHA):c.1935G>A (p.Arg645=)
|
rs762246988
|
0.00007
|
|
NM_000182.5(HADHA):c.2000+9G>A
|
rs200802583
|
0.00007
|
|
NM_000182.5(HADHA):c.513C>A (p.Thr171=)
|
rs139043179
|
0.00007
|
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
|
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)
|
rs538620811
|
0.00007
|
|
NM_000254.3(MTR):c.2474-3T>A
|
rs771491872
|
0.00007
|
|
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=)
|
rs777595935
|
0.00007
|
|
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=)
|
rs560615373
|
0.00007
|
|
NM_000254.3(MTR):c.558C>T (p.Gly186=)
|
rs139019399
|
0.00007
|
|
NM_000274.4(OAT):c.1110C>T (p.Ala370=)
|
rs148325838
|
0.00007
|
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
|
NM_000281.4(PCBD1):c.27C>T (p.Ser9=)
|
rs547375927
|
0.00007
|
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
|
NM_000320.3(QDPR):c.274G>A (p.Gly92Arg)
|
rs757963200
|
0.00007
|
|
NM_000320.3(QDPR):c.563C>T (p.Pro188Leu)
|
rs374458448
|
0.00007
|
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
|
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
|
rs750099371
|
0.00007
|
|
NM_000329.3(RPE65):c.95-10T>A
|
rs547374432
|
0.00007
|
|
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp)
|
rs201502095
|
0.00007
|
|
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys)
|
rs148946634
|
0.00007
|
|
NM_000353.3(TAT):c.1281G>A (p.Met427Ile)
|
rs201364717
|
0.00007
|
|
NM_000353.3(TAT):c.69C>T (p.Asn23=)
|
rs370850249
|
0.00007
|
|
NM_000360.4(TH):c.1024C>T (p.Arg342Cys)
|
rs555810288
|
0.00007
|
|
NM_000360.4(TH):c.1476G>A (p.Ala492=)
|
rs146945950
|
0.00007
|
|
NM_000360.4(TH):c.167C>T (p.Ala56Val)
|
rs745974715
|
0.00007
|
|
NM_000360.4(TH):c.23C>T (p.Thr8Met)
|
rs373964946
|
0.00007
|
|
NM_000360.4(TH):c.240C>T (p.Ala80=)
|
rs371658705
|
0.00007
|
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
|
NM_000360.4(TH):c.645C>T (p.His215=)
|
rs768037080
|
0.00007
|
|
NM_000481.4(AMT):c.159G>A (p.Ala53=)
|
rs201080782
|
0.00007
|
|
NM_000481.4(AMT):c.713C>T (p.Ala238Val)
|
rs199985521
|
0.00007
|
|
NM_000532.5(PCCB):c.430-5C>G
|
rs369339939
|
0.00007
|
|
NM_000532.5(PCCB):c.8C>T (p.Ala3Val)
|
rs373685372
|
0.00007
|
|
NM_000532.5(PCCB):c.941A>G (p.Tyr314Cys)
|
rs148578333
|
0.00007
|
|
NM_000554.6(CRX):c.100+8C>T
|
rs375411321
|
0.00007
|
|
NM_000554.6(CRX):c.159G>A (p.Glu53=)
|
rs767773596
|
0.00007
|
|
NM_000554.6(CRX):c.253-11T>C
|
rs199991284
|
0.00007
|
|
NM_000554.6(CRX):c.565G>A (p.Ala189Thr)
|
rs142111462
|
0.00007
|
|
NM_000687.4(AHCY):c.769T>C (p.Tyr257His)
|
rs140810436
|
0.00007
|
|
NM_000687.4(AHCY):c.945C>T (p.Ala315=)
|
rs368716358
|
0.00007
|
|
NM_000687.4(AHCY):c.979C>T (p.Arg327Trp)
|
rs144383493
|
0.00007
|
|
NM_000709.4(BCKDHA):c.1167+14G>A
|
rs775372632
|
0.00007
|
|
NM_000709.4(BCKDHA):c.288+10G>A
|
rs376894084
|
0.00007
|
|
NM_000709.4(BCKDHA):c.517C>T (p.Leu173=)
|
rs747591833
|
0.00007
|
|
NM_001010867.4(IBA57):c.150C>T (p.Cys50=)
|
rs765132163
|
0.00007
|
|
NM_001010867.4(IBA57):c.748A>G (p.Met250Val)
|
rs370640121
|
0.00007
|
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
|
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)
|
rs145087265
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2172+9G>A
|
rs368353124
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr)
|
rs17846944
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)
|
rs754998423
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)
|
rs367882437
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.3048C>G (p.Asp1016Glu)
|
rs773821155
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)
|
rs1038705410
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=)
|
rs371952826
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)
|
rs201681631
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
|
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr)
|
rs759448696
|
0.00007
|
|
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val)
|
rs148768970
|
0.00007
|
|
NM_001258392.3(CLPB):c.1218T>C (p.Gly406=)
|
rs200323616
|
0.00007
|
|
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
|
rs139361195
|
0.00007
|
|
NM_001258392.3(CLPB):c.610A>G (p.Lys204Glu)
|
rs538184539
|
0.00007
|
|
NM_001258392.3(CLPB):c.921C>T (p.Phe307=)
|
rs561993207
|
0.00007
|
|
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
|
rs754295120
|
0.00007
|
|
NM_001271.4(CHD2):c.2506-11T>G
|
rs376323635
|
0.00007
|
|
NM_001271.4(CHD2):c.2578-18A>G
|
rs375711428
|
0.00007
|
|
NM_001271.4(CHD2):c.2703G>A (p.Ala901=)
|
rs776453723
|
0.00007
|
|
NM_001271.4(CHD2):c.2728-12C>G
|
rs544624674
|
0.00007
|
|
NM_001271.4(CHD2):c.4977C>T (p.Ser1659=)
|
rs769365893
|
0.00007
|
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
|
NM_001271.4(CHD2):c.984G>A (p.Gln328=)
|
rs944181807
|
0.00007
|
|
NM_001352514.2(HLCS):c.1669G>A (p.Glu557Lys)
|
rs745652723
|
0.00007
|
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
|
NM_001352514.2(HLCS):c.816C>T (p.Ala272=)
|
rs376665169
|
0.00007
|
|
NM_001370658.1(BTD):c.1344C>T (p.Phe448=)
|
rs781065270
|
0.00007
|
|
NM_001370658.1(BTD):c.1539G>A (p.Ala513=)
|
rs745376296
|
0.00007
|
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
|
NM_001482.3(GATM):c.1041C>T (p.Asp347=)
|
rs139599307
|
0.00007
|
|
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
|
rs377314096
|
0.00007
|
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
|
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg)
|
rs200214298
|
0.00007
|
|
NM_001876.4(CPT1A):c.2154C>T (p.Asp718=)
|
rs141868515
|
0.00007
|
|
NM_001876.4(CPT1A):c.525G>A (p.Pro175=)
|
rs371805329
|
0.00007
|
|
NM_001876.4(CPT1A):c.694-10C>T
|
rs201198921
|
0.00007
|
|
NM_001958.5(EEF1A2):c.171C>T (p.Ala57=)
|
rs572244463
|
0.00007
|
|
NM_001958.5(EEF1A2):c.369C>T (p.Phe123=)
|
rs375710105
|
0.00007
|
|
NM_001985.3(ETFB):c.18G>C (p.Val6=)
|
rs572600030
|
0.00007
|
|
NM_001985.3(ETFB):c.402A>G (p.Thr134=)
|
rs754039782
|
0.00007
|
|
NM_001985.3(ETFB):c.761G>A (p.Arg254Gln)
|
rs145173884
|
0.00007
|
|
NM_002150.3(HPD):c.415-4G>A
|
rs534922913
|
0.00007
|
|
NM_002150.3(HPD):c.815A>G (p.Glu272Gly)
|
rs375083142
|
0.00007
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
|
NM_002225.5(IVD):c.903C>T (p.His301=)
|
rs759116078
|
0.00007
|
|
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)
|
rs372106115
|
0.00007
|
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
|
NM_002454.3(MTRR):c.1998A>C (p.Gln666His)
|
rs767507060
|
0.00007
|
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
|
NM_002454.3(MTRR):c.519A>G (p.Ala173=)
|
rs776844185
|
0.00007
|
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.1604T>A (p.Leu535Gln)
|
rs200452017
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.2110+13A>G
|
rs375782465
|
0.00007
|
|
NM_002860.4(ALDH18A1):c.973G>A (p.Val325Ile)
|
rs192770256
|
0.00007
|
|
NM_003042.4(SLC6A1):c.1335T>C (p.Tyr445=)
|
rs758040188
|
0.00007
|
|
NM_003042.4(SLC6A1):c.1663A>G (p.Met555Val)
|
rs139846326
|
0.00007
|
|
NM_003060.4(SLC22A5):c.1284T>A (p.Ala428=)
|
rs780429964
|
0.00007
|
|
NM_003060.4(SLC22A5):c.1373T>C (p.Val458Ala)
|
rs753268767
|
0.00007
|
|
NM_003060.4(SLC22A5):c.415G>A (p.Asp139Asn)
|
rs577131769
|
0.00007
|
|
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln)
|
rs200699819
|
0.00007
|
|
NM_003060.4(SLC22A5):c.875A>T (p.Glu292Val)
|
rs371692440
|
0.00007
|
|
NM_003748.4(ALDH4A1):c.179G>A (p.Arg60Gln)
|
rs114609576
|
0.00007
|
|
NM_003748.4(ALDH4A1):c.490G>C (p.Ala164Pro)
|
rs369957092
|
0.00007
|
|
NM_003982.4(SLC7A7):c.1431G>A (p.Gly477=)
|
rs201993411
|
0.00007
|
|
NM_004408.4(DNM1):c.1422+18C>T
|
rs747813685
|
0.00007
|
|
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met)
|
rs772239774
|
0.00007
|
|
NM_004408.4(DNM1):c.2541G>A (p.Ser847=)
|
rs545142847
|
0.00007
|
|
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)
|
rs200290334
|
0.00007
|
|
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)
|
rs146982178
|
0.00007
|
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
|
NM_004937.3(CTNS):c.80C>A (p.Thr27Asn)
|
rs576315457
|
0.00007
|
|
NM_004974.4(KCNA2):c.1143T>C (p.Val381=)
|
rs200847196
|
0.00007
|
|
NM_004974.4(KCNA2):c.30C>T (p.Asp10=)
|
rs757960714
|
0.00007
|
|
NM_004975.4(KCNB1):c.2091C>T (p.Asn697=)
|
rs746382408
|
0.00007
|
|
NM_005050.4(ABCD4):c.1752+5C>T
|
rs370270229
|
0.00007
|
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
|
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
|
rs143479125
|
0.00007
|
|
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
|
rs753233201
|
0.00007
|
|
NM_005334.3(HCFC1):c.1085-16C>G
|
rs201181843
|
0.00007
|
|
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
|
rs782754046
|
0.00007
|
|
NM_005334.3(HCFC1):c.2029-9C>G
|
rs374910917
|
0.00007
|
|
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)
|
rs782058954
|
0.00007
|
|
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)
|
rs183246703
|
0.00007
|
|
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
|
NM_005518.4(HMGCS2):c.275G>A (p.Arg92His)
|
rs144921290
|
0.00007
|
|
NM_005518.4(HMGCS2):c.790C>T (p.Arg264Trp)
|
rs773945291
|
0.00007
|
|
NM_005629.4(SLC6A8):c.1597-20C>T
|
rs781894858
|
0.00007
|
|
NM_005629.4(SLC6A8):c.387G>T (p.Leu129=)
|
rs1448790929
|
0.00007
|
|
NM_005881.4(BCKDK):c.721C>T (p.Leu241=)
|
rs374121679
|
0.00007
|
|
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile)
|
rs371078966
|
0.00007
|
|
NM_005957.5(MTHFR):c.885C>G (p.Arg295=)
|
rs371474040
|
0.00007
|
|
NM_006623.4(PHGDH):c.261C>T (p.Ala87=)
|
rs761309245
|
0.00007
|
|
NM_006623.4(PHGDH):c.511-7C>T
|
rs748335207
|
0.00007
|
|
NM_006623.4(PHGDH):c.910G>A (p.Val304Met)
|
rs149175408
|
0.00007
|
|
NM_006859.4(LIAS):c.1116C>G (p.Leu372=)
|
rs376183576
|
0.00007
|
|
NM_012213.3(MLYCD):c.1278C>T (p.Asn426=)
|
rs367874845
|
0.00007
|
|
NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)
|
rs774562949
|
0.00007
|
|
NM_014384.3(ACAD8):c.455T>C (p.Met152Thr)
|
rs121908418
|
0.00007
|
|
NM_014384.3(ACAD8):c.984C>T (p.Ala328=)
|
rs766640729
|
0.00007
|
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
|
NM_015662.3(IFT172):c.1525-19C>T
|
rs764463970
|
0.00007
|
|
NM_015662.3(IFT172):c.2668G>A (p.Ala890Thr)
|
rs202216329
|
0.00007
|
|
NM_015662.3(IFT172):c.3711+17A>G
|
rs376488082
|
0.00007
|
|
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=)
|
rs774451726
|
0.00007
|
|
NM_015662.3(IFT172):c.4816-8T>C
|
rs371396353
|
0.00007
|
|
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser)
|
rs771817287
|
0.00007
|
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
0.00007
|
|
NM_016335.6(PRODH):c.392G>A (p.Arg131Gln)
|
rs145456430
|
0.00007
|
|
NM_016579.4(CD320):c.277C>T (p.Pro93Ser)
|
rs377236965
|
0.00007
|
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
|
NM_018706.7(DHTKD1):c.1419G>A (p.Thr473=)
|
rs370218003
|
0.00007
|
|
NM_018706.7(DHTKD1):c.1671+3G>A
|
rs369606311
|
0.00007
|
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
|
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
|
rs142507365
|
0.00007
|
|
NM_020686.6(ABAT):c.1430C>T (p.Thr477Met)
|
rs778305265
|
0.00007
|
|
NM_020686.6(ABAT):c.1488A>G (p.Leu496=)
|
rs772187224
|
0.00007
|
|
NM_020686.6(ABAT):c.330C>T (p.Pro110=)
|
rs142857998
|
0.00007
|
|
NM_020686.6(ABAT):c.864C>T (p.Ala288=)
|
rs149855547
|
0.00007
|
|
NM_020686.6(ABAT):c.929G>A (p.Arg310Gln)
|
rs778974775
|
0.00007
|
|
NM_020686.6(ABAT):c.955-7C>T
|
rs771443083
|
0.00007
|
|
NM_022132.5(MCCC2):c.1488+10G>A
|
rs190514867
|
0.00007
|
|
NM_022132.5(MCCC2):c.738+16C>T
|
rs554502924
|
0.00007
|
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
|
NM_054012.4(ASS1):c.174+10G>A
|
rs371597908
|
0.00007
|
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
|
NM_058179.4(PSAT1):c.121+16G>A
|
rs184944122
|
0.00007
|
|
NM_145261.4(DNAJC19):c.280+2dup
|
rs756616792
|
0.00007
|
|
NM_153006.3(NAGS):c.1171C>G (p.Leu391Val)
|
rs537949245
|
0.00007
|
|
NM_172250.3(MMAA):c.1236A>G (p.Lys412=)
|
rs184111056
|
0.00007
|
|
NM_172250.3(MMAA):c.733+13T>C
|
rs768662983
|
0.00007
|
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
|
NM_177550.5(SLC13A5):c.1074T>C (p.Thr358=)
|
rs369156060
|
0.00007
|
|
NM_177550.5(SLC13A5):c.1442G>A (p.Arg481His)
|
rs762789388
|
0.00007
|
|
NM_177550.5(SLC13A5):c.1461G>A (p.Pro487=)
|
rs374067396
|
0.00007
|
|
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)
|
rs533227950
|
0.00007
|
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
|
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
|
rs1006177908
|
0.00007
|
|
NM_201253.3(CRB1):c.3372A>G (p.Gln1124=)
|
rs376135634
|
0.00007
|
|
NM_201253.3(CRB1):c.825G>A (p.Gly275=)
|
rs149685264
|
0.00007
|
|
NM_205861.3(DHDDS):c.874G>A (p.Ala292Thr)
|
rs376234168
|
0.00007
|
|
NC_000022.11:g.40345639T>C
|
rs528540026
|
0.00006
|
|
NC_000022.11:g.40345994G>C
|
rs1032678851
|
0.00006
|
|
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly)
|
rs768440594
|
0.00006
|
|
NM_000016.6(ACADM):c.1032T>A (p.Val344=)
|
rs774315514
|
0.00006
|
|
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr)
|
rs760892123
|
0.00006
|
|
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu)
|
rs200376609
|
0.00006
|
|
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg)
|
rs751647383
|
0.00006
|
|
NM_000016.6(ACADM):c.582C>T (p.Asn194=)
|
rs778535261
|
0.00006
|
|
NM_000016.6(ACADM):c.945+9A>G
|
rs768654898
|
0.00006
|
|
NM_000017.4(ACADS):c.1050G>T (p.Leu350=)
|
rs768748973
|
0.00006
|
|
NM_000017.4(ACADS):c.1095G>T (p.Gln365His)
|
rs368469075
|
0.00006
|
|
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter)
|
rs767774362
|
0.00006
|
|
NM_000017.4(ACADS):c.225C>T (p.Gly75=)
|
rs370478896
|
0.00006
|
|
NM_000017.4(ACADS):c.250G>A (p.Val84Met)
|
rs751283667
|
0.00006
|
|
NM_000017.4(ACADS):c.40C>G (p.Arg14Gly)
|
rs542140065
|
0.00006
|
|
NM_000017.4(ACADS):c.575C>T (p.Ala192Val)
|
rs28940874
|
0.00006
|
|
NM_000017.4(ACADS):c.624+11C>T
|
rs763811046
|
0.00006
|
|
NM_000017.4(ACADS):c.668C>T (p.Thr223Met)
|
rs143131689
|
0.00006
|
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
|
NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)
|
rs121908006
|
0.00006
|
|
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)
|
rs775537775
|
0.00006
|
|
NM_000018.4(ACADVL):c.264C>T (p.Phe88=)
|
rs147357106
|
0.00006
|
|
NM_000018.4(ACADVL):c.583A>G (p.Lys195Glu)
|
rs199763196
|
0.00006
|
|
NM_000018.4(ACADVL):c.62+18G>A
|
rs780776419
|
0.00006
|
|
NM_000018.4(ACADVL):c.686G>A (p.Arg229Gln)
|
rs777955007
|
0.00006
|
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
|
NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)
|
rs762991875
|
0.00006
|
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
|
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)
|
rs772974251
|
0.00006
|
|
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)
|
rs368501116
|
0.00006
|
|
NM_000026.4(ADSL):c.792+6T>C
|
rs768892416
|
0.00006
|
|
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)
|
rs376912453
|
0.00006
|
|
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)
|
rs376357524
|
0.00006
|
|
NM_000045.4(ARG1):c.135T>C (p.Cys45=)
|
rs372415368
|
0.00006
|
|
NM_000045.4(ARG1):c.333T>C (p.His111=)
|
rs200458963
|
0.00006
|
|
NM_000048.4(ASL):c.1045G>A (p.Val349Ile)
|
rs372774556
|
0.00006
|
|
NM_000048.4(ASL):c.1293G>A (p.Gly431=)
|
rs977248418
|
0.00006
|
|
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)
|
rs759396688
|
0.00006
|
|
NM_000048.4(ASL):c.207+10G>A
|
rs754479563
|
0.00006
|
|
NM_000048.4(ASL):c.207+9C>T
|
rs766219256
|
0.00006
|
|
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)
|
rs201352504
|
0.00006
|
|
NM_000048.4(ASL):c.656-4C>A
|
rs571362354
|
0.00006
|
|
NM_000048.4(ASL):c.688A>G (p.Met230Val)
|
rs143957662
|
0.00006
|
|
NM_000048.4(ASL):c.849G>C (p.Leu283=)
|
rs771334759
|
0.00006
|
|
NM_000048.4(ASL):c.919-10C>T
|
rs199585001
|
0.00006
|
|
NM_000071.3(CBS):c.1039+3G>A
|
rs747384273
|
0.00006
|
|
NM_000071.3(CBS):c.1161C>T (p.Ser387=)
|
rs149280976
|
0.00006
|
|
NM_000071.3(CBS):c.1266G>A (p.Pro422=)
|
rs150146702
|
0.00006
|
|
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)
|
rs780508029
|
0.00006
|
|
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)
|
rs752596508
|
0.00006
|
|
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)
|
rs201098477
|
0.00006
|
|
NM_000071.3(CBS):c.1413G>C (p.Gly471=)
|
rs777859460
|
0.00006
|
|
NM_000071.3(CBS):c.1425G>A (p.Pro475=)
|
rs147885808
|
0.00006
|
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
|
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)
|
rs1060500680
|
0.00006
|
|
NM_000071.3(CBS):c.1626C>T (p.Phe542=)
|
rs758818777
|
0.00006
|
|
NM_000071.3(CBS):c.352G>A (p.Val118Met)
|
rs763385546
|
0.00006
|
|
NM_000071.3(CBS):c.452-12G>T
|
rs780064320
|
0.00006
|
|
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
|
rs121964973
|
0.00006
|
|
NM_000071.3(CBS):c.610G>A (p.Val204Met)
|
rs372679328
|
0.00006
|
|
NM_000071.3(CBS):c.612G>C (p.Val204=)
|
rs539670390
|
0.00006
|
|
NM_000071.3(CBS):c.65A>G (p.His22Arg)
|
rs763151207
|
0.00006
|
|
NM_000071.3(CBS):c.69G>A (p.Ser23=)
|
rs769704501
|
0.00006
|
|
NM_000071.3(CBS):c.737-10C>T
|
rs546751042
|
0.00006
|
|
NM_000071.3(CBS):c.786G>A (p.Thr262=)
|
rs551782391
|
0.00006
|
|
NM_000071.3(CBS):c.828+20C>T
|
rs771093015
|
0.00006
|
|
NM_000071.3(CBS):c.954+7C>T
|
rs554429567
|
0.00006
|
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
|
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
|
rs564889609
|
0.00006
|
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
|
NM_000108.5(DLD):c.609T>C (p.Ser203=)
|
rs144590106
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
|
NM_000126.4(ETFA):c.269-15G>A
|
rs371793833
|
0.00006
|
|
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)
|
rs199673198
|
0.00006
|
|
NM_000126.4(ETFA):c.817-12C>T
|
rs752918296
|
0.00006
|
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
|
NM_000137.4(FAH):c.302A>G (p.Glu101Gly)
|
rs758347578
|
0.00006
|
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
|
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)
|
rs886054247
|
0.00006
|
|
NM_000156.6(GAMT):c.313C>T (p.Arg105Trp)
|
rs757909053
|
0.00006
|
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
|
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg)
|
rs372983141
|
0.00006
|
|
NM_000159.4(GCDH):c.506-8G>T
|
rs376016112
|
0.00006
|
|
NM_000159.4(GCDH):c.885C>T (p.Tyr295=)
|
rs139192015
|
0.00006
|
|
NM_000161.3(GCH1):c.582G>A (p.Thr194=)
|
rs199836777
|
0.00006
|
|
NM_000170.3(GLDC):c.1121G>A (p.Arg374Lys)
|
rs141065026
|
0.00006
|
|
NM_000170.3(GLDC):c.1770A>G (p.Gly590=)
|
rs368034833
|
0.00006
|
|
NM_000170.3(GLDC):c.1824T>C (p.Tyr608=)
|
rs542429544
|
0.00006
|
|
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)
|
rs201135624
|
0.00006
|
|
NM_000170.3(GLDC):c.2028C>T (p.Ile676=)
|
rs372604935
|
0.00006
|
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
|
NM_000170.3(GLDC):c.258C>T (p.Ser86=)
|
rs562000292
|
0.00006
|
|
NM_000170.3(GLDC):c.2601G>A (p.Thr867=)
|
rs371678175
|
0.00006
|
|
NM_000170.3(GLDC):c.2612A>G (p.Lys871Arg)
|
rs766244892
|
0.00006
|
|
NM_000170.3(GLDC):c.2810G>A (p.Arg937His)
|
rs151100082
|
0.00006
|
|
NM_000170.3(GLDC):c.2919C>T (p.Leu973=)
|
rs113736090
|
0.00006
|
|
NM_000170.3(GLDC):c.2920-8C>T
|
rs138786708
|
0.00006
|
|
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
|
rs139931025
|
0.00006
|
|
NM_000170.3(GLDC):c.78G>C (p.Ser26=)
|
rs915226152
|
0.00006
|
|
NM_000170.3(GLDC):c.934A>G (p.Ile312Val)
|
rs1351445046
|
0.00006
|
|
NM_000170.3(GLDC):c.960T>G (p.Phe320Leu)
|
rs771868469
|
0.00006
|
|
NM_000182.5(HADHA):c.1425C>T (p.Asn475=)
|
rs774394602
|
0.00006
|
|
NM_000182.5(HADHA):c.2010C>T (p.Asp670=)
|
rs377688807
|
0.00006
|
|
NM_000182.5(HADHA):c.816C>A (p.Ala272=)
|
rs764851270
|
0.00006
|
|
NM_000182.5(HADHA):c.975+6C>T
|
rs766717752
|
0.00006
|
|
NM_000187.4(HGD):c.158G>A (p.Arg53Gln)
|
rs200808744
|
0.00006
|
|
NM_000187.4(HGD):c.365C>T (p.Ala122Val)
|
rs544956641
|
0.00006
|
|
NM_000187.4(HGD):c.501C>T (p.Thr167=)
|
rs146878140
|
0.00006
|
|
NM_000187.4(HGD):c.550-14G>C
|
rs769000073
|
0.00006
|
|
NM_000187.4(HGD):c.786G>A (p.Pro262=)
|
rs747648606
|
0.00006
|
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
|
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
|
rs142942001
|
0.00006
|
|
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)
|
rs139799938
|
0.00006
|
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
|
NM_000191.3(HMGCL):c.882G>A (p.Val294=)
|
rs1370242689
|
0.00006
|
|
NM_000240.4(MAOA):c.109G>A (p.Val37Ile)
|
rs779299641
|
0.00006
|
|
NM_000240.4(MAOA):c.1119C>A (p.Ile373=)
|
rs200913136
|
0.00006
|
|
NM_000240.4(MAOA):c.1389C>T (p.Leu463=)
|
rs771568228
|
0.00006
|
|
NM_000240.4(MAOA):c.412-13C>T
|
rs763906089
|
0.00006
|
|
NM_000254.3(MTR):c.1076-11C>T
|
rs186367553
|
0.00006
|
|
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr)
|
rs368619885
|
0.00006
|
|
NM_000254.3(MTR):c.2861C>T (p.Thr954Met)
|
rs146931200
|
0.00006
|
|
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys)
|
rs769801712
|
0.00006
|
|
NM_000254.3(MTR):c.502+13C>T
|
rs201647375
|
0.00006
|
|
NM_000254.3(MTR):c.55C>T (p.Arg19Trp)
|
rs376681897
|
0.00006
|
|
NM_000254.3(MTR):c.901C>G (p.Pro301Ala)
|
rs766371534
|
0.00006
|
|
NM_000254.3(MTR):c.996-20T>C
|
rs772967310
|
0.00006
|
|
NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)
|
rs148646884
|
0.00006
|
|
NM_000276.4(OCRL):c.284G>A (p.Arg95His)
|
rs770375201
|
0.00006
|
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
|
NM_000277.3(PAH):c.352+11G>C
|
rs371926082
|
0.00006
|
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
|
NM_000277.3(PAH):c.804C>T (p.Tyr268=)
|
rs748337823
|
0.00006
|
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
|
NM_000282.4(PCCA):c.1350A>G (p.Ser450=)
|
rs755614638
|
0.00006
|
|
NM_000282.4(PCCA):c.1515C>T (p.Ser505=)
|
rs201162791
|
0.00006
|
|
NM_000282.4(PCCA):c.1713C>T (p.Thr571=)
|
rs778536273
|
0.00006
|
|
NM_000282.4(PCCA):c.1900-15T>G
|
rs769815745
|
0.00006
|
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
|
NM_000282.4(PCCA):c.483C>T (p.Val161=)
|
rs370402818
|
0.00006
|
|
NM_000282.4(PCCA):c.522G>A (p.Met174Ile)
|
rs780406346
|
0.00006
|
|
NM_000282.4(PCCA):c.716+19T>C
|
rs201320992
|
0.00006
|
|
NM_000317.3(PTS):c.399C>T (p.Tyr133=)
|
rs199603175
|
0.00006
|
|
NM_000320.3(QDPR):c.199-10T>G
|
rs200393206
|
0.00006
|
|
NM_000320.3(QDPR):c.519C>T (p.Pro173=)
|
rs368614041
|
0.00006
|
|
NM_000320.3(QDPR):c.621C>T (p.Phe207=)
|
rs200518175
|
0.00006
|
|
NM_000320.3(QDPR):c.7G>A (p.Ala3Thr)
|
rs769620717
|
0.00006
|
|
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)
|
rs750890448
|
0.00006
|
|
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
|
rs144673747
|
0.00006
|
|
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
|
rs200950327
|
0.00006
|
|
NM_000329.3(RPE65):c.1244-20G>A
|
rs772290877
|
0.00006
|
|
NM_000329.3(RPE65):c.245+14C>T
|
rs368381348
|
0.00006
|
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
|
NM_000329.3(RPE65):c.859-10A>G
|
rs752810906
|
0.00006
|
|
NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)
|
rs375399468
|
0.00006
|
|
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val)
|
rs200093674
|
0.00006
|
|
NM_000353.3(TAT):c.1090C>T (p.Arg364Trp)
|
rs371975183
|
0.00006
|
|
NM_000353.3(TAT):c.231C>A (p.Ser77=)
|
rs562235592
|
0.00006
|
|
NM_000353.3(TAT):c.235+11G>C
|
rs376600004
|
0.00006
|
|
NM_000353.3(TAT):c.548T>C (p.Val183Ala)
|
rs770033832
|
0.00006
|
|
NM_000353.3(TAT):c.759+5G>A
|
rs767912599
|
0.00006
|
|
NM_000353.3(TAT):c.93G>A (p.Pro31=)
|
rs757389308
|
0.00006
|
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
|
NM_000360.4(TH):c.1236C>T (p.Phe412=)
|
rs367624648
|
0.00006
|
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
|
NM_000360.4(TH):c.263C>T (p.Pro88Leu)
|
rs150260759
|
0.00006
|
|
NM_000360.4(TH):c.362C>T (p.Pro121Leu)
|
rs760017478
|
0.00006
|
|
NM_000360.4(TH):c.394G>A (p.Val132Met)
|
rs751702426
|
0.00006
|
|
NM_000360.4(TH):c.487+8G>A
|
rs749511812
|
0.00006
|
|
NM_000360.4(TH):c.550G>A (p.Asp184Asn)
|
rs139807727
|
0.00006
|
|
NM_000360.4(TH):c.644+19C>T
|
rs769248793
|
0.00006
|
|
NM_000360.4(TH):c.674C>A (p.Thr225Asn)
|
rs141907589
|
0.00006
|
|
NM_000360.4(TH):c.91-897C>T
|
rs762373165
|
0.00006
|
|
NM_000387.6(SLC25A20):c.88C>G (p.Pro30Ala)
|
rs780569251
|
0.00006
|
|
NM_000481.4(AMT):c.13G>T (p.Val5Leu)
|
rs764032357
|
0.00006
|
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
|
NM_000481.4(AMT):c.401A>G (p.Asn134Ser)
|
rs776832405
|
0.00006
|
|
NM_000481.4(AMT):c.555C>T (p.Pro185=)
|
rs144790394
|
0.00006
|
|
NM_000481.4(AMT):c.91-9C>T
|
rs761235679
|
0.00006
|
|
NM_000531.6(OTC):c.299-18C>T
|
rs5917586
|
0.00006
|
|
NM_000531.6(OTC):c.541-11G>A
|
rs374923521
|
0.00006
|
|
NM_000532.5(PCCB):c.1198+11G>C
|
rs952515018
|
0.00006
|
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
|
NM_000532.5(PCCB):c.554C>T (p.Thr185Met)
|
rs369612150
|
0.00006
|
|
NM_000532.5(PCCB):c.641C>T (p.Thr214Met)
|
rs375740942
|
0.00006
|
|
NM_000532.5(PCCB):c.66C>G (p.Arg22=)
|
rs759836996
|
0.00006
|
|
NM_000532.5(PCCB):c.707A>G (p.Asn236Ser)
|
rs778955184
|
0.00006
|
|
NM_000532.5(PCCB):c.744G>C (p.Lys248Asn)
|
rs757845027
|
0.00006
|
|
NM_000532.5(PCCB):c.818A>T (p.Asp273Val)
|
rs765749691
|
0.00006
|
|
NM_000532.5(PCCB):c.966+17T>C
|
rs752703797
|
0.00006
|
|
NM_000554.6(CRX):c.311A>G (p.Gln104Arg)
|
rs769592519
|
0.00006
|
|
NM_000554.6(CRX):c.551C>T (p.Pro184Leu)
|
rs147558800
|
0.00006
|
|
NM_000554.6(CRX):c.590C>T (p.Pro197Leu)
|
rs761290111
|
0.00006
|
|
NM_000687.4(AHCY):c.29-5C>T
|
rs375669228
|
0.00006
|
|
NM_000687.4(AHCY):c.663T>C (p.Tyr221=)
|
rs58020044
|
0.00006
|
|
NM_000709.4(BCKDHA):c.1032G>A (p.Ala344=)
|
rs376446100
|
0.00006
|
|
NM_000709.4(BCKDHA):c.1167+4A>C
|
rs546655391
|
0.00006
|
|
NM_000709.4(BCKDHA):c.606C>T (p.Phe202=)
|
rs370068964
|
0.00006
|
|
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=)
|
rs398123514
|
0.00006
|
|
NM_001010867.4(IBA57):c.162C>T (p.Asp54=)
|
rs762720562
|
0.00006
|
|
NM_001010867.4(IBA57):c.342-14C>T
|
rs368178420
|
0.00006
|
|
NM_001010867.4(IBA57):c.679+3A>G
|
rs754620334
|
0.00006
|
|
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr)
|
rs200319163
|
0.00006
|
|
NM_001024845.3(SLC6A9):c.1424T>C (p.Met475Thr)
|
rs141601886
|
0.00006
|
|
NM_001024845.3(SLC6A9):c.1835C>T (p.Pro612Leu)
|
rs373799403
|
0.00006
|
|
NM_001024845.3(SLC6A9):c.31-6201G>A
|
rs112726936
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.1134T>C (p.Thr378=)
|
rs1258501471
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)
|
rs139719918
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.1285A>T (p.Thr429Ser)
|
rs1283096489
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.1353A>C (p.Thr451=)
|
rs146549665
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)
|
rs372455508
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.652G>A (p.Ala218Thr)
|
rs772998296
|
0.00006
|
|
NM_001080.3(ALDH5A1):c.819del (p.Asp274fs)
|
rs778127154
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=)
|
rs569115027
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)
|
rs372090886
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys)
|
rs368081042
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=)
|
rs761522418
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.294-6C>T
|
rs764502828
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2940C>G (p.Arg980=)
|
rs1188340576
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=)
|
rs370211834
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)
|
rs762288499
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=)
|
rs771567638
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4388+12G>A
|
rs924927963
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=)
|
rs557205300
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=)
|
rs761547761
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)
|
rs368347143
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=)
|
rs16004
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5529-1245T>C
|
rs368791169
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5731+14A>G
|
rs762304728
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5731+14_5731+15del
|
rs775317628
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5940+12G>A
|
rs780841537
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)
|
rs16045
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)
|
rs574805525
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)
|
rs1033214914
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.831C>T (p.Pro277=)
|
rs568635317
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=)
|
rs17846910
|
0.00006
|
|
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=)
|
rs746564011
|
0.00006
|
|
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=)
|
rs560101290
|
0.00006
|
|
NM_001243279.3(ACSF3):c.720C>T (p.His240=)
|
rs778493922
|
0.00006
|
|
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn)
|
rs774006607
|
0.00006
|
|
NM_001258392.3(CLPB):c.1140C>T (p.Asp380=)
|
rs200950385
|
0.00006
|
|
NM_001258392.3(CLPB):c.1146C>T (p.Ser382=)
|
rs377372785
|
0.00006
|
|
NM_001258392.3(CLPB):c.1247G>T (p.Cys416Phe)
|
rs559592563
|
0.00006
|
|
NM_001258392.3(CLPB):c.1743C>T (p.Asp581=)
|
rs147296630
|
0.00006
|
|
NM_001258392.3(CLPB):c.1866G>A (p.Thr622=)
|
rs140281600
|
0.00006
|
|
NM_001258392.3(CLPB):c.1978C>T (p.Arg660Cys)
|
rs140963713
|
0.00006
|
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
|
NM_001271.4(CHD2):c.1052+11C>T
|
rs558895083
|
0.00006
|
|
NM_001271.4(CHD2):c.1233C>T (p.Pro411=)
|
rs202188833
|
0.00006
|
|
NM_001271.4(CHD2):c.1377+13T>C
|
rs375615448
|
0.00006
|
|
NM_001271.4(CHD2):c.153C>T (p.Ser51=)
|
rs201752698
|
0.00006
|
|
NM_001271.4(CHD2):c.180T>G (p.Ser60=)
|
rs747415863
|
0.00006
|
|
NM_001271.4(CHD2):c.261C>G (p.Ala87=)
|
rs367968143
|
0.00006
|
|
NM_001271.4(CHD2):c.2724G>A (p.Lys908=)
|
rs775276311
|
0.00006
|
|
NM_001271.4(CHD2):c.3237+14A>G
|
rs763922777
|
0.00006
|
|
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp)
|
rs755898320
|
0.00006
|
|
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=)
|
rs147115056
|
0.00006
|
|
NM_001271.4(CHD2):c.4814A>C (p.Lys1605Thr)
|
rs780701076
|
0.00006
|
|
NM_001271.4(CHD2):c.4907-15T>A
|
rs372145426
|
0.00006
|
|
NM_001271.4(CHD2):c.4968A>G (p.Pro1656=)
|
rs909107415
|
0.00006
|
|
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn)
|
rs61752830
|
0.00006
|
|
NM_001271.4(CHD2):c.4986C>T (p.His1662=)
|
rs139082993
|
0.00006
|
|
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr)
|
rs746849506
|
0.00006
|
|
NM_001271.4(CHD2):c.551+13C>T
|
rs137954528
|
0.00006
|
|
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala)
|
rs1442904433
|
0.00006
|
|
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
|
rs1381374225
|
0.00006
|
|
NM_001271.4(CHD2):c.826+14G>A
|
rs189583903
|
0.00006
|
|
NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln)
|
rs142258123
|
0.00006
|
|
NM_001278293.3(ARL6):c.453C>T (p.Asn151=)
|
rs947207333
|
0.00006
|
|
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)
|
rs73196003
|
0.00006
|
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
|
NM_001352514.2(HLCS):c.1686C>G (p.Ser562=)
|
rs141905941
|
0.00006
|
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
|
NM_001352514.2(HLCS):c.2450+7G>C
|
rs373944714
|
0.00006
|
|
NM_001352514.2(HLCS):c.689G>A (p.Ser230Asn)
|
rs761147008
|
0.00006
|
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
|
NM_001370658.1(BTD):c.1528C>G (p.Leu510Val)
|
rs201852672
|
0.00006
|
|
NM_001370658.1(BTD):c.522C>T (p.Phe174=)
|
rs750363004
|
0.00006
|
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
|
NM_001482.3(GATM):c.277A>G (p.Ile93Val)
|
rs34991226
|
0.00006
|
|
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
|
rs150034487
|
0.00006
|
|
NM_001609.4(ACADSB):c.757T>C (p.Leu253=)
|
rs776888756
|
0.00006
|
|
NM_001698.3(AUH):c.1004G>A (p.Arg335His)
|
rs529693736
|
0.00006
|
|
NM_001698.3(AUH):c.656-8C>T
|
rs199879150
|
0.00006
|
|
NM_001698.3(AUH):c.720G>A (p.Ala240=)
|
rs780040124
|
0.00006
|
|
NM_001698.3(AUH):c.843+13A>G
|
rs747375365
|
0.00006
|
|
NM_001739.2(CA5A):c.253G>T (p.Val85Phe)
|
rs138938647
|
0.00006
|
|
NM_001739.2(CA5A):c.267G>A (p.Ala89=)
|
rs377436710
|
0.00006
|
|
NM_001739.2(CA5A):c.450C>T (p.Tyr150=)
|
rs368084033
|
0.00006
|
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00006
|
|
NM_001739.2(CA5A):c.720C>A (p.Thr240=)
|
rs547918689
|
0.00006
|
|
NM_001739.2(CA5A):c.763G>A (p.Ala255Thr)
|
rs756854770
|
0.00006
|
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
|
NM_001875.5(CPS1):c.2392-9G>A
|
rs374695266
|
0.00006
|
|
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)
|
rs142818109
|
0.00006
|
|
NM_001875.5(CPS1):c.2745G>A (p.Lys915=)
|
rs143659334
|
0.00006
|
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
|
NM_001875.5(CPS1):c.3219C>G (p.Val1073=)
|
rs374964409
|
0.00006
|
|
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)
|
rs148570490
|
0.00006
|
|
NM_001875.5(CPS1):c.3408G>A (p.Gly1136=)
|
rs147776702
|
0.00006
|
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
|
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=)
|
rs141982972
|
0.00006
|
|
NM_001875.5(CPS1):c.636C>T (p.Tyr212=)
|
rs138724401
|
0.00006
|
|
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)
|
rs761229343
|
0.00006
|
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
|
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val)
|
rs753866589
|
0.00006
|
|
NM_001876.4(CPT1A):c.1539G>A (p.Pro513=)
|
rs371923903
|
0.00006
|
|
NM_001876.4(CPT1A):c.1845C>T (p.Phe615=)
|
rs144747588
|
0.00006
|
|
NM_001876.4(CPT1A):c.1850G>A (p.Arg617Gln)
|
rs375224809
|
0.00006
|
|
NM_001876.4(CPT1A):c.2178T>C (p.Leu726=)
|
rs200501379
|
0.00006
|
|
NM_001876.4(CPT1A):c.2244T>C (p.His748=)
|
rs746766870
|
0.00006
|
|
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu)
|
rs201425412
|
0.00006
|
|
NM_001918.5(DBT):c.1127G>A (p.Arg376His)
|
rs150934375
|
0.00006
|
|
NM_001918.5(DBT):c.1281+5A>G
|
rs199571242
|
0.00006
|
|
NM_001918.5(DBT):c.733C>A (p.Pro245Thr)
|
rs200339376
|
0.00006
|
|
NM_001918.5(DBT):c.90T>C (p.His30=)
|
rs377306925
|
0.00006
|
|
NM_001918.5(DBT):c.9A>G (p.Ala3=)
|
rs772869478
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1029+13G>A
|
rs374272155
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1030-10C>A
|
rs571276508
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=)
|
rs199643016
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1264+18G>A
|
rs748993770
|
0.00006
|
|
NM_001958.5(EEF1A2):c.1265-13C>A
|
rs1163487010
|
0.00006
|
|
NM_001958.5(EEF1A2):c.145-16C>T
|
rs369022379
|
0.00006
|
|
NM_001958.5(EEF1A2):c.145-8C>T
|
rs554786640
|
0.00006
|
|
NM_001958.5(EEF1A2):c.219C>T (p.Ile73=)
|
rs371263699
|
0.00006
|
|
NM_001958.5(EEF1A2):c.345C>T (p.Ile115=)
|
rs138846735
|
0.00006
|
|
NM_001958.5(EEF1A2):c.561C>T (p.Thr187=)
|
rs376891760
|
0.00006
|
|
NM_001958.5(EEF1A2):c.726G>A (p.Thr242=)
|
rs1005974432
|
0.00006
|
|
NM_001958.5(EEF1A2):c.999G>A (p.Pro333=)
|
rs760721599
|
0.00006
|
|
NM_001985.3(ETFB):c.118C>A (p.Pro40Thr)
|
rs772322071
|
0.00006
|
|
NM_001985.3(ETFB):c.184A>G (p.Ile62Val)
|
rs199705168
|
0.00006
|
|
NM_001985.3(ETFB):c.706G>A (p.Gly236Ser)
|
rs375326450
|
0.00006
|
|
NM_001985.3(ETFB):c.708C>T (p.Gly236=)
|
rs749837573
|
0.00006
|
|
NM_001985.3(ETFB):c.81C>T (p.Thr27=)
|
rs374819445
|
0.00006
|
|
NM_002150.3(HPD):c.760-7C>T
|
rs748133768
|
0.00006
|
|
NM_002225.5(IVD):c.234+13G>A
|
rs762088213
|
0.00006
|
|
NM_002225.5(IVD):c.286+8T>C
|
rs769702849
|
0.00006
|
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
|
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)
|
rs769915505
|
0.00006
|
|
NM_002454.3(MTRR):c.1370+18C>T
|
rs374485961
|
0.00006
|
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
|
NM_002454.3(MTRR):c.383A>G (p.His128Arg)
|
rs185235284
|
0.00006
|
|
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)
|
rs375421492
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1467+16G>A
|
rs371225175
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1568C>T (p.Ala523Val)
|
rs529294368
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1596C>T (p.Ala532=)
|
rs200730342
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1631A>G (p.Asp544Gly)
|
rs372744264
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.1867G>A (p.Asp623Asn)
|
rs770815414
|
0.00006
|
|
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly)
|
rs143874727
|
0.00006
|
|
NM_003042.4(SLC6A1):c.1436G>A (p.Arg479Gln)
|
rs771439149
|
0.00006
|
|
NM_003042.4(SLC6A1):c.371-9C>T
|
rs368461369
|
0.00006
|
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
|
NM_003042.4(SLC6A1):c.891G>A (p.Gly297=)
|
rs151039956
|
0.00006
|
|
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu)
|
rs144547521
|
0.00006
|
|
NM_003060.4(SLC22A5):c.570G>A (p.Ser190=)
|
rs561032476
|
0.00006
|
|
NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln)
|
rs148989838
|
0.00006
|
|
NM_003748.4(ALDH4A1):c.1082G>C (p.Trp361Ser)
|
rs763793413
|
0.00006
|
|
NM_003748.4(ALDH4A1):c.178C>T (p.Arg60Trp)
|
rs139447728
|
0.00006
|
|
NM_003748.4(ALDH4A1):c.67C>T (p.Arg23Trp)
|
rs778225599
|
0.00006
|
|
NM_003982.4(SLC7A7):c.1170G>C (p.Trp390Cys)
|
rs370847983
|
0.00006
|
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
|
NM_003982.4(SLC7A7):c.1425C>T (p.Ile475=)
|
rs373156106
|
0.00006
|
|
NM_004408.4(DNM1):c.1350G>T (p.Pro450=)
|
rs147897973
|
0.00006
|
|
NM_004408.4(DNM1):c.725T>C (p.Ile242Thr)
|
rs138357499
|
0.00006
|
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
|
NM_004408.4(DNM1):c.849+7G>A
|
rs779667787
|
0.00006
|
|
NM_004408.4(DNM1):c.992+13C>A
|
rs762733307
|
0.00006
|
|
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr)
|
rs1131691336
|
0.00006
|
|
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu)
|
rs398124152
|
0.00006
|
|
NM_004453.4(ETFDH):c.1690+20C>T
|
rs376588328
|
0.00006
|
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
|
NM_004453.4(ETFDH):c.846T>C (p.Asp282=)
|
rs371927583
|
0.00006
|
|
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
|
rs770579929
|
0.00006
|
|
NM_004937.3(CTNS):c.29T>C (p.Ile10Thr)
|
rs754092691
|
0.00006
|
|
NM_004937.3(CTNS):c.368T>G (p.Ile123Ser)
|
rs200313254
|
0.00006
|
|
NM_004937.3(CTNS):c.487G>A (p.Val163Met)
|
rs200818208
|
0.00006
|
|
NM_004937.3(CTNS):c.648G>A (p.Thr216=)
|
rs772591288
|
0.00006
|
|
NM_004937.3(CTNS):c.830C>T (p.Thr277Met)
|
rs757009591
|
0.00006
|
|
NM_004974.4(KCNA2):c.1146G>A (p.Pro382=)
|
rs370714935
|
0.00006
|
|
NM_004974.4(KCNA2):c.292T>C (p.Leu98=)
|
rs369845519
|
0.00006
|
|
NM_004974.4(KCNA2):c.35C>T (p.Ala12Val)
|
rs372822052
|
0.00006
|
|
NM_004975.4(KCNB1):c.1655C>T (p.Ala552Val)
|
rs370974891
|
0.00006
|
|
NM_004975.4(KCNB1):c.1905T>C (p.Gly635=)
|
rs117166054
|
0.00006
|
|
NM_004975.4(KCNB1):c.2375C>T (p.Ser792Leu)
|
rs777053418
|
0.00006
|
|
NM_004975.4(KCNB1):c.2521G>A (p.Val841Ile)
|
rs542708318
|
0.00006
|
|
NM_004975.4(KCNB1):c.546C>T (p.Pro182=)
|
rs373223027
|
0.00006
|
|
NM_005050.4(ABCD4):c.1518G>A (p.Val506=)
|
rs372838114
|
0.00006
|
|
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)
|
rs776137988
|
0.00006
|
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+13C>T
|
rs368179780
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
|
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=)
|
rs782207714
|
0.00006
|
|
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)
|
rs372071273
|
0.00006
|
|
NM_005518.4(HMGCS2):c.1016+1G>A
|
rs771607178
|
0.00006
|
|
NM_005518.4(HMGCS2):c.1420+13T>C
|
rs771878586
|
0.00006
|
|
NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn)
|
rs368014391
|
0.00006
|
|
NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln)
|
rs371306326
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr)
|
rs781962672
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=)
|
rs369716393
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=)
|
rs1411836045
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=)
|
rs782416756
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1254+6C>T
|
rs782764159
|
0.00006
|
|
NM_005629.4(SLC6A8):c.126A>G (p.Thr42=)
|
rs1557043825
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1496-17G>A
|
rs375265267
|
0.00006
|
|
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys)
|
rs782488606
|
0.00006
|
|
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val)
|
rs1198790754
|
0.00006
|
|
NM_005629.4(SLC6A8):c.831G>A (p.Val277=)
|
rs149357346
|
0.00006
|
|
NM_005881.4(BCKDK):c.373G>A (p.Val125Met)
|
rs141282419
|
0.00006
|
|
NM_005881.4(BCKDK):c.556G>A (p.Val186Ile)
|
rs188092823
|
0.00006
|
|
NM_005957.5(MTHFR):c.1146C>T (p.Asp382=)
|
rs761540678
|
0.00006
|
|
NM_005957.5(MTHFR):c.853G>A (p.Glu285Lys)
|
rs372258648
|
0.00006
|
|
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg)
|
rs145344767
|
0.00006
|
|
NM_006623.4(PHGDH):c.1467C>T (p.Gly489=)
|
rs754658401
|
0.00006
|
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
|
NM_006623.4(PHGDH):c.1515C>G (p.Thr505=)
|
rs201529203
|
0.00006
|
|
NM_006623.4(PHGDH):c.375G>A (p.Thr125=)
|
rs754365384
|
0.00006
|
|
NM_006623.4(PHGDH):c.510+14G>A
|
rs763333293
|
0.00006
|
|
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys)
|
rs147066269
|
0.00006
|
|
NM_006623.4(PHGDH):c.739C>T (p.Arg247Trp)
|
rs768347730
|
0.00006
|
|
NM_006623.4(PHGDH):c.809G>A (p.Arg270Gln)
|
rs375031910
|
0.00006
|
|
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)
|
rs199942447
|
0.00006
|
|
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)
|
rs146513468
|
0.00006
|
|
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)
|
rs369125654
|
0.00006
|
|
NM_006859.4(LIAS):c.999A>G (p.Lys333=)
|
rs372877643
|
0.00006
|
|
NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn)
|
rs376504760
|
0.00006
|
|
NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp)
|
rs530627828
|
0.00006
|
|
NM_012213.3(MLYCD):c.1295G>A (p.Arg432His)
|
rs201973830
|
0.00006
|
|
NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys)
|
rs201780465
|
0.00006
|
|
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu)
|
rs199656023
|
0.00006
|
|
NM_012213.3(MLYCD):c.939G>A (p.Lys313=)
|
rs1014990867
|
0.00006
|
|
NM_012213.3(MLYCD):c.948+11C>T
|
rs568952897
|
0.00006
|
|
NM_014251.3(SLC25A13):c.1751-24T>C
|
rs375555060
|
0.00006
|
|
NM_014251.3(SLC25A13):c.1751-4_1751-3insT
|
rs765170811
|
0.00006
|
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
|
NM_014251.3(SLC25A13):c.534C>T (p.Val178=)
|
rs776288888
|
0.00006
|
|
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile)
|
rs531991442
|
0.00006
|
|
NM_014252.4(SLC25A15):c.324G>A (p.Gln108=)
|
rs756644906
|
0.00006
|
|
NM_014252.4(SLC25A15):c.380C>T (p.Thr127Met)
|
rs201902280
|
0.00006
|
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
0.00006
|
|
NM_014362.4(HIBCH):c.312G>A (p.Ser104=)
|
rs201502204
|
0.00006
|
|
NM_014362.4(HIBCH):c.35+10A>C
|
rs747167987
|
0.00006
|
|
NM_014384.3(ACAD8):c.1154A>G (p.Gln385Arg)
|
rs367996531
|
0.00006
|
|
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr)
|
rs367857040
|
0.00006
|
|
NM_014384.3(ACAD8):c.557A>G (p.Asn186Ser)
|
rs200170162
|
0.00006
|
|
NM_014384.3(ACAD8):c.846C>G (p.Ser282=)
|
rs200330956
|
0.00006
|
|
NM_014384.3(ACAD8):c.985G>A (p.Ala329Thr)
|
rs751260935
|
0.00006
|
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
|
NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala)
|
rs973563199
|
0.00006
|
|
NM_015509.4(NECAP1):c.489C>T (p.Ile163=)
|
rs773465096
|
0.00006
|
|
NM_015509.4(NECAP1):c.56T>C (p.Val19Ala)
|
rs780390533
|
0.00006
|
|
NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg)
|
rs765855460
|
0.00006
|
|
NM_015662.3(IFT172):c.1006-10C>T
|
rs545781319
|
0.00006
|
|
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly)
|
rs61740250
|
0.00006
|
|
NM_015662.3(IFT172):c.1932G>A (p.Ala644=)
|
rs374357498
|
0.00006
|
|
NM_015662.3(IFT172):c.2522C>T (p.Ala841Val)
|
rs762431558
|
0.00006
|
|
NM_015662.3(IFT172):c.3530+12C>G
|
rs755760582
|
0.00006
|
|
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=)
|
rs377211687
|
0.00006
|
|
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu)
|
rs199502476
|
0.00006
|
|
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr)
|
rs377646246
|
0.00006
|
|
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg)
|
rs146047876
|
0.00006
|
|
NM_015662.3(IFT172):c.442A>G (p.Ile148Val)
|
rs759861487
|
0.00006
|
|
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)
|
rs370903625
|
0.00006
|
|
NM_015662.3(IFT172):c.915A>G (p.Thr305=)
|
rs180855666
|
0.00006
|
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
|
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
|
NM_016335.6(PRODH):c.1093G>A (p.Val365Ile)
|
rs768237039
|
0.00006
|
|
NM_016335.6(PRODH):c.1295G>A (p.Arg432His)
|
rs143011525
|
0.00006
|
|
NM_016335.6(PRODH):c.456C>T (p.Pro152=)
|
rs747609336
|
0.00006
|
|
NM_016579.4(CD320):c.143-4G>A
|
rs371174438
|
0.00006
|
|
NM_016579.4(CD320):c.588C>G (p.Ala196=)
|
rs776070970
|
0.00006
|
|
NM_016579.4(CD320):c.761G>A (p.Arg254Gln)
|
rs369347295
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=)
|
rs761693513
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
|
NM_018368.4(LMBRD1):c.637-13G>A
|
rs776621535
|
0.00006
|
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
|
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)
|
rs753355529
|
0.00006
|
|
NM_018706.7(DHTKD1):c.1078G>A (p.Val360Met)
|
rs755976465
|
0.00006
|
|
NM_018706.7(DHTKD1):c.1246C>T (p.Gln416Ter)
|
rs200722918
|
0.00006
|
|
NM_018706.7(DHTKD1):c.1594C>T (p.Arg532Trp)
|
rs781243504
|
0.00006
|
|
NM_018706.7(DHTKD1):c.1720G>A (p.Ala574Thr)
|
rs200095700
|
0.00006
|
|
NM_018706.7(DHTKD1):c.2454A>G (p.Lys818=)
|
rs544154603
|
0.00006
|
|
NM_018706.7(DHTKD1):c.2659-3T>C
|
rs367606155
|
0.00006
|
|
NM_018706.7(DHTKD1):c.717+12C>T
|
rs548903016
|
0.00006
|
|
NM_018706.7(DHTKD1):c.71A>G (p.Tyr24Cys)
|
rs895237537
|
0.00006
|
|
NM_018706.7(DHTKD1):c.863C>T (p.Ser288Leu)
|
rs201310721
|
0.00006
|
|
NM_018706.7(DHTKD1):c.923G>A (p.Arg308His)
|
rs17849603
|
0.00006
|
|
NM_018706.7(DHTKD1):c.987+20T>C
|
rs774186618
|
0.00006
|
|
NM_020166.5(MCCC1):c.1083+10T>A
|
rs374971501
|
0.00006
|
|
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
|
rs146689034
|
0.00006
|
|
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr)
|
rs371795972
|
0.00006
|
|
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=)
|
rs768167603
|
0.00006
|
|
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
|
rs750602906
|
0.00006
|
|
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met)
|
rs762639338
|
0.00006
|
|
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
|
rs200651846
|
0.00006
|
|
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
|
rs139091481
|
0.00006
|
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
|
NM_020686.6(ABAT):c.1202G>A (p.Arg401Gln)
|
rs187929750
|
0.00006
|
|
NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln)
|
rs368127499
|
0.00006
|
|
NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu)
|
rs746205242
|
0.00006
|
|
NM_020686.6(ABAT):c.190A>G (p.Ile64Val)
|
rs756209600
|
0.00006
|
|
NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)
|
rs201701679
|
0.00006
|
|
NM_020686.6(ABAT):c.367-3C>T
|
rs367740820
|
0.00006
|
|
NM_020686.6(ABAT):c.419T>C (p.Val140Ala)
|
rs886052429
|
0.00006
|
|
NM_020686.6(ABAT):c.541-9T>C
|
rs774934344
|
0.00006
|
|
NM_020686.6(ABAT):c.816+19G>A
|
rs147226856
|
0.00006
|
|
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=)
|
rs373146322
|
0.00006
|
|
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=)
|
rs548725229
|
0.00006
|
|
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=)
|
rs779855532
|
0.00006
|
|
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
|
rs367635502
|
0.00006
|
|
NM_025136.4(OPA3):c.428C>T (p.Ala143Val)
|
rs553598004
|
0.00006
|
|
NM_030813.6(CLPB):c.670C>T (p.Arg224Trp)
|
rs149056885
|
0.00006
|
|
NM_030813.6(CLPB):c.735C>T (p.Gly245=)
|
rs201151763
|
0.00006
|
|
NM_032601.4(MCEE):c.375C>T (p.Ile125=)
|
rs748574475
|
0.00006
|
|
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
|
rs537530231
|
0.00006
|
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
|
NM_054012.4(ASS1):c.1047G>T (p.Val349=)
|
rs376502913
|
0.00006
|
|
NM_054012.4(ASS1):c.1211G>A (p.Arg404His)
|
rs752612525
|
0.00006
|
|
NM_054012.4(ASS1):c.295G>A (p.Ala99Thr)
|
rs150466363
|
0.00006
|
|
NM_054012.4(ASS1):c.458G>A (p.Arg153Gln)
|
rs373239430
|
0.00006
|
|
NM_054012.4(ASS1):c.470G>A (p.Arg157His)
|
rs121908637
|
0.00006
|
|
NM_058179.4(PSAT1):c.793G>A (p.Ala265Thr)
|
rs764335664
|
0.00006
|
|
NM_145261.4(DNAJC19):c.210-7T>A
|
rs779367415
|
0.00006
|
|
NM_145261.4(DNAJC19):c.280+5G>C
|
rs762722601
|
0.00006
|
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
|
NM_152419.3(HGSNAT):c.1542+18C>T
|
rs1013624277
|
0.00006
|
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
|
NM_152419.3(HGSNAT):c.633+20G>C
|
rs144188129
|
0.00006
|
|
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
|
rs754275273
|
0.00006
|
|
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
|
rs777641646
|
0.00006
|
|
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)
|
rs564435701
|
0.00006
|
|
NM_152542.5(PPM1K):c.145C>T (p.Arg49Trp)
|
rs758727668
|
0.00006
|
|
NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys)
|
rs372205324
|
0.00006
|
|
NM_153006.3(NAGS):c.290C>T (p.Ser97Leu)
|
rs746624443
|
0.00006
|
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
|
NM_177550.5(SLC13A5):c.1055+16A>C
|
rs756534283
|
0.00006
|
|
NM_177550.5(SLC13A5):c.1068T>C (p.Asp356=)
|
rs369080598
|
0.00006
|
|
NM_177550.5(SLC13A5):c.1138C>T (p.Arg380Cys)
|
rs377270604
|
0.00006
|
|
NM_177550.5(SLC13A5):c.277G>A (p.Gly93Ser)
|
rs201070023
|
0.00006
|
|
NM_177550.5(SLC13A5):c.547+8C>T
|
rs1270343571
|
0.00006
|
|
NM_177550.5(SLC13A5):c.548-17C>T
|
rs761273591
|
0.00006
|
|
NM_177550.5(SLC13A5):c.663C>T (p.Thr221=)
|
rs373831482
|
0.00006
|
|
NM_177550.5(SLC13A5):c.714C>T (p.Asn238=)
|
rs754553205
|
0.00006
|
|
NM_177550.5(SLC13A5):c.752C>T (p.Ala251Val)
|
rs150517372
|
0.00006
|
|
NM_183050.4(BCKDHB):c.197-11del
|
rs200609312
|
0.00006
|
|
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)
|
rs371518124
|
0.00006
|
|
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)
|
rs771549675
|
0.00006
|
|
NM_201253.3(CRB1):c.1172-15T>A
|
rs375141011
|
0.00006
|
|
NM_201253.3(CRB1):c.1172-20C>T
|
rs768396277
|
0.00006
|
|
NM_201253.3(CRB1):c.1182C>T (p.Cys394=)
|
rs115352681
|
0.00006
|
|
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)
|
rs937362854
|
0.00006
|
|
NM_201253.3(CRB1):c.156T>C (p.Asn52=)
|
rs143046320
|
0.00006
|
|
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)
|
rs550119977
|
0.00006
|
|
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)
|
rs138936375
|
0.00006
|
|
NM_201253.3(CRB1):c.2796G>A (p.Pro932=)
|
rs139127915
|
0.00006
|
|
NM_201253.3(CRB1):c.2826G>T (p.Val942=)
|
rs781176401
|
0.00006
|
|
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)
|
rs764256655
|
0.00006
|
|
NM_205861.3(DHDDS):c.312G>A (p.Leu104=)
|
rs146693904
|
0.00006
|
|
NM_205861.3(DHDDS):c.480T>C (p.His160=)
|
rs758260694
|
0.00006
|
|
NM_205861.3(DHDDS):c.504G>A (p.Glu168=)
|
rs1251271750
|
0.00006
|
|
NM_205861.3(DHDDS):c.761T>C (p.Leu254Pro)
|
rs755439760
|
0.00006
|
|
NM_000017.4(ACADS):c.1157G>A (p.Arg386His)
|
rs766183395
|
0.00005
|
|
NM_000017.4(ACADS):c.1196G>A (p.Arg399Gln)
|
rs926187308
|
0.00005
|
|
NM_000017.4(ACADS):c.58A>G (p.Arg20Gly)
|
rs745510897
|
0.00005
|
|
NM_000018.4(ACADVL):c.1077+16G>A
|
rs780420241
|
0.00005
|
|
NM_000018.4(ACADVL):c.1078-13G>C
|
rs368366316
|
0.00005
|
|
NM_000018.4(ACADVL):c.1719C>T (p.Ile573=)
|
rs372452333
|
0.00005
|
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
|
NM_000018.4(ACADVL):c.623-18T>C
|
rs777866869
|
0.00005
|
|
NM_000018.4(ACADVL):c.752+7T>C
|
rs753057653
|
0.00005
|
|
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)
|
rs765423779
|
0.00005
|
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
|
NM_000018.4(ACADVL):c.954A>G (p.Pro318=)
|
rs137919558
|
0.00005
|
|
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
|
rs200729208
|
0.00005
|
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
|
NM_000019.4(ACAT1):c.607A>C (p.Lys203Gln)
|
rs200498630
|
0.00005
|
|
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)
|
rs75953451
|
0.00005
|
|
NM_000026.4(ADSL):c.1102-18C>G
|
rs764157832
|
0.00005
|
|
NM_000026.4(ADSL):c.1192-5C>T
|
rs563441974
|
0.00005
|
|
NM_000026.4(ADSL):c.1200T>C (p.His400=)
|
rs751401941
|
0.00005
|
|
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)
|
rs373458753
|
0.00005
|
|
NM_000045.4(ARG1):c.309G>A (p.Leu103=)
|
rs749043086
|
0.00005
|
|
NM_000048.4(ASL):c.1263G>A (p.Ser421=)
|
rs542163407
|
0.00005
|
|
NM_000048.4(ASL):c.393G>A (p.Thr131=)
|
rs147273133
|
0.00005
|
|
NM_000048.4(ASL):c.447-20C>T
|
rs370515460
|
0.00005
|
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
|
NM_000048.4(ASL):c.609C>A (p.Ala203=)
|
rs139105263
|
0.00005
|
|
NM_000048.4(ASL):c.75C>T (p.Asn25=)
|
rs370260834
|
0.00005
|
|
NM_000048.4(ASL):c.90C>T (p.Tyr30=)
|
rs751062108
|
0.00005
|
|
NM_000048.4(ASL):c.933G>A (p.Leu311=)
|
rs550097103
|
0.00005
|
|
NM_000071.3(CBS):c.1074G>A (p.Val358=)
|
rs570135008
|
0.00005
|
|
NM_000071.3(CBS):c.1468-6T>G
|
rs771250766
|
0.00005
|
|
NM_000071.3(CBS):c.1494G>A (p.Arg498=)
|
rs778800147
|
0.00005
|
|
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)
|
rs201916339
|
0.00005
|
|
NM_000071.3(CBS):c.663C>T (p.Asp221=)
|
rs753964840
|
0.00005
|
|
NM_000071.3(CBS):c.774C>T (p.Gly258=)
|
rs764925747
|
0.00005
|
|
NM_000071.3(CBS):c.953C>T (p.Thr318Met)
|
rs769541394
|
0.00005
|
|
NM_000108.5(DLD):c.807G>T (p.Gly269=)
|
rs912822748
|
0.00005
|
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
|
NM_000126.4(ETFA):c.451+14G>A
|
rs557684539
|
0.00005
|
|
NM_000137.4(FAH):c.1026G>A (p.Pro342=)
|
rs748360797
|
0.00005
|
|
NM_000156.6(GAMT):c.331A>C (p.Ile111Leu)
|
rs201833033
|
0.00005
|
|
NM_000156.6(GAMT):c.511C>G (p.Leu171Val)
|
rs770110177
|
0.00005
|
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
|
NM_000156.6(GAMT):c.651G>A (p.Pro217=)
|
rs745327521
|
0.00005
|
|
NM_000159.4(GCDH):c.1092C>T (p.Pro364=)
|
rs146363703
|
0.00005
|
|
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr)
|
rs201509112
|
0.00005
|
|
NM_000159.4(GCDH):c.335-14C>T
|
rs781650833
|
0.00005
|
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
|
NM_000161.3(GCH1):c.543T>G (p.Val181=)
|
rs765670568
|
0.00005
|
|
NM_000170.3(GLDC):c.1067C>G (p.Thr356Ser)
|
rs376612483
|
0.00005
|
|
NM_000170.3(GLDC):c.1143C>A (p.Ile381=)
|
rs755376052
|
0.00005
|
|
NM_000170.3(GLDC):c.1149A>G (p.Thr383=)
|
rs146499591
|
0.00005
|
|
NM_000170.3(GLDC):c.135C>T (p.Ala45=)
|
rs747904179
|
0.00005
|
|
NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)
|
rs201890453
|
0.00005
|
|
NM_000170.3(GLDC):c.1650C>T (p.His550=)
|
rs566134371
|
0.00005
|
|
NM_000170.3(GLDC):c.1767A>G (p.Gln589=)
|
rs372596473
|
0.00005
|
|
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
|
rs141875337
|
0.00005
|
|
NM_000170.3(GLDC):c.1926G>A (p.Thr642=)
|
rs772101467
|
0.00005
|
|
NM_000170.3(GLDC):c.2073C>T (p.Asn691=)
|
rs140352381
|
0.00005
|
|
NM_000170.3(GLDC):c.2181C>T (p.Asp727=)
|
rs192045547
|
0.00005
|
|
NM_000170.3(GLDC):c.2202+20G>A
|
rs770620676
|
0.00005
|
|
NM_000170.3(GLDC):c.250C>T (p.Leu84=)
|
rs746606221
|
0.00005
|
|
NM_000170.3(GLDC):c.2578G>A (p.Gly860Ser)
|
rs753759723
|
0.00005
|
|
NM_000170.3(GLDC):c.2666-8C>A
|
rs771178748
|
0.00005
|
|
NM_000170.3(GLDC):c.270G>C (p.Leu90Phe)
|
rs747736821
|
0.00005
|
|
NM_000170.3(GLDC):c.2839-15G>A
|
rs374118017
|
0.00005
|
|
NM_000170.3(GLDC):c.576C>G (p.Ala192=)
|
rs768514155
|
0.00005
|
|
NM_000170.3(GLDC):c.862-13A>G
|
rs541830167
|
0.00005
|
|
NM_000170.3(GLDC):c.886C>A (p.Leu296Ile)
|
rs200413149
|
0.00005
|
|
NM_000182.5(HADHA):c.1752C>T (p.Ala584=)
|
rs761749332
|
0.00005
|
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
|
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys)
|
rs777153382
|
0.00005
|
|
NM_000182.5(HADHA):c.2106C>T (p.Ile702=)
|
rs267599302
|
0.00005
|
|
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg)
|
rs754673524
|
0.00005
|
|
NM_000187.4(HGD):c.396T>A (p.Ala132=)
|
rs768585616
|
0.00005
|
|
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)
|
rs146306707
|
0.00005
|
|
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)
|
rs147752765
|
0.00005
|
|
NM_000191.3(HMGCL):c.561+8C>G
|
rs372648949
|
0.00005
|
|
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)
|
rs911190800
|
0.00005
|
|
NM_000240.4(MAOA):c.1262+19G>A
|
rs377168294
|
0.00005
|
|
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser)
|
rs147670189
|
0.00005
|
|
NM_000254.3(MTR):c.2235C>T (p.Gly745=)
|
rs1453742538
|
0.00005
|
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
|
NM_000254.3(MTR):c.3384G>A (p.Ala1128=)
|
rs767454577
|
0.00005
|
|
NM_000254.3(MTR):c.759A>C (p.Pro253=)
|
rs752365220
|
0.00005
|
|
NM_000254.3(MTR):c.764+6T>C
|
rs377357761
|
0.00005
|
|
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)
|
rs121965044
|
0.00005
|
|
NM_000274.4(OAT):c.582C>T (p.Tyr194=)
|
rs754489812
|
0.00005
|
|
NM_000274.4(OAT):c.649C>T (p.Arg217Cys)
|
rs370970194
|
0.00005
|
|
NM_000276.4(OCRL):c.1466+16C>T
|
rs750356239
|
0.00005
|
|
NM_000276.4(OCRL):c.1602G>A (p.Gly534=)
|
rs773214157
|
0.00005
|
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
|
NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)
|
rs376280495
|
0.00005
|
|
NM_000276.4(OCRL):c.2695G>A (p.Glu899Lys)
|
rs749551841
|
0.00005
|
|
NM_000276.4(OCRL):c.39+8C>T
|
rs1051771435
|
0.00005
|
|
NM_000276.4(OCRL):c.50G>C (p.Gly17Ala)
|
rs768913997
|
0.00005
|
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
|
NM_000277.3(PAH):c.350C>T (p.Thr117Ile)
|
rs281865439
|
0.00005
|
|
NM_000281.4(PCBD1):c.259G>T (p.Glu87Ter)
|
rs104894172
|
0.00005
|
|
NM_000281.4(PCBD1):c.91C>T (p.Arg31Cys)
|
rs11554325
|
0.00005
|
|
NM_000282.4(PCCA):c.1154A>G (p.Lys385Arg)
|
rs192543675
|
0.00005
|
|
NM_000282.4(PCCA):c.945G>A (p.Ala315=)
|
rs373115130
|
0.00005
|
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
|
NM_000317.3(PTS):c.318G>A (p.Thr106=)
|
rs568878711
|
0.00005
|
|
NM_000320.3(QDPR):c.728A>G (p.Tyr243Cys)
|
rs565356844
|
0.00005
|
|
NM_000329.3(RPE65):c.254G>A (p.Arg85His)
|
rs61752870
|
0.00005
|
|
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
|
rs752990312
|
0.00005
|
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
|
NM_000341.4(SLC3A1):c.1137-3T>C
|
rs555017366
|
0.00005
|
|
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr)
|
rs772817732
|
0.00005
|
|
NM_000353.3(TAT):c.408+10A>T
|
rs766194831
|
0.00005
|
|
NM_000360.4(TH):c.1105-13G>A
|
rs535333944
|
0.00005
|
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
|
NM_000360.4(TH):c.1277C>T (p.Thr426Met)
|
rs201330304
|
0.00005
|
|
NM_000360.4(TH):c.192C>T (p.Pro64=)
|
rs767080132
|
0.00005
|
|
NM_000360.4(TH):c.19A>C (p.Thr7Pro)
|
rs768150949
|
0.00005
|
|
NM_000360.4(TH):c.297T>C (p.Ala99=)
|
rs1002356459
|
0.00005
|
|
NM_000360.4(TH):c.398G>A (p.Arg133His)
|
rs376881948
|
0.00005
|
|
NM_000360.4(TH):c.549C>T (p.Phe183=)
|
rs756278325
|
0.00005
|
|
NM_000360.4(TH):c.678C>T (p.Ala226=)
|
rs139619260
|
0.00005
|
|
NM_000360.4(TH):c.71A>G (p.Lys24Arg)
|
rs768206231
|
0.00005
|
|
NM_000360.4(TH):c.90+23G>A
|
rs551036568
|
0.00005
|
|
NM_000360.4(TH):c.91-867G>A
|
rs1799833
|
0.00005
|
|
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)
|
rs778220325
|
0.00005
|
|
NM_000481.4(AMT):c.231G>A (p.Ser77=)
|
rs779002947
|
0.00005
|
|
NM_000481.4(AMT):c.436G>A (p.Ala146Thr)
|
rs570868528
|
0.00005
|
|
NM_000481.4(AMT):c.91-8G>A
|
rs375632843
|
0.00005
|
|
NM_000531.6(OTC):c.1005+11A>T
|
rs375524303
|
0.00005
|
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
|
NM_000531.6(OTC):c.372C>T (p.Leu124=)
|
rs201070935
|
0.00005
|
|
NM_000531.6(OTC):c.621C>T (p.Ser207=)
|
rs72558415
|
0.00005
|
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
|
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile)
|
rs145135400
|
0.00005
|
|
NM_000532.5(PCCB):c.544-10G>A
|
rs759150582
|
0.00005
|
|
NM_000532.5(PCCB):c.642G>A (p.Thr214=)
|
rs148056730
|
0.00005
|
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
|
NM_000554.6(CRX):c.101-6C>T
|
rs781316943
|
0.00005
|
|
NM_000554.6(CRX):c.276T>G (p.Ala92=)
|
rs536401910
|
0.00005
|
|
NM_000554.6(CRX):c.344G>A (p.Arg115Gln)
|
rs750727986
|
0.00005
|
|
NM_000554.6(CRX):c.369G>A (p.Thr123=)
|
rs368752695
|
0.00005
|
|
NM_000554.6(CRX):c.552G>A (p.Pro184=)
|
rs779118593
|
0.00005
|
|
NM_000554.6(CRX):c.606C>T (p.Cys202=)
|
rs764877352
|
0.00005
|
|
NM_000554.6(CRX):c.774T>C (p.Tyr258=)
|
rs767273026
|
0.00005
|
|
NM_000709.4(BCKDHA):c.1020C>T (p.Asp340=)
|
rs548045051
|
0.00005
|
|
NM_000709.4(BCKDHA):c.1093C>T (p.Arg365Trp)
|
rs1218567341
|
0.00005
|
|
NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe)
|
rs557058340
|
0.00005
|
|
NM_000709.4(BCKDHA):c.174G>A (p.Ser58=)
|
rs576803251
|
0.00005
|
|
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)
|
rs765309844
|
0.00005
|
|
NM_001002755.4(NFU1):c.545+4C>T
|
rs371601286
|
0.00005
|
|
NM_001010867.4(IBA57):c.894G>A (p.Thr298=)
|
rs142711871
|
0.00005
|
|
NM_001024845.3(SLC6A9):c.116C>T (p.Thr39Met)
|
rs200545935
|
0.00005
|
|
NM_001024845.3(SLC6A9):c.120C>T (p.Ser40=)
|
rs571004944
|
0.00005
|
|
NM_001024845.3(SLC6A9):c.489C>G (p.Ser163=)
|
rs763497489
|
0.00005
|
|
NM_001024845.3(SLC6A9):c.753C>T (p.Tyr251=)
|
rs201597633
|
0.00005
|
|
NM_001024845.3(SLC6A9):c.859-16C>T
|
rs371880142
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.1169A>G (p.Glu390Gly)
|
rs142677472
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.1381G>A (p.Ala461Thr)
|
rs768957232
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.1412A>C (p.Tyr471Ser)
|
rs71555150
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.155C>A (p.Ala52Glu)
|
rs1470894211
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)
|
rs374908367
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.354+13G>C
|
rs779886253
|
0.00005
|
|
NM_001080.3(ALDH5A1):c.676G>A (p.Val226Met)
|
rs770884090
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=)
|
rs745876675
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=)
|
rs376451601
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2328G>A (p.Gln776=)
|
rs754796882
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=)
|
rs768719398
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser)
|
rs763054302
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=)
|
rs377466062
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4125C>T (p.Asn1375=)
|
rs767026062
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4591-9C>G
|
rs16032
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)
|
rs374613316
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)
|
rs373678557
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=)
|
rs777316026
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.5931C>T (p.Arg1977=)
|
rs377136737
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.631+15G>A
|
rs372178435
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)
|
rs368183370
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)
|
rs375859889
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=)
|
rs1447103387
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6695G>A (p.Arg2232Gln)
|
rs777894367
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6751G>A (p.Glu2251Lys)
|
rs758625682
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val)
|
rs755099305
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=)
|
rs772730357
|
0.00005
|
|
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=)
|
rs777928520
|
0.00005
|
|
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu)
|
rs780364085
|
0.00005
|
|
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His)
|
rs745633046
|
0.00005
|
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
|
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=)
|
rs368192538
|
0.00005
|
|
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=)
|
rs550622194
|
0.00005
|
|
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys)
|
rs570233664
|
0.00005
|
|
NM_001258392.3(CLPB):c.1362T>A (p.Ile454=)
|
rs547364848
|
0.00005
|
|
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val)
|
rs373383193
|
0.00005
|
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
|
NM_001258392.3(CLPB):c.1698C>T (p.Asn566=)
|
rs199965220
|
0.00005
|
|
NM_001258392.3(CLPB):c.1994G>A (p.Arg665Gln)
|
rs374538248
|
0.00005
|
|
NM_001258392.3(CLPB):c.582C>T (p.Asn194=)
|
rs200063494
|
0.00005
|
|
NM_001258392.3(CLPB):c.651G>C (p.Leu217=)
|
rs375214732
|
0.00005
|
|
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu)
|
rs200120256
|
0.00005
|
|
NM_001271.4(CHD2):c.1719+12A>G
|
rs754059204
|
0.00005
|
|
NM_001271.4(CHD2):c.2562T>C (p.Asn854=)
|
rs1035687846
|
0.00005
|
|
NM_001271.4(CHD2):c.2835C>T (p.Thr945=)
|
rs752124959
|
0.00005
|
|
NM_001271.4(CHD2):c.4482C>T (p.Asn1494=)
|
rs565686460
|
0.00005
|
|
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=)
|
rs138836603
|
0.00005
|
|
NM_001271.4(CHD2):c.5154-19C>T
|
rs777949860
|
0.00005
|
|
NM_001271.4(CHD2):c.5351T>C (p.Val1784Ala)
|
rs776419537
|
0.00005
|
|
NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)
|
rs201618364
|
0.00005
|
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
|
NM_001352514.2(HLCS):c.2622A>G (p.Ter874=)
|
rs375809125
|
0.00005
|
|
NM_001370658.1(BTD):c.1188C>T (p.His396=)
|
rs372039874
|
0.00005
|
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
|
NM_001370658.1(BTD):c.39C>T (p.Cys13=)
|
rs201564216
|
0.00005
|
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
|
NM_001482.3(GATM):c.61G>A (p.Gly21Arg)
|
rs903485357
|
0.00005
|
|
NM_001609.4(ACADSB):c.1128+1G>A
|
rs1564754571
|
0.00005
|
|
NM_001609.4(ACADSB):c.1145C>T (p.Thr382Met)
|
rs772084235
|
0.00005
|
|
NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)
|
rs747291865
|
0.00005
|
|
NM_001609.4(ACADSB):c.603C>G (p.Leu201=)
|
rs368834489
|
0.00005
|
|
NM_001609.4(ACADSB):c.682-20G>A
|
rs142778552
|
0.00005
|
|
NM_001698.3(AUH):c.158G>T (p.Gly53Val)
|
rs747819278
|
0.00005
|
|
NM_001698.3(AUH):c.795C>T (p.Asp265=)
|
rs761573002
|
0.00005
|
|
NM_001698.3(AUH):c.991A>T (p.Lys331Ter)
|
rs387906757
|
0.00005
|
|
NM_001739.2(CA5A):c.438C>T (p.Asp146=)
|
rs143279008
|
0.00005
|
|
NM_001739.2(CA5A):c.446C>T (p.Ala149Val)
|
rs113386477
|
0.00005
|
|
NM_001739.2(CA5A):c.623C>T (p.Ala208Val)
|
rs151220382
|
0.00005
|
|
NM_001739.2(CA5A):c.626G>A (p.Arg209Gln)
|
rs553928413
|
0.00005
|
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
|
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)
|
rs201256385
|
0.00005
|
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
|
NM_001875.5(CPS1):c.2733G>A (p.Gly911=)
|
rs571189660
|
0.00005
|
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
|
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr)
|
rs776047286
|
0.00005
|
|
NM_001876.4(CPT1A):c.1163+1G>A
|
rs148059333
|
0.00005
|
|
NM_001876.4(CPT1A):c.1392C>T (p.Asn464=)
|
rs138700687
|
0.00005
|
|
NM_001876.4(CPT1A):c.1731G>A (p.Ala577=)
|
rs140468410
|
0.00005
|
|
NM_001876.4(CPT1A):c.2142+9G>A
|
rs753764564
|
0.00005
|
|
NM_001876.4(CPT1A):c.327G>A (p.Leu109=)
|
rs1047202617
|
0.00005
|
|
NM_001876.4(CPT1A):c.434G>A (p.Arg145His)
|
rs373015421
|
0.00005
|
|
NM_001876.4(CPT1A):c.633C>T (p.Val211=)
|
rs775908039
|
0.00005
|
|
NM_001918.5(DBT):c.1111G>A (p.Ala371Thr)
|
rs777868718
|
0.00005
|
|
NM_001918.5(DBT):c.291C>T (p.Ser97=)
|
rs201318480
|
0.00005
|
|
NM_001918.5(DBT):c.572T>G (p.Val191Gly)
|
rs146894954
|
0.00005
|
|
NM_001958.5(EEF1A2):c.621+9C>T
|
rs758255976
|
0.00005
|
|
NM_001958.5(EEF1A2):c.675C>T (p.Gly225=)
|
rs749250921
|
0.00005
|
|
NM_001958.5(EEF1A2):c.738G>C (p.Leu246=)
|
rs1333751988
|
0.00005
|
|
NM_001958.5(EEF1A2):c.773-14C>T
|
rs754466423
|
0.00005
|
|
NM_001958.5(EEF1A2):c.773-6C>T
|
rs377166905
|
0.00005
|
|
NM_001958.5(EEF1A2):c.912C>T (p.Pro304=)
|
rs370076840
|
0.00005
|
|
NM_001985.3(ETFB):c.216+7A>G
|
rs910583174
|
0.00005
|
|
NM_001985.3(ETFB):c.582G>A (p.Thr194=)
|
rs376679757
|
0.00005
|
|
NM_002150.3(HPD):c.914C>T (p.Thr305Met)
|
rs200010805
|
0.00005
|
|
NM_002225.5(IVD):c.111T>C (p.Asp37=)
|
rs887220079
|
0.00005
|
|
NM_002225.5(IVD):c.1122C>T (p.Asp374=)
|
rs372504234
|
0.00005
|
|
NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459
|
0.00005
|
|
NM_002225.5(IVD):c.816T>C (p.Gly272=)
|
rs753508865
|
0.00005
|
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
|
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)
|
rs757635349
|
0.00005
|
|
NM_003042.4(SLC6A1):c.1032C>T (p.Phe344=)
|
rs370079283
|
0.00005
|
|
NM_003042.4(SLC6A1):c.1213A>G (p.Ile405Val)
|
rs759515813
|
0.00005
|
|
NM_003042.4(SLC6A1):c.258T>C (p.Tyr86=)
|
rs765030652
|
0.00005
|
|
NM_003042.4(SLC6A1):c.381T>C (p.Leu127=)
|
rs753023286
|
0.00005
|
|
NM_003042.4(SLC6A1):c.715-16C>T
|
rs761013218
|
0.00005
|
|
NM_003060.4(SLC22A5):c.1022G>A (p.Arg341Gln)
|
rs757199947
|
0.00005
|
|
NM_003060.4(SLC22A5):c.1458C>T (p.Tyr486=)
|
rs763224132
|
0.00005
|
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
|
NM_003060.4(SLC22A5):c.844C>T (p.Arg282Ter)
|
rs121908886
|
0.00005
|
|
NM_003060.4(SLC22A5):c.892C>T (p.Arg298Cys)
|
rs755114089
|
0.00005
|
|
NM_003748.4(ALDH4A1):c.1252G>C (p.Gly418Arg)
|
rs148586081
|
0.00005
|
|
NM_003982.4(SLC7A7):c.1406C>T (p.Pro469Leu)
|
rs142739200
|
0.00005
|
|
NM_003982.4(SLC7A7):c.439C>T (p.Leu147Phe)
|
rs146280056
|
0.00005
|
|
NM_003982.4(SLC7A7):c.460C>T (p.Pro154Ser)
|
rs370225997
|
0.00005
|
|
NM_003982.4(SLC7A7):c.476G>A (p.Arg159His)
|
rs756297612
|
0.00005
|
|
NM_003982.4(SLC7A7):c.480G>A (p.Leu160=)
|
rs143867688
|
0.00005
|
|
NM_004408.4(DNM1):c.1422+6C>T
|
rs773817727
|
0.00005
|
|
NM_004408.4(DNM1):c.1422+7C>A
|
rs761674210
|
0.00005
|
|
NM_004408.4(DNM1):c.1893+12G>A
|
rs376700785
|
0.00005
|
|
NM_004408.4(DNM1):c.2226C>T (p.Ile742=)
|
rs760982623
|
0.00005
|
|
NM_004453.4(ETFDH):c.1514T>C (p.Ile505Thr)
|
rs764164607
|
0.00005
|
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
|
NM_004453.4(ETFDH):c.35-15G>A
|
rs529832630
|
0.00005
|
|
NM_004453.4(ETFDH):c.678A>G (p.Ala226=)
|
rs372865586
|
0.00005
|
|
NM_004453.4(ETFDH):c.831+4T>C
|
rs752971257
|
0.00005
|
|
NM_004453.4(ETFDH):c.841A>G (p.Ile281Val)
|
rs761854400
|
0.00005
|
|
NM_004483.5(GCSH):c.84G>A (p.Pro28=)
|
rs775381594
|
0.00005
|
|
NM_004577.4(PSPH):c.346G>A (p.Val116Ile)
|
rs751400364
|
0.00005
|
|
NM_004577.4(PSPH):c.420C>T (p.Asn140=)
|
rs146276460
|
0.00005
|
|
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)
|
rs201153770
|
0.00005
|
|
NM_004937.3(CTNS):c.225+19C>T
|
rs550960394
|
0.00005
|
|
NM_004937.3(CTNS):c.285A>T (p.Gly95=)
|
rs373998956
|
0.00005
|
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
|
NM_004937.3(CTNS):c.600C>T (p.Pro200=)
|
rs577044481
|
0.00005
|
|
NM_004937.3(CTNS):c.628C>T (p.Leu210=)
|
rs531995684
|
0.00005
|
|
NM_004974.4(KCNA2):c.1107C>T (p.Val369=)
|
rs141466713
|
0.00005
|
|
NM_004975.4(KCNB1):c.1705G>A (p.Val569Ile)
|
rs376490656
|
0.00005
|
|
NM_004975.4(KCNB1):c.2249C>T (p.Ala750Val)
|
rs750157634
|
0.00005
|
|
NM_004975.4(KCNB1):c.2250G>A (p.Ala750=)
|
rs368736609
|
0.00005
|
|
NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)
|
rs756982426
|
0.00005
|
|
NM_004975.4(KCNB1):c.39C>T (p.Thr13=)
|
rs775536644
|
0.00005
|
|
NM_004975.4(KCNB1):c.504C>T (p.Cys168=)
|
rs139960830
|
0.00005
|
|
NM_004975.4(KCNB1):c.855C>T (p.Ser285=)
|
rs367938880
|
0.00005
|
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
|
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
0.00005
|
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
|
NM_005327.7(HADH):c.709+18G>A
|
rs369931989
|
0.00005
|
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
|
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)
|
rs200268397
|
0.00005
|
|
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)
|
rs201117046
|
0.00005
|
|
NM_005334.3(HCFC1):c.1606-13G>A
|
rs782300809
|
0.00005
|
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
|
NM_005334.3(HCFC1):c.1804-18C>T
|
rs1057522797
|
0.00005
|
|
NM_005334.3(HCFC1):c.2134-20C>A
|
rs368718262
|
0.00005
|
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
|
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
|
rs782045987
|
0.00005
|
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
0.00005
|
|
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
|
rs781804858
|
0.00005
|
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
|
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)
|
rs782354655
|
0.00005
|
|
NM_005518.4(HMGCS2):c.1289C>T (p.Ala430Val)
|
rs141769037
|
0.00005
|
|
NM_005518.4(HMGCS2):c.502G>A (p.Gly168Ser)
|
rs746217014
|
0.00005
|
|
NM_005518.4(HMGCS2):c.851-19T>C
|
rs373541639
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=)
|
rs782066930
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1506C>T (p.Arg502=)
|
rs782374700
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1597-5C>T
|
rs376073223
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr)
|
rs782790088
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=)
|
rs782244505
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1767+19C>G
|
rs782515219
|
0.00005
|
|
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=)
|
rs782808736
|
0.00005
|
|
NM_005629.4(SLC6A8):c.395-4C>T
|
rs782654694
|
0.00005
|
|
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=)
|
rs201260657
|
0.00005
|
|
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met)
|
rs782208622
|
0.00005
|
|
NM_005629.4(SLC6A8):c.913-14C>T
|
rs368054317
|
0.00005
|
|
NM_005957.5(MTHFR):c.1028C>T (p.Pro343Leu)
|
rs775190420
|
0.00005
|
|
NM_005957.5(MTHFR):c.1378C>T (p.Leu460=)
|
rs200180238
|
0.00005
|
|
NM_005957.5(MTHFR):c.1491C>T (p.Ile497=)
|
rs143480693
|
0.00005
|
|
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=)
|
rs190046545
|
0.00005
|
|
NM_006623.4(PHGDH):c.262G>A (p.Ala88Thr)
|
rs142988234
|
0.00005
|
|
NM_006623.4(PHGDH):c.34A>G (p.Ser12Gly)
|
rs764316050
|
0.00005
|
|
NM_006623.4(PHGDH):c.372G>A (p.Ala124=)
|
rs146740411
|
0.00005
|
|
NM_006623.4(PHGDH):c.549G>A (p.Ser183=)
|
rs776140200
|
0.00005
|
|
NM_006623.4(PHGDH):c.881G>A (p.Arg294His)
|
rs147049991
|
0.00005
|
|
NM_006623.4(PHGDH):c.916A>G (p.Met306Val)
|
rs587648058
|
0.00005
|
|
NM_006623.4(PHGDH):c.946G>A (p.Val316Met)
|
rs146398308
|
0.00005
|
|
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
|
rs142293392
|
0.00005
|
|
NM_006859.4(LIAS):c.393+7C>T
|
rs372423537
|
0.00005
|
|
NM_006859.4(LIAS):c.609-19T>C
|
rs1169661442
|
0.00005
|
|
NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro)
|
rs768566945
|
0.00005
|
|
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val)
|
rs774598772
|
0.00005
|
|
NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys)
|
rs552425982
|
0.00005
|
|
NM_012213.3(MLYCD):c.798+8C>T
|
rs199720670
|
0.00005
|
|
NM_014251.3(SLC25A13):c.1079G>A (p.Arg360Gln)
|
rs918547530
|
0.00005
|
|
NM_014251.3(SLC25A13):c.165A>G (p.Pro55=)
|
rs945380705
|
0.00005
|
|
NM_014251.3(SLC25A13):c.1754G>A (p.Arg585His)
|
rs367770143
|
0.00005
|
|
NM_014251.3(SLC25A13):c.1869T>C (p.Pro623=)
|
rs201931382
|
0.00005
|
|
NM_014251.3(SLC25A13):c.454A>G (p.Thr152Ala)
|
rs146131228
|
0.00005
|
|
NM_014251.3(SLC25A13):c.551G>A (p.Arg184Gln)
|
rs142427515
|
0.00005
|
|
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=)
|
rs765358773
|
0.00005
|
|
NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)
|
rs543205273
|
0.00005
|
|
NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)
|
rs553432772
|
0.00005
|
|
NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)
|
rs752316567
|
0.00005
|
|
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)
|
rs104894429
|
0.00005
|
|
NM_014252.4(SLC25A15):c.788C>T (p.Thr263Met)
|
rs140242288
|
0.00005
|
|
NM_014384.3(ACAD8):c.408C>T (p.Phe136=)
|
rs143408080
|
0.00005
|
|
NM_014384.3(ACAD8):c.443C>T (p.Pro148Leu)
|
rs374584216
|
0.00005
|
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
|
NM_015509.4(NECAP1):c.301+15A>C
|
rs779900246
|
0.00005
|
|
NM_015509.4(NECAP1):c.417A>G (p.Glu139=)
|
rs778506326
|
0.00005
|
|
NM_015662.3(IFT172):c.1168-7G>A
|
rs373380537
|
0.00005
|
|
NM_015662.3(IFT172):c.1678A>G (p.Met560Val)
|
rs763516858
|
0.00005
|
|
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile)
|
rs369169776
|
0.00005
|
|
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln)
|
rs370097039
|
0.00005
|
|
NM_015662.3(IFT172):c.2670C>T (p.Ala890=)
|
rs374065796
|
0.00005
|
|
NM_015662.3(IFT172):c.3372-3C>T
|
rs150011917
|
0.00005
|
|
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn)
|
rs777398021
|
0.00005
|
|
NM_015662.3(IFT172):c.4436A>G (p.Asn1479Ser)
|
rs757946737
|
0.00005
|
|
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys)
|
rs201356906
|
0.00005
|
|
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys)
|
rs138003766
|
0.00005
|
|
NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp)
|
rs139348179
|
0.00005
|
|
NM_016335.6(PRODH):c.1181C>T (p.Thr394Met)
|
rs777930066
|
0.00005
|
|
NM_016335.6(PRODH):c.853A>G (p.Ser285Gly)
|
rs199829422
|
0.00005
|
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
|
NM_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
0.00005
|
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
|
NM_018706.7(DHTKD1):c.1408G>A (p.Gly470Arg)
|
rs35898320
|
0.00005
|
|
NM_018706.7(DHTKD1):c.1897-15C>T
|
rs767082732
|
0.00005
|
|
NM_018706.7(DHTKD1):c.2048-18C>A
|
rs532827857
|
0.00005
|
|
NM_018706.7(DHTKD1):c.2134C>T (p.Arg712Ter)
|
rs745432268
|
0.00005
|
|
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)
|
rs544349961
|
0.00005
|
|
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
|
rs199528231
|
0.00005
|
|
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
|
rs202192191
|
0.00005
|
|
NM_020166.5(MCCC1):c.2050-17G>C
|
rs371009096
|
0.00005
|
|
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val)
|
rs776594363
|
0.00005
|
|
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
|
rs762409158
|
0.00005
|
|
NM_020686.6(ABAT):c.1278C>T (p.Tyr426=)
|
rs372283568
|
0.00005
|
|
NM_020686.6(ABAT):c.668-3C>T
|
rs375716049
|
0.00005
|
|
NM_020686.6(ABAT):c.70+9C>T
|
rs374147109
|
0.00005
|
|
NM_020686.6(ABAT):c.950G>A (p.Arg317Lys)
|
rs768443644
|
0.00005
|
|
NM_020686.6(ABAT):c.954+17G>A
|
rs896794473
|
0.00005
|
|
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
|
rs774812912
|
0.00005
|
|
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=)
|
rs200915932
|
0.00005
|
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
|
NM_022132.5(MCCC2):c.72C>T (p.His24=)
|
rs374686220
|
0.00005
|
|
NM_030813.6(CLPB):c.660C>T (p.Asp220=)
|
rs759358526
|
0.00005
|
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
|
NM_054012.4(ASS1):c.1004G>A (p.Arg335His)
|
rs555388438
|
0.00005
|
|
NM_054012.4(ASS1):c.552C>T (p.Asn184=)
|
rs368192467
|
0.00005
|
|
NM_054012.4(ASS1):c.624G>A (p.Thr208=)
|
rs759518085
|
0.00005
|
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
|
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln)
|
rs771640767
|
0.00005
|
|
NM_058179.4(PSAT1):c.181C>T (p.Arg61Trp)
|
rs150812587
|
0.00005
|
|
NM_058179.4(PSAT1):c.370G>A (p.Val124Ile)
|
rs140897665
|
0.00005
|
|
NM_058179.4(PSAT1):c.638G>A (p.Arg213His)
|
rs759482379
|
0.00005
|
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
|
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
|
rs980989948
|
0.00005
|
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
|
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
|
rs767115507
|
0.00005
|
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
|
NM_177550.5(SLC13A5):c.1449C>T (p.Ile483=)
|
rs769760541
|
0.00005
|
|
NM_177550.5(SLC13A5):c.498C>T (p.Thr166=)
|
rs906604048
|
0.00005
|
|
NM_183050.4(BCKDHB):c.197-16T>C
|
rs759961267
|
0.00005
|
|
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val)
|
rs780399679
|
0.00005
|
|
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)
|
rs780576185
|
0.00005
|
|
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)
|
rs753331276
|
0.00005
|
|
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile)
|
rs938864433
|
0.00005
|
|
NM_201253.3(CRB1):c.447C>T (p.His149=)
|
rs576678571
|
0.00005
|
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
|
NM_205861.3(DHDDS):c.476G>A (p.Arg159His)
|
rs369429285
|
0.00005
|
|
NM_205861.3(DHDDS):c.65C>T (p.Ala22Val)
|
rs372070142
|
0.00005
|
|
NC_000022.11:g.40345595G>T
|
rs905746040
|
0.00004
|
|
NC_000022.11:g.40345634T>C
|
rs897270801
|
0.00004
|
|
NC_000022.11:g.40345661C>T
|
rs891295346
|
0.00004
|
|
NC_000022.11:g.40345972A>G
|
rs898010972
|
0.00004
|
|
NC_000022.11:g.40346228C>G
|
rs1426828844
|
0.00004
|
|
NC_000022.11:g.40346449G>C
|
rs554145337
|
0.00004
|
|
NC_000022.11:g.40346478G>C
|
rs936856129
|
0.00004
|
|
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala)
|
rs373057729
|
0.00004
|
|
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn)
|
rs759158371
|
0.00004
|
|
NM_000016.6(ACADM):c.287-10G>C
|
rs368875210
|
0.00004
|
|
NM_000016.6(ACADM):c.388-3T>G
|
rs764942250
|
0.00004
|
|
NM_000016.6(ACADM):c.388-5G>A
|
rs759254037
|
0.00004
|
|
NM_000016.6(ACADM):c.426G>A (p.Lys142=)
|
rs565131848
|
0.00004
|
|
NM_000016.6(ACADM):c.468+19C>T
|
rs762564037
|
0.00004
|
|
NM_000016.6(ACADM):c.50G>A (p.Arg17His)
|
rs17848070
|
0.00004
|
|
NM_000016.6(ACADM):c.57T>C (p.His19=)
|
rs762984318
|
0.00004
|
|
NM_000016.6(ACADM):c.960A>G (p.Ser320=)
|
rs138728545
|
0.00004
|
|
NM_000017.4(ACADS):c.1104C>T (p.Gly368=)
|
rs200165866
|
0.00004
|
|
NM_000017.4(ACADS):c.1138C>T (p.Arg380Trp)
|
rs28940875
|
0.00004
|
|
NM_000017.4(ACADS):c.147C>G (p.Ala49=)
|
rs202193021
|
0.00004
|
|
NM_000017.4(ACADS):c.274G>T (p.Gly92Cys)
|
rs121908004
|
0.00004
|
|
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)
|
rs149107232
|
0.00004
|
|
NM_000017.4(ACADS):c.663G>T (p.Gly221=)
|
rs751023929
|
0.00004
|
|
NM_000017.4(ACADS):c.775A>G (p.Met259Val)
|
rs752079325
|
0.00004
|
|
NM_000017.4(ACADS):c.888T>C (p.Asn296=)
|
rs111686208
|
0.00004
|
|
NM_000017.4(ACADS):c.905C>T (p.Ala302Val)
|
rs770009021
|
0.00004
|
|
NM_000017.4(ACADS):c.934-18G>C
|
rs371199821
|
0.00004
|
|
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp)
|
rs536992268
|
0.00004
|
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
|
NM_000018.4(ACADVL):c.1332+10G>A
|
rs763921736
|
0.00004
|
|
NM_000018.4(ACADVL):c.138G>A (p.Gln46=)
|
rs775956800
|
0.00004
|
|
NM_000018.4(ACADVL):c.139-20C>T
|
rs374535729
|
0.00004
|
|
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)
|
rs771025937
|
0.00004
|
|
NM_000018.4(ACADVL):c.1592G>A (p.Arg531Gln)
|
rs772763960
|
0.00004
|
|
NM_000018.4(ACADVL):c.1752-17C>T
|
rs750855741
|
0.00004
|
|
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)
|
rs200117742
|
0.00004
|
|
NM_000018.4(ACADVL):c.1849G>A (p.Gly617Ser)
|
rs752227163
|
0.00004
|
|
NM_000018.4(ACADVL):c.1857C>T (p.Ala619=)
|
rs375730795
|
0.00004
|
|
NM_000018.4(ACADVL):c.255T>C (p.Asp85=)
|
rs201085520
|
0.00004
|
|
NM_000018.4(ACADVL):c.342+15G>A
|
rs777751102
|
0.00004
|
|
NM_000018.4(ACADVL):c.352G>A (p.Asp118Asn)
|
rs543878973
|
0.00004
|
|
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)
|
rs778514103
|
0.00004
|
|
NM_000019.4(ACAT1):c.1006-17C>G
|
rs1409314804
|
0.00004
|
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
|
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)
|
rs374439037
|
0.00004
|
|
NM_000019.4(ACAT1):c.436-5C>T
|
rs369472868
|
0.00004
|
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
|
NM_000019.4(ACAT1):c.546C>T (p.Asp182=)
|
rs373393997
|
0.00004
|
|
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln)
|
rs370720208
|
0.00004
|
|
NM_000019.4(ACAT1):c.636C>T (p.Asp212=)
|
rs759659537
|
0.00004
|
|
NM_000019.4(ACAT1):c.730+12G>A
|
rs559179516
|
0.00004
|
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
|
NM_000019.4(ACAT1):c.918T>A (p.Val306=)
|
rs200318899
|
0.00004
|
|
NM_000026.4(ADSL):c.1011-9G>C
|
rs780794164
|
0.00004
|
|
NM_000026.4(ADSL):c.1102-4A>G
|
rs371780382
|
0.00004
|
|
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)
|
rs192303222
|
0.00004
|
|
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)
|
rs568567422
|
0.00004
|
|
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)
|
rs145750778
|
0.00004
|
|
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)
|
rs758241731
|
0.00004
|
|
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)
|
rs775671027
|
0.00004
|
|
NM_000026.4(ADSL):c.153+7G>A
|
rs376477242
|
0.00004
|
|
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)
|
rs776685935
|
0.00004
|
|
NM_000026.4(ADSL):c.408C>T (p.Ala136=)
|
rs368166273
|
0.00004
|
|
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)
|
rs374047157
|
0.00004
|
|
NM_000026.4(ADSL):c.801C>T (p.Thr267=)
|
rs369069575
|
0.00004
|
|
NM_000026.4(ADSL):c.870T>C (p.Ser290=)
|
rs146890981
|
0.00004
|
|
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)
|
rs536254357
|
0.00004
|
|
NM_000045.4(ARG1):c.306-16A>T
|
rs772341418
|
0.00004
|
|
NM_000045.4(ARG1):c.471C>T (p.Pro157=)
|
rs766853875
|
0.00004
|
|
NM_000045.4(ARG1):c.564C>T (p.Tyr188=)
|
rs376378819
|
0.00004
|
|
NM_000045.4(ARG1):c.822T>C (p.Asp274=)
|
rs1353394805
|
0.00004
|
|
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro)
|
rs755359126
|
0.00004
|
|
NM_000045.4(ARG1):c.907T>G (p.Cys303Gly)
|
rs148113697
|
0.00004
|
|
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr)
|
rs202219126
|
0.00004
|
|
NM_000048.4(ASL):c.1063-8G>A
|
rs548397162
|
0.00004
|
|
NM_000048.4(ASL):c.13-4C>T
|
rs201082875
|
0.00004
|
|
NM_000048.4(ASL):c.159G>A (p.Gly53=)
|
rs745883849
|
0.00004
|
|
NM_000048.4(ASL):c.219G>A (p.Glu73=)
|
rs775520810
|
0.00004
|
|
NM_000048.4(ASL):c.348+8A>T
|
rs757626168
|
0.00004
|
|
NM_000048.4(ASL):c.369G>A (p.Leu123=)
|
rs968632275
|
0.00004
|
|
NM_000048.4(ASL):c.528C>T (p.His176=)
|
rs150557376
|
0.00004
|
|
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)
|
rs373697663
|
0.00004
|
|
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)
|
rs369879957
|
0.00004
|
|
NM_000048.4(ASL):c.718+3G>A
|
rs368266194
|
0.00004
|
|
NM_000071.3(CBS):c.1145+10G>A
|
rs150863939
|
0.00004
|
|
NM_000071.3(CBS):c.1281G>A (p.Pro427=)
|
rs563330591
|
0.00004
|
|
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)
|
rs755106884
|
0.00004
|
|
NM_000071.3(CBS):c.1512G>A (p.Glu504=)
|
rs149170219
|
0.00004
|
|
NM_000071.3(CBS):c.175C>T (p.Pro59Ser)
|
rs376496085
|
0.00004
|
|
NM_000071.3(CBS):c.18C>T (p.Pro6=)
|
rs777370660
|
0.00004
|
|
NM_000071.3(CBS):c.341C>T (p.Ala114Val)
|
rs121964964
|
0.00004
|
|
NM_000071.3(CBS):c.342G>A (p.Ala114=)
|
rs145338910
|
0.00004
|
|
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)
|
rs373782713
|
0.00004
|
|
NM_000071.3(CBS):c.501C>T (p.Ile167=)
|
rs754246295
|
0.00004
|
|
NM_000071.3(CBS):c.71C>T (p.Ala24Val)
|
rs759682004
|
0.00004
|
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
|
NM_000108.5(DLD):c.764T>C (p.Met255Thr)
|
rs185710460
|
0.00004
|
|
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
|
rs942843326
|
0.00004
|
|
NM_000108.5(DLD):c.82T>C (p.Ser28Pro)
|
rs768123909
|
0.00004
|
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
|
NM_000108.5(DLD):c.951C>G (p.Pro317=)
|
rs778207997
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
|
NM_000126.4(ETFA):c.345C>T (p.Phe115=)
|
rs760557143
|
0.00004
|
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
|
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)
|
rs374127169
|
0.00004
|
|
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)
|
rs986861899
|
0.00004
|
|
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)
|
rs769976586
|
0.00004
|
|
NM_000137.4(FAH):c.1204C>T (p.Arg402Cys)
|
rs780378868
|
0.00004
|
|
NM_000137.4(FAH):c.270T>C (p.Ser90=)
|
rs1353456033
|
0.00004
|
|
NM_000137.4(FAH):c.322A>G (p.Ile108Val)
|
rs747942022
|
0.00004
|
|
NM_000137.4(FAH):c.408C>T (p.Asn136=)
|
rs111972793
|
0.00004
|
|
NM_000137.4(FAH):c.441G>A (p.Ala147=)
|
rs141863249
|
0.00004
|
|
NM_000137.4(FAH):c.484C>T (p.Arg162Cys)
|
rs959533704
|
0.00004
|
|
NM_000137.4(FAH):c.81+8G>A
|
rs188046704
|
0.00004
|
|
NM_000137.4(FAH):c.82-14C>T
|
rs746674102
|
0.00004
|
|
NM_000137.4(FAH):c.975G>C (p.Thr325=)
|
rs776473288
|
0.00004
|
|
NM_000137.4(FAH):c.978G>T (p.Met326Ile)
|
rs374655382
|
0.00004
|
|
NM_000156.6(GAMT):c.311C>T (p.Pro104Leu)
|
rs368864187
|
0.00004
|
|
NM_000156.6(GAMT):c.378C>T (p.Asp126=)
|
rs538244028
|
0.00004
|
|
NM_000156.6(GAMT):c.402C>T (p.Tyr134=)
|
rs556829801
|
0.00004
|
|
NM_000156.6(GAMT):c.419C>T (p.Ser140Leu)
|
rs747656257
|
0.00004
|
|
NM_000156.6(GAMT):c.585C>T (p.Pro195=)
|
rs371024035
|
0.00004
|
|
NM_000156.6(GAMT):c.655G>A (p.Asp219Asn)
|
rs753228876
|
0.00004
|
|
NM_000156.6(GAMT):c.8C>T (p.Ala3Val)
|
rs1467893087
|
0.00004
|
|
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys)
|
rs781477694
|
0.00004
|
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
|
NM_000159.4(GCDH):c.1188C>T (p.Asp396=)
|
rs779968566
|
0.00004
|
|
NM_000159.4(GCDH):c.1275G>A (p.Gly425=)
|
rs778633875
|
0.00004
|
|
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)
|
rs1025558859
|
0.00004
|
|
NM_000159.4(GCDH):c.285G>A (p.Glu95=)
|
rs772071645
|
0.00004
|
|
NM_000159.4(GCDH):c.428T>C (p.Val143Ala)
|
rs141456457
|
0.00004
|
|
NM_000159.4(GCDH):c.679C>T (p.Arg227Trp)
|
rs368357056
|
0.00004
|
|
NM_000159.4(GCDH):c.848del (p.Leu283fs)
|
rs761491320
|
0.00004
|
|
NM_000159.4(GCDH):c.945C>T (p.Tyr315=)
|
rs138133019
|
0.00004
|
|
NM_000159.4(GCDH):c.976C>T (p.Leu326=)
|
rs907822395
|
0.00004
|
|
NM_000161.3(GCH1):c.509+19T>C
|
rs374420051
|
0.00004
|
|
NM_000161.3(GCH1):c.510-19A>T
|
rs778122258
|
0.00004
|
|
NM_000170.3(GLDC):c.1110A>G (p.Gln370=)
|
rs778787964
|
0.00004
|
|
NM_000170.3(GLDC):c.1308T>C (p.Asp436=)
|
rs1314627231
|
0.00004
|
|
NM_000170.3(GLDC):c.1424C>T (p.Thr475Ile)
|
rs750883330
|
0.00004
|
|
NM_000170.3(GLDC):c.1483-15G>C
|
rs371777070
|
0.00004
|
|
NM_000170.3(GLDC):c.150G>A (p.Ser50=)
|
rs768354829
|
0.00004
|
|
NM_000170.3(GLDC):c.1534G>C (p.Val512Leu)
|
rs751521889
|
0.00004
|
|
NM_000170.3(GLDC):c.1580+9G>A
|
rs759094314
|
0.00004
|
|
NM_000170.3(GLDC):c.1626A>G (p.Glu542=)
|
rs779537709
|
0.00004
|
|
NM_000170.3(GLDC):c.1666-6T>C
|
rs766481730
|
0.00004
|
|
NM_000170.3(GLDC):c.1754T>C (p.Leu585Pro)
|
rs767055450
|
0.00004
|
|
NM_000170.3(GLDC):c.2035G>A (p.Val679Ile)
|
rs778376889
|
0.00004
|
|
NM_000170.3(GLDC):c.2202+8C>A
|
rs577906178
|
0.00004
|
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
|
NM_000170.3(GLDC):c.228A>G (p.Arg76=)
|
rs749103956
|
0.00004
|
|
NM_000170.3(GLDC):c.2304G>A (p.Gly768=)
|
rs533775952
|
0.00004
|
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
|
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val)
|
rs139300551
|
0.00004
|
|
NM_000170.3(GLDC):c.2397C>T (p.Thr799=)
|
rs778396953
|
0.00004
|
|
NM_000170.3(GLDC):c.2406G>A (p.Ala802=)
|
rs368811775
|
0.00004
|
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
|
NM_000170.3(GLDC):c.2545A>G (p.Arg849Gly)
|
rs778000679
|
0.00004
|
|
NM_000170.3(GLDC):c.2565A>C (p.Ala855=)
|
rs966395392
|
0.00004
|
|
NM_000170.3(GLDC):c.2673C>T (p.His891=)
|
rs144939090
|
0.00004
|
|
NM_000170.3(GLDC):c.2832G>A (p.Pro944=)
|
rs764242927
|
0.00004
|
|
NM_000170.3(GLDC):c.2862C>T (p.Cys954=)
|
rs780534916
|
0.00004
|
|
NM_000170.3(GLDC):c.2919+17T>G
|
rs372909849
|
0.00004
|
|
NM_000170.3(GLDC):c.292A>G (p.Asn98Asp)
|
rs750964572
|
0.00004
|
|
NM_000170.3(GLDC):c.310C>A (p.Pro104Thr)
|
rs543718579
|
0.00004
|
|
NM_000170.3(GLDC):c.335-10C>T
|
rs373940475
|
0.00004
|
|
NM_000170.3(GLDC):c.471-20A>G
|
rs750857265
|
0.00004
|
|
NM_000170.3(GLDC):c.489A>G (p.Pro163=)
|
rs770044310
|
0.00004
|
|
NM_000170.3(GLDC):c.699C>T (p.Val233=)
|
rs372130842
|
0.00004
|
|
NM_000170.3(GLDC):c.745C>T (p.Pro249Ser)
|
rs778202301
|
0.00004
|
|
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)
|
rs534936420
|
0.00004
|
|
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys)
|
rs769821069
|
0.00004
|
|
NM_000182.5(HADHA):c.1086-12C>T
|
rs767692992
|
0.00004
|
|
NM_000182.5(HADHA):c.1141G>A (p.Val381Met)
|
rs764067083
|
0.00004
|
|
NM_000182.5(HADHA):c.1209A>G (p.Gln403=)
|
rs780178287
|
0.00004
|
|
NM_000182.5(HADHA):c.1542C>T (p.Thr514=)
|
rs374189575
|
0.00004
|
|
NM_000182.5(HADHA):c.1554C>A (p.Ser518=)
|
rs765162716
|
0.00004
|
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
|
NM_000182.5(HADHA):c.1788G>A (p.Ala596=)
|
rs190409957
|
0.00004
|
|
NM_000182.5(HADHA):c.316A>G (p.Met106Val)
|
rs143122454
|
0.00004
|
|
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp)
|
rs762296285
|
0.00004
|
|
NM_000182.5(HADHA):c.504A>G (p.Val168=)
|
rs1004279547
|
0.00004
|
|
NM_000182.5(HADHA):c.585T>A (p.Pro195=)
|
rs202034466
|
0.00004
|
|
NM_000182.5(HADHA):c.858G>A (p.Val286=)
|
rs373864418
|
0.00004
|
|
NM_000182.5(HADHA):c.896C>A (p.Pro299His)
|
rs905722226
|
0.00004
|
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
|
NM_000187.4(HGD):c.1027A>C (p.Met343Leu)
|
rs755078457
|
0.00004
|
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
|
NM_000187.4(HGD):c.177-5T>C
|
rs768308376
|
0.00004
|
|
NM_000187.4(HGD):c.24T>C (p.Ser8=)
|
rs745386219
|
0.00004
|
|
NM_000187.4(HGD):c.347T>C (p.Leu116Pro)
|
rs569846003
|
0.00004
|
|
NM_000187.4(HGD):c.359G>T (p.Cys120Phe)
|
rs752153829
|
0.00004
|
|
NM_000187.4(HGD):c.502G>A (p.Glu168Lys)
|
rs375283568
|
0.00004
|
|
NM_000187.4(HGD):c.6T>A (p.Ala2=)
|
rs1308413187
|
0.00004
|
|
NM_000187.4(HGD):c.807C>T (p.His269=)
|
rs758567130
|
0.00004
|
|
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)
|
rs121964997
|
0.00004
|
|
NM_000191.3(HMGCL):c.145-13C>T
|
rs762224192
|
0.00004
|
|
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)
|
rs764292245
|
0.00004
|
|
NM_000191.3(HMGCL):c.698A>G (p.His233Arg)
|
rs727503963
|
0.00004
|
|
NM_000191.3(HMGCL):c.717T>G (p.Gly239=)
|
rs370708710
|
0.00004
|
|
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)
|
rs368688262
|
0.00004
|
|
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
|
rs777758512
|
0.00004
|
|
NM_000240.4(MAOA):c.1262+18C>T
|
rs372784589
|
0.00004
|
|
NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)
|
rs201799429
|
0.00004
|
|
NM_000240.4(MAOA):c.702C>T (p.Leu234=)
|
rs370853887
|
0.00004
|
|
NM_000254.3(MTR):c.1086C>G (p.Pro362=)
|
rs779393795
|
0.00004
|
|
NM_000254.3(MTR):c.1128G>A (p.Glu376=)
|
rs759636736
|
0.00004
|
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
|
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala)
|
rs144374509
|
0.00004
|
|
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)
|
rs750824195
|
0.00004
|
|
NM_000254.3(MTR):c.2326G>A (p.Val776Met)
|
rs542575330
|
0.00004
|
|
NM_000254.3(MTR):c.2328G>T (p.Val776=)
|
rs980038551
|
0.00004
|
|
NM_000254.3(MTR):c.2474-20T>A
|
rs377347275
|
0.00004
|
|
NM_000254.3(MTR):c.250-1G>C
|
rs145939391
|
0.00004
|
|
NM_000254.3(MTR):c.2703A>G (p.Leu901=)
|
rs780615625
|
0.00004
|
|
NM_000254.3(MTR):c.2718T>C (p.Phe906=)
|
rs371962565
|
0.00004
|
|
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp)
|
rs201015844
|
0.00004
|
|
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln)
|
rs556429682
|
0.00004
|
|
NM_000254.3(MTR):c.356T>C (p.Met119Thr)
|
rs151161326
|
0.00004
|
|
NM_000254.3(MTR):c.632A>G (p.Asn211Ser)
|
rs546918671
|
0.00004
|
|
NM_000254.3(MTR):c.659G>A (p.Arg220Gln)
|
rs780526997
|
0.00004
|
|
NM_000254.3(MTR):c.996-5C>T
|
rs914525473
|
0.00004
|
|
NM_000274.4(OAT):c.1002C>T (p.Ile334=)
|
rs757744354
|
0.00004
|
|
NM_000274.4(OAT):c.1056G>A (p.Leu352=)
|
rs766145396
|
0.00004
|
|
NM_000274.4(OAT):c.1228G>A (p.Asp410Asn)
|
rs745530000
|
0.00004
|
|
NM_000274.4(OAT):c.425-13T>C
|
rs752220933
|
0.00004
|
|
NM_000274.4(OAT):c.543G>A (p.Thr181=)
|
rs558611630
|
0.00004
|
|
NM_000274.4(OAT):c.772-10T>C
|
rs759900831
|
0.00004
|
|
NM_000276.4(OCRL):c.1395C>T (p.Asp465=)
|
rs754797006
|
0.00004
|
|
NM_000276.4(OCRL):c.1467T>C (p.Ser489=)
|
rs142398161
|
0.00004
|
|
NM_000276.4(OCRL):c.1713+6C>G
|
rs191367057
|
0.00004
|
|
NM_000276.4(OCRL):c.1943C>T (p.Ser648Leu)
|
rs753260631
|
0.00004
|
|
NM_000276.4(OCRL):c.2694C>T (p.Ser898=)
|
rs780742903
|
0.00004
|
|
NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)
|
rs773022942
|
0.00004
|
|
NM_000277.3(PAH):c.1002C>T (p.Cys334=)
|
rs140243918
|
0.00004
|
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
|
NM_000277.3(PAH):c.1093C>T (p.Leu365Phe)
|
rs951540129
|
0.00004
|
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
|
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys)
|
rs62644467
|
0.00004
|
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
|
NM_000277.3(PAH):c.441+7C>A
|
rs775999845
|
0.00004
|
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
|
NM_000277.3(PAH):c.588C>T (p.Ser196=)
|
rs755420480
|
0.00004
|
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
|
NM_000277.3(PAH):c.925G>T (p.Ala309Ser)
|
rs1205657950
|
0.00004
|
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
|
NM_000281.4(PCBD1):c.246T>C (p.Cys82=)
|
rs371676743
|
0.00004
|
|
NM_000281.4(PCBD1):c.262C>T (p.Arg88Trp)
|
rs564505637
|
0.00004
|
|
NM_000282.4(PCCA):c.1176C>T (p.Asn392=)
|
rs138597181
|
0.00004
|
|
NM_000282.4(PCCA):c.1763C>T (p.Ser588Leu)
|
rs532947142
|
0.00004
|
|
NM_000282.4(PCCA):c.184-6C>T
|
rs542777393
|
0.00004
|
|
NM_000282.4(PCCA):c.2025C>G (p.Val675=)
|
rs891946343
|
0.00004
|
|
NM_000282.4(PCCA):c.2040+11T>C
|
rs200641726
|
0.00004
|
|
NM_000282.4(PCCA):c.2069T>C (p.Ile690Thr)
|
rs376535469
|
0.00004
|
|
NM_000282.4(PCCA):c.327T>C (p.Ala109=)
|
rs764005205
|
0.00004
|
|
NM_000282.4(PCCA):c.525C>T (p.Gly175=)
|
rs151168308
|
0.00004
|
|
NM_000282.4(PCCA):c.645T>G (p.Pro215=)
|
rs751840442
|
0.00004
|
|
NM_000282.4(PCCA):c.768T>C (p.Asp256=)
|
rs1239656926
|
0.00004
|
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
|
NM_000282.4(PCCA):c.819+9A>G
|
rs372739944
|
0.00004
|
|
NM_000282.4(PCCA):c.825A>G (p.Leu275=)
|
rs376560248
|
0.00004
|
|
NM_000282.4(PCCA):c.943G>A (p.Ala315Thr)
|
rs759223615
|
0.00004
|
|
NM_000317.3(PTS):c.144C>T (p.Gly48=)
|
rs778754646
|
0.00004
|
|
NM_000317.3(PTS):c.164-672C>T
|
rs1030849527
|
0.00004
|
|
NM_000317.3(PTS):c.244-13G>C
|
rs374541778
|
0.00004
|
|
NM_000317.3(PTS):c.420G>T (p.Val140=)
|
rs146364246
|
0.00004
|
|
NM_000317.3(PTS):c.83+10G>C
|
rs372809628
|
0.00004
|
|
NM_000320.3(QDPR):c.408C>T (p.Gly136=)
|
rs3733569
|
0.00004
|
|
NM_000320.3(QDPR):c.436+16C>T
|
rs187812666
|
0.00004
|
|
NM_000320.3(QDPR):c.504C>G (p.Asn168Lys)
|
rs767223209
|
0.00004
|
|
NM_000320.3(QDPR):c.629+18G>A
|
rs758057470
|
0.00004
|
|
NM_000320.3(QDPR):c.630-20A>C
|
rs769294923
|
0.00004
|
|
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
|
rs371586530
|
0.00004
|
|
NM_000329.3(RPE65):c.1104T>C (p.Tyr368=)
|
rs764797700
|
0.00004
|
|
NM_000329.3(RPE65):c.1129-5C>T
|
rs368533067
|
0.00004
|
|
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
|
rs369142161
|
0.00004
|
|
NM_000329.3(RPE65):c.1244-17T>A
|
rs528268427
|
0.00004
|
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
0.00004
|
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
|
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
|
rs370076628
|
0.00004
|
|
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser)
|
rs891340302
|
0.00004
|
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
|
NM_000329.3(RPE65):c.637C>A (p.Gln213Lys)
|
rs777966849
|
0.00004
|
|
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)
|
rs61751277
|
0.00004
|
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
|
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser)
|
rs144612129
|
0.00004
|
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=)
|
rs760943092
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser)
|
rs146963107
|
0.00004
|
|
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn)
|
rs147004629
|
0.00004
|
|
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)
|
rs781253461
|
0.00004
|
|
NM_000353.3(TAT):c.1239G>A (p.Pro413=)
|
rs146926467
|
0.00004
|
|
NM_000353.3(TAT):c.192G>A (p.Lys64=)
|
rs1246137962
|
0.00004
|
|
NM_000353.3(TAT):c.360G>A (p.Glu120=)
|
rs752517713
|
0.00004
|
|
NM_000353.3(TAT):c.578C>A (p.Ser193Tyr)
|
rs142154262
|
0.00004
|
|
NM_000360.4(TH):c.1296C>T (p.Phe432=)
|
rs760210103
|
0.00004
|
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
|
NM_000360.4(TH):c.132C>T (p.Asp44=)
|
rs767310984
|
0.00004
|
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
|
NM_000360.4(TH):c.153G>A (p.Ala51=)
|
rs149580405
|
0.00004
|
|
NM_000360.4(TH):c.24G>A (p.Thr8=)
|
rs529205525
|
0.00004
|
|
NM_000360.4(TH):c.264G>A (p.Pro88=)
|
rs113140700
|
0.00004
|
|
NM_000360.4(TH):c.304G>T (p.Val102Leu)
|
rs372077622
|
0.00004
|
|
NM_000360.4(TH):c.312+17C>T
|
rs368788352
|
0.00004
|
|
NM_000360.4(TH):c.313-9C>T
|
rs538345855
|
0.00004
|
|
NM_000360.4(TH):c.599G>A (p.Arg200His)
|
rs201224335
|
0.00004
|
|
NM_000360.4(TH):c.653C>T (p.Pro218Leu)
|
rs377729019
|
0.00004
|
|
NM_000360.4(TH):c.758A>T (p.Glu253Val)
|
rs369397659
|
0.00004
|
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
|
NM_000360.4(TH):c.90+30G>A
|
rs200408490
|
0.00004
|
|
NM_000360.4(TH):c.90+7G>T
|
rs746965239
|
0.00004
|
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
|
NM_000360.4(TH):c.931A>G (p.Thr311Ala)
|
rs1016513333
|
0.00004
|
|
NM_000360.4(TH):c.950C>G (p.Ala317Gly)
|
rs370710158
|
0.00004
|
|
NM_000360.4(TH):c.978-3C>A
|
rs754735292
|
0.00004
|
|
NM_000387.6(SLC25A20):c.327-6A>G
|
rs113818669
|
0.00004
|
|
NM_000387.6(SLC25A20):c.844-19C>T
|
rs1057522215
|
0.00004
|
|
NM_000481.4(AMT):c.*86G>T
|
rs745685639
|
0.00004
|
|
NM_000481.4(AMT):c.1097C>T (p.Pro366Leu)
|
rs201400089
|
0.00004
|
|
NM_000481.4(AMT):c.148G>C (p.Val50Leu)
|
rs148917929
|
0.00004
|
|
NM_000481.4(AMT):c.195C>T (p.His65=)
|
rs145243292
|
0.00004
|
|
NM_000481.4(AMT):c.203C>T (p.Ser68Leu)
|
rs759015013
|
0.00004
|
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
|
NM_000481.4(AMT):c.283G>A (p.Val95Met)
|
rs183396486
|
0.00004
|
|
NM_000481.4(AMT):c.403A>G (p.Thr135Ala)
|
rs768698117
|
0.00004
|
|
NM_000481.4(AMT):c.642C>T (p.Gly214=)
|
rs759245586
|
0.00004
|
|
NM_000481.4(AMT):c.752C>G (p.Pro251Arg)
|
rs770999859
|
0.00004
|
|
NM_000481.4(AMT):c.789C>T (p.Ser263=)
|
rs753177107
|
0.00004
|
|
NM_000481.4(AMT):c.944G>A (p.Arg315Lys)
|
rs376366324
|
0.00004
|
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
|
NM_000481.4(AMT):c.962T>C (p.Val321Ala)
|
rs766509002
|
0.00004
|
|
NM_000531.6(OTC):c.299-7dup
|
rs374145788
|
0.00004
|
|
NM_000531.6(OTC):c.360G>A (p.Val120=)
|
rs768780957
|
0.00004
|
|
NM_000531.6(OTC):c.498G>T (p.Leu166Phe)
|
rs759911602
|
0.00004
|
|
NM_000531.6(OTC):c.85C>G (p.Gln29Glu)
|
rs752916728
|
0.00004
|
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
|
NM_000532.5(PCCB):c.1355A>G (p.Asn452Ser)
|
rs746240889
|
0.00004
|
|
NM_000532.5(PCCB):c.1371C>T (p.Thr457=)
|
rs140630332
|
0.00004
|
|
NM_000532.5(PCCB):c.1498+10T>G
|
rs777201996
|
0.00004
|
|
NM_000532.5(PCCB):c.1499-20C>T
|
rs183824739
|
0.00004
|
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
|
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln)
|
rs577625696
|
0.00004
|
|
NM_000532.5(PCCB):c.163A>G (p.Ile55Val)
|
rs561539546
|
0.00004
|
|
NM_000532.5(PCCB):c.169G>A (p.Ala57Thr)
|
rs371406048
|
0.00004
|
|
NM_000532.5(PCCB):c.183+17C>T
|
rs776965589
|
0.00004
|
|
NM_000532.5(PCCB):c.246C>T (p.Ser82=)
|
rs150449954
|
0.00004
|
|
NM_000532.5(PCCB):c.306T>G (p.Phe102Leu)
|
rs770601332
|
0.00004
|
|
NM_000532.5(PCCB):c.372+17A>G
|
rs192106664
|
0.00004
|
|
NM_000532.5(PCCB):c.402A>G (p.Ser134=)
|
rs200988668
|
0.00004
|
|
NM_000532.5(PCCB):c.51G>A (p.Leu17=)
|
rs1262464904
|
0.00004
|
|
NM_000532.5(PCCB):c.613G>A (p.Val205Ile)
|
rs141956198
|
0.00004
|
|
NM_000532.5(PCCB):c.663C>G (p.Ser221=)
|
rs771455499
|
0.00004
|
|
NM_000532.5(PCCB):c.764-3T>C
|
rs147939913
|
0.00004
|
|
NM_000532.5(PCCB):c.950T>A (p.Val317Glu)
|
rs762758029
|
0.00004
|
|
NM_000554.6(CRX):c.332A>G (p.Gln111Arg)
|
rs760741667
|
0.00004
|
|
NM_000554.6(CRX):c.335C>T (p.Ala112Val)
|
rs61748439
|
0.00004
|
|
NM_000554.6(CRX):c.42C>T (p.Asn14=)
|
rs774344094
|
0.00004
|
|
NM_000554.6(CRX):c.491G>A (p.Ser164Asn)
|
rs1039194669
|
0.00004
|
|
NM_000554.6(CRX):c.585C>T (p.Tyr195=)
|
rs373497612
|
0.00004
|
|
NM_000554.6(CRX):c.591G>A (p.Pro197=)
|
rs769009205
|
0.00004
|
|
NM_000554.6(CRX):c.619G>A (p.Ala207Thr)
|
rs376982187
|
0.00004
|
|
NM_000554.6(CRX):c.645C>T (p.Phe215=)
|
rs191794330
|
0.00004
|
|
NM_000554.6(CRX):c.648C>T (p.Ser216=)
|
rs772398140
|
0.00004
|
|
NM_000554.6(CRX):c.720C>G (p.Pro240=)
|
rs748655180
|
0.00004
|
|
NM_000554.6(CRX):c.789C>T (p.Pro263=)
|
rs550083287
|
0.00004
|
|
NM_000554.6(CRX):c.818C>T (p.Thr273Met)
|
rs281865203
|
0.00004
|
|
NM_000554.6(CRX):c.83A>G (p.Gln28Arg)
|
rs781577708
|
0.00004
|
|
NM_000554.6(CRX):c.9G>A (p.Ala3=)
|
rs140766502
|
0.00004
|
|
NM_000687.4(AHCY):c.393C>T (p.Asp131=)
|
rs553442034
|
0.00004
|
|
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=)
|
rs373390136
|
0.00004
|
|
NM_000709.4(BCKDHA):c.1192G>A (p.Glu398Lys)
|
rs201168715
|
0.00004
|
|
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys)
|
rs188135164
|
0.00004
|
|
NM_000709.4(BCKDHA):c.351C>T (p.Arg117=)
|
rs573976272
|
0.00004
|
|
NM_000709.4(BCKDHA):c.436G>A (p.Ala146Thr)
|
rs373078413
|
0.00004
|
|
NM_000709.4(BCKDHA):c.607G>A (p.Val203Ile)
|
rs988176395
|
0.00004
|
|
NM_000709.4(BCKDHA):c.921C>T (p.Tyr307=)
|
rs758972542
|
0.00004
|
|
NM_000709.4(BCKDHA):c.996-26A>G
|
rs757986569
|
0.00004
|
|
NM_001002755.4(NFU1):c.546-16T>C
|
rs750424685
|
0.00004
|
|
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)
|
rs201634470
|
0.00004
|
|
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)
|
rs377381866
|
0.00004
|
|
NM_001010867.4(IBA57):c.114T>C (p.Pro38=)
|
rs1051788506
|
0.00004
|
|
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter)
|
rs778374267
|
0.00004
|
|
NM_001010867.4(IBA57):c.341+4A>G
|
rs536036624
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.1336-12G>A
|
rs201040295
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.1537-17A>G
|
rs201703200
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.1537-9C>G
|
rs201085053
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.1780G>A (p.Ala594Thr)
|
rs2286247
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.1811G>T (p.Gly604Val)
|
rs200955940
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.319+14G>A
|
rs201038599
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.407C>T (p.Ser136Leu)
|
rs201065535
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.468C>T (p.Cys156=)
|
rs777756958
|
0.00004
|
|
NM_001024845.3(SLC6A9):c.774T>A (p.Phe258Leu)
|
rs199861598
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1186G>A (p.Val396Met)
|
rs199686669
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter)
|
rs118203983
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1277G>A (p.Cys426Tyr)
|
rs764512077
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1343+20G>A
|
rs374536399
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1354G>C (p.Glu452Gln)
|
rs781336101
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1403-20G>A
|
rs201826601
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1428C>T (p.Ala476=)
|
rs1003592170
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1530C>T (p.Ser510=)
|
rs780090048
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1539G>A (p.Gly513=)
|
rs778867668
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1588G>C (p.Val530Leu)
|
rs1027980375
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.1596C>T (p.Tyr532=)
|
rs370544116
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)
|
rs767601869
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.606C>A (p.Thr202=)
|
rs375585467
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.794A>C (p.Lys265Thr)
|
rs201146454
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.870+14G>A
|
rs375583348
|
0.00004
|
|
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)
|
rs188108571
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1080A>C (p.Ser360=)
|
rs920116858
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)
|
rs752902118
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1627C>T (p.Arg543Trp)
|
rs1349147232
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2105-8A>G
|
rs763822129
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=)
|
rs781239273
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2279+12del
|
rs764839773
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2280-16_2280-7del
|
rs756552078
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)
|
rs1262547488
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=)
|
rs909344317
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=)
|
rs547576283
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup)
|
rs995883431
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)
|
rs762343454
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3120G>A (p.Ser1040=)
|
rs763969240
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val)
|
rs370396470
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3612G>A (p.Glu1204=)
|
rs749273165
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)
|
rs368211900
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)
|
rs750231498
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)
|
rs368048030
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=)
|
rs774224202
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3882+7G>A
|
rs376836245
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)
|
rs369440853
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4521C>A (p.Ala1507=)
|
rs183712771
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4866+10A>G
|
rs746939321
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=)
|
rs753180610
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)
|
rs573209959
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val)
|
rs539463134
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5067+11G>A
|
rs761890193
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)
|
rs371273055
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.539+10G>A
|
rs375079448
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5401-3C>T
|
rs375947967
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5528+7A>G
|
rs367551746
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5529-1222T>C
|
rs374688464
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=)
|
rs773419069
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)
|
rs761560224
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6189+9G>T
|
rs568861195
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6304-14T>C
|
rs776930613
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.631+14C>T
|
rs1377159542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6339+12G>A
|
rs371246823
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6339+9C>T
|
rs369361580
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu)
|
rs377294817
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6715C>T (p.Arg2239Trp)
|
rs759576380
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6731G>A (p.Arg2244His)
|
rs1057521565
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=)
|
rs544057763
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.784+9A>G
|
rs746215285
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.984C>T (p.Asn328=)
|
rs772301380
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=)
|
rs201792144
|
0.00004
|
|
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His)
|
rs144711526
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=)
|
rs766713747
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=)
|
rs3743984
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met)
|
rs200029061
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)
|
rs147538370
|
0.00004
|
|
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp)
|
rs761852278
|
0.00004
|
|
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu)
|
rs776314400
|
0.00004
|
|
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)
|
rs757905943
|
0.00004
|
|
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)
|
rs752338222
|
0.00004
|
|
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu)
|
rs377732201
|
0.00004
|
|
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=)
|
rs755163107
|
0.00004
|
|
NM_001243279.3(ACSF3):c.666+9C>T
|
rs767663198
|
0.00004
|
|
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=)
|
rs377354800
|
0.00004
|
|
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=)
|
rs765643653
|
0.00004
|
|
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)
|
rs746877433
|
0.00004
|
|
NM_001243279.3(ACSF3):c.936C>T (p.His312=)
|
rs202119269
|
0.00004
|
|
NM_001258392.3(CLPB):c.1236G>A (p.Lys412=)
|
rs538912422
|
0.00004
|
|
NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)
|
rs774722200
|
0.00004
|
|
NM_001258392.3(CLPB):c.1605C>T (p.Ile535=)
|
rs758906536
|
0.00004
|
|
NM_001258392.3(CLPB):c.1979G>A (p.Arg660His)
|
rs758613799
|
0.00004
|
|
NM_001258392.3(CLPB):c.51C>A (p.Leu17=)
|
rs371869002
|
0.00004
|
|
NM_001258392.3(CLPB):c.543-20_543-18del
|
rs759265435
|
0.00004
|
|
NM_001258392.3(CLPB):c.628G>A (p.Gly210Arg)
|
rs756161923
|
0.00004
|
|
NM_001258392.3(CLPB):c.646+7371C>T
|
rs369768699
|
0.00004
|
|
NM_001258392.3(CLPB):c.896G>A (p.Arg299His)
|
rs547532550
|
0.00004
|
|
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys)
|
rs542243995
|
0.00004
|
|
NM_001271.4(CHD2):c.1359C>T (p.Ile453=)
|
rs777978644
|
0.00004
|
|
NM_001271.4(CHD2):c.1474C>T (p.Leu492=)
|
rs139149362
|
0.00004
|
|
NM_001271.4(CHD2):c.1809+3G>A
|
rs778257286
|
0.00004
|
|
NM_001271.4(CHD2):c.2601A>G (p.Thr867=)
|
rs145367388
|
0.00004
|
|
NM_001271.4(CHD2):c.3012G>A (p.Thr1004=)
|
rs775751349
|
0.00004
|
|
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln)
|
rs143503275
|
0.00004
|
|
NM_001271.4(CHD2):c.4032T>G (p.Pro1344=)
|
rs547927047
|
0.00004
|
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
|
NM_001271.4(CHD2):c.4458C>T (p.Leu1486=)
|
rs772169751
|
0.00004
|
|
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
|
rs373051961
|
0.00004
|
|
NM_001271.4(CHD2):c.4592+17C>T
|
rs184611897
|
0.00004
|
|
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
|
rs774715709
|
0.00004
|
|
NM_001271.4(CHD2):c.5032C>T (p.Arg1678Trp)
|
rs767024945
|
0.00004
|
|
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln)
|
rs373039868
|
0.00004
|
|
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr)
|
rs747794466
|
0.00004
|
|
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln)
|
rs564787975
|
0.00004
|
|
NM_001271.4(CHD2):c.516A>G (p.Gln172=)
|
rs770631510
|
0.00004
|
|
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=)
|
rs766244767
|
0.00004
|
|
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
|
rs140365508
|
0.00004
|
|
NM_001271.4(CHD2):c.600A>G (p.Gly200=)
|
rs1057522302
|
0.00004
|
|
NM_001271.4(CHD2):c.987A>G (p.Gln329=)
|
rs758605280
|
0.00004
|
|
NM_001278293.3(ARL6):c.147A>T (p.Pro49=)
|
rs570616502
|
0.00004
|
|
NM_001278293.3(ARL6):c.33T>A (p.Leu11=)
|
rs753656245
|
0.00004
|
|
NM_001278293.3(ARL6):c.350A>G (p.Asp117Gly)
|
rs370120886
|
0.00004
|
|
NM_001278293.3(ARL6):c.536-4T>C
|
rs201939836
|
0.00004
|
|
NM_001352514.2(HLCS):c.1621-9A>G
|
rs374646852
|
0.00004
|
|
NM_001352514.2(HLCS):c.1961-7G>C
|
rs145472697
|
0.00004
|
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
|
NM_001352514.2(HLCS):c.2583C>T (p.Phe861=)
|
rs532108774
|
0.00004
|
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
|
NM_001352514.2(HLCS):c.709G>A (p.Asp237Asn)
|
rs780948465
|
0.00004
|
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
|
NM_001370658.1(BTD):c.-46T>C
|
rs374044613
|
0.00004
|
|
NM_001370658.1(BTD):c.1014T>C (p.His338=)
|
rs371365798
|
0.00004
|
|
NM_001370658.1(BTD):c.123C>T (p.Ala41=)
|
rs747945967
|
0.00004
|
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
|
NM_001482.3(GATM):c.1030A>G (p.Ile344Val)
|
rs747608698
|
0.00004
|
|
NM_001482.3(GATM):c.1043-3T>C
|
rs772985563
|
0.00004
|
|
NM_001482.3(GATM):c.1106G>A (p.Arg369His)
|
rs747557239
|
0.00004
|
|
NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)
|
rs374592247
|
0.00004
|
|
NM_001482.3(GATM):c.156T>A (p.Ala52=)
|
rs185569234
|
0.00004
|
|
NM_001482.3(GATM):c.338A>G (p.His113Arg)
|
rs910754475
|
0.00004
|
|
NM_001482.3(GATM):c.485-18A>G
|
rs770332433
|
0.00004
|
|
NM_001482.3(GATM):c.57C>T (p.Tyr19=)
|
rs1052590218
|
0.00004
|
|
NM_001482.3(GATM):c.624C>G (p.Ala208=)
|
rs149853417
|
0.00004
|
|
NM_001482.3(GATM):c.979-19G>T
|
rs575171738
|
0.00004
|
|
NM_001482.3(GATM):c.990C>G (p.Phe330Leu)
|
rs770808654
|
0.00004
|
|
NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)
|
rs201877440
|
0.00004
|
|
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
|
rs374629804
|
0.00004
|
|
NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)
|
rs150022323
|
0.00004
|
|
NM_001609.4(ACADSB):c.510+13G>C
|
rs773089971
|
0.00004
|
|
NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)
|
rs761098384
|
0.00004
|
|
NM_001698.3(AUH):c.117G>C (p.Ser39=)
|
rs759828827
|
0.00004
|
|
NM_001698.3(AUH):c.330+9A>G
|
rs145402420
|
0.00004
|
|
NM_001698.3(AUH):c.374G>A (p.Arg125Gln)
|
rs137939308
|
0.00004
|
|
NM_001698.3(AUH):c.656-2_656-1del
|
rs757748207
|
0.00004
|
|
NM_001698.3(AUH):c.824C>T (p.Ala275Val)
|
rs748318386
|
0.00004
|
|
NM_001698.3(AUH):c.844-20T>C
|
rs769924401
|
0.00004
|
|
NM_001739.2(CA5A):c.164C>T (p.Pro55Leu)
|
rs764182711
|
0.00004
|
|
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
|
rs557776920
|
0.00004
|
|
NM_001739.2(CA5A):c.38C>T (p.Ser13Phe)
|
rs200005306
|
0.00004
|
|
NM_001739.2(CA5A):c.544G>A (p.Val182Met)
|
rs149854962
|
0.00004
|
|
NM_001739.2(CA5A):c.619-7C>T
|
rs558522180
|
0.00004
|
|
NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)
|
rs144744608
|
0.00004
|
|
NM_001739.2(CA5A):c.753C>T (p.Pro251=)
|
rs748576210
|
0.00004
|
|
NM_001875.5(CPS1):c.1131C>T (p.His377=)
|
rs372421311
|
0.00004
|
|
NM_001875.5(CPS1):c.1165-5T>C
|
rs565003226
|
0.00004
|
|
NM_001875.5(CPS1):c.1359+19T>C
|
rs759580115
|
0.00004
|
|
NM_001875.5(CPS1):c.1764C>T (p.Ser588=)
|
rs374071271
|
0.00004
|
|
NM_001875.5(CPS1):c.1929T>C (p.Asn643=)
|
rs367848165
|
0.00004
|
|
NM_001875.5(CPS1):c.2019C>T (p.Ser673=)
|
rs374595822
|
0.00004
|
|
NM_001875.5(CPS1):c.236+15T>C
|
rs538300887
|
0.00004
|
|
NM_001875.5(CPS1):c.2427C>T (p.Phe809=)
|
rs747718128
|
0.00004
|
|
NM_001875.5(CPS1):c.2568+9T>C
|
rs752578602
|
0.00004
|
|
NM_001875.5(CPS1):c.2687+9G>T
|
rs377094467
|
0.00004
|
|
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys)
|
rs748045437
|
0.00004
|
|
NM_001875.5(CPS1):c.3414T>G (p.Ala1138=)
|
rs761875285
|
0.00004
|
|
NM_001875.5(CPS1):c.3667-20G>A
|
rs369845787
|
0.00004
|
|
NM_001875.5(CPS1):c.3756+14A>G
|
rs771430083
|
0.00004
|
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
|
NM_001875.5(CPS1):c.378C>T (p.Ile126=)
|
rs780425393
|
0.00004
|
|
NM_001875.5(CPS1):c.4101+8G>A
|
rs754780089
|
0.00004
|
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
|
NM_001875.5(CPS1):c.472-5T>G
|
rs747103515
|
0.00004
|
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
|
NM_001875.5(CPS1):c.771T>C (p.Asp257=)
|
rs373865114
|
0.00004
|
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
|
NM_001875.5(CPS1):c.819A>G (p.Pro273=)
|
rs140890568
|
0.00004
|
|
NM_001876.4(CPT1A):c.1003G>A (p.Val335Ile)
|
rs112620511
|
0.00004
|
|
NM_001876.4(CPT1A):c.1302G>A (p.Thr434=)
|
rs1424284180
|
0.00004
|
|
NM_001876.4(CPT1A):c.1353-4G>A
|
rs577271875
|
0.00004
|
|
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser)
|
rs552007692
|
0.00004
|
|
NM_001876.4(CPT1A):c.1576-11T>G
|
rs778920950
|
0.00004
|
|
NM_001876.4(CPT1A):c.1644C>T (p.Ser548=)
|
rs775058970
|
0.00004
|
|
NM_001876.4(CPT1A):c.1874C>T (p.Thr625Met)
|
rs142473901
|
0.00004
|
|
NM_001876.4(CPT1A):c.2115C>T (p.Tyr705=)
|
rs149454771
|
0.00004
|
|
NM_001876.4(CPT1A):c.2243A>T (p.His748Leu)
|
rs900349852
|
0.00004
|
|
NM_001876.4(CPT1A):c.466A>G (p.Ile156Val)
|
rs201398937
|
0.00004
|
|
NM_001876.4(CPT1A):c.517C>T (p.Arg173Cys)
|
rs774388890
|
0.00004
|
|
NM_001876.4(CPT1A):c.753C>T (p.Asn251=)
|
rs765615450
|
0.00004
|
|
NM_001876.4(CPT1A):c.772-10C>T
|
rs368790901
|
0.00004
|
|
NM_001876.4(CPT1A):c.772-8C>T
|
rs376651947
|
0.00004
|
|
NM_001876.4(CPT1A):c.929G>A (p.Arg310Gln)
|
rs536671702
|
0.00004
|
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
|
NM_001918.5(DBT):c.1051G>C (p.Glu351Gln)
|
rs142160613
|
0.00004
|
|
NM_001918.5(DBT):c.1143C>G (p.Gly381=)
|
rs1052326198
|
0.00004
|
|
NM_001918.5(DBT):c.1210-10_1210-9del
|
rs794726986
|
0.00004
|
|
NM_001918.5(DBT):c.27C>G (p.Thr9=)
|
rs371418997
|
0.00004
|
|
NM_001918.5(DBT):c.536G>A (p.Arg179His)
|
rs766629953
|
0.00004
|
|
NM_001918.5(DBT):c.562C>T (p.Leu188=)
|
rs370323452
|
0.00004
|
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
|
NM_001918.5(DBT):c.773-17A>C
|
rs144978854
|
0.00004
|
|
NM_001918.5(DBT):c.978C>T (p.Asn326=)
|
rs140659494
|
0.00004
|
|
NM_001958.5(EEF1A2):c.113C>T (p.Thr38Ile)
|
rs781157708
|
0.00004
|
|
NM_001958.5(EEF1A2):c.117T>C (p.Ile39=)
|
rs754859581
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1218G>A (p.Pro406=)
|
rs377632570
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1233T>C (p.Cys411=)
|
rs374077620
|
0.00004
|
|
NM_001958.5(EEF1A2):c.1380G>A (p.Lys460=)
|
rs1295987421
|
0.00004
|
|
NM_001958.5(EEF1A2):c.324+20C>T
|
rs199746748
|
0.00004
|
|
NM_001958.5(EEF1A2):c.351G>A (p.Ala117=)
|
rs148602858
|
0.00004
|
|
NM_001958.5(EEF1A2):c.354G>A (p.Ala118=)
|
rs143957818
|
0.00004
|
|
NM_001958.5(EEF1A2):c.399G>A (p.Thr133=)
|
rs146240185
|
0.00004
|
|
NM_001958.5(EEF1A2):c.513C>A (p.Val171=)
|
rs201149992
|
0.00004
|
|
NM_001958.5(EEF1A2):c.725C>T (p.Thr242Met)
|
rs752137872
|
0.00004
|
|
NM_001958.5(EEF1A2):c.747G>A (p.Pro249=)
|
rs879640448
|
0.00004
|
|
NM_001958.5(EEF1A2):c.771C>T (p.Gly257=)
|
rs1047396966
|
0.00004
|
|
NM_001985.3(ETFB):c.133G>A (p.Ala45Thr)
|
rs151108898
|
0.00004
|
|
NM_001985.3(ETFB):c.257G>C (p.Gly86Ala)
|
rs143568332
|
0.00004
|
|
NM_001985.3(ETFB):c.705C>T (p.Ala235=)
|
rs760012472
|
0.00004
|
|
NM_001985.3(ETFB):c.82G>A (p.Gly28Ser)
|
rs750230877
|
0.00004
|
|
NM_002150.3(HPD):c.199-16T>C
|
rs200721174
|
0.00004
|
|
NM_002150.3(HPD):c.4-19del
|
rs562067458
|
0.00004
|
|
NM_002150.3(HPD):c.531T>C (p.Ser177=)
|
rs113922752
|
0.00004
|
|
NM_002150.3(HPD):c.544G>A (p.Asp182Asn)
|
rs750446552
|
0.00004
|
|
NM_002150.3(HPD):c.61T>C (p.Ser21Pro)
|
rs776782918
|
0.00004
|
|
NM_002150.3(HPD):c.634G>A (p.Val212Met)
|
rs780501941
|
0.00004
|
|
NM_002150.3(HPD):c.882G>A (p.Thr294=)
|
rs200038783
|
0.00004
|
|
NM_002150.3(HPD):c.915G>A (p.Thr305=)
|
rs751753975
|
0.00004
|
|
NM_002150.3(HPD):c.966C>A (p.Ile322=)
|
rs908075187
|
0.00004
|
|
NM_002225.5(IVD):c.1005G>A (p.Ala335=)
|
rs570369496
|
0.00004
|
|
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
|
rs371770434
|
0.00004
|
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
|
NM_002225.5(IVD):c.784+20G>A
|
rs375795386
|
0.00004
|
|
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)
|
rs1183944927
|
0.00004
|
|
NM_002454.3(MTRR):c.1095T>C (p.Ser365=)
|
rs1490381537
|
0.00004
|
|
NM_002454.3(MTRR):c.1147-16G>A
|
rs143842562
|
0.00004
|
|
NM_002454.3(MTRR):c.1362G>A (p.Ser454=)
|
rs370978510
|
0.00004
|
|
NM_002454.3(MTRR):c.1557+18T>C
|
rs367589908
|
0.00004
|
|
NM_002454.3(MTRR):c.1677-8C>T
|
rs750976454
|
0.00004
|
|
NM_002454.3(MTRR):c.1677-9T>C
|
rs200734299
|
0.00004
|
|
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=)
|
rs143418731
|
0.00004
|
|
NM_002454.3(MTRR):c.2073C>T (p.Arg691=)
|
rs768387137
|
0.00004
|
|
NM_002454.3(MTRR):c.209G>A (p.Arg70His)
|
rs777202031
|
0.00004
|
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
|
NM_002454.3(MTRR):c.283+13C>G
|
rs368391537
|
0.00004
|
|
NM_002454.3(MTRR):c.402-19G>A
|
rs192942300
|
0.00004
|
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
0.00004
|
|
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)
|
rs201557658
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1014C>T (p.His338=)
|
rs150056435
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1078+17A>G
|
rs745857450
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1112G>A (p.Arg371Gln)
|
rs745614904
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1368C>T (p.Arg456=)
|
rs369979669
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1393G>A (p.Glu465Lys)
|
rs757876226
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1485C>T (p.Ile495=)
|
rs777125038
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.169C>A (p.His57Asn)
|
rs200858692
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1800A>G (p.Leu600=)
|
rs141192935
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.1865G>A (p.Arg622Gln)
|
rs774274057
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2206+17T>C
|
rs200513474
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.2276C>T (p.Thr759Ile)
|
rs781126562
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.240C>T (p.Ala80=)
|
rs1016828034
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.27G>C (p.Gly9=)
|
rs368431558
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.304-3C>T
|
rs188362786
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.357C>T (p.Ala119=)
|
rs767594147
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.429G>A (p.Ser143=)
|
rs745705105
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.847C>T (p.Leu283Phe)
|
rs747291828
|
0.00004
|
|
NM_002860.4(ALDH18A1):c.88C>T (p.His30Tyr)
|
rs113678237
|
0.00004
|
|
NM_003042.4(SLC6A1):c.1317C>T (p.Ile439=)
|
rs918740589
|
0.00004
|
|
NM_003042.4(SLC6A1):c.1425C>T (p.Tyr475=)
|
rs201643896
|
0.00004
|
|
NM_003042.4(SLC6A1):c.1527+16G>A
|
rs189002557
|
0.00004
|
|
NM_003042.4(SLC6A1):c.1528-18C>T
|
rs754211094
|
0.00004
|
|
NM_003042.4(SLC6A1):c.1696-4A>G
|
rs773416770
|
0.00004
|
|
NM_003042.4(SLC6A1):c.318G>A (p.Gln106=)
|
rs370359077
|
0.00004
|
|
NM_003042.4(SLC6A1):c.384G>A (p.Ala128=)
|
rs2272404
|
0.00004
|
|
NM_003042.4(SLC6A1):c.45C>T (p.Thr15=)
|
rs761463345
|
0.00004
|
|
NM_003042.4(SLC6A1):c.492C>T (p.Cys164=)
|
rs151263329
|
0.00004
|
|
NM_003042.4(SLC6A1):c.582-7T>G
|
rs201191000
|
0.00004
|
|
NM_003042.4(SLC6A1):c.850-4A>G
|
rs780311335
|
0.00004
|
|
NM_003042.4(SLC6A1):c.885A>T (p.Ser295=)
|
rs563719346
|
0.00004
|
|
NM_003042.4(SLC6A1):c.888C>T (p.Tyr296=)
|
rs144034291
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1007G>A (p.Arg336Gln)
|
rs759529143
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1017T>C (p.Asn339=)
|
rs758572818
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1053-10T>C
|
rs377069432
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1086G>A (p.Ser362=)
|
rs764371993
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1101C>T (p.Asn367=)
|
rs1012487647
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=)
|
rs200637508
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1140G>A (p.Ala380=)
|
rs375679167
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1296G>C (p.Val432=)
|
rs755533900
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys)
|
rs386134221
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1450+18A>G
|
rs11568516
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1453G>A (p.Ala485Thr)
|
rs145147616
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1547C>G (p.Pro516Arg)
|
rs563142575
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1587-15T>A
|
rs762259659
|
0.00004
|
|
NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val)
|
rs764068991
|
0.00004
|
|
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=)
|
rs377767448
|
0.00004
|
|
NM_003060.4(SLC22A5):c.498-3C>T
|
rs1483610184
|
0.00004
|
|
NM_003060.4(SLC22A5):c.591C>T (p.Val197=)
|
rs113656768
|
0.00004
|
|
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His)
|
rs185551386
|
0.00004
|
|
NM_003060.4(SLC22A5):c.769C>T (p.Arg257Trp)
|
rs386134203
|
0.00004
|
|
NM_003060.4(SLC22A5):c.811G>A (p.Val271Met)
|
rs143013773
|
0.00004
|
|
NM_003748.4(ALDH4A1):c.454-18C>T
|
rs557911088
|
0.00004
|
|
NM_003748.4(ALDH4A1):c.462C>T (p.Thr154=)
|
rs372535998
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1229G>A (p.Arg410Gln)
|
rs368317701
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1246-12C>T
|
rs573454071
|
0.00004
|
|
NM_003982.4(SLC7A7):c.126C>T (p.Gly42=)
|
rs773097626
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1349C>T (p.Ala450Val)
|
rs141632828
|
0.00004
|
|
NM_003982.4(SLC7A7):c.1362G>C (p.Leu454=)
|
rs143853134
|
0.00004
|
|
NM_003982.4(SLC7A7):c.241C>T (p.Leu81Phe)
|
rs371860097
|
0.00004
|
|
NM_003982.4(SLC7A7):c.349T>G (p.Phe117Val)
|
rs748090602
|
0.00004
|
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
|
NM_003982.4(SLC7A7):c.591G>T (p.Ala197=)
|
rs750720946
|
0.00004
|
|
NM_003982.4(SLC7A7):c.625+1G>A
|
rs386833822
|
0.00004
|
|
NM_004408.4(DNM1):c.1128+11C>G
|
rs761415279
|
0.00004
|
|
NM_004408.4(DNM1):c.1422+9C>T
|
rs760832551
|
0.00004
|
|
NM_004408.4(DNM1):c.1493+16G>C
|
rs746358072
|
0.00004
|
|
NM_004408.4(DNM1):c.2238C>T (p.Asn746=)
|
rs1057521629
|
0.00004
|
|
NM_004408.4(DNM1):c.2535-20G>C
|
rs753705712
|
0.00004
|
|
NM_004408.4(DNM1):c.386-19C>G
|
rs772469890
|
0.00004
|
|
NM_004408.4(DNM1):c.589+10C>T
|
rs987855255
|
0.00004
|
|
NM_004408.4(DNM1):c.589+15G>A
|
rs535456711
|
0.00004
|
|
NM_004408.4(DNM1):c.850-18C>T
|
rs763158060
|
0.00004
|
|
NM_004408.4(DNM1):c.850-8A>G
|
rs750891102
|
0.00004
|
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
|
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)
|
rs558005496
|
0.00004
|
|
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)
|
rs746598421
|
0.00004
|
|
NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln)
|
rs771456968
|
0.00004
|
|
NM_004453.4(ETFDH):c.1657T>C (p.Tyr553His)
|
rs182913453
|
0.00004
|
|
NM_004453.4(ETFDH):c.1659T>C (p.Tyr553=)
|
rs1333454413
|
0.00004
|
|
NM_004453.4(ETFDH):c.1690+4A>G
|
rs752590057
|
0.00004
|
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
|
NM_004453.4(ETFDH):c.285A>G (p.Glu95=)
|
rs201268972
|
0.00004
|
|
NM_004453.4(ETFDH):c.406-1G>A
|
rs750189181
|
0.00004
|
|
NM_004453.4(ETFDH):c.488-12A>C
|
rs180889150
|
0.00004
|
|
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys)
|
rs762928354
|
0.00004
|
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
|
NM_004483.5(GCSH):c.196A>T (p.Ile66Phe)
|
rs368716465
|
0.00004
|
|
NM_004483.5(GCSH):c.228+8A>C
|
rs375928222
|
0.00004
|
|
NM_004483.5(GCSH):c.425-18G>A
|
rs200332491
|
0.00004
|
|
NM_004577.4(PSPH):c.398A>G (p.Asn133Ser)
|
rs148469975
|
0.00004
|
|
NM_004577.4(PSPH):c.447G>A (p.Thr149=)
|
rs143341199
|
0.00004
|
|
NM_004577.4(PSPH):c.570+5G>C
|
rs373367280
|
0.00004
|
|
NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)
|
rs121908127
|
0.00004
|
|
NM_004937.3(CTNS):c.1035C>T (p.Phe345=)
|
rs149007536
|
0.00004
|
|
NM_004937.3(CTNS):c.1038C>T (p.Asp346=)
|
rs771450572
|
0.00004
|
|
NM_004937.3(CTNS):c.1083G>A (p.Pro361=)
|
rs371189196
|
0.00004
|
|
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)
|
rs113875421
|
0.00004
|
|
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)
|
rs764372178
|
0.00004
|
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
|
NM_004937.3(CTNS):c.510C>T (p.Phe170=)
|
rs747488464
|
0.00004
|
|
NM_004937.3(CTNS):c.562-16C>T
|
rs776712980
|
0.00004
|
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
|
NM_004937.3(CTNS):c.635C>T (p.Ala212Val)
|
rs776658046
|
0.00004
|
|
NM_004937.3(CTNS):c.66A>C (p.Ser22=)
|
rs748125070
|
0.00004
|
|
NM_004937.3(CTNS):c.682-9C>T
|
rs943621505
|
0.00004
|
|
NM_004937.3(CTNS):c.69C>T (p.Ser23=)
|
rs142642362
|
0.00004
|
|
NM_004937.3(CTNS):c.730G>A (p.Ala244Thr)
|
rs559490847
|
0.00004
|
|
NM_004937.3(CTNS):c.852+8C>T
|
rs780856527
|
0.00004
|
|
NM_004937.3(CTNS):c.853-5C>T
|
rs979289719
|
0.00004
|
|
NM_004937.3(CTNS):c.921C>T (p.Thr307=)
|
rs117654723
|
0.00004
|
|
NM_004937.3(CTNS):c.970+5G>A
|
rs753451110
|
0.00004
|
|
NM_004974.4(KCNA2):c.1050G>A (p.Glu350=)
|
rs771963870
|
0.00004
|
|
NM_004974.4(KCNA2):c.1061G>A (p.Arg354Gln)
|
rs374827915
|
0.00004
|
|
NM_004974.4(KCNA2):c.1179A>G (p.Leu393=)
|
rs549281059
|
0.00004
|
|
NM_004974.4(KCNA2):c.168G>A (p.Glu56=)
|
rs768793748
|
0.00004
|
|
NM_004974.4(KCNA2):c.318A>G (p.Leu106=)
|
rs763135225
|
0.00004
|
|
NM_004974.4(KCNA2):c.840C>T (p.Asp280=)
|
rs571429123
|
0.00004
|
|
NM_004974.4(KCNA2):c.972C>T (p.Ser324=)
|
rs765820644
|
0.00004
|
|
NM_004975.4(KCNB1):c.1336G>A (p.Val446Ile)
|
rs776968332
|
0.00004
|
|
NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr)
|
rs145421532
|
0.00004
|
|
NM_004975.4(KCNB1):c.1622C>A (p.Ser541Tyr)
|
rs374460751
|
0.00004
|
|
NM_004975.4(KCNB1):c.1879C>T (p.Arg627Trp)
|
rs554351105
|
0.00004
|
|
NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp)
|
rs779379680
|
0.00004
|
|
NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln)
|
rs1449919002
|
0.00004
|
|
NM_004975.4(KCNB1):c.210C>G (p.Leu70=)
|
rs1460995367
|
0.00004
|
|
NM_004975.4(KCNB1):c.2376G>A (p.Ser792=)
|
rs750105922
|
0.00004
|
|
NM_004975.4(KCNB1):c.2456C>T (p.Ala819Val)
|
rs777645076
|
0.00004
|
|
NM_004975.4(KCNB1):c.2561G>A (p.Arg854Gln)
|
rs764648709
|
0.00004
|
|
NM_004975.4(KCNB1):c.375C>T (p.Asp125=)
|
rs201414449
|
0.00004
|
|
NM_004975.4(KCNB1):c.568-5C>T
|
rs185995580
|
0.00004
|
|
NM_004975.4(KCNB1):c.594C>T (p.Phe198=)
|
rs375779334
|
0.00004
|
|
NM_004975.4(KCNB1):c.651C>T (p.Leu217=)
|
rs537777787
|
0.00004
|
|
NM_004975.4(KCNB1):c.840C>T (p.Thr280=)
|
rs748523037
|
0.00004
|
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
|
NM_005050.4(ABCD4):c.1327+8C>T
|
rs199678602
|
0.00004
|
|
NM_005050.4(ABCD4):c.1752+7G>A
|
rs376322555
|
0.00004
|
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
|
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
|
rs139683556
|
0.00004
|
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
0.00004
|
|
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
|
rs1313982001
|
0.00004
|
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
|
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
|
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
|
rs782410390
|
0.00004
|
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
|
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)
|
rs782064674
|
0.00004
|
|
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)
|
rs782369645
|
0.00004
|
|
NM_005334.3(HCFC1):c.6004+14G>A
|
rs371228352
|
0.00004
|
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
|
NM_005518.4(HMGCS2):c.1161C>T (p.Tyr387=)
|
rs756169207
|
0.00004
|
|
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)
|
rs137852637
|
0.00004
|
|
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs)
|
rs1553241079
|
0.00004
|
|
NM_005518.4(HMGCS2):c.35T>A (p.Leu12Gln)
|
rs939049952
|
0.00004
|
|
NM_005518.4(HMGCS2):c.501C>T (p.Tyr167=)
|
rs758839673
|
0.00004
|
|
NM_005518.4(HMGCS2):c.50C>T (p.Ala17Val)
|
rs587712415
|
0.00004
|
|
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu)
|
rs137852636
|
0.00004
|
|
NM_005518.4(HMGCS2):c.595G>A (p.Val199Ile)
|
rs150140061
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1146G>A (p.Pro382=)
|
rs782627741
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1245C>T (p.Leu415=)
|
rs782030501
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1313A>T (p.Tyr438Phe)
|
rs1403716189
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1392+12G>T
|
rs782113493
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile)
|
rs782354054
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1632G>A (p.Pro544=)
|
rs782393373
|
0.00004
|
|
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met)
|
rs2872524
|
0.00004
|
|
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile)
|
rs782040427
|
0.00004
|
|
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=)
|
rs781983557
|
0.00004
|
|
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=)
|
rs781807737
|
0.00004
|
|
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=)
|
rs782517934
|
0.00004
|
|
NM_005881.4(BCKDK):c.262C>T (p.Leu88=)
|
rs141938310
|
0.00004
|
|
NM_005957.5(MTHFR):c.1004G>A (p.Arg335His)
|
rs543016186
|
0.00004
|
|
NM_005957.5(MTHFR):c.1065C>A (p.Pro355=)
|
rs1156478570
|
0.00004
|
|
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys)
|
rs121434296
|
0.00004
|
|
NM_005957.5(MTHFR):c.1130G>A (p.Arg377His)
|
rs750323424
|
0.00004
|
|
NM_005957.5(MTHFR):c.1134C>T (p.Thr378=)
|
rs767306503
|
0.00004
|
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
|
NM_005957.5(MTHFR):c.155G>A (p.Arg52Gln)
|
rs754980119
|
0.00004
|
|
NM_005957.5(MTHFR):c.1722A>T (p.Val574=)
|
rs936532190
|
0.00004
|
|
NM_005957.5(MTHFR):c.336C>T (p.Ile112=)
|
rs777803896
|
0.00004
|
|
NM_005957.5(MTHFR):c.607G>A (p.Glu203Lys)
|
rs1018203291
|
0.00004
|
|
NM_005957.5(MTHFR):c.681G>A (p.Thr227=)
|
rs774825800
|
0.00004
|
|
NM_005957.5(MTHFR):c.700G>A (p.Asp234Asn)
|
rs45589033
|
0.00004
|
|
NM_005957.5(MTHFR):c.90G>A (p.Ser30=)
|
rs765167328
|
0.00004
|
|
NM_006623.4(PHGDH):c.1078+3G>A
|
rs755057495
|
0.00004
|
|
NM_006623.4(PHGDH):c.1116C>T (p.Pro372=)
|
rs587662790
|
0.00004
|
|
NM_006623.4(PHGDH):c.1128C>T (p.Val376=)
|
rs199677303
|
0.00004
|
|
NM_006623.4(PHGDH):c.1176C>T (p.Asn392=)
|
rs764196357
|
0.00004
|
|
NM_006623.4(PHGDH):c.1209+3G>C
|
rs771825779
|
0.00004
|
|
NM_006623.4(PHGDH):c.1254C>T (p.Phe418=)
|
rs763258512
|
0.00004
|
|
NM_006623.4(PHGDH):c.1575G>T (p.Val525=)
|
rs587681898
|
0.00004
|
|
NM_006623.4(PHGDH):c.412-6T>C
|
rs762278325
|
0.00004
|
|
NM_006623.4(PHGDH):c.514A>G (p.Ile172Val)
|
rs749677150
|
0.00004
|
|
NM_006859.4(LIAS):c.1066+20A>G
|
rs748825373
|
0.00004
|
|
NM_006859.4(LIAS):c.114C>G (p.Leu38=)
|
rs750439302
|
0.00004
|
|
NM_006859.4(LIAS):c.27C>A (p.Ala9=)
|
rs553110956
|
0.00004
|
|
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)
|
rs747124026
|
0.00004
|
|
NM_006859.4(LIAS):c.737+9G>A
|
rs750744754
|
0.00004
|
|
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
|
rs367701436
|
0.00004
|
|
NM_012213.3(MLYCD):c.1203G>A (p.Leu401=)
|
rs200341673
|
0.00004
|
|
NM_012213.3(MLYCD):c.12C>T (p.Phe4=)
|
rs1027854085
|
0.00004
|
|
NM_012213.3(MLYCD):c.1345G>A (p.Gly449Ser)
|
rs752955481
|
0.00004
|
|
NM_012213.3(MLYCD):c.1350G>A (p.Leu450=)
|
rs752170020
|
0.00004
|
|
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu)
|
rs891464883
|
0.00004
|
|
NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter)
|
rs104894528
|
0.00004
|
|
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala)
|
rs200365808
|
0.00004
|
|
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro)
|
rs199761233
|
0.00004
|
|
NM_012213.3(MLYCD):c.933C>T (p.Val311=)
|
rs757687650
|
0.00004
|
|
NM_012213.3(MLYCD):c.948+10A>G
|
rs372958512
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1231-1G>A
|
rs781452100
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn)
|
rs553863381
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1475G>A (p.Arg492Gln)
|
rs769939259
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1638G>A (p.Thr546=)
|
rs143706021
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1722A>G (p.Gly574=)
|
rs760315798
|
0.00004
|
|
NM_014251.3(SLC25A13):c.1770A>T (p.Ser590=)
|
rs769993871
|
0.00004
|
|
NM_014251.3(SLC25A13):c.421G>A (p.Glu141Lys)
|
rs1131697
|
0.00004
|
|
NM_014251.3(SLC25A13):c.615+8G>A
|
rs557575818
|
0.00004
|
|
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=)
|
rs536354947
|
0.00004
|
|
NM_014252.4(SLC25A15):c.334G>A (p.Ala112Thr)
|
rs747998866
|
0.00004
|
|
NM_014252.4(SLC25A15):c.576A>G (p.Glu192=)
|
rs774514708
|
0.00004
|
|
NM_014252.4(SLC25A15):c.751A>G (p.Arg251Gly)
|
rs746683247
|
0.00004
|
|
NM_014252.4(SLC25A15):c.782-18C>T
|
rs183166413
|
0.00004
|
|
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile)
|
rs121908535
|
0.00004
|
|
NM_014362.4(HIBCH):c.550T>C (p.Leu184=)
|
rs777785491
|
0.00004
|
|
NM_014384.3(ACAD8):c.1004A>G (p.Asn335Ser)
|
rs768954546
|
0.00004
|
|
NM_014384.3(ACAD8):c.1147G>A (p.Ala383Thr)
|
rs200234092
|
0.00004
|
|
NM_014384.3(ACAD8):c.409G>A (p.Gly137Arg)
|
rs371449613
|
0.00004
|
|
NM_014384.3(ACAD8):c.615C>T (p.Cys205=)
|
rs200275294
|
0.00004
|
|
NM_014384.3(ACAD8):c.965T>C (p.Met322Thr)
|
rs577976129
|
0.00004
|
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
|
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)
|
rs1035201847
|
0.00004
|
|
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
|
rs141562335
|
0.00004
|
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
|
NM_015509.4(NECAP1):c.492+3G>A
|
rs368777299
|
0.00004
|
|
NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu)
|
rs764080699
|
0.00004
|
|
NM_015509.4(NECAP1):c.95+9C>T
|
rs199764142
|
0.00004
|
|
NM_015662.3(IFT172):c.1100G>A (p.Arg367His)
|
rs755263642
|
0.00004
|
|
NM_015662.3(IFT172):c.112C>T (p.Arg38Ter)
|
rs139021548
|
0.00004
|
|
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln)
|
rs137868356
|
0.00004
|
|
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly)
|
rs779907319
|
0.00004
|
|
NM_015662.3(IFT172):c.1326-17C>T
|
rs969211942
|
0.00004
|
|
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp)
|
rs779152335
|
0.00004
|
|
NM_015662.3(IFT172):c.1524+7A>G
|
rs149896944
|
0.00004
|
|
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys)
|
rs148710037
|
0.00004
|
|
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg)
|
rs762521619
|
0.00004
|
|
NM_015662.3(IFT172):c.1791C>T (p.Ile597=)
|
rs747273253
|
0.00004
|
|
NM_015662.3(IFT172):c.184-6T>A
|
rs371658303
|
0.00004
|
|
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val)
|
rs370407165
|
0.00004
|
|
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp)
|
rs201921339
|
0.00004
|
|
NM_015662.3(IFT172):c.2222G>A (p.Arg741His)
|
rs1011923461
|
0.00004
|
|
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys)
|
rs201991482
|
0.00004
|
|
NM_015662.3(IFT172):c.2443-3C>T
|
rs774328767
|
0.00004
|
|
NM_015662.3(IFT172):c.2787+10A>G
|
rs199842476
|
0.00004
|
|
NM_015662.3(IFT172):c.2818C>T (p.Arg940Trp)
|
rs760316903
|
0.00004
|
|
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys)
|
rs762645007
|
0.00004
|
|
NM_015662.3(IFT172):c.2943G>A (p.Met981Ile)
|
rs779195226
|
0.00004
|
|
NM_015662.3(IFT172):c.318C>T (p.Cys106=)
|
rs772983278
|
0.00004
|
|
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)
|
rs76076247
|
0.00004
|
|
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=)
|
rs566100277
|
0.00004
|
|
NM_015662.3(IFT172):c.3566G>A (p.Arg1189His)
|
rs367806691
|
0.00004
|
|
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys)
|
rs369191459
|
0.00004
|
|
NM_015662.3(IFT172):c.4311+5T>C
|
rs756624999
|
0.00004
|
|
NM_015662.3(IFT172):c.4407C>T (p.His1469=)
|
rs761583320
|
0.00004
|
|
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys)
|
rs557292146
|
0.00004
|
|
NM_015662.3(IFT172):c.4628C>T (p.Thr1543Met)
|
rs571220836
|
0.00004
|
|
NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val)
|
rs757464563
|
0.00004
|
|
NM_015662.3(IFT172):c.4755+11del
|
rs775669156
|
0.00004
|
|
NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)
|
rs115716101
|
0.00004
|
|
NM_015662.3(IFT172):c.4816-6C>T
|
rs367782557
|
0.00004
|
|
NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)
|
rs750991615
|
0.00004
|
|
NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)
|
rs201017771
|
0.00004
|
|
NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp)
|
rs560831644
|
0.00004
|
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
|
NM_015662.3(IFT172):c.571-10T>C
|
rs753921843
|
0.00004
|
|
NM_015662.3(IFT172):c.861C>T (p.Tyr287=)
|
rs148906663
|
0.00004
|
|
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala)
|
rs749612277
|
0.00004
|
|
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys)
|
rs370874046
|
0.00004
|
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
|
NM_016335.6(PRODH):c.518-11C>T
|
rs112526442
|
0.00004
|
|
NM_016579.4(CD320):c.333C>T (p.Thr111=)
|
rs540057476
|
0.00004
|
|
NM_016579.4(CD320):c.497G>T (p.Gly166Val)
|
rs769438880
|
0.00004
|
|
NM_016579.4(CD320):c.657C>T (p.Ala219=)
|
rs368089898
|
0.00004
|
|
NM_016579.4(CD320):c.760C>T (p.Arg254Ter)
|
rs750760449
|
0.00004
|
|
NM_016579.4(CD320):c.88G>C (p.Gly30Arg)
|
rs1314256093
|
0.00004
|
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=)
|
rs779802824
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)
|
rs751525924
|
0.00004
|
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
|
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)
|
rs139154326
|
0.00004
|
|
NM_018368.4(LMBRD1):c.562+19A>T
|
rs200488577
|
0.00004
|
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
|
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
|
rs529198629
|
0.00004
|
|
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)
|
rs766287809
|
0.00004
|
|
NM_018706.7(DHTKD1):c.1551G>A (p.Ala517=)
|
rs112910106
|
0.00004
|
|
NM_018706.7(DHTKD1):c.1650C>T (p.His550=)
|
rs375209596
|
0.00004
|
|
NM_018706.7(DHTKD1):c.1721C>T (p.Ala574Val)
|
rs757993723
|
0.00004
|
|
NM_018706.7(DHTKD1):c.2154+11C>T
|
rs771483975
|
0.00004
|
|
NM_018706.7(DHTKD1):c.2239C>T (p.His747Tyr)
|
rs539692445
|
0.00004
|
|
NM_018706.7(DHTKD1):c.2251A>C (p.Arg751=)
|
rs781551352
|
0.00004
|
|
NM_018706.7(DHTKD1):c.2332A>G (p.Thr778Ala)
|
rs138115346
|
0.00004
|
|
NM_018706.7(DHTKD1):c.2629C>G (p.Pro877Ala)
|
rs762777348
|
0.00004
|
|
NM_018706.7(DHTKD1):c.446G>A (p.Arg149Gln)
|
rs773052090
|
0.00004
|
|
NM_018706.7(DHTKD1):c.576C>T (p.Gly192=)
|
rs543081107
|
0.00004
|
|
NM_018706.7(DHTKD1):c.627G>A (p.Ser209=)
|
rs745332525
|
0.00004
|
|
NM_018706.7(DHTKD1):c.636C>T (p.Ser212=)
|
rs772308172
|
0.00004
|
|
NM_018706.7(DHTKD1):c.876C>T (p.Ala292=)
|
rs556079764
|
0.00004
|
|
NM_018706.7(DHTKD1):c.962C>T (p.Pro321Leu)
|
rs755528865
|
0.00004
|
|
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
|
rs140579569
|
0.00004
|
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
|
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=)
|
rs373049854
|
0.00004
|
|
NM_020166.5(MCCC1):c.136+7A>G
|
rs559629034
|
0.00004
|
|
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu)
|
rs199517715
|
0.00004
|
|
NM_020166.5(MCCC1):c.165A>G (p.Ala55=)
|
rs373199843
|
0.00004
|
|
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=)
|
rs377320336
|
0.00004
|
|
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
|
rs143892743
|
0.00004
|
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
|
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)
|
rs762463914
|
0.00004
|
|
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln)
|
rs780352053
|
0.00004
|
|
NM_020166.5(MCCC1):c.66C>T (p.Leu22=)
|
rs750778690
|
0.00004
|
|
NM_020686.6(ABAT):c.1241C>T (p.Ala414Val)
|
rs771801237
|
0.00004
|
|
NM_020686.6(ABAT):c.1254A>T (p.Gly418=)
|
rs140640183
|
0.00004
|
|
NM_020686.6(ABAT):c.1307G>A (p.Arg436Gln)
|
rs764665721
|
0.00004
|
|
NM_020686.6(ABAT):c.1387G>A (p.Val463Met)
|
rs757912430
|
0.00004
|
|
NM_020686.6(ABAT):c.19G>A (p.Ala7Thr)
|
rs141213694
|
0.00004
|
|
NM_020686.6(ABAT):c.316+3A>G
|
rs376810382
|
0.00004
|
|
NM_020686.6(ABAT):c.370A>G (p.Met124Val)
|
rs370414705
|
0.00004
|
|
NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)
|
rs375337638
|
0.00004
|
|
NM_020686.6(ABAT):c.510C>T (p.Asn170=)
|
rs141981377
|
0.00004
|
|
NM_020686.6(ABAT):c.555G>A (p.Gly185=)
|
rs147765799
|
0.00004
|
|
NM_020686.6(ABAT):c.667+18C>T
|
rs756875305
|
0.00004
|
|
NM_020686.6(ABAT):c.801C>T (p.Ala267=)
|
rs377220277
|
0.00004
|
|
NM_020686.6(ABAT):c.816+18C>T
|
rs770606061
|
0.00004
|
|
NM_020686.6(ABAT):c.817-15C>A
|
rs761188607
|
0.00004
|
|
NM_020686.6(ABAT):c.928C>T (p.Arg310Trp)
|
rs757076760
|
0.00004
|
|
NM_020686.6(ABAT):c.963C>T (p.Cys321=)
|
rs375537349
|
0.00004
|
|
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
|
rs753784414
|
0.00004
|
|
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)
|
rs119103224
|
0.00004
|
|
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)
|
rs750965429
|
0.00004
|
|
NM_022132.5(MCCC2):c.1488+3C>T
|
rs374049769
|
0.00004
|
|
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=)
|
rs765801018
|
0.00004
|
|
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu)
|
rs1257849672
|
0.00004
|
|
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
|
rs768354167
|
0.00004
|
|
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
|
rs751970792
|
0.00004
|
|
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
|
rs770437473
|
0.00004
|
|
NM_022132.5(MCCC2):c.418G>A (p.Val140Ile)
|
rs553444289
|
0.00004
|
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
|
NM_022132.5(MCCC2):c.999+16A>G
|
rs1241526106
|
0.00004
|
|
NM_025136.4(OPA3):c.303C>T (p.Tyr101=)
|
rs752010426
|
0.00004
|
|
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu)
|
rs755348694
|
0.00004
|
|
NM_030813.6(CLPB):c.703G>T (p.Glu235Ter)
|
rs374473067
|
0.00004
|
|
NM_030813.6(CLPB):c.715T>C (p.Trp239Arg)
|
rs746357833
|
0.00004
|
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
|
NM_032601.4(MCEE):c.304T>C (p.Leu102=)
|
rs767011431
|
0.00004
|
|
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=)
|
rs201331072
|
0.00004
|
|
NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)
|
rs756639108
|
0.00004
|
|
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
|
rs770661156
|
0.00004
|
|
NM_032861.4(SERAC1):c.355+10C>T
|
rs760497677
|
0.00004
|
|
NM_032861.4(SERAC1):c.413G>A (p.Arg138Gln)
|
rs863224200
|
0.00004
|
|
NM_032861.4(SERAC1):c.524C>T (p.Pro175Leu)
|
rs536508664
|
0.00004
|
|
NM_032861.4(SERAC1):c.553G>A (p.Glu185Lys)
|
rs543967244
|
0.00004
|
|
NM_032861.4(SERAC1):c.660A>G (p.Gln220=)
|
rs776026202
|
0.00004
|
|
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
|
rs375757326
|
0.00004
|
|
NM_032861.4(SERAC1):c.69T>G (p.Ser23Arg)
|
rs754908475
|
0.00004
|
|
NM_032861.4(SERAC1):c.855A>G (p.Ile285Met)
|
rs745441822
|
0.00004
|
|
NM_032861.4(SERAC1):c.92-16T>C
|
rs201656768
|
0.00004
|
|
NM_032861.4(SERAC1):c.999T>C (p.Ser333=)
|
rs746668292
|
0.00004
|
|
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
|
rs752857938
|
0.00004
|
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
|
NM_052845.4(MMAB):c.348+17C>T
|
rs202141416
|
0.00004
|
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
|
NM_052845.4(MMAB):c.52C>A (p.Leu18Met)
|
rs374802787
|
0.00004
|
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
|
NM_054012.4(ASS1):c.105+10C>T
|
rs1010509460
|
0.00004
|
|
NM_054012.4(ASS1):c.1059C>T (p.Val353=)
|
rs759769412
|
0.00004
|
|
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp)
|
rs121908640
|
0.00004
|
|
NM_054012.4(ASS1):c.142A>G (p.Arg48Gly)
|
rs374695792
|
0.00004
|
|
NM_054012.4(ASS1):c.348C>T (p.His116=)
|
rs770688393
|
0.00004
|
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
|
NM_054012.4(ASS1):c.421-8A>C
|
rs764424984
|
0.00004
|
|
NM_054012.4(ASS1):c.469C>T (p.Arg157Cys)
|
rs770585183
|
0.00004
|
|
NM_054012.4(ASS1):c.533C>T (p.Pro178Leu)
|
rs768846877
|
0.00004
|
|
NM_054012.4(ASS1):c.564C>T (p.Ile188=)
|
rs2297599
|
0.00004
|
|
NM_054012.4(ASS1):c.566+11C>T
|
rs200527708
|
0.00004
|
|
NM_054012.4(ASS1):c.796A>G (p.Ile266Val)
|
rs377221825
|
0.00004
|
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
|
NM_054012.4(ASS1):c.892del (p.Glu298fs)
|
rs770362721
|
0.00004
|
|
NM_054012.4(ASS1):c.90C>T (p.Asp30=)
|
rs371519061
|
0.00004
|
|
NM_058179.4(PSAT1):c.1031C>G (p.Ser344Cys)
|
rs370557155
|
0.00004
|
|
NM_058179.4(PSAT1):c.122-9C>G
|
rs1238498437
|
0.00004
|
|
NM_058179.4(PSAT1):c.231A>T (p.Gly77=)
|
rs762436279
|
0.00004
|
|
NM_058179.4(PSAT1):c.291G>A (p.Arg97=)
|
rs113759812
|
0.00004
|
|
NM_058179.4(PSAT1):c.725C>T (p.Thr242Met)
|
rs149101687
|
0.00004
|
|
NM_058179.4(PSAT1):c.792C>T (p.Ala264=)
|
rs371935677
|
0.00004
|
|
NM_058179.4(PSAT1):c.794C>T (p.Ala265Val)
|
rs376602543
|
0.00004
|
|
NM_058179.4(PSAT1):c.845T>C (p.Ile282Thr)
|
rs774644137
|
0.00004
|
|
NM_145261.4(DNAJC19):c.181C>T (p.Arg61Trp)
|
rs141007488
|
0.00004
|
|
NM_145261.4(DNAJC19):c.280+1G>A
|
rs774006022
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
|
rs369280586
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)
|
rs766835582
|
0.00004
|
|
NM_152419.3(HGSNAT):c.118+17T>C
|
rs912987473
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1250+6C>T
|
rs762012939
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=)
|
rs752420375
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)
|
rs756310864
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
|
rs553588867
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
|
rs754415813
|
0.00004
|
|
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
|
rs772611068
|
0.00004
|
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
|
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=)
|
rs752466254
|
0.00004
|
|
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly)
|
rs373688314
|
0.00004
|
|
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
|
rs201952563
|
0.00004
|
|
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg)
|
rs751331792
|
0.00004
|
|
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
|
rs1000820440
|
0.00004
|
|
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=)
|
rs1461385635
|
0.00004
|
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
|
NM_152542.5(PPM1K):c.1075T>A (p.Phe359Ile)
|
rs149239581
|
0.00004
|
|
NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys)
|
rs150935940
|
0.00004
|
|
NM_152542.5(PPM1K):c.527G>A (p.Arg176His)
|
rs555916014
|
0.00004
|
|
NM_152542.5(PPM1K):c.77G>A (p.Arg26His)
|
rs369916009
|
0.00004
|
|
NM_152542.5(PPM1K):c.987+9G>C
|
rs374460251
|
0.00004
|
|
NM_153006.3(NAGS):c.1152C>T (p.Asp384=)
|
rs773966217
|
0.00004
|
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
|
NM_153006.3(NAGS):c.1392G>A (p.Leu464=)
|
rs758356127
|
0.00004
|
|
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln)
|
rs759076608
|
0.00004
|
|
NM_153006.3(NAGS):c.291G>A (p.Ser97=)
|
rs769434080
|
0.00004
|
|
NM_153006.3(NAGS):c.429G>A (p.Val143=)
|
rs199976538
|
0.00004
|
|
NM_153006.3(NAGS):c.534G>A (p.Pro178=)
|
rs539061299
|
0.00004
|
|
NM_153006.3(NAGS):c.573G>A (p.Glu191=)
|
rs748018121
|
0.00004
|
|
NM_153006.3(NAGS):c.622C>A (p.Arg208=)
|
rs762205848
|
0.00004
|
|
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr)
|
rs186127828
|
0.00004
|
|
NM_172250.3(MMAA):c.378A>G (p.Val126=)
|
rs750237065
|
0.00004
|
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
|
NM_172250.3(MMAA):c.562+11C>T
|
rs746737805
|
0.00004
|
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1006G>A (p.Gly336Ser)
|
rs1187250417
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1156+20C>T
|
rs368150158
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1437+18G>A
|
rs371350083
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1441C>T (p.Arg481Cys)
|
rs555139145
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1560C>A (p.Leu520=)
|
rs771239934
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1582A>G (p.Thr528Ala)
|
rs569395560
|
0.00004
|
|
NM_177550.5(SLC13A5):c.1584A>G (p.Thr528=)
|
rs764993670
|
0.00004
|
|
NM_177550.5(SLC13A5):c.18C>T (p.Ser6=)
|
rs775174636
|
0.00004
|
|
NM_177550.5(SLC13A5):c.232-8C>T
|
rs566063560
|
0.00004
|
|
NM_177550.5(SLC13A5):c.286G>A (p.Val96Met)
|
rs770640829
|
0.00004
|
|
NM_177550.5(SLC13A5):c.320A>G (p.Lys107Arg)
|
rs376995742
|
0.00004
|
|
NM_177550.5(SLC13A5):c.338C>T (p.Thr113Met)
|
rs759069275
|
0.00004
|
|
NM_177550.5(SLC13A5):c.342C>T (p.Leu114=)
|
rs774031315
|
0.00004
|
|
NM_177550.5(SLC13A5):c.391G>A (p.Val131Ile)
|
rs140389204
|
0.00004
|
|
NM_177550.5(SLC13A5):c.441G>A (p.Met147Ile)
|
rs764711084
|
0.00004
|
|
NM_177550.5(SLC13A5):c.489C>T (p.Ser163=)
|
rs372231184
|
0.00004
|
|
NM_177550.5(SLC13A5):c.505G>A (p.Gly169Ser)
|
rs199620361
|
0.00004
|
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
|
NM_177550.5(SLC13A5):c.864G>A (p.Gly288=)
|
rs910523768
|
0.00004
|
|
NM_177550.5(SLC13A5):c.920G>A (p.Arg307Gln)
|
rs377021126
|
0.00004
|
|
NM_177550.5(SLC13A5):c.945G>A (p.Ala315=)
|
rs1057522909
|
0.00004
|
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
|
NM_183050.4(BCKDHB):c.111C>T (p.His37=)
|
rs755592273
|
0.00004
|
|
NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)
|
rs574122134
|
0.00004
|
|
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)
|
rs398124579
|
0.00004
|
|
NM_183050.4(BCKDHB):c.681A>C (p.Ser227=)
|
rs755637620
|
0.00004
|
|
NM_183050.4(BCKDHB):c.840+15T>C
|
rs764829376
|
0.00004
|
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
|
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn)
|
rs1199892094
|
0.00004
|
|
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)
|
rs148551147
|
0.00004
|
|
NM_201253.3(CRB1):c.1089T>C (p.Tyr363=)
|
rs376105354
|
0.00004
|
|
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln)
|
rs531283439
|
0.00004
|
|
NM_201253.3(CRB1):c.1728G>A (p.Glu576=)
|
rs529612010
|
0.00004
|
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
|
NM_201253.3(CRB1):c.2235G>A (p.Thr745=)
|
rs753107217
|
0.00004
|
|
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)
|
rs62635654
|
0.00004
|
|
NM_201253.3(CRB1):c.2403G>A (p.Lys801=)
|
rs568010290
|
0.00004
|
|
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)
|
rs371089348
|
0.00004
|
|
NM_201253.3(CRB1):c.2463G>A (p.Thr821=)
|
rs375269970
|
0.00004
|
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
|
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
|
rs368816923
|
0.00004
|
|
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe)
|
rs983449864
|
0.00004
|
|
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)
|
rs886045787
|
0.00004
|
|
NM_201253.3(CRB1):c.3603A>T (p.Thr1201=)
|
rs778669324
|
0.00004
|
|
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
|
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln)
|
rs764581378
|
0.00004
|
|
NM_201253.3(CRB1):c.582C>A (p.Pro194=)
|
rs201148750
|
0.00004
|
|
NM_201253.3(CRB1):c.678C>T (p.Asp226=)
|
rs753324293
|
0.00004
|
|
NM_201253.3(CRB1):c.744C>T (p.Cys248=)
|
rs367580749
|
0.00004
|
|
NM_205861.3(DHDDS):c.441-24A>G
|
rs764831063
|
0.00004
|
|
NC_000022.11:g.40345484A>C
|
rs1386684080
|
0.00003
|
|
NC_000022.11:g.40345635T>C
|
rs1380960379
|
0.00003
|
|
NC_000022.11:g.40346063C>T
|
rs927109163
|
0.00003
|
|
NC_000022.11:g.40346104C>G
|
rs1293829192
|
0.00003
|
|
NC_000022.11:g.40346323C>A
|
rs756420450
|
0.00003
|
|
NC_000022.11:g.40346401G>T
|
rs1001687278
|
0.00003
|
|
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter)
|
rs148207467
|
0.00003
|
|
NM_000016.6(ACADM):c.118+10C>T
|
rs202218503
|
0.00003
|
|
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys)
|
rs398123072
|
0.00003
|
|
NM_000016.6(ACADM):c.216+5G>T
|
rs528788578
|
0.00003
|
|
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg)
|
rs886042055
|
0.00003
|
|
NM_000016.6(ACADM):c.287-16C>T
|
rs368504798
|
0.00003
|
|
NM_000016.6(ACADM):c.388-14A>G
|
rs372525651
|
0.00003
|
|
NM_000016.6(ACADM):c.407C>T (p.Ala136Val)
|
rs750792245
|
0.00003
|
|
NM_000016.6(ACADM):c.426del (p.Lys143fs)
|
rs777998984
|
0.00003
|
|
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys)
|
rs778906552
|
0.00003
|
|
NM_000016.6(ACADM):c.456G>A (p.Glu152=)
|
rs771055994
|
0.00003
|
|
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys)
|
rs754359356
|
0.00003
|
|
NM_000016.6(ACADM):c.599+3A>G
|
rs375921211
|
0.00003
|
|
NM_000016.6(ACADM):c.657T>C (p.Phe219=)
|
rs758331876
|
0.00003
|
|
NM_000016.6(ACADM):c.687A>C (p.Pro229=)
|
rs368276871
|
0.00003
|
|
NM_000016.6(ACADM):c.735A>T (p.Ser245=)
|
rs1451872855
|
0.00003
|
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
|
NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)
|
rs796051904
|
0.00003
|
|
NM_000017.4(ACADS):c.1086+5G>A
|
rs776623770
|
0.00003
|
|
NM_000017.4(ACADS):c.1139G>A (p.Arg380Gln)
|
rs368064268
|
0.00003
|
|
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys)
|
rs537072819
|
0.00003
|
|
NM_000017.4(ACADS):c.414G>A (p.Ala138=)
|
rs201825471
|
0.00003
|
|
NM_000017.4(ACADS):c.700C>T (p.Arg234Trp)
|
rs532174593
|
0.00003
|
|
NM_000017.4(ACADS):c.730G>A (p.Glu244Lys)
|
rs551883820
|
0.00003
|
|
NM_000017.4(ACADS):c.815G>A (p.Arg272His)
|
rs374726386
|
0.00003
|
|
NM_000017.4(ACADS):c.900C>T (p.Phe300=)
|
rs150980955
|
0.00003
|
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
|
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
|
rs112406105
|
0.00003
|
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
|
NM_000018.4(ACADVL):c.1197G>C (p.Met399Ile)
|
rs767552054
|
0.00003
|
|
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
|
rs113994169
|
0.00003
|
|
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)
|
rs118204018
|
0.00003
|
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
|
NM_000018.4(ACADVL):c.1458G>T (p.Gly486=)
|
rs749425874
|
0.00003
|
|
NM_000018.4(ACADVL):c.1532+11G>A
|
rs372900326
|
0.00003
|
|
NM_000018.4(ACADVL):c.1566C>T (p.Ser522=)
|
rs371654348
|
0.00003
|
|
NM_000018.4(ACADVL):c.1605+7G>A
|
rs572010910
|
0.00003
|
|
NM_000018.4(ACADVL):c.1606-6C>T
|
rs764055292
|
0.00003
|
|
NM_000018.4(ACADVL):c.168C>G (p.Pro56=)
|
rs544122648
|
0.00003
|
|
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)
|
rs398123085
|
0.00003
|
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
|
NM_000018.4(ACADVL):c.1782C>A (p.Pro594=)
|
rs1373644425
|
0.00003
|
|
NM_000018.4(ACADVL):c.1785G>A (p.Thr595=)
|
rs774382482
|
0.00003
|
|
NM_000018.4(ACADVL):c.1828-20C>T
|
rs757145035
|
0.00003
|
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
|
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)
|
rs534647044
|
0.00003
|
|
NM_000018.4(ACADVL):c.1858G>A (p.Ala620Thr)
|
rs965557488
|
0.00003
|
|
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln)
|
rs774762384
|
0.00003
|
|
NM_000018.4(ACADVL):c.277+6G>T
|
rs776422793
|
0.00003
|
|
NM_000018.4(ACADVL):c.298C>G (p.Gln100Glu)
|
rs750675692
|
0.00003
|
|
NM_000018.4(ACADVL):c.343-14T>C
|
rs200368309
|
0.00003
|
|
NM_000018.4(ACADVL):c.343G>C (p.Glu115Gln)
|
rs370146676
|
0.00003
|
|
NM_000018.4(ACADVL):c.369C>T (p.Asp123=)
|
rs374524648
|
0.00003
|
|
NM_000018.4(ACADVL):c.467G>C (p.Cys156Ser)
|
rs139973845
|
0.00003
|
|
NM_000018.4(ACADVL):c.945A>G (p.Val315=)
|
rs761849960
|
0.00003
|
|
NM_000018.4(ACADVL):c.992A>C (p.Lys331Thr)
|
rs727503792
|
0.00003
|
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
|
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
|
NM_000019.4(ACAT1):c.325T>C (p.Leu109=)
|
rs772625970
|
0.00003
|
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
|
NM_000019.4(ACAT1):c.721A>G (p.Thr241Ala)
|
rs752592672
|
0.00003
|
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
|
NM_000026.4(ADSL):c.-11G>T
|
rs200713871
|
0.00003
|
|
NM_000026.4(ADSL):c.-12C>T
|
rs775388314
|
0.00003
|
|
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)
|
rs766546584
|
0.00003
|
|
NM_000026.4(ADSL):c.1422C>T (p.Ser474=)
|
rs748593655
|
0.00003
|
|
NM_000026.4(ADSL):c.153G>A (p.Gln51=)
|
rs1214023402
|
0.00003
|
|
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)
|
rs772345709
|
0.00003
|
|
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln)
|
rs540648461
|
0.00003
|
|
NM_000026.4(ADSL):c.273C>T (p.His91=)
|
rs148303726
|
0.00003
|
|
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)
|
rs766465184
|
0.00003
|
|
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)
|
rs147194356
|
0.00003
|
|
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)
|
rs28941471
|
0.00003
|
|
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)
|
rs119450944
|
0.00003
|
|
NM_000026.4(ADSL):c.763C>T (p.Leu255=)
|
rs771049726
|
0.00003
|
|
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)
|
rs1364564756
|
0.00003
|
|
NM_000045.4(ARG1):c.245G>A (p.Gly82Asp)
|
rs774273532
|
0.00003
|
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
|
NM_000045.4(ARG1):c.558A>G (p.Glu186=)
|
rs773465984
|
0.00003
|
|
NM_000045.4(ARG1):c.621A>C (p.Gly207=)
|
rs1028447199
|
0.00003
|
|
NM_000045.4(ARG1):c.702C>T (p.Asp234=)
|
rs148939143
|
0.00003
|
|
NM_000045.4(ARG1):c.825A>G (p.Ile275Met)
|
rs781780752
|
0.00003
|
|
NM_000045.4(ARG1):c.871C>T (p.Arg291Ter)
|
rs104893940
|
0.00003
|
|
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)
|
rs28940287
|
0.00003
|
|
NM_000048.4(ASL):c.1242G>A (p.Gln414=)
|
rs144716217
|
0.00003
|
|
NM_000048.4(ASL):c.1345G>A (p.Asp449Asn)
|
rs781031440
|
0.00003
|
|
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)
|
rs767271619
|
0.00003
|
|
NM_000048.4(ASL):c.1389G>A (p.Gln463=)
|
rs149698725
|
0.00003
|
|
NM_000048.4(ASL):c.209T>C (p.Val70Ala)
|
rs1027739421
|
0.00003
|
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
|
NM_000048.4(ASL):c.291+7C>G
|
rs371162956
|
0.00003
|
|
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)
|
rs1428029508
|
0.00003
|
|
NM_000048.4(ASL):c.924C>T (p.Ala308=)
|
rs747831550
|
0.00003
|
|
NM_000048.4(ASL):c.938C>A (p.Thr313Asn)
|
rs1410031530
|
0.00003
|
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
|
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)
|
rs771298943
|
0.00003
|
|
NM_000071.3(CBS):c.1040-16G>A
|
rs755940179
|
0.00003
|
|
NM_000071.3(CBS):c.1040-6C>G
|
rs767372401
|
0.00003
|
|
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)
|
rs121964972
|
0.00003
|
|
NM_000071.3(CBS):c.1083G>A (p.Ala361=)
|
rs781323559
|
0.00003
|
|
NM_000071.3(CBS):c.1106G>A (p.Arg369His)
|
rs11700812
|
0.00003
|
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
|
NM_000071.3(CBS):c.1146-4G>A
|
rs778414187
|
0.00003
|
|
NM_000071.3(CBS):c.1146-7C>T
|
rs376749931
|
0.00003
|
|
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)
|
rs371214833
|
0.00003
|
|
NM_000071.3(CBS):c.1224-14C>T
|
rs756737169
|
0.00003
|
|
NM_000071.3(CBS):c.1224-5C>T
|
rs370071493
|
0.00003
|
|
NM_000071.3(CBS):c.1272C>T (p.Thr424=)
|
rs141717913
|
0.00003
|
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
|
NM_000071.3(CBS):c.1287C>T (p.Ile429=)
|
rs770442169
|
0.00003
|
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
|
NM_000071.3(CBS):c.1326C>G (p.Gly442=)
|
rs750627927
|
0.00003
|
|
NM_000071.3(CBS):c.1356G>A (p.Ala452=)
|
rs776322450
|
0.00003
|
|
NM_000071.3(CBS):c.1359-18C>T
|
rs770172764
|
0.00003
|
|
NM_000071.3(CBS):c.1359-9G>A
|
rs202137317
|
0.00003
|
|
NM_000071.3(CBS):c.1410C>T (p.Ala470=)
|
rs773019624
|
0.00003
|
|
NM_000071.3(CBS):c.1464A>G (p.Lys488=)
|
rs771312041
|
0.00003
|
|
NM_000071.3(CBS):c.147G>A (p.Pro49=)
|
rs771719483
|
0.00003
|
|
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)
|
rs772344567
|
0.00003
|
|
NM_000071.3(CBS):c.1485G>A (p.Thr495=)
|
rs369903148
|
0.00003
|
|
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)
|
rs370983323
|
0.00003
|
|
NM_000071.3(CBS):c.1563C>T (p.Thr521=)
|
rs773052594
|
0.00003
|
|
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)
|
rs748953468
|
0.00003
|
|
NM_000071.3(CBS):c.209C>T (p.Pro70Leu)
|
rs2229413
|
0.00003
|
|
NM_000071.3(CBS):c.210-16G>T
|
rs183972299
|
0.00003
|
|
NM_000071.3(CBS):c.296T>C (p.Phe99Ser)
|
rs112029370
|
0.00003
|
|
NM_000071.3(CBS):c.2T>C (p.Met1Thr)
|
rs769766030
|
0.00003
|
|
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)
|
rs781444670
|
0.00003
|
|
NM_000071.3(CBS):c.396C>T (p.Arg132=)
|
rs754758476
|
0.00003
|
|
NM_000071.3(CBS):c.412C>T (p.Pro138Ser)
|
rs765702034
|
0.00003
|
|
NM_000071.3(CBS):c.415G>A (p.Gly139Arg)
|
rs121964965
|
0.00003
|
|
NM_000071.3(CBS):c.429C>T (p.Ile143=)
|
rs370167302
|
0.00003
|
|
NM_000071.3(CBS):c.435G>A (p.Pro145=)
|
rs148782895
|
0.00003
|
|
NM_000071.3(CBS):c.456C>T (p.Ile152=)
|
rs769438280
|
0.00003
|
|
NM_000071.3(CBS):c.525C>T (p.Ser175=)
|
rs767850964
|
0.00003
|
|
NM_000071.3(CBS):c.537C>T (p.Asp179=)
|
rs769712423
|
0.00003
|
|
NM_000071.3(CBS):c.538G>A (p.Val180Met)
|
rs759402521
|
0.00003
|
|
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)
|
rs555751528
|
0.00003
|
|
NM_000071.3(CBS):c.609C>T (p.His203=)
|
rs142313595
|
0.00003
|
|
NM_000071.3(CBS):c.615G>C (p.Gly205=)
|
rs773114442
|
0.00003
|
|
NM_000071.3(CBS):c.616G>A (p.Val206Met)
|
rs369220569
|
0.00003
|
|
NM_000071.3(CBS):c.708C>T (p.Thr236=)
|
rs748495689
|
0.00003
|
|
NM_000071.3(CBS):c.717G>A (p.Glu239=)
|
rs372797469
|
0.00003
|
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
|
NM_000071.3(CBS):c.737-9G>A
|
rs781068454
|
0.00003
|
|
NM_000071.3(CBS):c.771G>A (p.Thr257=)
|
rs375004389
|
0.00003
|
|
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)
|
rs143124288
|
0.00003
|
|
NM_000071.3(CBS):c.785C>T (p.Thr262Met)
|
rs149119723
|
0.00003
|
|
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)
|
rs760212248
|
0.00003
|
|
NM_000071.3(CBS):c.903C>T (p.Tyr301=)
|
rs746575551
|
0.00003
|
|
NM_000071.3(CBS):c.918C>T (p.Ile306=)
|
rs201950895
|
0.00003
|
|
NM_000071.3(CBS):c.924C>T (p.Tyr308=)
|
rs149809170
|
0.00003
|
|
NM_000108.5(DLD):c.105C>T (p.Tyr35=)
|
rs747810875
|
0.00003
|
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
|
NM_000108.5(DLD):c.342C>T (p.Ser114=)
|
rs757785953
|
0.00003
|
|
NM_000108.5(DLD):c.495G>A (p.Thr165=)
|
rs202125454
|
0.00003
|
|
NM_000108.5(DLD):c.723A>C (p.Ala241=)
|
rs751488296
|
0.00003
|
|
NM_000108.5(DLD):c.92C>G (p.Pro31Arg)
|
rs776872575
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)
|
rs758004001
|
0.00003
|
|
NM_000126.4(ETFA):c.351+8G>A
|
rs374723922
|
0.00003
|
|
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
|
rs756864231
|
0.00003
|
|
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)
|
rs202121622
|
0.00003
|
|
NM_000126.4(ETFA):c.733+16T>G
|
rs755381395
|
0.00003
|
|
NM_000126.4(ETFA):c.771T>G (p.Val257=)
|
rs138255469
|
0.00003
|
|
NM_000126.4(ETFA):c.816+8T>A
|
rs759412407
|
0.00003
|
|
NM_000126.4(ETFA):c.981T>G (p.Thr327=)
|
rs752246889
|
0.00003
|
|
NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)
|
rs903038605
|
0.00003
|
|
NM_000137.4(FAH):c.1029G>A (p.Gly343=)
|
rs772334351
|
0.00003
|
|
NM_000137.4(FAH):c.10A>C (p.Ile4Leu)
|
rs754336457
|
0.00003
|
|
NM_000137.4(FAH):c.126C>T (p.Asp42=)
|
rs373120801
|
0.00003
|
|
NM_000137.4(FAH):c.192+18G>A
|
rs772156602
|
0.00003
|
|
NM_000137.4(FAH):c.1A>G (p.Met1Val)
|
rs1057517972
|
0.00003
|
|
NM_000137.4(FAH):c.82-3T>C
|
rs368921640
|
0.00003
|
|
NM_000137.4(FAH):c.843C>G (p.Pro281=)
|
rs755556442
|
0.00003
|
|
NM_000137.4(FAH):c.880A>C (p.Thr294Pro)
|
rs370634385
|
0.00003
|
|
NM_000156.6(GAMT):c.167C>T (p.Ala56Val)
|
rs575350720
|
0.00003
|
|
NM_000156.6(GAMT):c.181+20C>G
|
rs747307760
|
0.00003
|
|
NM_000156.6(GAMT):c.20C>A (p.Thr7Asn)
|
rs761687649
|
0.00003
|
|
NM_000156.6(GAMT):c.211A>G (p.Met71Val)
|
rs372027428
|
0.00003
|
|
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)
|
rs765070826
|
0.00003
|
|
NM_000156.6(GAMT):c.298C>T (p.Arg100Trp)
|
rs552210450
|
0.00003
|
|
NM_000156.6(GAMT):c.328-19T>C
|
rs879927012
|
0.00003
|
|
NM_000156.6(GAMT):c.36C>G (p.Pro12=)
|
rs760278546
|
0.00003
|
|
NM_000156.6(GAMT):c.42G>C (p.Glu14Asp)
|
rs775018136
|
0.00003
|
|
NM_000156.6(GAMT):c.460-7T>G
|
rs1200384623
|
0.00003
|
|
NM_000156.6(GAMT):c.471T>G (p.Phe157Leu)
|
rs372260609
|
0.00003
|
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
|
NM_000156.6(GAMT):c.509A>C (p.Asn170Thr)
|
rs202199674
|
0.00003
|
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
|
NM_000156.6(GAMT):c.600C>T (p.Ala200=)
|
rs200679529
|
0.00003
|
|
NM_000156.6(GAMT):c.608G>A (p.Arg203Gln)
|
rs376499506
|
0.00003
|
|
NM_000156.6(GAMT):c.622C>T (p.Arg208Cys)
|
rs778279369
|
0.00003
|
|
NM_000156.6(GAMT):c.623G>A (p.Arg208His)
|
rs767887772
|
0.00003
|
|
NM_000156.6(GAMT):c.650C>T (p.Pro217Leu)
|
rs139890971
|
0.00003
|
|
NM_000156.6(GAMT):c.669C>T (p.Tyr223=)
|
rs762954251
|
0.00003
|
|
NM_000156.6(GAMT):c.68C>T (p.Ala23Val)
|
rs796052530
|
0.00003
|
|
NM_000156.6(GAMT):c.9C>T (p.Ala3=)
|
rs1048753323
|
0.00003
|
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
|
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)
|
rs764608975
|
0.00003
|
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
|
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)
|
rs776758971
|
0.00003
|
|
NM_000159.4(GCDH):c.38G>A (p.Arg13His)
|
rs550100640
|
0.00003
|
|
NM_000159.4(GCDH):c.396G>T (p.Arg132=)
|
rs1160521098
|
0.00003
|
|
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)
|
rs1057516344
|
0.00003
|
|
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp)
|
rs766518430
|
0.00003
|
|
NM_000159.4(GCDH):c.876C>T (p.Asn292=)
|
rs1438245420
|
0.00003
|
|
NM_000159.4(GCDH):c.891C>T (p.Ile297=)
|
rs143102910
|
0.00003
|
|
NM_000159.4(GCDH):c.893C>T (p.Ala298Val)
|
rs764993096
|
0.00003
|
|
NM_000161.3(GCH1):c.239G>A (p.Ser80Asn)
|
rs770547722
|
0.00003
|
|
NM_000161.3(GCH1):c.324C>T (p.Gly108=)
|
rs772386583
|
0.00003
|
|
NM_000161.3(GCH1):c.343+8C>A
|
rs370233441
|
0.00003
|
|
NM_000161.3(GCH1):c.348C>T (p.Val116=)
|
rs1212537614
|
0.00003
|
|
NM_000161.3(GCH1):c.454-15G>A
|
rs559391590
|
0.00003
|
|
NM_000161.3(GCH1):c.509+8T>A
|
rs753570450
|
0.00003
|
|
NM_000161.3(GCH1):c.542-18T>A
|
rs1362048177
|
0.00003
|
|
NM_000161.3(GCH1):c.542-19C>T
|
rs201405174
|
0.00003
|
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
|
NM_000170.3(GLDC):c.114C>T (p.Ser38=)
|
rs1315587398
|
0.00003
|
|
NM_000170.3(GLDC):c.1166C>T (p.Ala389Val)
|
rs121964979
|
0.00003
|
|
NM_000170.3(GLDC):c.1383G>A (p.Arg461=)
|
rs376222727
|
0.00003
|
|
NM_000170.3(GLDC):c.1428C>T (p.Val476=)
|
rs781701911
|
0.00003
|
|
NM_000170.3(GLDC):c.1446C>T (p.Asp482=)
|
rs201147701
|
0.00003
|
|
NM_000170.3(GLDC):c.1453T>C (p.Leu485=)
|
rs760562478
|
0.00003
|
|
NM_000170.3(GLDC):c.1483-6C>T
|
rs1442788186
|
0.00003
|
|
NM_000170.3(GLDC):c.1644T>G (p.Leu548=)
|
rs750071045
|
0.00003
|
|
NM_000170.3(GLDC):c.1695G>A (p.Ser565=)
|
rs762780926
|
0.00003
|
|
NM_000170.3(GLDC):c.1751C>T (p.Pro584Leu)
|
rs779138019
|
0.00003
|
|
NM_000170.3(GLDC):c.183C>A (p.Asp61Glu)
|
rs375497905
|
0.00003
|
|
NM_000170.3(GLDC):c.1916G>A (p.Gly639Glu)
|
rs1488935367
|
0.00003
|
|
NM_000170.3(GLDC):c.1925C>T (p.Thr642Met)
|
rs141153261
|
0.00003
|
|
NM_000170.3(GLDC):c.2041C>T (p.Leu681Phe)
|
rs753457618
|
0.00003
|
|
NM_000170.3(GLDC):c.2137G>A (p.Val713Met)
|
rs912659426
|
0.00003
|
|
NM_000170.3(GLDC):c.2229C>T (p.Phe743=)
|
rs144317480
|
0.00003
|
|
NM_000170.3(GLDC):c.227G>C (p.Arg76Thr)
|
rs143358660
|
0.00003
|
|
NM_000170.3(GLDC):c.2305C>A (p.Pro769Thr)
|
rs751114163
|
0.00003
|
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
|
NM_000170.3(GLDC):c.2369G>A (p.Arg790Gln)
|
rs187209250
|
0.00003
|
|
NM_000170.3(GLDC):c.2387C>T (p.Pro796Leu)
|
rs975247366
|
0.00003
|
|
NM_000170.3(GLDC):c.2416G>A (p.Gly806Ser)
|
rs138797822
|
0.00003
|
|
NM_000170.3(GLDC):c.2569+9C>G
|
rs1410571088
|
0.00003
|
|
NM_000170.3(GLDC):c.261T>C (p.Ile87=)
|
rs776700682
|
0.00003
|
|
NM_000170.3(GLDC):c.262G>A (p.Asp88Asn)
|
rs770826242
|
0.00003
|
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
|
NM_000170.3(GLDC):c.2751C>T (p.Asp917=)
|
rs775143096
|
0.00003
|
|
NM_000170.3(GLDC):c.2926G>A (p.Val976Met)
|
rs150624881
|
0.00003
|
|
NM_000170.3(GLDC):c.606A>C (p.Ala202=)
|
rs779661117
|
0.00003
|
|
NM_000170.3(GLDC):c.726C>A (p.Val242=)
|
rs377750481
|
0.00003
|
|
NM_000170.3(GLDC):c.84G>T (p.Pro28=)
|
rs1259938806
|
0.00003
|
|
NM_000170.3(GLDC):c.870C>T (p.Ala290=)
|
rs143159617
|
0.00003
|
|
NM_000170.3(GLDC):c.873C>T (p.Cys291=)
|
rs893058571
|
0.00003
|
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
|
NM_000182.5(HADHA):c.1014C>T (p.Ala338=)
|
rs748021991
|
0.00003
|
|
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)
|
rs534553558
|
0.00003
|
|
NM_000182.5(HADHA):c.12C>T (p.Cys4=)
|
rs938902936
|
0.00003
|
|
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)
|
rs958717402
|
0.00003
|
|
NM_000182.5(HADHA):c.1479+9G>A
|
rs761058783
|
0.00003
|
|
NM_000182.5(HADHA):c.1620+9C>G
|
rs772786562
|
0.00003
|
|
NM_000182.5(HADHA):c.1683C>A (p.Ile561=)
|
rs372266559
|
0.00003
|
|
NM_000182.5(HADHA):c.1793_1794del (p.His598fs)
|
rs769580842
|
0.00003
|
|
NM_000182.5(HADHA):c.1923G>A (p.Glu641=)
|
rs754472544
|
0.00003
|
|
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe)
|
rs765213828
|
0.00003
|
|
NM_000182.5(HADHA):c.777G>A (p.Lys259=)
|
rs142071869
|
0.00003
|
|
NM_000182.5(HADHA):c.828A>G (p.Pro276=)
|
rs765819381
|
0.00003
|
|
NM_000182.5(HADHA):c.954C>T (p.Ala318=)
|
rs755595692
|
0.00003
|
|
NM_000187.4(HGD):c.477G>A (p.Gln159=)
|
rs1351109217
|
0.00003
|
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
|
NM_000187.4(HGD):c.709C>T (p.Arg237Cys)
|
rs1171237852
|
0.00003
|
|
NM_000187.4(HGD):c.765T>C (p.Ala255=)
|
rs747764475
|
0.00003
|
|
NM_000187.4(HGD):c.990G>T (p.Arg330Ser)
|
rs120074171
|
0.00003
|
|
NM_000191.3(HMGCL):c.349-3C>A
|
rs777476731
|
0.00003
|
|
NM_000191.3(HMGCL):c.453C>T (p.Asp151=)
|
rs148943423
|
0.00003
|
|
NM_000191.3(HMGCL):c.60+18C>T
|
rs1012054316
|
0.00003
|
|
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)
|
rs746968587
|
0.00003
|
|
NM_000191.3(HMGCL):c.6A>G (p.Ala2=)
|
rs375969301
|
0.00003
|
|
NM_000191.3(HMGCL):c.774T>C (p.Ser258=)
|
rs568796561
|
0.00003
|
|
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)
|
rs759745527
|
0.00003
|
|
NM_000240.4(MAOA):c.956-8T>G
|
rs780408416
|
0.00003
|
|
NM_000254.3(MTR):c.1275A>G (p.Pro425=)
|
rs202147344
|
0.00003
|
|
NM_000254.3(MTR):c.1943G>A (p.Arg648His)
|
rs751565093
|
0.00003
|
|
NM_000254.3(MTR):c.2043+18G>C
|
rs763911562
|
0.00003
|
|
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile)
|
rs201755946
|
0.00003
|
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
|
NM_000254.3(MTR):c.2473+14A>G
|
rs193210789
|
0.00003
|
|
NM_000254.3(MTR):c.2474-19_2474-18insA
|
rs777429098
|
0.00003
|
|
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro)
|
rs146569329
|
0.00003
|
|
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter)
|
rs536238004
|
0.00003
|
|
NM_000254.3(MTR):c.3135C>T (p.His1045=)
|
rs775738419
|
0.00003
|
|
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser)
|
rs780045701
|
0.00003
|
|
NM_000254.3(MTR):c.3636T>C (p.Ala1212=)
|
rs767100856
|
0.00003
|
|
NM_000254.3(MTR):c.899C>T (p.Thr300Met)
|
rs201871910
|
0.00003
|
|
NM_000274.4(OAT):c.1113A>G (p.Val371=)
|
rs370349040
|
0.00003
|
|
NM_000274.4(OAT):c.1251G>A (p.Pro417=)
|
rs570318690
|
0.00003
|
|
NM_000274.4(OAT):c.303G>A (p.Leu101=)
|
rs569605240
|
0.00003
|
|
NM_000274.4(OAT):c.314T>C (p.Val105Ala)
|
rs199957428
|
0.00003
|
|
NM_000274.4(OAT):c.521-7T>G
|
rs576876835
|
0.00003
|
|
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)
|
rs267606925
|
0.00003
|
|
NM_000274.4(OAT):c.649-17T>C
|
rs766418222
|
0.00003
|
|
NM_000274.4(OAT):c.649-18T>C
|
rs752593582
|
0.00003
|
|
NM_000274.4(OAT):c.650G>A (p.Arg217His)
|
rs774853325
|
0.00003
|
|
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter)
|
rs121965057
|
0.00003
|
|
NM_000274.4(OAT):c.901-3C>T
|
rs371484835
|
0.00003
|
|
NM_000276.4(OCRL):c.1416G>A (p.Lys472=)
|
rs367841616
|
0.00003
|
|
NM_000276.4(OCRL):c.1614G>A (p.Val538=)
|
rs748308192
|
0.00003
|
|
NM_000276.4(OCRL):c.2427G>A (p.Gln809=)
|
rs145277867
|
0.00003
|
|
NM_000276.4(OCRL):c.324C>T (p.Leu108=)
|
rs754424104
|
0.00003
|
|
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)
|
rs371099243
|
0.00003
|
|
NM_000276.4(OCRL):c.441G>A (p.Gly147=)
|
rs199624352
|
0.00003
|
|
NM_000277.3(PAH):c.1066T>C (p.Tyr356His)
|
rs62507320
|
0.00003
|
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
|
NM_000277.3(PAH):c.125A>G (p.Lys42Arg)
|
rs62635346
|
0.00003
|
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
|
NM_000277.3(PAH):c.157C>T (p.Arg53Cys)
|
rs199475619
|
0.00003
|
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
|
NM_000277.3(PAH):c.250G>T (p.Asp84Tyr)
|
rs62514902
|
0.00003
|
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
|
NM_000277.3(PAH):c.428A>T (p.Asp143Val)
|
rs199475572
|
0.00003
|
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
|
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)
|
rs539994406
|
0.00003
|
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
|
NM_000277.3(PAH):c.886G>A (p.Asp296Asn)
|
rs765934604
|
0.00003
|
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
|
NM_000277.3(PAH):c.894C>T (p.Ser298=)
|
rs765823928
|
0.00003
|
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
|
NM_000281.4(PCBD1):c.228G>A (p.Thr76=)
|
rs778445183
|
0.00003
|
|
NM_000282.4(PCCA):c.130T>C (p.Cys44Arg)
|
rs905391740
|
0.00003
|
|
NM_000282.4(PCCA):c.1342A>G (p.Met448Val)
|
rs767060690
|
0.00003
|
|
NM_000282.4(PCCA):c.1457G>A (p.Arg486Gln)
|
rs183239835
|
0.00003
|
|
NM_000282.4(PCCA):c.1576T>C (p.Leu526=)
|
rs564315582
|
0.00003
|
|
NM_000282.4(PCCA):c.1730A>G (p.Asn577Ser)
|
rs887791543
|
0.00003
|
|
NM_000282.4(PCCA):c.1929C>T (p.Ala643=)
|
rs772945583
|
0.00003
|
|
NM_000282.4(PCCA):c.1933G>A (p.Glu645Lys)
|
rs145428347
|
0.00003
|
|
NM_000282.4(PCCA):c.1987C>T (p.Arg663Cys)
|
rs200710812
|
0.00003
|
|
NM_000282.4(PCCA):c.2133_2135del (p.Cys712del)
|
rs1316778844
|
0.00003
|
|
NM_000282.4(PCCA):c.2T>C (p.Met1Thr)
|
rs372093520
|
0.00003
|
|
NM_000282.4(PCCA):c.33G>T (p.Leu11=)
|
rs922002208
|
0.00003
|
|
NM_000282.4(PCCA):c.414+19A>G
|
rs531469612
|
0.00003
|
|
NM_000282.4(PCCA):c.415-9A>G
|
rs1057520932
|
0.00003
|
|
NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)
|
rs773397570
|
0.00003
|
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
|
NM_000282.4(PCCA):c.803G>A (p.Arg268His)
|
rs368047060
|
0.00003
|
|
NM_000282.4(PCCA):c.915-18A>T
|
rs780272314
|
0.00003
|
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
|
NM_000317.3(PTS):c.151C>T (p.His51Tyr)
|
rs780284884
|
0.00003
|
|
NM_000317.3(PTS):c.243_243+1dup
|
rs866922524
|
0.00003
|
|
NM_000317.3(PTS):c.312G>A (p.Val104=)
|
rs148185068
|
0.00003
|
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
|
NM_000320.3(QDPR):c.118G>A (p.Val40Ile)
|
rs769586091
|
0.00003
|
|
NM_000320.3(QDPR):c.176C>T (p.Ser59Leu)
|
rs201345615
|
0.00003
|
|
NM_000320.3(QDPR):c.359A>G (p.His120Arg)
|
rs148369556
|
0.00003
|
|
NM_000320.3(QDPR):c.35G>A (p.Arg12Gln)
|
rs780483113
|
0.00003
|
|
NM_000320.3(QDPR):c.409G>A (p.Ala137Thr)
|
rs778631854
|
0.00003
|
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
|
NM_000329.3(RPE65):c.1198A>T (p.Thr400Ser)
|
rs1645826225
|
0.00003
|
|
NM_000329.3(RPE65):c.1338+8A>G
|
rs777211540
|
0.00003
|
|
NM_000329.3(RPE65):c.1366G>C (p.Glu456Gln)
|
rs755805126
|
0.00003
|
|
NM_000329.3(RPE65):c.1387C>A (p.Pro463Thr)
|
rs375358477
|
0.00003
|
|
NM_000329.3(RPE65):c.1452T>A (p.Gly484=)
|
rs775602082
|
0.00003
|
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
|
NM_000329.3(RPE65):c.1548T>C (p.Ala516=)
|
rs546103655
|
0.00003
|
|
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu)
|
rs201062742
|
0.00003
|
|
NM_000329.3(RPE65):c.246-7C>T
|
rs372100362
|
0.00003
|
|
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser)
|
rs886042220
|
0.00003
|
|
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)
|
rs771863086
|
0.00003
|
|
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser)
|
rs61752887
|
0.00003
|
|
NM_000329.3(RPE65):c.842C>G (p.Ser281Cys)
|
rs753656894
|
0.00003
|
|
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)
|
rs61752905
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)
|
rs187962930
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys)
|
rs201143887
|
0.00003
|
|
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)
|
rs200592320
|
0.00003
|
|
NM_000353.3(TAT):c.1164C>T (p.Asn388=)
|
rs148342760
|
0.00003
|
|
NM_000353.3(TAT):c.339C>T (p.Ile113=)
|
rs764951157
|
0.00003
|
|
NM_000353.3(TAT):c.378C>T (p.Tyr126=)
|
rs1169609060
|
0.00003
|
|
NM_000353.3(TAT):c.426T>C (p.Ser142=)
|
rs754808935
|
0.00003
|
|
NM_000353.3(TAT):c.760-12G>A
|
rs1218875252
|
0.00003
|
|
NM_000353.3(TAT):c.942G>A (p.Gln314=)
|
rs1395182099
|
0.00003
|
|
NM_000360.4(TH):c.1102A>T (p.Thr368Ser)
|
rs537643329
|
0.00003
|
|
NM_000360.4(TH):c.1105-4G>A
|
rs772712441
|
0.00003
|
|
NM_000360.4(TH):c.1237G>A (p.Asp413Asn)
|
rs201996748
|
0.00003
|
|
NM_000360.4(TH):c.1254C>T (p.Ala418=)
|
rs374772644
|
0.00003
|
|
NM_000360.4(TH):c.1297G>A (p.Val433Met)
|
rs772641972
|
0.00003
|
|
NM_000360.4(TH):c.1400A>G (p.Asp467Gly)
|
rs771351747
|
0.00003
|
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
|
NM_000360.4(TH):c.286C>T (p.Leu96=)
|
rs74742646
|
0.00003
|
|
NM_000360.4(TH):c.309T>C (p.Phe103=)
|
rs754746512
|
0.00003
|
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
|
NM_000360.4(TH):c.459G>A (p.Glu153=)
|
rs373986982
|
0.00003
|
|
NM_000360.4(TH):c.649G>A (p.Asp217Asn)
|
rs371488205
|
0.00003
|
|
NM_000360.4(TH):c.66C>T (p.Asp22=)
|
rs377073512
|
0.00003
|
|
NM_000360.4(TH):c.695+14G>A
|
rs369545292
|
0.00003
|
|
NM_000360.4(TH):c.714G>A (p.Thr238=)
|
rs747783772
|
0.00003
|
|
NM_000360.4(TH):c.768T>C (p.Ala256=)
|
rs1417486240
|
0.00003
|
|
NM_000360.4(TH):c.779G>T (p.Arg260Leu)
|
rs372142970
|
0.00003
|
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
|
NM_000360.4(TH):c.90+29C>T
|
rs761081184
|
0.00003
|
|
NM_000360.4(TH):c.91-15C>T
|
rs775705010
|
0.00003
|
|
NM_000360.4(TH):c.91-853C>T
|
rs756331878
|
0.00003
|
|
NM_000360.4(TH):c.984C>T (p.Cys328=)
|
rs371340450
|
0.00003
|
|
NM_000387.6(SLC25A20):c.199-10T>G
|
rs541208710
|
0.00003
|
|
NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly)
|
rs759262977
|
0.00003
|
|
NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser)
|
rs374770429
|
0.00003
|
|
NM_000387.6(SLC25A20):c.719-9G>A
|
rs973098577
|
0.00003
|
|
NM_000387.6(SLC25A20):c.844-11T>C
|
rs776093253
|
0.00003
|
|
NM_000481.4(AMT):c.1082C>T (p.Ala361Val)
|
rs757293245
|
0.00003
|
|
NM_000481.4(AMT):c.1202C>A (p.Thr401Asn)
|
rs752952950
|
0.00003
|
|
NM_000481.4(AMT):c.174A>G (p.Pro58=)
|
rs1356238437
|
0.00003
|
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
|
NM_000481.4(AMT):c.472-6T>C
|
rs750153849
|
0.00003
|
|
NM_000481.4(AMT):c.583G>A (p.Val195Met)
|
rs372496075
|
0.00003
|
|
NM_000481.4(AMT):c.705G>A (p.Val235=)
|
rs1324646911
|
0.00003
|
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
|
NM_000481.4(AMT):c.953G>A (p.Arg318Gln)
|
rs755780814
|
0.00003
|
|
NM_000531.6(OTC):c.196A>C (p.Arg66=)
|
rs369756595
|
0.00003
|
|
NM_000531.6(OTC):c.270T>C (p.Ser90=)
|
rs72554342
|
0.00003
|
|
NM_000531.6(OTC):c.717+8C>T
|
rs769353645
|
0.00003
|
|
NM_000531.6(OTC):c.963A>G (p.Ser321=)
|
rs1387377929
|
0.00003
|
|
NM_000532.5(PCCB):c.1087T>C (p.Ser363Pro)
|
rs770341883
|
0.00003
|
|
NM_000532.5(PCCB):c.1312G>T (p.Ala438Ser)
|
rs752758930
|
0.00003
|
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
|
NM_000532.5(PCCB):c.1399-5C>T
|
rs575227657
|
0.00003
|
|
NM_000532.5(PCCB):c.1511A>C (p.Asp504Ala)
|
rs1027171385
|
0.00003
|
|
NM_000532.5(PCCB):c.1569C>G (p.Ala523=)
|
rs1418405958
|
0.00003
|
|
NM_000532.5(PCCB):c.167A>G (p.Asp56Gly)
|
rs1422527852
|
0.00003
|
|
NM_000532.5(PCCB):c.372+15C>T
|
rs370726053
|
0.00003
|
|
NM_000532.5(PCCB):c.450G>A (p.Thr150=)
|
rs749989578
|
0.00003
|
|
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp)
|
rs373189621
|
0.00003
|
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
|
NM_000532.5(PCCB):c.654+12G>T
|
rs770141659
|
0.00003
|
|
NM_000532.5(PCCB):c.855G>A (p.Pro285=)
|
rs982512877
|
0.00003
|
|
NM_000532.5(PCCB):c.862G>C (p.Val288Leu)
|
rs201984177
|
0.00003
|
|
NM_000532.5(PCCB):c.865C>T (p.Arg289Cys)
|
rs771935604
|
0.00003
|
|
NM_000532.5(PCCB):c.890G>A (p.Arg297His)
|
rs147379583
|
0.00003
|
|
NM_000532.5(PCCB):c.906T>G (p.Leu302=)
|
rs139600424
|
0.00003
|
|
NM_000532.5(PCCB):c.967-14A>G
|
rs1011978513
|
0.00003
|
|
NM_000532.5(PCCB):c.988T>G (p.Phe330Val)
|
rs748708704
|
0.00003
|
|
NM_000554.6(CRX):c.100+13G>A
|
rs770361425
|
0.00003
|
|
NM_000554.6(CRX):c.460A>G (p.Thr154Ala)
|
rs763651232
|
0.00003
|
|
NM_000554.6(CRX):c.464C>T (p.Thr155Met)
|
rs753466818
|
0.00003
|
|
NM_000554.6(CRX):c.649G>A (p.Gly217Ser)
|
rs146869548
|
0.00003
|
|
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly)
|
rs773162208
|
0.00003
|
|
NM_000687.4(AHCY):c.29-4G>A
|
rs774846394
|
0.00003
|
|
NM_000687.4(AHCY):c.321C>T (p.Asp107=)
|
rs760451324
|
0.00003
|
|
NM_000687.4(AHCY):c.445+11C>T
|
rs375253690
|
0.00003
|
|
NM_000709.4(BCKDHA):c.1070A>G (p.Gln357Arg)
|
rs185688419
|
0.00003
|
|
NM_000709.4(BCKDHA):c.108+12G>A
|
rs780834493
|
0.00003
|
|
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)
|
rs376456598
|
0.00003
|
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
|
NM_000709.4(BCKDHA):c.293C>T (p.Pro98Leu)
|
rs532803527
|
0.00003
|
|
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=)
|
rs201366184
|
0.00003
|
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
|
NM_000709.4(BCKDHA):c.438C>T (p.Ala146=)
|
rs200947033
|
0.00003
|
|
NM_000709.4(BCKDHA):c.633G>A (p.Thr211=)
|
rs750729027
|
0.00003
|
|
NM_000709.4(BCKDHA):c.647-16C>T
|
rs760230287
|
0.00003
|
|
NM_000709.4(BCKDHA):c.726T>C (p.Ser242=)
|
rs750023394
|
0.00003
|
|
NM_000709.4(BCKDHA):c.807C>T (p.Tyr269=)
|
rs775754845
|
0.00003
|
|
NM_000709.4(BCKDHA):c.819G>T (p.Thr273=)
|
rs201991385
|
0.00003
|
|
NM_000709.4(BCKDHA):c.867C>T (p.Pro289=)
|
rs779043936
|
0.00003
|
|
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)
|
rs200137189
|
0.00003
|
|
NM_000709.4(BCKDHA):c.891C>T (p.Arg297=)
|
rs187669174
|
0.00003
|
|
NM_000709.4(BCKDHA):c.946C>T (p.Arg316Trp)
|
rs758442329
|
0.00003
|
|
NM_000709.4(BCKDHA):c.999C>T (p.Ile333=)
|
rs374450070
|
0.00003
|
|
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)
|
rs1235176737
|
0.00003
|
|
NM_001002755.4(NFU1):c.702G>A (p.Glu234=)
|
rs561482249
|
0.00003
|
|
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu)
|
rs753218907
|
0.00003
|
|
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly)
|
rs759005478
|
0.00003
|
|
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)
|
rs1053773776
|
0.00003
|
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
|
NM_001024845.3(SLC6A9):c.1096C>T (p.Leu366=)
|
rs749350979
|
0.00003
|
|
NM_001024845.3(SLC6A9):c.1613C>T (p.Ala538Val)
|
rs756505420
|
0.00003
|
|
NM_001024845.3(SLC6A9):c.219C>T (p.Leu73=)
|
rs752331240
|
0.00003
|
|
NM_001024845.3(SLC6A9):c.31-6222C>T
|
rs200465924
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1014+13G>C
|
rs201217389
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1051G>T (p.Gly351Cys)
|
rs772638789
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.115C>G (p.Pro39Ala)
|
rs1293911941
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1173+8dup
|
rs770822292
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1174-10C>T
|
rs754181566
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1264C>T (p.Pro422Ser)
|
rs752944770
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1314G>A (p.Glu438=)
|
rs1471758596
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)
|
rs775722631
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1480G>A (p.Glu494Lys)
|
rs374232934
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1535T>G (p.Leu512Arg)
|
rs752005255
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1541G>A (p.Arg514Gln)
|
rs1232923691
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1558G>A (p.Gly520Ser)
|
rs1179619995
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.1606T>C (p.Ter536Gln)
|
rs201484501
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.162C>T (p.Leu54=)
|
rs760612467
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.176T>C (p.Leu59Pro)
|
rs1001493071
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.296G>C (p.Arg99Pro)
|
rs1161280166
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.355-4G>C
|
rs775932045
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.490C>T (p.Leu164=)
|
rs749451380
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.533T>C (p.Ile178Thr)
|
rs375773360
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.563C>T (p.Ala188Val)
|
rs779139147
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.583A>G (p.Ile195Val)
|
rs759237061
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.584T>C (p.Ile195Thr)
|
rs923917352
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)
|
rs4646837
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)
|
rs760461822
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.664G>A (p.Gly222Ser)
|
rs766251446
|
0.00003
|
|
NM_001080.3(ALDH5A1):c.696C>T (p.Asp232=)
|
rs145883639
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=)
|
rs781149861
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)
|
rs763944721
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)
|
rs767892925
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.198C>T (p.Pro66=)
|
rs774731482
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)
|
rs1246140836
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=)
|
rs373695561
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)
|
rs369129616
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=)
|
rs765929251
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp)
|
rs762466161
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu)
|
rs376074188
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=)
|
rs755434242
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)
|
rs752824390
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=)
|
rs1057522107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)
|
rs1268938831
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3090-6C>T
|
rs758040795
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=)
|
rs768168157
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)
|
rs776628272
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=)
|
rs369927027
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)
|
rs201647627
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=)
|
rs770311284
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=)
|
rs772768681
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3490G>A (p.Asp1164Asn)
|
rs775838621
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His)
|
rs761259850
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)
|
rs776503550
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)
|
rs372081879
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=)
|
rs190264873
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr)
|
rs1187916307
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=)
|
rs1353710115
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=)
|
rs768317498
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4951-14C>T
|
rs1019678447
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5400+3G>A
|
rs1034627495
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)
|
rs372359926
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln)
|
rs745900417
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)
|
rs777510892
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5528+1273T>C
|
rs371000214
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=)
|
rs534218994
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5898G>A (p.Arg1966=)
|
rs370834253
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5940+5G>A
|
rs780060495
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6051-4G>A
|
rs1199529097
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)
|
rs370345937
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6130A>G (p.Thr2044Ala)
|
rs566781445
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)
|
rs974692135
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
|
rs373229577
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6340-19G>A
|
rs916904971
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)
|
rs779044548
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=)
|
rs1336839525
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.654G>A (p.Ser218=)
|
rs201991581
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)
|
rs756685971
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=)
|
rs556858383
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)
|
rs1336146310
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)
|
rs2304094
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=)
|
rs1312330476
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6722G>A (p.Arg2241Gln)
|
rs773057074
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6780+8C>T
|
rs774169958
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6780+9G>A
|
rs763812565
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val)
|
rs1005732031
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=)
|
rs374451559
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1501+11G>A
|
rs770771724
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1502-5C>T
|
rs577763495
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=)
|
rs375187216
|
0.00003
|
|
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=)
|
rs139813770
|
0.00003
|
|
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=)
|
rs147044602
|
0.00003
|
|
NM_001243279.3(ACSF3):c.18G>A (p.Val6=)
|
rs375071176
|
0.00003
|
|
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln)
|
rs751551226
|
0.00003
|
|
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=)
|
rs901932797
|
0.00003
|
|
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=)
|
rs771481057
|
0.00003
|
|
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=)
|
rs757199694
|
0.00003
|
|
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=)
|
rs748625786
|
0.00003
|
|
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=)
|
rs751461445
|
0.00003
|
|
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=)
|
rs143501853
|
0.00003
|
|
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr)
|
rs754161182
|
0.00003
|
|
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His)
|
rs200352879
|
0.00003
|
|
NM_001243279.3(ACSF3):c.978-4G>A
|
rs370451473
|
0.00003
|
|
NM_001258392.3(CLPB):c.105G>T (p.Arg35=)
|
rs1336037926
|
0.00003
|
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
|
NM_001258392.3(CLPB):c.1571G>A (p.Arg524Gln)
|
rs576652298
|
0.00003
|
|
NM_001258392.3(CLPB):c.1692G>T (p.Arg564Ser)
|
rs778761751
|
0.00003
|
|
NM_001258392.3(CLPB):c.1786-3C>T
|
rs372126133
|
0.00003
|
|
NM_001258392.3(CLPB):c.246C>T (p.Cys82=)
|
rs1004490311
|
0.00003
|
|
NM_001258392.3(CLPB):c.249C>T (p.Leu83=)
|
rs200845330
|
0.00003
|
|
NM_001258392.3(CLPB):c.543-12G>C
|
rs750871760
|
0.00003
|
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
|
NM_001258392.3(CLPB):c.890G>A (p.Arg297Gln)
|
rs762784246
|
0.00003
|
|
NM_001258392.3(CLPB):c.990G>A (p.Ala330=)
|
rs765172842
|
0.00003
|
|
NM_001271.4(CHD2):c.1155T>A (p.Ala385=)
|
rs374640261
|
0.00003
|
|
NM_001271.4(CHD2):c.1199-11A>G
|
rs1236615732
|
0.00003
|
|
NM_001271.4(CHD2):c.1596G>A (p.Leu532=)
|
rs996584370
|
0.00003
|
|
NM_001271.4(CHD2):c.1680C>T (p.Asn560=)
|
rs368985360
|
0.00003
|
|
NM_001271.4(CHD2):c.1773A>G (p.Ala591=)
|
rs370425217
|
0.00003
|
|
NM_001271.4(CHD2):c.192G>A (p.Ser64=)
|
rs143614581
|
0.00003
|
|
NM_001271.4(CHD2):c.1938G>A (p.Gly646=)
|
rs985145180
|
0.00003
|
|
NM_001271.4(CHD2):c.2769G>A (p.Glu923=)
|
rs755268343
|
0.00003
|
|
NM_001271.4(CHD2):c.2850C>A (p.Ile950=)
|
rs780916645
|
0.00003
|
|
NM_001271.4(CHD2):c.294+5C>T
|
rs777934535
|
0.00003
|
|
NM_001271.4(CHD2):c.3067-19A>G
|
rs749337105
|
0.00003
|
|
NM_001271.4(CHD2):c.3238G>C (p.Ala1080Pro)
|
rs760099829
|
0.00003
|
|
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=)
|
rs774908145
|
0.00003
|
|
NM_001271.4(CHD2):c.3322T>A (p.Ser1108Thr)
|
rs750356605
|
0.00003
|
|
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=)
|
rs781574098
|
0.00003
|
|
NM_001271.4(CHD2):c.3413+7G>T
|
rs892847874
|
0.00003
|
|
NM_001271.4(CHD2):c.3596-15A>T
|
rs376417647
|
0.00003
|
|
NM_001271.4(CHD2):c.3734+7A>G
|
rs565514035
|
0.00003
|
|
NM_001271.4(CHD2):c.4029G>A (p.Lys1343=)
|
rs200781322
|
0.00003
|
|
NM_001271.4(CHD2):c.4036G>T (p.Val1346Leu)
|
rs200178864
|
0.00003
|
|
NM_001271.4(CHD2):c.4063C>A (p.Leu1355Met)
|
rs748470273
|
0.00003
|
|
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del)
|
rs746694647
|
0.00003
|
|
NM_001271.4(CHD2):c.4242C>T (p.Asp1414=)
|
rs771971989
|
0.00003
|
|
NM_001271.4(CHD2):c.4434C>G (p.Pro1478=)
|
rs199572989
|
0.00003
|
|
NM_001271.4(CHD2):c.4584C>G (p.Leu1528=)
|
rs543526502
|
0.00003
|
|
NM_001271.4(CHD2):c.4693-3T>C
|
rs967867731
|
0.00003
|
|
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
|
rs753595749
|
0.00003
|
|
NM_001271.4(CHD2):c.585G>A (p.Pro195=)
|
rs371325259
|
0.00003
|
|
NM_001271.4(CHD2):c.596G>A (p.Arg199His)
|
rs367550855
|
0.00003
|
|
NM_001271.4(CHD2):c.62+19C>A
|
rs748026656
|
0.00003
|
|
NM_001271.4(CHD2):c.827-12A>C
|
rs759241973
|
0.00003
|
|
NM_001271.4(CHD2):c.881G>T (p.Gly294Val)
|
rs771390521
|
0.00003
|
|
NM_001278293.3(ARL6):c.529C>T (p.Leu177Phe)
|
rs750627875
|
0.00003
|
|
NM_001278293.3(ARL6):c.93G>A (p.Thr31=)
|
rs778479091
|
0.00003
|
|
NM_001352514.2(HLCS):c.1119C>T (p.Pro373=)
|
rs768927843
|
0.00003
|
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
|
NM_001352514.2(HLCS):c.1911G>A (p.Pro637=)
|
rs775832153
|
0.00003
|
|
NM_001352514.2(HLCS):c.1935C>T (p.Ile645=)
|
rs749728724
|
0.00003
|
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
|
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)
|
rs119103229
|
0.00003
|
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
|
NM_001352514.2(HLCS):c.2181C>T (p.Ile727=)
|
rs375456567
|
0.00003
|
|
NM_001352514.2(HLCS):c.2184C>T (p.Gly728=)
|
rs370277326
|
0.00003
|
|
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)
|
rs199517800
|
0.00003
|
|
NM_001352514.2(HLCS):c.2451-8C>G
|
rs373177254
|
0.00003
|
|
NM_001352514.2(HLCS):c.2511C>T (p.Asp837=)
|
rs761596791
|
0.00003
|
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
|
NM_001352514.2(HLCS):c.885C>T (p.Pro295=)
|
rs139989284
|
0.00003
|
|
NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)
|
rs1004027979
|
0.00003
|
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
|
NM_001370658.1(BTD):c.1456C>T (p.Leu486=)
|
rs774018881
|
0.00003
|
|
NM_001370658.1(BTD):c.400-10T>G
|
rs750494564
|
0.00003
|
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
|
NM_001370658.1(BTD):c.72C>T (p.Thr24=)
|
rs765550405
|
0.00003
|
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
|
NM_001370658.1(BTD):c.997G>A (p.Glu333Lys)
|
rs753466926
|
0.00003
|
|
NM_001482.3(GATM):c.1159+14A>G
|
rs368974196
|
0.00003
|
|
NM_001482.3(GATM):c.1239G>A (p.Arg413=)
|
rs550159982
|
0.00003
|
|
NM_001482.3(GATM):c.139C>T (p.Arg47Trp)
|
rs749075034
|
0.00003
|
|
NM_001482.3(GATM):c.279C>G (p.Ile93Met)
|
rs192378417
|
0.00003
|
|
NM_001609.4(ACADSB):c.1026G>A (p.Gln342=)
|
rs755539165
|
0.00003
|
|
NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile)
|
rs760585344
|
0.00003
|
|
NM_001609.4(ACADSB):c.1186A>G (p.Lys396Glu)
|
rs199963793
|
0.00003
|
|
NM_001609.4(ACADSB):c.176A>G (p.Asp59Gly)
|
rs1375520384
|
0.00003
|
|
NM_001609.4(ACADSB):c.675T>C (p.Pro225=)
|
rs770933347
|
0.00003
|
|
NM_001698.3(AUH):c.506-9C>T
|
rs537751591
|
0.00003
|
|
NM_001698.3(AUH):c.589C>T (p.Arg197Ter)
|
rs121434636
|
0.00003
|
|
NM_001698.3(AUH):c.657G>A (p.Gly219=)
|
rs141110052
|
0.00003
|
|
NM_001698.3(AUH):c.746A>G (p.Lys249Arg)
|
rs752072326
|
0.00003
|
|
NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)
|
rs766339583
|
0.00003
|
|
NM_001739.2(CA5A):c.687C>T (p.Thr229=)
|
rs369600488
|
0.00003
|
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
|
NM_001875.5(CPS1):c.1662A>G (p.Leu554=)
|
rs778112132
|
0.00003
|
|
NM_001875.5(CPS1):c.1707+11T>G
|
rs377732856
|
0.00003
|
|
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
|
rs554763314
|
0.00003
|
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
|
NM_001875.5(CPS1):c.3404+8T>A
|
rs767159571
|
0.00003
|
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
|
NM_001875.5(CPS1):c.3952T>C (p.Leu1318=)
|
rs769593170
|
0.00003
|
|
NM_001875.5(CPS1):c.4164G>A (p.Leu1388=)
|
rs750003966
|
0.00003
|
|
NM_001875.5(CPS1):c.840+10A>G
|
rs778447367
|
0.00003
|
|
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln)
|
rs374383052
|
0.00003
|
|
NM_001876.4(CPT1A):c.1112C>T (p.Ser371Leu)
|
rs376430455
|
0.00003
|
|
NM_001876.4(CPT1A):c.1152C>T (p.Thr384=)
|
rs765003303
|
0.00003
|
|
NM_001876.4(CPT1A):c.1352+14C>A
|
rs777403181
|
0.00003
|
|
NM_001876.4(CPT1A):c.1353-15G>A
|
rs17848451
|
0.00003
|
|
NM_001876.4(CPT1A):c.1437G>A (p.Pro479=)
|
rs554525176
|
0.00003
|
|
NM_001876.4(CPT1A):c.1440C>T (p.Ile480=)
|
rs746623711
|
0.00003
|
|
NM_001876.4(CPT1A):c.1461C>T (p.Tyr487=)
|
rs757568196
|
0.00003
|
|
NM_001876.4(CPT1A):c.1518C>T (p.Gly506=)
|
rs573112017
|
0.00003
|
|
NM_001876.4(CPT1A):c.2235+4T>C
|
rs755308448
|
0.00003
|
|
NM_001876.4(CPT1A):c.454-7T>C
|
rs780429219
|
0.00003
|
|
NM_001876.4(CPT1A):c.518G>A (p.Arg173His)
|
rs199589844
|
0.00003
|
|
NM_001876.4(CPT1A):c.601C>T (p.Arg201Trp)
|
rs373344573
|
0.00003
|
|
NM_001876.4(CPT1A):c.642A>G (p.Gly214=)
|
rs377534215
|
0.00003
|
|
NM_001876.4(CPT1A):c.694-5A>G
|
rs533087846
|
0.00003
|
|
NM_001876.4(CPT1A):c.741G>A (p.Pro247=)
|
rs1034760579
|
0.00003
|
|
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)
|
rs80356796
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1029+6G>A
|
rs370457251
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1092C>T (p.His364=)
|
rs1455059454
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1269C>T (p.Arg423=)
|
rs900643414
|
0.00003
|
|
NM_001958.5(EEF1A2):c.1281C>T (p.Arg427=)
|
rs776988182
|
0.00003
|
|
NM_001958.5(EEF1A2):c.180G>C (p.Leu60=)
|
rs760484799
|
0.00003
|
|
NM_001958.5(EEF1A2):c.288C>T (p.Arg96=)
|
rs368043002
|
0.00003
|
|
NM_001958.5(EEF1A2):c.39C>T (p.Ile13=)
|
rs762508675
|
0.00003
|
|
NM_001958.5(EEF1A2):c.502G>A (p.Asp168Asn)
|
rs779246304
|
0.00003
|
|
NM_001958.5(EEF1A2):c.504C>T (p.Asp168=)
|
rs757395064
|
0.00003
|
|
NM_001958.5(EEF1A2):c.543C>T (p.Ile181=)
|
rs1057115359
|
0.00003
|
|
NM_001958.5(EEF1A2):c.621+18C>T
|
rs555535397
|
0.00003
|
|
NM_001958.5(EEF1A2):c.717G>A (p.Thr239=)
|
rs1355719317
|
0.00003
|
|
NM_001958.5(EEF1A2):c.772+12C>T
|
rs754595612
|
0.00003
|
|
NM_001958.5(EEF1A2):c.921C>T (p.Asn307=)
|
rs1057522085
|
0.00003
|
|
NM_001958.5(EEF1A2):c.924C>T (p.Val308=)
|
rs779912733
|
0.00003
|
|
NM_001958.5(EEF1A2):c.93C>T (p.Cys31=)
|
rs747910289
|
0.00003
|
|
NM_001985.3(ETFB):c.135G>A (p.Ala45=)
|
rs372040033
|
0.00003
|
|
NM_001985.3(ETFB):c.142G>A (p.Glu48Lys)
|
rs750117869
|
0.00003
|
|
NM_001985.3(ETFB):c.217-4G>T
|
rs149557388
|
0.00003
|
|
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr)
|
rs548046212
|
0.00003
|
|
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu)
|
rs920672041
|
0.00003
|
|
NM_001985.3(ETFB):c.618C>T (p.Ile206=)
|
rs533794107
|
0.00003
|
|
NM_001985.3(ETFB):c.687C>A (p.Asp229Glu)
|
rs200877363
|
0.00003
|
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
|
NM_002225.5(IVD):c.1066-10C>T
|
rs774472099
|
0.00003
|
|
NM_002225.5(IVD):c.1066-4G>A
|
rs374193700
|
0.00003
|
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
0.00003
|
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
|
NM_002225.5(IVD):c.576C>T (p.Asn192=)
|
rs756184085
|
0.00003
|
|
NM_002225.5(IVD):c.609C>T (p.Asp203=)
|
rs563452741
|
0.00003
|
|
NM_002225.5(IVD):c.785-9T>C
|
rs374999241
|
0.00003
|
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
|
NM_002225.5(IVD):c.873T>C (p.Pro291=)
|
rs537402391
|
0.00003
|
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
|
NM_002225.5(IVD):c.960+8G>A
|
rs531429598
|
0.00003
|
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
|
NM_002454.3(MTRR):c.1188T>C (p.Ala396=)
|
rs763760088
|
0.00003
|
|
NM_002454.3(MTRR):c.1287C>T (p.Leu429=)
|
rs551079367
|
0.00003
|
|
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)
|
rs755408035
|
0.00003
|
|
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)
|
rs374239028
|
0.00003
|
|
NM_002454.3(MTRR):c.246G>C (p.Pro82=)
|
rs149300444
|
0.00003
|
|
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)
|
rs773984668
|
0.00003
|
|
NM_002454.3(MTRR):c.402-20C>T
|
rs565590605
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1027A>G (p.Ile343Val)
|
rs371294018
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1110G>A (p.Ala370=)
|
rs558532112
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1172A>G (p.His391Arg)
|
rs774081826
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1190C>T (p.Thr397Met)
|
rs769823561
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.122G>A (p.Arg41His)
|
rs192921117
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1237G>A (p.Glu413Lys)
|
rs147348068
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1380C>T (p.Ile460=)
|
rs770247123
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1417A>G (p.Ile473Val)
|
rs373239891
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1467+15C>T
|
rs374652686
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.1540C>T (p.Arg514Trp)
|
rs770442555
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2040C>T (p.Asn680=)
|
rs145806693
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2121G>A (p.Ala707=)
|
rs753837028
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2176C>T (p.Arg726Cys)
|
rs202169492
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp)
|
rs747918055
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.709G>C (p.Gly237Arg)
|
rs201841420
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.933+14G>A
|
rs546156675
|
0.00003
|
|
NM_002860.4(ALDH18A1):c.948C>T (p.Leu316=)
|
rs769800738
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1191+11C>T
|
rs764670075
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1191+8C>T
|
rs1259297873
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1224G>A (p.Leu408=)
|
rs1422692085
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1302C>G (p.Ile434Met)
|
rs200670508
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1516A>G (p.Ile506Val)
|
rs529455113
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1559C>T (p.Thr520Met)
|
rs372892801
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=)
|
rs145387062
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1731C>T (p.Ile577=)
|
rs778960516
|
0.00003
|
|
NM_003042.4(SLC6A1):c.1732G>A (p.Val578Ile)
|
rs369359690
|
0.00003
|
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
|
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=)
|
rs372085480
|
0.00003
|
|
NM_003042.4(SLC6A1):c.660C>T (p.Ile220=)
|
rs760984163
|
0.00003
|
|
NM_003042.4(SLC6A1):c.779C>T (p.Thr260Met)
|
rs777446246
|
0.00003
|
|
NM_003042.4(SLC6A1):c.849+9C>T
|
rs370642265
|
0.00003
|
|
NM_003042.4(SLC6A1):c.966C>T (p.Ile322=)
|
rs757627416
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1053-14G>A
|
rs779432700
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1161T>G (p.Tyr387Ter)
|
rs72552731
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1229G>A (p.Gly410Asp)
|
rs200125400
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1255C>G (p.Leu419Val)
|
rs780591287
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1267+5G>A
|
rs367638878
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1271T>C (p.Leu424Ser)
|
rs184618759
|
0.00003
|
|
NM_003060.4(SLC22A5):c.130G>A (p.Ala44Thr)
|
rs1266620798
|
0.00003
|
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
|
NM_003060.4(SLC22A5):c.133A>G (p.Thr45Ala)
|
rs376438682
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1468C>T (p.Leu490=)
|
rs1580895743
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1539C>T (p.Phe513=)
|
rs370593952
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1548A>G (p.Pro516=)
|
rs1253149319
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala)
|
rs768925240
|
0.00003
|
|
NM_003060.4(SLC22A5):c.1587-11T>G
|
rs772775759
|
0.00003
|
|
NM_003060.4(SLC22A5):c.312C>T (p.Asp104=)
|
rs895049211
|
0.00003
|
|
NM_003060.4(SLC22A5):c.377C>A (p.Ser126Tyr)
|
rs568906114
|
0.00003
|
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
|
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met)
|
rs386134193
|
0.00003
|
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
|
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
|
rs121908889
|
0.00003
|
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
|
NM_003060.4(SLC22A5):c.530T>C (p.Met177Thr)
|
rs761866020
|
0.00003
|
|
NM_003060.4(SLC22A5):c.572A>G (p.Lys191Arg)
|
rs200290813
|
0.00003
|
|
NM_003060.4(SLC22A5):c.592G>A (p.Val198Met)
|
rs757979350
|
0.00003
|
|
NM_003060.4(SLC22A5):c.696G>A (p.Thr232=)
|
rs748677211
|
0.00003
|
|
NM_003060.4(SLC22A5):c.843C>T (p.Pro281=)
|
rs764544978
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.1467C>G (p.Val489=)
|
rs377587520
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.1529C>G (p.Ser510Cys)
|
rs760227262
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.1625C>T (p.Thr542Met)
|
rs771061582
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.432C>T (p.Leu144=)
|
rs781234955
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.569C>T (p.Pro190Leu)
|
rs757819366
|
0.00003
|
|
NM_003748.4(ALDH4A1):c.624G>A (p.Ser208=)
|
rs142063145
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1122C>T (p.Cys374=)
|
rs771254387
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1123G>A (p.Val375Met)
|
rs769093980
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1315G>A (p.Asp439Asn)
|
rs199986641
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1407G>A (p.Pro469=)
|
rs1182780017
|
0.00003
|
|
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=)
|
rs765682604
|
0.00003
|
|
NM_003982.4(SLC7A7):c.149T>C (p.Met50Thr)
|
rs386833811
|
0.00003
|
|
NM_003982.4(SLC7A7):c.308G>A (p.Ser103Asn)
|
rs1253377292
|
0.00003
|
|
NM_003982.4(SLC7A7):c.595A>G (p.Ile199Val)
|
rs779266344
|
0.00003
|
|
NM_003982.4(SLC7A7):c.862A>C (p.Arg288=)
|
rs143240690
|
0.00003
|
|
NM_003982.4(SLC7A7):c.894+10T>A
|
rs769176965
|
0.00003
|
|
NM_003982.4(SLC7A7):c.894+6G>A
|
rs373812507
|
0.00003
|
|
NM_003982.4(SLC7A7):c.981C>T (p.Ser327=)
|
rs139335972
|
0.00003
|
|
NM_003982.4(SLC7A7):c.99G>A (p.Leu33=)
|
rs757080971
|
0.00003
|
|
NM_004408.4(DNM1):c.1176C>T (p.Ile392=)
|
rs760314213
|
0.00003
|
|
NM_004408.4(DNM1):c.1197-16C>T
|
rs769415906
|
0.00003
|
|
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter)
|
rs200535620
|
0.00003
|
|
NM_004408.4(DNM1):c.1335+16G>A
|
rs768442528
|
0.00003
|
|
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val)
|
rs992608425
|
0.00003
|
|
NM_004408.4(DNM1):c.1558-16C>T
|
rs768903530
|
0.00003
|
|
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg)
|
rs760956595
|
0.00003
|
|
NM_004408.4(DNM1):c.1672-15T>C
|
rs1184633809
|
0.00003
|
|
NM_004408.4(DNM1):c.1722C>T (p.Asp574=)
|
rs1404706727
|
0.00003
|
|
NM_004408.4(DNM1):c.1893+9C>A
|
rs769121301
|
0.00003
|
|
NM_004408.4(DNM1):c.1906-20C>T
|
rs1284100485
|
0.00003
|
|
NM_004408.4(DNM1):c.1917C>T (p.Thr639=)
|
rs528464319
|
0.00003
|
|
NM_004408.4(DNM1):c.2322G>T (p.Ser774=)
|
rs566718787
|
0.00003
|
|
NM_004408.4(DNM1):c.2427G>T (p.Leu809=)
|
rs897409469
|
0.00003
|
|
NM_004408.4(DNM1):c.387G>A (p.Val129=)
|
rs758325864
|
0.00003
|
|
NM_004408.4(DNM1):c.678C>G (p.Pro226=)
|
rs150094408
|
0.00003
|
|
NM_004408.4(DNM1):c.812G>A (p.Arg271His)
|
rs201656136
|
0.00003
|
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
|
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg)
|
rs369711837
|
0.00003
|
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
|
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val)
|
rs201823591
|
0.00003
|
|
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu)
|
rs377656387
|
0.00003
|
|
NM_004453.4(ETFDH):c.1468+12_1468+13del
|
rs769120603
|
0.00003
|
|
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu)
|
rs752947878
|
0.00003
|
|
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
|
rs566844923
|
0.00003
|
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
|
NM_004453.4(ETFDH):c.606+14T>C
|
rs139113830
|
0.00003
|
|
NM_004453.4(ETFDH):c.642T>C (p.Ile214=)
|
rs201049444
|
0.00003
|
|
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
|
rs562079045
|
0.00003
|
|
NM_004453.4(ETFDH):c.88G>A (p.Ala30Thr)
|
rs1340326448
|
0.00003
|
|
NM_004483.5(GCSH):c.129T>C (p.Thr43=)
|
rs867378019
|
0.00003
|
|
NM_004483.5(GCSH):c.77G>A (p.Cys26Tyr)
|
rs1443267686
|
0.00003
|
|
NM_004577.4(PSPH):c.371A>G (p.Asn124Ser)
|
rs761409780
|
0.00003
|
|
NM_004937.3(CTNS):c.117G>A (p.Ser39=)
|
rs765428193
|
0.00003
|
|
NM_004937.3(CTNS):c.461+8C>T
|
rs368822078
|
0.00003
|
|
NM_004937.3(CTNS):c.621C>T (p.Phe207=)
|
rs749428707
|
0.00003
|
|
NM_004937.3(CTNS):c.726G>C (p.Val242=)
|
rs777045218
|
0.00003
|
|
NM_004937.3(CTNS):c.831G>T (p.Thr277=)
|
rs533147998
|
0.00003
|
|
NM_004937.3(CTNS):c.951C>T (p.Phe317=)
|
rs770096901
|
0.00003
|
|
NM_004974.4(KCNA2):c.1215G>A (p.Pro405=)
|
rs368489072
|
0.00003
|
|
NM_004974.4(KCNA2):c.363A>G (p.Glu121=)
|
rs747745503
|
0.00003
|
|
NM_004975.4(KCNB1):c.168G>T (p.Arg56=)
|
rs780529809
|
0.00003
|
|
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu)
|
rs936778119
|
0.00003
|
|
NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr)
|
rs779750227
|
0.00003
|
|
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met)
|
rs565025643
|
0.00003
|
|
NM_004975.4(KCNB1):c.598G>A (p.Val200Ile)
|
rs748573940
|
0.00003
|
|
NM_005050.4(ABCD4):c.1028+9G>A
|
rs982830151
|
0.00003
|
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
|
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
|
rs763882047
|
0.00003
|
|
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
|
rs371692280
|
0.00003
|
|
NM_005050.4(ABCD4):c.425+7G>A
|
rs375608814
|
0.00003
|
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
|
NM_005327.7(HADH):c.714C>T (p.Asp238=)
|
rs201739885
|
0.00003
|
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
|
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
|
rs201491358
|
0.00003
|
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
|
NM_005334.3(HCFC1):c.5379+20G>A
|
rs371712410
|
0.00003
|
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
|
NM_005518.4(HMGCS2):c.1016+10C>T
|
rs770388243
|
0.00003
|
|
NM_005518.4(HMGCS2):c.105-3C>T
|
rs1035647830
|
0.00003
|
|
NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp)
|
rs780044819
|
0.00003
|
|
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln)
|
rs372095379
|
0.00003
|
|
NM_005518.4(HMGCS2):c.880G>A (p.Asp294Asn)
|
rs144103604
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1017-5C>T
|
rs782402297
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1021G>A (p.Ala341Thr)
|
rs782741852
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1047T>C (p.Ser349=)
|
rs372928878
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1161C>T (p.Ile387=)
|
rs782582952
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val)
|
rs782551106
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1474G>A (p.Val492Met)
|
rs782478865
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1541G>A (p.Arg514Gln)
|
rs782361856
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr)
|
rs797045971
|
0.00003
|
|
NM_005629.4(SLC6A8):c.180C>T (p.Asp60=)
|
rs781939862
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=)
|
rs782748657
|
0.00003
|
|
NM_005629.4(SLC6A8):c.1870G>A (p.Glu624Lys)
|
rs368555229
|
0.00003
|
|
NM_005629.4(SLC6A8):c.234C>T (p.Phe78=)
|
rs1229187797
|
0.00003
|
|
NM_005629.4(SLC6A8):c.409T>G (p.Ser137Ala)
|
rs782360920
|
0.00003
|
|
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=)
|
rs144904949
|
0.00003
|
|
NM_005629.4(SLC6A8):c.633C>T (p.Ile211=)
|
rs781806055
|
0.00003
|
|
NM_005881.4(BCKDK):c.654C>T (p.Val218=)
|
rs368040635
|
0.00003
|
|
NM_005957.5(MTHFR):c.1068G>A (p.Lys356=)
|
rs749442724
|
0.00003
|
|
NM_005957.5(MTHFR):c.1368C>T (p.Asn456=)
|
rs201105692
|
0.00003
|
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
|
NM_005957.5(MTHFR):c.1411C>T (p.Leu471=)
|
rs370996045
|
0.00003
|
|
NM_005957.5(MTHFR):c.1467C>T (p.Asn489=)
|
rs374026519
|
0.00003
|
|
NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp)
|
rs764131110
|
0.00003
|
|
NM_005957.5(MTHFR):c.1699C>T (p.Arg567Ter)
|
rs140277700
|
0.00003
|
|
NM_005957.5(MTHFR):c.1743G>A (p.Met581Ile)
|
rs45590836
|
0.00003
|
|
NM_005957.5(MTHFR):c.1752+11C>T
|
rs45598534
|
0.00003
|
|
NM_005957.5(MTHFR):c.18A>G (p.Arg6=)
|
rs748686763
|
0.00003
|
|
NM_005957.5(MTHFR):c.237-9C>T
|
rs765794234
|
0.00003
|
|
NM_005957.5(MTHFR):c.756C>T (p.Ile252=)
|
rs1379249594
|
0.00003
|
|
NM_005957.5(MTHFR):c.783C>G (p.Gly261=)
|
rs960207316
|
0.00003
|
|
NM_005957.5(MTHFR):c.819G>A (p.Lys273=)
|
rs757497217
|
0.00003
|
|
NM_005957.5(MTHFR):c.867C>A (p.Asp289Glu)
|
rs139786244
|
0.00003
|
|
NM_005957.5(MTHFR):c.918C>T (p.Cys306=)
|
rs45498098
|
0.00003
|
|
NM_006623.4(PHGDH):c.1044G>T (p.Gly348=)
|
rs761417256
|
0.00003
|
|
NM_006623.4(PHGDH):c.1224C>T (p.His408=)
|
rs746907048
|
0.00003
|
|
NM_006623.4(PHGDH):c.139-17T>A
|
rs191621265
|
0.00003
|
|
NM_006623.4(PHGDH):c.1401A>G (p.Leu467=)
|
rs768039058
|
0.00003
|
|
NM_006623.4(PHGDH):c.226G>T (p.Ala76Ser)
|
rs200509653
|
0.00003
|
|
NM_006623.4(PHGDH):c.486C>A (p.Thr162=)
|
rs1054405028
|
0.00003
|
|
NM_006623.4(PHGDH):c.644-13C>T
|
rs761863796
|
0.00003
|
|
NM_006623.4(PHGDH):c.718G>A (p.Val240Met)
|
rs765276824
|
0.00003
|
|
NM_006623.4(PHGDH):c.802C>T (p.Arg268Trp)
|
rs142622658
|
0.00003
|
|
NM_006623.4(PHGDH):c.903T>G (p.Val301=)
|
rs777075726
|
0.00003
|
|
NM_006623.4(PHGDH):c.932C>T (p.Ser311Phe)
|
rs143340742
|
0.00003
|
|
NM_006623.4(PHGDH):c.980C>T (p.Pro327Leu)
|
rs778021683
|
0.00003
|
|
NM_006859.4(LIAS):c.110A>T (p.Glu37Val)
|
rs763606110
|
0.00003
|
|
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)
|
rs761295906
|
0.00003
|
|
NM_006859.4(LIAS):c.168G>A (p.Arg56=)
|
rs768182597
|
0.00003
|
|
NM_006859.4(LIAS):c.375C>T (p.Thr125=)
|
rs538035764
|
0.00003
|
|
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)
|
rs74528014
|
0.00003
|
|
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr)
|
rs751421705
|
0.00003
|
|
NM_006859.4(LIAS):c.737+1G>A
|
rs546751789
|
0.00003
|
|
NM_006859.4(LIAS):c.738-20A>G
|
rs777702565
|
0.00003
|
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
|
NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp)
|
rs376324546
|
0.00003
|
|
NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys)
|
rs368099850
|
0.00003
|
|
NM_012213.3(MLYCD):c.1255G>A (p.Val419Met)
|
rs773101554
|
0.00003
|
|
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=)
|
rs534173407
|
0.00003
|
|
NM_012213.3(MLYCD):c.505C>T (p.Leu169=)
|
rs771885443
|
0.00003
|
|
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser)
|
rs915124487
|
0.00003
|
|
NM_012213.3(MLYCD):c.762C>T (p.His254=)
|
rs773274796
|
0.00003
|
|
NM_012213.3(MLYCD):c.894C>G (p.Leu298=)
|
rs368719157
|
0.00003
|
|
NM_012213.3(MLYCD):c.949-8C>G
|
rs1314128180
|
0.00003
|
|
NM_014251.3(SLC25A13):c.1063C>T (p.Arg355Ter)
|
rs758827458
|
0.00003
|
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
|
NM_014251.3(SLC25A13):c.1311C>T (p.Cys437=)
|
rs879255502
|
0.00003
|
|
NM_014251.3(SLC25A13):c.1505C>T (p.Pro502Leu)
|
rs139149160
|
0.00003
|
|
NM_014251.3(SLC25A13):c.158C>T (p.Pro53Leu)
|
rs753950441
|
0.00003
|
|
NM_014251.3(SLC25A13):c.1658G>A (p.Arg553Gln)
|
rs201283753
|
0.00003
|
|
NM_014251.3(SLC25A13):c.1711C>T (p.Arg571Cys)
|
rs753626243
|
0.00003
|
|
NM_014251.3(SLC25A13):c.212+16A>C
|
rs780250852
|
0.00003
|
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
|
NM_014252.4(SLC25A15):c.337G>A (p.Gly113Ser)
|
rs199894905
|
0.00003
|
|
NM_014252.4(SLC25A15):c.453-8C>T
|
rs368094314
|
0.00003
|
|
NM_014252.4(SLC25A15):c.677C>T (p.Ala226Val)
|
rs776523157
|
0.00003
|
|
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=)
|
rs146145710
|
0.00003
|
|
NM_014384.3(ACAD8):c.730C>T (p.Arg244Ter)
|
rs746960051
|
0.00003
|
|
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
|
rs763931975
|
0.00003
|
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
|
NM_015506.3(MMACHC):c.831T>C (p.Pro277=)
|
rs1322086708
|
0.00003
|
|
NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys)
|
rs202044480
|
0.00003
|
|
NM_015509.4(NECAP1):c.161A>C (p.Lys54Thr)
|
rs755337455
|
0.00003
|
|
NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys)
|
rs1016693316
|
0.00003
|
|
NM_015509.4(NECAP1):c.492+7A>G
|
rs1449501710
|
0.00003
|
|
NM_015509.4(NECAP1):c.562C>A (p.Pro188Thr)
|
rs775614356
|
0.00003
|
|
NM_015509.4(NECAP1):c.804G>A (p.Gln268=)
|
rs112884329
|
0.00003
|
|
NM_015662.3(IFT172):c.1056C>G (p.His352Gln)
|
rs145847794
|
0.00003
|
|
NM_015662.3(IFT172):c.1222-5C>T
|
rs920680020
|
0.00003
|
|
NM_015662.3(IFT172):c.1325+11A>G
|
rs767955758
|
0.00003
|
|
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg)
|
rs866980509
|
0.00003
|
|
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp)
|
rs374979653
|
0.00003
|
|
NM_015662.3(IFT172):c.1585A>G (p.Met529Val)
|
rs745382278
|
0.00003
|
|
NM_015662.3(IFT172):c.1693-15G>A
|
rs1214000278
|
0.00003
|
|
NM_015662.3(IFT172):c.1893G>A (p.Leu631=)
|
rs774534899
|
0.00003
|
|
NM_015662.3(IFT172):c.2388A>G (p.Thr796=)
|
rs750450341
|
0.00003
|
|
NM_015662.3(IFT172):c.2681G>A (p.Arg894His)
|
rs561927411
|
0.00003
|
|
NM_015662.3(IFT172):c.2744A>G (p.Tyr915Cys)
|
rs749474609
|
0.00003
|
|
NM_015662.3(IFT172):c.2819G>A (p.Arg940Gln)
|
rs761248577
|
0.00003
|
|
NM_015662.3(IFT172):c.2873A>C (p.His958Pro)
|
rs748358110
|
0.00003
|
|
NM_015662.3(IFT172):c.297-13T>C
|
rs376856549
|
0.00003
|
|
NM_015662.3(IFT172):c.2975+14C>T
|
rs764978738
|
0.00003
|
|
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln)
|
rs201607202
|
0.00003
|
|
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=)
|
rs751712354
|
0.00003
|
|
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys)
|
rs763117647
|
0.00003
|
|
NM_015662.3(IFT172):c.335C>T (p.Thr112Met)
|
rs191146686
|
0.00003
|
|
NM_015662.3(IFT172):c.336G>A (p.Thr112=)
|
rs1158316267
|
0.00003
|
|
NM_015662.3(IFT172):c.357A>G (p.Gln119=)
|
rs749934202
|
0.00003
|
|
NM_015662.3(IFT172):c.3597C>T (p.Val1199=)
|
rs371169770
|
0.00003
|
|
NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys)
|
rs747872724
|
0.00003
|
|
NM_015662.3(IFT172):c.3822-16G>A
|
rs373661630
|
0.00003
|
|
NM_015662.3(IFT172):c.4051-9A>G
|
rs772647033
|
0.00003
|
|
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val)
|
rs376824384
|
0.00003
|
|
NM_015662.3(IFT172):c.4161-16C>T
|
rs573518240
|
0.00003
|
|
NM_015662.3(IFT172):c.4225-18dup
|
rs773571606
|
0.00003
|
|
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp)
|
rs142312837
|
0.00003
|
|
NM_015662.3(IFT172):c.456G>A (p.Glu152=)
|
rs771141815
|
0.00003
|
|
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met)
|
rs202181028
|
0.00003
|
|
NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)
|
rs370933808
|
0.00003
|
|
NM_015662.3(IFT172):c.4815+19C>T
|
rs371490518
|
0.00003
|
|
NM_015662.3(IFT172):c.4914G>A (p.Pro1638=)
|
rs374531022
|
0.00003
|
|
NM_015662.3(IFT172):c.4915-17C>T
|
rs1431263019
|
0.00003
|
|
NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr)
|
rs146575848
|
0.00003
|
|
NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln)
|
rs773691500
|
0.00003
|
|
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys)
|
rs768237211
|
0.00003
|
|
NM_015662.3(IFT172):c.631G>A (p.Val211Met)
|
rs757478657
|
0.00003
|
|
NM_015662.3(IFT172):c.707G>A (p.Arg236His)
|
rs768290728
|
0.00003
|
|
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln)
|
rs779572697
|
0.00003
|
|
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)
|
rs568736482
|
0.00003
|
|
NM_016335.6(PRODH):c.1652A>C (p.Tyr551Ser)
|
rs142346005
|
0.00003
|
|
NM_016335.6(PRODH):c.338T>A (p.Phe113Tyr)
|
rs372030860
|
0.00003
|
|
NM_016335.6(PRODH):c.391C>T (p.Arg131Trp)
|
rs753625227
|
0.00003
|
|
NM_016335.6(PRODH):c.417C>T (p.Ser139=)
|
rs1414061185
|
0.00003
|
|
NM_016335.6(PRODH):c.80G>T (p.Arg27Leu)
|
rs1411529753
|
0.00003
|
|
NM_016579.4(CD320):c.731C>T (p.Thr244Ile)
|
rs557939985
|
0.00003
|
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
|
NM_018706.7(DHTKD1):c.1093A>T (p.Asn365Tyr)
|
rs747758630
|
0.00003
|
|
NM_018706.7(DHTKD1):c.155-20T>A
|
rs777435388
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2008A>G (p.Asn670Asp)
|
rs149034097
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2016C>T (p.Ala672=)
|
rs750587155
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2048-16C>T
|
rs752596009
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2250G>A (p.Arg750=)
|
rs371391583
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu)
|
rs200355418
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2325C>T (p.Ala775=)
|
rs755569908
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2403-7C>G
|
rs552132988
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2585G>T (p.Ser862Ile)
|
rs145082960
|
0.00003
|
|
NM_018706.7(DHTKD1):c.2652C>T (p.Ala884=)
|
rs755776129
|
0.00003
|
|
NM_018706.7(DHTKD1):c.305C>T (p.Thr102Met)
|
rs769632958
|
0.00003
|
|
NM_018706.7(DHTKD1):c.311-20C>G
|
rs368615319
|
0.00003
|
|
NM_018706.7(DHTKD1):c.420G>C (p.Gln140His)
|
rs953186201
|
0.00003
|
|
NM_018706.7(DHTKD1):c.508A>C (p.Met170Leu)
|
rs369465951
|
0.00003
|
|
NM_018706.7(DHTKD1):c.555G>A (p.Ser185=)
|
rs1157871671
|
0.00003
|
|
NM_018706.7(DHTKD1):c.610G>A (p.Glu204Lys)
|
rs751438050
|
0.00003
|
|
NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu)
|
rs780598300
|
0.00003
|
|
NM_018706.7(DHTKD1):c.988-18C>T
|
rs371869013
|
0.00003
|
|
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
|
rs368135707
|
0.00003
|
|
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
|
rs769780560
|
0.00003
|
|
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln)
|
rs761249521
|
0.00003
|
|
NM_020166.5(MCCC1):c.1314C>T (p.Val438=)
|
rs774243822
|
0.00003
|
|
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=)
|
rs757687424
|
0.00003
|
|
NM_020166.5(MCCC1):c.1377+17C>T
|
rs375624644
|
0.00003
|
|
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
|
rs547421709
|
0.00003
|
|
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)
|
rs727504002
|
0.00003
|
|
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
|
rs768011454
|
0.00003
|
|
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
|
rs182830931
|
0.00003
|
|
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)
|
rs905321122
|
0.00003
|
|
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
|
rs370727510
|
0.00003
|
|
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly)
|
rs992786696
|
0.00003
|
|
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
|
rs776138490
|
0.00003
|
|
NM_020166.5(MCCC1):c.300C>T (p.Pro100=)
|
rs747409426
|
0.00003
|
|
NM_020166.5(MCCC1):c.492-5T>C
|
rs775353666
|
0.00003
|
|
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
|
rs757362635
|
0.00003
|
|
NM_020166.5(MCCC1):c.759G>A (p.Pro253=)
|
rs761851977
|
0.00003
|
|
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
|
rs760268547
|
0.00003
|
|
NM_020166.5(MCCC1):c.873G>A (p.Ala291=)
|
rs138794621
|
0.00003
|
|
NM_020166.5(MCCC1):c.90-20C>T
|
rs369103962
|
0.00003
|
|
NM_020686.6(ABAT):c.1053C>T (p.Asp351=)
|
rs772233141
|
0.00003
|
|
NM_020686.6(ABAT):c.1123-15C>T
|
rs376574278
|
0.00003
|
|
NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu)
|
rs775339966
|
0.00003
|
|
NM_020686.6(ABAT):c.1349G>A (p.Arg450Gln)
|
rs374692453
|
0.00003
|
|
NM_020686.6(ABAT):c.168+13C>T
|
rs759610129
|
0.00003
|
|
NM_020686.6(ABAT):c.317-8G>C
|
rs747682160
|
0.00003
|
|
NM_020686.6(ABAT):c.331G>A (p.Ala111Thr)
|
rs150783272
|
0.00003
|
|
NM_020686.6(ABAT):c.447+13G>A
|
rs200598762
|
0.00003
|
|
NM_020686.6(ABAT):c.561G>C (p.Arg187Ser)
|
rs141279192
|
0.00003
|
|
NM_020686.6(ABAT):c.56G>A (p.Arg19His)
|
rs780368959
|
0.00003
|
|
NM_020686.6(ABAT):c.678G>A (p.Ala226=)
|
rs112564762
|
0.00003
|
|
NM_020686.6(ABAT):c.70+10G>A
|
rs553745013
|
0.00003
|
|
NM_020686.6(ABAT):c.708C>T (p.Ile236=)
|
rs778110660
|
0.00003
|
|
NM_020686.6(ABAT):c.771G>C (p.Glu257Asp)
|
rs369478103
|
0.00003
|
|
NM_020686.6(ABAT):c.857C>T (p.Thr286Met)
|
rs778229930
|
0.00003
|
|
NM_020686.6(ABAT):c.909C>T (p.His303=)
|
rs532330605
|
0.00003
|
|
NM_020686.6(ABAT):c.990C>T (p.Thr330=)
|
rs369874487
|
0.00003
|
|
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
|
rs201238842
|
0.00003
|
|
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=)
|
rs1049308310
|
0.00003
|
|
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
|
rs767326357
|
0.00003
|
|
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=)
|
rs1266022580
|
0.00003
|
|
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
|
rs137961577
|
0.00003
|
|
NM_022132.5(MCCC2):c.219A>C (p.Ala73=)
|
rs1048291170
|
0.00003
|
|
NM_022132.5(MCCC2):c.25C>T (p.Leu9=)
|
rs1285116638
|
0.00003
|
|
NM_022132.5(MCCC2):c.282-8C>T
|
rs574221691
|
0.00003
|
|
NM_022132.5(MCCC2):c.637A>G (p.Met213Val)
|
rs769875413
|
0.00003
|
|
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
|
rs760420191
|
0.00003
|
|
NM_022132.5(MCCC2):c.700C>T (p.Arg234Cys)
|
rs549784997
|
0.00003
|
|
NM_022132.5(MCCC2):c.864G>A (p.Arg288=)
|
rs368236133
|
0.00003
|
|
NM_022132.5(MCCC2):c.999+8A>G
|
rs575141754
|
0.00003
|
|
NM_025136.4(OPA3):c.143-5C>A
|
rs770452409
|
0.00003
|
|
NM_025136.4(OPA3):c.39C>T (p.Tyr13=)
|
rs374843726
|
0.00003
|
|
NM_025136.4(OPA3):c.526G>A (p.Ala176Thr)
|
rs755841329
|
0.00003
|
|
NM_032601.4(MCEE):c.10G>T (p.Val4Leu)
|
rs202194538
|
0.00003
|
|
NM_032601.4(MCEE):c.166C>T (p.Pro56Ser)
|
rs187576440
|
0.00003
|
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
|
NM_032861.4(SERAC1):c.1292C>T (p.Thr431Met)
|
rs779852958
|
0.00003
|
|
NM_032861.4(SERAC1):c.1428C>T (p.Asn476=)
|
rs774371194
|
0.00003
|
|
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
|
rs201941476
|
0.00003
|
|
NM_032861.4(SERAC1):c.329C>T (p.Ala110Val)
|
rs368403843
|
0.00003
|
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00003
|
|
NM_052845.4(MMAB):c.507C>T (p.Ala169=)
|
rs776916498
|
0.00003
|
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
|
NM_052845.4(MMAB):c.644+9G>A
|
rs748589454
|
0.00003
|
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
|
NM_054012.4(ASS1):c.1057G>A (p.Val353Ile)
|
rs754285392
|
0.00003
|
|
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter)
|
rs756859126
|
0.00003
|
|
NM_054012.4(ASS1):c.132C>T (p.Phe44=)
|
rs761408245
|
0.00003
|
|
NM_054012.4(ASS1):c.151G>A (p.Ala51Thr)
|
rs142350255
|
0.00003
|
|
NM_054012.4(ASS1):c.175-4G>A
|
rs370817871
|
0.00003
|
|
NM_054012.4(ASS1):c.190G>A (p.Val64Ile)
|
rs556297791
|
0.00003
|
|
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys)
|
rs370695114
|
0.00003
|
|
NM_054012.4(ASS1):c.33C>T (p.Tyr11=)
|
rs574820010
|
0.00003
|
|
NM_054012.4(ASS1):c.495+8C>T
|
rs762250168
|
0.00003
|
|
NM_054012.4(ASS1):c.570C>T (p.Tyr190=)
|
rs758481857
|
0.00003
|
|
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys)
|
rs777828000
|
0.00003
|
|
NM_054012.4(ASS1):c.607C>A (p.Pro203Thr)
|
rs147858743
|
0.00003
|
|
NM_054012.4(ASS1):c.688+10C>T
|
rs890497211
|
0.00003
|
|
NM_054012.4(ASS1):c.772G>A (p.Ala258Thr)
|
rs765748014
|
0.00003
|
|
NM_054012.4(ASS1):c.786C>T (p.Gly262=)
|
rs536799104
|
0.00003
|
|
NM_054012.4(ASS1):c.849G>A (p.Glu283=)
|
rs569267797
|
0.00003
|
|
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser)
|
rs121908639
|
0.00003
|
|
NM_058179.4(PSAT1):c.1025G>A (p.Arg342Gln)
|
rs748711682
|
0.00003
|
|
NM_058179.4(PSAT1):c.1111T>C (p.Ter371Arg)
|
rs756701004
|
0.00003
|
|
NM_058179.4(PSAT1):c.240C>T (p.Cys80=)
|
rs371446138
|
0.00003
|
|
NM_058179.4(PSAT1):c.338A>T (p.Glu113Val)
|
rs373888510
|
0.00003
|
|
NM_058179.4(PSAT1):c.43G>C (p.Ala15Pro)
|
rs774962204
|
0.00003
|
|
NM_058179.4(PSAT1):c.467C>T (p.Thr156Met)
|
rs369944396
|
0.00003
|
|
NM_058179.4(PSAT1):c.478G>A (p.Val160Met)
|
rs765810685
|
0.00003
|
|
NM_058179.4(PSAT1):c.740+10G>A
|
rs553502763
|
0.00003
|
|
NM_058179.4(PSAT1):c.748G>A (p.Val250Ile)
|
rs368071286
|
0.00003
|
|
NM_058179.4(PSAT1):c.869+9A>G
|
rs368990190
|
0.00003
|
|
NM_058179.4(PSAT1):c.870-1G>T
|
rs376824714
|
0.00003
|
|
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His)
|
rs756192515
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
|
rs374020825
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe)
|
rs995331214
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu)
|
rs762498109
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1129-6A>G
|
rs777965568
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)
|
rs775078211
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1250+11C>A
|
rs185075731
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
|
rs765410268
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
|
rs746875137
|
0.00003
|
|
NM_152419.3(HGSNAT):c.1542+20C>T
|
rs548171657
|
0.00003
|
|
NM_152419.3(HGSNAT):c.234+17A>G
|
rs1177889475
|
0.00003
|
|
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
|
rs368082613
|
0.00003
|
|
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)
|
rs138736400
|
0.00003
|
|
NM_152419.3(HGSNAT):c.563+20C>T
|
rs367934394
|
0.00003
|
|
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
|
rs561712734
|
0.00003
|
|
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)
|
rs200416815
|
0.00003
|
|
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
|
rs376484914
|
0.00003
|
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
|
NM_152542.5(PPM1K):c.110C>T (p.Thr37Met)
|
rs537053098
|
0.00003
|
|
NM_152542.5(PPM1K):c.174A>G (p.Pro58=)
|
rs569624511
|
0.00003
|
|
NM_152542.5(PPM1K):c.759C>T (p.His253=)
|
rs146016106
|
0.00003
|
|
NM_153006.3(NAGS):c.1038C>T (p.His346=)
|
rs754276418
|
0.00003
|
|
NM_153006.3(NAGS):c.1311G>T (p.Gly437=)
|
rs762358574
|
0.00003
|
|
NM_153006.3(NAGS):c.1416C>T (p.Phe472=)
|
rs769484401
|
0.00003
|
|
NM_153006.3(NAGS):c.1479C>T (p.Phe493=)
|
rs551970622
|
0.00003
|
|
NM_153006.3(NAGS):c.376C>A (p.Gln126Lys)
|
rs942089643
|
0.00003
|
|
NM_153006.3(NAGS):c.80G>A (p.Gly27Asp)
|
rs755538430
|
0.00003
|
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
|
NM_172250.3(MMAA):c.563-12T>C
|
rs199938583
|
0.00003
|
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
|
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
|
rs759947234
|
0.00003
|
|
NM_172250.3(MMAA):c.970-5G>A
|
rs370814663
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1062C>T (p.Val354=)
|
rs908065981
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1172T>C (p.Phe391Ser)
|
rs777258503
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1206C>T (p.Thr402=)
|
rs143869456
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1281G>A (p.Ser427=)
|
rs377534564
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1290C>T (p.Ser430=)
|
rs756166033
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1334C>T (p.Pro445Leu)
|
rs558866003
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1450G>A (p.Gly484Ser)
|
rs779942374
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1485C>G (p.Thr495=)
|
rs907914369
|
0.00003
|
|
NM_177550.5(SLC13A5):c.1645C>T (p.Arg549Trp)
|
rs770090939
|
0.00003
|
|
NM_177550.5(SLC13A5):c.207C>T (p.Leu69=)
|
rs560691044
|
0.00003
|
|
NM_177550.5(SLC13A5):c.305G>A (p.Arg102His)
|
rs764688100
|
0.00003
|
|
NM_177550.5(SLC13A5):c.368+9G>A
|
rs764226590
|
0.00003
|
|
NM_177550.5(SLC13A5):c.499G>A (p.Glu167Lys)
|
rs373010067
|
0.00003
|
|
NM_177550.5(SLC13A5):c.602G>A (p.Arg201Gln)
|
rs200275193
|
0.00003
|
|
NM_177550.5(SLC13A5):c.654C>T (p.Ile218=)
|
rs547998800
|
0.00003
|
|
NM_177550.5(SLC13A5):c.877A>G (p.Lys293Glu)
|
rs759034052
|
0.00003
|
|
NM_177550.5(SLC13A5):c.906G>T (p.Leu302=)
|
rs1334051824
|
0.00003
|
|
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)
|
rs398124572
|
0.00003
|
|
NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)
|
rs769876670
|
0.00003
|
|
NM_201253.3(CRB1):c.1480C>T (p.Leu494=)
|
rs530821170
|
0.00003
|
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
|
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter)
|
rs1409490389
|
0.00003
|
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
|
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys)
|
rs746307301
|
0.00003
|
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
|
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro)
|
rs751018219
|
0.00003
|
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
|
NM_201253.3(CRB1):c.2925T>C (p.Asn975=)
|
rs1413108078
|
0.00003
|
|
NM_201253.3(CRB1):c.2979A>G (p.Glu993=)
|
rs557653092
|
0.00003
|
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
|
NM_201253.3(CRB1):c.3318T>C (p.Tyr1106=)
|
rs186077696
|
0.00003
|
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
|
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)
|
rs147924782
|
0.00003
|
|
NM_201253.3(CRB1):c.3702T>C (p.Asn1234=)
|
rs747978870
|
0.00003
|
|
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)
|
rs754054234
|
0.00003
|
|
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter)
|
rs763324776
|
0.00003
|
|
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser)
|
rs772447283
|
0.00003
|
|
NM_205861.3(DHDDS):c.219G>A (p.Val73=)
|
rs771438629
|
0.00003
|
|
NM_205861.3(DHDDS):c.271G>C (p.Asp91His)
|
rs773154382
|
0.00003
|
|
NM_205861.3(DHDDS):c.273C>T (p.Asp91=)
|
rs201045286
|
0.00003
|
|
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)
|
rs754564043
|
0.00003
|
|
NM_205861.3(DHDDS):c.308G>A (p.Arg103His)
|
rs115712846
|
0.00003
|
|
NM_205861.3(DHDDS):c.404T>C (p.Ile135Thr)
|
rs200277808
|
0.00003
|
|
NM_205861.3(DHDDS):c.441-10C>T
|
rs763275058
|
0.00003
|
|
NM_205861.3(DHDDS):c.651A>G (p.Leu217=)
|
rs1296634591
|
0.00003
|
|
NM_205861.3(DHDDS):c.688G>A (p.Val230Ile)
|
rs143075758
|
0.00003
|
|
NM_205861.3(DHDDS):c.74T>G (p.Met25Arg)
|
rs751817404
|
0.00003
|
|
NC_000022.11:g.40345716C>T
|
rs978423465
|
0.00002
|
|
NC_000022.11:g.40346060T>C
|
rs998527385
|
0.00002
|
|
NC_000022.11:g.40346240T>C
|
rs752718206
|
0.00002
|
|
NC_000022.11:g.40346280T>A
|
rs1301796620
|
0.00002
|
|
NC_000022.11:g.40346408C>A
|
rs962543409
|
0.00002
|
|
NC_000022.11:g.40346417C>T
|
rs951357741
|
0.00002
|
|
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met)
|
rs201809827
|
0.00002
|
|
NM_000016.6(ACADM):c.12G>C (p.Gly4=)
|
rs757845443
|
0.00002
|
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
|
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr)
|
rs398123074
|
0.00002
|
|
NM_000016.6(ACADM):c.234T>G (p.Ile78Met)
|
rs1158457053
|
0.00002
|
|
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly)
|
rs758476299
|
0.00002
|
|
NM_000016.6(ACADM):c.244dup (p.Trp82fs)
|
rs786204566
|
0.00002
|
|
NM_000016.6(ACADM):c.276A>G (p.Pro92=)
|
rs1212443202
|
0.00002
|
|
NM_000016.6(ACADM):c.393G>A (p.Met131Ile)
|
rs368773005
|
0.00002
|
|
NM_000016.6(ACADM):c.474T>C (p.Tyr158=)
|
rs757198475
|
0.00002
|
|
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp)
|
rs773677327
|
0.00002
|
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
|
NM_000016.6(ACADM):c.617G>A (p.Arg206His)
|
rs200724875
|
0.00002
|
|
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly)
|
rs764268346
|
0.00002
|
|
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr)
|
rs758111285
|
0.00002
|
|
NM_000016.6(ACADM):c.6A>C (p.Ala2=)
|
rs752190688
|
0.00002
|
|
NM_000016.6(ACADM):c.709-13A>G
|
rs746483754
|
0.00002
|
|
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys)
|
rs768884003
|
0.00002
|
|
NM_000016.6(ACADM):c.798C>T (p.Asp266=)
|
rs765170454
|
0.00002
|
|
NM_000016.6(ACADM):c.927C>T (p.Phe309=)
|
rs771550655
|
0.00002
|
|
NM_000016.6(ACADM):c.984del (p.Met328fs)
|
rs747610156
|
0.00002
|
|
NM_000017.4(ACADS):c.1105G>A (p.Gly369Ser)
|
rs145466253
|
0.00002
|
|
NM_000017.4(ACADS):c.1231C>T (p.Arg411Trp)
|
rs369416846
|
0.00002
|
|
NM_000017.4(ACADS):c.161T>C (p.Phe54Ser)
|
rs749775207
|
0.00002
|
|
NM_000017.4(ACADS):c.226G>A (p.Gly76Arg)
|
rs774801839
|
0.00002
|
|
NM_000017.4(ACADS):c.360+1G>A
|
rs1018117461
|
0.00002
|
|
NM_000017.4(ACADS):c.46+15G>A
|
rs777164036
|
0.00002
|
|
NM_000017.4(ACADS):c.579G>A (p.Ser193=)
|
rs777162096
|
0.00002
|
|
NM_000017.4(ACADS):c.778G>T (p.Gly260Cys)
|
rs759856061
|
0.00002
|
|
NM_000017.4(ACADS):c.826G>A (p.Ala276Thr)
|
rs199717731
|
0.00002
|
|
NM_000017.4(ACADS):c.933+14C>G
|
rs753402878
|
0.00002
|
|
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)
|
rs1356652354
|
0.00002
|
|
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)
|
rs779458466
|
0.00002
|
|
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)
|
rs772014118
|
0.00002
|
|
NM_000018.4(ACADVL):c.1177A>G (p.Thr393Ala)
|
rs199840831
|
0.00002
|
|
NM_000018.4(ACADVL):c.1236G>C (p.Gln412His)
|
rs745355288
|
0.00002
|
|
NM_000018.4(ACADVL):c.1269+8C>G
|
rs766504482
|
0.00002
|
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
|
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)
|
rs138058572
|
0.00002
|
|
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)
|
rs794727111
|
0.00002
|
|
NM_000018.4(ACADVL):c.138+10C>G
|
rs1057523013
|
0.00002
|
|
NM_000018.4(ACADVL):c.138+7C>A
|
rs1462406529
|
0.00002
|
|
NM_000018.4(ACADVL):c.1389G>A (p.Gly463=)
|
rs377305356
|
0.00002
|
|
NM_000018.4(ACADVL):c.1434+7C>T
|
rs748136425
|
0.00002
|
|
NM_000018.4(ACADVL):c.1435-11T>C
|
rs745620433
|
0.00002
|
|
NM_000018.4(ACADVL):c.1504C>G (p.Leu502Val)
|
rs779901247
|
0.00002
|
|
NM_000018.4(ACADVL):c.1555C>G (p.Leu519Val)
|
rs781063725
|
0.00002
|
|
NM_000018.4(ACADVL):c.1614G>A (p.Arg538=)
|
rs144450894
|
0.00002
|
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
|
NM_000018.4(ACADVL):c.1710C>T (p.Asp570=)
|
rs759638134
|
0.00002
|
|
NM_000018.4(ACADVL):c.1751+12G>A
|
rs1380275062
|
0.00002
|
|
NM_000018.4(ACADVL):c.1765C>T (p.Leu589=)
|
rs533344677
|
0.00002
|
|
NM_000018.4(ACADVL):c.1791G>A (p.Gln597=)
|
rs372453844
|
0.00002
|
|
NM_000018.4(ACADVL):c.1827+8T>C
|
rs941400018
|
0.00002
|
|
NM_000018.4(ACADVL):c.1866G>A (p.Gln622=)
|
rs373898227
|
0.00002
|
|
NM_000018.4(ACADVL):c.1915A>C (p.Lys639Gln)
|
rs771122302
|
0.00002
|
|
NM_000018.4(ACADVL):c.273G>A (p.Pro91=)
|
rs778993830
|
0.00002
|
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
|
NM_000018.4(ACADVL):c.342+14C>T
|
rs567468883
|
0.00002
|
|
NM_000018.4(ACADVL):c.423C>T (p.Ala141=)
|
rs757296575
|
0.00002
|
|
NM_000018.4(ACADVL):c.457G>T (p.Val153Leu)
|
rs894284973
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+12C>G
|
rs1057523521
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+8C>T
|
rs1437698813
|
0.00002
|
|
NM_000018.4(ACADVL):c.477+9G>A
|
rs780716056
|
0.00002
|
|
NM_000018.4(ACADVL):c.478-8C>G
|
rs1300294861
|
0.00002
|
|
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)
|
rs754756970
|
0.00002
|
|
NM_000018.4(ACADVL):c.499G>A (p.Val167Met)
|
rs199991742
|
0.00002
|
|
NM_000018.4(ACADVL):c.519C>T (p.Gly173=)
|
rs757830946
|
0.00002
|
|
NM_000018.4(ACADVL):c.622+18G>A
|
rs200740226
|
0.00002
|
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
|
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)
|
rs1231343685
|
0.00002
|
|
NM_000018.4(ACADVL):c.822C>T (p.Ala274=)
|
rs372038260
|
0.00002
|
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
|
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs)
|
rs766192888
|
0.00002
|
|
NM_000018.4(ACADVL):c.940G>A (p.Gly314Arg)
|
rs775669454
|
0.00002
|
|
NM_000018.4(ACADVL):c.951G>T (p.Val317=)
|
rs1183459867
|
0.00002
|
|
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)
|
rs143870522
|
0.00002
|
|
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)
|
rs568118142
|
0.00002
|
|
NM_000019.4(ACAT1):c.105A>G (p.Ser35=)
|
rs1442033328
|
0.00002
|
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
|
NM_000019.4(ACAT1):c.1147C>T (p.Leu383=)
|
rs1407616925
|
0.00002
|
|
NM_000019.4(ACAT1):c.225C>T (p.Ala75=)
|
rs747201837
|
0.00002
|
|
NM_000019.4(ACAT1):c.288A>G (p.Gln96=)
|
rs969770311
|
0.00002
|
|
NM_000019.4(ACAT1):c.342T>A (p.Pro114=)
|
rs941750006
|
0.00002
|
|
NM_000019.4(ACAT1):c.436-7T>C
|
rs775534544
|
0.00002
|
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
|
NM_000019.4(ACAT1):c.579+11T>C
|
rs1191067994
|
0.00002
|
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
|
NM_000019.4(ACAT1):c.687G>A (p.Gly229=)
|
rs545578010
|
0.00002
|
|
NM_000019.4(ACAT1):c.776T>C (p.Val259Ala)
|
rs746059964
|
0.00002
|
|
NM_000019.4(ACAT1):c.941-9T>G
|
rs980651269
|
0.00002
|
|
NM_000026.4(ADSL):c.-49T>C
|
rs1272053459
|
0.00002
|
|
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)
|
rs151095874
|
0.00002
|
|
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)
|
rs752238667
|
0.00002
|
|
NM_000026.4(ADSL):c.1102-17C>T
|
rs754015340
|
0.00002
|
|
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)
|
rs755688868
|
0.00002
|
|
NM_000026.4(ADSL):c.114A>G (p.Thr38=)
|
rs377588571
|
0.00002
|
|
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)
|
rs781253590
|
0.00002
|
|
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)
|
rs770916318
|
0.00002
|
|
NM_000026.4(ADSL):c.1368+10C>T
|
rs1330219053
|
0.00002
|
|
NM_000026.4(ADSL):c.20A>G (p.His7Arg)
|
rs377248090
|
0.00002
|
|
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)
|
rs1329100297
|
0.00002
|
|
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)
|
rs756210458
|
0.00002
|
|
NM_000026.4(ADSL):c.438T>C (p.Ala146=)
|
rs779272702
|
0.00002
|
|
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)
|
rs1262658484
|
0.00002
|
|
NM_000026.4(ADSL):c.541A>G (p.Met181Val)
|
rs768542145
|
0.00002
|
|
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)
|
rs776615568
|
0.00002
|
|
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)
|
rs775115015
|
0.00002
|
|
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)
|
rs1389806424
|
0.00002
|
|
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)
|
rs746501563
|
0.00002
|
|
NM_000026.4(ADSL):c.862+10G>A
|
rs747275092
|
0.00002
|
|
NM_000026.4(ADSL):c.879A>G (p.Pro293=)
|
rs758359453
|
0.00002
|
|
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)
|
rs755059672
|
0.00002
|
|
NM_000026.4(ADSL):c.894C>T (p.Pro298=)
|
rs145469983
|
0.00002
|
|
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)
|
rs369617680
|
0.00002
|
|
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)
|
rs370221257
|
0.00002
|
|
NM_000045.4(ARG1):c.234G>A (p.Glu78=)
|
rs571619062
|
0.00002
|
|
NM_000045.4(ARG1):c.289C>G (p.Leu97Val)
|
rs760319794
|
0.00002
|
|
NM_000045.4(ARG1):c.306-5A>G
|
rs777553747
|
0.00002
|
|
NM_000045.4(ARG1):c.342C>T (p.Val114=)
|
rs751231138
|
0.00002
|
|
NM_000045.4(ARG1):c.349G>A (p.Asp117Asn)
|
rs754655577
|
0.00002
|
|
NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)
|
rs104893947
|
0.00002
|
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
|
NM_000045.4(ARG1):c.411T>C (p.Ser137=)
|
rs759282838
|
0.00002
|
|
NM_000045.4(ARG1):c.525G>A (p.Val175=)
|
rs779060814
|
0.00002
|
|
NM_000045.4(ARG1):c.541G>T (p.Asp181Tyr)
|
rs1472741630
|
0.00002
|
|
NM_000045.4(ARG1):c.612C>A (p.Asp204Glu)
|
rs775435820
|
0.00002
|
|
NM_000045.4(ARG1):c.630G>A (p.Lys210=)
|
rs760873925
|
0.00002
|
|
NM_000045.4(ARG1):c.685C>T (p.Leu229=)
|
rs538034569
|
0.00002
|
|
NM_000045.4(ARG1):c.6C>T (p.Ser2=)
|
rs138584410
|
0.00002
|
|
NM_000045.4(ARG1):c.726A>T (p.Pro242=)
|
rs750244366
|
0.00002
|
|
NM_000045.4(ARG1):c.912C>T (p.Phe304=)
|
rs373480378
|
0.00002
|
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
|
NM_000045.4(ARG1):c.959C>T (p.Pro320Leu)
|
rs1278453710
|
0.00002
|
|
NM_000048.4(ASL):c.1023C>T (p.Ala341=)
|
rs530889593
|
0.00002
|
|
NM_000048.4(ASL):c.1127A>G (p.Tyr376Cys)
|
rs761034915
|
0.00002
|
|
NM_000048.4(ASL):c.1170C>A (p.Ala390=)
|
rs747116101
|
0.00002
|
|
NM_000048.4(ASL):c.1262C>T (p.Ser421Leu)
|
rs148669165
|
0.00002
|
|
NM_000048.4(ASL):c.1323C>T (p.Gly441=)
|
rs749685338
|
0.00002
|
|
NM_000048.4(ASL):c.1371G>A (p.Ala457=)
|
rs375514826
|
0.00002
|
|
NM_000048.4(ASL):c.208-4A>G
|
rs1293737779
|
0.00002
|
|
NM_000048.4(ASL):c.243G>C (p.Leu81=)
|
rs774204716
|
0.00002
|
|
NM_000048.4(ASL):c.294G>A (p.Glu98=)
|
rs778312880
|
0.00002
|
|
NM_000048.4(ASL):c.326C>T (p.Thr109Met)
|
rs146123574
|
0.00002
|
|
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)
|
rs752783461
|
0.00002
|
|
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)
|
rs199938613
|
0.00002
|
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
|
NM_000048.4(ASL):c.498C>T (p.Pro166=)
|
rs1293664442
|
0.00002
|
|
NM_000048.4(ASL):c.524+2T>G
|
rs869312976
|
0.00002
|
|
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)
|
rs752397242
|
0.00002
|
|
NM_000048.4(ASL):c.62T>C (p.Met21Thr)
|
rs774392615
|
0.00002
|
|
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)
|
rs761651320
|
0.00002
|
|
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)
|
rs1449589636
|
0.00002
|
|
NM_000048.4(ASL):c.771C>T (p.Ala257=)
|
rs375586912
|
0.00002
|
|
NM_000048.4(ASL):c.77C>T (p.Ala26Val)
|
rs761046404
|
0.00002
|
|
NM_000048.4(ASL):c.861G>A (p.Lys287=)
|
rs370973627
|
0.00002
|
|
NM_000048.4(ASL):c.870C>G (p.Pro290=)
|
rs764804216
|
0.00002
|
|
NM_000048.4(ASL):c.918+13G>C
|
rs372611875
|
0.00002
|
|
NM_000048.4(ASL):c.918+5G>A
|
rs781331391
|
0.00002
|
|
NM_000048.4(ASL):c.919-4G>A
|
rs756230523
|
0.00002
|
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
|
NM_000071.3(CBS):c.1040-7T>C
|
rs750399521
|
0.00002
|
|
NM_000071.3(CBS):c.1209G>A (p.Thr403=)
|
rs199967147
|
0.00002
|
|
NM_000071.3(CBS):c.1251G>A (p.Leu417=)
|
rs764079534
|
0.00002
|
|
NM_000071.3(CBS):c.1337C>T (p.Ala446Val)
|
rs757347527
|
0.00002
|
|
NM_000071.3(CBS):c.1342G>A (p.Val448Met)
|
rs865989946
|
0.00002
|
|
NM_000071.3(CBS):c.1359-10C>T
|
rs781475420
|
0.00002
|
|
NM_000071.3(CBS):c.1467+10C>T
|
rs778008141
|
0.00002
|
|
NM_000071.3(CBS):c.1593C>T (p.Phe531=)
|
rs768230991
|
0.00002
|
|
NM_000071.3(CBS):c.1605C>T (p.Thr535=)
|
rs769221457
|
0.00002
|
|
NM_000071.3(CBS):c.183C>T (p.Ser61=)
|
rs753906914
|
0.00002
|
|
NM_000071.3(CBS):c.297C>T (p.Phe99=)
|
rs749697783
|
0.00002
|
|
NM_000071.3(CBS):c.301C>G (p.Leu101Val)
|
rs369644531
|
0.00002
|
|
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)
|
rs778220779
|
0.00002
|
|
NM_000071.3(CBS):c.351C>T (p.Ser117=)
|
rs769149281
|
0.00002
|
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
|
NM_000071.3(CBS):c.381T>A (p.Ile127=)
|
rs199824647
|
0.00002
|
|
NM_000071.3(CBS):c.384G>A (p.Glu128=)
|
rs374593242
|
0.00002
|
|
NM_000071.3(CBS):c.405G>A (p.Thr135=)
|
rs940663649
|
0.00002
|
|
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)
|
rs121964966
|
0.00002
|
|
NM_000071.3(CBS):c.441C>T (p.Ser147=)
|
rs367669819
|
0.00002
|
|
NM_000071.3(CBS):c.451+19G>T
|
rs765760722
|
0.00002
|
|
NM_000071.3(CBS):c.51C>T (p.His17=)
|
rs762239336
|
0.00002
|
|
NM_000071.3(CBS):c.532-13T>C
|
rs757869040
|
0.00002
|
|
NM_000071.3(CBS):c.545G>A (p.Arg182Gln)
|
rs138314784
|
0.00002
|
|
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)
|
rs758712880
|
0.00002
|
|
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)
|
rs758703098
|
0.00002
|
|
NM_000071.3(CBS):c.689del (p.Leu230fs)
|
rs775351239
|
0.00002
|
|
NM_000071.3(CBS):c.720C>A (p.Ile240=)
|
rs769024492
|
0.00002
|
|
NM_000071.3(CBS):c.921C>G (p.Gly307=)
|
rs147875876
|
0.00002
|
|
NM_000071.3(CBS):c.925G>A (p.Asp309Asn)
|
rs540013184
|
0.00002
|
|
NM_000071.3(CBS):c.959T>C (p.Val320Ala)
|
rs781567152
|
0.00002
|
|
NM_000071.3(CBS):c.981C>T (p.Asn327=)
|
rs777898632
|
0.00002
|
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
|
NM_000108.5(DLD):c.36C>T (p.Ala12=)
|
rs780127925
|
0.00002
|
|
NM_000108.5(DLD):c.45C>G (p.Gly15=)
|
rs570539642
|
0.00002
|
|
NM_000108.5(DLD):c.528A>T (p.Thr176=)
|
rs1391814799
|
0.00002
|
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
|
NM_000108.5(DLD):c.684+10G>A
|
rs1345267865
|
0.00002
|
|
NM_000108.5(DLD):c.735A>G (p.Leu245=)
|
rs754865063
|
0.00002
|
|
NM_000108.5(DLD):c.901G>A (p.Ala301Thr)
|
rs1466290130
|
0.00002
|
|
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)
|
rs748682601
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
|
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)
|
rs780880209
|
0.00002
|
|
NM_000126.4(ETFA):c.352-8G>T
|
rs767560884
|
0.00002
|
|
NM_000126.4(ETFA):c.39+8C>T
|
rs771448257
|
0.00002
|
|
NM_000126.4(ETFA):c.489G>C (p.Val163=)
|
rs1294335935
|
0.00002
|
|
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)
|
rs199763682
|
0.00002
|
|
NM_000126.4(ETFA):c.734-11T>C
|
rs771704448
|
0.00002
|
|
NM_000126.4(ETFA):c.882+8T>C
|
rs776847997
|
0.00002
|
|
NM_000126.4(ETFA):c.882+9A>G
|
rs373161597
|
0.00002
|
|
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)
|
rs373896010
|
0.00002
|
|
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)
|
rs1225887341
|
0.00002
|
|
NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)
|
rs121965076
|
0.00002
|
|
NM_000137.4(FAH):c.1102A>C (p.Lys368Gln)
|
rs770665329
|
0.00002
|
|
NM_000137.4(FAH):c.1125G>A (p.Leu375=)
|
rs573995081
|
0.00002
|
|
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser)
|
rs1297118863
|
0.00002
|
|
NM_000137.4(FAH):c.315-18C>G
|
rs757360795
|
0.00002
|
|
NM_000137.4(FAH):c.391C>T (p.Arg131Trp)
|
rs147946196
|
0.00002
|
|
NM_000137.4(FAH):c.398A>T (p.His133Leu)
|
rs775152764
|
0.00002
|
|
NM_000137.4(FAH):c.411C>T (p.Val137=)
|
rs757871102
|
0.00002
|
|
NM_000137.4(FAH):c.60C>A (p.Gly20=)
|
rs749196943
|
0.00002
|
|
NM_000137.4(FAH):c.666T>C (p.His222=)
|
rs768359308
|
0.00002
|
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
|
NM_000137.4(FAH):c.707-1G>A
|
rs149052294
|
0.00002
|
|
NM_000137.4(FAH):c.709C>T (p.Arg237Ter)
|
rs769550316
|
0.00002
|
|
NM_000137.4(FAH):c.891C>T (p.Ile297=)
|
rs1037374579
|
0.00002
|
|
NM_000137.4(FAH):c.961-18C>T
|
rs781743677
|
0.00002
|
|
NM_000137.4(FAH):c.9C>T (p.Phe3=)
|
rs1440066142
|
0.00002
|
|
NM_000156.6(GAMT):c.102G>T (p.Leu34=)
|
rs780224925
|
0.00002
|
|
NM_000156.6(GAMT):c.105C>T (p.Arg35=)
|
rs758387003
|
0.00002
|
|
NM_000156.6(GAMT):c.118C>T (p.Pro40Ser)
|
rs11551914
|
0.00002
|
|
NM_000156.6(GAMT):c.16G>A (p.Ala6Thr)
|
rs1176129507
|
0.00002
|
|
NM_000156.6(GAMT):c.181+16C>A
|
rs776931007
|
0.00002
|
|
NM_000156.6(GAMT):c.187C>T (p.Arg63Trp)
|
rs777102623
|
0.00002
|
|
NM_000156.6(GAMT):c.189G>C (p.Arg63=)
|
rs568392459
|
0.00002
|
|
NM_000156.6(GAMT):c.217A>G (p.Ile73Val)
|
rs771107085
|
0.00002
|
|
NM_000156.6(GAMT):c.219C>T (p.Ile73=)
|
rs1417220310
|
0.00002
|
|
NM_000156.6(GAMT):c.220G>A (p.Ala74Thr)
|
rs749284008
|
0.00002
|
|
NM_000156.6(GAMT):c.225G>A (p.Ala75=)
|
rs202151546
|
0.00002
|
|
NM_000156.6(GAMT):c.328G>T (p.Val110Phe)
|
rs753198836
|
0.00002
|
|
NM_000156.6(GAMT):c.344G>A (p.Gly115Asp)
|
rs750625814
|
0.00002
|
|
NM_000156.6(GAMT):c.379G>A (p.Gly127Ser)
|
rs570476209
|
0.00002
|
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
|
NM_000156.6(GAMT):c.415C>T (p.Leu139Phe)
|
rs1300612017
|
0.00002
|
|
NM_000156.6(GAMT):c.41A>G (p.Glu14Gly)
|
rs1223870636
|
0.00002
|
|
NM_000156.6(GAMT):c.472C>T (p.Arg158Cys)
|
rs758217156
|
0.00002
|
|
NM_000156.6(GAMT):c.486G>A (p.Pro162=)
|
rs368650653
|
0.00002
|
|
NM_000156.6(GAMT):c.493G>A (p.Val165Ile)
|
rs1050914
|
0.00002
|
|
NM_000156.6(GAMT):c.506G>A (p.Cys169Tyr)
|
rs121909272
|
0.00002
|
|
NM_000156.6(GAMT):c.54C>T (p.Pro18=)
|
rs960874258
|
0.00002
|
|
NM_000156.6(GAMT):c.571-7C>T
|
rs767793408
|
0.00002
|
|
NM_000156.6(GAMT):c.576G>A (p.Thr192=)
|
rs771099195
|
0.00002
|
|
NM_000156.6(GAMT):c.642G>A (p.Leu214=)
|
rs746723263
|
0.00002
|
|
NM_000156.6(GAMT):c.661C>T (p.Arg221Cys)
|
rs751894166
|
0.00002
|
|
NM_000159.4(GCDH):c.1059C>T (p.Leu353=)
|
rs758606844
|
0.00002
|
|
NM_000159.4(GCDH):c.1083-10C>T
|
rs756372984
|
0.00002
|
|
NM_000159.4(GCDH):c.1122C>T (p.Asn374=)
|
rs771733977
|
0.00002
|
|
NM_000159.4(GCDH):c.1149C>T (p.Arg383=)
|
rs1458766426
|
0.00002
|
|
NM_000159.4(GCDH):c.1209C>T (p.His403=)
|
rs747746632
|
0.00002
|
|
NM_000159.4(GCDH):c.1227C>T (p.Ala409=)
|
rs368251933
|
0.00002
|
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
|
NM_000159.4(GCDH):c.218C>T (p.Thr73Ile)
|
rs766884691
|
0.00002
|
|
NM_000159.4(GCDH):c.357G>A (p.Ser119=)
|
rs150674535
|
0.00002
|
|
NM_000159.4(GCDH):c.394C>T (p.Arg132Trp)
|
rs372429120
|
0.00002
|
|
NM_000159.4(GCDH):c.420G>T (p.Ala140=)
|
rs1408565185
|
0.00002
|
|
NM_000159.4(GCDH):c.441C>T (p.Leu147=)
|
rs931207617
|
0.00002
|
|
NM_000159.4(GCDH):c.536T>G (p.Leu179Arg)
|
rs774526353
|
0.00002
|
|
NM_000159.4(GCDH):c.54C>T (p.His18=)
|
rs747459082
|
0.00002
|
|
NM_000159.4(GCDH):c.553G>A (p.Gly185Arg)
|
rs576948027
|
0.00002
|
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
|
NM_000159.4(GCDH):c.658G>A (p.Asp220Asn)
|
rs375357230
|
0.00002
|
|
NM_000159.4(GCDH):c.727C>T (p.Arg243Trp)
|
rs549254182
|
0.00002
|
|
NM_000159.4(GCDH):c.774C>G (p.Ala258=)
|
rs1305712372
|
0.00002
|
|
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr)
|
rs761765983
|
0.00002
|
|
NM_000159.4(GCDH):c.92-14T>C
|
rs185661323
|
0.00002
|
|
NM_000159.4(GCDH):c.92-7C>T
|
rs538220975
|
0.00002
|
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
|
NM_000159.4(GCDH):c.938G>A (p.Arg313Gln)
|
rs746220312
|
0.00002
|
|
NM_000161.3(GCH1):c.193G>C (p.Glu65Gln)
|
rs1281386674
|
0.00002
|
|
NM_000161.3(GCH1):c.195G>A (p.Glu65=)
|
rs139350456
|
0.00002
|
|
NM_000161.3(GCH1):c.299C>T (p.Ser100Leu)
|
rs527416949
|
0.00002
|
|
NM_000161.3(GCH1):c.343+7G>A
|
rs754924703
|
0.00002
|
|
NM_000161.3(GCH1):c.435G>A (p.Leu145=)
|
rs763677193
|
0.00002
|
|
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)
|
rs104894434
|
0.00002
|
|
NM_000161.3(GCH1):c.737C>T (p.Thr246Ile)
|
rs989328098
|
0.00002
|
|
NM_000161.3(GCH1):c.83C>T (p.Pro28Leu)
|
rs774568081
|
0.00002
|
|
NM_000161.3(GCH1):c.89C>G (p.Pro30Arg)
|
rs1477733062
|
0.00002
|
|
NM_000170.3(GLDC):c.1014A>G (p.Glu338=)
|
rs764153656
|
0.00002
|
|
NM_000170.3(GLDC):c.103C>A (p.Arg35=)
|
rs764400486
|
0.00002
|
|
NM_000170.3(GLDC):c.1059-13A>C
|
rs774411764
|
0.00002
|
|
NM_000170.3(GLDC):c.1155+12G>A
|
rs200706904
|
0.00002
|
|
NM_000170.3(GLDC):c.1161C>T (p.Leu387=)
|
rs781613958
|
0.00002
|
|
NM_000170.3(GLDC):c.1242C>T (p.Ala414=)
|
rs761471932
|
0.00002
|
|
NM_000170.3(GLDC):c.1329C>T (p.Gly443=)
|
rs1331638239
|
0.00002
|
|
NM_000170.3(GLDC):c.1342G>C (p.Glu448Gln)
|
rs777365335
|
0.00002
|
|
NM_000170.3(GLDC):c.142G>T (p.Gly48Trp)
|
rs1057515608
|
0.00002
|
|
NM_000170.3(GLDC):c.1430A>G (p.Asn477Ser)
|
rs372136194
|
0.00002
|
|
NM_000170.3(GLDC):c.1433A>C (p.Glu478Ala)
|
rs751588571
|
0.00002
|
|
NM_000170.3(GLDC):c.147C>T (p.Ala49=)
|
rs994081399
|
0.00002
|
|
NM_000170.3(GLDC):c.1501A>G (p.Met501Val)
|
rs748216955
|
0.00002
|
|
NM_000170.3(GLDC):c.1510G>C (p.Glu504Gln)
|
rs1038321056
|
0.00002
|
|
NM_000170.3(GLDC):c.1536G>A (p.Val512=)
|
rs370403481
|
0.00002
|
|
NM_000170.3(GLDC):c.1580+5G>C
|
rs764790596
|
0.00002
|
|
NM_000170.3(GLDC):c.15C>T (p.Ala5=)
|
rs1217742509
|
0.00002
|
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
|
NM_000170.3(GLDC):c.1662A>C (p.Pro554=)
|
rs547588947
|
0.00002
|
|
NM_000170.3(GLDC):c.1702C>G (p.Leu568Val)
|
rs760181670
|
0.00002
|
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
|
NM_000170.3(GLDC):c.1743C>G (p.Pro581=)
|
rs771788026
|
0.00002
|
|
NM_000170.3(GLDC):c.1785C>G (p.Phe595Leu)
|
rs201997592
|
0.00002
|
|
NM_000170.3(GLDC):c.1787G>A (p.Arg596Gln)
|
rs573132323
|
0.00002
|
|
NM_000170.3(GLDC):c.1870G>A (p.Ala624Thr)
|
rs143653301
|
0.00002
|
|
NM_000170.3(GLDC):c.1977C>T (p.His659=)
|
rs1402896169
|
0.00002
|
|
NM_000170.3(GLDC):c.2048C>G (p.Ala683Gly)
|
rs1324189699
|
0.00002
|
|
NM_000170.3(GLDC):c.2053-11T>G
|
rs752086205
|
0.00002
|
|
NM_000170.3(GLDC):c.2203-10T>G
|
rs761374321
|
0.00002
|
|
NM_000170.3(GLDC):c.2243C>T (p.Ser748Leu)
|
rs769035358
|
0.00002
|
|
NM_000170.3(GLDC):c.2253T>C (p.Asn751=)
|
rs765624698
|
0.00002
|
|
NM_000170.3(GLDC):c.2289T>C (p.Gly763=)
|
rs749032015
|
0.00002
|
|
NM_000170.3(GLDC):c.243C>G (p.Thr81=)
|
rs1042575278
|
0.00002
|
|
NM_000170.3(GLDC):c.2458-11C>T
|
rs778469197
|
0.00002
|
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
|
NM_000170.3(GLDC):c.2703G>C (p.Gly901=)
|
rs369767254
|
0.00002
|
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
|
NM_000170.3(GLDC):c.2818C>T (p.Pro940Ser)
|
rs559923220
|
0.00002
|
|
NM_000170.3(GLDC):c.2839-16C>T
|
rs776393477
|
0.00002
|
|
NM_000170.3(GLDC):c.290C>T (p.Ala97Val)
|
rs917975796
|
0.00002
|
|
NM_000170.3(GLDC):c.2966T>C (p.Ile989Thr)
|
rs149336868
|
0.00002
|
|
NM_000170.3(GLDC):c.299G>A (p.Arg100His)
|
rs1470245998
|
0.00002
|
|
NM_000170.3(GLDC):c.3003C>T (p.Thr1001=)
|
rs975199715
|
0.00002
|
|
NM_000170.3(GLDC):c.3054G>A (p.Ala1018=)
|
rs749409925
|
0.00002
|
|
NM_000170.3(GLDC):c.375C>T (p.Ser125=)
|
rs750281192
|
0.00002
|
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
|
NM_000170.3(GLDC):c.471-10T>A
|
rs369391624
|
0.00002
|
|
NM_000170.3(GLDC):c.549G>A (p.Val183=)
|
rs371771891
|
0.00002
|
|
NM_000170.3(GLDC):c.635+14C>A
|
rs1409018724
|
0.00002
|
|
NM_000170.3(GLDC):c.670C>T (p.Arg224Cys)
|
rs755436133
|
0.00002
|
|
NM_000170.3(GLDC):c.716A>G (p.Tyr239Cys)
|
rs781364515
|
0.00002
|
|
NM_000170.3(GLDC):c.746C>T (p.Pro249Leu)
|
rs754710330
|
0.00002
|
|
NM_000170.3(GLDC):c.755T>C (p.Met252Thr)
|
rs766114667
|
0.00002
|
|
NM_000170.3(GLDC):c.777C>G (p.Val259=)
|
rs141980284
|
0.00002
|
|
NM_000170.3(GLDC):c.807G>A (p.Thr269=)
|
rs374776450
|
0.00002
|
|
NM_000170.3(GLDC):c.829A>T (p.Thr277Ser)
|
rs372595899
|
0.00002
|
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
|
NM_000170.3(GLDC):c.900C>T (p.Cys300=)
|
rs143256976
|
0.00002
|
|
NM_000170.3(GLDC):c.935T>C (p.Ile312Thr)
|
rs761921284
|
0.00002
|
|
NM_000182.5(HADHA):c.1089T>C (p.His363=)
|
rs755296795
|
0.00002
|
|
NM_000182.5(HADHA):c.1353C>T (p.Asp451=)
|
rs770306077
|
0.00002
|
|
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp)
|
rs772166712
|
0.00002
|
|
NM_000182.5(HADHA):c.1507G>A (p.Val503Met)
|
rs138386385
|
0.00002
|
|
NM_000182.5(HADHA):c.1596G>C (p.Gln532His)
|
rs1004898768
|
0.00002
|
|
NM_000182.5(HADHA):c.1656G>A (p.Ala552=)
|
rs541069396
|
0.00002
|
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
|
NM_000182.5(HADHA):c.1701C>T (p.Asp567=)
|
rs778014305
|
0.00002
|
|
NM_000182.5(HADHA):c.1794T>C (p.His598=)
|
rs149021400
|
0.00002
|
|
NM_000182.5(HADHA):c.183A>G (p.Val61=)
|
rs370149021
|
0.00002
|
|
NM_000182.5(HADHA):c.1889G>A (p.Arg630His)
|
rs150850348
|
0.00002
|
|
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val)
|
rs766188621
|
0.00002
|
|
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln)
|
rs781303622
|
0.00002
|
|
NM_000182.5(HADHA):c.2133G>A (p.Pro711=)
|
rs186499456
|
0.00002
|
|
NM_000182.5(HADHA):c.2146+10G>A
|
rs768516891
|
0.00002
|
|
NM_000182.5(HADHA):c.2147-10C>T
|
rs371667948
|
0.00002
|
|
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg)
|
rs769625802
|
0.00002
|
|
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr)
|
rs146667859
|
0.00002
|
|
NM_000182.5(HADHA):c.676+2T>C
|
rs772683361
|
0.00002
|
|
NM_000182.5(HADHA):c.677-3T>C
|
rs376306806
|
0.00002
|
|
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu)
|
rs143919136
|
0.00002
|
|
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser)
|
rs752317877
|
0.00002
|
|
NM_000182.5(HADHA):c.9C>T (p.Ala3=)
|
rs1323737552
|
0.00002
|
|
NM_000187.4(HGD):c.1305T>C (p.Thr435=)
|
rs571129573
|
0.00002
|
|
NM_000187.4(HGD):c.342+1G>T
|
rs397515518
|
0.00002
|
|
NM_000187.4(HGD):c.367G>A (p.Gly123Arg)
|
rs564979861
|
0.00002
|
|
NM_000187.4(HGD):c.469+2T>C
|
rs745333667
|
0.00002
|
|
NM_000187.4(HGD):c.58C>T (p.Arg20Cys)
|
rs755454185
|
0.00002
|
|
NM_000187.4(HGD):c.732G>A (p.Thr244=)
|
rs769516009
|
0.00002
|
|
NM_000191.3(HMGCL):c.165G>A (p.Val55=)
|
rs1173716795
|
0.00002
|
|
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
|
rs1291707271
|
0.00002
|
|
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
|
rs373738626
|
0.00002
|
|
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)
|
rs121964996
|
0.00002
|
|
NM_000191.3(HMGCL):c.27del (p.Arg10fs)
|
rs1409716731
|
0.00002
|
|
NM_000191.3(HMGCL):c.324A>G (p.Pro108=)
|
rs932601140
|
0.00002
|
|
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)
|
rs905961108
|
0.00002
|
|
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)
|
rs377359510
|
0.00002
|
|
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)
|
rs764039230
|
0.00002
|
|
NM_000191.3(HMGCL):c.549T>A (p.Ala183=)
|
rs61743700
|
0.00002
|
|
NM_000191.3(HMGCL):c.564C>G (p.Val188=)
|
rs779911061
|
0.00002
|
|
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)
|
rs764360500
|
0.00002
|
|
NM_000191.3(HMGCL):c.636G>A (p.Gly212=)
|
rs1471029861
|
0.00002
|
|
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)
|
rs764926275
|
0.00002
|
|
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)
|
rs761468576
|
0.00002
|
|
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=)
|
rs765198174
|
0.00002
|
|
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)
|
rs771024022
|
0.00002
|
|
NM_000191.3(HMGCL):c.843G>A (p.Leu281=)
|
rs773635833
|
0.00002
|
|
NM_000191.3(HMGCL):c.877-16A>G
|
rs763250288
|
0.00002
|
|
NM_000191.3(HMGCL):c.877-7C>T
|
rs750545040
|
0.00002
|
|
NM_000240.4(MAOA):c.1052+14G>A
|
rs113551306
|
0.00002
|
|
NM_000240.4(MAOA):c.1262+7C>T
|
rs773216160
|
0.00002
|
|
NM_000240.4(MAOA):c.255C>G (p.Gly85=)
|
rs1601935224
|
0.00002
|
|
NM_000240.4(MAOA):c.30G>A (p.Ala10=)
|
rs1347324620
|
0.00002
|
|
NM_000240.4(MAOA):c.402G>A (p.Met134Ile)
|
rs771740634
|
0.00002
|
|
NM_000240.4(MAOA):c.482T>C (p.Ile161Thr)
|
rs574432879
|
0.00002
|
|
NM_000240.4(MAOA):c.681C>T (p.Ser227=)
|
rs758225239
|
0.00002
|
|
NM_000240.4(MAOA):c.703G>A (p.Gly235Arg)
|
rs368201051
|
0.00002
|
|
NM_000240.4(MAOA):c.739G>A (p.Val247Ile)
|
rs777420059
|
0.00002
|
|
NM_000240.4(MAOA):c.890G>A (p.Arg297Gln)
|
rs780647851
|
0.00002
|
|
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser)
|
rs1286773616
|
0.00002
|
|
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys)
|
rs138876566
|
0.00002
|
|
NM_000254.3(MTR):c.1395G>A (p.Gly465=)
|
rs372015549
|
0.00002
|
|
NM_000254.3(MTR):c.1434G>A (p.Glu478=)
|
rs747176647
|
0.00002
|
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
|
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu)
|
rs1479249107
|
0.00002
|
|
NM_000254.3(MTR):c.179C>G (p.Ala60Gly)
|
rs775827591
|
0.00002
|
|
NM_000254.3(MTR):c.1953+7A>G
|
rs777871271
|
0.00002
|
|
NM_000254.3(MTR):c.2109A>G (p.Arg703=)
|
rs565935347
|
0.00002
|
|
NM_000254.3(MTR):c.259C>T (p.Leu87=)
|
rs751808381
|
0.00002
|
|
NM_000254.3(MTR):c.2772C>G (p.Leu924=)
|
rs533541925
|
0.00002
|
|
NM_000254.3(MTR):c.2775+17G>T
|
rs763995449
|
0.00002
|
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
0.00002
|
|
NM_000254.3(MTR):c.2910G>A (p.Val970=)
|
rs769690083
|
0.00002
|
|
NM_000254.3(MTR):c.339+19C>T
|
rs199843808
|
0.00002
|
|
NM_000254.3(MTR):c.3598+15G>A
|
rs754129736
|
0.00002
|
|
NM_000254.3(MTR):c.388G>A (p.Glu130Lys)
|
rs755894287
|
0.00002
|
|
NM_000254.3(MTR):c.486G>A (p.Pro162=)
|
rs747494979
|
0.00002
|
|
NM_000254.3(MTR):c.711C>T (p.Ser237=)
|
rs775774568
|
0.00002
|
|
NM_000254.3(MTR):c.821T>C (p.Ile274Thr)
|
rs368380397
|
0.00002
|
|
NM_000274.4(OAT):c.1014+17C>T
|
rs759429643
|
0.00002
|
|
NM_000274.4(OAT):c.1068G>T (p.Leu356Phe)
|
rs768685095
|
0.00002
|
|
NM_000274.4(OAT):c.1245G>A (p.Ala415=)
|
rs751449034
|
0.00002
|
|
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser)
|
rs763915205
|
0.00002
|
|
NM_000274.4(OAT):c.1255G>C (p.Val419Leu)
|
rs760922693
|
0.00002
|
|
NM_000274.4(OAT):c.184C>T (p.Leu62=)
|
rs776832915
|
0.00002
|
|
NM_000274.4(OAT):c.202A>G (p.Ile68Val)
|
rs766674632
|
0.00002
|
|
NM_000274.4(OAT):c.46C>T (p.Arg16Cys)
|
rs778757920
|
0.00002
|
|
NM_000274.4(OAT):c.477C>T (p.Thr159=)
|
rs575839041
|
0.00002
|
|
NM_000274.4(OAT):c.643C>T (p.Leu215=)
|
rs111616939
|
0.00002
|
|
NM_000274.4(OAT):c.771+8C>T
|
rs113532454
|
0.00002
|
|
NM_000274.4(OAT):c.771+9G>C
|
rs756798690
|
0.00002
|
|
NM_000274.4(OAT):c.785C>A (p.Ala262Asp)
|
rs772762366
|
0.00002
|
|
NM_000274.4(OAT):c.816T>C (p.Thr272=)
|
rs778561122
|
0.00002
|
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
|
NM_000274.4(OAT):c.899C>G (p.Pro300Arg)
|
rs759979499
|
0.00002
|
|
NM_000274.4(OAT):c.900+15C>T
|
rs369658048
|
0.00002
|
|
NM_000274.4(OAT):c.996G>A (p.Val332=)
|
rs768045594
|
0.00002
|
|
NM_000276.4(OCRL):c.1320T>G (p.Asn440Lys)
|
rs761140161
|
0.00002
|
|
NM_000276.4(OCRL):c.1336A>G (p.Arg446Gly)
|
rs771429717
|
0.00002
|
|
NM_000276.4(OCRL):c.1431T>C (p.Tyr477=)
|
rs371330116
|
0.00002
|
|
NM_000276.4(OCRL):c.2066G>A (p.Arg689His)
|
rs748186190
|
0.00002
|
|
NM_000276.4(OCRL):c.2244C>T (p.Tyr748=)
|
rs781297236
|
0.00002
|
|
NM_000276.4(OCRL):c.2282T>G (p.Met761Arg)
|
rs1336177262
|
0.00002
|
|
NM_000276.4(OCRL):c.561-13A>G
|
rs773509037
|
0.00002
|
|
NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)
|
rs1388273402
|
0.00002
|
|
NM_000276.4(OCRL):c.963G>A (p.Gly321=)
|
rs763484849
|
0.00002
|
|
NM_000277.3(PAH):c.1065+39G>T
|
rs62510582
|
0.00002
|
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
|
NM_000277.3(PAH):c.1066-4A>G
|
rs757320744
|
0.00002
|
|
NM_000277.3(PAH):c.1098C>A (p.Pro366=)
|
rs776159017
|
0.00002
|
|
NM_000277.3(PAH):c.1218A>G (p.Ile406Met)
|
rs773526027
|
0.00002
|
|
NM_000277.3(PAH):c.12G>A (p.Ala4=)
|
rs536605300
|
0.00002
|
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
|
NM_000277.3(PAH):c.441+15C>T
|
rs187133779
|
0.00002
|
|
NM_000277.3(PAH):c.441+9A>G
|
rs756060157
|
0.00002
|
|
NM_000277.3(PAH):c.442-14C>T
|
rs775806999
|
0.00002
|
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
|
NM_000277.3(PAH):c.558_559del (p.Trp187fs)
|
rs62517207
|
0.00002
|
|
NM_000277.3(PAH):c.581T>C (p.Leu194Pro)
|
rs5030844
|
0.00002
|
|
NM_000277.3(PAH):c.642A>G (p.Glu214=)
|
rs373782868
|
0.00002
|
|
NM_000277.3(PAH):c.74T>C (p.Ile25Thr)
|
rs1355039694
|
0.00002
|
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
|
NM_000277.3(PAH):c.861G>A (p.Leu287=)
|
rs754686336
|
0.00002
|
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
|
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
|
rs548833871
|
0.00002
|
|
NM_000282.4(PCCA):c.1285-4C>T
|
rs372262089
|
0.00002
|
|
NM_000282.4(PCCA):c.1430G>A (p.Gly477Asp)
|
rs776355907
|
0.00002
|
|
NM_000282.4(PCCA):c.146G>A (p.Arg49His)
|
rs570674073
|
0.00002
|
|
NM_000282.4(PCCA):c.1540+11A>G
|
rs374671328
|
0.00002
|
|
NM_000282.4(PCCA):c.1693T>C (p.Leu565=)
|
rs767365284
|
0.00002
|
|
NM_000282.4(PCCA):c.1747-8dup
|
rs753595587
|
0.00002
|
|
NM_000282.4(PCCA):c.183+18A>G
|
rs746021444
|
0.00002
|
|
NM_000282.4(PCCA):c.1988G>A (p.Arg663His)
|
rs780042764
|
0.00002
|
|
NM_000282.4(PCCA):c.2112T>C (p.Thr704=)
|
rs765451633
|
0.00002
|
|
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile)
|
rs548026367
|
0.00002
|
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
|
NM_000282.4(PCCA):c.318G>A (p.Ala106=)
|
rs752769607
|
0.00002
|
|
NM_000282.4(PCCA):c.469-6C>T
|
rs1411689584
|
0.00002
|
|
NM_000282.4(PCCA):c.50G>A (p.Arg17His)
|
rs768914819
|
0.00002
|
|
NM_000282.4(PCCA):c.526G>A (p.Asp176Asn)
|
rs1047690554
|
0.00002
|
|
NM_000282.4(PCCA):c.590G>C (p.Gly197Ala)
|
rs766245108
|
0.00002
|
|
NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)
|
rs369743452
|
0.00002
|
|
NM_000282.4(PCCA):c.638-5G>A
|
rs764316702
|
0.00002
|
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
0.00002
|
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
|
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
|
rs773749632
|
0.00002
|
|
NM_000282.4(PCCA):c.955C>G (p.Gln319Glu)
|
rs750840362
|
0.00002
|
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
|
NM_000317.3(PTS):c.192C>T (p.Asp64=)
|
rs201156784
|
0.00002
|
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
|
NM_000320.3(QDPR):c.152G>A (p.Ser51Asn)
|
rs187958701
|
0.00002
|
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
|
NM_000320.3(QDPR):c.534C>T (p.Ile178=)
|
rs767857309
|
0.00002
|
|
NM_000320.3(QDPR):c.624A>G (p.Leu208=)
|
rs757533596
|
0.00002
|
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
|
NM_000329.3(RPE65):c.1243+10T>C
|
rs548537552
|
0.00002
|
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
|
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)
|
rs1420672586
|
0.00002
|
|
NM_000329.3(RPE65):c.1339-4A>G
|
rs746665921
|
0.00002
|
|
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)
|
rs62637004
|
0.00002
|
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
|
NM_000329.3(RPE65):c.1473G>C (p.Val491=)
|
rs748413171
|
0.00002
|
|
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)
|
rs559975684
|
0.00002
|
|
NM_000329.3(RPE65):c.1575C>T (p.Thr525=)
|
rs145318478
|
0.00002
|
|
NM_000329.3(RPE65):c.165G>A (p.Glu55=)
|
rs375272714
|
0.00002
|
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
|
NM_000329.3(RPE65):c.353+7G>A
|
rs773557127
|
0.00002
|
|
NM_000329.3(RPE65):c.402T>C (p.Val134=)
|
rs1467212381
|
0.00002
|
|
NM_000329.3(RPE65):c.496-5C>T
|
rs769548166
|
0.00002
|
|
NM_000329.3(RPE65):c.564C>T (p.Thr188=)
|
rs764476046
|
0.00002
|
|
NM_000329.3(RPE65):c.621A>G (p.Val207=)
|
rs746032112
|
0.00002
|
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
|
NM_000329.3(RPE65):c.747T>C (p.Tyr249=)
|
rs764888162
|
0.00002
|
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
|
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
|
rs774896870
|
0.00002
|
|
NM_000329.3(RPE65):c.825C>T (p.Tyr275=)
|
rs988133284
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys)
|
rs764849767
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His)
|
rs373852467
|
0.00002
|
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
|
NM_000353.3(TAT):c.1008A>G (p.Gly336=)
|
rs377685329
|
0.00002
|
|
NM_000353.3(TAT):c.224C>T (p.Ser75Phe)
|
rs773076331
|
0.00002
|
|
NM_000353.3(TAT):c.324C>T (p.Gly108=)
|
rs1400528245
|
0.00002
|
|
NM_000353.3(TAT):c.401A>G (p.Glu134Gly)
|
rs1194073307
|
0.00002
|
|
NM_000353.3(TAT):c.411C>T (p.Asp137=)
|
rs757380584
|
0.00002
|
|
NM_000353.3(TAT):c.528T>C (p.Ala176=)
|
rs774778427
|
0.00002
|
|
NM_000353.3(TAT):c.660C>T (p.Pro220=)
|
rs1404599153
|
0.00002
|
|
NM_000353.3(TAT):c.683G>C (p.Arg228Pro)
|
rs554840029
|
0.00002
|
|
NM_000353.3(TAT):c.759+8T>A
|
rs761791218
|
0.00002
|
|
NM_000353.3(TAT):c.84C>T (p.Ser28=)
|
rs184872582
|
0.00002
|
|
NM_000360.4(TH):c.1047+10G>A
|
rs747505017
|
0.00002
|
|
NM_000360.4(TH):c.1047+1G>C
|
rs1340482195
|
0.00002
|
|
NM_000360.4(TH):c.1047+8G>A
|
rs1399106612
|
0.00002
|
|
NM_000360.4(TH):c.1050C>T (p.Asp350=)
|
rs1421783815
|
0.00002
|
|
NM_000360.4(TH):c.1084G>A (p.Glu362Lys)
|
rs776917257
|
0.00002
|
|
NM_000360.4(TH):c.1105-7C>T
|
rs374133473
|
0.00002
|
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
|
NM_000360.4(TH):c.1229G>A (p.Arg410Gln)
|
rs367874223
|
0.00002
|
|
NM_000360.4(TH):c.1320C>T (p.Ala440=)
|
rs1301464480
|
0.00002
|
|
NM_000360.4(TH):c.1335-9C>G
|
rs910277713
|
0.00002
|
|
NM_000360.4(TH):c.1348C>T (p.Arg450Cys)
|
rs375084700
|
0.00002
|
|
NM_000360.4(TH):c.1377C>T (p.Phe459=)
|
rs575305786
|
0.00002
|
|
NM_000360.4(TH):c.1388C>T (p.Thr463Met)
|
rs45471299
|
0.00002
|
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
|
NM_000360.4(TH):c.216C>T (p.Ala72=)
|
rs773288225
|
0.00002
|
|
NM_000360.4(TH):c.220G>C (p.Glu74Gln)
|
rs748493792
|
0.00002
|
|
NM_000360.4(TH):c.288G>C (p.Leu96=)
|
rs151082354
|
0.00002
|
|
NM_000360.4(TH):c.292C>T (p.Arg98Ter)
|
rs1057519220
|
0.00002
|
|
NM_000360.4(TH):c.313-15C>T
|
rs1298110996
|
0.00002
|
|
NM_000360.4(TH):c.351C>T (p.Pro117=)
|
rs764429855
|
0.00002
|
|
NM_000360.4(TH):c.360G>A (p.Arg120=)
|
rs761868828
|
0.00002
|
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
|
NM_000360.4(TH):c.386A>C (p.Glu129Ala)
|
rs745829277
|
0.00002
|
|
NM_000360.4(TH):c.414A>C (p.Arg138=)
|
rs528105731
|
0.00002
|
|
NM_000360.4(TH):c.426C>T (p.Ala142=)
|
rs200598308
|
0.00002
|
|
NM_000360.4(TH):c.534C>T (p.His178=)
|
rs965288727
|
0.00002
|
|
NM_000360.4(TH):c.576+11C>T
|
rs770003580
|
0.00002
|
|
NM_000360.4(TH):c.576+12G>A
|
rs550221603
|
0.00002
|
|
NM_000360.4(TH):c.600C>T (p.Arg200=)
|
rs748661920
|
0.00002
|
|
NM_000360.4(TH):c.644+1G>A
|
rs1266265578
|
0.00002
|
|
NM_000360.4(TH):c.729C>T (p.Tyr243=)
|
rs878855308
|
0.00002
|
|
NM_000360.4(TH):c.793C>G (p.Arg265Gly)
|
rs1203763637
|
0.00002
|
|
NM_000360.4(TH):c.900G>A (p.Leu300=)
|
rs971671588
|
0.00002
|
|
NM_000360.4(TH):c.977+10C>T
|
rs370829131
|
0.00002
|
|
NM_000360.4(TH):c.978-10C>T
|
rs752258129
|
0.00002
|
|
NM_000360.4(TH):c.978-7C>T
|
rs778560407
|
0.00002
|
|
NM_000360.4(TH):c.98G>A (p.Arg33Gln)
|
rs996766545
|
0.00002
|
|
NM_000387.6(SLC25A20):c.195A>G (p.Arg65=)
|
rs776205534
|
0.00002
|
|
NM_000387.6(SLC25A20):c.262G>A (p.Val88Met)
|
rs145573028
|
0.00002
|
|
NM_000387.6(SLC25A20):c.596C>T (p.Pro199Leu)
|
rs775269347
|
0.00002
|
|
NM_000387.6(SLC25A20):c.608+12A>G
|
rs773824427
|
0.00002
|
|
NM_000387.6(SLC25A20):c.719-10T>C
|
rs769684089
|
0.00002
|
|
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=)
|
rs766966542
|
0.00002
|
|
NM_000481.4(AMT):c.100C>T (p.Arg34Cys)
|
rs143389339
|
0.00002
|
|
NM_000481.4(AMT):c.1021G>A (p.Gly341Ser)
|
rs769609020
|
0.00002
|
|
NM_000481.4(AMT):c.1141C>T (p.Arg381Trp)
|
rs775324601
|
0.00002
|
|
NM_000481.4(AMT):c.248A>G (p.His83Arg)
|
rs1467607949
|
0.00002
|
|
NM_000481.4(AMT):c.431C>T (p.Ser144Phe)
|
rs147482804
|
0.00002
|
|
NM_000481.4(AMT):c.434A>G (p.Asn145Ser)
|
rs386833682
|
0.00002
|
|
NM_000481.4(AMT):c.43C>T (p.Leu15=)
|
rs775112005
|
0.00002
|
|
NM_000481.4(AMT):c.503G>C (p.Arg168Thr)
|
rs200058579
|
0.00002
|
|
NM_000481.4(AMT):c.522G>T (p.Val174=)
|
rs768025952
|
0.00002
|
|
NM_000481.4(AMT):c.529A>G (p.Asn177Asp)
|
rs771657567
|
0.00002
|
|
NM_000481.4(AMT):c.584T>C (p.Val195Ala)
|
rs752740839
|
0.00002
|
|
NM_000481.4(AMT):c.657C>T (p.Arg219=)
|
rs976237396
|
0.00002
|
|
NM_000481.4(AMT):c.658G>A (p.Val220Met)
|
rs199638653
|
0.00002
|
|
NM_000481.4(AMT):c.78T>C (p.Leu26=)
|
rs764624214
|
0.00002
|
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
|
NM_000531.6(OTC):c.216+9C>T
|
rs774764719
|
0.00002
|
|
NM_000531.6(OTC):c.375G>A (p.Thr125=)
|
rs371075231
|
0.00002
|
|
NM_000531.6(OTC):c.380C>T (p.Thr127Met)
|
rs762910963
|
0.00002
|
|
NM_000531.6(OTC):c.403G>A (p.Ala135Thr)
|
rs770910923
|
0.00002
|
|
NM_000531.6(OTC):c.717+11T>C
|
rs772850466
|
0.00002
|
|
NM_000531.6(OTC):c.761C>T (p.Ala254Val)
|
rs781179862
|
0.00002
|
|
NM_000531.6(OTC):c.762G>T (p.Ala254=)
|
rs1388386866
|
0.00002
|
|
NM_000531.6(OTC):c.764A>G (p.His255Arg)
|
rs72558440
|
0.00002
|
|
NM_000531.6(OTC):c.76C>T (p.Arg26Trp)
|
rs1057515879
|
0.00002
|
|
NM_000531.6(OTC):c.808C>G (p.Gln270Glu)
|
rs72558451
|
0.00002
|
|
NM_000531.6(OTC):c.868-16A>G
|
rs767308398
|
0.00002
|
|
NM_000531.6(OTC):c.89C>A (p.Pro30Gln)
|
rs753712951
|
0.00002
|
|
NM_000531.6(OTC):c.906C>T (p.His302=)
|
rs67870244
|
0.00002
|
|
NM_000532.5(PCCB):c.1090+18T>C
|
rs775309894
|
0.00002
|
|
NM_000532.5(PCCB):c.1091-4C>G
|
rs759283485
|
0.00002
|
|
NM_000532.5(PCCB):c.1132G>A (p.Val378Ile)
|
rs761529521
|
0.00002
|
|
NM_000532.5(PCCB):c.12A>G (p.Ala4=)
|
rs1476876445
|
0.00002
|
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
|
NM_000532.5(PCCB):c.1317T>C (p.Tyr439=)
|
rs199541514
|
0.00002
|
|
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln)
|
rs375014273
|
0.00002
|
|
NM_000532.5(PCCB):c.1338C>T (p.His446=)
|
rs958149789
|
0.00002
|
|
NM_000532.5(PCCB):c.1372G>A (p.Ala458Thr)
|
rs542389615
|
0.00002
|
|
NM_000532.5(PCCB):c.1499-14C>T
|
rs369168852
|
0.00002
|
|
NM_000532.5(PCCB):c.24G>T (p.Ala8=)
|
rs1057523611
|
0.00002
|
|
NM_000532.5(PCCB):c.30C>T (p.Val10=)
|
rs754303318
|
0.00002
|
|
NM_000532.5(PCCB):c.318C>T (p.Ser106=)
|
rs767388070
|
0.00002
|
|
NM_000532.5(PCCB):c.449C>T (p.Thr150Met)
|
rs372770908
|
0.00002
|
|
NM_000532.5(PCCB):c.45C>T (p.Ser15=)
|
rs754664563
|
0.00002
|
|
NM_000532.5(PCCB):c.480C>T (p.Asp160=)
|
rs1454839953
|
0.00002
|
|
NM_000532.5(PCCB):c.543G>C (p.Leu181=)
|
rs777868289
|
0.00002
|
|
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser)
|
rs371155999
|
0.00002
|
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
|
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys)
|
rs549397464
|
0.00002
|
|
NM_000532.5(PCCB):c.939C>T (p.Ala313=)
|
rs369008776
|
0.00002
|
|
NM_000532.5(PCCB):c.945C>T (p.Asn315=)
|
rs766185451
|
0.00002
|
|
NM_000532.5(PCCB):c.996C>T (p.Ile332=)
|
rs773854246
|
0.00002
|
|
NM_000554.6(CRX):c.166G>A (p.Ala56Thr)
|
rs61748437
|
0.00002
|
|
NM_000554.6(CRX):c.206G>A (p.Arg69His)
|
rs775073228
|
0.00002
|
|
NM_000554.6(CRX):c.21G>A (p.Pro7=)
|
rs772745666
|
0.00002
|
|
NM_000554.6(CRX):c.252+8G>C
|
rs773348946
|
0.00002
|
|
NM_000554.6(CRX):c.253-16C>T
|
rs372605680
|
0.00002
|
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
|
NM_000554.6(CRX):c.485T>C (p.Ile162Thr)
|
rs745628043
|
0.00002
|
|
NM_000554.6(CRX):c.487T>C (p.Trp163Arg)
|
rs779912365
|
0.00002
|
|
NM_000554.6(CRX):c.513G>C (p.Leu171Phe)
|
rs773154643
|
0.00002
|
|
NM_000554.6(CRX):c.521C>T (p.Ala174Val)
|
rs771028537
|
0.00002
|
|
NM_000554.6(CRX):c.594C>T (p.Ala198=)
|
rs1186532132
|
0.00002
|
|
NM_000554.6(CRX):c.747C>G (p.Ser249=)
|
rs748748807
|
0.00002
|
|
NM_000687.4(AHCY):c.1168-16C>T
|
rs776065604
|
0.00002
|
|
NM_000687.4(AHCY):c.985C>T (p.Arg329Trp)
|
rs530155117
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp)
|
rs942815730
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1100A>C (p.Tyr367Ser)
|
rs777794357
|
0.00002
|
|
NM_000709.4(BCKDHA):c.126G>A (p.Gln42=)
|
rs770845165
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1286G>A (p.Arg429His)
|
rs143065803
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1302C>T (p.Tyr434=)
|
rs398123491
|
0.00002
|
|
NM_000709.4(BCKDHA):c.1320G>A (p.Leu440=)
|
rs771396248
|
0.00002
|
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
|
NM_000709.4(BCKDHA):c.339C>T (p.Asn113=)
|
rs747299996
|
0.00002
|
|
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser)
|
rs34956071
|
0.00002
|
|
NM_000709.4(BCKDHA):c.528C>A (p.Ala176=)
|
rs755611354
|
0.00002
|
|
NM_000709.4(BCKDHA):c.565C>T (p.Arg189Cys)
|
rs886042356
|
0.00002
|
|
NM_000709.4(BCKDHA):c.585C>T (p.Tyr195=)
|
rs575806482
|
0.00002
|
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
|
NM_000709.4(BCKDHA):c.798C>T (p.Asn266=)
|
rs772457864
|
0.00002
|
|
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys)
|
rs145901144
|
0.00002
|
|
NM_000709.4(BCKDHA):c.915C>T (p.Ala305=)
|
rs748919780
|
0.00002
|
|
NM_000709.4(BCKDHA):c.927C>T (p.Ala309=)
|
rs763842430
|
0.00002
|
|
NM_000709.4(BCKDHA):c.947G>A (p.Arg316Gln)
|
rs972403437
|
0.00002
|
|
NM_000709.4(BCKDHA):c.996-10C>T
|
rs748005370
|
0.00002
|
|
NM_001002755.4(NFU1):c.528G>A (p.Leu176=)
|
rs368931176
|
0.00002
|
|
NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)
|
rs1272262379
|
0.00002
|
|
NM_001002755.4(NFU1):c.720+4T>A
|
rs1006415808
|
0.00002
|
|
NM_001010867.4(IBA57):c.138G>C (p.Ala46=)
|
rs1037373507
|
0.00002
|
|
NM_001010867.4(IBA57):c.342-7C>A
|
rs368007738
|
0.00002
|
|
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser)
|
rs539057206
|
0.00002
|
|
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu)
|
rs770987687
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1200+17G>A
|
rs199559219
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1381T>G (p.Phe461Val)
|
rs1156758875
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1442G>A (p.Arg481Gln)
|
rs201783916
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1511G>A (p.Arg504His)
|
rs150135550
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1662C>T (p.Tyr554=)
|
rs145370858
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.1845G>A (p.Ala615=)
|
rs201082592
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.273A>T (p.Ala91=)
|
rs1291297446
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.31-6226C>T
|
rs202056254
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.577G>A (p.Glu193Lys)
|
rs193921002
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.754G>A (p.Val252Met)
|
rs200759556
|
0.00002
|
|
NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln)
|
rs201870833
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1014+7C>A
|
rs1759660737
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1114A>G (p.Asn372Asp)
|
rs200308698
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1173+12G>A
|
rs1178556679
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1173+18T>C
|
rs775059292
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1188G>A (p.Val396=)
|
rs534575798
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1299G>C (p.Leu433=)
|
rs781629841
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)
|
rs771829991
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1336G>C (p.Val446Leu)
|
rs370942126
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1343+8C>T
|
rs775916984
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1347C>T (p.Phe449=)
|
rs192771358
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.1506C>T (p.Cys502=)
|
rs200605419
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.164C>T (p.Ser55Phe)
|
rs1472036270
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.256G>C (p.Ala86Pro)
|
rs1371742454
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.267G>C (p.Met89Ile)
|
rs964260186
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)
|
rs765561257
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.318C>T (p.Tyr106=)
|
rs985818920
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.323C>T (p.Ala108Val)
|
rs1440288677
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.325T>C (p.Phe109Leu)
|
rs1309356527
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter)
|
rs758087862
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.51G>A (p.Ser17=)
|
rs756763728
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)
|
rs72552281
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.560G>A (p.Arg187Gln)
|
rs755160772
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.609+9C>G
|
rs369980939
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.609G>A (p.Pro203=)
|
rs142373741
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.690C>T (p.Ala230=)
|
rs544724128
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)
|
rs751888532
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.708C>T (p.Ser236=)
|
rs771725195
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.726+7C>T
|
rs376318673
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.75C>T (p.Arg25=)
|
rs755799999
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.871-13C>T
|
rs778951931
|
0.00002
|
|
NM_001080.3(ALDH5A1):c.960C>T (p.Asn320=)
|
rs781439143
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1083-11T>C
|
rs777235021
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln)
|
rs772354342
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1246C>G (p.Pro416Ala)
|
rs371138043
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=)
|
rs1158411031
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1256-9T>C
|
rs758786727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)
|
rs41276888
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1394C>T (p.Ser465Leu)
|
rs544363291
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val)
|
rs750557478
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1556-17C>T
|
rs755361841
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=)
|
rs923412087
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=)
|
rs371161901
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=)
|
rs371268760
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=)
|
rs764816582
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2280-16G>A
|
rs759745350
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=)
|
rs759875039
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)
|
rs753196787
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=)
|
rs761929729
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)
|
rs371757002
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.285C>T (p.Thr95=)
|
rs758206206
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=)
|
rs1390620211
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)
|
rs1271411894
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3045G>A (p.Gly1015=)
|
rs1400869068
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3089+16C>T
|
rs897924558
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser)
|
rs969592968
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=)
|
rs916089734
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3403G>A (p.Gly1135Ser)
|
rs762006290
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=)
|
rs542849275
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3426T>C (p.Asn1142=)
|
rs1326349920
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser)
|
rs1458640910
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=)
|
rs572832442
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3883-20C>T
|
rs769443982
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4173C>T (p.Ala1391=)
|
rs371589326
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4251-19T>A
|
rs763689584
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4251-4G>A
|
rs201785699
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)
|
rs756711282
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4530C>T (p.Ile1510=)
|
rs371060261
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4591-4G>A
|
rs370348070
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)
|
rs760679421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4617C>T (p.Ser1539=)
|
rs1051975
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=)
|
rs753924411
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala)
|
rs770150171
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)
|
rs537982877
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)
|
rs200501726
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.539+12G>A
|
rs148855231
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.540-20T>C
|
rs756413933
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)
|
rs750338421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)
|
rs753229469
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5529-1267G>A
|
rs141565870
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5731+14del
|
rs762645821
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5731+20G>A
|
rs774752183
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5732-20T>C
|
rs1425639727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)
|
rs766012999
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5839+15C>T
|
rs756095565
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)
|
rs540390772
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)
|
rs369555957
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)
|
rs539347883
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6229G>A (p.Asp2077Asn)
|
rs757223826
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)
|
rs758320697
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn)
|
rs1085307866
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)
|
rs1162464868
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala)
|
rs576057388
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)
|
rs1220294928
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)
|
rs779701046
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6451C>T (p.His2151Tyr)
|
rs1005361810
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)
|
rs1374160355
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6472C>T (p.Arg2158Cys)
|
rs774289573
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)
|
rs769503871
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)
|
rs1417890059
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=)
|
rs756597852
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6526+10C>A
|
rs1425384815
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6526+7A>G
|
rs972428713
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn)
|
rs747673128
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr)
|
rs760470308
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro)
|
rs1353109044
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)
|
rs778551911
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe)
|
rs768312851
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6781-6G>A
|
rs757167417
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=)
|
rs776003939
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=)
|
rs150322170
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)
|
rs1450563045
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp)
|
rs563580010
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
|
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=)
|
rs747338200
|
0.00002
|
|
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)
|
rs138156311
|
0.00002
|
|
NM_001243279.3(ACSF3):c.294C>G (p.Val98=)
|
rs1439239345
|
0.00002
|
|
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn)
|
rs145969050
|
0.00002
|
|
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=)
|
rs749371364
|
0.00002
|
|
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)
|
rs142575695
|
0.00002
|
|
NM_001243279.3(ACSF3):c.480C>T (p.Val160=)
|
rs375671065
|
0.00002
|
|
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=)
|
rs756599875
|
0.00002
|
|
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)
|
rs771558691
|
0.00002
|
|
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=)
|
rs772996642
|
0.00002
|
|
NM_001243279.3(ACSF3):c.667-7C>T
|
rs770578916
|
0.00002
|
|
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)
|
rs145583876
|
0.00002
|
|
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=)
|
rs753810945
|
0.00002
|
|
NM_001243279.3(ACSF3):c.978-1G>A
|
rs756599931
|
0.00002
|
|
NM_001243279.3(ACSF3):c.978-5C>T
|
rs767914459
|
0.00002
|
|
NM_001258392.3(CLPB):c.1018G>A (p.Asp340Asn)
|
rs893057489
|
0.00002
|
|
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
|
rs746582120
|
0.00002
|
|
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
|
rs369380599
|
0.00002
|
|
NM_001258392.3(CLPB):c.1463G>A (p.Arg488His)
|
rs760399999
|
0.00002
|
|
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
|
rs748289105
|
0.00002
|
|
NM_001258392.3(CLPB):c.1718G>A (p.Arg573His)
|
rs765245566
|
0.00002
|
|
NM_001258392.3(CLPB):c.1786-6C>T
|
rs191389918
|
0.00002
|
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
|
NM_001258392.3(CLPB):c.266G>A (p.Gly89Glu)
|
rs374729211
|
0.00002
|
|
NM_001258392.3(CLPB):c.299G>C (p.Gly100Ala)
|
rs777039470
|
0.00002
|
|
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
|
rs549191970
|
0.00002
|
|
NM_001258392.3(CLPB):c.692G>A (p.Arg231His)
|
rs772243585
|
0.00002
|
|
NM_001258392.3(CLPB):c.694G>A (p.Ala232Thr)
|
rs779228307
|
0.00002
|
|
NM_001258392.3(CLPB):c.730G>C (p.Val244Leu)
|
rs139268876
|
0.00002
|
|
NM_001258392.3(CLPB):c.73A>G (p.Thr25Ala)
|
rs760759093
|
0.00002
|
|
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
|
rs368150943
|
0.00002
|
|
NM_001258392.3(CLPB):c.914G>A (p.Arg305His)
|
rs529206633
|
0.00002
|
|
NM_001271.4(CHD2):c.1161G>A (p.Lys387=)
|
rs756485685
|
0.00002
|
|
NM_001271.4(CHD2):c.1170A>G (p.Lys390=)
|
rs1342167975
|
0.00002
|
|
NM_001271.4(CHD2):c.1215G>A (p.Pro405=)
|
rs144294063
|
0.00002
|
|
NM_001271.4(CHD2):c.1242A>G (p.Leu414=)
|
rs749255095
|
0.00002
|
|
NM_001271.4(CHD2):c.1681G>A (p.Val561Ile)
|
rs373363898
|
0.00002
|
|
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser)
|
rs373555806
|
0.00002
|
|
NM_001271.4(CHD2):c.184A>C (p.Ser62Arg)
|
rs199670886
|
0.00002
|
|
NM_001271.4(CHD2):c.2091T>A (p.Leu697=)
|
rs770949083
|
0.00002
|
|
NM_001271.4(CHD2):c.225C>G (p.Ser75=)
|
rs144667627
|
0.00002
|
|
NM_001271.4(CHD2):c.2395C>T (p.Leu799=)
|
rs369618673
|
0.00002
|
|
NM_001271.4(CHD2):c.2565A>G (p.Ala855=)
|
rs892314237
|
0.00002
|
|
NM_001271.4(CHD2):c.2577+20G>C
|
rs771629875
|
0.00002
|
|
NM_001271.4(CHD2):c.2757G>A (p.Gly919=)
|
rs754006955
|
0.00002
|
|
NM_001271.4(CHD2):c.2974-16G>C
|
rs990532473
|
0.00002
|
|
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=)
|
rs778897064
|
0.00002
|
|
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro)
|
rs751507887
|
0.00002
|
|
NM_001271.4(CHD2):c.4098T>G (p.Pro1366=)
|
rs1478793992
|
0.00002
|
|
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln)
|
rs762950368
|
0.00002
|
|
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
|
rs368570245
|
0.00002
|
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
|
NM_001271.4(CHD2):c.4580A>G (p.Lys1527Arg)
|
rs771195215
|
0.00002
|
|
NM_001271.4(CHD2):c.4592+20C>G
|
rs377002260
|
0.00002
|
|
NM_001271.4(CHD2):c.4599A>G (p.Leu1533=)
|
rs150640503
|
0.00002
|
|
NM_001271.4(CHD2):c.4668T>C (p.His1556=)
|
rs749555682
|
0.00002
|
|
NM_001271.4(CHD2):c.4693-19G>A
|
rs764154165
|
0.00002
|
|
NM_001271.4(CHD2):c.4710C>T (p.Asp1570=)
|
rs756273030
|
0.00002
|
|
NM_001271.4(CHD2):c.4764G>A (p.Arg1588=)
|
rs762849098
|
0.00002
|
|
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe)
|
rs893203290
|
0.00002
|
|
NM_001271.4(CHD2):c.4941C>T (p.Asn1647=)
|
rs1161487399
|
0.00002
|
|
NM_001271.4(CHD2):c.5017C>T (p.His1673Tyr)
|
rs190569275
|
0.00002
|
|
NM_001271.4(CHD2):c.5054G>A (p.Arg1685His)
|
rs749360780
|
0.00002
|
|
NM_001271.4(CHD2):c.5073C>T (p.Pro1691=)
|
rs754504518
|
0.00002
|
|
NM_001271.4(CHD2):c.5095C>T (p.Pro1699Ser)
|
rs777481677
|
0.00002
|
|
NM_001271.4(CHD2):c.5128C>T (p.Arg1710Trp)
|
rs1000152328
|
0.00002
|
|
NM_001271.4(CHD2):c.5154-13A>G
|
rs747116554
|
0.00002
|
|
NM_001271.4(CHD2):c.5229A>G (p.Arg1743=)
|
rs773814385
|
0.00002
|
|
NM_001271.4(CHD2):c.5232G>A (p.Met1744Ile)
|
rs761319790
|
0.00002
|
|
NM_001271.4(CHD2):c.5245C>T (p.Pro1749Ser)
|
rs772907727
|
0.00002
|
|
NM_001271.4(CHD2):c.529G>A (p.Ala177Thr)
|
rs776393356
|
0.00002
|
|
NM_001271.4(CHD2):c.5341C>G (p.His1781Asp)
|
rs771637309
|
0.00002
|
|
NM_001271.4(CHD2):c.5370C>T (p.Pro1790=)
|
rs756324303
|
0.00002
|
|
NM_001271.4(CHD2):c.5391C>T (p.His1797=)
|
rs755395580
|
0.00002
|
|
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys)
|
rs540770153
|
0.00002
|
|
NM_001271.4(CHD2):c.569G>A (p.Arg190His)
|
rs776934265
|
0.00002
|
|
NM_001271.4(CHD2):c.595C>T (p.Arg199Cys)
|
rs764705223
|
0.00002
|
|
NM_001271.4(CHD2):c.63-15C>G
|
rs372471036
|
0.00002
|
|
NM_001271.4(CHD2):c.683A>G (p.Lys228Arg)
|
rs764468460
|
0.00002
|
|
NM_001271.4(CHD2):c.699A>G (p.Lys233=)
|
rs201178956
|
0.00002
|
|
NM_001271.4(CHD2):c.827-17A>T
|
rs765907918
|
0.00002
|
|
NM_001271.4(CHD2):c.843T>C (p.Thr281=)
|
rs752429913
|
0.00002
|
|
NM_001271.4(CHD2):c.854C>T (p.Ala285Val)
|
rs544867753
|
0.00002
|
|
NM_001271.4(CHD2):c.87G>A (p.Ser29=)
|
rs560296130
|
0.00002
|
|
NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr)
|
rs751957701
|
0.00002
|
|
NM_001278293.3(ARL6):c.185+9C>T
|
rs768962345
|
0.00002
|
|
NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly)
|
rs587777805
|
0.00002
|
|
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr)
|
rs771054395
|
0.00002
|
|
NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg)
|
rs771963434
|
0.00002
|
|
NM_001278293.3(ARL6):c.479+7T>C
|
rs924315465
|
0.00002
|
|
NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg)
|
rs764523283
|
0.00002
|
|
NM_001352514.2(HLCS):c.1290C>T (p.Ser430=)
|
rs1472760580
|
0.00002
|
|
NM_001352514.2(HLCS):c.1341C>T (p.Pro447=)
|
rs543680851
|
0.00002
|
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
|
NM_001352514.2(HLCS):c.1548A>G (p.Thr516=)
|
rs144016759
|
0.00002
|
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
|
NM_001352514.2(HLCS):c.1875G>A (p.Thr625=)
|
rs776800808
|
0.00002
|
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
|
NM_001352514.2(HLCS):c.2130C>T (p.Asn710=)
|
rs748819971
|
0.00002
|
|
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)
|
rs772791252
|
0.00002
|
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
|
NM_001352514.2(HLCS):c.2237-12G>C
|
rs1487390204
|
0.00002
|
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
|
NM_001352514.2(HLCS):c.2349C>T (p.Leu783=)
|
rs138952612
|
0.00002
|
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
|
NM_001352514.2(HLCS):c.477A>C (p.Val159=)
|
rs779019472
|
0.00002
|
|
NM_001352514.2(HLCS):c.519G>C (p.Leu173=)
|
rs142669894
|
0.00002
|
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
|
NM_001370658.1(BTD):c.-17+11G>A
|
rs563797222
|
0.00002
|
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
|
NM_001370658.1(BTD):c.1311G>A (p.Val437=)
|
rs753880468
|
0.00002
|
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
|
NM_001370658.1(BTD):c.183G>A (p.Glu61=)
|
rs753816877
|
0.00002
|
|
NM_001370658.1(BTD):c.288T>C (p.His96=)
|
rs1261536776
|
0.00002
|
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
|
NM_001370658.1(BTD):c.534C>T (p.Val178=)
|
rs757159632
|
0.00002
|
|
NM_001370658.1(BTD):c.723C>T (p.Tyr241=)
|
rs372687866
|
0.00002
|
|
NM_001370658.1(BTD):c.741G>A (p.Val247=)
|
rs552436982
|
0.00002
|
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
|
NM_001370658.1(BTD):c.852A>G (p.Pro284=)
|
rs778024234
|
0.00002
|
|
NM_001370658.1(BTD):c.972C>T (p.Leu324=)
|
rs117806438
|
0.00002
|
|
NM_001482.3(GATM):c.1042G>A (p.Asp348Asn)
|
rs755493537
|
0.00002
|
|
NM_001482.3(GATM):c.140G>A (p.Arg47Gln)
|
rs777639154
|
0.00002
|
|
NM_001482.3(GATM):c.270G>A (p.Pro90=)
|
rs923654745
|
0.00002
|
|
NM_001482.3(GATM):c.408G>A (p.Thr136=)
|
rs765074779
|
0.00002
|
|
NM_001482.3(GATM):c.494G>A (p.Ser165Asn)
|
rs780398292
|
0.00002
|
|
NM_001482.3(GATM):c.582A>G (p.Arg194=)
|
rs181118920
|
0.00002
|
|
NM_001482.3(GATM):c.644A>G (p.Lys215Arg)
|
rs759012962
|
0.00002
|
|
NM_001482.3(GATM):c.655G>A (p.Ala219Thr)
|
rs369580400
|
0.00002
|
|
NM_001482.3(GATM):c.813+6C>T
|
rs771050735
|
0.00002
|
|
NM_001482.3(GATM):c.844C>T (p.Arg282Cys)
|
rs766583032
|
0.00002
|
|
NM_001482.3(GATM):c.845G>A (p.Arg282His)
|
rs371447931
|
0.00002
|
|
NM_001482.3(GATM):c.859C>T (p.Pro287Ser)
|
rs773358289
|
0.00002
|
|
NM_001482.3(GATM):c.885C>A (p.Ser295=)
|
rs3210029
|
0.00002
|
|
NM_001482.3(GATM):c.921C>T (p.Thr307=)
|
rs778783157
|
0.00002
|
|
NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)
|
rs745900584
|
0.00002
|
|
NM_001609.4(ACADSB):c.260C>T (p.Ser87Leu)
|
rs745481903
|
0.00002
|
|
NM_001609.4(ACADSB):c.763C>T (p.Leu255Phe)
|
rs137852649
|
0.00002
|
|
NM_001609.4(ACADSB):c.915G>A (p.Ala305=)
|
rs371907721
|
0.00002
|
|
NM_001698.3(AUH):c.198C>T (p.Gly66=)
|
rs1268067238
|
0.00002
|
|
NM_001698.3(AUH):c.263-11C>T
|
rs759369259
|
0.00002
|
|
NM_001698.3(AUH):c.655+15C>T
|
rs781269099
|
0.00002
|
|
NM_001698.3(AUH):c.655+7G>A
|
rs748099966
|
0.00002
|
|
NM_001698.3(AUH):c.676C>T (p.Arg226Cys)
|
rs148157596
|
0.00002
|
|
NM_001698.3(AUH):c.719C>T (p.Ala240Val)
|
rs769894315
|
0.00002
|
|
NM_001698.3(AUH):c.722G>A (p.Arg241Gln)
|
rs1269002301
|
0.00002
|
|
NM_001698.3(AUH):c.850G>A (p.Val284Ile)
|
rs748245565
|
0.00002
|
|
NM_001698.3(AUH):c.943-6T>C
|
rs778134028
|
0.00002
|
|
NM_001739.2(CA5A):c.340+16G>A
|
rs1278259154
|
0.00002
|
|
NM_001739.2(CA5A):c.340+7G>A
|
rs1319117167
|
0.00002
|
|
NM_001739.2(CA5A):c.444C>T (p.His148=)
|
rs575569678
|
0.00002
|
|
NM_001739.2(CA5A):c.445G>A (p.Ala149Thr)
|
rs553819990
|
0.00002
|
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
|
NM_001739.2(CA5A):c.849A>G (p.Pro283=)
|
rs764416139
|
0.00002
|
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
|
NM_001875.5(CPS1):c.1275C>T (p.Val425=)
|
rs202149657
|
0.00002
|
|
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
|
rs1248150090
|
0.00002
|
|
NM_001875.5(CPS1):c.1425C>T (p.Gly475=)
|
rs764341671
|
0.00002
|
|
NM_001875.5(CPS1):c.1550-5T>C
|
rs779060657
|
0.00002
|
|
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys)
|
rs753441052
|
0.00002
|
|
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys)
|
rs754653479
|
0.00002
|
|
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
|
rs755035266
|
0.00002
|
|
NM_001875.5(CPS1):c.2256C>T (p.Asn752=)
|
rs770788292
|
0.00002
|
|
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile)
|
rs1272423772
|
0.00002
|
|
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr)
|
rs763191148
|
0.00002
|
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
|
NM_001875.5(CPS1):c.2892T>A (p.Gly964=)
|
rs770984739
|
0.00002
|
|
NM_001875.5(CPS1):c.3030G>A (p.Thr1010=)
|
rs372027160
|
0.00002
|
|
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys)
|
rs764150301
|
0.00002
|
|
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=)
|
rs1447002867
|
0.00002
|
|
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)
|
rs748968097
|
0.00002
|
|
NM_001875.5(CPS1):c.4023T>C (p.Gly1341=)
|
rs1324553117
|
0.00002
|
|
NM_001875.5(CPS1):c.4047A>G (p.Ala1349=)
|
rs772642343
|
0.00002
|
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
|
NM_001875.5(CPS1):c.764A>C (p.Glu255Ala)
|
rs780006153
|
0.00002
|
|
NM_001875.5(CPS1):c.841-8del
|
rs745402454
|
0.00002
|
|
NM_001875.5(CPS1):c.84A>G (p.Lys28=)
|
rs574128765
|
0.00002
|
|
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)
|
rs143608594
|
0.00002
|
|
NM_001876.4(CPT1A):c.123G>A (p.Lys41=)
|
rs1246674324
|
0.00002
|
|
NM_001876.4(CPT1A):c.1245G>A (p.Ala415=)
|
rs750166396
|
0.00002
|
|
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=)
|
rs764443409
|
0.00002
|
|
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=)
|
rs140332936
|
0.00002
|
|
NM_001876.4(CPT1A):c.1335C>T (p.His445=)
|
rs768418242
|
0.00002
|
|
NM_001876.4(CPT1A):c.1352+6G>A
|
rs541440067
|
0.00002
|
|
NM_001876.4(CPT1A):c.1386del (p.Phe462fs)
|
rs753776604
|
0.00002
|
|
NM_001876.4(CPT1A):c.1410C>T (p.Asn470=)
|
rs762915863
|
0.00002
|
|
NM_001876.4(CPT1A):c.1434G>A (p.Ala478=)
|
rs572938737
|
0.00002
|
|
NM_001876.4(CPT1A):c.1530G>A (p.Pro510=)
|
rs141303589
|
0.00002
|
|
NM_001876.4(CPT1A):c.1563C>T (p.Asp521=)
|
rs757551678
|
0.00002
|
|
NM_001876.4(CPT1A):c.1575+8C>T
|
rs372364901
|
0.00002
|
|
NM_001876.4(CPT1A):c.1650A>G (p.Pro550=)
|
rs771639556
|
0.00002
|
|
NM_001876.4(CPT1A):c.1719C>T (p.Ala573=)
|
rs377681307
|
0.00002
|
|
NM_001876.4(CPT1A):c.1728G>A (p.Leu576=)
|
rs751342542
|
0.00002
|
|
NM_001876.4(CPT1A):c.1741-15C>T
|
rs754694654
|
0.00002
|
|
NM_001876.4(CPT1A):c.1788C>T (p.Leu596=)
|
rs962860616
|
0.00002
|
|
NM_001876.4(CPT1A):c.1813G>A (p.Val605Met)
|
rs747835344
|
0.00002
|
|
NM_001876.4(CPT1A):c.1840G>A (p.Asp614Asn)
|
rs200893871
|
0.00002
|
|
NM_001876.4(CPT1A):c.1848G>A (p.Val616=)
|
rs764482477
|
0.00002
|
|
NM_001876.4(CPT1A):c.1851G>A (p.Arg617=)
|
rs775639278
|
0.00002
|
|
NM_001876.4(CPT1A):c.1903T>C (p.Leu635=)
|
rs372215145
|
0.00002
|
|
NM_001876.4(CPT1A):c.303G>A (p.Thr101=)
|
rs553777167
|
0.00002
|
|
NM_001876.4(CPT1A):c.318C>T (p.Ser106=)
|
rs761199292
|
0.00002
|
|
NM_001876.4(CPT1A):c.388C>T (p.Leu130Phe)
|
rs1212436657
|
0.00002
|
|
NM_001876.4(CPT1A):c.420C>T (p.His140=)
|
rs762136749
|
0.00002
|
|
NM_001876.4(CPT1A):c.432T>C (p.Ser144=)
|
rs751979703
|
0.00002
|
|
NM_001876.4(CPT1A):c.51C>T (p.Asp17=)
|
rs750719349
|
0.00002
|
|
NM_001876.4(CPT1A):c.524C>T (p.Pro175Leu)
|
rs561244283
|
0.00002
|
|
NM_001876.4(CPT1A):c.52G>A (p.Gly18Arg)
|
rs767491846
|
0.00002
|
|
NM_001876.4(CPT1A):c.634G>A (p.Gly212Ser)
|
rs141191480
|
0.00002
|
|
NM_001876.4(CPT1A):c.772-9G>A
|
rs936271013
|
0.00002
|
|
NM_001876.4(CPT1A):c.900G>T (p.Thr300=)
|
rs1273814063
|
0.00002
|
|
NM_001876.4(CPT1A):c.915C>T (p.Ser305=)
|
rs763082846
|
0.00002
|
|
NM_001918.5(DBT):c.1017+9T>C
|
rs773457541
|
0.00002
|
|
NM_001918.5(DBT):c.1210-11_1210-9del
|
rs1557944011
|
0.00002
|
|
NM_001918.5(DBT):c.1269T>C (p.Leu423=)
|
rs760929997
|
0.00002
|
|
NM_001918.5(DBT):c.15T>C (p.Arg5=)
|
rs773817425
|
0.00002
|
|
NM_001918.5(DBT):c.175+9G>A
|
rs779334816
|
0.00002
|
|
NM_001918.5(DBT):c.176-10del
|
rs745672858
|
0.00002
|
|
NM_001918.5(DBT):c.176-15C>A
|
rs762049483
|
0.00002
|
|
NM_001918.5(DBT):c.1A>G (p.Met1Val)
|
rs759312184
|
0.00002
|
|
NM_001918.5(DBT):c.34A>G (p.Arg12Gly)
|
rs1215222732
|
0.00002
|
|
NM_001918.5(DBT):c.401C>T (p.Pro134Leu)
|
rs1131691488
|
0.00002
|
|
NM_001918.5(DBT):c.434-5A>C
|
rs374530437
|
0.00002
|
|
NM_001918.5(DBT):c.62G>A (p.Arg21His)
|
rs533707792
|
0.00002
|
|
NM_001958.5(EEF1A2):c.159C>T (p.Ser53=)
|
rs766656421
|
0.00002
|
|
NM_001958.5(EEF1A2):c.477G>A (p.Glu159=)
|
rs768282017
|
0.00002
|
|
NM_001958.5(EEF1A2):c.582C>T (p.Ser194=)
|
rs759785829
|
0.00002
|
|
NM_001958.5(EEF1A2):c.591C>T (p.His197=)
|
rs544191007
|
0.00002
|
|
NM_001958.5(EEF1A2):c.72G>A (p.Thr24=)
|
rs746094472
|
0.00002
|
|
NM_001958.5(EEF1A2):c.773-15C>T
|
rs780584279
|
0.00002
|
|
NM_001958.5(EEF1A2):c.773-7T>A
|
rs766099866
|
0.00002
|
|
NM_001958.5(EEF1A2):c.783G>A (p.Thr261=)
|
rs370695849
|
0.00002
|
|
NM_001985.3(ETFB):c.134C>T (p.Ala45Val)
|
rs770414295
|
0.00002
|
|
NM_001985.3(ETFB):c.316C>T (p.Arg106Trp)
|
rs748730384
|
0.00002
|
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
|
NM_001985.3(ETFB):c.393T>C (p.Cys131=)
|
rs371564310
|
0.00002
|
|
NM_001985.3(ETFB):c.439-20C>G
|
rs755291156
|
0.00002
|
|
NM_001985.3(ETFB):c.57+7G>C
|
rs759897705
|
0.00002
|
|
NM_001985.3(ETFB):c.576C>T (p.Tyr192=)
|
rs748162444
|
0.00002
|
|
NM_001985.3(ETFB):c.702G>A (p.Thr234=)
|
rs769668781
|
0.00002
|
|
NM_002150.3(HPD):c.157G>A (p.Gly53Ser)
|
rs758064577
|
0.00002
|
|
NM_002150.3(HPD):c.222G>T (p.Ala74=)
|
rs757475819
|
0.00002
|
|
NM_002150.3(HPD):c.778G>A (p.Gly260Arg)
|
rs755816788
|
0.00002
|
|
NM_002150.3(HPD):c.93+9C>T
|
rs542121054
|
0.00002
|
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
|
NM_002225.5(IVD):c.1138+9T>G
|
rs749171166
|
0.00002
|
|
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
|
rs752374036
|
0.00002
|
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
|
NM_002225.5(IVD):c.219G>A (p.Glu73=)
|
rs748950739
|
0.00002
|
|
NM_002225.5(IVD):c.22C>T (p.Leu8=)
|
rs773816252
|
0.00002
|
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
|
NM_002225.5(IVD):c.483C>T (p.Ala161=)
|
rs751760095
|
0.00002
|
|
NM_002225.5(IVD):c.534C>A (p.Leu178=)
|
rs775318094
|
0.00002
|
|
NM_002225.5(IVD):c.540G>A (p.Ala180=)
|
rs775944806
|
0.00002
|
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
|
NM_002225.5(IVD):c.897G>A (p.Leu299=)
|
rs751049911
|
0.00002
|
|
NM_002225.5(IVD):c.9T>C (p.Thr3=)
|
rs370886046
|
0.00002
|
|
NM_002454.3(MTRR):c.1057+9C>T
|
rs752920631
|
0.00002
|
|
NM_002454.3(MTRR):c.1146+12T>C
|
rs775452380
|
0.00002
|
|
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)
|
rs1239051004
|
0.00002
|
|
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)
|
rs777997657
|
0.00002
|
|
NM_002454.3(MTRR):c.129+20A>T
|
rs758051759
|
0.00002
|
|
NM_002454.3(MTRR):c.1317T>C (p.Ser439=)
|
rs756279354
|
0.00002
|
|
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)
|
rs777447397
|
0.00002
|
|
NM_002454.3(MTRR):c.1563C>T (p.Ser521=)
|
rs757184514
|
0.00002
|
|
NM_002454.3(MTRR):c.1575A>C (p.Arg525=)
|
rs369430052
|
0.00002
|
|
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)
|
rs767321681
|
0.00002
|
|
NM_002454.3(MTRR):c.1641C>T (p.Thr547=)
|
rs1044675786
|
0.00002
|
|
NM_002454.3(MTRR):c.1769+14C>T
|
rs760216011
|
0.00002
|
|
NM_002454.3(MTRR):c.1773A>G (p.Lys591=)
|
rs760394620
|
0.00002
|
|
NM_002454.3(MTRR):c.1959A>G (p.Ala653=)
|
rs763202690
|
0.00002
|
|
NM_002454.3(MTRR):c.280C>T (p.Leu94=)
|
rs1383637211
|
0.00002
|
|
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)
|
rs763568058
|
0.00002
|
|
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)
|
rs754157293
|
0.00002
|
|
NM_002454.3(MTRR):c.459T>C (p.His153=)
|
rs1485372093
|
0.00002
|
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1198C>T (p.Arg400Cys)
|
rs907590719
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1358G>A (p.Arg453His)
|
rs765122458
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1366C>T (p.Arg456Cys)
|
rs763868475
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.1367G>A (p.Arg456His)
|
rs760865106
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.183C>T (p.Phe61=)
|
rs375400820
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2098G>A (p.Val700Ile)
|
rs375705932
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2109C>T (p.Asp703=)
|
rs779516879
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=)
|
rs1002367939
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln)
|
rs537043237
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2308G>A (p.Val770Met)
|
rs369153920
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.231C>T (p.Leu77=)
|
rs1278292461
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.2361C>T (p.Leu787=)
|
rs377506019
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.454-9A>G
|
rs775098819
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.465C>T (p.Val155=)
|
rs545084277
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.599G>A (p.Arg200His)
|
rs746256246
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.786G>C (p.Leu262Phe)
|
rs1380580792
|
0.00002
|
|
NM_002860.4(ALDH18A1):c.966C>T (p.Gly322=)
|
rs754882491
|
0.00002
|
|
NM_003042.4(SLC6A1):c.1023C>T (p.Ile341=)
|
rs775636186
|
0.00002
|
|
NM_003042.4(SLC6A1):c.126C>T (p.Pro42=)
|
rs142759144
|
0.00002
|
|
NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu)
|
rs371207948
|
0.00002
|
|
NM_003042.4(SLC6A1):c.1392G>A (p.Val464=)
|
rs770686295
|
0.00002
|
|
NM_003042.4(SLC6A1):c.1738C>T (p.Pro580Ser)
|
rs747243516
|
0.00002
|
|
NM_003042.4(SLC6A1):c.1766C>T (p.Ala589Val)
|
rs781158800
|
0.00002
|
|
NM_003042.4(SLC6A1):c.238+14C>T
|
rs138505143
|
0.00002
|
|
NM_003042.4(SLC6A1):c.378C>T (p.Gly126=)
|
rs767614653
|
0.00002
|
|
NM_003042.4(SLC6A1):c.424G>A (p.Val142Ile)
|
rs746202904
|
0.00002
|
|
NM_003042.4(SLC6A1):c.514C>T (p.Arg172Cys)
|
rs778818301
|
0.00002
|
|
NM_003042.4(SLC6A1):c.584G>A (p.Arg195His)
|
rs773445048
|
0.00002
|
|
NM_003042.4(SLC6A1):c.715-7C>T
|
rs762522852
|
0.00002
|
|
NM_003042.4(SLC6A1):c.769C>T (p.Arg257Cys)
|
rs752750805
|
0.00002
|
|
NM_003042.4(SLC6A1):c.783G>A (p.Leu261=)
|
rs779237172
|
0.00002
|
|
NM_003042.4(SLC6A1):c.786C>T (p.Pro262=)
|
rs373297474
|
0.00002
|
|
NM_003042.4(SLC6A1):c.807C>T (p.Leu269=)
|
rs769006572
|
0.00002
|
|
NM_003042.4(SLC6A1):c.864G>A (p.Ala288=)
|
rs776690821
|
0.00002
|
|
NM_003042.4(SLC6A1):c.993C>T (p.Ser331=)
|
rs376992822
|
0.00002
|
|
NM_003042.4(SLC6A1):c.999C>T (p.Phe333=)
|
rs138166453
|
0.00002
|
|
NM_003042.4(SLC6A1):c.99G>A (p.Lys33=)
|
rs767066259
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1053-19C>A
|
rs372778184
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1185A>G (p.Gln395=)
|
rs916795176
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1196G>A (p.Arg399Gln)
|
rs121908891
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1199G>A (p.Arg400His)
|
rs371219688
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1258G>C (p.Val420Leu)
|
rs535222699
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1267+20A>G
|
rs372336902
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)
|
rs778716973
|
0.00002
|
|
NM_003060.4(SLC22A5):c.1533G>C (p.Glu511Asp)
|
rs748111365
|
0.00002
|
|
NM_003060.4(SLC22A5):c.183C>G (p.Ala61=)
|
rs1226557478
|
0.00002
|
|
NM_003060.4(SLC22A5):c.208C>T (p.Arg70Trp)
|
rs753453677
|
0.00002
|
|
NM_003060.4(SLC22A5):c.306C>T (p.Asp102=)
|
rs1751854895
|
0.00002
|
|
NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly)
|
rs748605096
|
0.00002
|
|
NM_003060.4(SLC22A5):c.393+8C>T
|
rs1481183476
|
0.00002
|
|
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=)
|
rs145350949
|
0.00002
|
|
NM_003060.4(SLC22A5):c.573G>T (p.Lys191Asn)
|
rs765204844
|
0.00002
|
|
NM_003060.4(SLC22A5):c.706T>C (p.Cys236Arg)
|
rs747050292
|
0.00002
|
|
NM_003060.4(SLC22A5):c.810C>T (p.Cys270=)
|
rs200046767
|
0.00002
|
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
|
NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe)
|
rs1489260087
|
0.00002
|
|
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
|
rs386134212
|
0.00002
|
|
NM_003060.4(SLC22A5):c.878C>T (p.Ala293Val)
|
rs893286644
|
0.00002
|
|
NM_003060.4(SLC22A5):c.951G>A (p.Glu317=)
|
rs1431971523
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.361A>G (p.Ile121Val)
|
rs779876883
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.415C>T (p.Arg139Cys)
|
rs942019101
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.492G>A (p.Ala164=)
|
rs757586223
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.679-6G>A
|
rs369992538
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.749G>A (p.Arg250Gln)
|
rs758064983
|
0.00002
|
|
NM_003748.4(ALDH4A1):c.759C>T (p.Gly253=)
|
rs535815477
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg)
|
rs72552272
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1014C>G (p.Gly338=)
|
rs1195982035
|
0.00002
|
|
NM_003982.4(SLC7A7):c.106G>A (p.Glu36Lys)
|
rs763832201
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1083T>C (p.Ser361=)
|
rs768481415
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1210C>T (p.Arg404Cys)
|
rs763715975
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1228C>A (p.Arg410=)
|
rs121908678
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1251C>T (p.Ser417=)
|
rs775549397
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1335C>T (p.Ile445=)
|
rs760898785
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1359C>G (p.Gly453=)
|
rs771189806
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1429+8G>A
|
rs201766738
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1457T>C (p.Leu486Pro)
|
rs781546826
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1460del (p.Cys487fs)
|
rs386833809
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1463T>C (p.Met488Thr)
|
rs751601259
|
0.00002
|
|
NM_003982.4(SLC7A7):c.1468G>C (p.Val490Leu)
|
rs998787372
|
0.00002
|
|
NM_003982.4(SLC7A7):c.269A>T (p.Tyr90Phe)
|
rs375791337
|
0.00002
|
|
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=)
|
rs777682875
|
0.00002
|
|
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro)
|
rs386833814
|
0.00002
|
|
NM_003982.4(SLC7A7):c.545dup (p.Val183fs)
|
rs386833818
|
0.00002
|
|
NM_003982.4(SLC7A7):c.558T>C (p.Ile186=)
|
rs567180118
|
0.00002
|
|
NM_003982.4(SLC7A7):c.589G>A (p.Ala197Thr)
|
rs1005993109
|
0.00002
|
|
NM_003982.4(SLC7A7):c.597C>T (p.Ile199=)
|
rs756887684
|
0.00002
|
|
NM_003982.4(SLC7A7):c.612T>C (p.Val204=)
|
rs371412051
|
0.00002
|
|
NM_003982.4(SLC7A7):c.666A>C (p.Ser222=)
|
rs140599841
|
0.00002
|
|
NM_003982.4(SLC7A7):c.675G>C (p.Val225=)
|
rs772172822
|
0.00002
|
|
NM_003982.4(SLC7A7):c.681C>T (p.Asp227=)
|
rs774892456
|
0.00002
|
|
NM_003982.4(SLC7A7):c.688C>T (p.Leu230=)
|
rs749678651
|
0.00002
|
|
NM_003982.4(SLC7A7):c.701del (p.Tyr233_Ser234insTer)
|
rs748127544
|
0.00002
|
|
NM_003982.4(SLC7A7):c.704C>G (p.Ala235Gly)
|
rs755663586
|
0.00002
|
|
NM_003982.4(SLC7A7):c.895-20C>T
|
rs376455152
|
0.00002
|
|
NM_004408.4(DNM1):c.1161G>A (p.Glu387=)
|
rs998519750
|
0.00002
|
|
NM_004408.4(DNM1):c.1197-11C>T
|
rs764285452
|
0.00002
|
|
NM_004408.4(DNM1):c.1197-15G>A
|
rs534677463
|
0.00002
|
|
NM_004408.4(DNM1):c.1380G>C (p.Val460=)
|
rs749564973
|
0.00002
|
|
NM_004408.4(DNM1):c.1401C>T (p.Arg467=)
|
rs527820256
|
0.00002
|
|
NM_004408.4(DNM1):c.141G>T (p.Val47=)
|
rs1269297218
|
0.00002
|
|
NM_004408.4(DNM1):c.1423-14A>G
|
rs765225886
|
0.00002
|
|
NM_004408.4(DNM1):c.1558-17G>T
|
rs749222845
|
0.00002
|
|
NM_004408.4(DNM1):c.161+11C>G
|
rs1483670500
|
0.00002
|
|
NM_004408.4(DNM1):c.162-17C>T
|
rs1057524327
|
0.00002
|
|
NM_004408.4(DNM1):c.1662G>A (p.Lys554=)
|
rs371589347
|
0.00002
|
|
NM_004408.4(DNM1):c.1755C>T (p.Ile585=)
|
rs759079310
|
0.00002
|
|
NM_004408.4(DNM1):c.1860C>T (p.Phe620=)
|
rs1050799692
|
0.00002
|
|
NM_004408.4(DNM1):c.1886G>A (p.Arg629His)
|
rs778378392
|
0.00002
|
|
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn)
|
rs754501788
|
0.00002
|
|
NM_004408.4(DNM1):c.2133G>A (p.Gln711=)
|
rs1277551348
|
0.00002
|
|
NM_004408.4(DNM1):c.2586C>T (p.Phe862=)
|
rs560349998
|
0.00002
|
|
NM_004408.4(DNM1):c.261G>A (p.Lys87=)
|
rs377178808
|
0.00002
|
|
NM_004408.4(DNM1):c.293G>A (p.Arg98His)
|
rs748195071
|
0.00002
|
|
NM_004408.4(DNM1):c.689-8G>T
|
rs760856978
|
0.00002
|
|
NM_004408.4(DNM1):c.702G>A (p.Val234=)
|
rs754094661
|
0.00002
|
|
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu)
|
rs146211149
|
0.00002
|
|
NM_004408.4(DNM1):c.850-17C>G
|
rs764505046
|
0.00002
|
|
NM_004453.4(ETFDH):c.1371C>G (p.Ser457=)
|
rs749280294
|
0.00002
|
|
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp)
|
rs763912783
|
0.00002
|
|
NM_004453.4(ETFDH):c.176-7C>T
|
rs776816664
|
0.00002
|
|
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu)
|
rs761669036
|
0.00002
|
|
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
|
rs1350126940
|
0.00002
|
|
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter)
|
rs767249944
|
0.00002
|
|
NM_004453.4(ETFDH):c.558A>G (p.Gln186=)
|
rs143688210
|
0.00002
|
|
NM_004453.4(ETFDH):c.636A>T (p.Lys212Asn)
|
rs758859840
|
0.00002
|
|
NM_004453.4(ETFDH):c.808A>G (p.Thr270Ala)
|
rs398124154
|
0.00002
|
|
NM_004453.4(ETFDH):c.972+8A>G
|
rs778686663
|
0.00002
|
|
NM_004483.5(GCSH):c.226C>T (p.Gln76Ter)
|
rs769222264
|
0.00002
|
|
NM_004483.5(GCSH):c.505A>C (p.Lys169Gln)
|
rs1189328619
|
0.00002
|
|
NM_004483.5(GCSH):c.514G>A (p.Glu172Lys)
|
rs760566469
|
0.00002
|
|
NM_004483.5(GCSH):c.73C>T (p.Pro25Ser)
|
rs533447730
|
0.00002
|
|
NM_004577.4(PSPH):c.422-14A>G
|
rs749619757
|
0.00002
|
|
NM_004577.4(PSPH):c.469G>T (p.Gly157Ter)
|
rs1410416350
|
0.00002
|
|
NM_004577.4(PSPH):c.597T>G (p.Asn199Lys)
|
rs1324086852
|
0.00002
|
|
NM_004577.4(PSPH):c.635A>G (p.Tyr212Cys)
|
rs775832385
|
0.00002
|
|
NM_004937.3(CTNS):c.141-4A>C
|
rs1437667230
|
0.00002
|
|
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)
|
rs555311279
|
0.00002
|
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
|
NM_004937.3(CTNS):c.61+20G>A
|
rs760019018
|
0.00002
|
|
NM_004937.3(CTNS):c.642C>G (p.Val214=)
|
rs760843675
|
0.00002
|
|
NM_004937.3(CTNS):c.759C>T (p.Ile253=)
|
rs778758718
|
0.00002
|
|
NM_004937.3(CTNS):c.870C>T (p.Tyr290=)
|
rs776842972
|
0.00002
|
|
NM_004974.4(KCNA2):c.1053C>T (p.Ala351=)
|
rs748008112
|
0.00002
|
|
NM_004974.4(KCNA2):c.1450T>C (p.Leu484=)
|
rs139459165
|
0.00002
|
|
NM_004974.4(KCNA2):c.218G>A (p.Arg73Gln)
|
rs373042266
|
0.00002
|
|
NM_004974.4(KCNA2):c.544C>A (p.Leu182Met)
|
rs367662144
|
0.00002
|
|
NM_004974.4(KCNA2):c.590G>A (p.Gly197Asp)
|
rs752985457
|
0.00002
|
|
NM_004974.4(KCNA2):c.68A>G (p.Tyr23Cys)
|
rs753829876
|
0.00002
|
|
NM_004974.4(KCNA2):c.754A>G (p.Thr252Ala)
|
rs772053786
|
0.00002
|
|
NM_004974.4(KCNA2):c.841G>A (p.Ala281Thr)
|
rs753926939
|
0.00002
|
|
NM_004975.4(KCNB1):c.1167G>A (p.Leu389=)
|
rs771768169
|
0.00002
|
|
NM_004975.4(KCNB1):c.1207C>T (p.Leu403=)
|
rs749215518
|
0.00002
|
|
NM_004975.4(KCNB1):c.1335C>T (p.Ile445=)
|
rs368667514
|
0.00002
|
|
NM_004975.4(KCNB1):c.1387A>G (p.Ile463Val)
|
rs777560545
|
0.00002
|
|
NM_004975.4(KCNB1):c.1494C>A (p.Thr498=)
|
rs1483168827
|
0.00002
|
|
NM_004975.4(KCNB1):c.1595T>C (p.Met532Thr)
|
rs781098579
|
0.00002
|
|
NM_004975.4(KCNB1):c.1640C>T (p.Thr547Ile)
|
rs896349825
|
0.00002
|
|
NM_004975.4(KCNB1):c.1724G>A (p.Arg575His)
|
rs544069848
|
0.00002
|
|
NM_004975.4(KCNB1):c.2009G>A (p.Arg670Gln)
|
rs753575587
|
0.00002
|
|
NM_004975.4(KCNB1):c.2058C>T (p.Pro686=)
|
rs908785527
|
0.00002
|
|
NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met)
|
rs775588653
|
0.00002
|
|
NM_004975.4(KCNB1):c.2152G>A (p.Val718Met)
|
rs774976039
|
0.00002
|
|
NM_004975.4(KCNB1):c.2207G>A (p.Arg736Gln)
|
rs151175979
|
0.00002
|
|
NM_004975.4(KCNB1):c.2225C>A (p.Thr742Lys)
|
rs1218107028
|
0.00002
|
|
NM_004975.4(KCNB1):c.2248G>A (p.Ala750Thr)
|
rs758332295
|
0.00002
|
|
NM_004975.4(KCNB1):c.2271C>T (p.Asp757=)
|
rs190726852
|
0.00002
|
|
NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu)
|
rs766596568
|
0.00002
|
|
NM_004975.4(KCNB1):c.2478T>C (p.Ser826=)
|
rs554768897
|
0.00002
|
|
NM_004975.4(KCNB1):c.2516C>T (p.Pro839Leu)
|
rs761070687
|
0.00002
|
|
NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val)
|
rs1386449842
|
0.00002
|
|
NM_004975.4(KCNB1):c.513G>A (p.Lys171=)
|
rs762797906
|
0.00002
|
|
NM_004975.4(KCNB1):c.567+11G>C
|
rs772220866
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-20C>T
|
rs934317402
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-7C>T
|
rs958924629
|
0.00002
|
|
NM_004975.4(KCNB1):c.568-9T>C
|
rs771401083
|
0.00002
|
|
NM_004975.4(KCNB1):c.693C>T (p.His231=)
|
rs765195036
|
0.00002
|
|
NM_004975.4(KCNB1):c.96G>A (p.Arg32=)
|
rs781213174
|
0.00002
|
|
NM_004975.4(KCNB1):c.9G>A (p.Ala3=)
|
rs768300586
|
0.00002
|
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
|
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=)
|
rs757799492
|
0.00002
|
|
NM_005050.4(ABCD4):c.1559+20G>A
|
rs572419384
|
0.00002
|
|
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)
|
rs141766346
|
0.00002
|
|
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)
|
rs761917106
|
0.00002
|
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
|
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
|
rs368694663
|
0.00002
|
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
|
NM_005271.5(GLUD1):c.432G>T (p.Thr144=)
|
rs1423075857
|
0.00002
|
|
NM_005271.5(GLUD1):c.526+11G>A
|
rs757850230
|
0.00002
|
|
NM_005271.5(GLUD1):c.527-4T>G
|
rs779153065
|
0.00002
|
|
NM_005327.7(HADH):c.261+17G>A
|
rs185657456
|
0.00002
|
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
|
NM_005327.7(HADH):c.827-9G>A
|
rs1363052334
|
0.00002
|
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
|
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)
|
rs398124206
|
0.00002
|
|
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
|
NM_005334.3(HCFC1):c.4275C>T (p.His1425=)
|
rs782707963
|
0.00002
|
|
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)
|
rs781961897
|
0.00002
|
|
NM_005334.3(HCFC1):c.4497+4A>G
|
rs782206577
|
0.00002
|
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
|
NM_005334.3(HCFC1):c.5261-17A>G
|
rs782143370
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
|
NM_005518.4(HMGCS2):c.1127C>T (p.Thr376Ile)
|
rs772359110
|
0.00002
|
|
NM_005518.4(HMGCS2):c.1220T>C (p.Ile407Thr)
|
rs766898190
|
0.00002
|
|
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)
|
rs773364048
|
0.00002
|
|
NM_005518.4(HMGCS2):c.346C>T (p.Arg116Cys)
|
rs200607527
|
0.00002
|
|
NM_005518.4(HMGCS2):c.685+2T>A
|
rs796051979
|
0.00002
|
|
NM_005518.4(HMGCS2):c.695G>T (p.Gly232Val)
|
rs1002548815
|
0.00002
|
|
NM_005518.4(HMGCS2):c.744G>A (p.Ser248=)
|
rs1219952938
|
0.00002
|
|
NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn)
|
rs775637086
|
0.00002
|
|
NM_005518.4(HMGCS2):c.891C>T (p.Tyr297=)
|
rs1048438
|
0.00002
|
|
NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys)
|
rs781567781
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1080C>T (p.Phe360=)
|
rs782576449
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=)
|
rs1458755240
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1254+10G>A
|
rs1478635455
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=)
|
rs781788160
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=)
|
rs371599516
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1393-11C>T
|
rs1341948115
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=)
|
rs782302903
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=)
|
rs781974297
|
0.00002
|
|
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=)
|
rs782232933
|
0.00002
|
|
NM_005629.4(SLC6A8):c.146T>C (p.Val49Ala)
|
rs1557043838
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=)
|
rs151335200
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1597-18C>T
|
rs781842035
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=)
|
rs369726574
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1620G>A (p.Val540=)
|
rs781947969
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1627G>A (p.Glu543Lys)
|
rs782028471
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1683C>A (p.Gly561=)
|
rs1286428662
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1698G>C (p.Leu566=)
|
rs782287646
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1710G>A (p.Leu570=)
|
rs782662808
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1731G>A (p.Leu577=)
|
rs1603217844
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1743C>T (p.Leu581=)
|
rs782036265
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1767G>A (p.Glu589=)
|
rs1131691726
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1768-9C>G
|
rs782234529
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1819C>G (p.Arg607Gly)
|
rs1377233837
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1831G>A (p.Ala611Thr)
|
rs146949376
|
0.00002
|
|
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln)
|
rs201637740
|
0.00002
|
|
NM_005629.4(SLC6A8):c.263-19G>A
|
rs202034702
|
0.00002
|
|
NM_005629.4(SLC6A8):c.286C>T (p.Leu96=)
|
rs141438791
|
0.00002
|
|
NM_005629.4(SLC6A8):c.421G>A (p.Val141Ile)
|
rs1557044413
|
0.00002
|
|
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=)
|
rs202136567
|
0.00002
|
|
NM_005629.4(SLC6A8):c.639C>T (p.Phe213=)
|
rs1057523082
|
0.00002
|
|
NM_005629.4(SLC6A8):c.644+8C>T
|
rs782433720
|
0.00002
|
|
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro)
|
rs1557043775
|
0.00002
|
|
NM_005629.4(SLC6A8):c.747T>C (p.Cys249=)
|
rs782688272
|
0.00002
|
|
NM_005629.4(SLC6A8):c.760G>A (p.Val254Ile)
|
rs782287359
|
0.00002
|
|
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg)
|
rs1233444890
|
0.00002
|
|
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His)
|
rs782802482
|
0.00002
|
|
NM_005629.4(SLC6A8):c.852C>T (p.Gly284=)
|
rs1557044971
|
0.00002
|
|
NM_005629.4(SLC6A8):c.90C>T (p.Ala30=)
|
rs1557043794
|
0.00002
|
|
NM_005881.4(BCKDK):c.717-4G>A
|
rs200045337
|
0.00002
|
|
NM_005957.5(MTHFR):c.1011G>A (p.Gly337=)
|
rs755483936
|
0.00002
|
|
NM_005957.5(MTHFR):c.1482C>T (p.Ser494=)
|
rs765736104
|
0.00002
|
|
NM_005957.5(MTHFR):c.1752+12G>A
|
rs541364916
|
0.00002
|
|
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly)
|
rs761226286
|
0.00002
|
|
NM_005957.5(MTHFR):c.1770G>A (p.Leu590=)
|
rs554668389
|
0.00002
|
|
NM_005957.5(MTHFR):c.1857C>T (p.Val619=)
|
rs572292225
|
0.00002
|
|
NM_005957.5(MTHFR):c.1932C>A (p.Asn644Lys)
|
rs200947520
|
0.00002
|
|
NM_005957.5(MTHFR):c.236+8C>T
|
rs778531212
|
0.00002
|
|
NM_005957.5(MTHFR):c.330G>C (p.Met110Ile)
|
rs781158269
|
0.00002
|
|
NM_005957.5(MTHFR):c.376C>T (p.Leu126=)
|
rs775190597
|
0.00002
|
|
NM_005957.5(MTHFR):c.453G>A (p.Lys151=)
|
rs750818024
|
0.00002
|
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
|
NM_005957.5(MTHFR):c.575T>C (p.Ile192Thr)
|
rs765834557
|
0.00002
|
|
NM_005957.5(MTHFR):c.606C>T (p.Pro202=)
|
rs13306554
|
0.00002
|
|
NM_005957.5(MTHFR):c.813G>A (p.Leu271=)
|
rs781214043
|
0.00002
|
|
NM_005957.5(MTHFR):c.815C>T (p.Ser272Phe)
|
rs1160573823
|
0.00002
|
|
NM_006623.4(PHGDH):c.1096G>T (p.Ala366Ser)
|
rs138515760
|
0.00002
|
|
NM_006623.4(PHGDH):c.1129G>A (p.Gly377Ser)
|
rs267606948
|
0.00002
|
|
NM_006623.4(PHGDH):c.1149C>T (p.Ser383=)
|
rs145449458
|
0.00002
|
|
NM_006623.4(PHGDH):c.1272C>T (p.Ala424=)
|
rs61743646
|
0.00002
|
|
NM_006623.4(PHGDH):c.1362G>T (p.Arg454Ser)
|
rs140457132
|
0.00002
|
|
NM_006623.4(PHGDH):c.1365A>G (p.Pro455=)
|
rs1264262485
|
0.00002
|
|
NM_006623.4(PHGDH):c.1406G>A (p.Arg469Gln)
|
rs139764141
|
0.00002
|
|
NM_006623.4(PHGDH):c.1447+9G>A
|
rs200578872
|
0.00002
|
|
NM_006623.4(PHGDH):c.1521C>T (p.His507=)
|
rs145182036
|
0.00002
|
|
NM_006623.4(PHGDH):c.222C>A (p.Gly74=)
|
rs746248451
|
0.00002
|
|
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met)
|
rs764618040
|
0.00002
|
|
NM_006623.4(PHGDH):c.400G>A (p.Glu134Lys)
|
rs139129607
|
0.00002
|
|
NM_006623.4(PHGDH):c.404G>A (p.Arg135Gln)
|
rs774423823
|
0.00002
|
|
NM_006623.4(PHGDH):c.411+10G>A
|
rs754273367
|
0.00002
|
|
NM_006623.4(PHGDH):c.429G>A (p.Leu143=)
|
rs1417980204
|
0.00002
|
|
NM_006623.4(PHGDH):c.511-4C>A
|
rs1294928573
|
0.00002
|
|
NM_006623.4(PHGDH):c.644-4C>T
|
rs750611174
|
0.00002
|
|
NM_006623.4(PHGDH):c.745C>T (p.Leu249=)
|
rs779555619
|
0.00002
|
|
NM_006623.4(PHGDH):c.772G>T (p.Ala258Ser)
|
rs1375551954
|
0.00002
|
|
NM_006623.4(PHGDH):c.788C>T (p.Thr263Met)
|
rs773221019
|
0.00002
|
|
NM_006623.4(PHGDH):c.793-16A>G
|
rs182868038
|
0.00002
|
|
NM_006623.4(PHGDH):c.793-17T>C
|
rs777684647
|
0.00002
|
|
NM_006623.4(PHGDH):c.793-6G>T
|
rs759639493
|
0.00002
|
|
NM_006623.4(PHGDH):c.804G>A (p.Arg268=)
|
rs587719252
|
0.00002
|
|
NM_006623.4(PHGDH):c.909C>T (p.Phe303=)
|
rs762185673
|
0.00002
|
|
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)
|
rs185737442
|
0.00002
|
|
NM_006859.4(LIAS):c.234A>G (p.Pro78=)
|
rs766730917
|
0.00002
|
|
NM_006859.4(LIAS):c.403G>C (p.Asp135His)
|
rs772011702
|
0.00002
|
|
NM_006859.4(LIAS):c.46-16T>C
|
rs752442762
|
0.00002
|
|
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
|
rs1328126199
|
0.00002
|
|
NM_006859.4(LIAS):c.737+11G>A
|
rs760672937
|
0.00002
|
|
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg)
|
rs1375530921
|
0.00002
|
|
NM_006859.4(LIAS):c.890G>A (p.Arg297His)
|
rs756021613
|
0.00002
|
|
NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn)
|
rs76060070
|
0.00002
|
|
NM_012213.3(MLYCD):c.1058A>C (p.Glu353Ala)
|
rs966540879
|
0.00002
|
|
NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu)
|
rs1287261177
|
0.00002
|
|
NM_012213.3(MLYCD):c.1179G>A (p.Ala393=)
|
rs564269563
|
0.00002
|
|
NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp)
|
rs771229830
|
0.00002
|
|
NM_012213.3(MLYCD):c.208G>A (p.Asp70Asn)
|
rs1336491665
|
0.00002
|
|
NM_012213.3(MLYCD):c.334C>T (p.Leu112=)
|
rs751532385
|
0.00002
|
|
NM_012213.3(MLYCD):c.528+10C>T
|
rs1177520551
|
0.00002
|
|
NM_012213.3(MLYCD):c.615G>A (p.Pro205=)
|
rs572295105
|
0.00002
|
|
NM_012213.3(MLYCD):c.641+12G>A
|
rs186425334
|
0.00002
|
|
NM_012213.3(MLYCD):c.798+9G>A
|
rs752966506
|
0.00002
|
|
NM_012213.3(MLYCD):c.879G>A (p.Leu293=)
|
rs1907207894
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1048G>A (p.Asp350Asn)
|
rs1312396424
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1344T>C (p.Pro448=)
|
rs1037190907
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1353C>T (p.Ile451=)
|
rs267601652
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1419C>T (p.Val473=)
|
rs201598915
|
0.00002
|
|
NM_014251.3(SLC25A13):c.15+1G>A
|
rs748094224
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=)
|
rs144494809
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1631T>C (p.Ile544Thr)
|
rs754054414
|
0.00002
|
|
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=)
|
rs765192701
|
0.00002
|
|
NM_014251.3(SLC25A13):c.332A>G (p.Asp111Gly)
|
rs766809778
|
0.00002
|
|
NM_014251.3(SLC25A13):c.798C>T (p.Pro266=)
|
rs988236127
|
0.00002
|
|
NM_014252.4(SLC25A15):c.144C>T (p.Thr48=)
|
rs376634191
|
0.00002
|
|
NM_014252.4(SLC25A15):c.181C>T (p.Arg61Cys)
|
rs552342390
|
0.00002
|
|
NM_014252.4(SLC25A15):c.217G>A (p.Ala73Thr)
|
rs531611390
|
0.00002
|
|
NM_014252.4(SLC25A15):c.314+10G>A
|
rs538900917
|
0.00002
|
|
NM_014252.4(SLC25A15):c.336C>T (p.Ala112=)
|
rs371187770
|
0.00002
|
|
NM_014252.4(SLC25A15):c.397C>T (p.Arg133Trp)
|
rs573469049
|
0.00002
|
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
|
NM_014252.4(SLC25A15):c.567T>C (p.Gly189=)
|
rs1266409173
|
0.00002
|
|
NM_014252.4(SLC25A15):c.581G>A (p.Ser194Asn)
|
rs746179010
|
0.00002
|
|
NM_014252.4(SLC25A15):c.756C>T (p.Thr252=)
|
rs11618618
|
0.00002
|
|
NM_014252.4(SLC25A15):c.79G>A (p.Gly27Arg)
|
rs104894430
|
0.00002
|
|
NM_014252.4(SLC25A15):c.862G>A (p.Glu288Lys)
|
rs751176510
|
0.00002
|
|
NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)
|
rs778434126
|
0.00002
|
|
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)
|
rs758938066
|
0.00002
|
|
NM_014362.4(HIBCH):c.438+11T>G
|
rs1414998551
|
0.00002
|
|
NM_014384.3(ACAD8):c.1036G>A (p.Asp346Asn)
|
rs150537378
|
0.00002
|
|
NM_014384.3(ACAD8):c.1133A>C (p.Tyr378Ser)
|
rs779459988
|
0.00002
|
|
NM_014384.3(ACAD8):c.289G>A (p.Gly97Arg)
|
rs371033488
|
0.00002
|
|
NM_014384.3(ACAD8):c.290G>A (p.Gly97Glu)
|
rs1433228446
|
0.00002
|
|
NM_014384.3(ACAD8):c.491-6C>T
|
rs772337149
|
0.00002
|
|
NM_014384.3(ACAD8):c.841+6A>C
|
rs199738913
|
0.00002
|
|
NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
|
rs121908422
|
0.00002
|
|
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)
|
rs1415635839
|
0.00002
|
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
|
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)
|
rs765769901
|
0.00002
|
|
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
|
rs775173474
|
0.00002
|
|
NM_015506.3(MMACHC):c.429+14T>G
|
rs371226986
|
0.00002
|
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
|
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
|
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)
|
rs778330842
|
0.00002
|
|
NM_015509.4(NECAP1):c.137G>A (p.Arg46His)
|
rs751979807
|
0.00002
|
|
NM_015509.4(NECAP1):c.180C>T (p.Leu60=)
|
rs374460096
|
0.00002
|
|
NM_015509.4(NECAP1):c.196+11C>T
|
rs375832217
|
0.00002
|
|
NM_015509.4(NECAP1):c.383+10G>C
|
rs1465757811
|
0.00002
|
|
NM_015509.4(NECAP1):c.437G>A (p.Arg146His)
|
rs769210779
|
0.00002
|
|
NM_015509.4(NECAP1):c.647C>T (p.Pro216Leu)
|
rs748757462
|
0.00002
|
|
NM_015509.4(NECAP1):c.723A>G (p.Ala241=)
|
rs1311591214
|
0.00002
|
|
NM_015662.3(IFT172):c.1005+10A>T
|
rs771534291
|
0.00002
|
|
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val)
|
rs774559020
|
0.00002
|
|
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser)
|
rs962054597
|
0.00002
|
|
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg)
|
rs746834072
|
0.00002
|
|
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp)
|
rs1350745027
|
0.00002
|
|
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile)
|
rs528303561
|
0.00002
|
|
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn)
|
rs747544155
|
0.00002
|
|
NM_015662.3(IFT172):c.15C>T (p.His5=)
|
rs377627847
|
0.00002
|
|
NM_015662.3(IFT172):c.1638G>A (p.Leu546=)
|
rs372659702
|
0.00002
|
|
NM_015662.3(IFT172):c.1655T>C (p.Ile552Thr)
|
rs369863525
|
0.00002
|
|
NM_015662.3(IFT172):c.1693-19G>T
|
rs202039261
|
0.00002
|
|
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His)
|
rs1667049048
|
0.00002
|
|
NM_015662.3(IFT172):c.183+17T>C
|
rs754011076
|
0.00002
|
|
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln)
|
rs376890875
|
0.00002
|
|
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr)
|
rs777173046
|
0.00002
|
|
NM_015662.3(IFT172):c.2026G>A (p.Gly676Arg)
|
rs761290683
|
0.00002
|
|
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr)
|
rs188779949
|
0.00002
|
|
NM_015662.3(IFT172):c.2194-7T>C
|
rs569757422
|
0.00002
|
|
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp)
|
rs773174861
|
0.00002
|
|
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys)
|
rs1036729851
|
0.00002
|
|
NM_015662.3(IFT172):c.2578T>C (p.Trp860Arg)
|
rs748125718
|
0.00002
|
|
NM_015662.3(IFT172):c.2667C>T (p.Ala889=)
|
rs753125303
|
0.00002
|
|
NM_015662.3(IFT172):c.2722C>T (p.Arg908Trp)
|
rs745644146
|
0.00002
|
|
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His)
|
rs375879787
|
0.00002
|
|
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=)
|
rs755900185
|
0.00002
|
|
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala)
|
rs138139922
|
0.00002
|
|
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln)
|
rs759282959
|
0.00002
|
|
NM_015662.3(IFT172):c.3229-4A>G
|
rs766026056
|
0.00002
|
|
NM_015662.3(IFT172):c.328A>T (p.Ile110Phe)
|
rs747883999
|
0.00002
|
|
NM_015662.3(IFT172):c.336+14C>T
|
rs780202491
|
0.00002
|
|
NM_015662.3(IFT172):c.3711+15G>A
|
rs778810233
|
0.00002
|
|
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys)
|
rs375755957
|
0.00002
|
|
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=)
|
rs768705269
|
0.00002
|
|
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His)
|
rs202236985
|
0.00002
|
|
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=)
|
rs367670487
|
0.00002
|
|
NM_015662.3(IFT172):c.402+2T>G
|
rs774548930
|
0.00002
|
|
NM_015662.3(IFT172):c.403-16A>G
|
rs367657817
|
0.00002
|
|
NM_015662.3(IFT172):c.4051-20G>A
|
rs761286001
|
0.00002
|
|
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys)
|
rs753783467
|
0.00002
|
|
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys)
|
rs779981992
|
0.00002
|
|
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr)
|
rs1461000488
|
0.00002
|
|
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His)
|
rs772212247
|
0.00002
|
|
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu)
|
rs777573615
|
0.00002
|
|
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln)
|
rs747215055
|
0.00002
|
|
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser)
|
rs760535770
|
0.00002
|
|
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr)
|
rs759653536
|
0.00002
|
|
NM_015662.3(IFT172):c.4539+10C>T
|
rs778633701
|
0.00002
|
|
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr)
|
rs770733075
|
0.00002
|
|
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala)
|
rs769170592
|
0.00002
|
|
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=)
|
rs371031629
|
0.00002
|
|
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=)
|
rs530107456
|
0.00002
|
|
NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser)
|
rs755477787
|
0.00002
|
|
NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn)
|
rs755717990
|
0.00002
|
|
NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala)
|
rs774361785
|
0.00002
|
|
NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser)
|
rs766918099
|
0.00002
|
|
NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn)
|
rs972056548
|
0.00002
|
|
NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)
|
rs200049734
|
0.00002
|
|
NM_015662.3(IFT172):c.529G>A (p.Val177Ile)
|
rs754880269
|
0.00002
|
|
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln)
|
rs777862424
|
0.00002
|
|
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln)
|
rs767999703
|
0.00002
|
|
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp)
|
rs772012378
|
0.00002
|
|
NM_015662.3(IFT172):c.771A>G (p.Leu257=)
|
rs756245677
|
0.00002
|
|
NM_015662.3(IFT172):c.780T>C (p.Tyr260=)
|
rs752770691
|
0.00002
|
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
|
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
0.00002
|
|
NM_016335.6(PRODH):c.1174C>T (p.Arg392Cys)
|
rs1336190354
|
0.00002
|
|
NM_016335.6(PRODH):c.1251+10C>T
|
rs755799435
|
0.00002
|
|
NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys)
|
rs1239323884
|
0.00002
|
|
NM_016335.6(PRODH):c.468G>A (p.Glu156=)
|
rs749195093
|
0.00002
|
|
NM_016579.4(CD320):c.126C>T (p.Thr42=)
|
rs551205813
|
0.00002
|
|
NM_016579.4(CD320):c.318C>T (p.Leu106=)
|
rs369646365
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1188+7A>T
|
rs375681915
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1418-16T>C
|
rs753105951
|
0.00002
|
|
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)
|
rs944285630
|
0.00002
|
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
|
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=)
|
rs368494826
|
0.00002
|
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1040C>T (p.Thr347Met)
|
rs760006425
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1113C>A (p.Thr371=)
|
rs191543372
|
0.00002
|
|
NM_018706.7(DHTKD1):c.115G>A (p.Glu39Lys)
|
rs757691933
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1258C>T (p.Arg420Cys)
|
rs762746645
|
0.00002
|
|
NM_018706.7(DHTKD1):c.154+19G>A
|
rs767736649
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1742C>G (p.Ser581Cys)
|
rs1348311643
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys)
|
rs375292909
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1853T>A (p.Ile618Asn)
|
rs761295635
|
0.00002
|
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2031C>T (p.Asp677=)
|
rs779425467
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2103C>T (p.Tyr701=)
|
rs766801757
|
0.00002
|
|
NM_018706.7(DHTKD1):c.22G>A (p.Ala8Thr)
|
rs371803487
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2319+12G>A
|
rs750847492
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2370G>A (p.Pro790=)
|
rs745636733
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2377G>A (p.Gly793Ser)
|
rs376837792
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2390T>C (p.Val797Ala)
|
rs545835536
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2429G>A (p.Gly810Asp)
|
rs781524340
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2456A>G (p.Gln819Arg)
|
rs749073861
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2559C>G (p.Tyr853Ter)
|
rs758290860
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2658+2del
|
rs1453191182
|
0.00002
|
|
NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr)
|
rs767599280
|
0.00002
|
|
NM_018706.7(DHTKD1):c.306G>A (p.Thr102=)
|
rs775431352
|
0.00002
|
|
NM_018706.7(DHTKD1):c.432C>A (p.Asp144Glu)
|
rs555471579
|
0.00002
|
|
NM_018706.7(DHTKD1):c.614T>G (p.Leu205Arg)
|
rs996258907
|
0.00002
|
|
NM_018706.7(DHTKD1):c.64C>A (p.Arg22Ser)
|
rs764415717
|
0.00002
|
|
NM_018706.7(DHTKD1):c.717+13G>A
|
rs778027470
|
0.00002
|
|
NM_018706.7(DHTKD1):c.780C>T (p.Asp260=)
|
rs143069945
|
0.00002
|
|
NM_018706.7(DHTKD1):c.8C>G (p.Ser3Cys)
|
rs765392621
|
0.00002
|
|
NM_018706.7(DHTKD1):c.976A>G (p.Ile326Val)
|
rs745602291
|
0.00002
|
|
NM_018706.7(DHTKD1):c.9T>A (p.Ser3=)
|
rs367959044
|
0.00002
|
|
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=)
|
rs762544072
|
0.00002
|
|
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu)
|
rs371219844
|
0.00002
|
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
|
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
|
rs77681010
|
0.00002
|
|
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
|
rs756076414
|
0.00002
|
|
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr)
|
rs796051987
|
0.00002
|
|
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
|
rs150835353
|
0.00002
|
|
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
|
rs761480737
|
0.00002
|
|
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=)
|
rs147087448
|
0.00002
|
|
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer)
|
rs119103217
|
0.00002
|
|
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr)
|
rs778145370
|
0.00002
|
|
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
|
rs375244642
|
0.00002
|
|
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
|
rs761110034
|
0.00002
|
|
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser)
|
rs202197951
|
0.00002
|
|
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
|
rs375326791
|
0.00002
|
|
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
|
rs765869735
|
0.00002
|
|
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
|
rs760366008
|
0.00002
|
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
|
NM_020166.5(MCCC1):c.639+9G>T
|
rs780170482
|
0.00002
|
|
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu)
|
rs202083272
|
0.00002
|
|
NM_020166.5(MCCC1):c.761+14A>G
|
rs372797109
|
0.00002
|
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
|
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
|
rs753650692
|
0.00002
|
|
NM_020686.6(ABAT):c.1054G>A (p.Val352Met)
|
rs775462540
|
0.00002
|
|
NM_020686.6(ABAT):c.1062C>T (p.Thr354=)
|
rs772989994
|
0.00002
|
|
NM_020686.6(ABAT):c.106G>A (p.Asp36Asn)
|
rs766849835
|
0.00002
|
|
NM_020686.6(ABAT):c.1113G>A (p.Arg371=)
|
rs1000294391
|
0.00002
|
|
NM_020686.6(ABAT):c.199-9T>A
|
rs767501137
|
0.00002
|
|
NM_020686.6(ABAT):c.367-11C>T
|
rs368243612
|
0.00002
|
|
NM_020686.6(ABAT):c.431G>A (p.Arg144Gln)
|
rs745491786
|
0.00002
|
|
NM_020686.6(ABAT):c.462G>C (p.Gly154=)
|
rs892963068
|
0.00002
|
|
NM_020686.6(ABAT):c.484G>A (p.Ala162Thr)
|
rs750911984
|
0.00002
|
|
NM_020686.6(ABAT):c.486C>T (p.Ala162=)
|
rs763045532
|
0.00002
|
|
NM_020686.6(ABAT):c.618C>T (p.Pro206=)
|
rs373357773
|
0.00002
|
|
NM_020686.6(ABAT):c.667+15T>C
|
rs753309345
|
0.00002
|
|
NM_020686.6(ABAT):c.70+12G>A
|
rs760345321
|
0.00002
|
|
NM_020686.6(ABAT):c.830T>C (p.Ile277Thr)
|
rs540071491
|
0.00002
|
|
NM_020686.6(ABAT):c.873C>T (p.Ile291=)
|
rs775338476
|
0.00002
|
|
NM_020686.6(ABAT):c.961T>C (p.Cys321Arg)
|
rs1458922038
|
0.00002
|
|
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=)
|
rs766440020
|
0.00002
|
|
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
|
rs752139859
|
0.00002
|
|
NM_022132.5(MCCC2):c.1216+8A>G
|
rs532313245
|
0.00002
|
|
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
|
rs754213093
|
0.00002
|
|
NM_022132.5(MCCC2):c.129+3A>G
|
rs1352606118
|
0.00002
|
|
NM_022132.5(MCCC2):c.1334A>G (p.Tyr445Cys)
|
rs145475202
|
0.00002
|
|
NM_022132.5(MCCC2):c.1373+18C>T
|
rs200716557
|
0.00002
|
|
NM_022132.5(MCCC2):c.1488+10del
|
rs767400522
|
0.00002
|
|
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg)
|
rs979584886
|
0.00002
|
|
NM_022132.5(MCCC2):c.1574+1G>A
|
rs730880265
|
0.00002
|
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
|
NM_022132.5(MCCC2):c.78C>T (p.Asp26=)
|
rs774475879
|
0.00002
|
|
NM_022132.5(MCCC2):c.903+9G>A
|
rs747069963
|
0.00002
|
|
NM_025136.4(OPA3):c.142+16A>G
|
rs1969904812
|
0.00002
|
|
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
|
rs763315476
|
0.00002
|
|
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr)
|
rs186796646
|
0.00002
|
|
NM_025136.4(OPA3):c.333G>A (p.Lys111=)
|
rs761583193
|
0.00002
|
|
NM_025136.4(OPA3):c.336G>A (p.Glu112=)
|
rs146349367
|
0.00002
|
|
NM_025136.4(OPA3):c.351T>C (p.Ala117=)
|
rs760489108
|
0.00002
|
|
NM_025136.4(OPA3):c.519A>G (p.Ala173=)
|
rs1200579847
|
0.00002
|
|
NM_025136.4(OPA3):c.528G>A (p.Ala176=)
|
rs752240099
|
0.00002
|
|
NM_025136.4(OPA3):c.540G>A (p.Ter180=)
|
rs774281852
|
0.00002
|
|
NM_032601.4(MCEE):c.376G>A (p.Glu126Lys)
|
rs779113206
|
0.00002
|
|
NM_032861.4(SERAC1):c.1270A>G (p.Met424Val)
|
rs367903368
|
0.00002
|
|
NM_032861.4(SERAC1):c.1309-19T>G
|
rs372001660
|
0.00002
|
|
NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)
|
rs1331741437
|
0.00002
|
|
NM_032861.4(SERAC1):c.1684+7C>A
|
rs765831183
|
0.00002
|
|
NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)
|
rs780572089
|
0.00002
|
|
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter)
|
rs529232938
|
0.00002
|
|
NM_032861.4(SERAC1):c.266-11A>G
|
rs574469098
|
0.00002
|
|
NM_032861.4(SERAC1):c.487+5T>C
|
rs748641688
|
0.00002
|
|
NM_032861.4(SERAC1):c.932G>T (p.Cys311Phe)
|
rs1449129513
|
0.00002
|
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
|
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
|
rs1461731163
|
0.00002
|
|
NM_052845.4(MMAB):c.644+8C>T
|
rs770159367
|
0.00002
|
|
NM_052845.4(MMAB):c.645-6C>T
|
rs766039550
|
0.00002
|
|
NM_054012.4(ASS1):c.1127+15C>T
|
rs1057523862
|
0.00002
|
|
NM_054012.4(ASS1):c.1194-1G>C
|
rs727503814
|
0.00002
|
|
NM_054012.4(ASS1):c.144G>A (p.Arg48=)
|
rs756107583
|
0.00002
|
|
NM_054012.4(ASS1):c.294C>T (p.Ile98=)
|
rs183370361
|
0.00002
|
|
NM_054012.4(ASS1):c.336G>A (p.Lys112=)
|
rs374535616
|
0.00002
|
|
NM_054012.4(ASS1):c.381G>A (p.Arg127=)
|
rs1338613142
|
0.00002
|
|
NM_054012.4(ASS1):c.490G>A (p.Ala164Thr)
|
rs201445618
|
0.00002
|
|
NM_054012.4(ASS1):c.495+9G>A
|
rs767706288
|
0.00002
|
|
NM_054012.4(ASS1):c.534G>A (p.Pro178=)
|
rs113818350
|
0.00002
|
|
NM_054012.4(ASS1):c.567-4G>A
|
rs754758285
|
0.00002
|
|
NM_054012.4(ASS1):c.567-5C>T
|
rs753543907
|
0.00002
|
|
NM_054012.4(ASS1):c.726C>T (p.Thr242=)
|
rs768496429
|
0.00002
|
|
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)
|
rs371265106
|
0.00002
|
|
NM_054012.4(ASS1):c.920G>A (p.Arg307His)
|
rs571576756
|
0.00002
|
|
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg)
|
rs199751308
|
0.00002
|
|
NM_054012.4(ASS1):c.930A>G (p.Lys310=)
|
rs200219927
|
0.00002
|
|
NM_054012.4(ASS1):c.94A>G (p.Ile32Val)
|
rs142221856
|
0.00002
|
|
NM_054012.4(ASS1):c.966T>C (p.Tyr322=)
|
rs750851227
|
0.00002
|
|
NM_058179.4(PSAT1):c.1007+16A>G
|
rs1385813794
|
0.00002
|
|
NM_058179.4(PSAT1):c.398-9C>G
|
rs542270699
|
0.00002
|
|
NM_058179.4(PSAT1):c.447G>A (p.Val149=)
|
rs745905648
|
0.00002
|
|
NM_058179.4(PSAT1):c.449A>G (p.Tyr150Cys)
|
rs371706852
|
0.00002
|
|
NM_058179.4(PSAT1):c.571-4T>A
|
rs539694042
|
0.00002
|
|
NM_058179.4(PSAT1):c.60+8C>G
|
rs753386884
|
0.00002
|
|
NM_058179.4(PSAT1):c.664C>T (p.Arg222Ter)
|
rs765723196
|
0.00002
|
|
NM_058179.4(PSAT1):c.740+3A>G
|
rs1203560717
|
0.00002
|
|
NM_058179.4(PSAT1):c.94T>C (p.Tyr32His)
|
rs373736401
|
0.00002
|
|
NM_145261.4(DNAJC19):c.129+6A>G
|
rs192629594
|
0.00002
|
|
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val)
|
rs372756221
|
0.00002
|
|
NM_145261.4(DNAJC19):c.210-17T>C
|
rs750700018
|
0.00002
|
|
NM_145261.4(DNAJC19):c.83A>G (p.His28Arg)
|
rs776130966
|
0.00002
|
|
NM_145261.4(DNAJC19):c.90G>A (p.Glu30=)
|
rs367996239
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=)
|
rs772729729
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser)
|
rs749415090
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1377+14G>A
|
rs781546106
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1377+19C>T
|
rs753305419
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)
|
rs753355844
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg)
|
rs773361163
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val)
|
rs374619489
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
|
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
|
rs769399813
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
|
rs367648422
|
0.00002
|
|
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
|
rs374563604
|
0.00002
|
|
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)
|
rs372055513
|
0.00002
|
|
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
|
rs751419441
|
0.00002
|
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
|
NM_152419.3(HGSNAT):c.372-2A>G
|
rs483352896
|
0.00002
|
|
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
|
rs774990357
|
0.00002
|
|
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
|
rs1303093971
|
0.00002
|
|
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr)
|
rs773638310
|
0.00002
|
|
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
|
rs1187482453
|
0.00002
|
|
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
|
rs371569367
|
0.00002
|
|
NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu)
|
rs199904313
|
0.00002
|
|
NM_152542.5(PPM1K):c.582A>G (p.Leu194=)
|
rs758129828
|
0.00002
|
|
NM_152542.5(PPM1K):c.600A>G (p.Glu200=)
|
rs755062947
|
0.00002
|
|
NM_153006.3(NAGS):c.1139T>A (p.Val380Glu)
|
rs749187900
|
0.00002
|
|
NM_153006.3(NAGS):c.1275C>T (p.Asn425=)
|
rs758320949
|
0.00002
|
|
NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu)
|
rs748372797
|
0.00002
|
|
NM_153006.3(NAGS):c.350C>T (p.Pro117Leu)
|
rs767257841
|
0.00002
|
|
NM_153006.3(NAGS):c.417C>T (p.Ala139=)
|
rs776301293
|
0.00002
|
|
NM_153006.3(NAGS):c.505A>T (p.Met169Leu)
|
rs569174201
|
0.00002
|
|
NM_153006.3(NAGS):c.572A>G (p.Glu191Gly)
|
rs778797257
|
0.00002
|
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
|
NM_153006.3(NAGS):c.834C>T (p.Thr278=)
|
rs1355724687
|
0.00002
|
|
NM_153006.3(NAGS):c.852G>A (p.Ala284=)
|
rs781691544
|
0.00002
|
|
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
|
rs552250080
|
0.00002
|
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
|
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
|
rs1209585004
|
0.00002
|
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
|
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
|
rs571797666
|
0.00002
|
|
NM_172250.3(MMAA):c.970-6C>T
|
rs774402841
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1037G>T (p.Trp346Leu)
|
rs746999375
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1055+15C>A
|
rs764186836
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1127A>G (p.Lys376Arg)
|
rs370020005
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1179C>T (p.Pro393=)
|
rs755751249
|
0.00002
|
|
NM_177550.5(SLC13A5):c.120C>T (p.Tyr40=)
|
rs529673803
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1275+7T>C
|
rs537439213
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1330C>T (p.Pro444Ser)
|
rs765709852
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1420C>T (p.Pro474Ser)
|
rs777285678
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1438-20G>A
|
rs1329698702
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1438-4G>A
|
rs901014442
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1447A>G (p.Ile483Val)
|
rs143719876
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1591A>G (p.Ile531Val)
|
rs753629596
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1628C>A (p.Ala543Asp)
|
rs202208840
|
0.00002
|
|
NM_177550.5(SLC13A5):c.1673C>T (p.Pro558Leu)
|
rs769020153
|
0.00002
|
|
NM_177550.5(SLC13A5):c.227G>A (p.Arg76Lys)
|
rs778196660
|
0.00002
|
|
NM_177550.5(SLC13A5):c.232-15C>T
|
rs199904860
|
0.00002
|
|
NM_177550.5(SLC13A5):c.313C>T (p.Leu105=)
|
rs765334582
|
0.00002
|
|
NM_177550.5(SLC13A5):c.368+8C>T
|
rs754086132
|
0.00002
|
|
NM_177550.5(SLC13A5):c.368G>A (p.Arg123Gln)
|
rs530676026
|
0.00002
|
|
NM_177550.5(SLC13A5):c.390C>T (p.Gly130=)
|
rs371499002
|
0.00002
|
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
|
NM_177550.5(SLC13A5):c.446T>C (p.Val149Ala)
|
rs761377416
|
0.00002
|
|
NM_177550.5(SLC13A5):c.471G>A (p.Gln157=)
|
rs367895721
|
0.00002
|
|
NM_177550.5(SLC13A5):c.497C>A (p.Thr166Asn)
|
rs758852137
|
0.00002
|
|
NM_177550.5(SLC13A5):c.675C>T (p.Thr225=)
|
rs766223341
|
0.00002
|
|
NM_177550.5(SLC13A5):c.744G>C (p.Val248=)
|
rs755035537
|
0.00002
|
|
NM_177550.5(SLC13A5):c.771C>T (p.Ala257=)
|
rs1042746956
|
0.00002
|
|
NM_177550.5(SLC13A5):c.802G>A (p.Ala268Thr)
|
rs777184227
|
0.00002
|
|
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)
|
rs398124561
|
0.00002
|
|
NM_183050.4(BCKDHB):c.1087T>A (p.Tyr363Asn)
|
rs398124565
|
0.00002
|
|
NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)
|
rs371131253
|
0.00002
|
|
NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)
|
rs1464497822
|
0.00002
|
|
NM_183050.4(BCKDHB):c.449C>T (p.Ala150Val)
|
rs867033248
|
0.00002
|
|
NM_183050.4(BCKDHB):c.714T>C (p.Phe238=)
|
rs774640066
|
0.00002
|
|
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)
|
rs537988425
|
0.00002
|
|
NM_183050.4(BCKDHB):c.789C>T (p.Ala263=)
|
rs145150150
|
0.00002
|
|
NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)
|
rs763434607
|
0.00002
|
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
|
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter)
|
rs778627080
|
0.00002
|
|
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)
|
rs763122264
|
0.00002
|
|
NM_201253.3(CRB1):c.1171+6G>A
|
rs770160426
|
0.00002
|
|
NM_201253.3(CRB1):c.1191C>T (p.Asp397=)
|
rs758897056
|
0.00002
|
|
NM_201253.3(CRB1):c.1299T>C (p.Tyr433=)
|
rs1032057202
|
0.00002
|
|
NM_201253.3(CRB1):c.1350T>C (p.Cys450=)
|
rs1199282651
|
0.00002
|
|
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser)
|
rs62636265
|
0.00002
|
|
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)
|
rs372844443
|
0.00002
|
|
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys)
|
rs1389085632
|
0.00002
|
|
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala)
|
rs917528638
|
0.00002
|
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
|
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)
|
rs267598278
|
0.00002
|
|
NM_201253.3(CRB1):c.1974C>T (p.Ile658=)
|
rs756559532
|
0.00002
|
|
NM_201253.3(CRB1):c.2010T>C (p.Cys670=)
|
rs201949837
|
0.00002
|
|
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys)
|
rs371557082
|
0.00002
|
|
NM_201253.3(CRB1):c.208A>G (p.Met70Val)
|
rs771462053
|
0.00002
|
|
NM_201253.3(CRB1):c.2118C>T (p.Asn706=)
|
rs775275370
|
0.00002
|
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
|
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg)
|
rs1474289008
|
0.00002
|
|
NM_201253.3(CRB1):c.234C>T (p.Pro78=)
|
rs1216212132
|
0.00002
|
|
NM_201253.3(CRB1):c.2637C>G (p.Val879=)
|
rs150464955
|
0.00002
|
|
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys)
|
rs776426313
|
0.00002
|
|
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala)
|
rs531305918
|
0.00002
|
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
|
NM_201253.3(CRB1):c.2901G>T (p.Gly967=)
|
rs773815247
|
0.00002
|
|
NM_201253.3(CRB1):c.3276C>A (p.Gly1092=)
|
rs550408313
|
0.00002
|
|
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu)
|
rs751213257
|
0.00002
|
|
NM_201253.3(CRB1):c.3381A>G (p.Lys1127=)
|
rs1327880181
|
0.00002
|
|
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe)
|
rs768713412
|
0.00002
|
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
|
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val)
|
rs766592082
|
0.00002
|
|
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr)
|
rs754575460
|
0.00002
|
|
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)
|
rs760544654
|
0.00002
|
|
NM_201253.3(CRB1):c.4002G>A (p.Val1334=)
|
rs752417635
|
0.00002
|
|
NM_201253.3(CRB1):c.4005+10C>T
|
rs531187198
|
0.00002
|
|
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn)
|
rs1316048135
|
0.00002
|
|
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)
|
rs760100325
|
0.00002
|
|
NM_201253.3(CRB1):c.4125T>C (p.Thr1375=)
|
rs1459964782
|
0.00002
|
|
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp)
|
rs150314336
|
0.00002
|
|
NM_201253.3(CRB1):c.54G>A (p.Leu18=)
|
rs769695428
|
0.00002
|
|
NM_201253.3(CRB1):c.591C>T (p.Asn197=)
|
rs770973303
|
0.00002
|
|
NM_201253.3(CRB1):c.768G>T (p.Gly256=)
|
rs776142561
|
0.00002
|
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
|
NM_201253.3(CRB1):c.939T>C (p.Asn313=)
|
rs1410405020
|
0.00002
|
|
NM_205861.3(DHDDS):c.181-9C>T
|
rs754405782
|
0.00002
|
|
NM_205861.3(DHDDS):c.307C>T (p.Arg103Cys)
|
rs762393542
|
0.00002
|
|
NM_205861.3(DHDDS):c.590C>G (p.Ser197Cys)
|
rs772379835
|
0.00002
|
|
NM_205861.3(DHDDS):c.756C>T (p.Ser252=)
|
rs565600867
|
0.00002
|
|
NM_205861.3(DHDDS):c.909G>A (p.Ser303=)
|
rs376517028
|
0.00002
|
|
NM_205861.3(DHDDS):c.916C>T (p.Arg306Trp)
|
rs139109356
|
0.00002
|
|
NM_205861.3(DHDDS):c.919G>C (p.Glu307Gln)
|
rs762740714
|
0.00002
|
|
NC_000022.11:g.40345462C>T
|
rs925724663
|
0.00001
|
|
NC_000022.11:g.40345597G>A
|
rs1470349903
|
0.00001
|
|
NC_000022.11:g.40345624A>C
|
rs1178062153
|
0.00001
|
|
NC_000022.11:g.40345643T>C
|
rs1018230570
|
0.00001
|
|
NC_000022.11:g.40345669C>T
|
rs1386791712
|
0.00001
|
|
NC_000022.11:g.40345705A>T
|
rs968250682
|
0.00001
|
|
NC_000022.11:g.40345709C>A
|
rs1170425980
|
0.00001
|
|
NC_000022.11:g.40345764G>A
|
rs2044113487
|
0.00001
|
|
NC_000022.11:g.40345770A>G
|
rs1410879144
|
0.00001
|
|
NC_000022.11:g.40345855C>G
|
rs1307229331
|
0.00001
|
|
NC_000022.11:g.40345885C>G
|
rs868152963
|
0.00001
|
|
NC_000022.11:g.40345919C>T
|
rs1316024893
|
0.00001
|
|
NC_000022.11:g.40345927G>A
|
rs1197880670
|
0.00001
|
|
NC_000022.11:g.40345933T>C
|
rs1273326006
|
0.00001
|
|
NC_000022.11:g.40345934G>A
|
rs1428135725
|
0.00001
|
|
NC_000022.11:g.40345997G>A
|
rs376903282
|
0.00001
|
|
NC_000022.11:g.40346004G>A
|
rs1010283787
|
0.00001
|
|
NC_000022.11:g.40346022C>A
|
rs1465603644
|
0.00001
|
|
NC_000022.11:g.40346188G>C
|
rs1399154446
|
0.00001
|
|
NC_000022.11:g.40346269G>A
|
rs1258655937
|
0.00001
|
|
NC_000022.11:g.40346305G>A
|
rs1039907516
|
0.00001
|
|
NC_000022.11:g.40346353G>A
|
rs1273594576
|
0.00001
|
|
NC_000022.11:g.40346360G>A
|
rs1379918231
|
0.00001
|
|
NC_000022.11:g.40346377A>C
|
rs749450413
|
0.00001
|
|
NC_000022.11:g.40346386T>A
|
rs1469357773
|
0.00001
|
|
NC_000022.11:g.40346400C>A
|
rs376911964
|
0.00001
|
|
NC_000022.11:g.40346418G>C
|
rs986851841
|
0.00001
|
|
NC_000022.11:g.40346443C>G
|
rs1325872618
|
0.00001
|
|
NC_000022.11:g.40346456C>G
|
rs533768359
|
0.00001
|
|
NC_000022.11:g.40346489C>G
|
rs949660803
|
0.00001
|
|
NC_000022.11:g.40346493G>A
|
rs558397990
|
0.00001
|
|
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter)
|
rs796051896
|
0.00001
|
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
|
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln)
|
rs760335676
|
0.00001
|
|
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile)
|
rs766140986
|
0.00001
|
|
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys)
|
rs1227800781
|
0.00001
|
|
NM_000016.6(ACADM):c.1077A>G (p.Ala359=)
|
rs373828881
|
0.00001
|
|
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu)
|
rs150310121
|
0.00001
|
|
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val)
|
rs758973773
|
0.00001
|
|
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp)
|
rs781424858
|
0.00001
|
|
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr)
|
rs121434275
|
0.00001
|
|
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter)
|
rs748110745
|
0.00001
|
|
NM_000016.6(ACADM):c.1167A>G (p.Lys389=)
|
rs1426726206
|
0.00001
|
|
NM_000016.6(ACADM):c.1194+1G>A
|
rs769331400
|
0.00001
|
|
NM_000016.6(ACADM):c.1194+3A>G
|
rs369945009
|
0.00001
|
|
NM_000016.6(ACADM):c.1194+9A>G
|
rs1570910495
|
0.00001
|
|
NM_000016.6(ACADM):c.1206T>C (p.Gly402=)
|
rs775020164
|
0.00001
|
|
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val)
|
rs1181589709
|
0.00001
|
|
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys)
|
rs139686925
|
0.00001
|
|
NM_000016.6(ACADM):c.1238G>A (p.Arg413His)
|
rs1337929727
|
0.00001
|
|
NM_000016.6(ACADM):c.1239T>C (p.Arg413=)
|
rs767921195
|
0.00001
|
|
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter)
|
rs753928772
|
0.00001
|
|
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)
|
rs759997176
|
0.00001
|
|
NM_000016.6(ACADM):c.126C>T (p.Thr42=)
|
rs765625793
|
0.00001
|
|
NM_000016.6(ACADM):c.171A>G (p.Arg57=)
|
rs1419381234
|
0.00001
|
|
NM_000016.6(ACADM):c.195A>C (p.Ala65=)
|
rs771649282
|
0.00001
|
|
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile)
|
rs927784210
|
0.00001
|
|
NM_000016.6(ACADM):c.216+2T>C
|
rs398123073
|
0.00001
|
|
NM_000016.6(ACADM):c.216+7A>G
|
rs1469967408
|
0.00001
|
|
NM_000016.6(ACADM):c.21A>G (p.Arg7=)
|
rs906559903
|
0.00001
|
|
NM_000016.6(ACADM):c.229C>T (p.Leu77=)
|
rs749859620
|
0.00001
|
|
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys)
|
rs398123075
|
0.00001
|
|
NM_000016.6(ACADM):c.271_273del (p.Ile91del)
|
rs1463718964
|
0.00001
|
|
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys)
|
rs752612962
|
0.00001
|
|
NM_000016.6(ACADM):c.287-6C>T
|
rs771099349
|
0.00001
|
|
NM_000016.6(ACADM):c.287-7dup
|
rs886042084
|
0.00001
|
|
NM_000016.6(ACADM):c.296G>T (p.Gly99Val)
|
rs370608001
|
0.00001
|
|
NM_000016.6(ACADM):c.30+2T>C
|
rs768596219
|
0.00001
|
|
NM_000016.6(ACADM):c.30+4A>G
|
rs774531501
|
0.00001
|
|
NM_000016.6(ACADM):c.30+8G>A
|
rs760526492
|
0.00001
|
|
NM_000016.6(ACADM):c.31-5T>C
|
rs756654520
|
0.00001
|
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
|
NM_000016.6(ACADM):c.34C>T (p.Leu12=)
|
rs562722132
|
0.00001
|
|
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)
|
rs121434283
|
0.00001
|
|
NM_000016.6(ACADM):c.363T>C (p.Thr121=)
|
rs766081723
|
0.00001
|
|
NM_000016.6(ACADM):c.382T>C (p.Leu128=)
|
rs764651997
|
0.00001
|
|
NM_000016.6(ACADM):c.388-6C>T
|
rs776623274
|
0.00001
|
|
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg)
|
rs875989854
|
0.00001
|
|
NM_000016.6(ACADM):c.402T>A (p.Ile134=)
|
rs757821130
|
0.00001
|
|
NM_000016.6(ACADM):c.447G>A (p.Met149Ile)
|
rs121434277
|
0.00001
|
|
NM_000016.6(ACADM):c.447G>T (p.Met149Ile)
|
rs121434277
|
0.00001
|
|
NM_000016.6(ACADM):c.464T>C (p.Met155Thr)
|
rs875989876
|
0.00001
|
|
NM_000016.6(ACADM):c.469-4C>G
|
rs1244966116
|
0.00001
|
|
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala)
|
rs745844469
|
0.00001
|
|
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser)
|
rs1647480996
|
0.00001
|
|
NM_000016.6(ACADM):c.56A>G (p.His19Arg)
|
rs1446893994
|
0.00001
|
|
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser)
|
rs1010454733
|
0.00001
|
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
|
NM_000016.6(ACADM):c.599+2T>C
|
rs148260275
|
0.00001
|
|
NM_000016.6(ACADM):c.599+5G>A
|
rs875989861
|
0.00001
|
|
NM_000016.6(ACADM):c.600-6T>C
|
rs771343450
|
0.00001
|
|
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe)
|
rs751829413
|
0.00001
|
|
NM_000016.6(ACADM):c.610T>C (p.Leu204=)
|
rs776993753
|
0.00001
|
|
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys)
|
rs373715782
|
0.00001
|
|
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile)
|
rs766249735
|
0.00001
|
|
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg)
|
rs753627680
|
0.00001
|
|
NM_000016.6(ACADM):c.667A>G (p.Ile223Val)
|
rs747783631
|
0.00001
|
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
|
NM_000016.6(ACADM):c.705A>G (p.Arg235=)
|
rs1647874596
|
0.00001
|
|
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn)
|
rs1185026485
|
0.00001
|
|
NM_000016.6(ACADM):c.709-1G>A
|
rs941714381
|
0.00001
|
|
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys)
|
rs1348176225
|
0.00001
|
|
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter)
|
rs1462279583
|
0.00001
|
|
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln)
|
rs373852490
|
0.00001
|
|
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu)
|
rs121434281
|
0.00001
|
|
NM_000016.6(ACADM):c.756C>T (p.Phe252=)
|
rs749692458
|
0.00001
|
|
NM_000016.6(ACADM):c.771G>A (p.Val257=)
|
rs762143899
|
0.00001
|
|
NM_000016.6(ACADM):c.849+2T>C
|
rs780737237
|
0.00001
|
|
NM_000016.6(ACADM):c.850-2A>G
|
rs761317029
|
0.00001
|
|
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter)
|
rs745793409
|
0.00001
|
|
NM_000016.6(ACADM):c.90A>G (p.Gln30=)
|
rs1047139742
|
0.00001
|
|
NM_000016.6(ACADM):c.92G>A (p.Arg31His)
|
rs529894272
|
0.00001
|
|
NM_000016.6(ACADM):c.936A>T (p.Leu312=)
|
rs770989035
|
0.00001
|
|
NM_000016.6(ACADM):c.946-2A>C
|
rs758753966
|
0.00001
|
|
NM_000016.6(ACADM):c.981A>C (p.Ala327=)
|
rs951841268
|
0.00001
|
|
NM_000017.4(ACADS):c.1011C>G (p.Asn337Lys)
|
rs200346345
|
0.00001
|
|
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly)
|
rs387906950
|
0.00001
|
|
NM_000017.4(ACADS):c.1071C>T (p.Thr357=)
|
rs759011410
|
0.00001
|
|
NM_000017.4(ACADS):c.1078A>G (p.Ser360Gly)
|
rs528266975
|
0.00001
|
|
NM_000017.4(ACADS):c.107dup (p.Thr37fs)
|
rs750941135
|
0.00001
|
|
NM_000017.4(ACADS):c.1117G>A (p.Val373Met)
|
rs371934737
|
0.00001
|
|
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu)
|
rs183161718
|
0.00001
|
|
NM_000017.4(ACADS):c.1135G>C (p.Glu379Gln)
|
rs953436518
|
0.00001
|
|
NM_000017.4(ACADS):c.1169T>A (p.Ile390Asn)
|
rs773646063
|
0.00001
|
|
NM_000017.4(ACADS):c.1173C>T (p.Tyr391=)
|
rs766657084
|
0.00001
|
|
NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr)
|
rs556890619
|
0.00001
|
|
NM_000017.4(ACADS):c.137G>A (p.Arg46Gln)
|
rs758012734
|
0.00001
|
|
NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)
|
rs147442301
|
0.00001
|
|
NM_000017.4(ACADS):c.1A>G (p.Met1Val)
|
rs1291226969
|
0.00001
|
|
NM_000017.4(ACADS):c.242C>T (p.Ala81Val)
|
rs1883464095
|
0.00001
|
|
NM_000017.4(ACADS):c.268G>A (p.Gly90Ser)
|
rs121908005
|
0.00001
|
|
NM_000017.4(ACADS):c.304A>G (p.Met102Val)
|
rs766216232
|
0.00001
|
|
NM_000017.4(ACADS):c.322G>A (p.Gly108Ser)
|
rs117356004
|
0.00001
|
|
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer)
|
rs1346829948
|
0.00001
|
|
NM_000017.4(ACADS):c.332C>T (p.Ser111Phe)
|
rs747339462
|
0.00001
|
|
NM_000017.4(ACADS):c.337G>A (p.Gly113Arg)
|
rs781528570
|
0.00001
|
|
NM_000017.4(ACADS):c.422C>T (p.Thr141Met)
|
rs767874760
|
0.00001
|
|
NM_000017.4(ACADS):c.425C>G (p.Pro142Arg)
|
rs148297461
|
0.00001
|
|
NM_000017.4(ACADS):c.449G>T (p.Gly150Val)
|
rs1057524803
|
0.00001
|
|
NM_000017.4(ACADS):c.46+8C>A
|
rs758929346
|
0.00001
|
|
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe)
|
rs368500899
|
0.00001
|
|
NM_000017.4(ACADS):c.466G>A (p.Glu156Lys)
|
rs1883492972
|
0.00001
|
|
NM_000017.4(ACADS):c.473-9T>G
|
rs751507296
|
0.00001
|
|
NM_000017.4(ACADS):c.477C>T (p.Asn159=)
|
rs747915680
|
0.00001
|
|
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly)
|
rs755856935
|
0.00001
|
|
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu)
|
rs369167716
|
0.00001
|
|
NM_000017.4(ACADS):c.596C>T (p.Ala199Val)
|
rs766579880
|
0.00001
|
|
NM_000017.4(ACADS):c.602C>T (p.Thr201Met)
|
rs151059234
|
0.00001
|
|
NM_000017.4(ACADS):c.625-1G>A
|
rs1452314438
|
0.00001
|
|
NM_000017.4(ACADS):c.625-7C>T
|
rs748174528
|
0.00001
|
|
NM_000017.4(ACADS):c.65G>T (p.Trp22Leu)
|
rs774970155
|
0.00001
|
|
NM_000017.4(ACADS):c.673G>C (p.Gly225Arg)
|
rs1181743442
|
0.00001
|
|
NM_000017.4(ACADS):c.682G>A (p.Glu228Lys)
|
rs755247580
|
0.00001
|
|
NM_000017.4(ACADS):c.68G>A (p.Arg23Gln)
|
rs773600043
|
0.00001
|
|
NM_000017.4(ACADS):c.703G>C (p.Gly235Arg)
|
rs770711544
|
0.00001
|
|
NM_000017.4(ACADS):c.739C>T (p.Arg247Cys)
|
rs760389122
|
0.00001
|
|
NM_000017.4(ACADS):c.801C>A (p.Thr267=)
|
rs746750876
|
0.00001
|
|
NM_000017.4(ACADS):c.812G>T (p.Gly271Val)
|
rs796051902
|
0.00001
|
|
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser)
|
rs746368198
|
0.00001
|
|
NM_000017.4(ACADS):c.821G>A (p.Gly274Asp)
|
rs772531600
|
0.00001
|
|
NM_000017.4(ACADS):c.842G>C (p.Gly281Ala)
|
rs762083095
|
0.00001
|
|
NM_000017.4(ACADS):c.889C>T (p.Arg297Cys)
|
rs747512252
|
0.00001
|
|
NM_000017.4(ACADS):c.934-11G>A
|
rs753547944
|
0.00001
|
|
NM_000017.4(ACADS):c.937A>G (p.Lys313Glu)
|
rs1233243754
|
0.00001
|
|
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser)
|
rs777939247
|
0.00001
|
|
NM_000017.4(ACADS):c.981G>C (p.Leu327=)
|
rs1214493869
|
0.00001
|
|
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val)
|
rs1487767890
|
0.00001
|
|
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)
|
rs398123079
|
0.00001
|
|
NM_000018.4(ACADVL):c.100G>A (p.Gly34Ser)
|
rs781061205
|
0.00001
|
|
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)
|
rs956279629
|
0.00001
|
|
NM_000018.4(ACADVL):c.1037C>T (p.Ala346Val)
|
rs1303150138
|
0.00001
|
|
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)
|
rs1567565733
|
0.00001
|
|
NM_000018.4(ACADVL):c.1050T>C (p.Gly350=)
|
rs752314368
|
0.00001
|
|
NM_000018.4(ACADVL):c.1052C>A (p.Thr351Asn)
|
rs796051911
|
0.00001
|
|
NM_000018.4(ACADVL):c.1063A>G (p.Ile355Val)
|
rs2071297089
|
0.00001
|
|
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)
|
rs1351976589
|
0.00001
|
|
NM_000018.4(ACADVL):c.1067T>C (p.Ile356Thr)
|
rs2071297392
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
|
NM_000018.4(ACADVL):c.1077+8C>T
|
rs938844412
|
0.00001
|
|
NM_000018.4(ACADVL):c.1079T>C (p.Val360Ala)
|
rs1284063777
|
0.00001
|
|
NM_000018.4(ACADVL):c.1083T>C (p.Asp361=)
|
rs770917473
|
0.00001
|
|
NM_000018.4(ACADVL):c.1089C>A (p.Ala363=)
|
rs774273664
|
0.00001
|
|
NM_000018.4(ACADVL):c.1101C>T (p.Thr367=)
|
rs1179669157
|
0.00001
|
|
NM_000018.4(ACADVL):c.111G>A (p.Arg37=)
|
rs755803798
|
0.00001
|
|
NM_000018.4(ACADVL):c.1125C>T (p.Asn375=)
|
rs1349423150
|
0.00001
|
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
|
NM_000018.4(ACADVL):c.1133T>C (p.Leu378Pro)
|
rs2071314177
|
0.00001
|
|
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)
|
rs1057523504
|
0.00001
|
|
NM_000018.4(ACADVL):c.1159G>A (p.Val387Ile)
|
rs1422904205
|
0.00001
|
|
NM_000018.4(ACADVL):c.117C>T (p.Pro39=)
|
rs370883584
|
0.00001
|
|
NM_000018.4(ACADVL):c.1182+3G>T
|
rs376281637
|
0.00001
|
|
NM_000018.4(ACADVL):c.1183-15A>G
|
rs765390290
|
0.00001
|
|
NM_000018.4(ACADVL):c.1183-6C>T
|
rs1184450028
|
0.00001
|
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
|
NM_000018.4(ACADVL):c.123C>T (p.Ala41=)
|
rs778217628
|
0.00001
|
|
NM_000018.4(ACADVL):c.1245C>T (p.Ala415=)
|
rs1481416358
|
0.00001
|
|
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)
|
rs1451455641
|
0.00001
|
|
NM_000018.4(ACADVL):c.1269+18C>G
|
rs1567567226
|
0.00001
|
|
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)
|
rs765356942
|
0.00001
|
|
NM_000018.4(ACADVL):c.1302C>A (p.Ile434=)
|
rs1469316904
|
0.00001
|
|
NM_000018.4(ACADVL):c.130G>A (p.Ala44Thr)
|
rs573810960
|
0.00001
|
|
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)
|
rs533055438
|
0.00001
|
|
NM_000018.4(ACADVL):c.132C>G (p.Ala44=)
|
rs1237892223
|
0.00001
|
|
NM_000018.4(ACADVL):c.1332+9C>T
|
rs376427620
|
0.00001
|
|
NM_000018.4(ACADVL):c.1333-4C>T
|
rs1393726040
|
0.00001
|
|
NM_000018.4(ACADVL):c.1333-7G>T
|
rs1228196483
|
0.00001
|
|
NM_000018.4(ACADVL):c.1341A>G (p.Gly447=)
|
rs1484763411
|
0.00001
|
|
NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)
|
rs398123081
|
0.00001
|
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
|
NM_000018.4(ACADVL):c.134C>T (p.Ala45Val)
|
rs2071124062
|
0.00001
|
|
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)
|
rs794727113
|
0.00001
|
|
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)
|
rs1419606204
|
0.00001
|
|
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)
|
rs1175359422
|
0.00001
|
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
|
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)
|
rs766742117
|
0.00001
|
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
|
NM_000018.4(ACADVL):c.138+2T>C
|
rs1057516817
|
0.00001
|
|
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)
|
rs200366828
|
0.00001
|
|
NM_000018.4(ACADVL):c.139-10C>T
|
rs747439748
|
0.00001
|
|
NM_000018.4(ACADVL):c.1399A>G (p.Ile467Val)
|
rs755685700
|
0.00001
|
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
|
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)
|
rs398123083
|
0.00001
|
|
NM_000018.4(ACADVL):c.1408C>T (p.Leu470=)
|
rs1335872701
|
0.00001
|
|
NM_000018.4(ACADVL):c.1410G>A (p.Leu470=)
|
rs1281251073
|
0.00001
|
|
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro)
|
rs759775666
|
0.00001
|
|
NM_000018.4(ACADVL):c.1494T>G (p.Ala498=)
|
rs756867868
|
0.00001
|
|
NM_000018.4(ACADVL):c.1515A>C (p.Ala505=)
|
rs781153542
|
0.00001
|
|
NM_000018.4(ACADVL):c.1524G>C (p.Gln508His)
|
rs749332311
|
0.00001
|
|
NM_000018.4(ACADVL):c.1532+10G>C
|
rs775913504
|
0.00001
|
|
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)
|
rs200771970
|
0.00001
|
|
NM_000018.4(ACADVL):c.1533-2A>C
|
rs996348255
|
0.00001
|
|
NM_000018.4(ACADVL):c.1533-3C>A
|
rs1486836969
|
0.00001
|
|
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)
|
rs371316167
|
0.00001
|
|
NM_000018.4(ACADVL):c.1535G>A (p.Arg512Gln)
|
rs1363658463
|
0.00001
|
|
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)
|
rs370282954
|
0.00001
|
|
NM_000018.4(ACADVL):c.1551C>T (p.Ser517=)
|
rs926496616
|
0.00001
|
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
|
NM_000018.4(ACADVL):c.1569A>G (p.Gly523=)
|
rs779048354
|
0.00001
|
|
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)
|
rs745996278
|
0.00001
|
|
NM_000018.4(ACADVL):c.1595G>A (p.Ser532Asn)
|
rs1453818885
|
0.00001
|
|
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)
|
rs779770406
|
0.00001
|
|
NM_000018.4(ACADVL):c.1605+3A>G
|
rs759274087
|
0.00001
|
|
NM_000018.4(ACADVL):c.1612C>T (p.Arg538Trp)
|
rs192904909
|
0.00001
|
|
NM_000018.4(ACADVL):c.1621G>A (p.Glu541Lys)
|
rs1350421513
|
0.00001
|
|
NM_000018.4(ACADVL):c.1664A>G (p.Lys555Arg)
|
rs1231882461
|
0.00001
|
|
NM_000018.4(ACADVL):c.1670G>A (p.Gly557Glu)
|
rs773842959
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+16A>G
|
rs768350660
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+4A>T
|
rs1057518417
|
0.00001
|
|
NM_000018.4(ACADVL):c.1678+9G>A
|
rs775156404
|
0.00001
|
|
NM_000018.4(ACADVL):c.1684C>G (p.Gln562Glu)
|
rs370292684
|
0.00001
|
|
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)
|
rs1085307648
|
0.00001
|
|
NM_000018.4(ACADVL):c.1751+7A>T
|
rs1438741226
|
0.00001
|
|
NM_000018.4(ACADVL):c.179T>G (p.Leu60Arg)
|
rs1405660468
|
0.00001
|
|
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs)
|
rs1555529088
|
0.00001
|
|
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)
|
rs200117742
|
0.00001
|
|
NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)
|
rs398123086
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+10G>A
|
rs766755156
|
0.00001
|
|
NM_000018.4(ACADVL):c.1827+9C>T
|
rs372630480
|
0.00001
|
|
NM_000018.4(ACADVL):c.1829C>T (p.Ala610Val)
|
rs1179668719
|
0.00001
|
|
NM_000018.4(ACADVL):c.1848G>A (p.Glu616=)
|
rs372886650
|
0.00001
|
|
NM_000018.4(ACADVL):c.1893C>T (p.Tyr631=)
|
rs780006187
|
0.00001
|
|
NM_000018.4(ACADVL):c.1913C>T (p.Ser638Phe)
|
rs1210477732
|
0.00001
|
|
NM_000018.4(ACADVL):c.1929G>C (p.Glu643Asp)
|
rs1208010882
|
0.00001
|
|
NM_000018.4(ACADVL):c.1964T>A (p.Phe655Tyr)
|
rs377659973
|
0.00001
|
|
NM_000018.4(ACADVL):c.201G>A (p.Lys67=)
|
rs753577095
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+15G>A
|
rs1404625751
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+16G>A
|
rs780773899
|
0.00001
|
|
NM_000018.4(ACADVL):c.204+4G>C
|
rs764767909
|
0.00001
|
|
NM_000018.4(ACADVL):c.205-15C>T
|
rs1567560898
|
0.00001
|
|
NM_000018.4(ACADVL):c.216C>T (p.Ser72=)
|
rs761492981
|
0.00001
|
|
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)
|
rs750043368
|
0.00001
|
|
NM_000018.4(ACADVL):c.253dup (p.Asp85fs)
|
rs1247360325
|
0.00001
|
|
NM_000018.4(ACADVL):c.270C>T (p.Tyr90=)
|
rs749482177
|
0.00001
|
|
NM_000018.4(ACADVL):c.277+7G>C
|
rs1405587459
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-5T>C
|
rs780118841
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-6C>T
|
rs1008843538
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-7T>C
|
rs758471890
|
0.00001
|
|
NM_000018.4(ACADVL):c.278-8C>T
|
rs1178133251
|
0.00001
|
|
NM_000018.4(ACADVL):c.279G>A (p.Val93=)
|
rs748048602
|
0.00001
|
|
NM_000018.4(ACADVL):c.285C>T (p.Asn95=)
|
rs769723013
|
0.00001
|
|
NM_000018.4(ACADVL):c.301T>C (p.Phe101Leu)
|
rs759197049
|
0.00001
|
|
NM_000018.4(ACADVL):c.322C>G (p.Pro108Ala)
|
rs886043235
|
0.00001
|
|
NM_000018.4(ACADVL):c.331C>T (p.Arg111Cys)
|
rs370929055
|
0.00001
|
|
NM_000018.4(ACADVL):c.332G>A (p.Arg111His)
|
rs958166043
|
0.00001
|
|
NM_000018.4(ACADVL):c.339C>T (p.Phe113=)
|
rs750653177
|
0.00001
|
|
NM_000018.4(ACADVL):c.33G>A (p.Gly11=)
|
rs975427927
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+10G>T
|
rs1226688830
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+16G>C
|
rs536497611
|
0.00001
|
|
NM_000018.4(ACADVL):c.342+18G>A
|
rs372594520
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-13G>A
|
rs1250954751
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-19G>A
|
rs2090623176
|
0.00001
|
|
NM_000018.4(ACADVL):c.343-1G>A
|
rs1555527877
|
0.00001
|
|
NM_000018.4(ACADVL):c.34C>T (p.Arg12Trp)
|
rs769290349
|
0.00001
|
|
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)
|
rs1057520088
|
0.00001
|
|
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)
|
rs1416443472
|
0.00001
|
|
NM_000018.4(ACADVL):c.381G>A (p.Met127Ile)
|
rs773608087
|
0.00001
|
|
NM_000018.4(ACADVL):c.385G>A (p.Glu129Lys)
|
rs1402849815
|
0.00001
|
|
NM_000018.4(ACADVL):c.393C>G (p.Thr131=)
|
rs754931255
|
0.00001
|
|
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)
|
rs1460246415
|
0.00001
|
|
NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys)
|
rs794727773
|
0.00001
|
|
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)
|
rs1458941582
|
0.00001
|
|
NM_000018.4(ACADVL):c.432G>C (p.Leu144=)
|
rs778968978
|
0.00001
|
|
NM_000018.4(ACADVL):c.456T>C (p.Gly152=)
|
rs1009994523
|
0.00001
|
|
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg)
|
rs746688190
|
0.00001
|
|
NM_000018.4(ACADVL):c.477+14A>G
|
rs1483410961
|
0.00001
|
|
NM_000018.4(ACADVL):c.477+14_477+16del
|
rs767953226
|
0.00001
|
|
NM_000018.4(ACADVL):c.480C>T (p.Tyr160=)
|
rs371910495
|
0.00001
|
|
NM_000018.4(ACADVL):c.483C>A (p.Ala161=)
|
rs573137772
|
0.00001
|
|
NM_000018.4(ACADVL):c.484C>T (p.Arg162Cys)
|
rs751423064
|
0.00001
|
|
NM_000018.4(ACADVL):c.490G>C (p.Val164Leu)
|
rs1240846419
|
0.00001
|
|
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)
|
rs1057516369
|
0.00001
|
|
NM_000018.4(ACADVL):c.505A>G (p.Met169Val)
|
rs2071227343
|
0.00001
|
|
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)
|
rs376733533
|
0.00001
|
|
NM_000018.4(ACADVL):c.531C>T (p.Thr177=)
|
rs2071228805
|
0.00001
|
|
NM_000018.4(ACADVL):c.532C>T (p.Leu178=)
|
rs376092908
|
0.00001
|
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
|
NM_000018.4(ACADVL):c.54G>A (p.Gly18=)
|
rs759918601
|
0.00001
|
|
NM_000018.4(ACADVL):c.552C>T (p.Ile184=)
|
rs770961747
|
0.00001
|
|
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)
|
rs545215807
|
0.00001
|
|
NM_000018.4(ACADVL):c.576T>C (p.Phe192=)
|
rs760355468
|
0.00001
|
|
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)
|
rs763630981
|
0.00001
|
|
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)
|
rs371407903
|
0.00001
|
|
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)
|
rs398123090
|
0.00001
|
|
NM_000018.4(ACADVL):c.613C>G (p.Leu205Val)
|
rs747347662
|
0.00001
|
|
NM_000018.4(ACADVL):c.62+20G>A
|
rs369163211
|
0.00001
|
|
NM_000018.4(ACADVL):c.622+20G>T
|
rs2071236387
|
0.00001
|
|
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)
|
rs748329498
|
0.00001
|
|
NM_000018.4(ACADVL):c.623-10T>C
|
rs1021636784
|
0.00001
|
|
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro)
|
rs775400380
|
0.00001
|
|
NM_000018.4(ACADVL):c.63-18A>G
|
rs1481782237
|
0.00001
|
|
NM_000018.4(ACADVL):c.63-2A>C
|
rs1555527513
|
0.00001
|
|
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)
|
rs140629318
|
0.00001
|
|
NM_000018.4(ACADVL):c.651C>T (p.Thr217=)
|
rs764913196
|
0.00001
|
|
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)
|
rs746860401
|
0.00001
|
|
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)
|
rs772898391
|
0.00001
|
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
|
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)
|
rs398123091
|
0.00001
|
|
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)
|
rs786204536
|
0.00001
|
|
NM_000018.4(ACADVL):c.690C>T (p.Thr230=)
|
rs749436149
|
0.00001
|
|
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)
|
rs746944448
|
0.00001
|
|
NM_000018.4(ACADVL):c.707C>T (p.Pro236Leu)
|
rs1336637427
|
0.00001
|
|
NM_000018.4(ACADVL):c.715A>G (p.Lys239Glu)
|
rs776331587
|
0.00001
|
|
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile)
|
rs769631635
|
0.00001
|
|
NM_000018.4(ACADVL):c.728T>A (p.Leu243His)
|
rs772999007
|
0.00001
|
|
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)
|
rs749159573
|
0.00001
|
|
NM_000018.4(ACADVL):c.752+5C>T
|
rs768041919
|
0.00001
|
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
|
NM_000018.4(ACADVL):c.770del (p.Asp257fs)
|
rs2071264706
|
0.00001
|
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
|
NM_000018.4(ACADVL):c.78G>C (p.Ala26=)
|
rs1285117129
|
0.00001
|
|
NM_000018.4(ACADVL):c.823G>A (p.Val275Met)
|
rs761199646
|
0.00001
|
|
NM_000018.4(ACADVL):c.828G>A (p.Lys276=)
|
rs986417874
|
0.00001
|
|
NM_000018.4(ACADVL):c.829G>A (p.Glu277Lys)
|
rs1208459885
|
0.00001
|
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
|
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)
|
rs751556332
|
0.00001
|
|
NM_000018.4(ACADVL):c.862T>A (p.Phe288Ile)
|
rs1209359519
|
0.00001
|
|
NM_000018.4(ACADVL):c.864C>T (p.Phe288=)
|
rs753748672
|
0.00001
|
|
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)
|
rs745557512
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+19G>C
|
rs1405611766
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+1G>C
|
rs757946752
|
0.00001
|
|
NM_000018.4(ACADVL):c.878+8A>C
|
rs910644475
|
0.00001
|
|
NM_000018.4(ACADVL):c.879-16C>A
|
rs780626099
|
0.00001
|
|
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)
|
rs200573371
|
0.00001
|
|
NM_000018.4(ACADVL):c.882G>A (p.Gly294=)
|
rs1314252710
|
0.00001
|
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
|
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)
|
rs749598830
|
0.00001
|
|
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)
|
rs771247610
|
0.00001
|
|
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)
|
rs142765230
|
0.00001
|
|
NM_000018.4(ACADVL):c.907A>G (p.Lys303Glu)
|
rs369149696
|
0.00001
|
|
NM_000018.4(ACADVL):c.91C>T (p.Pro31Ser)
|
rs1487946294
|
0.00001
|
|
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala)
|
rs398123095
|
0.00001
|
|
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)
|
rs762653370
|
0.00001
|
|
NM_000018.4(ACADVL):c.95G>A (p.Arg32Gln)
|
rs754806489
|
0.00001
|
|
NM_000018.4(ACADVL):c.964G>A (p.Val322Met)
|
rs1257648581
|
0.00001
|
|
NM_000018.4(ACADVL):c.967C>T (p.Leu323=)
|
rs778134085
|
0.00001
|
|
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)
|
rs749734276
|
0.00001
|
|
NM_000018.4(ACADVL):c.984T>C (p.Ser328=)
|
rs148803927
|
0.00001
|
|
NM_000018.4(ACADVL):c.999C>G (p.Ala333=)
|
rs760659262
|
0.00001
|
|
NM_000019.4(ACAT1):c.1026G>A (p.Leu342=)
|
rs1453736760
|
0.00001
|
|
NM_000019.4(ACAT1):c.1099T>C (p.Leu367=)
|
rs756978324
|
0.00001
|
|
NM_000019.4(ACAT1):c.1101G>A (p.Leu367=)
|
rs778512952
|
0.00001
|
|
NM_000019.4(ACAT1):c.1136G>T (p.Gly379Val)
|
rs120074143
|
0.00001
|
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
|
NM_000019.4(ACAT1):c.1163+1G>A
|
rs1423476705
|
0.00001
|
|
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile)
|
rs377295639
|
0.00001
|
|
NM_000019.4(ACAT1):c.1189C>A (p.His397Asn)
|
rs746332363
|
0.00001
|
|
NM_000019.4(ACAT1):c.1191T>C (p.His397=)
|
rs1439617035
|
0.00001
|
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
|
NM_000019.4(ACAT1):c.120+1G>C
|
rs779908220
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000019.4(ACAT1):c.1263C>T (p.Ala421=)
|
rs1382129086
|
0.00001
|
|
NM_000019.4(ACAT1):c.1281G>A (p.Leu427=)
|
rs1430318016
|
0.00001
|
|
NM_000019.4(ACAT1):c.129C>T (p.Val43=)
|
rs773917391
|
0.00001
|
|
NM_000019.4(ACAT1):c.138T>C (p.Ser46=)
|
rs763375578
|
0.00001
|
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
|
NM_000019.4(ACAT1):c.1A>G (p.Met1Val)
|
rs1305448140
|
0.00001
|
|
NM_000019.4(ACAT1):c.210T>G (p.Ile70Met)
|
rs1465674363
|
0.00001
|
|
NM_000019.4(ACAT1):c.267A>G (p.Ala89=)
|
rs1380608828
|
0.00001
|
|
NM_000019.4(ACAT1):c.30del (p.Ser10fs)
|
rs1565281236
|
0.00001
|
|
NM_000019.4(ACAT1):c.348T>C (p.Ser116=)
|
rs372836412
|
0.00001
|
|
NM_000019.4(ACAT1):c.354A>G (p.Pro118=)
|
rs762367702
|
0.00001
|
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
|
NM_000019.4(ACAT1):c.378T>C (p.Cys126=)
|
rs536301499
|
0.00001
|
|
NM_000019.4(ACAT1):c.380C>T (p.Ala127Val)
|
rs1591363760
|
0.00001
|
|
NM_000019.4(ACAT1):c.39C>T (p.Arg13=)
|
rs908924449
|
0.00001
|
|
NM_000019.4(ACAT1):c.421A>T (p.Met141Leu)
|
rs750876321
|
0.00001
|
|
NM_000019.4(ACAT1):c.422T>C (p.Met141Thr)
|
rs758930842
|
0.00001
|
|
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu)
|
rs120074148
|
0.00001
|
|
NM_000019.4(ACAT1):c.438T>C (p.Asp146=)
|
rs1447450319
|
0.00001
|
|
NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)
|
rs757688736
|
0.00001
|
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
|
NM_000019.4(ACAT1):c.477T>G (p.Val159=)
|
rs1200544048
|
0.00001
|
|
NM_000019.4(ACAT1):c.48C>T (p.Ser16=)
|
rs1196108614
|
0.00001
|
|
NM_000019.4(ACAT1):c.532T>C (p.Leu178=)
|
rs370063325
|
0.00001
|
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
|
NM_000019.4(ACAT1):c.627T>C (p.Asn209=)
|
rs771160678
|
0.00001
|
|
NM_000019.4(ACAT1):c.699T>C (p.Asn233=)
|
rs1409696819
|
0.00001
|
|
NM_000019.4(ACAT1):c.72+13C>T
|
rs780504384
|
0.00001
|
|
NM_000019.4(ACAT1):c.749del (p.Val250fs)
|
rs1565293957
|
0.00001
|
|
NM_000019.4(ACAT1):c.759T>C (p.Asp253=)
|
rs983216159
|
0.00001
|
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
|
NM_000019.4(ACAT1):c.864T>C (p.Asp288=)
|
rs747272327
|
0.00001
|
|
NM_000019.4(ACAT1):c.867A>C (p.Gly289=)
|
rs201725995
|
0.00001
|
|
NM_000019.4(ACAT1):c.901G>C (p.Ala301Pro)
|
rs1420321267
|
0.00001
|
|
NM_000019.4(ACAT1):c.902C>T (p.Ala301Val)
|
rs747860630
|
0.00001
|
|
NM_000019.4(ACAT1):c.914A>G (p.Asn305Ser)
|
rs562043215
|
0.00001
|
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
|
NM_000019.4(ACAT1):c.949G>A (p.Asp317Asn)
|
rs780486838
|
0.00001
|
|
NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)
|
rs1184689716
|
0.00001
|
|
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro)
|
rs120074147
|
0.00001
|
|
NM_000026.2(ADSL):c.-64C>A
|
rs576843830
|
0.00001
|
|
NM_000026.4(ADSL):c.-31C>T
|
rs747293932
|
0.00001
|
|
NM_000026.4(ADSL):c.-32C>T
|
rs1420977984
|
0.00001
|
|
NM_000026.4(ADSL):c.-56T>A
|
rs1338979561
|
0.00001
|
|
NM_000026.4(ADSL):c.1011-13A>G
|
rs768058696
|
0.00001
|
|
NM_000026.4(ADSL):c.1011-18T>C
|
rs779350776
|
0.00001
|
|
NM_000026.4(ADSL):c.1011-3T>C
|
rs1376448837
|
0.00001
|
|
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys)
|
rs780994144
|
0.00001
|
|
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)
|
rs774159147
|
0.00001
|
|
NM_000026.4(ADSL):c.1041C>T (p.Thr347=)
|
rs767608764
|
0.00001
|
|
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)
|
rs752735865
|
0.00001
|
|
NM_000026.4(ADSL):c.1071C>T (p.Asn357=)
|
rs1455722783
|
0.00001
|
|
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)
|
rs758895348
|
0.00001
|
|
NM_000026.4(ADSL):c.1089C>T (p.Val363=)
|
rs368373129
|
0.00001
|
|
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)
|
rs370851726
|
0.00001
|
|
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)
|
rs1395622939
|
0.00001
|
|
NM_000026.4(ADSL):c.1102-15dup
|
rs1413779867
|
0.00001
|
|
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)
|
rs752104617
|
0.00001
|
|
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)
|
rs778401578
|
0.00001
|
|
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)
|
rs376533026
|
0.00001
|
|
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)
|
rs796052247
|
0.00001
|
|
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)
|
rs368160421
|
0.00001
|
|
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)
|
rs2044914041
|
0.00001
|
|
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)
|
rs1264910912
|
0.00001
|
|
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)
|
rs766782678
|
0.00001
|
|
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)
|
rs755492501
|
0.00001
|
|
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)
|
rs763542069
|
0.00001
|
|
NM_000026.4(ADSL):c.1191+8A>T
|
rs1288865818
|
0.00001
|
|
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)
|
rs1196254689
|
0.00001
|
|
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)
|
rs571597579
|
0.00001
|
|
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)
|
rs372650859
|
0.00001
|
|
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)
|
rs886057505
|
0.00001
|
|
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)
|
rs554254383
|
0.00001
|
|
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)
|
rs755964863
|
0.00001
|
|
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)
|
rs777821034
|
0.00001
|
|
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe)
|
rs749427506
|
0.00001
|
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
|
NM_000026.4(ADSL):c.1350T>C (p.Thr450=)
|
rs200300396
|
0.00001
|
|
NM_000026.4(ADSL):c.1369-17T>C
|
rs758511561
|
0.00001
|
|
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)
|
rs777123162
|
0.00001
|
|
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)
|
rs796052250
|
0.00001
|
|
NM_000026.4(ADSL):c.1444T>C (p.Leu482=)
|
rs938446288
|
0.00001
|
|
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)
|
rs752938873
|
0.00001
|
|
NM_000026.4(ADSL):c.153+17T>C
|
rs369553804
|
0.00001
|
|
NM_000026.4(ADSL):c.154-9A>G
|
rs762257005
|
0.00001
|
|
NM_000026.4(ADSL):c.15C>A (p.Gly5=)
|
rs751781160
|
0.00001
|
|
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)
|
rs200169254
|
0.00001
|
|
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)
|
rs1036185928
|
0.00001
|
|
NM_000026.4(ADSL):c.255A>G (p.Arg85=)
|
rs747492297
|
0.00001
|
|
NM_000026.4(ADSL):c.258T>G (p.His86Gln)
|
rs1327764464
|
0.00001
|
|
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)
|
rs149165656
|
0.00001
|
|
NM_000026.4(ADSL):c.271C>G (p.His91Asp)
|
rs755518176
|
0.00001
|
|
NM_000026.4(ADSL):c.274G>A (p.Val92Met)
|
rs763852823
|
0.00001
|
|
NM_000026.4(ADSL):c.342T>C (p.Tyr114=)
|
rs147017931
|
0.00001
|
|
NM_000026.4(ADSL):c.357+1G>A
|
rs1275901345
|
0.00001
|
|
NM_000026.4(ADSL):c.357+4G>A
|
rs1230823834
|
0.00001
|
|
NM_000026.4(ADSL):c.358-5C>T
|
rs769856337
|
0.00001
|
|
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)
|
rs2044410316
|
0.00001
|
|
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)
|
rs2044410415
|
0.00001
|
|
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)
|
rs771267221
|
0.00001
|
|
NM_000026.4(ADSL):c.403-3T>C
|
rs766286760
|
0.00001
|
|
NM_000026.4(ADSL):c.417C>T (p.Ile139=)
|
rs1250387068
|
0.00001
|
|
NM_000026.4(ADSL):c.429C>T (p.Ala143=)
|
rs754065119
|
0.00001
|
|
NM_000026.4(ADSL):c.42C>T (p.Arg14=)
|
rs768010749
|
0.00001
|
|
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)
|
rs757413931
|
0.00001
|
|
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)
|
rs746180694
|
0.00001
|
|
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)
|
rs2044467047
|
0.00001
|
|
NM_000026.4(ADSL):c.465A>G (p.Leu155=)
|
rs139543370
|
0.00001
|
|
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)
|
rs753065207
|
0.00001
|
|
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)
|
rs1310213333
|
0.00001
|
|
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)
|
rs541051390
|
0.00001
|
|
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)
|
rs8192457
|
0.00001
|
|
NM_000026.4(ADSL):c.528T>C (p.Ile176=)
|
rs534209963
|
0.00001
|
|
NM_000026.4(ADSL):c.563G>A (p.Arg188His)
|
rs761937276
|
0.00001
|
|
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)
|
rs750614500
|
0.00001
|
|
NM_000026.4(ADSL):c.579G>C (p.Leu193=)
|
rs751928831
|
0.00001
|
|
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)
|
rs1465152683
|
0.00001
|
|
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)
|
rs376533106
|
0.00001
|
|
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)
|
rs753245184
|
0.00001
|
|
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)
|
rs745524617
|
0.00001
|
|
NM_000026.4(ADSL):c.632T>A (p.Leu211His)
|
rs2044669605
|
0.00001
|
|
NM_000026.4(ADSL):c.655-11T>G
|
rs780906231
|
0.00001
|
|
NM_000026.4(ADSL):c.702-19C>G
|
rs1396036308
|
0.00001
|
|
NM_000026.4(ADSL):c.702-2A>G
|
rs1268264761
|
0.00001
|
|
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)
|
rs1257907226
|
0.00001
|
|
NM_000026.4(ADSL):c.754C>T (p.Leu252=)
|
rs1475251951
|
0.00001
|
|
NM_000026.4(ADSL):c.789C>T (p.His263=)
|
rs772388333
|
0.00001
|
|
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)
|
rs779612414
|
0.00001
|
|
NM_000026.4(ADSL):c.793-4C>T
|
rs762409643
|
0.00001
|
|
NM_000026.4(ADSL):c.793-5C>A
|
rs377164829
|
0.00001
|
|
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)
|
rs759104126
|
0.00001
|
|
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)
|
rs181252862
|
0.00001
|
|
NM_000026.4(ADSL):c.809G>A (p.Arg270His)
|
rs760189192
|
0.00001
|
|
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)
|
rs371529148
|
0.00001
|
|
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)
|
rs796052246
|
0.00001
|
|
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)
|
rs2044779637
|
0.00001
|
|
NM_000026.4(ADSL):c.862+13T>C
|
rs768716895
|
0.00001
|
|
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)
|
rs776328750
|
0.00001
|
|
NM_000026.4(ADSL):c.873G>A (p.Ala291=)
|
rs765122847
|
0.00001
|
|
NM_000026.4(ADSL):c.899G>A (p.Arg300His)
|
rs864309550
|
0.00001
|
|
NM_000026.4(ADSL):c.926G>A (p.Arg309His)
|
rs749817666
|
0.00001
|
|
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)
|
rs202064195
|
0.00001
|
|
NM_000026.4(ADSL):c.986G>A (p.Arg329His)
|
rs768203123
|
0.00001
|
|
NM_000045.4(ARG1):c.147T>C (p.Asp49=)
|
rs1773783430
|
0.00001
|
|
NM_000045.4(ARG1):c.150T>C (p.Tyr50=)
|
rs1415873396
|
0.00001
|
|
NM_000045.4(ARG1):c.153G>T (p.Gly51=)
|
rs1320772127
|
0.00001
|
|
NM_000045.4(ARG1):c.177T>A (p.Pro59=)
|
rs753347547
|
0.00001
|
|
NM_000045.4(ARG1):c.187C>G (p.Pro63Ala)
|
rs756825623
|
0.00001
|
|
NM_000045.4(ARG1):c.210A>G (p.Pro70=)
|
rs745580041
|
0.00001
|
|
NM_000045.4(ARG1):c.230G>A (p.Ser77Asn)
|
rs1296916689
|
0.00001
|
|
NM_000045.4(ARG1):c.251T>C (p.Val84Ala)
|
rs1311659158
|
0.00001
|
|
NM_000045.4(ARG1):c.266A>C (p.Lys89Thr)
|
rs759832639
|
0.00001
|
|
NM_000045.4(ARG1):c.292G>A (p.Gly98Ser)
|
rs1251633225
|
0.00001
|
|
NM_000045.4(ARG1):c.294C>T (p.Gly98=)
|
rs763868954
|
0.00001
|
|
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg)
|
rs753829097
|
0.00001
|
|
NM_000045.4(ARG1):c.305+7T>C
|
rs886061060
|
0.00001
|
|
NM_000045.4(ARG1):c.305+8T>C
|
rs764770439
|
0.00001
|
|
NM_000045.4(ARG1):c.308T>C (p.Leu103Ser)
|
rs761773853
|
0.00001
|
|
NM_000045.4(ARG1):c.322A>G (p.Ile108Val)
|
rs1773905930
|
0.00001
|
|
NM_000045.4(ARG1):c.368T>G (p.Val123Gly)
|
rs913575060
|
0.00001
|
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
|
NM_000045.4(ARG1):c.402A>C (p.Thr134=)
|
rs1288330812
|
0.00001
|
|
NM_000045.4(ARG1):c.413G>T (p.Gly138Val)
|
rs104893943
|
0.00001
|
|
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu)
|
rs767219084
|
0.00001
|
|
NM_000045.4(ARG1):c.42T>A (p.Pro14=)
|
rs939256919
|
0.00001
|
|
NM_000045.4(ARG1):c.466-12T>C
|
rs371980294
|
0.00001
|
|
NM_000045.4(ARG1):c.466-14C>T
|
rs1773983345
|
0.00001
|
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
|
NM_000045.4(ARG1):c.486C>T (p.Phe162=)
|
rs752966614
|
0.00001
|
|
NM_000045.4(ARG1):c.501C>A (p.Pro167=)
|
rs1773988131
|
0.00001
|
|
NM_000045.4(ARG1):c.522T>C (p.Ile174=)
|
rs370289649
|
0.00001
|
|
NM_000045.4(ARG1):c.543C>T (p.Asp181=)
|
rs745787043
|
0.00001
|
|
NM_000045.4(ARG1):c.560+10T>C
|
rs527679047
|
0.00001
|
|
NM_000045.4(ARG1):c.560+18T>A
|
rs760015789
|
0.00001
|
|
NM_000045.4(ARG1):c.561-19C>A
|
rs746467226
|
0.00001
|
|
NM_000045.4(ARG1):c.561-5T>C
|
rs768201589
|
0.00001
|
|
NM_000045.4(ARG1):c.56A>T (p.Gln19Leu)
|
rs761148101
|
0.00001
|
|
NM_000045.4(ARG1):c.57+1G>A
|
rs587776539
|
0.00001
|
|
NM_000045.4(ARG1):c.606A>G (p.Glu202=)
|
rs1013928443
|
0.00001
|
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
|
NM_000045.4(ARG1):c.640G>A (p.Glu214Lys)
|
rs200496725
|
0.00001
|
|
NM_000045.4(ARG1):c.665+14G>C
|
rs758420954
|
0.00001
|
|
NM_000045.4(ARG1):c.665+6A>G
|
rs1413302131
|
0.00001
|
|
NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)
|
rs104893948
|
0.00001
|
|
NM_000045.4(ARG1):c.720C>T (p.Phe240=)
|
rs762145115
|
0.00001
|
|
NM_000045.4(ARG1):c.739C>T (p.Pro247Ser)
|
rs981570531
|
0.00001
|
|
NM_000045.4(ARG1):c.744C>T (p.Val248=)
|
rs556756212
|
0.00001
|
|
NM_000045.4(ARG1):c.758C>T (p.Thr253Ile)
|
rs748924712
|
0.00001
|
|
NM_000045.4(ARG1):c.769G>A (p.Gly257Ser)
|
rs372489226
|
0.00001
|
|
NM_000045.4(ARG1):c.76G>A (p.Glu26Lys)
|
rs998513101
|
0.00001
|
|
NM_000045.4(ARG1):c.774C>T (p.Leu258=)
|
rs770834693
|
0.00001
|
|
NM_000045.4(ARG1):c.804G>A (p.Gly268=)
|
rs747275658
|
0.00001
|
|
NM_000045.4(ARG1):c.843C>T (p.Ser281=)
|
rs771010341
|
0.00001
|
|
NM_000045.4(ARG1):c.882C>A (p.Asn294Lys)
|
rs756944730
|
0.00001
|
|
NM_000045.4(ARG1):c.913G>C (p.Gly305Arg)
|
rs866970619
|
0.00001
|
|
NM_000045.4(ARG1):c.922C>T (p.Arg308Trp)
|
rs897222563
|
0.00001
|
|
NM_000045.4(ARG1):c.926A>G (p.Glu309Gly)
|
rs775225648
|
0.00001
|
|
NM_000045.4(ARG1):c.928G>T (p.Gly310Cys)
|
rs760628925
|
0.00001
|
|
NM_000045.4(ARG1):c.93del (p.Arg32fs)
|
rs755975244
|
0.00001
|
|
NM_000048.4(ASL):c.1014T>C (p.Thr338=)
|
rs1396048492
|
0.00001
|
|
NM_000048.4(ASL):c.1020T>G (p.Ser340Arg)
|
rs771476376
|
0.00001
|
|
NM_000048.4(ASL):c.1059G>T (p.Leu353=)
|
rs771658402
|
0.00001
|
|
NM_000048.4(ASL):c.1101C>T (p.Asp367=)
|
rs199891488
|
0.00001
|
|
NM_000048.4(ASL):c.1113T>G (p.Thr371=)
|
rs1466517161
|
0.00001
|
|
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)
|
rs886062406
|
0.00001
|
|
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)
|
rs764546937
|
0.00001
|
|
NM_000048.4(ASL):c.1136G>A (p.Arg379His)
|
rs200853731
|
0.00001
|
|
NM_000048.4(ASL):c.1143+8T>C
|
rs1015804553
|
0.00001
|
|
NM_000048.4(ASL):c.1143+9G>A
|
rs368891277
|
0.00001
|
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
|
NM_000048.4(ASL):c.1173C>T (p.Ser391=)
|
rs1436177232
|
0.00001
|
|
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)
|
rs770167670
|
0.00001
|
|
NM_000048.4(ASL):c.12+10A>T
|
rs746934631
|
0.00001
|
|
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)
|
rs727503812
|
0.00001
|
|
NM_000048.4(ASL):c.1210G>A (p.Ala404Thr)
|
rs757216794
|
0.00001
|
|
NM_000048.4(ASL):c.1230G>C (p.Leu410=)
|
rs1397223617
|
0.00001
|
|
NM_000048.4(ASL):c.1239G>T (p.Leu413=)
|
rs780205992
|
0.00001
|
|
NM_000048.4(ASL):c.1250+13C>T
|
rs879422673
|
0.00001
|
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
|
NM_000048.4(ASL):c.1260C>T (p.Phe420=)
|
rs1208131360
|
0.00001
|
|
NM_000048.4(ASL):c.1269C>T (p.Asp423=)
|
rs1420011973
|
0.00001
|
|
NM_000048.4(ASL):c.1275C>T (p.Ile425=)
|
rs771218861
|
0.00001
|
|
NM_000048.4(ASL):c.1285G>T (p.Asp429Tyr)
|
rs1415535789
|
0.00001
|
|
NM_000048.4(ASL):c.1290C>T (p.Tyr430=)
|
rs780846396
|
0.00001
|
|
NM_000048.4(ASL):c.1299T>C (p.Ser433=)
|
rs764807922
|
0.00001
|
|
NM_000048.4(ASL):c.1308G>A (p.Gln436=)
|
rs751302378
|
0.00001
|
|
NM_000048.4(ASL):c.1311T>C (p.Tyr437=)
|
rs932494060
|
0.00001
|
|
NM_000048.4(ASL):c.1318C>T (p.Leu440=)
|
rs146274715
|
0.00001
|
|
NM_000048.4(ASL):c.1319T>C (p.Leu440Pro)
|
rs752915686
|
0.00001
|
|
NM_000048.4(ASL):c.1332G>A (p.Ala444=)
|
rs1020745415
|
0.00001
|
|
NM_000048.4(ASL):c.1341C>T (p.Ser447=)
|
rs558327619
|
0.00001
|
|
NM_000048.4(ASL):c.1344C>T (p.Val448=)
|
rs144011206
|
0.00001
|
|
NM_000048.4(ASL):c.141G>A (p.Arg47=)
|
rs569936169
|
0.00001
|
|
NM_000048.4(ASL):c.195T>C (p.His65=)
|
rs1431884873
|
0.00001
|
|
NM_000048.4(ASL):c.246C>T (p.Asn82=)
|
rs1281983139
|
0.00001
|
|
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)
|
rs752100894
|
0.00001
|
|
NM_000048.4(ASL):c.279G>A (p.Glu93=)
|
rs1228047537
|
0.00001
|
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
|
NM_000048.4(ASL):c.281G>A (p.Arg94His)
|
rs777437569
|
0.00001
|
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
|
NM_000048.4(ASL):c.292-14C>T
|
rs376560894
|
0.00001
|
|
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)
|
rs770375565
|
0.00001
|
|
NM_000048.4(ASL):c.306A>G (p.Ala102=)
|
rs192537483
|
0.00001
|
|
NM_000048.4(ASL):c.308C>T (p.Thr103Met)
|
rs768087423
|
0.00001
|
|
NM_000048.4(ASL):c.312A>G (p.Ala104=)
|
rs1398461862
|
0.00001
|
|
NM_000048.4(ASL):c.327G>A (p.Thr109=)
|
rs766185326
|
0.00001
|
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
|
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)
|
rs561367199
|
0.00001
|
|
NM_000048.4(ASL):c.349-1G>A
|
rs1395478201
|
0.00001
|
|
NM_000048.4(ASL):c.34C>T (p.Arg12Trp)
|
rs564735357
|
0.00001
|
|
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)
|
rs201962738
|
0.00001
|
|
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)
|
rs777235530
|
0.00001
|
|
NM_000048.4(ASL):c.446+2T>C
|
rs1268519003
|
0.00001
|
|
NM_000048.4(ASL):c.446+7C>A
|
rs1224014280
|
0.00001
|
|
NM_000048.4(ASL):c.446C>T (p.Ala149Val)
|
rs777288665
|
0.00001
|
|
NM_000048.4(ASL):c.462C>T (p.Leu154=)
|
rs1303394917
|
0.00001
|
|
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)
|
rs769017508
|
0.00001
|
|
NM_000048.4(ASL):c.468G>A (p.Pro156=)
|
rs748316235
|
0.00001
|
|
NM_000048.4(ASL):c.474C>T (p.Tyr158=)
|
rs1361999742
|
0.00001
|
|
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)
|
rs759952363
|
0.00001
|
|
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)
|
rs751590073
|
0.00001
|
|
NM_000048.4(ASL):c.552T>C (p.Ser184=)
|
rs1786675333
|
0.00001
|
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
|
NM_000048.4(ASL):c.582C>T (p.Ile194=)
|
rs746394101
|
0.00001
|
|
NM_000048.4(ASL):c.584A>G (p.Asn195Ser)
|
rs1409298819
|
0.00001
|
|
NM_000048.4(ASL):c.585T>C (p.Asn195=)
|
rs772416006
|
0.00001
|
|
NM_000048.4(ASL):c.588C>T (p.Val196=)
|
rs114242623
|
0.00001
|
|
NM_000048.4(ASL):c.602+1G>A
|
rs398123127
|
0.00001
|
|
NM_000048.4(ASL):c.603-5T>C
|
rs367999318
|
0.00001
|
|
NM_000048.4(ASL):c.613G>A (p.Ala205Thr)
|
rs771531271
|
0.00001
|
|
NM_000048.4(ASL):c.615A>G (p.Ala205=)
|
rs775013928
|
0.00001
|
|
NM_000048.4(ASL):c.625C>T (p.Leu209=)
|
rs1484116994
|
0.00001
|
|
NM_000048.4(ASL):c.633G>T (p.Val211=)
|
rs1326733063
|
0.00001
|
|
NM_000048.4(ASL):c.642G>A (p.Glu214=)
|
rs1427327330
|
0.00001
|
|
NM_000048.4(ASL):c.655+7C>T
|
rs755546894
|
0.00001
|
|
NM_000048.4(ASL):c.655G>C (p.Glu219Gln)
|
rs944576125
|
0.00001
|
|
NM_000048.4(ASL):c.660C>T (p.Leu220=)
|
rs1562741433
|
0.00001
|
|
NM_000048.4(ASL):c.693T>C (p.Asp231=)
|
rs1312699116
|
0.00001
|
|
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)
|
rs764602422
|
0.00001
|
|
NM_000048.4(ASL):c.708G>C (p.Arg236=)
|
rs1206710088
|
0.00001
|
|
NM_000048.4(ASL):c.713T>A (p.Phe238Tyr)
|
rs754283030
|
0.00001
|
|
NM_000048.4(ASL):c.719-1G>A
|
rs369828060
|
0.00001
|
|
NM_000048.4(ASL):c.720C>T (p.Ala240=)
|
rs764072757
|
0.00001
|
|
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)
|
rs924321091
|
0.00001
|
|
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)
|
rs1405344068
|
0.00001
|
|
NM_000048.4(ASL):c.76G>A (p.Ala26Thr)
|
rs775839623
|
0.00001
|
|
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)
|
rs909358635
|
0.00001
|
|
NM_000048.4(ASL):c.789C>T (p.Tyr263=)
|
rs1388633554
|
0.00001
|
|
NM_000048.4(ASL):c.795C>T (p.Thr265=)
|
rs757101256
|
0.00001
|
|
NM_000048.4(ASL):c.833+10G>A
|
rs544134586
|
0.00001
|
|
NM_000048.4(ASL):c.833+16C>T
|
rs949611035
|
0.00001
|
|
NM_000048.4(ASL):c.833+4A>G
|
rs375854730
|
0.00001
|
|
NM_000048.4(ASL):c.834-14A>G
|
rs1786759930
|
0.00001
|
|
NM_000048.4(ASL):c.839G>A (p.Gly280Glu)
|
rs1085307952
|
0.00001
|
|
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)
|
rs750431938
|
0.00001
|
|
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)
|
rs754995756
|
0.00001
|
|
NM_000048.4(ASL):c.95G>A (p.Arg32Gln)
|
rs149108910
|
0.00001
|
|
NM_000048.4(ASL):c.976C>A (p.Gln326Lys)
|
rs398123129
|
0.00001
|
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
|
NM_000048.4(ASL):c.979-8C>T
|
rs781673231
|
0.00001
|
|
NM_000048.4(ASL):c.981G>A (p.Glu327=)
|
rs770579327
|
0.00001
|
|
NM_000071.3(CBS):c.1005C>T (p.Ala335=)
|
rs753731849
|
0.00001
|
|
NM_000071.3(CBS):c.1007G>A (p.Arg336His)
|
rs760417941
|
0.00001
|
|
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)
|
rs1282760211
|
0.00001
|
|
NM_000071.3(CBS):c.1020G>A (p.Ala340=)
|
rs768294788
|
0.00001
|
|
NM_000071.3(CBS):c.1029G>C (p.Gly343=)
|
rs1332776421
|
0.00001
|
|
NM_000071.3(CBS):c.1035G>T (p.Leu345=)
|
rs746340769
|
0.00001
|
|
NM_000071.3(CBS):c.1065G>A (p.Ala355=)
|
rs748552493
|
0.00001
|
|
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)
|
rs863223437
|
0.00001
|
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
|
NM_000071.3(CBS):c.1110C>T (p.Cys370=)
|
rs752404089
|
0.00001
|
|
NM_000071.3(CBS):c.1111G>A (p.Val371Met)
|
rs372010465
|
0.00001
|
|
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)
|
rs763036586
|
0.00001
|
|
NM_000071.3(CBS):c.1145+9C>T
|
rs745997797
|
0.00001
|
|
NM_000071.3(CBS):c.1146-5C>T
|
rs941685349
|
0.00001
|
|
NM_000071.3(CBS):c.1155C>T (p.Phe385=)
|
rs754691256
|
0.00001
|
|
NM_000071.3(CBS):c.1224-6C>T
|
rs755369737
|
0.00001
|
|
NM_000071.3(CBS):c.126G>C (p.Leu42=)
|
rs752812436
|
0.00001
|
|
NM_000071.3(CBS):c.1299C>T (p.His433=)
|
rs1188405012
|
0.00001
|
|
NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)
|
rs1324151005
|
0.00001
|
|
NM_000071.3(CBS):c.1329C>T (p.Phe443=)
|
rs747186128
|
0.00001
|
|
NM_000071.3(CBS):c.1332C>T (p.Asp444=)
|
rs1060503998
|
0.00001
|
|
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)
|
rs367962613
|
0.00001
|
|
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)
|
rs121964971
|
0.00001
|
|
NM_000071.3(CBS):c.1398G>A (p.Ser466=)
|
rs766199408
|
0.00001
|
|
NM_000071.3(CBS):c.144T>G (p.Ala48=)
|
rs770839773
|
0.00001
|
|
NM_000071.3(CBS):c.1452C>T (p.Tyr484=)
|
rs776806222
|
0.00001
|
|
NM_000071.3(CBS):c.1478C>T (p.Thr493Met)
|
rs996249907
|
0.00001
|
|
NM_000071.3(CBS):c.1497C>G (p.Leu499=)
|
rs1477206467
|
0.00001
|
|
NM_000071.3(CBS):c.1551G>A (p.Gln517=)
|
rs750311684
|
0.00001
|
|
NM_000071.3(CBS):c.1553-13G>A
|
rs766380369
|
0.00001
|
|
NM_000071.3(CBS):c.15C>T (p.Thr5=)
|
rs137920248
|
0.00001
|
|
NM_000071.3(CBS):c.1600G>A (p.Val534Ile)
|
rs779569366
|
0.00001
|
|
NM_000071.3(CBS):c.168G>A (p.Leu56=)
|
rs752055364
|
0.00001
|
|
NM_000071.3(CBS):c.172C>T (p.Arg58Trp)
|
rs555959266
|
0.00001
|
|
NM_000071.3(CBS):c.180C>T (p.Ala60=)
|
rs755282601
|
0.00001
|
|
NM_000071.3(CBS):c.210-3C>T
|
rs562656023
|
0.00001
|
|
NM_000071.3(CBS):c.28del (p.Val10fs)
|
rs779250698
|
0.00001
|
|
NM_000071.3(CBS):c.34C>T (p.Pro12Ser)
|
rs558259739
|
0.00001
|
|
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)
|
rs886057100
|
0.00001
|
|
NM_000071.3(CBS):c.390T>C (p.Ala130=)
|
rs758553912
|
0.00001
|
|
NM_000071.3(CBS):c.395G>A (p.Arg132His)
|
rs779011920
|
0.00001
|
|
NM_000071.3(CBS):c.399C>T (p.Asp133=)
|
rs200362321
|
0.00001
|
|
NM_000071.3(CBS):c.401G>C (p.Gly134Ala)
|
rs766958673
|
0.00001
|
|
NM_000071.3(CBS):c.422C>T (p.Thr141Met)
|
rs771178320
|
0.00001
|
|
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)
|
rs755952006
|
0.00001
|
|
NM_000071.3(CBS):c.447C>T (p.Asn149=)
|
rs1457546374
|
0.00001
|
|
NM_000071.3(CBS):c.463G>A (p.Ala155Thr)
|
rs1429138569
|
0.00001
|
|
NM_000071.3(CBS):c.473C>T (p.Ala158Val)
|
rs1376851289
|
0.00001
|
|
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)
|
rs1347651454
|
0.00001
|
|
NM_000071.3(CBS):c.505A>T (p.Met169Leu)
|
rs1371228792
|
0.00001
|
|
NM_000071.3(CBS):c.532-8T>C
|
rs775695225
|
0.00001
|
|
NM_000071.3(CBS):c.548C>T (p.Ala183Val)
|
rs374464810
|
0.00001
|
|
NM_000071.3(CBS):c.564T>C (p.Ile188=)
|
rs771803581
|
0.00001
|
|
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)
|
rs201118737
|
0.00001
|
|
NM_000071.3(CBS):c.666+10C>A
|
rs773040114
|
0.00001
|
|
NM_000071.3(CBS):c.675C>T (p.Asn225=)
|
rs145303290
|
0.00001
|
|
NM_000071.3(CBS):c.676G>C (p.Ala226Pro)
|
rs763835246
|
0.00001
|
|
NM_000071.3(CBS):c.687C>T (p.Pro229=)
|
rs769298649
|
0.00001
|
|
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)
|
rs775785018
|
0.00001
|
|
NM_000071.3(CBS):c.72G>A (p.Ala24=)
|
rs145466242
|
0.00001
|
|
NM_000071.3(CBS):c.736+1G>A
|
rs1166621523
|
0.00001
|
|
NM_000071.3(CBS):c.736+4C>T
|
rs756191746
|
0.00001
|
|
NM_000071.3(CBS):c.736+5G>A
|
rs750518463
|
0.00001
|
|
NM_000071.3(CBS):c.736+6T>C
|
rs201727754
|
0.00001
|
|
NM_000071.3(CBS):c.736+7C>T
|
rs757332652
|
0.00001
|
|
NM_000071.3(CBS):c.737-11C>T
|
rs769967427
|
0.00001
|
|
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)
|
rs121964969
|
0.00001
|
|
NM_000071.3(CBS):c.79_81dup (p.Ser27dup)
|
rs754535608
|
0.00001
|
|
NM_000071.3(CBS):c.828+1G>A
|
rs763290176
|
0.00001
|
|
NM_000071.3(CBS):c.829-3C>T
|
rs780624117
|
0.00001
|
|
NM_000071.3(CBS):c.840G>A (p.Val280=)
|
rs1060500682
|
0.00001
|
|
NM_000071.3(CBS):c.870G>A (p.Pro290=)
|
rs773580068
|
0.00001
|
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
|
NM_000071.3(CBS):c.984T>C (p.Asp328=)
|
rs752829651
|
0.00001
|
|
NM_000071.3(CBS):c.993G>A (p.Ala331=)
|
rs759398443
|
0.00001
|
|
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
|
rs762641521
|
0.00001
|
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
|
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
|
rs377345899
|
0.00001
|
|
NM_000108.5(DLD):c.1161T>C (p.Asn387=)
|
rs1232556757
|
0.00001
|
|
NM_000108.5(DLD):c.1182C>T (p.Tyr394=)
|
rs757087726
|
0.00001
|
|
NM_000108.5(DLD):c.119-5C>T
|
rs377653882
|
0.00001
|
|
NM_000108.5(DLD):c.1236+9G>A
|
rs780911500
|
0.00001
|
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
|
NM_000108.5(DLD):c.1275T>C (p.Ala425=)
|
rs751879528
|
0.00001
|
|
NM_000108.5(DLD):c.1372C>G (p.Pro458Ala)
|
rs779723449
|
0.00001
|
|
NM_000108.5(DLD):c.1374+8T>C
|
rs768177436
|
0.00001
|
|
NM_000108.5(DLD):c.1443T>G (p.Ala481=)
|
rs775957704
|
0.00001
|
|
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
|
rs1381413555
|
0.00001
|
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
|
NM_000108.5(DLD):c.199-4G>T
|
rs763348101
|
0.00001
|
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
|
NM_000108.5(DLD):c.204C>G (p.Val68=)
|
rs553951105
|
0.00001
|
|
NM_000108.5(DLD):c.236C>T (p.Thr79Ile)
|
rs1064795549
|
0.00001
|
|
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
|
rs778122189
|
0.00001
|
|
NM_000108.5(DLD):c.268-19T>C
|
rs373587265
|
0.00001
|
|
NM_000108.5(DLD):c.268-7C>T
|
rs1584463325
|
0.00001
|
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
|
NM_000108.5(DLD):c.387T>A (p.Thr129=)
|
rs748122031
|
0.00001
|
|
NM_000108.5(DLD):c.39+11A>C
|
rs2031564900
|
0.00001
|
|
NM_000108.5(DLD):c.393A>G (p.Val131=)
|
rs773013949
|
0.00001
|
|
NM_000108.5(DLD):c.417C>G (p.Ala139=)
|
rs759291025
|
0.00001
|
|
NM_000108.5(DLD):c.504T>C (p.Asp168=)
|
rs1291877622
|
0.00001
|
|
NM_000108.5(DLD):c.540T>C (p.Leu180=)
|
rs369876154
|
0.00001
|
|
NM_000108.5(DLD):c.57A>T (p.Arg19=)
|
rs754899464
|
0.00001
|
|
NM_000108.5(DLD):c.606A>T (p.Ser202=)
|
rs1362069416
|
0.00001
|
|
NM_000108.5(DLD):c.669A>C (p.Val223=)
|
rs764478905
|
0.00001
|
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
|
NM_000108.5(DLD):c.684+9T>A
|
rs1160897223
|
0.00001
|
|
NM_000108.5(DLD):c.741T>C (p.His247=)
|
rs781000040
|
0.00001
|
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
|
NM_000108.5(DLD):c.96G>C (p.Leu32=)
|
rs765623212
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
|
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)
|
rs201424632
|
0.00001
|
|
NM_000126.4(ETFA):c.187-4A>T
|
rs745823838
|
0.00001
|
|
NM_000126.4(ETFA):c.21G>C (p.Pro7=)
|
rs903002200
|
0.00001
|
|
NM_000126.4(ETFA):c.264T>A (p.Leu88=)
|
rs1405829462
|
0.00001
|
|
NM_000126.4(ETFA):c.269-5C>T
|
rs2039776155
|
0.00001
|
|
NM_000126.4(ETFA):c.273A>G (p.Glu91=)
|
rs1043494451
|
0.00001
|
|
NM_000126.4(ETFA):c.283T>C (p.Leu95=)
|
rs759065701
|
0.00001
|
|
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)
|
rs727503918
|
0.00001
|
|
NM_000126.4(ETFA):c.30C>T (p.Leu10=)
|
rs1042921735
|
0.00001
|
|
NM_000126.4(ETFA):c.321C>T (p.His107=)
|
rs368550471
|
0.00001
|
|
NM_000126.4(ETFA):c.342C>T (p.Ala114=)
|
rs1306072739
|
0.00001
|
|
NM_000126.4(ETFA):c.351+10T>C
|
rs768357479
|
0.00001
|
|
NM_000126.4(ETFA):c.354C>T (p.Asn118=)
|
rs761728625
|
0.00001
|
|
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)
|
rs1323414196
|
0.00001
|
|
NM_000126.4(ETFA):c.393G>A (p.Pro131=)
|
rs769299291
|
0.00001
|
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
|
NM_000126.4(ETFA):c.452-11del
|
rs764215608
|
0.00001
|
|
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)
|
rs1398343360
|
0.00001
|
|
NM_000126.4(ETFA):c.506G>A (p.Arg169His)
|
rs375660532
|
0.00001
|
|
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)
|
rs780998008
|
0.00001
|
|
NM_000126.4(ETFA):c.564A>G (p.Ala188=)
|
rs752534473
|
0.00001
|
|
NM_000126.4(ETFA):c.625del (p.Arg209fs)
|
rs1209473816
|
0.00001
|
|
NM_000126.4(ETFA):c.654G>A (p.Val218=)
|
rs779655385
|
0.00001
|
|
NM_000126.4(ETFA):c.678G>A (p.Lys226=)
|
rs774023966
|
0.00001
|
|
NM_000126.4(ETFA):c.746G>A (p.Arg249His)
|
rs886051488
|
0.00001
|
|
NM_000126.4(ETFA):c.759T>C (p.Asp253=)
|
rs142970498
|
0.00001
|
|
NM_000126.4(ETFA):c.78T>C (p.Ala26=)
|
rs773298687
|
0.00001
|
|
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)
|
rs772068605
|
0.00001
|
|
NM_000126.4(ETFA):c.831T>C (p.Ala277=)
|
rs371149279
|
0.00001
|
|
NM_000126.4(ETFA):c.883-10T>C
|
rs1289782242
|
0.00001
|
|
NM_000126.4(ETFA):c.883-14T>A
|
rs2038999587
|
0.00001
|
|
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)
|
rs1263820606
|
0.00001
|
|
NM_000126.4(ETFA):c.951A>G (p.Ala317=)
|
rs750192285
|
0.00001
|
|
NM_000126.4(ETFA):c.964-4G>A
|
rs777742977
|
0.00001
|
|
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu)
|
rs779040832
|
0.00001
|
|
NM_000137.4(FAH):c.1039G>A (p.Ala347Thr)
|
rs376563006
|
0.00001
|
|
NM_000137.4(FAH):c.1078G>A (p.Gly360Ser)
|
rs779705179
|
0.00001
|
|
NM_000137.4(FAH):c.1110G>A (p.Thr370=)
|
rs765686036
|
0.00001
|
|
NM_000137.4(FAH):c.1113G>A (p.Lys371=)
|
rs1171924945
|
0.00001
|
|
NM_000137.4(FAH):c.1119A>C (p.Ile373=)
|
rs764155500
|
0.00001
|
|
NM_000137.4(FAH):c.1122C>T (p.Asp374=)
|
rs1173090424
|
0.00001
|
|
NM_000137.4(FAH):c.1158C>T (p.Asp386=)
|
rs767824538
|
0.00001
|
|
NM_000137.4(FAH):c.1159G>A (p.Gly387Arg)
|
rs753539920
|
0.00001
|
|
NM_000137.4(FAH):c.1180+10G>A
|
rs758464032
|
0.00001
|
|
NM_000137.4(FAH):c.1188C>T (p.Cys396=)
|
rs746752457
|
0.00001
|
|
NM_000137.4(FAH):c.1194G>A (p.Gly398=)
|
rs780323996
|
0.00001
|
|
NM_000137.4(FAH):c.1236G>A (p.Val412=)
|
rs761729916
|
0.00001
|
|
NM_000137.4(FAH):c.141G>A (p.Lys47=)
|
rs1202678414
|
0.00001
|
|
NM_000137.4(FAH):c.155G>A (p.Gly52Asp)
|
rs780944655
|
0.00001
|
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
|
NM_000137.4(FAH):c.233G>A (p.Trp78Ter)
|
rs1268482591
|
0.00001
|
|
NM_000137.4(FAH):c.237G>A (p.Lys79=)
|
rs1490117712
|
0.00001
|
|
NM_000137.4(FAH):c.261C>T (p.Asn87=)
|
rs763985544
|
0.00001
|
|
NM_000137.4(FAH):c.296A>G (p.Asp99Gly)
|
rs547847694
|
0.00001
|
|
NM_000137.4(FAH):c.300C>T (p.Thr100=)
|
rs567587933
|
0.00001
|
|
NM_000137.4(FAH):c.315-3C>G
|
rs1171235203
|
0.00001
|
|
NM_000137.4(FAH):c.315-9G>A
|
rs768269250
|
0.00001
|
|
NM_000137.4(FAH):c.318A>G (p.Ala106=)
|
rs141827305
|
0.00001
|
|
NM_000137.4(FAH):c.33C>T (p.Asp11=)
|
rs1276283182
|
0.00001
|
|
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter)
|
rs1193030161
|
0.00001
|
|
NM_000137.4(FAH):c.387C>T (p.Ser129=)
|
rs770974311
|
0.00001
|
|
NM_000137.4(FAH):c.3G>A (p.Met1Ile)
|
rs766882348
|
0.00001
|
|
NM_000137.4(FAH):c.407A>G (p.Asn136Ser)
|
rs768365621
|
0.00001
|
|
NM_000137.4(FAH):c.438del (p.Asn146fs)
|
rs779642226
|
0.00001
|
|
NM_000137.4(FAH):c.442T>C (p.Leu148=)
|
rs139430892
|
0.00001
|
|
NM_000137.4(FAH):c.455+19G>C
|
rs774022499
|
0.00001
|
|
NM_000137.4(FAH):c.492C>T (p.Ser164=)
|
rs754416947
|
0.00001
|
|
NM_000137.4(FAH):c.498C>T (p.Val166=)
|
rs143712599
|
0.00001
|
|
NM_000137.4(FAH):c.528C>T (p.Pro176=)
|
rs1299029114
|
0.00001
|
|
NM_000137.4(FAH):c.548_553+20del
|
rs768180953
|
0.00001
|
|
NM_000137.4(FAH):c.553+7G>A
|
rs2041210647
|
0.00001
|
|
NM_000137.4(FAH):c.697G>A (p.Asp233Asn)
|
rs144902834
|
0.00001
|
|
NM_000137.4(FAH):c.699C>T (p.Asp233=)
|
rs1358109972
|
0.00001
|
|
NM_000137.4(FAH):c.723G>A (p.Lys241=)
|
rs199995781
|
0.00001
|
|
NM_000137.4(FAH):c.729G>A (p.Glu243=)
|
rs1283645707
|
0.00001
|
|
NM_000137.4(FAH):c.742G>A (p.Gly248Arg)
|
rs774861939
|
0.00001
|
|
NM_000137.4(FAH):c.759G>A (p.Lys253=)
|
rs750572597
|
0.00001
|
|
NM_000137.4(FAH):c.783G>A (p.Pro261=)
|
rs777792671
|
0.00001
|
|
NM_000137.4(FAH):c.81+2T>A
|
rs772895065
|
0.00001
|
|
NM_000137.4(FAH):c.836A>G (p.Gln279Arg)
|
rs121965078
|
0.00001
|
|
NM_000137.4(FAH):c.913+8G>A
|
rs1245028497
|
0.00001
|
|
NM_000137.4(FAH):c.933G>A (p.Ala311=)
|
rs375166793
|
0.00001
|
|
NM_000137.4(FAH):c.960+12C>T
|
rs370507945
|
0.00001
|
|
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter)
|
rs886044640
|
0.00001
|
|
NM_000137.4(FAH):c.982C>T (p.Gln328Ter)
|
rs765134063
|
0.00001
|
|
NM_000156.6(GAMT):c.151C>G (p.His51Asp)
|
rs1131691409
|
0.00001
|
|
NM_000156.6(GAMT):c.152A>T (p.His51Leu)
|
rs1473896815
|
0.00001
|
|
NM_000156.6(GAMT):c.153C>T (p.His51=)
|
rs760366501
|
0.00001
|
|
NM_000156.6(GAMT):c.154G>A (p.Ala52Thr)
|
rs1010921007
|
0.00001
|
|
NM_000156.6(GAMT):c.179A>G (p.Lys60Arg)
|
rs1228556317
|
0.00001
|
|
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu)
|
rs77168423
|
0.00001
|
|
NM_000156.6(GAMT):c.198G>A (p.Glu66=)
|
rs772132045
|
0.00001
|
|
NM_000156.6(GAMT):c.207T>C (p.Phe69=)
|
rs1334995399
|
0.00001
|
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
0.00001
|
|
NM_000156.6(GAMT):c.226T>C (p.Ser76Pro)
|
rs1340590108
|
0.00001
|
|
NM_000156.6(GAMT):c.228A>T (p.Ser76=)
|
rs752364729
|
0.00001
|
|
NM_000156.6(GAMT):c.229A>G (p.Lys77Glu)
|
rs780909879
|
0.00001
|
|
NM_000156.6(GAMT):c.25A>G (p.Ile9Val)
|
rs1555777381
|
0.00001
|
|
NM_000156.6(GAMT):c.267C>T (p.Ile89=)
|
rs1457175740
|
0.00001
|
|
NM_000156.6(GAMT):c.26T>A (p.Ile9Asn)
|
rs2082633745
|
0.00001
|
|
NM_000156.6(GAMT):c.282C>T (p.Gly94=)
|
rs771191011
|
0.00001
|
|
NM_000156.6(GAMT):c.283G>A (p.Val95Ile)
|
rs140778208
|
0.00001
|
|
NM_000156.6(GAMT):c.289C>T (p.Gln97Ter)
|
rs1215576338
|
0.00001
|
|
NM_000156.6(GAMT):c.293G>A (p.Arg98Gln)
|
rs200052696
|
0.00001
|
|
NM_000156.6(GAMT):c.312A>G (p.Pro104=)
|
rs779679242
|
0.00001
|
|
NM_000156.6(GAMT):c.317A>C (p.Gln106Pro)
|
rs145817990
|
0.00001
|
|
NM_000156.6(GAMT):c.324C>A (p.His108Gln)
|
rs1289804170
|
0.00001
|
|
NM_000156.6(GAMT):c.327+5C>T
|
rs1489553949
|
0.00001
|
|
NM_000156.6(GAMT):c.328-1G>A
|
rs756772965
|
0.00001
|
|
NM_000156.6(GAMT):c.347T>G (p.Leu116Arg)
|
rs765281181
|
0.00001
|
|
NM_000156.6(GAMT):c.354G>C (p.Glu118Asp)
|
rs1180941527
|
0.00001
|
|
NM_000156.6(GAMT):c.367A>G (p.Thr123Ala)
|
rs771827261
|
0.00001
|
|
NM_000156.6(GAMT):c.372G>A (p.Leu124=)
|
rs748762855
|
0.00001
|
|
NM_000156.6(GAMT):c.384C>T (p.His128=)
|
rs1310922766
|
0.00001
|
|
NM_000156.6(GAMT):c.38G>C (p.Gly13Ala)
|
rs1600160699
|
0.00001
|
|
NM_000156.6(GAMT):c.391+15G>T
|
rs367567416
|
0.00001
|
|
NM_000156.6(GAMT):c.391+17C>T
|
rs374989534
|
0.00001
|
|
NM_000156.6(GAMT):c.391+18G>A
|
rs765964500
|
0.00001
|
|
NM_000156.6(GAMT):c.391+3G>A
|
rs1339573774
|
0.00001
|
|
NM_000156.6(GAMT):c.392-19G>T
|
rs1031492095
|
0.00001
|
|
NM_000156.6(GAMT):c.392-6G>A
|
rs753979877
|
0.00001
|
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
|
NM_000156.6(GAMT):c.408G>A (p.Thr136=)
|
rs772974568
|
0.00001
|
|
NM_000156.6(GAMT):c.410A>C (p.Tyr137Ser)
|
rs1131691930
|
0.00001
|
|
NM_000156.6(GAMT):c.414A>G (p.Pro138=)
|
rs1376380710
|
0.00001
|
|
NM_000156.6(GAMT):c.426G>A (p.Glu142=)
|
rs372673897
|
0.00001
|
|
NM_000156.6(GAMT):c.428C>T (p.Thr143Ile)
|
rs746251691
|
0.00001
|
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
|
NM_000156.6(GAMT):c.459+17T>C
|
rs1057522464
|
0.00001
|
|
NM_000156.6(GAMT):c.460-6C>T
|
rs777981486
|
0.00001
|
|
NM_000156.6(GAMT):c.464A>T (p.His155Leu)
|
rs1308730662
|
0.00001
|
|
NM_000156.6(GAMT):c.470T>G (p.Phe157Cys)
|
rs751570656
|
0.00001
|
|
NM_000156.6(GAMT):c.473G>A (p.Arg158His)
|
rs750195151
|
0.00001
|
|
NM_000156.6(GAMT):c.475C>T (p.Leu159=)
|
rs765014324
|
0.00001
|
|
NM_000156.6(GAMT):c.492C>T (p.Gly164=)
|
rs1555777026
|
0.00001
|
|
NM_000156.6(GAMT):c.553A>C (p.Ile185Leu)
|
rs757108273
|
0.00001
|
|
NM_000156.6(GAMT):c.560T>C (p.Ile187Thr)
|
rs1421013354
|
0.00001
|
|
NM_000156.6(GAMT):c.570+9A>C
|
rs763489091
|
0.00001
|
|
NM_000156.6(GAMT):c.571-3C>G
|
rs1367661704
|
0.00001
|
|
NM_000156.6(GAMT):c.571-8C>T
|
rs1344390513
|
0.00001
|
|
NM_000156.6(GAMT):c.583C>G (p.Pro195Ala)
|
rs1285848023
|
0.00001
|
|
NM_000156.6(GAMT):c.586G>A (p.Ala196Thr)
|
rs1355291180
|
0.00001
|
|
NM_000156.6(GAMT):c.588G>A (p.Ala196=)
|
rs747909654
|
0.00001
|
|
NM_000156.6(GAMT):c.601G>A (p.Gly201Ser)
|
rs540554423
|
0.00001
|
|
NM_000156.6(GAMT):c.607C>T (p.Arg203Trp)
|
rs746633494
|
0.00001
|
|
NM_000156.6(GAMT):c.624T>C (p.Arg208=)
|
rs759873807
|
0.00001
|
|
NM_000156.6(GAMT):c.627G>A (p.Thr209=)
|
rs1012771142
|
0.00001
|
|
NM_000156.6(GAMT):c.636G>A (p.Met212Ile)
|
rs769713716
|
0.00001
|
|
NM_000156.6(GAMT):c.638C>T (p.Ala213Val)
|
rs761535571
|
0.00001
|
|
NM_000156.6(GAMT):c.639G>A (p.Ala213=)
|
rs373479245
|
0.00001
|
|
NM_000156.6(GAMT):c.649C>G (p.Pro217Ala)
|
rs1192722850
|
0.00001
|
|
NM_000156.6(GAMT):c.64G>A (p.Ala22Thr)
|
rs886054248
|
0.00001
|
|
NM_000156.6(GAMT):c.654C>T (p.Ala218=)
|
rs561375487
|
0.00001
|
|
NM_000156.6(GAMT):c.668dup (p.Tyr223Ter)
|
rs781163821
|
0.00001
|
|
NM_000156.6(GAMT):c.672C>T (p.Ala224=)
|
rs2082606258
|
0.00001
|
|
NM_000156.6(GAMT):c.675C>T (p.Phe225=)
|
rs761788121
|
0.00001
|
|
NM_000156.6(GAMT):c.689C>T (p.Thr230Met)
|
rs776537906
|
0.00001
|
|
NM_000156.6(GAMT):c.690G>A (p.Thr230=)
|
rs763944598
|
0.00001
|
|
NM_000156.6(GAMT):c.701C>T (p.Thr234Ile)
|
rs1401966018
|
0.00001
|
|
NM_000159.4(GCDH):c.1014C>T (p.Asp338=)
|
rs1400225199
|
0.00001
|
|
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)
|
rs752234195
|
0.00001
|
|
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)
|
rs1257292639
|
0.00001
|
|
NM_000159.4(GCDH):c.1051C>T (p.Leu351=)
|
rs1306667649
|
0.00001
|
|
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)
|
rs768925619
|
0.00001
|
|
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)
|
rs748275416
|
0.00001
|
|
NM_000159.4(GCDH):c.1077G>A (p.Gln359=)
|
rs947840778
|
0.00001
|
|
NM_000159.4(GCDH):c.1082+8C>T
|
rs199627852
|
0.00001
|
|
NM_000159.4(GCDH):c.1088C>T (p.Ala363Val)
|
rs1278213620
|
0.00001
|
|
NM_000159.4(GCDH):c.1108C>T (p.Leu370=)
|
rs747792184
|
0.00001
|
|
NM_000159.4(GCDH):c.1114A>C (p.Arg372=)
|
rs771924230
|
0.00001
|
|
NM_000159.4(GCDH):c.1123T>C (p.Cys375Arg)
|
rs1348974766
|
0.00001
|
|
NM_000159.4(GCDH):c.1131A>G (p.Lys377=)
|
rs139241235
|
0.00001
|
|
NM_000159.4(GCDH):c.1140C>T (p.Asp380=)
|
rs760363668
|
0.00001
|
|
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)
|
rs752127949
|
0.00001
|
|
NM_000159.4(GCDH):c.117A>G (p.Gln39=)
|
rs752609314
|
0.00001
|
|
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)
|
rs1555751336
|
0.00001
|
|
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)
|
rs1970722328
|
0.00001
|
|
NM_000159.4(GCDH):c.1213dup (p.Met405fs)
|
rs1377352983
|
0.00001
|
|
NM_000159.4(GCDH):c.1236C>T (p.Thr412=)
|
rs767895203
|
0.00001
|
|
NM_000159.4(GCDH):c.1239C>T (p.Tyr413=)
|
rs776082304
|
0.00001
|
|
NM_000159.4(GCDH):c.1244-4C>A
|
rs774546166
|
0.00001
|
|
NM_000159.4(GCDH):c.1260C>T (p.His420=)
|
rs777575306
|
0.00001
|
|
NM_000159.4(GCDH):c.1266G>A (p.Leu422=)
|
rs148091111
|
0.00001
|
|
NM_000159.4(GCDH):c.1269C>T (p.Ile423=)
|
rs1336423127
|
0.00001
|
|
NM_000159.4(GCDH):c.127+1G>A
|
rs1473339589
|
0.00001
|
|
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met)
|
rs745360675
|
0.00001
|
|
NM_000159.4(GCDH):c.129C>T (p.Ser43=)
|
rs144678094
|
0.00001
|
|
NM_000159.4(GCDH):c.148T>G (p.Trp50Gly)
|
rs758646992
|
0.00001
|
|
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)
|
rs768532620
|
0.00001
|
|
NM_000159.4(GCDH):c.198del (p.Ile67fs)
|
rs1057517088
|
0.00001
|
|
NM_000159.4(GCDH):c.207C>T (p.Asp69=)
|
rs752123594
|
0.00001
|
|
NM_000159.4(GCDH):c.209C>A (p.Thr70Asn)
|
rs770537412
|
0.00001
|
|
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter)
|
rs898043081
|
0.00001
|
|
NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)
|
rs780408127
|
0.00001
|
|
NM_000159.4(GCDH):c.278A>T (p.His93Leu)
|
rs398123192
|
0.00001
|
|
NM_000159.4(GCDH):c.294G>A (p.Ser98=)
|
rs774554314
|
0.00001
|
|
NM_000159.4(GCDH):c.300G>A (p.Met100Ile)
|
rs759838598
|
0.00001
|
|
NM_000159.4(GCDH):c.325A>G (p.Thr109Ala)
|
rs1419527696
|
0.00001
|
|
NM_000159.4(GCDH):c.334+15C>T
|
rs200188623
|
0.00001
|
|
NM_000159.4(GCDH):c.334+7A>G
|
rs1970575048
|
0.00001
|
|
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu)
|
rs886043840
|
0.00001
|
|
NM_000159.4(GCDH):c.366C>G (p.Ala122=)
|
rs751364711
|
0.00001
|
|
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys)
|
rs780976048
|
0.00001
|
|
NM_000159.4(GCDH):c.382C>T (p.Arg128Ter)
|
rs752334462
|
0.00001
|
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
|
NM_000159.4(GCDH):c.419C>T (p.Ala140Val)
|
rs762052524
|
0.00001
|
|
NM_000159.4(GCDH):c.42A>T (p.Gly14=)
|
rs891920390
|
0.00001
|
|
NM_000159.4(GCDH):c.435C>T (p.Ser145=)
|
rs1239198957
|
0.00001
|
|
NM_000159.4(GCDH):c.460G>A (p.Ala154Thr)
|
rs759415410
|
0.00001
|
|
NM_000159.4(GCDH):c.463T>C (p.Tyr155His)
|
rs1482995062
|
0.00001
|
|
NM_000159.4(GCDH):c.466G>A (p.Gly156Ser)
|
rs767351827
|
0.00001
|
|
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)
|
rs1176799813
|
0.00001
|
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
|
NM_000159.4(GCDH):c.489G>A (p.Lys163=)
|
rs1198939173
|
0.00001
|
|
NM_000159.4(GCDH):c.49C>T (p.Leu17=)
|
rs1295141904
|
0.00001
|
|
NM_000159.4(GCDH):c.505+13C>G
|
rs780526140
|
0.00001
|
|
NM_000159.4(GCDH):c.505+20G>T
|
rs1057522095
|
0.00001
|
|
NM_000159.4(GCDH):c.506-10G>A
|
rs753347860
|
0.00001
|
|
NM_000159.4(GCDH):c.506-4G>A
|
rs1367182882
|
0.00001
|
|
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)
|
rs749452002
|
0.00001
|
|
NM_000159.4(GCDH):c.612C>T (p.Tyr204=)
|
rs777957599
|
0.00001
|
|
NM_000159.4(GCDH):c.635+20G>A
|
rs1351975861
|
0.00001
|
|
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu)
|
rs1449724176
|
0.00001
|
|
NM_000159.4(GCDH):c.657C>T (p.Ala219=)
|
rs757621195
|
0.00001
|
|
NM_000159.4(GCDH):c.6C>T (p.Ala2=)
|
rs1970548169
|
0.00001
|
|
NM_000159.4(GCDH):c.709C>T (p.Leu237=)
|
rs1237461659
|
0.00001
|
|
NM_000159.4(GCDH):c.711G>A (p.Leu237=)
|
rs1970676956
|
0.00001
|
|
NM_000159.4(GCDH):c.722G>A (p.Gly241Glu)
|
rs769520999
|
0.00001
|
|
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)
|
rs754312389
|
0.00001
|
|
NM_000159.4(GCDH):c.75G>T (p.Ser25=)
|
rs1475316070
|
0.00001
|
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
|
NM_000159.4(GCDH):c.768G>A (p.Leu256=)
|
rs1970679799
|
0.00001
|
|
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)
|
rs751583656
|
0.00001
|
|
NM_000159.4(GCDH):c.796A>G (p.Met266Val)
|
rs745357523
|
0.00001
|
|
NM_000159.4(GCDH):c.826G>T (p.Val276Leu)
|
rs763300541
|
0.00001
|
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
|
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu)
|
rs755054282
|
0.00001
|
|
NM_000159.4(GCDH):c.837T>C (p.Gly279=)
|
rs767543724
|
0.00001
|
|
NM_000159.4(GCDH):c.849G>C (p.Leu283=)
|
rs777665473
|
0.00001
|
|
NM_000159.4(GCDH):c.857C>T (p.Pro286Leu)
|
rs1254396827
|
0.00001
|
|
NM_000159.4(GCDH):c.862G>A (p.Gly288Ser)
|
rs774157793
|
0.00001
|
|
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys)
|
rs1328059662
|
0.00001
|
|
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)
|
rs1864390545
|
0.00001
|
|
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)
|
rs373203481
|
0.00001
|
|
NM_000159.4(GCDH):c.912T>C (p.Ala304=)
|
rs780703352
|
0.00001
|
|
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)
|
rs1260580183
|
0.00001
|
|
NM_000159.4(GCDH):c.948C>T (p.Ala316=)
|
rs772743499
|
0.00001
|
|
NM_000159.4(GCDH):c.951C>T (p.Leu317=)
|
rs886450662
|
0.00001
|
|
NM_000159.4(GCDH):c.957-8C>T
|
rs776644984
|
0.00001
|
|
NM_000159.4(GCDH):c.972C>T (p.Val324=)
|
rs149646305
|
0.00001
|
|
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)
|
rs794726972
|
0.00001
|
|
NM_000161.3(GCH1):c.150G>A (p.Ala50=)
|
rs1001181151
|
0.00001
|
|
NM_000161.3(GCH1):c.153C>T (p.Asp51=)
|
rs745516526
|
0.00001
|
|
NM_000161.3(GCH1):c.1A>T (p.Met1Leu)
|
rs1555362907
|
0.00001
|
|
NM_000161.3(GCH1):c.204C>T (p.Leu68=)
|
rs557778839
|
0.00001
|
|
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr)
|
rs529381971
|
0.00001
|
|
NM_000161.3(GCH1):c.250G>C (p.Glu84Gln)
|
rs755556239
|
0.00001
|
|
NM_000161.3(GCH1):c.294G>T (p.Ala98=)
|
rs765416856
|
0.00001
|
|
NM_000161.3(GCH1):c.300G>A (p.Ser100=)
|
rs777068790
|
0.00001
|
|
NM_000161.3(GCH1):c.334A>G (p.Thr112Ala)
|
rs199990434
|
0.00001
|
|
NM_000161.3(GCH1):c.344-15A>G
|
rs1181987843
|
0.00001
|
|
NM_000161.3(GCH1):c.408C>T (p.Asp136=)
|
rs753357224
|
0.00001
|
|
NM_000161.3(GCH1):c.42G>A (p.Arg14=)
|
rs1248275477
|
0.00001
|
|
NM_000161.3(GCH1):c.510-14T>A
|
rs748309367
|
0.00001
|
|
NM_000161.3(GCH1):c.524A>T (p.Tyr175Phe)
|
rs781250171
|
0.00001
|
|
NM_000161.3(GCH1):c.541+15T>C
|
rs780398294
|
0.00001
|
|
NM_000161.3(GCH1):c.571G>A (p.Val191Ile)
|
rs762208304
|
0.00001
|
|
NM_000161.3(GCH1):c.592C>A (p.Arg198=)
|
rs752447862
|
0.00001
|
|
NM_000161.3(GCH1):c.59A>G (p.Asn20Ser)
|
rs2040586742
|
0.00001
|
|
NM_000161.3(GCH1):c.626+20T>C
|
rs775439923
|
0.00001
|
|
NM_000161.3(GCH1):c.626+2dup
|
rs1474519447
|
0.00001
|
|
NM_000161.3(GCH1):c.691T>C (p.Leu231=)
|
rs915108762
|
0.00001
|
|
NM_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
|
NM_000170.3(GLDC):c.1010G>A (p.Arg337Gln)
|
rs138129131
|
0.00001
|
|
NM_000170.3(GLDC):c.1032G>C (p.Met344Ile)
|
rs752892944
|
0.00001
|
|
NM_000170.3(GLDC):c.1033C>A (p.Pro345Thr)
|
rs373263202
|
0.00001
|
|
NM_000170.3(GLDC):c.1035T>G (p.Pro345=)
|
rs759830992
|
0.00001
|
|
NM_000170.3(GLDC):c.1050G>A (p.Gly350=)
|
rs771910050
|
0.00001
|
|
NM_000170.3(GLDC):c.1058+7G>A
|
rs1291062152
|
0.00001
|
|
NM_000170.3(GLDC):c.1058+8G>A
|
rs1230501747
|
0.00001
|
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
|
NM_000170.3(GLDC):c.1080G>T (p.Val360=)
|
rs745502236
|
0.00001
|
|
NM_000170.3(GLDC):c.1114A>G (p.Ile372Val)
|
rs755156031
|
0.00001
|
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
|
NM_000170.3(GLDC):c.1145G>A (p.Cys382Tyr)
|
rs759133707
|
0.00001
|
|
NM_000170.3(GLDC):c.1156-10T>C
|
rs748599108
|
0.00001
|
|
NM_000170.3(GLDC):c.11G>A (p.Cys4Tyr)
|
rs1267461962
|
0.00001
|
|
NM_000170.3(GLDC):c.1210C>T (p.Leu404=)
|
rs781450542
|
0.00001
|
|
NM_000170.3(GLDC):c.1215G>A (p.Glu405=)
|
rs771135075
|
0.00001
|
|
NM_000170.3(GLDC):c.1261+16G>A
|
rs760139834
|
0.00001
|
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
|
NM_000170.3(GLDC):c.1328G>A (p.Gly443Asp)
|
rs769583276
|
0.00001
|
|
NM_000170.3(GLDC):c.1332C>T (p.Cys444=)
|
rs781050148
|
0.00001
|
|
NM_000170.3(GLDC):c.1333T>C (p.Ser445Pro)
|
rs756770984
|
0.00001
|
|
NM_000170.3(GLDC):c.1359C>T (p.Ala453=)
|
rs766839627
|
0.00001
|
|
NM_000170.3(GLDC):c.1366C>T (p.Arg456Trp)
|
rs773119895
|
0.00001
|
|
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
|
rs767652664
|
0.00001
|
|
NM_000170.3(GLDC):c.1381C>T (p.Arg461Trp)
|
rs761957837
|
0.00001
|
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
|
NM_000170.3(GLDC):c.1398C>T (p.Gly466=)
|
rs746977015
|
0.00001
|
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
|
NM_000170.3(GLDC):c.1401A>G (p.Thr467=)
|
rs1818402760
|
0.00001
|
|
NM_000170.3(GLDC):c.1402-10G>A
|
rs199516238
|
0.00001
|
|
NM_000170.3(GLDC):c.1402-14T>G
|
rs376719104
|
0.00001
|
|
NM_000170.3(GLDC):c.1441C>G (p.Leu481Val)
|
rs764170083
|
0.00001
|
|
NM_000170.3(GLDC):c.1443G>C (p.Leu481=)
|
rs1334045011
|
0.00001
|
|
NM_000170.3(GLDC):c.1447G>A (p.Asp483Asn)
|
rs753029511
|
0.00001
|
|
NM_000170.3(GLDC):c.1452G>A (p.Leu484=)
|
rs766071661
|
0.00001
|
|
NM_000170.3(GLDC):c.1482+13A>G
|
rs374894047
|
0.00001
|
|
NM_000170.3(GLDC):c.1485A>G (p.Glu495=)
|
rs747500252
|
0.00001
|
|
NM_000170.3(GLDC):c.149C>T (p.Ser50Leu)
|
rs778725420
|
0.00001
|
|
NM_000170.3(GLDC):c.1517G>C (p.Arg506Thr)
|
rs754119942
|
0.00001
|
|
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala)
|
rs557412758
|
0.00001
|
|
NM_000170.3(GLDC):c.1546A>G (p.Thr516Ala)
|
rs1007990230
|
0.00001
|
|
NM_000170.3(GLDC):c.1560C>G (p.Leu520=)
|
rs748612685
|
0.00001
|
|
NM_000170.3(GLDC):c.1567C>G (p.Gln523Glu)
|
rs199711131
|
0.00001
|
|
NM_000170.3(GLDC):c.156C>T (p.Leu52=)
|
rs779860452
|
0.00001
|
|
NM_000170.3(GLDC):c.1570G>C (p.Val524Leu)
|
rs751362463
|
0.00001
|
|
NM_000170.3(GLDC):c.1572G>A (p.Val524=)
|
rs373679781
|
0.00001
|
|
NM_000170.3(GLDC):c.1580+4T>G
|
rs752642527
|
0.00001
|
|
NM_000170.3(GLDC):c.1581-11T>G
|
rs764656980
|
0.00001
|
|
NM_000170.3(GLDC):c.1606C>T (p.Arg536Trp)
|
rs1286882965
|
0.00001
|
|
NM_000170.3(GLDC):c.1607G>A (p.Arg536Gln)
|
rs747853668
|
0.00001
|
|
NM_000170.3(GLDC):c.163C>G (p.Arg55Gly)
|
rs755680488
|
0.00001
|
|
NM_000170.3(GLDC):c.1640C>G (p.Ser547Cys)
|
rs1320151906
|
0.00001
|
|
NM_000170.3(GLDC):c.1659T>G (p.Ile553Met)
|
rs763489615
|
0.00001
|
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
|
NM_000170.3(GLDC):c.1665+7A>T
|
rs759573888
|
0.00001
|
|
NM_000170.3(GLDC):c.1666-20T>C
|
rs912148549
|
0.00001
|
|
NM_000170.3(GLDC):c.1666-4A>T
|
rs909685694
|
0.00001
|
|
NM_000170.3(GLDC):c.1666-7C>T
|
rs1298989281
|
0.00001
|
|
NM_000170.3(GLDC):c.1679T>C (p.Met560Thr)
|
rs1366947118
|
0.00001
|
|
NM_000170.3(GLDC):c.1684C>T (p.Leu562=)
|
rs773483552
|
0.00001
|
|
NM_000170.3(GLDC):c.1689C>T (p.Asn563=)
|
rs546431385
|
0.00001
|
|
NM_000170.3(GLDC):c.1708-10T>C
|
rs1818291131
|
0.00001
|
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
|
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
|
rs1034614089
|
0.00001
|
|
NM_000170.3(GLDC):c.1737C>T (p.Ile579=)
|
rs746477003
|
0.00001
|
|
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu)
|
rs1296797567
|
0.00001
|
|
NM_000170.3(GLDC):c.1762G>C (p.Ala588Pro)
|
rs780654157
|
0.00001
|
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
|
NM_000170.3(GLDC):c.1817C>T (p.Thr606Ile)
|
rs772777667
|
0.00001
|
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
|
NM_000170.3(GLDC):c.1830G>A (p.Gln610=)
|
rs765268971
|
0.00001
|
|
NM_000170.3(GLDC):c.1850+7G>A
|
rs1334727362
|
0.00001
|
|
NM_000170.3(GLDC):c.1851C>T (p.Ser617=)
|
rs777724341
|
0.00001
|
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
|
NM_000170.3(GLDC):c.1871C>T (p.Ala624Val)
|
rs779980470
|
0.00001
|
|
NM_000170.3(GLDC):c.1878G>A (p.Leu626=)
|
rs1360717642
|
0.00001
|
|
NM_000170.3(GLDC):c.1887C>G (p.Ile629Met)
|
rs1400097268
|
0.00001
|
|
NM_000170.3(GLDC):c.1888C>T (p.Arg630Ter)
|
rs751025203
|
0.00001
|
|
NM_000170.3(GLDC):c.1917G>A (p.Gly639=)
|
rs776998782
|
0.00001
|
|
NM_000170.3(GLDC):c.1926+7A>T
|
rs1381047073
|
0.00001
|
|
NM_000170.3(GLDC):c.1941G>A (p.Pro647=)
|
rs1232468588
|
0.00001
|
|
NM_000170.3(GLDC):c.1953T>C (p.His651=)
|
rs777613879
|
0.00001
|
|
NM_000170.3(GLDC):c.1956G>C (p.Gly652=)
|
rs1221597797
|
0.00001
|
|
NM_000170.3(GLDC):c.2013T>A (p.Asp671Glu)
|
rs762425284
|
0.00001
|
|
NM_000170.3(GLDC):c.2019T>C (p.Tyr673=)
|
rs774506115
|
0.00001
|
|
NM_000170.3(GLDC):c.2022G>C (p.Gly674=)
|
rs768923849
|
0.00001
|
|
NM_000170.3(GLDC):c.2039A>G (p.His680Arg)
|
rs754531832
|
0.00001
|
|
NM_000170.3(GLDC):c.2052+1G>C
|
rs765906340
|
0.00001
|
|
NM_000170.3(GLDC):c.2052+7G>C
|
rs755812288
|
0.00001
|
|
NM_000170.3(GLDC):c.2053G>T (p.Val685Leu)
|
rs367988640
|
0.00001
|
|
NM_000170.3(GLDC):c.205G>A (p.Gly69Ser)
|
rs955023601
|
0.00001
|
|
NM_000170.3(GLDC):c.2070G>A (p.Glu690=)
|
rs1817629842
|
0.00001
|
|
NM_000170.3(GLDC):c.2106C>T (p.Thr702=)
|
rs751926697
|
0.00001
|
|
NM_000170.3(GLDC):c.2114T>A (p.Val705Glu)
|
rs753301368
|
0.00001
|
|
NM_000170.3(GLDC):c.2115G>A (p.Val705=)
|
rs765205689
|
0.00001
|
|
NM_000170.3(GLDC):c.2139G>A (p.Val713=)
|
rs763944767
|
0.00001
|
|
NM_000170.3(GLDC):c.2145C>T (p.Asp715=)
|
rs769158507
|
0.00001
|
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
|
NM_000170.3(GLDC):c.2192T>C (p.Met731Thr)
|
rs763854673
|
0.00001
|
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
|
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)
|
rs1817625926
|
0.00001
|
|
NM_000170.3(GLDC):c.2202+6A>G
|
rs368418946
|
0.00001
|
|
NM_000170.3(GLDC):c.2202+9T>G
|
rs765177412
|
0.00001
|
|
NM_000170.3(GLDC):c.2262G>A (p.Lys754=)
|
rs954961288
|
0.00001
|
|
NM_000170.3(GLDC):c.2271C>T (p.Cys757=)
|
rs770961258
|
0.00001
|
|
NM_000170.3(GLDC):c.2280C>T (p.His760=)
|
rs777816136
|
0.00001
|
|
NM_000170.3(GLDC):c.230A>G (p.Glu77Gly)
|
rs569728662
|
0.00001
|
|
NM_000170.3(GLDC):c.2315+1G>T
|
rs1252460597
|
0.00001
|
|
NM_000170.3(GLDC):c.2315+7T>C
|
rs747009828
|
0.00001
|
|
NM_000170.3(GLDC):c.2315+8C>T
|
rs773354023
|
0.00001
|
|
NM_000170.3(GLDC):c.2316-10A>C
|
rs1046747265
|
0.00001
|
|
NM_000170.3(GLDC):c.2316-17A>G
|
rs1263329857
|
0.00001
|
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
|
NM_000170.3(GLDC):c.2332C>G (p.Pro778Ala)
|
rs1476838990
|
0.00001
|
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
|
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val)
|
rs121964977
|
0.00001
|
|
NM_000170.3(GLDC):c.2412A>G (p.Pro804=)
|
rs1008088665
|
0.00001
|
|
NM_000170.3(GLDC):c.2437A>G (p.Ile813Val)
|
rs751624844
|
0.00001
|
|
NM_000170.3(GLDC):c.2457+10G>A
|
rs771927272
|
0.00001
|
|
NM_000170.3(GLDC):c.2469C>G (p.Gly823=)
|
rs1216155531
|
0.00001
|
|
NM_000170.3(GLDC):c.2472G>A (p.Lys824=)
|
rs1286626531
|
0.00001
|
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
|
NM_000170.3(GLDC):c.2499G>A (p.Ala833=)
|
rs767267571
|
0.00001
|
|
NM_000170.3(GLDC):c.2523C>T (p.Ala841=)
|
rs762805307
|
0.00001
|
|
NM_000170.3(GLDC):c.255+5G>T
|
rs372569318
|
0.00001
|
|
NM_000170.3(GLDC):c.256-15G>A
|
rs189719025
|
0.00001
|
|
NM_000170.3(GLDC):c.2570G>A (p.Gly857Asp)
|
rs1455180063
|
0.00001
|
|
NM_000170.3(GLDC):c.2600C>T (p.Thr867Met)
|
rs749852046
|
0.00001
|
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
|
NM_000170.3(GLDC):c.2666-4G>C
|
rs1007363577
|
0.00001
|
|
NM_000170.3(GLDC):c.2670T>C (p.Phe890=)
|
rs760961076
|
0.00001
|
|
NM_000170.3(GLDC):c.2684T>C (p.Met895Thr)
|
rs769606225
|
0.00001
|
|
NM_000170.3(GLDC):c.268T>C (p.Leu90=)
|
rs771631849
|
0.00001
|
|
NM_000170.3(GLDC):c.2697G>A (p.Val899=)
|
rs780535258
|
0.00001
|
|
NM_000170.3(GLDC):c.2706C>T (p.Thr902=)
|
rs752943013
|
0.00001
|
|
NM_000170.3(GLDC):c.2718G>A (p.Glu906=)
|
rs1463086398
|
0.00001
|
|
NM_000170.3(GLDC):c.273C>T (p.Ile91=)
|
rs1335911770
|
0.00001
|
|
NM_000170.3(GLDC):c.2742A>T (p.Ala914=)
|
rs374022098
|
0.00001
|
|
NM_000170.3(GLDC):c.2749G>C (p.Asp917His)
|
rs370297328
|
0.00001
|
|
NM_000170.3(GLDC):c.2793T>A (p.Ala931=)
|
rs367759326
|
0.00001
|
|
NM_000170.3(GLDC):c.2814C>T (p.Ile938=)
|
rs750518195
|
0.00001
|
|
NM_000170.3(GLDC):c.2820C>T (p.Pro940=)
|
rs1355492624
|
0.00001
|
|
NM_000170.3(GLDC):c.282G>A (p.Thr94=)
|
rs769003941
|
0.00001
|
|
NM_000170.3(GLDC):c.2831C>T (p.Pro944Leu)
|
rs374969047
|
0.00001
|
|
NM_000170.3(GLDC):c.2839-7G>A
|
rs771936299
|
0.00001
|
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
|
NM_000170.3(GLDC):c.2879G>A (p.Trp960Ter)
|
rs1410625190
|
0.00001
|
|
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)
|
rs1452327155
|
0.00001
|
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
|
NM_000170.3(GLDC):c.2903T>C (p.Val968Ala)
|
rs554230348
|
0.00001
|
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
|
NM_000170.3(GLDC):c.2925C>T (p.Phe975=)
|
rs1052505781
|
0.00001
|
|
NM_000170.3(GLDC):c.2936A>C (p.Glu979Ala)
|
rs550514750
|
0.00001
|
|
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)
|
rs772574530
|
0.00001
|
|
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)
|
rs1288008254
|
0.00001
|
|
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln)
|
rs749512886
|
0.00001
|
|
NM_000170.3(GLDC):c.2994G>C (p.Leu998=)
|
rs759229432
|
0.00001
|
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
|
NM_000170.3(GLDC):c.3048G>C (p.Lys1016Asn)
|
rs1034808665
|
0.00001
|
|
NM_000170.3(GLDC):c.31C>A (p.Arg11Ser)
|
rs1359478814
|
0.00001
|
|
NM_000170.3(GLDC):c.327C>T (p.Asp109=)
|
rs1181706015
|
0.00001
|
|
NM_000170.3(GLDC):c.328C>T (p.Pro110Ser)
|
rs866641732
|
0.00001
|
|
NM_000170.3(GLDC):c.346A>G (p.Ile116Val)
|
rs1010145706
|
0.00001
|
|
NM_000170.3(GLDC):c.352G>A (p.Ala118Thr)
|
rs1333702002
|
0.00001
|
|
NM_000170.3(GLDC):c.357T>C (p.Thr119=)
|
rs777954190
|
0.00001
|
|
NM_000170.3(GLDC):c.372A>T (p.Ser124=)
|
rs1162730454
|
0.00001
|
|
NM_000170.3(GLDC):c.38G>A (p.Gly13Asp)
|
rs1819728208
|
0.00001
|
|
NM_000170.3(GLDC):c.395C>T (p.Ser132Leu)
|
rs386833576
|
0.00001
|
|
NM_000170.3(GLDC):c.396G>A (p.Ser132=)
|
rs542613459
|
0.00001
|
|
NM_000170.3(GLDC):c.398A>G (p.Tyr133Cys)
|
rs751373832
|
0.00001
|
|
NM_000170.3(GLDC):c.437C>T (p.Thr146Met)
|
rs376578742
|
0.00001
|
|
NM_000170.3(GLDC):c.439_441dup (p.Ile147dup)
|
rs1157234920
|
0.00001
|
|
NM_000170.3(GLDC):c.446G>A (p.Arg149Gln)
|
rs538431715
|
0.00001
|
|
NM_000170.3(GLDC):c.470+8A>G
|
rs1428962515
|
0.00001
|
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
|
NM_000170.3(GLDC):c.519G>A (p.Leu173=)
|
rs1384226436
|
0.00001
|
|
NM_000170.3(GLDC):c.51G>T (p.Gly17=)
|
rs947785805
|
0.00001
|
|
NM_000170.3(GLDC):c.528A>C (p.Leu176Phe)
|
rs757566503
|
0.00001
|
|
NM_000170.3(GLDC):c.538C>T (p.Gln180Ter)
|
rs762989914
|
0.00001
|
|
NM_000170.3(GLDC):c.544A>G (p.Met182Val)
|
rs541691467
|
0.00001
|
|
NM_000170.3(GLDC):c.588G>A (p.Leu196=)
|
rs1324658907
|
0.00001
|
|
NM_000170.3(GLDC):c.589C>G (p.Leu197Val)
|
rs1461615694
|
0.00001
|
|
NM_000170.3(GLDC):c.60C>T (p.Arg20=)
|
rs1162699082
|
0.00001
|
|
NM_000170.3(GLDC):c.635+18G>C
|
rs199569891
|
0.00001
|
|
NM_000170.3(GLDC):c.635+8G>C
|
rs760774268
|
0.00001
|
|
NM_000170.3(GLDC):c.637C>A (p.His213Asn)
|
rs1210682949
|
0.00001
|
|
NM_000170.3(GLDC):c.63C>A (p.Arg21=)
|
rs372141443
|
0.00001
|
|
NM_000170.3(GLDC):c.646A>G (p.Arg216Gly)
|
rs140411475
|
0.00001
|
|
NM_000170.3(GLDC):c.662T>C (p.Val221Ala)
|
rs1313892401
|
0.00001
|
|
NM_000170.3(GLDC):c.668C>G (p.Pro223Arg)
|
rs201049516
|
0.00001
|
|
NM_000170.3(GLDC):c.669C>T (p.Pro223=)
|
rs748556946
|
0.00001
|
|
NM_000170.3(GLDC):c.67G>A (p.Ala23Thr)
|
rs978322077
|
0.00001
|
|
NM_000170.3(GLDC):c.687A>G (p.Thr229=)
|
rs772572634
|
0.00001
|
|
NM_000170.3(GLDC):c.713+16C>T
|
rs749690567
|
0.00001
|
|
NM_000170.3(GLDC):c.714-13T>G
|
rs1453203047
|
0.00001
|
|
NM_000170.3(GLDC):c.714-2A>G
|
rs1170385434
|
0.00001
|
|
NM_000170.3(GLDC):c.729C>T (p.Leu243=)
|
rs1372919732
|
0.00001
|
|
NM_000170.3(GLDC):c.787T>C (p.Leu263=)
|
rs1322312349
|
0.00001
|
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
|
NM_000170.3(GLDC):c.800C>T (p.Pro267Leu)
|
rs138484426
|
0.00001
|
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
|
NM_000170.3(GLDC):c.816G>A (p.Lys272=)
|
rs771125415
|
0.00001
|
|
NM_000170.3(GLDC):c.831G>A (p.Thr277=)
|
rs369824891
|
0.00001
|
|
NM_000170.3(GLDC):c.837C>G (p.Leu279=)
|
rs755904706
|
0.00001
|
|
NM_000170.3(GLDC):c.838G>A (p.Val280Met)
|
rs1258949524
|
0.00001
|
|
NM_000170.3(GLDC):c.861+10C>T
|
rs565335444
|
0.00001
|
|
NM_000170.3(GLDC):c.861+20G>A
|
rs762609731
|
0.00001
|
|
NM_000170.3(GLDC):c.862-14C>T
|
rs1202842146
|
0.00001
|
|
NM_000170.3(GLDC):c.862-16C>G
|
rs780268150
|
0.00001
|
|
NM_000170.3(GLDC):c.862-4C>A
|
rs768905756
|
0.00001
|
|
NM_000170.3(GLDC):c.862-8C>T
|
rs1275195194
|
0.00001
|
|
NM_000170.3(GLDC):c.868G>A (p.Ala290Thr)
|
rs1436719669
|
0.00001
|
|
NM_000170.3(GLDC):c.907A>T (p.Arg303Trp)
|
rs753551054
|
0.00001
|
|
NM_000170.3(GLDC):c.915T>C (p.Pro305=)
|
rs1478814212
|
0.00001
|
|
NM_000170.3(GLDC):c.940C>T (p.Leu314=)
|
rs1350558805
|
0.00001
|
|
NM_000170.3(GLDC):c.959T>G (p.Phe320Cys)
|
rs773173613
|
0.00001
|
|
NM_000170.3(GLDC):c.969A>G (p.Pro323=)
|
rs748143417
|
0.00001
|
|
NM_000170.3(GLDC):c.96G>T (p.Pro32=)
|
rs1430526811
|
0.00001
|
|
NM_000170.3(GLDC):c.972G>A (p.Leu324=)
|
rs754536865
|
0.00001
|
|
NM_000170.3(GLDC):c.990T>C (p.His330=)
|
rs1329493716
|
0.00001
|
|
NM_000182.5(HADHA):c.110-7T>C
|
rs551019555
|
0.00001
|
|
NM_000182.5(HADHA):c.1128C>T (p.Ile376=)
|
rs765101895
|
0.00001
|
|
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter)
|
rs137852770
|
0.00001
|
|
NM_000182.5(HADHA):c.1140C>T (p.Ser380=)
|
rs199727889
|
0.00001
|
|
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)
|
rs1243779049
|
0.00001
|
|
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln)
|
rs200715496
|
0.00001
|
|
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)
|
rs1057516461
|
0.00001
|
|
NM_000182.5(HADHA):c.1245A>G (p.Lys415=)
|
rs1669827760
|
0.00001
|
|
NM_000182.5(HADHA):c.1323C>T (p.Ala441=)
|
rs1288347890
|
0.00001
|
|
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val)
|
rs751092349
|
0.00001
|
|
NM_000182.5(HADHA):c.1332G>A (p.Val444=)
|
rs1669824778
|
0.00001
|
|
NM_000182.5(HADHA):c.1389A>G (p.Glu463=)
|
rs772078762
|
0.00001
|
|
NM_000182.5(HADHA):c.1392+7A>G
|
rs757442432
|
0.00001
|
|
NM_000182.5(HADHA):c.1407C>T (p.His469=)
|
rs776013887
|
0.00001
|
|
NM_000182.5(HADHA):c.1434T>C (p.Ala478=)
|
rs780854216
|
0.00001
|
|
NM_000182.5(HADHA):c.1488C>A (p.Gly496=)
|
rs138750492
|
0.00001
|
|
NM_000182.5(HADHA):c.1524G>A (p.Leu508=)
|
rs748881184
|
0.00001
|
|
NM_000182.5(HADHA):c.1539G>A (p.Thr513=)
|
rs755287314
|
0.00001
|
|
NM_000182.5(HADHA):c.1599G>A (p.Gly533=)
|
rs773993179
|
0.00001
|
|
NM_000182.5(HADHA):c.1621-7T>C
|
rs774272303
|
0.00001
|
|
NM_000182.5(HADHA):c.1675A>G (p.Ile559Val)
|
rs780480297
|
0.00001
|
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
|
NM_000182.5(HADHA):c.1704G>A (p.Pro568=)
|
rs543883463
|
0.00001
|
|
NM_000182.5(HADHA):c.1755C>T (p.Ala585=)
|
rs921898736
|
0.00001
|
|
NM_000182.5(HADHA):c.1758A>C (p.Thr586=)
|
rs974621601
|
0.00001
|
|
NM_000182.5(HADHA):c.180+19A>G
|
rs367919663
|
0.00001
|
|
NM_000182.5(HADHA):c.1800G>A (p.Ala600=)
|
rs771364967
|
0.00001
|
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
|
NM_000182.5(HADHA):c.1854G>C (p.Leu618=)
|
rs201393639
|
0.00001
|
|
NM_000182.5(HADHA):c.1886-8T>C
|
rs749138340
|
0.00001
|
|
NM_000182.5(HADHA):c.189A>G (p.Thr63=)
|
rs748187062
|
0.00001
|
|
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)
|
rs796051971
|
0.00001
|
|
NM_000182.5(HADHA):c.1939G>C (p.Asp647His)
|
rs1669533378
|
0.00001
|
|
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly)
|
rs1214955457
|
0.00001
|
|
NM_000182.5(HADHA):c.2000+8C>T
|
rs750784743
|
0.00001
|
|
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly)
|
rs1669530550
|
0.00001
|
|
NM_000182.5(HADHA):c.2016C>T (p.Asp672=)
|
rs1669506916
|
0.00001
|
|
NM_000182.5(HADHA):c.201G>A (p.Glu67=)
|
rs1574626650
|
0.00001
|
|
NM_000182.5(HADHA):c.2022G>A (p.Gln674=)
|
rs1479427836
|
0.00001
|
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
|
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)
|
rs200438844
|
0.00001
|
|
NM_000182.5(HADHA):c.2112C>T (p.Ala704=)
|
rs754294789
|
0.00001
|
|
NM_000182.5(HADHA):c.2121G>C (p.Gly707=)
|
rs374503588
|
0.00001
|
|
NM_000182.5(HADHA):c.2146+9C>T
|
rs776491880
|
0.00001
|
|
NM_000182.5(HADHA):c.2147-19G>C
|
rs367910392
|
0.00001
|
|
NM_000182.5(HADHA):c.2148G>C (p.Gly716=)
|
rs1271662796
|
0.00001
|
|
NM_000182.5(HADHA):c.2156G>A (p.Arg719His)
|
rs751955844
|
0.00001
|
|
NM_000182.5(HADHA):c.2169G>T (p.Leu723=)
|
rs1352996721
|
0.00001
|
|
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr)
|
rs143434901
|
0.00001
|
|
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu)
|
rs1348209738
|
0.00001
|
|
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter)
|
rs1322871046
|
0.00001
|
|
NM_000182.5(HADHA):c.2208T>C (p.Tyr736=)
|
rs774114061
|
0.00001
|
|
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr)
|
rs1281408938
|
0.00001
|
|
NM_000182.5(HADHA):c.264C>T (p.Ala88=)
|
rs755713464
|
0.00001
|
|
NM_000182.5(HADHA):c.27C>T (p.Ile9=)
|
rs1453533016
|
0.00001
|
|
NM_000182.5(HADHA):c.285A>T (p.Pro95=)
|
rs1483582925
|
0.00001
|
|
NM_000182.5(HADHA):c.315-1G>A
|
rs1458898996
|
0.00001
|
|
NM_000182.5(HADHA):c.324C>T (p.Ala108=)
|
rs559608103
|
0.00001
|
|
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg)
|
rs145798498
|
0.00001
|
|
NM_000182.5(HADHA):c.363A>G (p.Gln121=)
|
rs199639645
|
0.00001
|
|
NM_000182.5(HADHA):c.425A>G (p.Asn142Ser)
|
rs200549951
|
0.00001
|
|
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn)
|
rs1347586924
|
0.00001
|
|
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp)
|
rs746937892
|
0.00001
|
|
NM_000182.5(HADHA):c.552C>A (p.Gly184=)
|
rs997810898
|
0.00001
|
|
NM_000182.5(HADHA):c.573+16C>T
|
rs372317291
|
0.00001
|
|
NM_000182.5(HADHA):c.573+9A>G
|
rs1419666935
|
0.00001
|
|
NM_000182.5(HADHA):c.67+17G>C
|
rs574255291
|
0.00001
|
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
|
NM_000182.5(HADHA):c.676+10A>G
|
rs746940690
|
0.00001
|
|
NM_000182.5(HADHA):c.708A>G (p.Thr236=)
|
rs769619183
|
0.00001
|
|
NM_000182.5(HADHA):c.720A>C (p.Leu240=)
|
rs147042247
|
0.00001
|
|
NM_000182.5(HADHA):c.751C>T (p.Leu251=)
|
rs778945181
|
0.00001
|
|
NM_000182.5(HADHA):c.768C>T (p.Ile256=)
|
rs1245138981
|
0.00001
|
|
NM_000182.5(HADHA):c.800-15C>T
|
rs1057523518
|
0.00001
|
|
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr)
|
rs369774960
|
0.00001
|
|
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr)
|
rs137852774
|
0.00001
|
|
NM_000182.5(HADHA):c.924A>G (p.Val308=)
|
rs556893283
|
0.00001
|
|
NM_000182.5(HADHA):c.976-7T>G
|
rs1670058905
|
0.00001
|
|
NM_000182.5(HADHA):c.981T>C (p.Phe327=)
|
rs775800474
|
0.00001
|
|
NM_000187.4(HGD):c.1007-2A>T
|
rs1559781702
|
0.00001
|
|
NM_000187.4(HGD):c.1078G>C (p.Gly360Arg)
|
rs368717991
|
0.00001
|
|
NM_000187.4(HGD):c.1107C>A (p.Thr369=)
|
rs1165278353
|
0.00001
|
|
NM_000187.4(HGD):c.1110C>A (p.Pro370=)
|
rs760307527
|
0.00001
|
|
NM_000187.4(HGD):c.1188+1G>A
|
rs760206323
|
0.00001
|
|
NM_000187.4(HGD):c.11T>A (p.Leu4Ter)
|
rs786204422
|
0.00001
|
|
NM_000187.4(HGD):c.120T>C (p.Tyr40=)
|
rs369064890
|
0.00001
|
|
NM_000187.4(HGD):c.1335T>C (p.Asn445=)
|
rs187614203
|
0.00001
|
|
NM_000187.4(HGD):c.157C>T (p.Arg53Trp)
|
rs759435977
|
0.00001
|
|
NM_000187.4(HGD):c.168T>C (p.Asn56=)
|
rs773277281
|
0.00001
|
|
NM_000187.4(HGD):c.27A>T (p.Gly9=)
|
rs780784207
|
0.00001
|
|
NM_000187.4(HGD):c.288A>G (p.Arg96=)
|
rs776344570
|
0.00001
|
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
|
NM_000187.4(HGD):c.307C>A (p.Pro103Thr)
|
rs559502955
|
0.00001
|
|
NM_000187.4(HGD):c.327A>G (p.Lys109=)
|
rs774514092
|
0.00001
|
|
NM_000187.4(HGD):c.343-5C>T
|
rs779590565
|
0.00001
|
|
NM_000187.4(HGD):c.343G>C (p.Gly115Arg)
|
rs755734596
|
0.00001
|
|
NM_000187.4(HGD):c.390G>T (p.Gly130=)
|
rs774183442
|
0.00001
|
|
NM_000187.4(HGD):c.473C>T (p.Pro158Leu)
|
rs375396766
|
0.00001
|
|
NM_000187.4(HGD):c.540C>T (p.Cys180=)
|
rs1447439273
|
0.00001
|
|
NM_000187.4(HGD):c.561G>A (p.Arg187=)
|
rs1436826620
|
0.00001
|
|
NM_000187.4(HGD):c.612T>C (p.Tyr204=)
|
rs765182260
|
0.00001
|
|
NM_000187.4(HGD):c.673C>T (p.Arg225Cys)
|
rs756789146
|
0.00001
|
|
NM_000187.4(HGD):c.674G>A (p.Arg225His)
|
rs562853291
|
0.00001
|
|
NM_000187.4(HGD):c.682T>C (p.Leu228=)
|
rs1282585373
|
0.00001
|
|
NM_000187.4(HGD):c.702T>C (p.Tyr234=)
|
rs771518151
|
0.00001
|
|
NM_000187.4(HGD):c.710G>A (p.Arg237His)
|
rs866509210
|
0.00001
|
|
NM_000187.4(HGD):c.810G>A (p.Gly270=)
|
rs1940985320
|
0.00001
|
|
NM_000187.4(HGD):c.816T>C (p.Tyr272=)
|
rs1036188406
|
0.00001
|
|
NM_000187.4(HGD):c.821C>T (p.Pro274Leu)
|
rs1397264922
|
0.00001
|
|
NM_000187.4(HGD):c.834C>T (p.Asn278=)
|
rs1194280787
|
0.00001
|
|
NM_000187.4(HGD):c.879+9G>T
|
rs915477284
|
0.00001
|
|
NM_000187.4(HGD):c.880-5C>T
|
rs746239685
|
0.00001
|
|
NM_000187.4(HGD):c.912G>A (p.Lys304=)
|
rs1189623213
|
0.00001
|
|
NM_000187.4(HGD):c.915T>C (p.Ser305=)
|
rs144158342
|
0.00001
|
|
NM_000187.4(HGD):c.967G>A (p.Gly323Arg)
|
rs762564483
|
0.00001
|
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
|
NM_000191.3(HMGCL):c.141A>G (p.Glu47=)
|
rs776280224
|
0.00001
|
|
NM_000191.3(HMGCL):c.144+1G>A
|
rs1638698732
|
0.00001
|
|
NM_000191.3(HMGCL):c.145-4A>G
|
rs963436984
|
0.00001
|
|
NM_000191.3(HMGCL):c.159T>A (p.Thr53=)
|
rs1638634324
|
0.00001
|
|
NM_000191.3(HMGCL):c.252+17A>G
|
rs773700977
|
0.00001
|
|
NM_000191.3(HMGCL):c.27G>T (p.Pro9=)
|
rs1337954372
|
0.00001
|
|
NM_000191.3(HMGCL):c.30G>A (p.Arg10=)
|
rs1284448239
|
0.00001
|
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
|
NM_000191.3(HMGCL):c.339C>T (p.Phe113=)
|
rs112352538
|
0.00001
|
|
NM_000191.3(HMGCL):c.345A>C (p.Ala115=)
|
rs761706911
|
0.00001
|
|
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)
|
rs368145582
|
0.00001
|
|
NM_000191.3(HMGCL):c.348+7G>A
|
rs746088233
|
0.00001
|
|
NM_000191.3(HMGCL):c.349-10A>T
|
rs755304948
|
0.00001
|
|
NM_000191.3(HMGCL):c.390C>T (p.Ala130=)
|
rs141872588
|
0.00001
|
|
NM_000191.3(HMGCL):c.399C>T (p.Leu133=)
|
rs760474502
|
0.00001
|
|
NM_000191.3(HMGCL):c.441T>C (p.Phe147=)
|
rs777819749
|
0.00001
|
|
NM_000191.3(HMGCL):c.471G>A (p.Ala157=)
|
rs758118156
|
0.00001
|
|
NM_000191.3(HMGCL):c.477A>C (p.Ser159=)
|
rs1304272931
|
0.00001
|
|
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln)
|
rs199587895
|
0.00001
|
|
NM_000191.3(HMGCL):c.498-14_498-13del
|
rs753940756
|
0.00001
|
|
NM_000191.3(HMGCL):c.498-7C>T
|
rs764007608
|
0.00001
|
|
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)
|
rs200189529
|
0.00001
|
|
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)
|
rs759288306
|
0.00001
|
|
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)
|
rs747529727
|
0.00001
|
|
NM_000191.3(HMGCL):c.561+20C>T
|
rs781059597
|
0.00001
|
|
NM_000191.3(HMGCL):c.561+7G>A
|
rs773091131
|
0.00001
|
|
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
|
rs1303119110
|
0.00001
|
|
NM_000191.3(HMGCL):c.60+7G>A
|
rs368461149
|
0.00001
|
|
NM_000191.3(HMGCL):c.624G>A (p.Val208=)
|
rs747724373
|
0.00001
|
|
NM_000191.3(HMGCL):c.687C>T (p.Ala229=)
|
rs1638447338
|
0.00001
|
|
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
|
rs990313450
|
0.00001
|
|
NM_000191.3(HMGCL):c.711C>T (p.Thr237=)
|
rs754976763
|
0.00001
|
|
NM_000191.3(HMGCL):c.735C>A (p.Thr245=)
|
rs202074025
|
0.00001
|
|
NM_000191.3(HMGCL):c.750+8A>G
|
rs771868826
|
0.00001
|
|
NM_000191.3(HMGCL):c.762T>C (p.Ser254=)
|
rs983682054
|
0.00001
|
|
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)
|
rs764238653
|
0.00001
|
|
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)
|
rs750347526
|
0.00001
|
|
NM_000191.3(HMGCL):c.816A>T (p.Ala272=)
|
rs141340718
|
0.00001
|
|
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)
|
rs1391067821
|
0.00001
|
|
NM_000191.3(HMGCL):c.825C>T (p.Asn275=)
|
rs1287973337
|
0.00001
|
|
NM_000191.3(HMGCL):c.84T>C (p.Thr28=)
|
rs752969194
|
0.00001
|
|
NM_000191.3(HMGCL):c.858G>A (p.Glu286=)
|
rs376715568
|
0.00001
|
|
NM_000191.3(HMGCL):c.876+20G>A
|
rs749917434
|
0.00001
|
|
NM_000191.3(HMGCL):c.90A>G (p.Pro30=)
|
rs767787302
|
0.00001
|
|
NM_000191.3(HMGCL):c.921T>C (p.Cys307=)
|
rs777324642
|
0.00001
|
|
NM_000191.3(HMGCL):c.977G>A (p.Ter326=)
|
rs1303767209
|
0.00001
|
|
NM_000240.4(MAOA):c.1153G>A (p.Glu385Lys)
|
rs778306070
|
0.00001
|
|
NM_000240.4(MAOA):c.1165-11C>T
|
rs948692153
|
0.00001
|
|
NM_000240.4(MAOA):c.1223C>T (p.Thr408Met)
|
rs2033963856
|
0.00001
|
|
NM_000240.4(MAOA):c.1488C>G (p.Pro496=)
|
rs1569203097
|
0.00001
|
|
NM_000240.4(MAOA):c.1545G>T (p.Gly515=)
|
rs1223537199
|
0.00001
|
|
NM_000240.4(MAOA):c.260A>G (p.Glu87Gly)
|
rs747229681
|
0.00001
|
|
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp)
|
rs140295792
|
0.00001
|
|
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
|
rs755919316
|
0.00001
|
|
NM_000240.4(MAOA):c.816G>A (p.Ala272=)
|
rs751223564
|
0.00001
|
|
NM_000254.3(MTR):c.1071G>A (p.Leu357=)
|
rs771474135
|
0.00001
|
|
NM_000254.3(MTR):c.1074T>C (p.Ser358=)
|
rs1430063160
|
0.00001
|
|
NM_000254.3(MTR):c.1076-16T>C
|
rs1363188046
|
0.00001
|
|
NM_000254.3(MTR):c.108G>A (p.Gly36=)
|
rs1057523951
|
0.00001
|
|
NM_000254.3(MTR):c.127C>T (p.Arg43Trp)
|
rs757720946
|
0.00001
|
|
NM_000254.3(MTR):c.1311C>T (p.Ser437=)
|
rs777192214
|
0.00001
|
|
NM_000254.3(MTR):c.1329+15A>G
|
rs752303010
|
0.00001
|
|
NM_000254.3(MTR):c.1425G>A (p.Lys475=)
|
rs1464958347
|
0.00001
|
|
NM_000254.3(MTR):c.1483A>G (p.Met495Val)
|
rs775291294
|
0.00001
|
|
NM_000254.3(MTR):c.1566G>C (p.Leu522=)
|
rs779536088
|
0.00001
|
|
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala)
|
rs1663831931
|
0.00001
|
|
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp)
|
rs151031178
|
0.00001
|
|
NM_000254.3(MTR):c.1657T>C (p.Tyr553His)
|
rs767156705
|
0.00001
|
|
NM_000254.3(MTR):c.1695+15G>A
|
rs750838511
|
0.00001
|
|
NM_000254.3(MTR):c.1743C>T (p.Ser581=)
|
rs758784869
|
0.00001
|
|
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)
|
rs121913580
|
0.00001
|
|
NM_000254.3(MTR):c.1812+1G>A
|
rs778242201
|
0.00001
|
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
|
NM_000254.3(MTR):c.1954-6A>G
|
rs1553321372
|
0.00001
|
|
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys)
|
rs150058137
|
0.00001
|
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
|
NM_000254.3(MTR):c.2101del (p.Tyr701fs)
|
rs762727293
|
0.00001
|
|
NM_000254.3(MTR):c.2294T>C (p.Val765Ala)
|
rs931972359
|
0.00001
|
|
NM_000254.3(MTR):c.2304+4A>G
|
rs778478523
|
0.00001
|
|
NM_000254.3(MTR):c.2329C>G (p.Leu777Val)
|
rs758778075
|
0.00001
|
|
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr)
|
rs147387989
|
0.00001
|
|
NM_000254.3(MTR):c.2422G>A (p.Val808Ile)
|
rs745749921
|
0.00001
|
|
NM_000254.3(MTR):c.2446C>T (p.Leu816=)
|
rs1458770538
|
0.00001
|
|
NM_000254.3(MTR):c.2454T>C (p.Ala818=)
|
rs769066955
|
0.00001
|
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
|
NM_000254.3(MTR):c.2594+3A>G
|
rs757969059
|
0.00001
|
|
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly)
|
rs149165917
|
0.00001
|
|
NM_000254.3(MTR):c.2763T>C (p.Tyr921=)
|
rs989945025
|
0.00001
|
|
NM_000254.3(MTR):c.2775+19T>C
|
rs1416410897
|
0.00001
|
|
NM_000254.3(MTR):c.2776-16C>T
|
rs770223976
|
0.00001
|
|
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys)
|
rs1416094227
|
0.00001
|
|
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys)
|
rs773190246
|
0.00001
|
|
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu)
|
rs772400119
|
0.00001
|
|
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg)
|
rs755595867
|
0.00001
|
|
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr)
|
rs1474412109
|
0.00001
|
|
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr)
|
rs756706737
|
0.00001
|
|
NM_000254.3(MTR):c.3205-196A>G
|
rs544410324
|
0.00001
|
|
NM_000254.3(MTR):c.325G>A (p.Gly109Ser)
|
rs746836137
|
0.00001
|
|
NM_000254.3(MTR):c.3281G>A (p.Arg1094His)
|
rs764803333
|
0.00001
|
|
NM_000254.3(MTR):c.3315T>C (p.Phe1105=)
|
rs1221565565
|
0.00001
|
|
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val)
|
rs759436870
|
0.00001
|
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
|
NM_000254.3(MTR):c.34+13C>A
|
rs370004550
|
0.00001
|
|
NM_000254.3(MTR):c.340-166A>G
|
rs1661117141
|
0.00001
|
|
NM_000254.3(MTR):c.340-3T>C
|
rs772591750
|
0.00001
|
|
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly)
|
rs781725496
|
0.00001
|
|
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter)
|
rs201718371
|
0.00001
|
|
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser)
|
rs1188027807
|
0.00001
|
|
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly)
|
rs369154176
|
0.00001
|
|
NM_000254.3(MTR):c.347G>A (p.Arg116Gln)
|
rs1414249194
|
0.00001
|
|
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys)
|
rs761657622
|
0.00001
|
|
NM_000254.3(MTR):c.3516C>T (p.Arg1172=)
|
rs750050502
|
0.00001
|
|
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg)
|
rs779312137
|
0.00001
|
|
NM_000254.3(MTR):c.443C>T (p.Pro148Leu)
|
rs757429726
|
0.00001
|
|
NM_000254.3(MTR):c.444G>A (p.Pro148=)
|
rs778868012
|
0.00001
|
|
NM_000254.3(MTR):c.586A>G (p.Ile196Val)
|
rs776426879
|
0.00001
|
|
NM_000254.3(MTR):c.669+11A>C
|
rs773271317
|
0.00001
|
|
NM_000254.3(MTR):c.712G>A (p.Gly238Arg)
|
rs934470002
|
0.00001
|
|
NM_000254.3(MTR):c.755A>G (p.Glu252Gly)
|
rs758776466
|
0.00001
|
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
|
NM_000274.4(OAT):c.1005A>G (p.Ala335=)
|
rs763750788
|
0.00001
|
|
NM_000274.4(OAT):c.1014+10G>C
|
rs185123140
|
0.00001
|
|
NM_000274.4(OAT):c.1090C>T (p.Pro364Ser)
|
rs1195438970
|
0.00001
|
|
NM_000274.4(OAT):c.1135G>A (p.Ala379Thr)
|
rs1408984206
|
0.00001
|
|
NM_000274.4(OAT):c.1137T>G (p.Ala379=)
|
rs1390940241
|
0.00001
|
|
NM_000274.4(OAT):c.1160-12A>G
|
rs892494276
|
0.00001
|
|
NM_000274.4(OAT):c.1165G>T (p.Asp389Tyr)
|
rs1281980374
|
0.00001
|
|
NM_000274.4(OAT):c.1166A>G (p.Asp389Gly)
|
rs1414573089
|
0.00001
|
|
NM_000274.4(OAT):c.117C>G (p.Thr39=)
|
rs1171989360
|
0.00001
|
|
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)
|
rs200068769
|
0.00001
|
|
NM_000274.4(OAT):c.1208T>C (p.Leu403Pro)
|
rs141737170
|
0.00001
|
|
NM_000274.4(OAT):c.1286T>C (p.Ile429Thr)
|
rs774831749
|
0.00001
|
|
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)
|
rs386833598
|
0.00001
|
|
NM_000274.4(OAT):c.147G>A (p.Lys49=)
|
rs1234365587
|
0.00001
|
|
NM_000274.4(OAT):c.149A>G (p.Tyr50Cys)
|
rs936463102
|
0.00001
|
|
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)
|
rs121965048
|
0.00001
|
|
NM_000274.4(OAT):c.166C>T (p.His56Tyr)
|
rs1228173312
|
0.00001
|
|
NM_000274.4(OAT):c.181G>T (p.Ala61Ser)
|
rs369213619
|
0.00001
|
|
NM_000274.4(OAT):c.199+20G>A
|
rs746812237
|
0.00001
|
|
NM_000274.4(OAT):c.200-9G>A
|
rs1412655303
|
0.00001
|
|
NM_000274.4(OAT):c.225C>A (p.Gly75=)
|
rs768034800
|
0.00001
|
|
NM_000274.4(OAT):c.264C>T (p.Val88=)
|
rs1951678319
|
0.00001
|
|
NM_000274.4(OAT):c.322T>C (p.Leu108=)
|
rs756421829
|
0.00001
|
|
NM_000274.4(OAT):c.327C>G (p.Thr109=)
|
rs1409185490
|
0.00001
|
|
NM_000274.4(OAT):c.354C>T (p.Asn118=)
|
rs532722603
|
0.00001
|
|
NM_000274.4(OAT):c.416T>G (p.Met139Arg)
|
rs1043163922
|
0.00001
|
|
NM_000274.4(OAT):c.429G>A (p.Val143=)
|
rs1041076477
|
0.00001
|
|
NM_000274.4(OAT):c.461G>A (p.Arg154His)
|
rs121965039
|
0.00001
|
|
NM_000274.4(OAT):c.49G>A (p.Gly17Arg)
|
rs760716065
|
0.00001
|
|
NM_000274.4(OAT):c.520+10A>C
|
rs747375268
|
0.00001
|
|
NM_000274.4(OAT):c.520+18T>G
|
rs778035963
|
0.00001
|
|
NM_000274.4(OAT):c.520+7G>A
|
rs369858071
|
0.00001
|
|
NM_000274.4(OAT):c.58T>A (p.Ser20Thr)
|
rs1046309017
|
0.00001
|
|
NM_000274.4(OAT):c.606G>A (p.Pro202=)
|
rs369806549
|
0.00001
|
|
NM_000274.4(OAT):c.615C>T (p.Asp205=)
|
rs144823472
|
0.00001
|
|
NM_000274.4(OAT):c.633T>G (p.Asp211Glu)
|
rs755162030
|
0.00001
|
|
NM_000274.4(OAT):c.636G>T (p.Leu212=)
|
rs1951546849
|
0.00001
|
|
NM_000274.4(OAT):c.639C>T (p.Pro213=)
|
rs773314783
|
0.00001
|
|
NM_000274.4(OAT):c.648+12G>A
|
rs772528371
|
0.00001
|
|
NM_000274.4(OAT):c.675T>C (p.Ala225=)
|
rs1951496845
|
0.00001
|
|
NM_000274.4(OAT):c.677C>T (p.Ala226Val)
|
rs121965059
|
0.00001
|
|
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)
|
rs386833615
|
0.00001
|
|
NM_000274.4(OAT):c.720T>C (p.Val240=)
|
rs758197065
|
0.00001
|
|
NM_000274.4(OAT):c.721_722dup (p.Asp242fs)
|
rs1468939642
|
0.00001
|
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
|
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)
|
rs386833617
|
0.00001
|
|
NM_000274.4(OAT):c.772-4A>G
|
rs777129550
|
0.00001
|
|
NM_000274.4(OAT):c.78A>G (p.Thr26=)
|
rs1205048472
|
0.00001
|
|
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)
|
rs1951458291
|
0.00001
|
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
|
NM_000274.4(OAT):c.823T>A (p.Trp275Arg)
|
rs947658691
|
0.00001
|
|
NM_000274.4(OAT):c.845A>G (p.Asn282Ser)
|
rs956427344
|
0.00001
|
|
NM_000274.4(OAT):c.853C>T (p.Pro285Ser)
|
rs1295048098
|
0.00001
|
|
NM_000274.4(OAT):c.881T>A (p.Leu294His)
|
rs752974288
|
0.00001
|
|
NM_000274.4(OAT):c.90T>C (p.Thr30=)
|
rs1250394805
|
0.00001
|
|
NM_000274.4(OAT):c.939C>A (p.Thr313=)
|
rs1263275234
|
0.00001
|
|
NM_000274.4(OAT):c.951G>A (p.Gly317=)
|
rs1424302227
|
0.00001
|
|
NM_000274.4(OAT):c.952G>A (p.Glu318Lys)
|
rs386833621
|
0.00001
|
|
NM_000274.4(OAT):c.957T>C (p.His319=)
|
rs1162641842
|
0.00001
|
|
NM_000274.4(OAT):c.977A>G (p.Asn326Ser)
|
rs371878605
|
0.00001
|
|
NM_000274.4(OAT):c.991C>T (p.Arg331Ter)
|
rs386833623
|
0.00001
|
|
NM_000274.4(OAT):c.997G>A (p.Ala333Thr)
|
rs1322699067
|
0.00001
|
|
NM_000276.4(OCRL):c.1104C>T (p.Thr368=)
|
rs1457897461
|
0.00001
|
|
NM_000276.4(OCRL):c.115T>C (p.Tyr39His)
|
rs756670728
|
0.00001
|
|
NM_000276.4(OCRL):c.1585G>A (p.Ala529Thr)
|
rs1219583539
|
0.00001
|
|
NM_000276.4(OCRL):c.1603-12A>G
|
rs1440624100
|
0.00001
|
|
NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)
|
rs1278754966
|
0.00001
|
|
NM_000276.4(OCRL):c.1656C>T (p.Arg552=)
|
rs761645724
|
0.00001
|
|
NM_000276.4(OCRL):c.1880-8C>T
|
rs750041502
|
0.00001
|
|
NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)
|
rs768629676
|
0.00001
|
|
NM_000276.4(OCRL):c.1944G>A (p.Ser648=)
|
rs776881376
|
0.00001
|
|
NM_000276.4(OCRL):c.2009C>T (p.Thr670Ile)
|
rs1936370341
|
0.00001
|
|
NM_000276.4(OCRL):c.2115+4A>G
|
rs1326476020
|
0.00001
|
|
NM_000276.4(OCRL):c.2582-9G>A
|
rs2071705
|
0.00001
|
|
NM_000276.4(OCRL):c.39+16A>C
|
rs1242261409
|
0.00001
|
|
NM_000276.4(OCRL):c.52A>G (p.Met18Val)
|
rs779021479
|
0.00001
|
|
NM_000276.4(OCRL):c.560+20A>G
|
rs767279122
|
0.00001
|
|
NM_000276.4(OCRL):c.768C>T (p.Ser256=)
|
rs1368090073
|
0.00001
|
|
NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)
|
rs762676076
|
0.00001
|
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
|
NM_000277.3(PAH):c.1026A>G (p.Ala342=)
|
rs766756246
|
0.00001
|
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
|
NM_000277.3(PAH):c.1041C>T (p.Leu347=)
|
rs1233192488
|
0.00001
|
|
NM_000277.3(PAH):c.1059A>G (p.Glu353=)
|
rs1403823473
|
0.00001
|
|
NM_000277.3(PAH):c.1066-5T>C
|
rs910131541
|
0.00001
|
|
NM_000277.3(PAH):c.1095C>G (p.Leu365=)
|
rs747661840
|
0.00001
|
|
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu)
|
rs62516098
|
0.00001
|
|
NM_000277.3(PAH):c.1101G>A (p.Leu367=)
|
rs62508648
|
0.00001
|
|
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg)
|
rs1874694173
|
0.00001
|
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
|
NM_000277.3(PAH):c.1185C>A (p.Ala395=)
|
rs760256025
|
0.00001
|
|
NM_000277.3(PAH):c.1188G>A (p.Lys396=)
|
rs772683682
|
0.00001
|
|
NM_000277.3(PAH):c.1199+17G>A
|
rs62508613
|
0.00001
|
|
NM_000277.3(PAH):c.1199G>A (p.Arg400Lys)
|
rs199475658
|
0.00001
|
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
|
NM_000277.3(PAH):c.1216A>G (p.Ile406Val)
|
rs749613899
|
0.00001
|
|
NM_000277.3(PAH):c.1251C>T (p.Tyr417=)
|
rs1272159852
|
0.00001
|
|
NM_000277.3(PAH):c.1254C>T (p.Thr418=)
|
rs755787172
|
0.00001
|
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
|
NM_000277.3(PAH):c.1270T>C (p.Leu424=)
|
rs148041893
|
0.00001
|
|
NM_000277.3(PAH):c.1299G>A (p.Leu433=)
|
rs770034263
|
0.00001
|
|
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe)
|
rs1402168594
|
0.00001
|
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
|
NM_000277.3(PAH):c.135T>G (p.Val45=)
|
rs773425620
|
0.00001
|
|
NM_000277.3(PAH):c.140C>T (p.Ala47Val)
|
rs118203925
|
0.00001
|
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
|
NM_000277.3(PAH):c.169-2A>G
|
rs1226613045
|
0.00001
|
|
NM_000277.3(PAH):c.169-9C>G
|
rs747810402
|
0.00001
|
|
NM_000277.3(PAH):c.176A>T (p.Asp59Val)
|
rs199475672
|
0.00001
|
|
NM_000277.3(PAH):c.183C>G (p.Asn61Lys)
|
rs199475634
|
0.00001
|
|
NM_000277.3(PAH):c.193A>G (p.Ile65Val)
|
rs199475643
|
0.00001
|
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
|
NM_000277.3(PAH):c.223G>A (p.Asp75Asn)
|
rs767453024
|
0.00001
|
|
NM_000277.3(PAH):c.231T>C (p.Tyr77=)
|
rs62507332
|
0.00001
|
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
|
NM_000277.3(PAH):c.275C>T (p.Thr92Ile)
|
rs62514903
|
0.00001
|
|
NM_000277.3(PAH):c.281T>G (p.Ile94Ser)
|
rs62508677
|
0.00001
|
|
NM_000277.3(PAH):c.307G>T (p.Gly103Cys)
|
rs752792040
|
0.00001
|
|
NM_000277.3(PAH):c.310_318del (p.Ala104_Val106del)
|
rs398123291
|
0.00001
|
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
|
NM_000277.3(PAH):c.352+10A>G
|
rs559561517
|
0.00001
|
|
NM_000277.3(PAH):c.353-9G>T
|
rs757191681
|
0.00001
|
|
NM_000277.3(PAH):c.356C>T (p.Pro119Leu)
|
rs374999809
|
0.00001
|
|
NM_000277.3(PAH):c.36del (p.Arg13fs)
|
rs1878413079
|
0.00001
|
|
NM_000277.3(PAH):c.386A>G (p.Asp129Gly)
|
rs199475623
|
0.00001
|
|
NM_000277.3(PAH):c.424C>T (p.Leu142=)
|
rs375364629
|
0.00001
|
|
NM_000277.3(PAH):c.42A>G (p.Lys14=)
|
rs759956741
|
0.00001
|
|
NM_000277.3(PAH):c.435C>A (p.Asp145Glu)
|
rs1375045653
|
0.00001
|
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
|
NM_000277.3(PAH):c.441+4A>G
|
rs62508586
|
0.00001
|
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
|
NM_000277.3(PAH):c.450A>G (p.Lys150=)
|
rs749317892
|
0.00001
|
|
NM_000277.3(PAH):c.490A>G (p.Ile164Val)
|
rs199475647
|
0.00001
|
|
NM_000277.3(PAH):c.493G>A (p.Ala165Thr)
|
rs199475626
|
0.00001
|
|
NM_000277.3(PAH):c.499A>T (p.Asn167Tyr)
|
rs1210056131
|
0.00001
|
|
NM_000277.3(PAH):c.505C>T (p.Arg169Cys)
|
rs281865440
|
0.00001
|
|
NM_000277.3(PAH):c.509+18G>T
|
rs749428436
|
0.00001
|
|
NM_000277.3(PAH):c.509+9G>A
|
rs1392904247
|
0.00001
|
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
|
NM_000277.3(PAH):c.513G>T (p.Gly171=)
|
rs143211522
|
0.00001
|
|
NM_000277.3(PAH):c.520A>G (p.Ile174Val)
|
rs199475632
|
0.00001
|
|
NM_000277.3(PAH):c.532G>A (p.Glu178Lys)
|
rs1448720360
|
0.00001
|
|
NM_000277.3(PAH):c.535T>A (p.Tyr179Asn)
|
rs199475671
|
0.00001
|
|
NM_000277.3(PAH):c.545A>G (p.Glu182Gly)
|
rs199475617
|
0.00001
|
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
|
NM_000277.3(PAH):c.569T>C (p.Val190Ala)
|
rs62514919
|
0.00001
|
|
NM_000277.3(PAH):c.60+10G>C
|
rs1878409841
|
0.00001
|
|
NM_000277.3(PAH):c.61-7C>T
|
rs1246404276
|
0.00001
|
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
|
NM_000277.3(PAH):c.612T>C (p.Tyr204=)
|
rs62514928
|
0.00001
|
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
|
NM_000277.3(PAH):c.633A>C (p.Pro211=)
|
rs1347265181
|
0.00001
|
|
NM_000277.3(PAH):c.63A>C (p.Glu21Asp)
|
rs753466976
|
0.00001
|
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
|
NM_000277.3(PAH):c.665A>G (p.Asp222Gly)
|
rs62507319
|
0.00001
|
|
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)
|
rs199475589
|
0.00001
|
|
NM_000277.3(PAH):c.687C>T (p.Asp229=)
|
rs966010608
|
0.00001
|
|
NM_000277.3(PAH):c.693T>C (p.Ser231=)
|
rs1592954345
|
0.00001
|
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
0.00001
|
|
NM_000277.3(PAH):c.702G>A (p.Leu234=)
|
rs993558609
|
0.00001
|
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
|
NM_000277.3(PAH):c.716G>T (p.Gly239Val)
|
rs62507283
|
0.00001
|
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
|
NM_000277.3(PAH):c.737del (p.Ala246fs)
|
rs199475666
|
0.00001
|
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
|
NM_000277.3(PAH):c.771C>T (p.Gly257=)
|
rs544995045
|
0.00001
|
|
NM_000277.3(PAH):c.776C>T (p.Ala259Val)
|
rs118203921
|
0.00001
|
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
|
NM_000277.3(PAH):c.786C>T (p.Val262=)
|
rs776860902
|
0.00001
|
|
NM_000277.3(PAH):c.789C>G (p.Phe263Leu)
|
rs62642944
|
0.00001
|
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
|
NM_000277.3(PAH):c.818C>T (p.Ser273Phe)
|
rs62514953
|
0.00001
|
|
NM_000277.3(PAH):c.825C>T (p.Pro275=)
|
rs1875223145
|
0.00001
|
|
NM_000277.3(PAH):c.828G>A (p.Met276Ile)
|
rs62514954
|
0.00001
|
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
|
NM_000277.3(PAH):c.830A>G (p.Tyr277Cys)
|
rs62516155
|
0.00001
|
|
NM_000277.3(PAH):c.835C>G (p.Pro279Ala)
|
rs1555204441
|
0.00001
|
|
NM_000277.3(PAH):c.842+3G>C
|
rs62507324
|
0.00001
|
|
NM_000277.3(PAH):c.842+8C>T
|
rs747113268
|
0.00001
|
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
|
NM_000277.3(PAH):c.848T>A (p.Ile283Asn)
|
rs62508693
|
0.00001
|
|
NM_000277.3(PAH):c.859C>A (p.Leu287Met)
|
rs781096854
|
0.00001
|
|
NM_000277.3(PAH):c.865G>A (p.Gly289Arg)
|
rs199475693
|
0.00001
|
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
|
NM_000277.3(PAH):c.936T>C (p.Gly312=)
|
rs776778122
|
0.00001
|
|
NM_000277.3(PAH):c.940C>A (p.Pro314Thr)
|
rs199475650
|
0.00001
|
|
NM_000277.3(PAH):c.941C>A (p.Pro314His)
|
rs62642940
|
0.00001
|
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
|
NM_000277.3(PAH):c.969+12C>T
|
rs1874869257
|
0.00001
|
|
NM_000277.3(PAH):c.969+6T>A
|
rs62517196
|
0.00001
|
|
NM_000277.3(PAH):c.970-1G>A
|
rs202183605
|
0.00001
|
|
NM_000277.3(PAH):c.970A>G (p.Ile324Val)
|
rs1221031352
|
0.00001
|
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
|
NM_000281.4(PCBD1):c.179T>C (p.Leu60Pro)
|
rs768330993
|
0.00001
|
|
NM_000281.4(PCBD1):c.204C>T (p.Asn68=)
|
rs778214598
|
0.00001
|
|
NM_000281.4(PCBD1):c.240T>C (p.His80=)
|
rs749751658
|
0.00001
|
|
NM_000281.4(PCBD1):c.249C>T (p.Ala83=)
|
rs148217100
|
0.00001
|
|
NM_000281.4(PCBD1):c.264G>C (p.Arg88=)
|
rs1411706949
|
0.00001
|
|
NM_000281.4(PCBD1):c.289G>A (p.Glu97Lys)
|
rs397518416
|
0.00001
|
|
NM_000281.4(PCBD1):c.294A>G (p.Gln98=)
|
rs773744136
|
0.00001
|
|
NM_000282.4(PCCA):c.105+16G>A
|
rs2046038909
|
0.00001
|
|
NM_000282.4(PCCA):c.106-10T>C
|
rs770940740
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+10A>G
|
rs1428223017
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+12T>A
|
rs1013549378
|
0.00001
|
|
NM_000282.4(PCCA):c.1065+15T>C
|
rs762540382
|
0.00001
|
|
NM_000282.4(PCCA):c.1066-13C>T
|
rs372186963
|
0.00001
|
|
NM_000282.4(PCCA):c.1071G>A (p.Glu357=)
|
rs761295534
|
0.00001
|
|
NM_000282.4(PCCA):c.1089C>T (p.Cys363=)
|
rs766934571
|
0.00001
|
|
NM_000282.4(PCCA):c.1112A>G (p.Gln371Arg)
|
rs752995083
|
0.00001
|
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
|
NM_000282.4(PCCA):c.1123C>T (p.Arg375Cys)
|
rs758588772
|
0.00001
|
|
NM_000282.4(PCCA):c.1124G>A (p.Arg375His)
|
rs778042583
|
0.00001
|
|
NM_000282.4(PCCA):c.1181G>A (p.Trp394Ter)
|
rs1165198558
|
0.00001
|
|
NM_000282.4(PCCA):c.1195C>T (p.Arg399Trp)
|
rs1234167788
|
0.00001
|
|
NM_000282.4(PCCA):c.1196G>A (p.Arg399Gln)
|
rs1301904623
|
0.00001
|
|
NM_000282.4(PCCA):c.1217A>G (p.Tyr406Cys)
|
rs981962098
|
0.00001
|
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
|
NM_000282.4(PCCA):c.1269G>A (p.Pro423=)
|
rs778642206
|
0.00001
|
|
NM_000282.4(PCCA):c.1284+17T>G
|
rs531058073
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-10T>C
|
rs1186262441
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-15C>T
|
rs779554504
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-20T>C
|
rs1227568974
|
0.00001
|
|
NM_000282.4(PCCA):c.1285-5C>T
|
rs773331326
|
0.00001
|
|
NM_000282.4(PCCA):c.1291G>A (p.Val431Met)
|
rs1464775522
|
0.00001
|
|
NM_000282.4(PCCA):c.12C>T (p.Phe4=)
|
rs759257021
|
0.00001
|
|
NM_000282.4(PCCA):c.1326C>T (p.Ser442=)
|
rs934310912
|
0.00001
|
|
NM_000282.4(PCCA):c.1353+16C>T
|
rs573543059
|
0.00001
|
|
NM_000282.4(PCCA):c.1353+18A>G
|
rs369105635
|
0.00001
|
|
NM_000282.4(PCCA):c.1354-10T>C
|
rs750041912
|
0.00001
|
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
|
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val)
|
rs776355907
|
0.00001
|
|
NM_000282.4(PCCA):c.1437A>G (p.Thr479=)
|
rs1224037636
|
0.00001
|
|
NM_000282.4(PCCA):c.1445T>C (p.Ile482Thr)
|
rs1349455848
|
0.00001
|
|
NM_000282.4(PCCA):c.1518T>C (p.Asp506=)
|
rs1214787896
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+15A>C
|
rs372830595
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
|
NM_000282.4(PCCA):c.1540+5G>C
|
rs371430625
|
0.00001
|
|
NM_000282.4(PCCA):c.1541-15A>G
|
rs748759552
|
0.00001
|
|
NM_000282.4(PCCA):c.155G>A (p.Gly52Asp)
|
rs755553674
|
0.00001
|
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
|
NM_000282.4(PCCA):c.1615A>G (p.Arg539Gly)
|
rs2071094349
|
0.00001
|
|
NM_000282.4(PCCA):c.1647G>A (p.Met549Ile)
|
rs759831592
|
0.00001
|
|
NM_000282.4(PCCA):c.1659A>G (p.Lys553=)
|
rs764395477
|
0.00001
|
|
NM_000282.4(PCCA):c.1702A>G (p.Lys568Glu)
|
rs755890592
|
0.00001
|
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
|
NM_000282.4(PCCA):c.1756G>T (p.Asp586Tyr)
|
rs2079091190
|
0.00001
|
|
NM_000282.4(PCCA):c.1764G>A (p.Ser588=)
|
rs772158996
|
0.00001
|
|
NM_000282.4(PCCA):c.177T>A (p.Asn59Lys)
|
rs778065877
|
0.00001
|
|
NM_000282.4(PCCA):c.1785G>A (p.Thr595=)
|
rs766312551
|
0.00001
|
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
|
NM_000282.4(PCCA):c.1800G>A (p.Ser600=)
|
rs761681712
|
0.00001
|
|
NM_000282.4(PCCA):c.1801C>T (p.Pro601Ser)
|
rs752459931
|
0.00001
|
|
NM_000282.4(PCCA):c.1808T>C (p.Leu603Ser)
|
rs1427313509
|
0.00001
|
|
NM_000282.4(PCCA):c.180A>G (p.Glu60=)
|
rs1003935202
|
0.00001
|
|
NM_000282.4(PCCA):c.1818C>T (p.Ser606=)
|
rs763647197
|
0.00001
|
|
NM_000282.4(PCCA):c.1824T>C (p.Asp608=)
|
rs1008553303
|
0.00001
|
|
NM_000282.4(PCCA):c.1828A>T (p.Thr610Ser)
|
rs749767976
|
0.00001
|
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
|
NM_000282.4(PCCA):c.184-5T>C
|
rs780230606
|
0.00001
|
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
|
NM_000282.4(PCCA):c.1879A>G (p.Ile627Val)
|
rs1163083290
|
0.00001
|
|
NM_000282.4(PCCA):c.1886T>G (p.Phe629Cys)
|
rs1400179119
|
0.00001
|
|
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
|
rs796052018
|
0.00001
|
|
NM_000282.4(PCCA):c.1894A>G (p.Thr632Ala)
|
rs376313696
|
0.00001
|
|
NM_000282.4(PCCA):c.1899+7A>G
|
rs950344042
|
0.00001
|
|
NM_000282.4(PCCA):c.1910A>G (p.Asn637Ser)
|
rs149772960
|
0.00001
|
|
NM_000282.4(PCCA):c.1968G>T (p.Glu656Asp)
|
rs891469566
|
0.00001
|
|
NM_000282.4(PCCA):c.1976G>A (p.Ser659Asn)
|
rs764651081
|
0.00001
|
|
NM_000282.4(PCCA):c.1995G>A (p.Pro665=)
|
rs1357780167
|
0.00001
|
|
NM_000282.4(PCCA):c.2001C>T (p.Pro667=)
|
rs778845861
|
0.00001
|
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
|
NM_000282.4(PCCA):c.2010G>A (p.Val670=)
|
rs1343608733
|
0.00001
|
|
NM_000282.4(PCCA):c.202G>A (p.Val68Ile)
|
rs768750176
|
0.00001
|
|
NM_000282.4(PCCA):c.2038G>A (p.Ala680Thr)
|
rs201570489
|
0.00001
|
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
|
NM_000282.4(PCCA):c.2118+10T>C
|
rs1318351775
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-5T>G
|
rs752895575
|
0.00001
|
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
|
NM_000282.4(PCCA):c.2136T>C (p.Cys712=)
|
rs781085655
|
0.00001
|
|
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)
|
rs794727479
|
0.00001
|
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
|
NM_000282.4(PCCA):c.231+8G>A
|
rs199996461
|
0.00001
|
|
NM_000282.4(PCCA):c.297T>G (p.Ser99Arg)
|
rs1203679401
|
0.00001
|
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
|
NM_000282.4(PCCA):c.30G>T (p.Pro10=)
|
rs1206173421
|
0.00001
|
|
NM_000282.4(PCCA):c.376G>A (p.Ala126Thr)
|
rs1482878054
|
0.00001
|
|
NM_000282.4(PCCA):c.405G>A (p.Arg135=)
|
rs996873957
|
0.00001
|
|
NM_000282.4(PCCA):c.414+7C>G
|
rs1051098122
|
0.00001
|
|
NM_000282.4(PCCA):c.415-2A>C
|
rs746286209
|
0.00001
|
|
NM_000282.4(PCCA):c.432A>G (p.Gly144=)
|
rs768756825
|
0.00001
|
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
|
NM_000282.4(PCCA):c.453A>G (p.Glu151=)
|
rs897110640
|
0.00001
|
|
NM_000282.4(PCCA):c.469G>T (p.Ala157Ser)
|
rs772068496
|
0.00001
|
|
NM_000282.4(PCCA):c.472G>T (p.Ala158Ser)
|
rs773032396
|
0.00001
|
|
NM_000282.4(PCCA):c.54G>A (p.Gly18=)
|
rs1373903905
|
0.00001
|
|
NM_000282.4(PCCA):c.570T>C (p.Asn190=)
|
rs747026505
|
0.00001
|
|
NM_000282.4(PCCA):c.601-13C>T
|
rs1367838556
|
0.00001
|
|
NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)
|
rs1367928921
|
0.00001
|
|
NM_000282.4(PCCA):c.637+18C>A
|
rs758676556
|
0.00001
|
|
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn)
|
rs749118295
|
0.00001
|
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
|
NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)
|
rs1566436392
|
0.00001
|
|
NM_000282.4(PCCA):c.704A>G (p.Asp235Gly)
|
rs760244758
|
0.00001
|
|
NM_000282.4(PCCA):c.709G>A (p.Glu237Lys)
|
rs770371734
|
0.00001
|
|
NM_000282.4(PCCA):c.717-8T>C
|
rs1367148068
|
0.00001
|
|
NM_000282.4(PCCA):c.762C>T (p.Gly254=)
|
rs758211858
|
0.00001
|
|
NM_000282.4(PCCA):c.778A>C (p.Ile260Leu)
|
rs769286299
|
0.00001
|
|
NM_000282.4(PCCA):c.819+19C>G
|
rs1566819775
|
0.00001
|
|
NM_000282.4(PCCA):c.819+20T>C
|
rs759539188
|
0.00001
|
|
NM_000282.4(PCCA):c.849A>G (p.Leu283=)
|
rs1357373616
|
0.00001
|
|
NM_000282.4(PCCA):c.858T>C (p.Asn286=)
|
rs778427348
|
0.00001
|
|
NM_000282.4(PCCA):c.863G>A (p.Arg288Lys)
|
rs879253810
|
0.00001
|
|
NM_000282.4(PCCA):c.864A>G (p.Arg288=)
|
rs771222501
|
0.00001
|
|
NM_000282.4(PCCA):c.914+3A>G
|
rs749376990
|
0.00001
|
|
NM_000282.4(PCCA):c.970G>T (p.Ala324Ser)
|
rs749617899
|
0.00001
|
|
NM_000282.4(PCCA):c.987T>C (p.Tyr329=)
|
rs778986379
|
0.00001
|
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
|
NM_000317.3(PTS):c.106A>G (p.Asn36Asp)
|
rs1374807422
|
0.00001
|
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
|
NM_000317.3(PTS):c.163+7G>A
|
rs1384844563
|
0.00001
|
|
NM_000317.3(PTS):c.186+1G>T
|
rs1256819927
|
0.00001
|
|
NM_000317.3(PTS):c.187A>G (p.Ile63Val)
|
rs778053171
|
0.00001
|
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
|
NM_000317.3(PTS):c.211A>G (p.Met71Val)
|
rs1296871450
|
0.00001
|
|
NM_000317.3(PTS):c.216T>A (p.Asn72Lys)
|
rs200279736
|
0.00001
|
|
NM_000317.3(PTS):c.22C>T (p.Arg8Cys)
|
rs1859865574
|
0.00001
|
|
NM_000317.3(PTS):c.237T>C (p.Tyr79=)
|
rs766251710
|
0.00001
|
|
NM_000317.3(PTS):c.243+2T>C
|
rs759363496
|
0.00001
|
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
|
NM_000317.3(PTS):c.279G>C (p.Leu93=)
|
rs1157712069
|
0.00001
|
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
|
NM_000317.3(PTS):c.292C>T (p.Pro98Ser)
|
rs1859964687
|
0.00001
|
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
|
NM_000317.3(PTS):c.347A>G (p.Asp116Gly)
|
rs104894279
|
0.00001
|
|
NM_000317.3(PTS):c.360A>T (p.Lys120Asn)
|
rs1859970916
|
0.00001
|
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
|
NM_000317.3(PTS):c.379C>G (p.Leu127Val)
|
rs1859971515
|
0.00001
|
|
NM_000317.3(PTS):c.45C>T (p.Ser15=)
|
rs756084052
|
0.00001
|
|
NM_000317.3(PTS):c.66G>A (p.Ala22=)
|
rs1859866331
|
0.00001
|
|
NM_000317.3(PTS):c.74_76dup (p.Leu26Ter)
|
rs765777664
|
0.00001
|
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
|
NM_000320.3(QDPR):c.115A>C (p.Ser39Arg)
|
rs987746060
|
0.00001
|
|
NM_000320.3(QDPR):c.147C>T (p.Ser49=)
|
rs758659025
|
0.00001
|
|
NM_000320.3(QDPR):c.151A>G (p.Ser51Gly)
|
rs1353342221
|
0.00001
|
|
NM_000320.3(QDPR):c.157A>G (p.Ile53Val)
|
rs550966415
|
0.00001
|
|
NM_000320.3(QDPR):c.172G>A (p.Asp58Asn)
|
rs1172704301
|
0.00001
|
|
NM_000320.3(QDPR):c.186G>A (p.Glu62=)
|
rs771557010
|
0.00001
|
|
NM_000320.3(QDPR):c.287A>G (p.Lys96Arg)
|
rs1371078094
|
0.00001
|
|
NM_000320.3(QDPR):c.296-18C>T
|
rs770021666
|
0.00001
|
|
NM_000320.3(QDPR):c.296-7C>T
|
rs376187471
|
0.00001
|
|
NM_000320.3(QDPR):c.318G>A (p.Leu106=)
|
rs766832692
|
0.00001
|
|
NM_000320.3(QDPR):c.334A>G (p.Ile112Val)
|
rs112686538
|
0.00001
|
|
NM_000320.3(QDPR):c.344C>T (p.Ser115Leu)
|
rs1407920390
|
0.00001
|
|
NM_000320.3(QDPR):c.34C>A (p.Arg12=)
|
rs1372264673
|
0.00001
|
|
NM_000320.3(QDPR):c.400T>C (p.Leu134=)
|
rs775048498
|
0.00001
|
|
NM_000320.3(QDPR):c.423G>A (p.Leu141=)
|
rs1553875093
|
0.00001
|
|
NM_000320.3(QDPR):c.436+5G>C
|
rs764651358
|
0.00001
|
|
NM_000320.3(QDPR):c.437G>C (p.Gly146Ala)
|
rs144673363
|
0.00001
|
|
NM_000320.3(QDPR):c.444C>T (p.Ile148=)
|
rs754982401
|
0.00001
|
|
NM_000320.3(QDPR):c.490C>G (p.Leu164Val)
|
rs774366700
|
0.00001
|
|
NM_000320.3(QDPR):c.496G>A (p.Gly166Arg)
|
rs768729528
|
0.00001
|
|
NM_000320.3(QDPR):c.507C>T (p.Ser169=)
|
rs774932503
|
0.00001
|
|
NM_000320.3(QDPR):c.508G>A (p.Gly170Ser)
|
rs769460415
|
0.00001
|
|
NM_000320.3(QDPR):c.517C>G (p.Pro173Ala)
|
rs1219263968
|
0.00001
|
|
NM_000320.3(QDPR):c.520G>A (p.Gly174Arg)
|
rs755535883
|
0.00001
|
|
NM_000320.3(QDPR):c.535G>A (p.Ala179Thr)
|
rs761644688
|
0.00001
|
|
NM_000320.3(QDPR):c.545+14G>T
|
rs775046749
|
0.00001
|
|
NM_000320.3(QDPR):c.545C>T (p.Pro182Leu)
|
rs1364780551
|
0.00001
|
|
NM_000320.3(QDPR):c.546-2A>G
|
rs1577184852
|
0.00001
|
|
NM_000320.3(QDPR):c.546-9C>A
|
rs764033550
|
0.00001
|
|
NM_000320.3(QDPR):c.55A>T (p.Arg19Trp)
|
rs1431359277
|
0.00001
|
|
NM_000320.3(QDPR):c.635T>A (p.Phe212Tyr)
|
rs777797545
|
0.00001
|
|
NM_000320.3(QDPR):c.644G>A (p.Trp215Ter)
|
rs778806991
|
0.00001
|
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
|
NM_000320.3(QDPR):c.68G>A (p.Gly23Asp)
|
rs104893863
|
0.00001
|
|
NM_000320.3(QDPR):c.8C>T (p.Ala3Val)
|
rs759025201
|
0.00001
|
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
|
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
|
rs769440649
|
0.00001
|
|
NM_000329.3(RPE65):c.105C>T (p.Pro35=)
|
rs996390276
|
0.00001
|
|
NM_000329.3(RPE65):c.1083C>A (p.Pro361=)
|
rs756209191
|
0.00001
|
|
NM_000329.3(RPE65):c.1092A>G (p.Glu364=)
|
rs751860030
|
0.00001
|
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
|
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly)
|
rs749942889
|
0.00001
|
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
|
NM_000329.3(RPE65):c.1221T>C (p.Val407=)
|
rs771095890
|
0.00001
|
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
|
NM_000329.3(RPE65):c.1233G>A (p.Gly411=)
|
rs373834001
|
0.00001
|
|
NM_000329.3(RPE65):c.1235C>T (p.Pro412Leu)
|
rs199613555
|
0.00001
|
|
NM_000329.3(RPE65):c.1243+18A>G
|
rs749922257
|
0.00001
|
|
NM_000329.3(RPE65):c.1244-6T>C
|
rs1290347377
|
0.00001
|
|
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)
|
rs62636299
|
0.00001
|
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
|
NM_000329.3(RPE65):c.126C>T (p.Leu42=)
|
rs148973921
|
0.00001
|
|
NM_000329.3(RPE65):c.1299T>C (p.Tyr433=)
|
rs763437650
|
0.00001
|
|
NM_000329.3(RPE65):c.1334A>G (p.Asp445Gly)
|
rs1645824155
|
0.00001
|
|
NM_000329.3(RPE65):c.1371T>C (p.Thr457=)
|
rs372273815
|
0.00001
|
|
NM_000329.3(RPE65):c.1398C>T (p.Tyr466=)
|
rs764189309
|
0.00001
|
|
NM_000329.3(RPE65):c.1399C>G (p.Pro467Ala)
|
rs1395763356
|
0.00001
|
|
NM_000329.3(RPE65):c.1407A>G (p.Glu469=)
|
rs762977154
|
0.00001
|
|
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
|
rs749242996
|
0.00001
|
|
NM_000329.3(RPE65):c.1451-7T>C
|
rs773933584
|
0.00001
|
|
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
|
rs62653015
|
0.00001
|
|
NM_000329.3(RPE65):c.1459C>T (p.Leu487=)
|
rs1404827828
|
0.00001
|
|
NM_000329.3(RPE65):c.1485A>C (p.Ala495=)
|
rs753956649
|
0.00001
|
|
NM_000329.3(RPE65):c.1486G>A (p.Gly496Arg)
|
rs1468393625
|
0.00001
|
|
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
|
rs767931252
|
0.00001
|
|
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
|
rs190761343
|
0.00001
|
|
NM_000329.3(RPE65):c.1581T>C (p.His527=)
|
rs768915904
|
0.00001
|
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
|
NM_000329.3(RPE65):c.235T>C (p.Tyr79His)
|
rs61752869
|
0.00001
|
|
NM_000329.3(RPE65):c.264T>C (p.Ala88=)
|
rs771159132
|
0.00001
|
|
NM_000329.3(RPE65):c.267C>T (p.Tyr89=)
|
rs372620785
|
0.00001
|
|
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)
|
rs281865285
|
0.00001
|
|
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
|
rs1444234037
|
0.00001
|
|
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile)
|
rs1260914084
|
0.00001
|
|
NM_000329.3(RPE65):c.327A>G (p.Pro109=)
|
rs1356737522
|
0.00001
|
|
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly)
|
rs1571170561
|
0.00001
|
|
NM_000329.3(RPE65):c.344T>C (p.Ile115Thr)
|
rs1645929674
|
0.00001
|
|
NM_000329.3(RPE65):c.354-7T>C
|
rs776756253
|
0.00001
|
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
|
NM_000329.3(RPE65):c.417G>A (p.Val139=)
|
rs536073181
|
0.00001
|
|
NM_000329.3(RPE65):c.450C>T (p.Asn150=)
|
rs370004418
|
0.00001
|
|
NM_000329.3(RPE65):c.45G>T (p.Leu15=)
|
rs1292301823
|
0.00001
|
|
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
|
rs774309607
|
0.00001
|
|
NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)
|
rs1202384396
|
0.00001
|
|
NM_000329.3(RPE65):c.494A>T (p.Gln165Leu)
|
rs745338004
|
0.00001
|
|
NM_000329.3(RPE65):c.495+10A>G
|
rs1186657454
|
0.00001
|
|
NM_000329.3(RPE65):c.496-10A>C
|
rs372059562
|
0.00001
|
|
NM_000329.3(RPE65):c.496-14C>T
|
rs763256793
|
0.00001
|
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
|
NM_000329.3(RPE65):c.547A>G (p.Ile183Val)
|
rs1010958875
|
0.00001
|
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
|
NM_000329.3(RPE65):c.563C>T (p.Thr188Ile)
|
rs1196428445
|
0.00001
|
|
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
|
rs747122876
|
0.00001
|
|
NM_000329.3(RPE65):c.624G>A (p.Lys208=)
|
rs1170839612
|
0.00001
|
|
NM_000329.3(RPE65):c.634C>T (p.Leu212=)
|
rs1020549411
|
0.00001
|
|
NM_000329.3(RPE65):c.63A>G (p.Glu21=)
|
rs1043155791
|
0.00001
|
|
NM_000329.3(RPE65):c.643+10C>A
|
rs758825902
|
0.00001
|
|
NM_000329.3(RPE65):c.643+19C>T
|
rs371106770
|
0.00001
|
|
NM_000329.3(RPE65):c.644-2A>C
|
rs61752891
|
0.00001
|
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
|
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
|
rs577193739
|
0.00001
|
|
NM_000329.3(RPE65):c.717C>T (p.Tyr239=)
|
rs1366781286
|
0.00001
|
|
NM_000329.3(RPE65):c.725+2T>A
|
rs1355979496
|
0.00001
|
|
NM_000329.3(RPE65):c.726-19C>A
|
rs1219424509
|
0.00001
|
|
NM_000329.3(RPE65):c.726-9T>C
|
rs751054481
|
0.00001
|
|
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
|
rs758264644
|
0.00001
|
|
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
|
rs1343005273
|
0.00001
|
|
NM_000329.3(RPE65):c.750C>T (p.Ile250=)
|
rs759403626
|
0.00001
|
|
NM_000329.3(RPE65):c.774A>G (p.Lys258=)
|
rs1264648487
|
0.00001
|
|
NM_000329.3(RPE65):c.777T>C (p.Ile259=)
|
rs762186209
|
0.00001
|
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
|
NM_000329.3(RPE65):c.798T>C (p.Ser266=)
|
rs1645882700
|
0.00001
|
|
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
|
rs777461552
|
0.00001
|
|
NM_000329.3(RPE65):c.822C>T (p.Asn274=)
|
rs777207027
|
0.00001
|
|
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
|
rs377762154
|
0.00001
|
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
|
NM_000329.3(RPE65):c.888G>A (p.Arg296=)
|
rs778422718
|
0.00001
|
|
NM_000329.3(RPE65):c.894G>A (p.Lys298=)
|
rs768068723
|
0.00001
|
|
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)
|
rs61752904
|
0.00001
|
|
NM_000329.3(RPE65):c.909A>C (p.Lys303Asn)
|
rs756160706
|
0.00001
|
|
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile)
|
rs1171545533
|
0.00001
|
|
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
|
rs1261473838
|
0.00001
|
|
NM_000329.3(RPE65):c.938A>G (p.His313Arg)
|
rs1375943362
|
0.00001
|
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
|
NM_000329.3(RPE65):c.957A>G (p.Glu319=)
|
rs753954638
|
0.00001
|
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
|
NM_000329.3(RPE65):c.987C>T (p.Cys329=)
|
rs1250396948
|
0.00001
|
|
NM_000329.3(RPE65):c.992G>A (p.Trp331Ter)
|
rs761471961
|
0.00001
|
|
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter)
|
rs1645879569
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His)
|
rs745473969
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1119G>A (p.Thr373=)
|
rs772223467
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala)
|
rs1238384854
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu)
|
rs759029819
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys)
|
rs1031709288
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=)
|
rs557669708
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1326C>T (p.Asn442=)
|
rs368554884
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg)
|
rs1469809535
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)
|
rs777575410
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His)
|
rs776729515
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr)
|
rs267599386
|
0.00001
|
|
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly)
|
rs377448239
|
0.00001
|
|
NM_000341.4(SLC3A1):c.2011C>T (p.Arg671Ter)
|
rs1361526419
|
0.00001
|
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
|
NM_000341.4(SLC3A1):c.264C>T (p.Ile88=)
|
rs770970062
|
0.00001
|
|
NM_000341.4(SLC3A1):c.276C>T (p.Leu92=)
|
rs1671329757
|
0.00001
|
|
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg)
|
rs750919380
|
0.00001
|
|
NM_000341.4(SLC3A1):c.892-9C>T
|
rs1335328608
|
0.00001
|
|
NM_000353.3(TAT):c.1041+10G>A
|
rs757195169
|
0.00001
|
|
NM_000353.3(TAT):c.1042-12C>T
|
rs748571289
|
0.00001
|
|
NM_000353.3(TAT):c.1050T>C (p.Ala350=)
|
rs1323649409
|
0.00001
|
|
NM_000353.3(TAT):c.1125+10T>C
|
rs746015147
|
0.00001
|
|
NM_000353.3(TAT):c.1126-14T>C
|
rs776899240
|
0.00001
|
|
NM_000353.3(TAT):c.1146T>C (p.His382=)
|
rs141534499
|
0.00001
|
|
NM_000353.3(TAT):c.1179G>A (p.Thr393=)
|
rs760896128
|
0.00001
|
|
NM_000353.3(TAT):c.117C>G (p.Ala39=)
|
rs1451272406
|
0.00001
|
|
NM_000353.3(TAT):c.1225-5T>C
|
rs760804060
|
0.00001
|
|
NM_000353.3(TAT):c.1236C>T (p.Tyr412=)
|
rs1441677896
|
0.00001
|
|
NM_000353.3(TAT):c.1249C>T (p.Arg417Ter)
|
rs118203916
|
0.00001
|
|
NM_000353.3(TAT):c.1250G>A (p.Arg417Gln)
|
rs757879229
|
0.00001
|
|
NM_000353.3(TAT):c.1269C>T (p.Pro423=)
|
rs779346474
|
0.00001
|
|
NM_000353.3(TAT):c.1290G>A (p.Ala430=)
|
rs767563000
|
0.00001
|
|
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)
|
rs761817519
|
0.00001
|
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
|
NM_000353.3(TAT):c.12C>T (p.Tyr4=)
|
rs773782377
|
0.00001
|
|
NM_000353.3(TAT):c.133C>T (p.Pro45Ser)
|
rs575372249
|
0.00001
|
|
NM_000353.3(TAT):c.207A>G (p.Pro69=)
|
rs1383405389
|
0.00001
|
|
NM_000353.3(TAT):c.235G>A (p.Gly79Arg)
|
rs1489707578
|
0.00001
|
|
NM_000353.3(TAT):c.236-8A>G
|
rs1331039178
|
0.00001
|
|
NM_000353.3(TAT):c.341-7C>G
|
rs1291363507
|
0.00001
|
|
NM_000353.3(TAT):c.348A>C (p.Leu116=)
|
rs1020645107
|
0.00001
|
|
NM_000353.3(TAT):c.351C>T (p.Ser117=)
|
rs977686877
|
0.00001
|
|
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)
|
rs758306831
|
0.00001
|
|
NM_000353.3(TAT):c.362A>C (p.Glu121Ala)
|
rs765073890
|
0.00001
|
|
NM_000353.3(TAT):c.408+7C>G
|
rs1489466141
|
0.00001
|
|
NM_000353.3(TAT):c.438A>G (p.Gln146=)
|
rs550620178
|
0.00001
|
|
NM_000353.3(TAT):c.564G>T (p.Leu188Phe)
|
rs781506099
|
0.00001
|
|
NM_000353.3(TAT):c.568-9T>C
|
rs958672860
|
0.00001
|
|
NM_000353.3(TAT):c.570A>G (p.Pro190=)
|
rs147832751
|
0.00001
|
|
NM_000353.3(TAT):c.614T>C (p.Ile205Thr)
|
rs201857669
|
0.00001
|
|
NM_000353.3(TAT):c.61C>A (p.His21Asn)
|
rs1378439044
|
0.00001
|
|
NM_000353.3(TAT):c.716G>A (p.Arg239Gln)
|
rs1597053922
|
0.00001
|
|
NM_000353.3(TAT):c.760-8C>G
|
rs368379963
|
0.00001
|
|
NM_000353.3(TAT):c.840G>A (p.Lys280=)
|
rs747797659
|
0.00001
|
|
NM_000353.3(TAT):c.870C>G (p.Gly290=)
|
rs746209091
|
0.00001
|
|
NM_000353.3(TAT):c.885T>C (p.His295=)
|
rs764232948
|
0.00001
|
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
|
NM_000353.3(TAT):c.912+1G>A
|
rs2044196815
|
0.00001
|
|
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)
|
rs1316166172
|
0.00001
|
|
NM_000353.3(TAT):c.932A>G (p.Lys311Arg)
|
rs2044193411
|
0.00001
|
|
NM_000353.3(TAT):c.933G>A (p.Lys311=)
|
rs774056969
|
0.00001
|
|
NM_000360.4(TH):c.1038G>C (p.Gln346His)
|
rs770006796
|
0.00001
|
|
NM_000360.4(TH):c.1047+7C>T
|
rs771406751
|
0.00001
|
|
NM_000360.4(TH):c.1048-7T>C
|
rs1846081680
|
0.00001
|
|
NM_000360.4(TH):c.1062G>A (p.Ala354=)
|
rs775488051
|
0.00001
|
|
NM_000360.4(TH):c.1076C>T (p.Ser359Leu)
|
rs765379626
|
0.00001
|
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
|
NM_000360.4(TH):c.1104+11C>A
|
rs1368988481
|
0.00001
|
|
NM_000360.4(TH):c.1128C>T (p.Phe376=)
|
rs769329337
|
0.00001
|
|
NM_000360.4(TH):c.1141C>A (p.Gln381Lys)
|
rs121917762
|
0.00001
|
|
NM_000360.4(TH):c.1146C>T (p.Asn382=)
|
rs202090361
|
0.00001
|
|
NM_000360.4(TH):c.1149G>A (p.Gly383=)
|
rs758398302
|
0.00001
|
|
NM_000360.4(TH):c.1151A>G (p.Glu384Gly)
|
rs540601354
|
0.00001
|
|
NM_000360.4(TH):c.1156A>G (p.Lys386Glu)
|
rs1846071121
|
0.00001
|
|
NM_000360.4(TH):c.1191G>A (p.Gly397=)
|
rs545937773
|
0.00001
|
|
NM_000360.4(TH):c.1197C>T (p.Leu399=)
|
rs762263415
|
0.00001
|
|
NM_000360.4(TH):c.1200+7G>A
|
rs1463979447
|
0.00001
|
|
NM_000360.4(TH):c.1201-16A>G
|
rs201228560
|
0.00001
|
|
NM_000360.4(TH):c.1209G>A (p.Leu403=)
|
rs1255096793
|
0.00001
|
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
|
NM_000360.4(TH):c.1251G>A (p.Ala417=)
|
rs774769978
|
0.00001
|
|
NM_000360.4(TH):c.1257G>A (p.Val419=)
|
rs1299170832
|
0.00001
|
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
|
NM_000360.4(TH):c.1300T>C (p.Ser434Pro)
|
rs1367289835
|
0.00001
|
|
NM_000360.4(TH):c.1301C>G (p.Ser434Cys)
|
rs767211543
|
0.00001
|
|
NM_000360.4(TH):c.1332C>T (p.Leu444=)
|
rs534572182
|
0.00001
|
|
NM_000360.4(TH):c.1334+9G>A
|
rs758713265
|
0.00001
|
|
NM_000360.4(TH):c.1335-14G>A
|
rs754310603
|
0.00001
|
|
NM_000360.4(TH):c.1361C>A (p.Pro454His)
|
rs776457245
|
0.00001
|
|
NM_000360.4(TH):c.1393G>A (p.Ala465Thr)
|
rs1846021958
|
0.00001
|
|
NM_000360.4(TH):c.1394C>T (p.Ala465Val)
|
rs1846021859
|
0.00001
|
|
NM_000360.4(TH):c.1399G>T (p.Asp467Tyr)
|
rs200751977
|
0.00001
|
|
NM_000360.4(TH):c.1426C>T (p.Arg476Trp)
|
rs201616746
|
0.00001
|
|
NM_000360.4(TH):c.1427G>A (p.Arg476Gln)
|
rs774575772
|
0.00001
|
|
NM_000360.4(TH):c.1429C>T (p.Arg477Cys)
|
rs78779683
|
0.00001
|
|
NM_000360.4(TH):c.1430G>A (p.Arg477His)
|
rs78426052
|
0.00001
|
|
NM_000360.4(TH):c.1464C>A (p.Thr488=)
|
rs1245346478
|
0.00001
|
|
NM_000360.4(TH):c.1490G>A (p.Gly497Asp)
|
rs753632777
|
0.00001
|
|
NM_000360.4(TH):c.150G>A (p.Glu50=)
|
rs763790386
|
0.00001
|
|
NM_000360.4(TH):c.155C>T (p.Ala52Val)
|
rs1338337952
|
0.00001
|
|
NM_000360.4(TH):c.15C>T (p.Asp5=)
|
rs562609508
|
0.00001
|
|
NM_000360.4(TH):c.168G>A (p.Ala56=)
|
rs776640286
|
0.00001
|
|
NM_000360.4(TH):c.185C>T (p.Ser62Leu)
|
rs574633942
|
0.00001
|
|
NM_000360.4(TH):c.193G>A (p.Gly65Arg)
|
rs780478399
|
0.00001
|
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
|
NM_000360.4(TH):c.204G>A (p.Leu68=)
|
rs1378296581
|
0.00001
|
|
NM_000360.4(TH):c.285G>A (p.Ala95=)
|
rs749856378
|
0.00001
|
|
NM_000360.4(TH):c.2T>C (p.Met1Thr)
|
rs201932766
|
0.00001
|
|
NM_000360.4(TH):c.303G>A (p.Lys101=)
|
rs752339418
|
0.00001
|
|
NM_000360.4(TH):c.30G>A (p.Gln10=)
|
rs980737617
|
0.00001
|
|
NM_000360.4(TH):c.315G>A (p.Thr105=)
|
rs778507389
|
0.00001
|
|
NM_000360.4(TH):c.331C>T (p.His111Tyr)
|
rs911394543
|
0.00001
|
|
NM_000360.4(TH):c.340G>A (p.Glu114Lys)
|
rs759435668
|
0.00001
|
|
NM_000360.4(TH):c.378C>T (p.Pro126=)
|
rs779782825
|
0.00001
|
|
NM_000360.4(TH):c.38G>C (p.Gly13Ala)
|
rs1225376055
|
0.00001
|
|
NM_000360.4(TH):c.392T>C (p.Phe131Ser)
|
rs958536401
|
0.00001
|
|
NM_000360.4(TH):c.393C>T (p.Phe131=)
|
rs1239693053
|
0.00001
|
|
NM_000360.4(TH):c.402C>T (p.Leu134=)
|
rs759914498
|
0.00001
|
|
NM_000360.4(TH):c.427G>A (p.Ala143Thr)
|
rs201911992
|
0.00001
|
|
NM_000360.4(TH):c.434T>A (p.Leu145His)
|
rs758527628
|
0.00001
|
|
NM_000360.4(TH):c.43C>T (p.Arg15Cys)
|
rs573547573
|
0.00001
|
|
NM_000360.4(TH):c.445C>T (p.Arg149Cys)
|
rs779228923
|
0.00001
|
|
NM_000360.4(TH):c.447C>A (p.Arg149=)
|
rs1288293766
|
0.00001
|
|
NM_000360.4(TH):c.457G>A (p.Glu153Lys)
|
rs754247629
|
0.00001
|
|
NM_000360.4(TH):c.458A>G (p.Glu153Gly)
|
rs766666741
|
0.00001
|
|
NM_000360.4(TH):c.462C>T (p.Asp154=)
|
rs76831425
|
0.00001
|
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
|
NM_000360.4(TH):c.487+14C>G
|
rs1298714018
|
0.00001
|
|
NM_000360.4(TH):c.517C>A (p.Leu173Met)
|
rs1468608879
|
0.00001
|
|
NM_000360.4(TH):c.541A>T (p.Thr181Ser)
|
rs774561953
|
0.00001
|
|
NM_000360.4(TH):c.558C>T (p.Asp186=)
|
rs781341540
|
0.00001
|
|
NM_000360.4(TH):c.562G>C (p.Asp188His)
|
rs757849221
|
0.00001
|
|
NM_000360.4(TH):c.565T>G (p.Leu189Val)
|
rs751996815
|
0.00001
|
|
NM_000360.4(TH):c.574C>T (p.Pro192Ser)
|
rs753359396
|
0.00001
|
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
|
NM_000360.4(TH):c.576+3G>A
|
rs761872336
|
0.00001
|
|
NM_000360.4(TH):c.582C>A (p.Phe194Leu)
|
rs555133070
|
0.00001
|
|
NM_000360.4(TH):c.584C>T (p.Ser195Leu)
|
rs372409517
|
0.00001
|
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
0.00001
|
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
|
NM_000360.4(TH):c.636G>A (p.Gln212=)
|
rs752607225
|
0.00001
|
|
NM_000360.4(TH):c.644+10C>T
|
rs760886341
|
0.00001
|
|
NM_000360.4(TH):c.644+20G>A
|
rs745379902
|
0.00001
|
|
NM_000360.4(TH):c.644+8G>A
|
rs776723483
|
0.00001
|
|
NM_000360.4(TH):c.644+8G>C
|
rs776723483
|
0.00001
|
|
NM_000360.4(TH):c.645-18C>T
|
rs762094071
|
0.00001
|
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
|
NM_000360.4(TH):c.675C>T (p.Thr225=)
|
rs1437906953
|
0.00001
|
|
NM_000360.4(TH):c.676G>A (p.Ala226Thr)
|
rs549188961
|
0.00001
|
|
NM_000360.4(TH):c.695+11C>T
|
rs993765578
|
0.00001
|
|
NM_000360.4(TH):c.696-5C>T
|
rs755960694
|
0.00001
|
|
NM_000360.4(TH):c.723C>A (p.Gly241=)
|
rs752953358
|
0.00001
|
|
NM_000360.4(TH):c.733A>C (p.Thr245Pro)
|
rs28934581
|
0.00001
|
|
NM_000360.4(TH):c.738C>T (p.His246=)
|
rs761504134
|
0.00001
|
|
NM_000360.4(TH):c.739G>C (p.Ala247Pro)
|
rs373283527
|
0.00001
|
|
NM_000360.4(TH):c.749A>T (p.Glu250Val)
|
rs878855309
|
0.00001
|
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
|
NM_000360.4(TH):c.773T>C (p.Leu258Pro)
|
rs1846111747
|
0.00001
|
|
NM_000360.4(TH):c.786C>T (p.Ser262=)
|
rs753109309
|
0.00001
|
|
NM_000360.4(TH):c.823G>A (p.Val275Ile)
|
rs770941754
|
0.00001
|
|
NM_000360.4(TH):c.828C>G (p.Ser276=)
|
rs747123916
|
0.00001
|
|
NM_000360.4(TH):c.841+12C>T
|
rs368489295
|
0.00001
|
|
NM_000360.4(TH):c.841+15G>C
|
rs1289211521
|
0.00001
|
|
NM_000360.4(TH):c.842-6T>C
|
rs1363004689
|
0.00001
|
|
NM_000360.4(TH):c.849G>A (p.Thr283=)
|
rs892319076
|
0.00001
|
|
NM_000360.4(TH):c.850G>A (p.Gly284Ser)
|
rs1288483479
|
0.00001
|
|
NM_000360.4(TH):c.873C>T (p.Ala291=)
|
rs1176834491
|
0.00001
|
|
NM_000360.4(TH):c.885C>T (p.Ser295=)
|
rs772023928
|
0.00001
|
|
NM_000360.4(TH):c.894C>T (p.Asp298=)
|
rs1003880422
|
0.00001
|
|
NM_000360.4(TH):c.90+22C>G
|
rs753296112
|
0.00001
|
|
NM_000360.4(TH):c.90+27G>A
|
rs1343146453
|
0.00001
|
|
NM_000360.4(TH):c.91-17G>A
|
rs1198598913
|
0.00001
|
|
NM_000360.4(TH):c.91-800T>C
|
rs1234803833
|
0.00001
|
|
NM_000360.4(TH):c.91-821A>C
|
rs1338821407
|
0.00001
|
|
NM_000360.4(TH):c.91-892C>T
|
rs775961364
|
0.00001
|
|
NM_000360.4(TH):c.954C>T (p.Ser318=)
|
rs1462093961
|
0.00001
|
|
NM_000360.4(TH):c.96G>A (p.Pro32=)
|
rs202167640
|
0.00001
|
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
|
NM_000360.4(TH):c.978-6G>T
|
rs75487597
|
0.00001
|
|
NM_000360.4(TH):c.981C>T (p.Asp327=)
|
rs947297093
|
0.00001
|
|
NM_000360.4(TH):c.990C>T (p.His330=)
|
rs760420202
|
0.00001
|
|
NM_000360.4(TH):c.996G>A (p.Leu332=)
|
rs750185526
|
0.00001
|
|
NM_000360.4(TH):c.996G>T (p.Leu332=)
|
rs750185526
|
0.00001
|
|
NM_000387.6(SLC25A20):c.105+14G>A
|
rs755691674
|
0.00001
|
|
NM_000387.6(SLC25A20):c.187C>G (p.Leu63Val)
|
rs1044481006
|
0.00001
|
|
NM_000387.6(SLC25A20):c.327-13G>C
|
rs781297561
|
0.00001
|
|
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)
|
rs151340616
|
0.00001
|
|
NM_000387.6(SLC25A20):c.533G>A (p.Arg178Gln)
|
rs754563147
|
0.00001
|
|
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly)
|
rs1205051168
|
0.00001
|
|
NM_000387.6(SLC25A20):c.570T>C (p.Tyr190=)
|
rs144972397
|
0.00001
|
|
NM_000387.6(SLC25A20):c.584A>G (p.Asn195Ser)
|
rs957471249
|
0.00001
|
|
NM_000387.6(SLC25A20):c.597G>A (p.Pro199=)
|
rs142911267
|
0.00001
|
|
NM_000387.6(SLC25A20):c.682A>G (p.Ile228Val)
|
rs752670118
|
0.00001
|
|
NM_000387.6(SLC25A20):c.689C>T (p.Pro230Leu)
|
rs1327726845
|
0.00001
|
|
NM_000387.6(SLC25A20):c.752A>G (p.Asp251Gly)
|
rs754912115
|
0.00001
|
|
NM_000387.6(SLC25A20):c.803G>T (p.Gly268Val)
|
rs764658807
|
0.00001
|
|
NM_000387.6(SLC25A20):c.824G>A (p.Arg275Gln)
|
rs376342597
|
0.00001
|
|
NM_000387.6(SLC25A20):c.843+4A>G
|
rs2083597693
|
0.00001
|
|
NM_000387.6(SLC25A20):c.844-6T>C
|
rs760652203
|
0.00001
|
|
NM_000387.6(SLC25A20):c.84del (p.His29fs)
|
rs587776760
|
0.00001
|
|
NM_000387.6(SLC25A20):c.906A>G (p.Ter302Trp)
|
rs939873864
|
0.00001
|
|
NM_000481.4(AMT):c.1029G>A (p.Lys343=)
|
rs1553638253
|
0.00001
|
|
NM_000481.4(AMT):c.1034-14T>C
|
rs772896226
|
0.00001
|
|
NM_000481.4(AMT):c.1038T>C (p.Thr346=)
|
rs532787574
|
0.00001
|
|
NM_000481.4(AMT):c.1083G>A (p.Ala361=)
|
rs753899057
|
0.00001
|
|
NM_000481.4(AMT):c.1092T>C (p.Tyr364=)
|
rs764246902
|
0.00001
|
|
NM_000481.4(AMT):c.1095G>A (p.Val365=)
|
rs1367905315
|
0.00001
|
|
NM_000481.4(AMT):c.1101C>T (p.Cys367=)
|
rs753150990
|
0.00001
|
|
NM_000481.4(AMT):c.110C>T (p.Pro37Leu)
|
rs202225151
|
0.00001
|
|
NM_000481.4(AMT):c.111G>A (p.Pro37=)
|
rs754165977
|
0.00001
|
|
NM_000481.4(AMT):c.1140G>C (p.Val380=)
|
rs746645414
|
0.00001
|
|
NM_000481.4(AMT):c.1157T>C (p.Met386Thr)
|
rs757170367
|
0.00001
|
|
NM_000481.4(AMT):c.123C>T (p.Phe41=)
|
rs774066970
|
0.00001
|
|
NM_000481.4(AMT):c.126C>T (p.His42=)
|
rs761195733
|
0.00001
|
|
NM_000481.4(AMT):c.135C>T (p.His45=)
|
rs773881893
|
0.00001
|
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
|
NM_000481.4(AMT):c.141G>A (p.Gly47=)
|
rs1286962248
|
0.00001
|
|
NM_000481.4(AMT):c.153G>A (p.Ala51=)
|
rs768510463
|
0.00001
|
|
NM_000481.4(AMT):c.158C>T (p.Ala53Val)
|
rs746916262
|
0.00001
|
|
NM_000481.4(AMT):c.170T>C (p.Leu57Pro)
|
rs1439129399
|
0.00001
|
|
NM_000481.4(AMT):c.173C>T (p.Pro58Leu)
|
rs1008341193
|
0.00001
|
|
NM_000481.4(AMT):c.183C>T (p.Tyr61=)
|
rs2049116527
|
0.00001
|
|
NM_000481.4(AMT):c.198T>C (p.Thr66=)
|
rs151231828
|
0.00001
|
|
NM_000481.4(AMT):c.204G>A (p.Ser68=)
|
rs544165488
|
0.00001
|
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
|
NM_000481.4(AMT):c.218G>A (p.Arg73His)
|
rs928833763
|
0.00001
|
|
NM_000481.4(AMT):c.22G>A (p.Val8Met)
|
rs759853191
|
0.00001
|
|
NM_000481.4(AMT):c.298A>G (p.Ser100Gly)
|
rs994868932
|
0.00001
|
|
NM_000481.4(AMT):c.29G>A (p.Arg10His)
|
rs150649086
|
0.00001
|
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
|
NM_000481.4(AMT):c.339+1G>A
|
rs1575308129
|
0.00001
|
|
NM_000481.4(AMT):c.340-19C>T
|
rs529076810
|
0.00001
|
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
|
NM_000481.4(AMT):c.399C>T (p.Thr133=)
|
rs1638775910
|
0.00001
|
|
NM_000481.4(AMT):c.425T>G (p.Val142Gly)
|
rs753217454
|
0.00001
|
|
NM_000481.4(AMT):c.435C>T (p.Asn145=)
|
rs1318110345
|
0.00001
|
|
NM_000481.4(AMT):c.441C>G (p.Gly147=)
|
rs2049076356
|
0.00001
|
|
NM_000481.4(AMT):c.443G>T (p.Cys148Phe)
|
rs140697432
|
0.00001
|
|
NM_000481.4(AMT):c.459G>A (p.Leu153=)
|
rs1054393564
|
0.00001
|
|
NM_000481.4(AMT):c.462C>T (p.Ala154=)
|
rs1192215555
|
0.00001
|
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
|
NM_000481.4(AMT):c.471+7C>G
|
rs776638071
|
0.00001
|
|
NM_000481.4(AMT):c.471+7C>T
|
rs776638071
|
0.00001
|
|
NM_000481.4(AMT):c.471+9C>T
|
rs760770619
|
0.00001
|
|
NM_000481.4(AMT):c.476A>G (p.Lys159Arg)
|
rs1553638556
|
0.00001
|
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
|
NM_000481.4(AMT):c.516G>A (p.Leu172=)
|
rs1281064499
|
0.00001
|
|
NM_000481.4(AMT):c.519G>A (p.Glu173=)
|
rs376777888
|
0.00001
|
|
NM_000481.4(AMT):c.52T>C (p.Phe18Leu)
|
rs778523705
|
0.00001
|
|
NM_000481.4(AMT):c.546G>A (p.Leu182=)
|
rs1231853585
|
0.00001
|
|
NM_000481.4(AMT):c.54C>T (p.Phe18=)
|
rs914716059
|
0.00001
|
|
NM_000481.4(AMT):c.551-20C>T
|
rs770272854
|
0.00001
|
|
NM_000481.4(AMT):c.551-8G>C
|
rs1198266542
|
0.00001
|
|
NM_000481.4(AMT):c.566A>C (p.Gln189Pro)
|
rs1371408104
|
0.00001
|
|
NM_000481.4(AMT):c.576G>A (p.Gln192=)
|
rs1318971313
|
0.00001
|
|
NM_000481.4(AMT):c.579C>T (p.Ala193=)
|
rs749313171
|
0.00001
|
|
NM_000481.4(AMT):c.59C>T (p.Pro20Leu)
|
rs749087037
|
0.00001
|
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
|
NM_000481.4(AMT):c.613A>G (p.Met205Val)
|
rs766904475
|
0.00001
|
|
NM_000481.4(AMT):c.618C>T (p.Thr206=)
|
rs1361089893
|
0.00001
|
|
NM_000481.4(AMT):c.638T>G (p.Phe213Cys)
|
rs963795935
|
0.00001
|
|
NM_000481.4(AMT):c.656G>A (p.Arg219His)
|
rs202043041
|
0.00001
|
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
|
NM_000481.4(AMT):c.684G>A (p.Glu228=)
|
rs2049057695
|
0.00001
|
|
NM_000481.4(AMT):c.696+10G>T
|
rs750787542
|
0.00001
|
|
NM_000481.4(AMT):c.697-11G>A
|
rs751099729
|
0.00001
|
|
NM_000481.4(AMT):c.697-35G>C
|
rs746080712
|
0.00001
|
|
NM_000481.4(AMT):c.702G>A (p.Ser234=)
|
rs761701860
|
0.00001
|
|
NM_000481.4(AMT):c.750C>T (p.Asn250=)
|
rs141324034
|
0.00001
|
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
|
NM_000481.4(AMT):c.798G>A (p.Leu266=)
|
rs749832818
|
0.00001
|
|
NM_000481.4(AMT):c.807C>A (p.Gly269=)
|
rs200176736
|
0.00001
|
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
|
NM_000481.4(AMT):c.830T>C (p.Ile277Thr)
|
rs1052014497
|
0.00001
|
|
NM_000481.4(AMT):c.847C>T (p.Pro283Ser)
|
rs771214835
|
0.00001
|
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
|
NM_000481.4(AMT):c.852G>A (p.Val284=)
|
rs749481166
|
0.00001
|
|
NM_000481.4(AMT):c.877+10G>A
|
rs1292050339
|
0.00001
|
|
NM_000481.4(AMT):c.878-16_878-15del
|
rs759562642
|
0.00001
|
|
NM_000481.4(AMT):c.878-5T>G
|
rs945551152
|
0.00001
|
|
NM_000481.4(AMT):c.879G>C (p.Gly293=)
|
rs972670254
|
0.00001
|
|
NM_000481.4(AMT):c.883C>T (p.Arg295Cys)
|
rs891522376
|
0.00001
|
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
|
NM_000481.4(AMT):c.890G>A (p.Arg297Gln)
|
rs770048404
|
0.00001
|
|
NM_000481.4(AMT):c.891A>G (p.Arg297=)
|
rs763216113
|
0.00001
|
|
NM_000481.4(AMT):c.897T>C (p.Ala299=)
|
rs371771461
|
0.00001
|
|
NM_000481.4(AMT):c.939G>A (p.Lys313=)
|
rs1382062787
|
0.00001
|
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
|
NM_000481.4(AMT):c.972G>A (p.Met324Ile)
|
rs773215128
|
0.00001
|
|
NM_000481.4(AMT):c.982G>A (p.Ala328Thr)
|
rs765464808
|
0.00001
|
|
NM_000481.4(AMT):c.996dup (p.His333fs)
|
rs2049025668
|
0.00001
|
|
NM_000531.6(OTC):c.105G>A (p.Val35=)
|
rs757207910
|
0.00001
|
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
|
NM_000531.6(OTC):c.147C>T (p.Thr49=)
|
rs144153859
|
0.00001
|
|
NM_000531.6(OTC):c.171A>G (p.Leu57=)
|
rs924740805
|
0.00001
|
|
NM_000531.6(OTC):c.217-13C>G
|
rs1465869489
|
0.00001
|
|
NM_000531.6(OTC):c.283T>C (p.Leu95=)
|
rs771474981
|
0.00001
|
|
NM_000531.6(OTC):c.286T>C (p.Ser96Pro)
|
rs184053962
|
0.00001
|
|
NM_000531.6(OTC):c.345T>C (p.Asp115=)
|
rs755849455
|
0.00001
|
|
NM_000531.6(OTC):c.374C>T (p.Thr125Met)
|
rs72554356
|
0.00001
|
|
NM_000531.6(OTC):c.401T>C (p.Met134Thr)
|
rs1380616457
|
0.00001
|
|
NM_000531.6(OTC):c.417G>A (p.Leu139=)
|
rs1416217766
|
0.00001
|
|
NM_000531.6(OTC):c.426G>A (p.Val142=)
|
rs760271775
|
0.00001
|
|
NM_000531.6(OTC):c.522T>G (p.Ala174=)
|
rs749594331
|
0.00001
|
|
NM_000531.6(OTC):c.540+10T>C
|
rs1333367271
|
0.00001
|
|
NM_000531.6(OTC):c.540+1G>A
|
rs72556288
|
0.00001
|
|
NM_000531.6(OTC):c.556C>T (p.Leu186=)
|
rs1337833268
|
0.00001
|
|
NM_000531.6(OTC):c.567T>C (p.Leu189=)
|
rs1401331899
|
0.00001
|
|
NM_000531.6(OTC):c.591G>A (p.Gly197=)
|
rs1569279948
|
0.00001
|
|
NM_000531.6(OTC):c.609C>T (p.Ser203=)
|
rs1354432045
|
0.00001
|
|
NM_000531.6(OTC):c.627G>A (p.Ala209=)
|
rs745635680
|
0.00001
|
|
NM_000531.6(OTC):c.663+7A>C
|
rs767994989
|
0.00001
|
|
NM_000531.6(OTC):c.66T>C (p.Val22=)
|
rs1237799169
|
0.00001
|
|
NM_000531.6(OTC):c.68G>A (p.Arg23Gln)
|
rs148660170
|
0.00001
|
|
NM_000531.6(OTC):c.708T>C (p.Tyr236=)
|
rs754974144
|
0.00001
|
|
NM_000531.6(OTC):c.717+5G>A
|
rs747637190
|
0.00001
|
|
NM_000531.6(OTC):c.722G>A (p.Gly241Asp)
|
rs1461226043
|
0.00001
|
|
NM_000531.6(OTC):c.736C>G (p.Leu246Val)
|
rs1168053730
|
0.00001
|
|
NM_000531.6(OTC):c.77+7G>A
|
rs745462108
|
0.00001
|
|
NM_000531.6(OTC):c.774T>C (p.Asn258=)
|
rs777282515
|
0.00001
|
|
NM_000531.6(OTC):c.777A>G (p.Val259=)
|
rs1231550367
|
0.00001
|
|
NM_000531.6(OTC):c.867+8T>C
|
rs1190812009
|
0.00001
|
|
NM_000531.6(OTC):c.868-14C>T
|
rs1488225008
|
0.00001
|
|
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
|
rs756772340
|
0.00001
|
|
NM_000531.6(OTC):c.945C>A (p.Val315=)
|
rs1296441032
|
0.00001
|
|
NM_000532.5(PCCB):c.1008T>C (p.Tyr336=)
|
rs769437282
|
0.00001
|
|
NM_000532.5(PCCB):c.1022T>C (p.Ile341Thr)
|
rs757258397
|
0.00001
|
|
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser)
|
rs747309318
|
0.00001
|
|
NM_000532.5(PCCB):c.1091-14C>A
|
rs1053805085
|
0.00001
|
|
NM_000532.5(PCCB):c.1091-6T>C
|
rs778146041
|
0.00001
|
|
NM_000532.5(PCCB):c.1096T>C (p.Leu366=)
|
rs779828803
|
0.00001
|
|
NM_000532.5(PCCB):c.1104T>C (p.Ile368=)
|
rs768328410
|
0.00001
|
|
NM_000532.5(PCCB):c.1107T>C (p.Asn369=)
|
rs1025062139
|
0.00001
|
|
NM_000532.5(PCCB):c.1140C>G (p.Phe380Leu)
|
rs1277882976
|
0.00001
|
|
NM_000532.5(PCCB):c.1145A>G (p.Asp382Gly)
|
rs201138170
|
0.00001
|
|
NM_000532.5(PCCB):c.116T>C (p.Ile39Thr)
|
rs182412270
|
0.00001
|
|
NM_000532.5(PCCB):c.1173T>C (p.Phe391=)
|
rs751750136
|
0.00001
|
|
NM_000532.5(PCCB):c.1198+19G>A
|
rs923951408
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-4C>T
|
rs1361484856
|
0.00001
|
|
NM_000532.5(PCCB):c.1199-8A>G
|
rs886058019
|
0.00001
|
|
NM_000532.5(PCCB):c.1224C>T (p.Ile408=)
|
rs773701247
|
0.00001
|
|
NM_000532.5(PCCB):c.1251C>T (p.Tyr417=)
|
rs781546348
|
0.00001
|
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
|
NM_000532.5(PCCB):c.128G>A (p.Arg43His)
|
rs1941481863
|
0.00001
|
|
NM_000532.5(PCCB):c.1299G>C (p.Lys433Asn)
|
rs774942448
|
0.00001
|
|
NM_000532.5(PCCB):c.1300-11A>G
|
rs200406126
|
0.00001
|
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
|
NM_000532.5(PCCB):c.1302C>T (p.Ala434=)
|
rs755024380
|
0.00001
|
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
|
NM_000532.5(PCCB):c.130C>T (p.Arg44Trp)
|
rs749210374
|
0.00001
|
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
|
NM_000532.5(PCCB):c.1344T>C (p.Cys448=)
|
rs1306702510
|
0.00001
|
|
NM_000532.5(PCCB):c.1368C>T (p.Pro456=)
|
rs776005238
|
0.00001
|
|
NM_000532.5(PCCB):c.1370C>T (p.Thr457Ile)
|
rs1301343613
|
0.00001
|
|
NM_000532.5(PCCB):c.1378A>G (p.Ile460Val)
|
rs376998134
|
0.00001
|
|
NM_000532.5(PCCB):c.1383A>C (p.Ala461=)
|
rs1354285306
|
0.00001
|
|
NM_000532.5(PCCB):c.1399-10C>T
|
rs774180307
|
0.00001
|
|
NM_000532.5(PCCB):c.1399-2_1399-1del
|
rs1317123493
|
0.00001
|
|
NM_000532.5(PCCB):c.139C>G (p.Leu47Val)
|
rs199935380
|
0.00001
|
|
NM_000532.5(PCCB):c.1401C>T (p.Gly467=)
|
rs142915585
|
0.00001
|
|
NM_000532.5(PCCB):c.142C>T (p.Leu48=)
|
rs376983709
|
0.00001
|
|
NM_000532.5(PCCB):c.1431G>A (p.Glu477=)
|
rs989893902
|
0.00001
|
|
NM_000532.5(PCCB):c.143T>G (p.Leu48Arg)
|
rs1368586445
|
0.00001
|
|
NM_000532.5(PCCB):c.1444G>T (p.Ala482Ser)
|
rs752000929
|
0.00001
|
|
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
|
rs143190442
|
0.00001
|
|
NM_000532.5(PCCB):c.1481T>C (p.Phe494Ser)
|
rs1935428949
|
0.00001
|
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
|
NM_000532.5(PCCB):c.1499-6C>T
|
rs769854818
|
0.00001
|
|
NM_000532.5(PCCB):c.1502T>C (p.Phe501Ser)
|
rs1483082276
|
0.00001
|
|
NM_000532.5(PCCB):c.1504G>A (p.Val502Met)
|
rs763024986
|
0.00001
|
|
NM_000532.5(PCCB):c.1521A>G (p.Gln507=)
|
rs774461715
|
0.00001
|
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
|
NM_000532.5(PCCB):c.1614A>G (p.Pro538=)
|
rs767287287
|
0.00001
|
|
NM_000532.5(PCCB):c.168C>T (p.Asp56=)
|
rs759008477
|
0.00001
|
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
|
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln)
|
rs909550005
|
0.00001
|
|
NM_000532.5(PCCB):c.183+12_183+31dup
|
rs745694339
|
0.00001
|
|
NM_000532.5(PCCB):c.183+7C>G
|
rs1039491317
|
0.00001
|
|
NM_000532.5(PCCB):c.27G>A (p.Ala9=)
|
rs1402404407
|
0.00001
|
|
NM_000532.5(PCCB):c.297G>A (p.Lys99=)
|
rs768256081
|
0.00001
|
|
NM_000532.5(PCCB):c.303+13A>G
|
rs533887723
|
0.00001
|
|
NM_000532.5(PCCB):c.305T>G (p.Phe102Cys)
|
rs1248879007
|
0.00001
|
|
NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)
|
rs757860152
|
0.00001
|
|
NM_000532.5(PCCB):c.321G>C (p.Val107=)
|
rs201915067
|
0.00001
|
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
|
NM_000532.5(PCCB):c.332G>A (p.Arg111Gln)
|
rs757534748
|
0.00001
|
|
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter)
|
rs186031457
|
0.00001
|
|
NM_000532.5(PCCB):c.348A>G (p.Gly116=)
|
rs1057522223
|
0.00001
|
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
|
NM_000532.5(PCCB):c.373-13A>G
|
rs1559997795
|
0.00001
|
|
NM_000532.5(PCCB):c.373-7T>G
|
rs995479007
|
0.00001
|
|
NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)
|
rs1941477030
|
0.00001
|
|
NM_000532.5(PCCB):c.3G>A (p.Met1Ile)
|
rs398123464
|
0.00001
|
|
NM_000532.5(PCCB):c.414C>T (p.Ala138=)
|
rs781142631
|
0.00001
|
|
NM_000532.5(PCCB):c.460C>T (p.Pro154Ser)
|
rs1468203736
|
0.00001
|
|
NM_000532.5(PCCB):c.46G>T (p.Val16Phe)
|
rs780842004
|
0.00001
|
|
NM_000532.5(PCCB):c.483T>G (p.Ser161=)
|
rs751200837
|
0.00001
|
|
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp)
|
rs754752068
|
0.00001
|
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
|
NM_000532.5(PCCB):c.507A>C (p.Gly169=)
|
rs1334504053
|
0.00001
|
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
|
NM_000532.5(PCCB):c.544-4G>A
|
rs1390317726
|
0.00001
|
|
NM_000532.5(PCCB):c.54G>A (p.Ala18=)
|
rs1343618692
|
0.00001
|
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
|
NM_000532.5(PCCB):c.580T>G (p.Ser194Ala)
|
rs1237531952
|
0.00001
|
|
NM_000532.5(PCCB):c.583C>G (p.Leu195Val)
|
rs747267484
|
0.00001
|
|
NM_000532.5(PCCB):c.597A>G (p.Pro199=)
|
rs773799305
|
0.00001
|
|
NM_000532.5(PCCB):c.627C>T (p.Ala209=)
|
rs1157323383
|
0.00001
|
|
NM_000532.5(PCCB):c.630A>C (p.Leu210=)
|
rs1269554950
|
0.00001
|
|
NM_000532.5(PCCB):c.630A>G (p.Leu210=)
|
rs1269554950
|
0.00001
|
|
NM_000532.5(PCCB):c.63C>G (p.Leu21=)
|
rs1941478618
|
0.00001
|
|
NM_000532.5(PCCB):c.645C>T (p.Phe215=)
|
rs1250882565
|
0.00001
|
|
NM_000532.5(PCCB):c.646A>G (p.Met216Val)
|
rs747252352
|
0.00001
|
|
NM_000532.5(PCCB):c.654+14G>T
|
rs1457950469
|
0.00001
|
|
NM_000532.5(PCCB):c.660C>T (p.Thr220=)
|
rs376645261
|
0.00001
|
|
NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)
|
rs772483250
|
0.00001
|
|
NM_000532.5(PCCB):c.719C>T (p.Thr240Ile)
|
rs762986402
|
0.00001
|
|
NM_000532.5(PCCB):c.723G>A (p.Gln241=)
|
rs751695055
|
0.00001
|
|
NM_000532.5(PCCB):c.732C>T (p.Leu244=)
|
rs752940167
|
0.00001
|
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
|
NM_000532.5(PCCB):c.741C>T (p.Ala247=)
|
rs191115697
|
0.00001
|
|
NM_000532.5(PCCB):c.743A>G (p.Lys248Arg)
|
rs1365706286
|
0.00001
|
|
NM_000532.5(PCCB):c.746C>T (p.Thr249Ile)
|
rs779581071
|
0.00001
|
|
NM_000532.5(PCCB):c.747C>T (p.Thr249=)
|
rs746448544
|
0.00001
|
|
NM_000532.5(PCCB):c.758T>C (p.Met253Thr)
|
rs747881252
|
0.00001
|
|
NM_000532.5(PCCB):c.75C>T (p.Val25=)
|
rs761030422
|
0.00001
|
|
NM_000532.5(PCCB):c.787A>G (p.Asn263Asp)
|
rs529945350
|
0.00001
|
|
NM_000532.5(PCCB):c.788A>G (p.Asn263Ser)
|
rs749071200
|
0.00001
|
|
NM_000532.5(PCCB):c.801C>T (p.Ala267=)
|
rs759508806
|
0.00001
|
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
|
NM_000532.5(PCCB):c.825dup (p.Asn276fs)
|
rs748393514
|
0.00001
|
|
NM_000532.5(PCCB):c.86G>T (p.Cys29Phe)
|
rs765843410
|
0.00001
|
|
NM_000532.5(PCCB):c.876C>G (p.His292Gln)
|
rs776893713
|
0.00001
|
|
NM_000532.5(PCCB):c.884+14C>T
|
rs372020160
|
0.00001
|
|
NM_000532.5(PCCB):c.884+15G>A
|
rs374909979
|
0.00001
|
|
NM_000532.5(PCCB):c.885-7C>T
|
rs1427637783
|
0.00001
|
|
NM_000532.5(PCCB):c.888C>T (p.Asp296=)
|
rs753285409
|
0.00001
|
|
NM_000532.5(PCCB):c.907G>C (p.Asp303His)
|
rs943266027
|
0.00001
|
|
NM_000532.5(PCCB):c.909C>T (p.Asp303=)
|
rs375740382
|
0.00001
|
|
NM_000532.5(PCCB):c.920C>T (p.Pro307Leu)
|
rs1370289032
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
|
NM_000532.5(PCCB):c.942C>T (p.Tyr314=)
|
rs572246667
|
0.00001
|
|
NM_000532.5(PCCB):c.943A>G (p.Asn315Asp)
|
rs1456890228
|
0.00001
|
|
NM_000532.5(PCCB):c.944A>G (p.Asn315Ser)
|
rs558836100
|
0.00001
|
|
NM_000532.5(PCCB):c.966+20G>A
|
rs778065472
|
0.00001
|
|
NM_000532.5(PCCB):c.966+9C>T
|
rs1325021223
|
0.00001
|
|
NM_000532.5(PCCB):c.966T>C (p.Ser322=)
|
rs1269805994
|
0.00001
|
|
NM_000532.5(PCCB):c.967-3C>T
|
rs1186569803
|
0.00001
|
|
NM_000532.5(PCCB):c.975T>C (p.Asp325=)
|
rs746146640
|
0.00001
|
|
NM_000532.5(PCCB):c.978G>A (p.Glu326=)
|
rs1419967211
|
0.00001
|
|
NM_000532.5(PCCB):c.979C>T (p.Arg327Cys)
|
rs377660729
|
0.00001
|
|
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
|
rs749738655
|
0.00001
|
|
NM_000554.6(CRX):c.119G>A (p.Arg40Gln)
|
rs771450991
|
0.00001
|
|
NM_000554.6(CRX):c.11A>G (p.Tyr4Cys)
|
rs1211313175
|
0.00001
|
|
NM_000554.6(CRX):c.121C>T (p.Arg41Trp)
|
rs104894672
|
0.00001
|
|
NM_000554.6(CRX):c.122G>A (p.Arg41Gln)
|
rs61748436
|
0.00001
|
|
NM_000554.6(CRX):c.128G>A (p.Arg43His)
|
rs771736389
|
0.00001
|
|
NM_000554.6(CRX):c.140C>T (p.Thr47Ile)
|
rs1203670123
|
0.00001
|
|
NM_000554.6(CRX):c.142C>T (p.Arg48Trp)
|
rs761797993
|
0.00001
|
|
NM_000554.6(CRX):c.195C>T (p.Asp65=)
|
rs757731373
|
0.00001
|
|
NM_000554.6(CRX):c.205C>T (p.Arg69Cys)
|
rs771551785
|
0.00001
|
|
NM_000554.6(CRX):c.20C>T (p.Pro7Leu)
|
rs558522333
|
0.00001
|
|
NM_000554.6(CRX):c.225G>T (p.Lys75Asn)
|
rs1568624864
|
0.00001
|
|
NM_000554.6(CRX):c.253-7C>G
|
rs754128724
|
0.00001
|
|
NM_000554.6(CRX):c.269G>A (p.Arg90Gln)
|
rs1209634994
|
0.00001
|
|
NM_000554.6(CRX):c.273G>A (p.Arg91=)
|
rs1254989456
|
0.00001
|
|
NM_000554.6(CRX):c.343C>T (p.Arg115Trp)
|
rs1056691132
|
0.00001
|
|
NM_000554.6(CRX):c.363G>A (p.Ala121=)
|
rs141888455
|
0.00001
|
|
NM_000554.6(CRX):c.367A>G (p.Thr123Ala)
|
rs755554804
|
0.00001
|
|
NM_000554.6(CRX):c.412A>G (p.Ile138Val)
|
rs373934471
|
0.00001
|
|
NM_000554.6(CRX):c.433C>T (p.Pro145Ser)
|
rs149300196
|
0.00001
|
|
NM_000554.6(CRX):c.439C>T (p.Pro147Ser)
|
rs1173779531
|
0.00001
|
|
NM_000554.6(CRX):c.43G>A (p.Ala15Thr)
|
rs559181643
|
0.00001
|
|
NM_000554.6(CRX):c.43G>C (p.Ala15Pro)
|
rs559181643
|
0.00001
|
|
NM_000554.6(CRX):c.526C>G (p.Arg176Gly)
|
rs543243551
|
0.00001
|
|
NM_000554.6(CRX):c.560C>T (p.Thr187Ile)
|
rs758125850
|
0.00001
|
|
NM_000554.6(CRX):c.632C>T (p.Pro211Leu)
|
rs559042370
|
0.00001
|
|
NM_000554.6(CRX):c.673A>C (p.Met225Leu)
|
rs765976845
|
0.00001
|
|
NM_000554.6(CRX):c.688G>C (p.Gly230Arg)
|
rs1461832129
|
0.00001
|
|
NM_000554.6(CRX):c.696G>A (p.Pro232=)
|
rs1466177047
|
0.00001
|
|
NM_000554.6(CRX):c.726G>A (p.Val242=)
|
rs371406142
|
0.00001
|
|
NM_000554.6(CRX):c.740C>T (p.Ala247Val)
|
rs1196719242
|
0.00001
|
|
NM_000554.6(CRX):c.806_809dup (p.Lys270fs)
|
rs1968173706
|
0.00001
|
|
NM_000554.6(CRX):c.846C>A (p.Pro282=)
|
rs1172429450
|
0.00001
|
|
NM_000554.6(CRX):c.8C>T (p.Ala3Val)
|
rs762715327
|
0.00001
|
|
NM_000687.4(AHCY):c.1015C>T (p.Leu339=)
|
rs373915089
|
0.00001
|
|
NM_000687.4(AHCY):c.110A>T (p.Glu37Val)
|
rs746513037
|
0.00001
|
|
NM_000687.4(AHCY):c.1190C>T (p.Ala397Val)
|
rs202122223
|
0.00001
|
|
NM_000687.4(AHCY):c.1236G>A (p.Lys412=)
|
rs756185456
|
0.00001
|
|
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys)
|
rs369428934
|
0.00001
|
|
NM_000687.4(AHCY):c.219+8C>T
|
rs768480898
|
0.00001
|
|
NM_000687.4(AHCY):c.309G>A (p.Lys103=)
|
rs201902693
|
0.00001
|
|
NM_000687.4(AHCY):c.317C>T (p.Thr106Met)
|
rs910267027
|
0.00001
|
|
NM_000687.4(AHCY):c.558+13G>T
|
rs2297750
|
0.00001
|
|
NM_000687.4(AHCY):c.61G>A (p.Ala21Thr)
|
rs754753419
|
0.00001
|
|
NM_000687.4(AHCY):c.639C>T (p.Gly213=)
|
rs757357954
|
0.00001
|
|
NM_000687.4(AHCY):c.718A>G (p.Ile240Val)
|
rs747198963
|
0.00001
|
|
NM_000687.4(AHCY):c.808A>G (p.Asn270Asp)
|
rs756816446
|
0.00001
|
|
NM_000687.4(AHCY):c.875A>G (p.Asp292Gly)
|
rs1234006772
|
0.00001
|
|
NM_000687.4(AHCY):c.936C>T (p.Asn312=)
|
rs528770765
|
0.00001
|
|
NM_000687.4(AHCY):c.942C>T (p.Asn314=)
|
rs767550579
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys)
|
rs182923857
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1038C>T (p.Arg346=)
|
rs1469254740
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1053C>T (p.Val351=)
|
rs1480623363
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1055A>G (p.Asn352Ser)
|
rs766755823
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1094G>A (p.Arg365Gln)
|
rs375957868
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1104G>T (p.Leu368=)
|
rs749040007
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1137G>A (p.Glu379=)
|
rs935233075
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1149G>A (p.Arg383=)
|
rs190202447
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1158C>T (p.Ser386=)
|
rs1301881882
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1160G>A (p.Arg387His)
|
rs1052314774
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1167+9G>T
|
rs1365135243
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1168-5C>T
|
rs1196167996
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1176G>A (p.Glu392=)
|
rs767493580
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1224C>T (p.Leu408=)
|
rs368383404
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1257G>A (p.Gln419=)
|
rs1234860232
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1262G>A (p.Arg421His)
|
rs535975575
|
0.00001
|
|
NM_000709.4(BCKDHA):c.127C>T (p.Gln43Ter)
|
rs374625613
|
0.00001
|
|
NM_000709.4(BCKDHA):c.129G>A (p.Gln43=)
|
rs1355693373
|
0.00001
|
|
NM_000709.4(BCKDHA):c.130C>T (p.Gln44Ter)
|
rs1220443382
|
0.00001
|
|
NM_000709.4(BCKDHA):c.1317A>G (p.Pro439=)
|
rs749795206
|
0.00001
|
|
NM_000709.4(BCKDHA):c.177G>A (p.Ala59=)
|
rs750926317
|
0.00001
|
|
NM_000709.4(BCKDHA):c.192G>A (p.Lys64=)
|
rs755750415
|
0.00001
|
|
NM_000709.4(BCKDHA):c.240C>T (p.Arg80=)
|
rs143167070
|
0.00001
|
|
NM_000709.4(BCKDHA):c.249C>T (p.Asp83=)
|
rs398123495
|
0.00001
|
|
NM_000709.4(BCKDHA):c.277G>A (p.Glu93Lys)
|
rs753452195
|
0.00001
|
|
NM_000709.4(BCKDHA):c.27G>A (p.Arg9=)
|
rs545537409
|
0.00001
|
|
NM_000709.4(BCKDHA):c.288+7G>A
|
rs780156666
|
0.00001
|
|
NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)
|
rs764284154
|
0.00001
|
|
NM_000709.4(BCKDHA):c.371G>A (p.Arg124Gln)
|
rs752700457
|
0.00001
|
|
NM_000709.4(BCKDHA):c.375+10G>A
|
rs933606851
|
0.00001
|
|
NM_000709.4(BCKDHA):c.402C>T (p.Asn134=)
|
rs201638798
|
0.00001
|
|
NM_000709.4(BCKDHA):c.424G>A (p.Val142Met)
|
rs750226738
|
0.00001
|
|
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=)
|
rs369278165
|
0.00001
|
|
NM_000709.4(BCKDHA):c.449A>G (p.Asn150Ser)
|
rs2039284627
|
0.00001
|
|
NM_000709.4(BCKDHA):c.475C>T (p.Arg159Trp)
|
rs769688327
|
0.00001
|
|
NM_000709.4(BCKDHA):c.47G>A (p.Gly16Asp)
|
rs766174938
|
0.00001
|
|
NM_000709.4(BCKDHA):c.492G>C (p.Leu164=)
|
rs764618560
|
0.00001
|
|
NM_000709.4(BCKDHA):c.497A>T (p.Tyr166Phe)
|
rs2039337230
|
0.00001
|
|
NM_000709.4(BCKDHA):c.499C>T (p.Arg167Trp)
|
rs398123502
|
0.00001
|
|
NM_000709.4(BCKDHA):c.504C>T (p.Asp168=)
|
rs750857655
|
0.00001
|
|
NM_000709.4(BCKDHA):c.510C>G (p.Pro170=)
|
rs1163026059
|
0.00001
|
|
NM_000709.4(BCKDHA):c.59C>T (p.Ala20Val)
|
rs1159645644
|
0.00001
|
|
NM_000709.4(BCKDHA):c.615C>T (p.Ile205=)
|
rs768600012
|
0.00001
|
|
NM_000709.4(BCKDHA):c.618C>T (p.Ser206=)
|
rs144995574
|
0.00001
|
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
|
NM_000709.4(BCKDHA):c.646+12T>C
|
rs777143993
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647-8C>T
|
rs763820194
|
0.00001
|
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
|
NM_000709.4(BCKDHA):c.656C>T (p.Ala219Val)
|
rs532361185
|
0.00001
|
|
NM_000709.4(BCKDHA):c.657G>A (p.Ala219=)
|
rs770514966
|
0.00001
|
|
NM_000709.4(BCKDHA):c.660G>A (p.Ala220=)
|
rs547571406
|
0.00001
|
|
NM_000709.4(BCKDHA):c.681T>C (p.Asn227=)
|
rs1015416257
|
0.00001
|
|
NM_000709.4(BCKDHA):c.684C>T (p.Ala228=)
|
rs771485726
|
0.00001
|
|
NM_000709.4(BCKDHA):c.693C>T (p.Val231=)
|
rs763610087
|
0.00001
|
|
NM_000709.4(BCKDHA):c.699C>A (p.Ile233=)
|
rs1367109275
|
0.00001
|
|
NM_000709.4(BCKDHA):c.729G>A (p.Glu243=)
|
rs373175569
|
0.00001
|
|
NM_000709.4(BCKDHA):c.732G>A (p.Gly244=)
|
rs1192566664
|
0.00001
|
|
NM_000709.4(BCKDHA):c.735C>T (p.Asp245=)
|
rs766357034
|
0.00001
|
|
NM_000709.4(BCKDHA):c.736G>A (p.Ala246Thr)
|
rs536540966
|
0.00001
|
|
NM_000709.4(BCKDHA):c.73C>T (p.Leu25=)
|
rs778388437
|
0.00001
|
|
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)
|
rs137852874
|
0.00001
|
|
NM_000709.4(BCKDHA):c.756C>T (p.Phe252=)
|
rs756393197
|
0.00001
|
|
NM_000709.4(BCKDHA):c.757G>A (p.Ala253Thr)
|
rs199599175
|
0.00001
|
|
NM_000709.4(BCKDHA):c.758C>G (p.Ala253Gly)
|
rs1213596075
|
0.00001
|
|
NM_000709.4(BCKDHA):c.787T>C (p.Phe263Leu)
|
rs771360993
|
0.00001
|
|
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
|
rs137852873
|
0.00001
|
|
NM_000709.4(BCKDHA):c.808G>A (p.Ala270Thr)
|
rs765045050
|
0.00001
|
|
NM_000709.4(BCKDHA):c.854-2A>G
|
rs760494152
|
0.00001
|
|
NM_000709.4(BCKDHA):c.860G>A (p.Arg287Gln)
|
rs757457825
|
0.00001
|
|
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg)
|
rs137852871
|
0.00001
|
|
NM_000709.4(BCKDHA):c.884C>A (p.Ser295Ter)
|
rs1318419473
|
0.00001
|
|
NM_000709.4(BCKDHA):c.919T>C (p.Tyr307His)
|
rs138261404
|
0.00001
|
|
NM_000709.4(BCKDHA):c.940C>T (p.Arg314Ter)
|
rs753698250
|
0.00001
|
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
|
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys)
|
rs398123515
|
0.00001
|
|
NM_000709.4(BCKDHA):c.995+10G>A
|
rs778460909
|
0.00001
|
|
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)
|
rs770513953
|
0.00001
|
|
NM_001002755.4(NFU1):c.300T>C (p.Ala100=)
|
rs201828730
|
0.00001
|
|
NM_001002755.4(NFU1):c.370-4A>G
|
rs1673014101
|
0.00001
|
|
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)
|
rs769275443
|
0.00001
|
|
NM_001002755.4(NFU1):c.420A>T (p.Thr140=)
|
rs768949114
|
0.00001
|
|
NM_001002755.4(NFU1):c.545+7G>T
|
rs750179976
|
0.00001
|
|
NM_001002755.4(NFU1):c.699G>A (p.Pro233=)
|
rs200732109
|
0.00001
|
|
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr)
|
rs755628436
|
0.00001
|
|
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser)
|
rs778284446
|
0.00001
|
|
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser)
|
rs1168294957
|
0.00001
|
|
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr)
|
rs1186238890
|
0.00001
|
|
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)
|
rs1191467500
|
0.00001
|
|
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)
|
rs1298056442
|
0.00001
|
|
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp)
|
rs775646159
|
0.00001
|
|
NM_001010867.4(IBA57):c.471G>A (p.Leu157=)
|
rs540662509
|
0.00001
|
|
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu)
|
rs1403342810
|
0.00001
|
|
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys)
|
rs1324456932
|
0.00001
|
|
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp)
|
rs368114681
|
0.00001
|
|
NM_001010867.4(IBA57):c.639C>T (p.Leu213=)
|
rs751616087
|
0.00001
|
|
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala)
|
rs769063859
|
0.00001
|
|
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys)
|
rs143575106
|
0.00001
|
|
NM_001010867.4(IBA57):c.827G>A (p.Arg276His)
|
rs1245306816
|
0.00001
|
|
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly)
|
rs951070079
|
0.00001
|
|
NM_001010867.4(IBA57):c.955C>T (p.Leu319=)
|
rs186655921
|
0.00001
|
|
NM_001017989.3(OPA3):c.534C>T (p.Ser178=)
|
rs1162879805
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1035C>T (p.Leu345=)
|
rs571108267
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1116C>T (p.Pro372=)
|
rs752071690
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1144C>T (p.Pro382Ser)
|
rs1336348098
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1218G>A (p.Thr406=)
|
rs1366466556
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1335+11C>T
|
rs375920422
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1441C>T (p.Arg481Trp)
|
rs755142891
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1543C>T (p.Leu515=)
|
rs767975291
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1572G>A (p.Pro524=)
|
rs763994500
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1685C>T (p.Thr562Ile)
|
rs756857614
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1697C>A (p.Thr566Asn)
|
rs1331993313
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1815C>T (p.Phe605=)
|
rs746391409
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.1844C>T (p.Ala615Val)
|
rs202156666
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.189C>T (p.Gly63=)
|
rs780398424
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.31-6191C>T
|
rs200396487
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.31-6225G>A
|
rs201727215
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.31-684G>T
|
rs1571886606
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.31-693C>T
|
rs1236884799
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.357C>T (p.Ile119=)
|
rs201434525
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.664G>A (p.Gly222Ser)
|
rs143087050
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.762G>C (p.Leu254=)
|
rs1270315807
|
0.00001
|
|
NM_001024845.3(SLC6A9):c.793G>A (p.Glu265Lys)
|
rs199830284
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1015-2A>C
|
rs769111673
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.104_127del (p.Ser35_Gln43delinsTer)
|
rs1561865665
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1081G>A (p.Ala361Thr)
|
rs1759722342
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1082C>T (p.Ala361Val)
|
rs763860786
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1083C>T (p.Ala361=)
|
rs111525061
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1084G>A (p.Glu362Lys)
|
rs1222413080
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1102C>T (p.Leu368=)
|
rs767434033
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1105C>T (p.Arg369Cys)
|
rs772038058
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.110C>T (p.Pro37Leu)
|
rs1764663428
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.113C>T (p.Ala38Val)
|
rs772101716
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.116C>G (p.Pro39Arg)
|
rs1251540347
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1174-9A>C
|
rs370984312
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.118G>C (p.Gly40Arg)
|
rs1326202301
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1191T>G (p.Asn397Lys)
|
rs923140210
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1192G>C (p.Asp398His)
|
rs894412564
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1197C>T (p.Ala399=)
|
rs747534238
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1216G>A (p.Val406Ile)
|
rs143741652
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)
|
rs118203984
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.122C>T (p.Pro41Leu)
|
rs1764664671
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1235G>A (p.Arg412Gln)
|
rs760658291
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1252A>C (p.Asn418His)
|
rs759646740
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1255T>G (p.Phe419Val)
|
rs1219635429
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1310A>G (p.Glu437Gly)
|
rs201834553
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.137G>A (p.Cys46Tyr)
|
rs1397377730
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1403-17_1403-15dup
|
rs1454619327
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1403-18C>A
|
rs757181768
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.141C>T (p.Tyr47=)
|
rs1182147990
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1439G>A (p.Arg480Lys)
|
rs1055012664
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1473C>T (p.Gly491=)
|
rs369192820
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)
|
rs776978579
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.147G>T (p.Gly49=)
|
rs1262777866
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1534C>G (p.Leu512Val)
|
rs1226094055
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.154G>A (p.Ala52Thr)
|
rs886043944
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1565A>G (p.Asp522Gly)
|
rs777938693
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter)
|
rs1421988285
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)
|
rs953870735
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.186C>T (p.Asp62=)
|
rs1346879524
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.189C>G (p.Ser63Arg)
|
rs1288315589
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.199G>A (p.Gly67Ser)
|
rs904596298
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.202C>T (p.Arg68Cys)
|
rs1336249565
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.20T>G (p.Leu7Arg)
|
rs774379306
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.213G>A (p.Pro71=)
|
rs1220581277
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.219C>A (p.Ala73=)
|
rs1200016885
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.21G>A (p.Leu7=)
|
rs762014234
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.230C>T (p.Pro77Leu)
|
rs1417067364
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.231C>G (p.Pro77=)
|
rs1160948222
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.258T>C (p.Ala86=)
|
rs1225985397
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.259C>G (p.Leu87Val)
|
rs1764671047
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.267G>A (p.Met89Ile)
|
rs964260186
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.276del (p.Cys93fs)
|
rs1294269013
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.290A>G (p.Glu97Gly)
|
rs1479579407
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.291G>A (p.Glu97=)
|
rs973569793
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.317A>G (p.Tyr106Cys)
|
rs1581801050
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.319G>C (p.Glu107Gln)
|
rs867767856
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.354+7G>A
|
rs1171725478
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.355G>A (p.Glu119Lys)
|
rs763173446
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.374G>A (p.Arg125Gln)
|
rs753604213
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.411C>A (p.Asp137Glu)
|
rs1216101332
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.432T>C (p.Ala144=)
|
rs746895751
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.439-7A>G
|
rs1437395260
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.461A>G (p.His154Arg)
|
rs141686677
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.481G>A (p.Ala161Thr)
|
rs139486423
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.514C>T (p.Arg172Cys)
|
rs551902853
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)
|
rs773814880
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.532A>G (p.Ile178Val)
|
rs751365223
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.541A>G (p.Thr181Ala)
|
rs975269028
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.54G>A (p.Thr18=)
|
rs1254730579
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.595G>A (p.Ala199Thr)
|
rs775136518
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.603C>A (p.Ile201=)
|
rs145003796
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)
|
rs906284769
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.609+5G>T
|
rs376633237
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.610-2A>G
|
rs1301821497
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.615T>C (p.Asn205=)
|
rs1759307160
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.649G>A (p.Ala217Thr)
|
rs1064796319
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.675C>T (p.Val225=)
|
rs776598651
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)
|
rs757605946
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.711C>T (p.Ala237=)
|
rs893040301
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.781C>G (p.Arg261Gly)
|
rs774496720
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.783A>G (p.Arg261=)
|
rs761068786
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.786G>C (p.Lys262Asn)
|
rs766715554
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.793A>G (p.Lys265Glu)
|
rs760040470
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.798A>T (p.Glu266Asp)
|
rs751098237
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.848C>G (p.Thr283Ser)
|
rs1759548002
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.885C>T (p.His295=)
|
rs367554353
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.88G>A (p.Gly30Ser)
|
rs1171926592
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.923G>A (p.Gly308Asp)
|
rs766161222
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.925G>A (p.Gly309Ser)
|
rs768719885
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.958A>G (p.Asn320Asp)
|
rs912930280
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.967_968dup (p.Gln323fs)
|
rs747336313
|
0.00001
|
|
NM_001080.3(ALDH5A1):c.978A>T (p.Ala326=)
|
rs1234197652
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1071T>C (p.Gly357=)
|
rs1240852774
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=)
|
rs762033223
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser)
|
rs1064795477
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg)
|
rs749309558
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.117C>T (p.Gly39=)
|
rs374304094
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=)
|
rs559232599
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=)
|
rs751952553
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg)
|
rs1448345243
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1256-18A>G
|
rs1369047772
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn)
|
rs1600346973
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser)
|
rs1426869372
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1333A>G (p.Ile445Val)
|
rs1188726884
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1346-7C>A
|
rs754052378
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=)
|
rs764813421
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg)
|
rs769335170
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)
|
rs886043657
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His)
|
rs761827501
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1441C>T (p.Arg481Cys)
|
rs377011125
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)
|
rs121908240
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1556-12T>C
|
rs749749321
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys)
|
rs886039322
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile)
|
rs752572390
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)
|
rs762262807
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1644T>C (p.Ser548=)
|
rs772855559
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=)
|
rs866879440
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+10C>T
|
rs545368463
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+11T>C
|
rs200980685
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1668+19A>G
|
rs771087905
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1669-17C>T
|
rs755846938
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)
|
rs767207007
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=)
|
rs371827685
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782-5G>A
|
rs1085307739
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1804C>T (p.Leu602=)
|
rs16014
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=)
|
rs560241650
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1848G>A (p.Leu616=)
|
rs1164864162
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=)
|
rs774629539
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr)
|
rs577006493
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)
|
rs769887736
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser)
|
rs943419160
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1913+8C>T
|
rs770833278
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=)
|
rs747730451
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=)
|
rs371952989
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=)
|
rs764413479
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=)
|
rs940460024
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=)
|
rs1170735669
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=)
|
rs750324942
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=)
|
rs774083779
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=)
|
rs768332997
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr)
|
rs775081414
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=)
|
rs1417918847
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=)
|
rs762654239
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=)
|
rs764839814
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2172+8C>T
|
rs200277127
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2199G>A (p.Ala733=)
|
rs1463843521
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val)
|
rs200355966
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)
|
rs1382705855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)
|
rs1196111017
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=)
|
rs771044445
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=)
|
rs1375569922
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=)
|
rs562717028
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=)
|
rs1187115036
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=)
|
rs749958045
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=)
|
rs766996486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=)
|
rs996453280
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln)
|
rs953797733
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys)
|
rs1248783281
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2491C>T (p.Arg831Cys)
|
rs1464680327
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=)
|
rs1367532933
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser)
|
rs1057522204
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.255C>T (p.Asn85=)
|
rs1285665891
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=)
|
rs1222215404
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln)
|
rs1057518589
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His)
|
rs1178583020
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=)
|
rs1334069330
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val)
|
rs1309338929
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp)
|
rs1408152396
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=)
|
rs1361559490
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val)
|
rs746582791
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=)
|
rs1057524746
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=)
|
rs1462953587
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly)
|
rs2057731758
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=)
|
rs2057731363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)
|
rs1290079536
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu)
|
rs1487101039
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)
|
rs371957971
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2717G>A (p.Arg906Gln)
|
rs776495488
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly)
|
rs538079885
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2781C>T (p.Asp927=)
|
rs1216508972
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met)
|
rs767187794
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=)
|
rs761397410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)
|
rs746428515
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=)
|
rs1322679497
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly)
|
rs778220824
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)
|
rs754979047
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg)
|
rs527593196
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys)
|
rs16978975
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)
|
rs1442995931
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn)
|
rs923472334
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro)
|
rs1316264115
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys)
|
rs532842904
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=)
|
rs1229290225
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp)
|
rs1361244265
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)
|
rs778978325
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.294-17C>T
|
rs752007612
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly)
|
rs1489702072
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser)
|
rs2057722310
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val)
|
rs2057722221
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=)
|
rs1347561457
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro)
|
rs1424294725
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=)
|
rs1226532363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp)
|
rs772611976
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln)
|
rs1458500776
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro)
|
rs1273138619
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=)
|
rs554701306
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3234G>A (p.Ser1078=)
|
rs1331367408
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)
|
rs577581172
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3246C>T (p.His1082=)
|
rs556541935
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)
|
rs753077104
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=)
|
rs776799566
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr)
|
rs371820430
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=)
|
rs748999071
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn)
|
rs372823282
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu)
|
rs554455455
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)
|
rs375486960
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser)
|
rs1215692574
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3334A>C (p.Met1112Leu)
|
rs755317765
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu)
|
rs760744104
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=)
|
rs372364153
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)
|
rs374720207
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)
|
rs755440575
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val)
|
rs746955115
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3383C>T (p.Pro1128Leu)
|
rs754208553
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=)
|
rs185952971
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=)
|
rs767675502
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=)
|
rs781300443
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)
|
rs751700486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)
|
rs747917423
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val)
|
rs766027931
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3481A>G (p.Arg1161Gly)
|
rs760265407
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=)
|
rs1467183042
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg)
|
rs16028
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser)
|
rs1250790986
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=)
|
rs773844470
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3553+7C>G
|
rs878865349
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu)
|
rs763558455
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=)
|
rs757943547
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=)
|
rs976780203
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys)
|
rs761983146
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)
|
rs573365997
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)
|
rs753467037
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3692+20A>G
|
rs934863410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)
|
rs781738239
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3724C>T (p.Leu1242=)
|
rs1275961783
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=)
|
rs1238454656
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=)
|
rs944942986
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=)
|
rs1057523661
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg)
|
rs1202097056
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu)
|
rs1057522815
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3814C>T (p.Arg1272Trp)
|
rs372970430
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln)
|
rs372344357
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3882+10G>C
|
rs183712582
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3882+13T>C
|
rs779233415
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3883-5C>T
|
rs748652953
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3961A>G (p.Ser1321Gly)
|
rs2057136011
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.399+20A>G
|
rs1192777400
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.399+3G>A
|
rs1275496281
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.400-19T>C
|
rs2060943767
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4090-16C>G
|
rs758220361
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4143C>T (p.Ile1381=)
|
rs1244179413
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4170C>T (p.Phe1390=)
|
rs760102802
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4203A>G (p.Lys1401=)
|
rs1160017642
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg)
|
rs574194354
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=)
|
rs1173445536
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)
|
rs913405402
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=)
|
rs1052611146
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4389-15C>T
|
rs1356998435
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4389-7C>T
|
rs1417689500
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=)
|
rs755662617
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe)
|
rs2056601798
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=)
|
rs1600186663
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)
|
rs121908234
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu)
|
rs1322080885
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr)
|
rs369134549
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4590+12A>G
|
rs760554391
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4590+13A>G
|
rs1190654202
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr)
|
rs1004488897
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr)
|
rs761579946
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=)
|
rs966897092
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=)
|
rs370203027
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=)
|
rs201475701
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=)
|
rs751308492
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)
|
rs769043258
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)
|
rs943715197
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4821C>A (p.Leu1607=)
|
rs2056444098
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=)
|
rs1176237039
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr)
|
rs1469756019
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4866+6T>A
|
rs757178835
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys)
|
rs747020168
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr)
|
rs2056194193
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=)
|
rs1401183344
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5067+10C>T
|
rs549805937
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)
|
rs767743815
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)
|
rs201844207
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5134-11C>T
|
rs41276882
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5134-3C>T
|
rs576141199
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=)
|
rs751799133
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn)
|
rs766254024
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His)
|
rs773031818
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5249+8G>C
|
rs747305291
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5250-8G>C
|
rs1555737120
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=)
|
rs753902560
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=)
|
rs767315464
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5313T>C (p.Asp1771=)
|
rs2055674093
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=)
|
rs1294737592
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met)
|
rs773461333
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.539+11C>T
|
rs115447563
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.539+8G>T
|
rs372925573
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.540-9T>G
|
rs1172688314
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5400+7C>T
|
rs1046598864
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5400+8T>C
|
rs772508313
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=)
|
rs561301072
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=)
|
rs754521399
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5528+16G>A
|
rs775890060
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5528+6A>G
|
rs762224302
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5529-1268C>T
|
rs765557914
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5626-3T>C
|
rs2055372579
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5626-6C>G
|
rs769606952
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=)
|
rs1434572084
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5731+19C>T
|
rs1259224644
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5732-8C>T
|
rs1057521521
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg)
|
rs966699696
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=)
|
rs1229065392
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=)
|
rs760343725
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=)
|
rs770231014
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)
|
rs1205866071
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)
|
rs375365071
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=)
|
rs747273411
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5840-15dup
|
rs1428959852
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met)
|
rs748279762
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=)
|
rs751132291
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=)
|
rs768860392
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His)
|
rs1178337230
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala)
|
rs1303685302
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp)
|
rs1402384624
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=)
|
rs764448299
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)
|
rs759624463
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6050+9C>T
|
rs1401679003
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro)
|
rs774375692
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6051-11C>A
|
rs759586410
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=)
|
rs1282402038
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)
|
rs886043571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=)
|
rs2054850952
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp)
|
rs765421252
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=)
|
rs2059326322
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)
|
rs774164327
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-18T>C
|
rs751366127
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-4G>A
|
rs769551839
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-5C>T
|
rs368180309
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-8C>G
|
rs762766173
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)
|
rs370514102
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)
|
rs1057524336
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=)
|
rs781315895
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His)
|
rs1174830824
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser)
|
rs1259126760
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys)
|
rs757385012
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6303+14C>T
|
rs777901156
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6304-3C>T
|
rs1354563230
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser)
|
rs1376625416
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)
|
rs771030765
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)
|
rs868808043
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6340-9C>T
|
rs1297370748
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=)
|
rs1442058627
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=)
|
rs765072424
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His)
|
rs749172043
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=)
|
rs1456597171
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys)
|
rs371984902
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys)
|
rs780779363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)
|
rs751044309
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6456C>A (p.His2152Gln)
|
rs759949928
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)
|
rs766661019
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)
|
rs1198604369
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys)
|
rs746582303
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=)
|
rs781746273
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6526+6C>T
|
rs1366998583
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6527-5C>T
|
rs1193230442
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6527-8C>T
|
rs1265326582
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)
|
rs953871050
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile)
|
rs1335828021
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)
|
rs965819293
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
|
rs1325697290
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6582G>A (p.Glu2194=)
|
rs777446478
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu)
|
rs1168700437
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln)
|
rs1326871701
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=)
|
rs1219161255
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg)
|
rs1444251671
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)
|
rs1002423867
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=)
|
rs1281394713
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)
|
rs768221184
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)
|
rs757715357
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr)
|
rs2054683125
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=)
|
rs1392174465
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)
|
rs1317740666
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)
|
rs1376732755
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6706G>A (p.Gly2236Ser)
|
rs752808137
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6709C>T (p.Arg2237Trp)
|
rs1415336869
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6716G>A (p.Arg2239Gln)
|
rs753798870
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6732C>T (p.Arg2244=)
|
rs1406247650
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His)
|
rs1219651327
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6743C>T (p.Ser2248Leu)
|
rs1274796380
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6747C>T (p.Pro2249=)
|
rs747396290
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6750C>T (p.Ser2250=)
|
rs375958273
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6754G>A (p.Gly2252Ser)
|
rs1433873178
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6757C>T (p.Arg2253Ter)
|
rs1166102159
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6758G>A (p.Arg2253Gln)
|
rs752950486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6769G>A (p.Ala2257Thr)
|
rs1057523197
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6776G>A (p.Arg2259Gln)
|
rs201582095
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6780+7G>A
|
rs2054677545
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=)
|
rs1356192843
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.714T>C (p.Leu238=)
|
rs1451920573
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=)
|
rs1169274623
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.74T>G (p.Val25Gly)
|
rs565157998
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn)
|
rs1599292361
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.774A>G (p.Glu258=)
|
rs770324320
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.784+11G>A
|
rs757532272
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=)
|
rs944129354
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=)
|
rs748434655
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys)
|
rs1326606155
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile)
|
rs1250942113
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile)
|
rs1195270312
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=)
|
rs770448965
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=)
|
rs777059446
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=)
|
rs981058428
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.978+10G>T
|
rs1015293932
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.979-7C>T
|
rs1375150525
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)
|
rs1358680743
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=)
|
rs757799912
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)
|
rs747906365
|
0.00001
|
|
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=)
|
rs779450250
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)
|
rs1184733927
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=)
|
rs148716626
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=)
|
rs967555706
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=)
|
rs765752531
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)
|
rs750959933
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)
|
rs1373279774
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1127-7C>G
|
rs761564953
|
0.00001
|
|
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu)
|
rs747598756
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1212C>T (p.His404=)
|
rs750140114
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=)
|
rs766100388
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1239+9C>G
|
rs376238513
|
0.00001
|
|
NM_001243279.3(ACSF3):c.12T>C (p.His4=)
|
rs1210564027
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)
|
rs766764090
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)
|
rs1243213118
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser)
|
rs554194567
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=)
|
rs1321315792
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1366+8C>T
|
rs773327286
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=)
|
rs761654873
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)
|
rs387907119
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu)
|
rs1272786593
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1501+10C>T
|
rs375729407
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-10C>T
|
rs573043890
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-2A>G
|
rs1188774860
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1502-8A>G
|
rs760700508
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter)
|
rs387907118
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1613+1G>A
|
rs770400253
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=)
|
rs149803422
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=)
|
rs757338614
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=)
|
rs1025781878
|
0.00001
|
|
NM_001243279.3(ACSF3):c.1722C>T (p.His574=)
|
rs757130082
|
0.00001
|
|
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly)
|
rs780402535
|
0.00001
|
|
NM_001243279.3(ACSF3):c.189C>T (p.His63=)
|
rs562260243
|
0.00001
|
|
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=)
|
rs1259149379
|
0.00001
|
|
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His)
|
rs750707295
|
0.00001
|
|
NM_001243279.3(ACSF3):c.267C>T (p.Val89=)
|
rs746883692
|
0.00001
|
|
NM_001243279.3(ACSF3):c.305del (p.Cys102fs)
|
rs760759040
|
0.00001
|
|
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=)
|
rs763021932
|
0.00001
|
|
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=)
|
rs182147718
|
0.00001
|
|
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val)
|
rs1441479986
|
0.00001
|
|
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=)
|
rs541662926
|
0.00001
|
|
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=)
|
rs905316715
|
0.00001
|
|
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)
|
rs1313088429
|
0.00001
|
|
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=)
|
rs775755554
|
0.00001
|
|
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe)
|
rs774006659
|
0.00001
|
|
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=)
|
rs1377484799
|
0.00001
|
|
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=)
|
rs775166866
|
0.00001
|
|
NM_001243279.3(ACSF3):c.555C>T (p.Val185=)
|
rs1260446910
|
0.00001
|
|
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=)
|
rs373441358
|
0.00001
|
|
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr)
|
rs761573352
|
0.00001
|
|
NM_001243279.3(ACSF3):c.648C>T (p.His216=)
|
rs377553361
|
0.00001
|
|
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=)
|
rs1374928980
|
0.00001
|
|
NM_001243279.3(ACSF3):c.666+1G>A
|
rs1336382616
|
0.00001
|
|
NM_001243279.3(ACSF3):c.666+20G>A
|
rs557738566
|
0.00001
|
|
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=)
|
rs1336029211
|
0.00001
|
|
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=)
|
rs766852572
|
0.00001
|
|
NM_001243279.3(ACSF3):c.738C>T (p.His246=)
|
rs112722289
|
0.00001
|
|
NM_001243279.3(ACSF3):c.741C>A (p.Val247=)
|
rs773357766
|
0.00001
|
|
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=)
|
rs764919377
|
0.00001
|
|
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser)
|
rs1975498120
|
0.00001
|
|
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=)
|
rs1321795303
|
0.00001
|
|
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)
|
rs749538361
|
0.00001
|
|
NM_001243279.3(ACSF3):c.823-5C>T
|
rs192714121
|
0.00001
|
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
|
NM_001243279.3(ACSF3):c.866del (p.Val289fs)
|
rs758740850
|
0.00001
|
|
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=)
|
rs942841837
|
0.00001
|
|
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=)
|
rs1165098721
|
0.00001
|
|
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys)
|
rs765777645
|
0.00001
|
|
NM_001258392.3(CLPB):c.1067-4C>A
|
rs1311832888
|
0.00001
|
|
NM_001258392.3(CLPB):c.1123-14T>C
|
rs761493633
|
0.00001
|
|
NM_001258392.3(CLPB):c.1123-3C>T
|
rs764474532
|
0.00001
|
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
|
NM_001258392.3(CLPB):c.1167+6T>C
|
rs748976093
|
0.00001
|
|
NM_001258392.3(CLPB):c.1197C>T (p.Gly399=)
|
rs1363666590
|
0.00001
|
|
NM_001258392.3(CLPB):c.1200C>T (p.Tyr400=)
|
rs536717344
|
0.00001
|
|
NM_001258392.3(CLPB):c.1228A>G (p.Thr410Ala)
|
rs1258428897
|
0.00001
|
|
NM_001258392.3(CLPB):c.130G>A (p.Glu44Lys)
|
rs536485763
|
0.00001
|
|
NM_001258392.3(CLPB):c.1312C>T (p.Leu438=)
|
rs539751194
|
0.00001
|
|
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr)
|
rs770073084
|
0.00001
|
|
NM_001258392.3(CLPB):c.1374C>T (p.Asp458=)
|
rs776452795
|
0.00001
|
|
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
|
rs372344202
|
0.00001
|
|
NM_001258392.3(CLPB):c.1392C>G (p.Thr464=)
|
rs1315933008
|
0.00001
|
|
NM_001258392.3(CLPB):c.1407C>T (p.Ser469=)
|
rs747632383
|
0.00001
|
|
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
|
rs778269139
|
0.00001
|
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
|
NM_001258392.3(CLPB):c.1428G>A (p.Ala476=)
|
rs750997439
|
0.00001
|
|
NM_001258392.3(CLPB):c.1461C>T (p.Ser487=)
|
rs752870447
|
0.00001
|
|
NM_001258392.3(CLPB):c.1468C>T (p.Arg490Cys)
|
rs773040549
|
0.00001
|
|
NM_001258392.3(CLPB):c.1469G>A (p.Arg490His)
|
rs568455218
|
0.00001
|
|
NM_001258392.3(CLPB):c.1477G>A (p.Glu493Lys)
|
rs376835047
|
0.00001
|
|
NM_001258392.3(CLPB):c.1489G>T (p.Asp497Tyr)
|
rs918777173
|
0.00001
|
|
NM_001258392.3(CLPB):c.1503T>G (p.Ser501Arg)
|
rs571871217
|
0.00001
|
|
NM_001258392.3(CLPB):c.1542G>A (p.Val514=)
|
rs935570035
|
0.00001
|
|
NM_001258392.3(CLPB):c.1581G>A (p.Glu527=)
|
rs752634197
|
0.00001
|
|
NM_001258392.3(CLPB):c.1606G>A (p.Val536Ile)
|
rs776356646
|
0.00001
|
|
NM_001258392.3(CLPB):c.1620C>T (p.Pro540=)
|
rs200970392
|
0.00001
|
|
NM_001258392.3(CLPB):c.1631C>T (p.Ser544Leu)
|
rs1430716011
|
0.00001
|
|
NM_001258392.3(CLPB):c.1672G>A (p.Ala558Thr)
|
rs780169796
|
0.00001
|
|
NM_001258392.3(CLPB):c.1681-14C>T
|
rs746122828
|
0.00001
|
|
NM_001258392.3(CLPB):c.1717C>T (p.Arg573Cys)
|
rs186989806
|
0.00001
|
|
NM_001258392.3(CLPB):c.1740C>T (p.Val580=)
|
rs759628306
|
0.00001
|
|
NM_001258392.3(CLPB):c.1741G>A (p.Asp581Asn)
|
rs776835116
|
0.00001
|
|
NM_001258392.3(CLPB):c.1744G>A (p.Gly582Ser)
|
rs747198658
|
0.00001
|
|
NM_001258392.3(CLPB):c.1765G>A (p.Ala589Thr)
|
rs1949500581
|
0.00001
|
|
NM_001258392.3(CLPB):c.1777A>C (p.Lys593Gln)
|
rs779976853
|
0.00001
|
|
NM_001258392.3(CLPB):c.1780C>T (p.His594Tyr)
|
rs1442380307
|
0.00001
|
|
NM_001258392.3(CLPB):c.1785+7A>G
|
rs745442561
|
0.00001
|
|
NM_001258392.3(CLPB):c.1785+8C>T
|
rs1446394124
|
0.00001
|
|
NM_001258392.3(CLPB):c.1786-5G>A
|
rs756715990
|
0.00001
|
|
NM_001258392.3(CLPB):c.1844G>T (p.Gly615Val)
|
rs1247332355
|
0.00001
|
|
NM_001258392.3(CLPB):c.1937C>G (p.Pro646Arg)
|
rs201668123
|
0.00001
|
|
NM_001258392.3(CLPB):c.1968C>T (p.Asp656=)
|
rs757217501
|
0.00001
|
|
NM_001258392.3(CLPB):c.1969A>T (p.Ser657Cys)
|
rs1254521420
|
0.00001
|
|
NM_001258392.3(CLPB):c.1995G>T (p.Arg665=)
|
rs894319387
|
0.00001
|
|
NM_001258392.3(CLPB):c.229C>A (p.Arg77Ser)
|
rs567785578
|
0.00001
|
|
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
|
rs1590947700
|
0.00001
|
|
NM_001258392.3(CLPB):c.254C>T (p.Ala85Val)
|
rs751423546
|
0.00001
|
|
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
|
rs960976552
|
0.00001
|
|
NM_001258392.3(CLPB):c.261T>C (p.Thr87=)
|
rs1427118335
|
0.00001
|
|
NM_001258392.3(CLPB):c.269G>A (p.Arg90His)
|
rs762324677
|
0.00001
|
|
NM_001258392.3(CLPB):c.2T>C (p.Met1Thr)
|
rs369149141
|
0.00001
|
|
NM_001258392.3(CLPB):c.312G>C (p.Trp104Cys)
|
rs747589481
|
0.00001
|
|
NM_001258392.3(CLPB):c.356C>G (p.Ala119Gly)
|
rs1191592329
|
0.00001
|
|
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly)
|
rs1565107812
|
0.00001
|
|
NM_001258392.3(CLPB):c.367G>C (p.Val123Leu)
|
rs141495575
|
0.00001
|
|
NM_001258392.3(CLPB):c.38C>T (p.Ala13Val)
|
rs750927442
|
0.00001
|
|
NM_001258392.3(CLPB):c.39G>A (p.Ala13=)
|
rs572605602
|
0.00001
|
|
NM_001258392.3(CLPB):c.409G>T (p.Ala137Ser)
|
rs1323542690
|
0.00001
|
|
NM_001258392.3(CLPB):c.456-3T>A
|
rs751918724
|
0.00001
|
|
NM_001258392.3(CLPB):c.531C>T (p.Asn177=)
|
rs771786059
|
0.00001
|
|
NM_001258392.3(CLPB):c.532C>T (p.Arg178Ter)
|
rs774185980
|
0.00001
|
|
NM_001258392.3(CLPB):c.57G>C (p.Arg19=)
|
rs112362953
|
0.00001
|
|
NM_001258392.3(CLPB):c.58C>T (p.Leu20=)
|
rs150558227
|
0.00001
|
|
NM_001258392.3(CLPB):c.638C>G (p.Ser213Cys)
|
rs767714428
|
0.00001
|
|
NM_001258392.3(CLPB):c.646+13T>C
|
rs370275901
|
0.00001
|
|
NM_001258392.3(CLPB):c.647-6C>T
|
rs1377454533
|
0.00001
|
|
NM_001258392.3(CLPB):c.751A>G (p.Thr251Ala)
|
rs754211386
|
0.00001
|
|
NM_001258392.3(CLPB):c.757A>G (p.Lys253Glu)
|
rs766759416
|
0.00001
|
|
NM_001258392.3(CLPB):c.758A>G (p.Lys253Arg)
|
rs761122843
|
0.00001
|
|
NM_001258392.3(CLPB):c.771T>C (p.Asp257=)
|
rs143460015
|
0.00001
|
|
NM_001258392.3(CLPB):c.775+13G>A
|
rs746972083
|
0.00001
|
|
NM_001258392.3(CLPB):c.776G>A (p.Gly259Glu)
|
rs543347319
|
0.00001
|
|
NM_001258392.3(CLPB):c.817T>C (p.Leu273=)
|
rs1950189871
|
0.00001
|
|
NM_001258392.3(CLPB):c.849G>A (p.Lys283=)
|
rs759743960
|
0.00001
|
|
NM_001258392.3(CLPB):c.873+12G>A
|
rs199805574
|
0.00001
|
|
NM_001258392.3(CLPB):c.910C>T (p.Arg304Trp)
|
rs747344641
|
0.00001
|
|
NM_001258392.3(CLPB):c.916C>T (p.Arg306Cys)
|
rs1199370784
|
0.00001
|
|
NM_001258392.3(CLPB):c.935G>A (p.Arg312Gln)
|
rs751427024
|
0.00001
|
|
NM_001258392.3(CLPB):c.967G>A (p.Ala323Thr)
|
rs759050719
|
0.00001
|
|
NM_001271.4(CHD2):c.1052+14C>G
|
rs146319346
|
0.00001
|
|
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu)
|
rs1064794584
|
0.00001
|
|
NM_001271.4(CHD2):c.1104G>A (p.Glu368=)
|
rs757569320
|
0.00001
|
|
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
|
rs1249403093
|
0.00001
|
|
NM_001271.4(CHD2):c.1154-6G>A
|
rs1275001828
|
0.00001
|
|
NM_001271.4(CHD2):c.1188A>G (p.Thr396=)
|
rs199553245
|
0.00001
|
|
NM_001271.4(CHD2):c.1199-9A>G
|
rs1210573353
|
0.00001
|
|
NM_001271.4(CHD2):c.11A>G (p.Asn4Ser)
|
rs2052524504
|
0.00001
|
|
NM_001271.4(CHD2):c.1207C>T (p.Arg403Trp)
|
rs1438580585
|
0.00001
|
|
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu)
|
rs372219984
|
0.00001
|
|
NM_001271.4(CHD2):c.1225A>G (p.Asn409Asp)
|
rs531251618
|
0.00001
|
|
NM_001271.4(CHD2):c.1248A>G (p.Lys416=)
|
rs1034535662
|
0.00001
|
|
NM_001271.4(CHD2):c.12T>G (p.Asn4Lys)
|
rs750955957
|
0.00001
|
|
NM_001271.4(CHD2):c.1317T>C (p.Asn439=)
|
rs753188917
|
0.00001
|
|
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe)
|
rs763586960
|
0.00001
|
|
NM_001271.4(CHD2):c.1335C>T (p.His445=)
|
rs140008471
|
0.00001
|
|
NM_001271.4(CHD2):c.1357A>T (p.Ile453Phe)
|
rs144393676
|
0.00001
|
|
NM_001271.4(CHD2):c.1378-18T>C
|
rs748100193
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-5T>C
|
rs1008040869
|
0.00001
|
|
NM_001271.4(CHD2):c.1503-6C>T
|
rs768998067
|
0.00001
|
|
NM_001271.4(CHD2):c.1572C>T (p.Ser524=)
|
rs1019484868
|
0.00001
|
|
NM_001271.4(CHD2):c.1578G>A (p.Leu526=)
|
rs763466775
|
0.00001
|
|
NM_001271.4(CHD2):c.1582C>G (p.His528Asp)
|
rs776364124
|
0.00001
|
|
NM_001271.4(CHD2):c.159G>A (p.Ser53=)
|
rs552271683
|
0.00001
|
|
NM_001271.4(CHD2):c.1668A>G (p.Ala556=)
|
rs1060504937
|
0.00001
|
|
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val)
|
rs1060503518
|
0.00001
|
|
NM_001271.4(CHD2):c.1718C>T (p.Thr573Met)
|
rs780171086
|
0.00001
|
|
NM_001271.4(CHD2):c.174A>G (p.Glu58=)
|
rs1168929886
|
0.00001
|
|
NM_001271.4(CHD2):c.1764G>A (p.Lys588=)
|
rs139263117
|
0.00001
|
|
NM_001271.4(CHD2):c.1770C>T (p.Asn590=)
|
rs149947056
|
0.00001
|
|
NM_001271.4(CHD2):c.1810-11T>C
|
rs759545889
|
0.00001
|
|
NM_001271.4(CHD2):c.189G>T (p.Gln63His)
|
rs568998233
|
0.00001
|
|
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr)
|
rs757715547
|
0.00001
|
|
NM_001271.4(CHD2):c.1914C>T (p.Ser638=)
|
rs1304257967
|
0.00001
|
|
NM_001271.4(CHD2):c.1968C>T (p.Leu656=)
|
rs1159091696
|
0.00001
|
|
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu)
|
rs773901289
|
0.00001
|
|
NM_001271.4(CHD2):c.1995G>A (p.Pro665=)
|
rs747900073
|
0.00001
|
|
NM_001271.4(CHD2):c.2037G>A (p.Gly679=)
|
rs1441816340
|
0.00001
|
|
NM_001271.4(CHD2):c.2098A>C (p.Arg700=)
|
rs776453537
|
0.00001
|
|
NM_001271.4(CHD2):c.219C>G (p.Ser73=)
|
rs140718403
|
0.00001
|
|
NM_001271.4(CHD2):c.2230A>G (p.Thr744Ala)
|
rs1596418984
|
0.00001
|
|
NM_001271.4(CHD2):c.2231C>T (p.Thr744Ile)
|
rs1359060187
|
0.00001
|
|
NM_001271.4(CHD2):c.2350C>T (p.Leu784=)
|
rs2053846480
|
0.00001
|
|
NM_001271.4(CHD2):c.2352+4G>C
|
rs1173333743
|
0.00001
|
|
NM_001271.4(CHD2):c.249A>G (p.Lys83=)
|
rs990673547
|
0.00001
|
|
NM_001271.4(CHD2):c.24C>T (p.Ser8=)
|
rs1251726951
|
0.00001
|
|
NM_001271.4(CHD2):c.2505+19T>C
|
rs1057521420
|
0.00001
|
|
NM_001271.4(CHD2):c.2506-13T>C
|
rs751543942
|
0.00001
|
|
NM_001271.4(CHD2):c.2506C>T (p.Arg836Cys)
|
rs1567148426
|
0.00001
|
|
NM_001271.4(CHD2):c.2553C>T (p.Asp851=)
|
rs2053887874
|
0.00001
|
|
NM_001271.4(CHD2):c.2568T>A (p.Asp856Glu)
|
rs770126779
|
0.00001
|
|
NM_001271.4(CHD2):c.2577+12A>C
|
rs769088995
|
0.00001
|
|
NM_001271.4(CHD2):c.2634A>G (p.Ser878=)
|
rs914239234
|
0.00001
|
|
NM_001271.4(CHD2):c.2745A>G (p.Leu915=)
|
rs1567150238
|
0.00001
|
|
NM_001271.4(CHD2):c.2751A>T (p.Thr917=)
|
rs1233513499
|
0.00001
|
|
NM_001271.4(CHD2):c.2802A>G (p.Val934=)
|
rs544488824
|
0.00001
|
|
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
|
rs1158357314
|
0.00001
|
|
NM_001271.4(CHD2):c.2846C>T (p.Thr949Met)
|
rs1064794542
|
0.00001
|
|
NM_001271.4(CHD2):c.2865A>G (p.Ser955=)
|
rs769531663
|
0.00001
|
|
NM_001271.4(CHD2):c.2901G>A (p.Glu967=)
|
rs755608958
|
0.00001
|
|
NM_001271.4(CHD2):c.2907A>G (p.Thr969=)
|
rs2053970223
|
0.00001
|
|
NM_001271.4(CHD2):c.295-17G>A
|
rs757490818
|
0.00001
|
|
NM_001271.4(CHD2):c.295-18G>C
|
rs747188522
|
0.00001
|
|
NM_001271.4(CHD2):c.3006T>C (p.Ala1002=)
|
rs186862897
|
0.00001
|
|
NM_001271.4(CHD2):c.3066+8G>A
|
rs376968734
|
0.00001
|
|
NM_001271.4(CHD2):c.3067-16G>A
|
rs768858302
|
0.00001
|
|
NM_001271.4(CHD2):c.3067-6T>C
|
rs901346678
|
0.00001
|
|
NM_001271.4(CHD2):c.30G>A (p.Glu10=)
|
rs754725429
|
0.00001
|
|
NM_001271.4(CHD2):c.3177G>A (p.Glu1059=)
|
rs764787401
|
0.00001
|
|
NM_001271.4(CHD2):c.3180G>A (p.Arg1060=)
|
rs1005206801
|
0.00001
|
|
NM_001271.4(CHD2):c.3190C>T (p.Leu1064=)
|
rs752339272
|
0.00001
|
|
NM_001271.4(CHD2):c.3214C>A (p.Arg1072=)
|
rs767106034
|
0.00001
|
|
NM_001271.4(CHD2):c.3238-13C>T
|
rs368489730
|
0.00001
|
|
NM_001271.4(CHD2):c.3238-3C>T
|
rs1596437905
|
0.00001
|
|
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
|
rs200013427
|
0.00001
|
|
NM_001271.4(CHD2):c.3354G>C (p.Gly1118=)
|
rs747316316
|
0.00001
|
|
NM_001271.4(CHD2):c.3355C>T (p.Arg1119Cys)
|
rs370737593
|
0.00001
|
|
NM_001271.4(CHD2):c.3359C>T (p.Pro1120Leu)
|
rs2054032013
|
0.00001
|
|
NM_001271.4(CHD2):c.3371G>A (p.Arg1124Gln)
|
rs746349198
|
0.00001
|
|
NM_001271.4(CHD2):c.3377A>G (p.Asp1126Gly)
|
rs1343182559
|
0.00001
|
|
NM_001271.4(CHD2):c.3386A>G (p.Glu1129Gly)
|
rs927604763
|
0.00001
|
|
NM_001271.4(CHD2):c.3399T>C (p.Asp1133=)
|
rs972263908
|
0.00001
|
|
NM_001271.4(CHD2):c.3402A>G (p.Ala1134=)
|
rs1596438065
|
0.00001
|
|
NM_001271.4(CHD2):c.3444C>T (p.Leu1148=)
|
rs949834349
|
0.00001
|
|
NM_001271.4(CHD2):c.3455+9A>C
|
rs199958087
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-16A>G
|
rs375354835
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-19C>T
|
rs780531827
|
0.00001
|
|
NM_001271.4(CHD2):c.3456-6C>T
|
rs755464665
|
0.00001
|
|
NM_001271.4(CHD2):c.3483G>A (p.Glu1161=)
|
rs747595052
|
0.00001
|
|
NM_001271.4(CHD2):c.3510G>A (p.Leu1170=)
|
rs746728408
|
0.00001
|
|
NM_001271.4(CHD2):c.3536A>G (p.Asn1179Ser)
|
rs561920953
|
0.00001
|
|
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly)
|
rs759269259
|
0.00001
|
|
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=)
|
rs1304626183
|
0.00001
|
|
NM_001271.4(CHD2):c.357A>G (p.Pro119=)
|
rs770307318
|
0.00001
|
|
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
|
rs561941628
|
0.00001
|
|
NM_001271.4(CHD2):c.3591C>T (p.Ser1197=)
|
rs753318183
|
0.00001
|
|
NM_001271.4(CHD2):c.3592G>A (p.Glu1198Lys)
|
rs757981280
|
0.00001
|
|
NM_001271.4(CHD2):c.3595+7G>A
|
rs527839842
|
0.00001
|
|
NM_001271.4(CHD2):c.3614G>A (p.Arg1205Lys)
|
rs559187972
|
0.00001
|
|
NM_001271.4(CHD2):c.3639C>T (p.Ser1213=)
|
rs373621677
|
0.00001
|
|
NM_001271.4(CHD2):c.3649G>C (p.Val1217Leu)
|
rs1465237014
|
0.00001
|
|
NM_001271.4(CHD2):c.3672A>G (p.Gln1224=)
|
rs768542034
|
0.00001
|
|
NM_001271.4(CHD2):c.3690G>A (p.Glu1230=)
|
rs113077918
|
0.00001
|
|
NM_001271.4(CHD2):c.3786G>A (p.Gly1262=)
|
rs1440327194
|
0.00001
|
|
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
|
rs1410226460
|
0.00001
|
|
NM_001271.4(CHD2):c.3828T>C (p.His1276=)
|
rs1171704093
|
0.00001
|
|
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=)
|
rs1356992069
|
0.00001
|
|
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu)
|
rs1273405855
|
0.00001
|
|
NM_001271.4(CHD2):c.3894G>A (p.Pro1298=)
|
rs754764864
|
0.00001
|
|
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=)
|
rs745873112
|
0.00001
|
|
NM_001271.4(CHD2):c.3952T>C (p.Leu1318=)
|
rs376550364
|
0.00001
|
|
NM_001271.4(CHD2):c.4008+8C>T
|
rs764966782
|
0.00001
|
|
NM_001271.4(CHD2):c.4009-13T>C
|
rs1161220634
|
0.00001
|
|
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
|
rs776072657
|
0.00001
|
|
NM_001271.4(CHD2):c.4072G>A (p.Glu1358Lys)
|
rs766747626
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+17C>T
|
rs761732184
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+18G>A
|
rs1246012548
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+5G>A
|
rs762703910
|
0.00001
|
|
NM_001271.4(CHD2):c.4137+9T>G
|
rs774237978
|
0.00001
|
|
NM_001271.4(CHD2):c.4149G>A (p.Leu1383=)
|
rs752784398
|
0.00001
|
|
NM_001271.4(CHD2):c.4193A>C (p.Lys1398Thr)
|
rs1239452633
|
0.00001
|
|
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
|
rs750869247
|
0.00001
|
|
NM_001271.4(CHD2):c.4225A>G (p.Lys1409Glu)
|
rs1334969628
|
0.00001
|
|
NM_001271.4(CHD2):c.4227A>G (p.Lys1409=)
|
rs917584577
|
0.00001
|
|
NM_001271.4(CHD2):c.4228G>T (p.Asp1410Tyr)
|
rs775901148
|
0.00001
|
|
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
|
rs1304514223
|
0.00001
|
|
NM_001271.4(CHD2):c.4278+15C>T
|
rs751745833
|
0.00001
|
|
NM_001271.4(CHD2):c.4278+8T>C
|
rs1340343354
|
0.00001
|
|
NM_001271.4(CHD2):c.4279-4A>G
|
rs774362000
|
0.00001
|
|
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
|
rs374157769
|
0.00001
|
|
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
|
rs1006566437
|
0.00001
|
|
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala)
|
rs1184559933
|
0.00001
|
|
NM_001271.4(CHD2):c.4481A>G (p.Asn1494Ser)
|
rs913833972
|
0.00001
|
|
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=)
|
rs750989875
|
0.00001
|
|
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=)
|
rs557766333
|
0.00001
|
|
NM_001271.4(CHD2):c.4541C>T (p.Ala1514Val)
|
rs779865037
|
0.00001
|
|
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
|
rs1443730022
|
0.00001
|
|
NM_001271.4(CHD2):c.4592+7A>G
|
rs1384519631
|
0.00001
|
|
NM_001271.4(CHD2):c.4629T>C (p.Phe1543=)
|
rs1488895664
|
0.00001
|
|
NM_001271.4(CHD2):c.4678T>A (p.Ser1560Thr)
|
rs747637652
|
0.00001
|
|
NM_001271.4(CHD2):c.4692+7T>C
|
rs748728212
|
0.00001
|
|
NM_001271.4(CHD2):c.4713C>T (p.Asp1571=)
|
rs749592290
|
0.00001
|
|
NM_001271.4(CHD2):c.4714G>A (p.Val1572Met)
|
rs755267457
|
0.00001
|
|
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala)
|
rs746506782
|
0.00001
|
|
NM_001271.4(CHD2):c.4791C>T (p.Thr1597=)
|
rs560317096
|
0.00001
|
|
NM_001271.4(CHD2):c.4793C>T (p.Ser1598Leu)
|
rs1382300456
|
0.00001
|
|
NM_001271.4(CHD2):c.4811A>C (p.Gln1604Pro)
|
rs1355095407
|
0.00001
|
|
NM_001271.4(CHD2):c.4815G>A (p.Lys1605=)
|
rs2054437516
|
0.00001
|
|
NM_001271.4(CHD2):c.4826C>T (p.Pro1609Leu)
|
rs745396398
|
0.00001
|
|
NM_001271.4(CHD2):c.4864G>A (p.Asp1622Asn)
|
rs1044619239
|
0.00001
|
|
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
|
rs1018764419
|
0.00001
|
|
NM_001271.4(CHD2):c.4906+20T>C
|
rs753889013
|
0.00001
|
|
NM_001271.4(CHD2):c.4907-9T>G
|
rs747965948
|
0.00001
|
|
NM_001271.4(CHD2):c.4910G>A (p.Arg1637Gln)
|
rs752891322
|
0.00001
|
|
NM_001271.4(CHD2):c.4931G>A (p.Arg1644Lys)
|
rs997227724
|
0.00001
|
|
NM_001271.4(CHD2):c.4960A>C (p.Asn1654His)
|
rs1437890850
|
0.00001
|
|
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser)
|
rs1064795301
|
0.00001
|
|
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn)
|
rs748829883
|
0.00001
|
|
NM_001271.4(CHD2):c.4992G>A (p.Gln1664=)
|
rs1289862557
|
0.00001
|
|
NM_001271.4(CHD2):c.5008T>C (p.Tyr1670His)
|
rs775504391
|
0.00001
|
|
NM_001271.4(CHD2):c.5009A>G (p.Tyr1670Cys)
|
rs897082911
|
0.00001
|
|
NM_001271.4(CHD2):c.5019C>T (p.His1673=)
|
rs767814807
|
0.00001
|
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
|
NM_001271.4(CHD2):c.5051A>T (p.His1684Leu)
|
rs770784804
|
0.00001
|
|
NM_001271.4(CHD2):c.5058C>T (p.Ser1686=)
|
rs199851404
|
0.00001
|
|
NM_001271.4(CHD2):c.5059G>A (p.Gly1687Arg)
|
rs149696735
|
0.00001
|
|
NM_001271.4(CHD2):c.5076C>T (p.Asn1692=)
|
rs901529415
|
0.00001
|
|
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
|
rs757945055
|
0.00001
|
|
NM_001271.4(CHD2):c.5100T>C (p.Tyr1700=)
|
rs751251777
|
0.00001
|
|
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=)
|
rs781108294
|
0.00001
|
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
|
NM_001271.4(CHD2):c.5121A>G (p.Arg1707=)
|
rs1429253236
|
0.00001
|
|
NM_001271.4(CHD2):c.5124C>T (p.Asp1708=)
|
rs768703416
|
0.00001
|
|
NM_001271.4(CHD2):c.5129G>A (p.Arg1710Gln)
|
rs762575438
|
0.00001
|
|
NM_001271.4(CHD2):c.5134C>T (p.His1712Tyr)
|
rs1006465697
|
0.00001
|
|
NM_001271.4(CHD2):c.5148T>C (p.Tyr1716=)
|
rs773497328
|
0.00001
|
|
NM_001271.4(CHD2):c.5153G>A (p.Arg1718Lys)
|
rs2054517021
|
0.00001
|
|
NM_001271.4(CHD2):c.5154-3C>A
|
rs924030126
|
0.00001
|
|
NM_001271.4(CHD2):c.5184C>T (p.Ser1728=)
|
rs781575273
|
0.00001
|
|
NM_001271.4(CHD2):c.5197C>G (p.Pro1733Ala)
|
rs1461476360
|
0.00001
|
|
NM_001271.4(CHD2):c.5211C>G (p.His1737Gln)
|
rs1350393242
|
0.00001
|
|
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
|
rs767099765
|
0.00001
|
|
NM_001271.4(CHD2):c.5258A>G (p.Tyr1753Cys)
|
rs765267794
|
0.00001
|
|
NM_001271.4(CHD2):c.525A>G (p.Val175=)
|
rs369466744
|
0.00001
|
|
NM_001271.4(CHD2):c.5267A>T (p.Gln1756Leu)
|
rs1045351387
|
0.00001
|
|
NM_001271.4(CHD2):c.5287C>T (p.Arg1763Cys)
|
rs1486760399
|
0.00001
|
|
NM_001271.4(CHD2):c.5310G>A (p.Leu1770=)
|
rs1450537733
|
0.00001
|
|
NM_001271.4(CHD2):c.5328T>G (p.Pro1776=)
|
rs1243275651
|
0.00001
|
|
NM_001271.4(CHD2):c.5335C>G (p.Pro1779Ala)
|
rs374271060
|
0.00001
|
|
NM_001271.4(CHD2):c.5348C>T (p.Ala1783Val)
|
rs1485233200
|
0.00001
|
|
NM_001271.4(CHD2):c.5362C>T (p.Arg1788Cys)
|
rs759259416
|
0.00001
|
|
NM_001271.4(CHD2):c.53A>G (p.Asn18Ser)
|
rs1034044226
|
0.00001
|
|
NM_001271.4(CHD2):c.5414A>G (p.His1805Arg)
|
rs1287619700
|
0.00001
|
|
NM_001271.4(CHD2):c.5437C>T (p.Leu1813=)
|
rs1160530295
|
0.00001
|
|
NM_001271.4(CHD2):c.543C>A (p.Val181=)
|
rs987898061
|
0.00001
|
|
NM_001271.4(CHD2):c.5476C>T (p.Arg1826Trp)
|
rs759398974
|
0.00001
|
|
NM_001271.4(CHD2):c.5478G>A (p.Arg1826=)
|
rs769748892
|
0.00001
|
|
NM_001271.4(CHD2):c.547A>G (p.Arg183Gly)
|
rs1264879568
|
0.00001
|
|
NM_001271.4(CHD2):c.551+16A>G
|
rs1298978258
|
0.00001
|
|
NM_001271.4(CHD2):c.552-7A>G
|
rs374413766
|
0.00001
|
|
NM_001271.4(CHD2):c.557T>C (p.Val186Ala)
|
rs760795656
|
0.00001
|
|
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu)
|
rs377701152
|
0.00001
|
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
|
NM_001271.4(CHD2):c.599G>A (p.Gly200Glu)
|
rs368498690
|
0.00001
|
|
NM_001271.4(CHD2):c.601A>G (p.Lys201Glu)
|
rs750067899
|
0.00001
|
|
NM_001271.4(CHD2):c.602A>T (p.Lys201Met)
|
rs1369732003
|
0.00001
|
|
NM_001271.4(CHD2):c.623C>T (p.Ser208Phe)
|
rs2053325261
|
0.00001
|
|
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp)
|
rs749147803
|
0.00001
|
|
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu)
|
rs768365369
|
0.00001
|
|
NM_001271.4(CHD2):c.660G>A (p.Arg220=)
|
rs1466513798
|
0.00001
|
|
NM_001271.4(CHD2):c.663G>C (p.Gln221His)
|
rs776917899
|
0.00001
|
|
NM_001271.4(CHD2):c.668G>A (p.Arg223His)
|
rs1041959719
|
0.00001
|
|
NM_001271.4(CHD2):c.677C>T (p.Ala226Val)
|
rs1379301229
|
0.00001
|
|
NM_001271.4(CHD2):c.687C>T (p.Asn229=)
|
rs752009455
|
0.00001
|
|
NM_001271.4(CHD2):c.688G>T (p.Val230Phe)
|
rs762370978
|
0.00001
|
|
NM_001271.4(CHD2):c.758T>C (p.Val253Ala)
|
rs773621487
|
0.00001
|
|
NM_001271.4(CHD2):c.798C>G (p.Val266=)
|
rs1302498638
|
0.00001
|
|
NM_001271.4(CHD2):c.825A>T (p.Gly275=)
|
rs372257500
|
0.00001
|
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
|
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr)
|
rs1313540517
|
0.00001
|
|
NM_001271.4(CHD2):c.849A>G (p.Val283=)
|
rs1476764301
|
0.00001
|
|
NM_001271.4(CHD2):c.857T>C (p.Ile286Thr)
|
rs530919126
|
0.00001
|
|
NM_001271.4(CHD2):c.870C>T (p.Gly290=)
|
rs748380979
|
0.00001
|
|
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn)
|
rs201819533
|
0.00001
|
|
NM_001271.4(CHD2):c.878G>C (p.Ser293Thr)
|
rs1555439526
|
0.00001
|
|
NM_001271.4(CHD2):c.890A>T (p.Asp297Val)
|
rs527697910
|
0.00001
|
|
NM_001271.4(CHD2):c.918G>A (p.Gln306=)
|
rs373093638
|
0.00001
|
|
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
|
rs377012056
|
0.00001
|
|
NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp)
|
rs1295586318
|
0.00001
|
|
NM_001278293.3(ARL6):c.186-11T>G
|
rs370656150
|
0.00001
|
|
NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile)
|
rs150667690
|
0.00001
|
|
NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)
|
rs749599192
|
0.00001
|
|
NM_001278293.3(ARL6):c.254+8C>T
|
rs772021931
|
0.00001
|
|
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr)
|
rs137854907
|
0.00001
|
|
NM_001278293.3(ARL6):c.307G>T (p.Val103Phe)
|
rs774150149
|
0.00001
|
|
NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg)
|
rs2037383699
|
0.00001
|
|
NM_001278293.3(ARL6):c.344A>G (p.His115Arg)
|
rs1238121913
|
0.00001
|
|
NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys)
|
rs202044896
|
0.00001
|
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
|
NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)
|
rs104893678
|
0.00001
|
|
NM_001278293.3(ARL6):c.418T>C (p.Ser140Pro)
|
rs1463393274
|
0.00001
|
|
NM_001278293.3(ARL6):c.430T>C (p.Ser144Pro)
|
rs1418049586
|
0.00001
|
|
NM_001278293.3(ARL6):c.432T>A (p.Ser144=)
|
rs1324293417
|
0.00001
|
|
NM_001278293.3(ARL6):c.471G>C (p.Trp157Cys)
|
rs1559687672
|
0.00001
|
|
NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)
|
rs104893679
|
0.00001
|
|
NM_001278293.3(ARL6):c.519T>C (p.Gly173=)
|
rs200888923
|
0.00001
|
|
NM_001278293.3(ARL6):c.538C>T (p.Gln180Ter)
|
rs201105839
|
0.00001
|
|
NM_001278293.3(ARL6):c.550G>T (p.Val184Leu)
|
rs1389543975
|
0.00001
|
|
NM_001278293.3(ARL6):c.63G>A (p.Leu21=)
|
rs369665795
|
0.00001
|
|
NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)
|
rs104893680
|
0.00001
|
|
NM_001278293.3(ARL6):c.96G>A (p.Thr32=)
|
rs771538955
|
0.00001
|
|
NM_001278293.3(ARL6):c.99C>T (p.Ile33=)
|
rs772756275
|
0.00001
|
|
NM_001352514.2(HLCS):c.1083T>C (p.Cys361=)
|
rs568871363
|
0.00001
|
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
|
NM_001352514.2(HLCS):c.1096dup (p.Ile366fs)
|
rs773102942
|
0.00001
|
|
NM_001352514.2(HLCS):c.1101T>C (p.Ala367=)
|
rs773020648
|
0.00001
|
|
NM_001352514.2(HLCS):c.1164G>A (p.Gly388=)
|
rs765979436
|
0.00001
|
|
NM_001352514.2(HLCS):c.1179G>A (p.Leu393=)
|
rs1395979008
|
0.00001
|
|
NM_001352514.2(HLCS):c.1188C>T (p.Ser396=)
|
rs1188065092
|
0.00001
|
|
NM_001352514.2(HLCS):c.1227A>C (p.Ala409=)
|
rs776771975
|
0.00001
|
|
NM_001352514.2(HLCS):c.1242C>G (p.Val414=)
|
rs772203778
|
0.00001
|
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
|
NM_001352514.2(HLCS):c.1371G>A (p.Glu457=)
|
rs760694310
|
0.00001
|
|
NM_001352514.2(HLCS):c.1395T>C (p.His465=)
|
rs2066885260
|
0.00001
|
|
NM_001352514.2(HLCS):c.1413C>T (p.Arg471=)
|
rs533602689
|
0.00001
|
|
NM_001352514.2(HLCS):c.1425T>C (p.Ala475=)
|
rs1034237557
|
0.00001
|
|
NM_001352514.2(HLCS):c.1437+7A>G
|
rs1240794985
|
0.00001
|
|
NM_001352514.2(HLCS):c.1524C>T (p.Tyr508=)
|
rs772808561
|
0.00001
|
|
NM_001352514.2(HLCS):c.1596T>G (p.Pro532=)
|
rs201862206
|
0.00001
|
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
|
NM_001352514.2(HLCS):c.1863G>A (p.Val621=)
|
rs762642801
|
0.00001
|
|
NM_001352514.2(HLCS):c.1893-9C>G
|
rs761781683
|
0.00001
|
|
NM_001352514.2(HLCS):c.1908A>T (p.Thr636=)
|
rs1369860703
|
0.00001
|
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
|
NM_001352514.2(HLCS):c.2034A>G (p.Arg678=)
|
rs945618984
|
0.00001
|
|
NM_001352514.2(HLCS):c.2058G>A (p.Pro686=)
|
rs556886743
|
0.00001
|
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
|
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)
|
rs119103230
|
0.00001
|
|
NM_001352514.2(HLCS):c.2208C>T (p.Leu736=)
|
rs764487201
|
0.00001
|
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
|
NM_001352514.2(HLCS):c.2346T>C (p.Tyr782=)
|
rs367725468
|
0.00001
|
|
NM_001352514.2(HLCS):c.2361_2362insT (p.Val788fs)
|
rs760372711
|
0.00001
|
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
|
NM_001352514.2(HLCS):c.2418C>G (p.Val806=)
|
rs759416272
|
0.00001
|
|
NM_001352514.2(HLCS):c.2463C>A (p.Val821=)
|
rs779439814
|
0.00001
|
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
|
NM_001352514.2(HLCS):c.2505C>A (p.Gly835=)
|
rs199936080
|
0.00001
|
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
|
NM_001352514.2(HLCS):c.2571C>T (p.Asp857=)
|
rs202028605
|
0.00001
|
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
|
NM_001352514.2(HLCS):c.2601C>A (p.Leu867=)
|
rs372467001
|
0.00001
|
|
NM_001352514.2(HLCS):c.456C>A (p.Leu152=)
|
rs778232930
|
0.00001
|
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
|
NM_001352514.2(HLCS):c.498G>A (p.Val166=)
|
rs2066944593
|
0.00001
|
|
NM_001352514.2(HLCS):c.513C>T (p.Ser171=)
|
rs755797089
|
0.00001
|
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
|
NM_001352514.2(HLCS):c.540C>T (p.Val180=)
|
rs574644351
|
0.00001
|
|
NM_001352514.2(HLCS):c.570G>A (p.Pro190=)
|
rs780666266
|
0.00001
|
|
NM_001352514.2(HLCS):c.585T>C (p.Ser195=)
|
rs1379810424
|
0.00001
|
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
|
NM_001352514.2(HLCS):c.621T>C (p.His207=)
|
rs1323740370
|
0.00001
|
|
NM_001352514.2(HLCS):c.681C>T (p.Ala227=)
|
rs768745299
|
0.00001
|
|
NM_001352514.2(HLCS):c.696T>C (p.Pro232=)
|
rs200877859
|
0.00001
|
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
|
NM_001352514.2(HLCS):c.744C>G (p.Leu248=)
|
rs764416032
|
0.00001
|
|
NM_001352514.2(HLCS):c.762C>T (p.His254=)
|
rs775946159
|
0.00001
|
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
|
NM_001352514.2(HLCS):c.810G>A (p.Ala270=)
|
rs747702795
|
0.00001
|
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
|
NM_001352514.2(HLCS):c.861G>A (p.Glu287=)
|
rs1410993144
|
0.00001
|
|
NM_001352514.2(HLCS):c.969C>T (p.Leu323=)
|
rs1458636068
|
0.00001
|
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
|
NM_001352514.2(HLCS):c.981C>T (p.His327=)
|
rs773664058
|
0.00001
|
|
NM_001352514.2(HLCS):c.996G>A (p.Val332=)
|
rs745472061
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
|
NM_001370658.1(BTD):c.-17+7A>C
|
rs1453269936
|
0.00001
|
|
NM_001370658.1(BTD):c.-22G>A
|
rs781354864
|
0.00001
|
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
|
NM_001370658.1(BTD):c.1092C>T (p.Thr364=)
|
rs753278397
|
0.00001
|
|
NM_001370658.1(BTD):c.1101C>T (p.Asn367=)
|
rs756863026
|
0.00001
|
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
0.00001
|
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
|
NM_001370658.1(BTD):c.1161T>C (p.Pro387=)
|
rs749528636
|
0.00001
|
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
|
NM_001370658.1(BTD):c.1200T>C (p.Asn400=)
|
rs2065658628
|
0.00001
|
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
|
NM_001370658.1(BTD):c.1236C>A (p.Thr412=)
|
rs1575030932
|
0.00001
|
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
|
NM_001370658.1(BTD):c.1377G>A (p.Thr459=)
|
rs535292517
|
0.00001
|
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
|
NM_001370658.1(BTD):c.1446A>G (p.Ser482=)
|
rs1323842252
|
0.00001
|
|
NM_001370658.1(BTD):c.1470C>T (p.Asp490=)
|
rs1301007653
|
0.00001
|
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
|
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys)
|
rs397514431
|
0.00001
|
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
|
NM_001370658.1(BTD):c.249+15C>T
|
rs760435212
|
0.00001
|
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
|
NM_001370658.1(BTD):c.255A>C (p.Val85=)
|
rs369304137
|
0.00001
|
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
|
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe)
|
rs190386869
|
0.00001
|
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
|
NM_001370658.1(BTD):c.600A>G (p.Ala200=)
|
rs757071809
|
0.00001
|
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
|
NM_001370658.1(BTD):c.669C>T (p.Phe223=)
|
rs774761127
|
0.00001
|
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
|
NM_001370658.1(BTD):c.729G>A (p.Val243=)
|
rs777470168
|
0.00001
|
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
|
NM_001370658.1(BTD):c.789G>A (p.Glu263=)
|
rs2065643507
|
0.00001
|
|
NM_001370658.1(BTD):c.843C>A (p.Val281=)
|
rs1344958210
|
0.00001
|
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
|
NM_001482.3(GATM):c.101G>A (p.Arg34Gln)
|
rs1889644849
|
0.00001
|
|
NM_001482.3(GATM):c.1037C>T (p.Pro346Leu)
|
rs142814307
|
0.00001
|
|
NM_001482.3(GATM):c.104C>A (p.Thr35Asn)
|
rs1331986925
|
0.00001
|
|
NM_001482.3(GATM):c.105T>C (p.Thr35=)
|
rs372089316
|
0.00001
|
|
NM_001482.3(GATM):c.1085T>C (p.Val362Ala)
|
rs1479969521
|
0.00001
|
|
NM_001482.3(GATM):c.1105C>T (p.Arg369Cys)
|
rs768118194
|
0.00001
|
|
NM_001482.3(GATM):c.1166C>T (p.Thr389Ile)
|
rs1450827920
|
0.00001
|
|
NM_001482.3(GATM):c.1170C>G (p.Thr390=)
|
rs368737044
|
0.00001
|
|
NM_001482.3(GATM):c.1186C>A (p.Arg396Ser)
|
rs1183535332
|
0.00001
|
|
NM_001482.3(GATM):c.1197T>C (p.Asn399=)
|
rs1225580016
|
0.00001
|
|
NM_001482.3(GATM):c.1230C>T (p.Cys410=)
|
rs767575428
|
0.00001
|
|
NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)
|
rs768171759
|
0.00001
|
|
NM_001482.3(GATM):c.1257G>A (p.Gln419=)
|
rs774881489
|
0.00001
|
|
NM_001482.3(GATM):c.138C>T (p.Ser46=)
|
rs1012951622
|
0.00001
|
|
NM_001482.3(GATM):c.153A>G (p.Ala51=)
|
rs1045318003
|
0.00001
|
|
NM_001482.3(GATM):c.210C>T (p.Asn70=)
|
rs776673535
|
0.00001
|
|
NM_001482.3(GATM):c.255C>T (p.Asn85=)
|
rs1057522666
|
0.00001
|
|
NM_001482.3(GATM):c.294C>T (p.Asn98=)
|
rs1271594468
|
0.00001
|
|
NM_001482.3(GATM):c.30G>T (p.Gly10=)
|
rs929095379
|
0.00001
|
|
NM_001482.3(GATM):c.334G>A (p.Gly112Arg)
|
rs1889504321
|
0.00001
|
|
NM_001482.3(GATM):c.366G>A (p.Lys122=)
|
rs1456477402
|
0.00001
|
|
NM_001482.3(GATM):c.484+7G>A
|
rs749748325
|
0.00001
|
|
NM_001482.3(GATM):c.48G>T (p.Ala16=)
|
rs587780951
|
0.00001
|
|
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)
|
rs397514708
|
0.00001
|
|
NM_001482.3(GATM):c.540C>T (p.Ile180=)
|
rs758473036
|
0.00001
|
|
NM_001482.3(GATM):c.565C>T (p.Arg189Cys)
|
rs377578020
|
0.00001
|
|
NM_001482.3(GATM):c.567C>T (p.Arg189=)
|
rs953018412
|
0.00001
|
|
NM_001482.3(GATM):c.581G>A (p.Arg194Gln)
|
rs774017569
|
0.00001
|
|
NM_001482.3(GATM):c.584C>T (p.Ala195Val)
|
rs752950030
|
0.00001
|
|
NM_001482.3(GATM):c.591G>A (p.Arg197=)
|
rs1167013064
|
0.00001
|
|
NM_001482.3(GATM):c.598A>G (p.Ile200Val)
|
rs1171642313
|
0.00001
|
|
NM_001482.3(GATM):c.603A>C (p.Lys201Asn)
|
rs748600834
|
0.00001
|
|
NM_001482.3(GATM):c.60C>G (p.Ile20Met)
|
rs1000621646
|
0.00001
|
|
NM_001482.3(GATM):c.616C>T (p.Arg206Cys)
|
rs769023072
|
0.00001
|
|
NM_001482.3(GATM):c.617G>A (p.Arg206His)
|
rs565509522
|
0.00001
|
|
NM_001482.3(GATM):c.621C>T (p.Gly207=)
|
rs780300589
|
0.00001
|
|
NM_001482.3(GATM):c.622G>A (p.Ala208Thr)
|
rs374059924
|
0.00001
|
|
NM_001482.3(GATM):c.625A>G (p.Lys209Glu)
|
rs1393968087
|
0.00001
|
|
NM_001482.3(GATM):c.638C>T (p.Ala213Val)
|
rs778893952
|
0.00001
|
|
NM_001482.3(GATM):c.675+9C>G
|
rs766041671
|
0.00001
|
|
NM_001482.3(GATM):c.676-14C>A
|
rs748127418
|
0.00001
|
|
NM_001482.3(GATM):c.67C>T (p.Arg23Trp)
|
rs1240389133
|
0.00001
|
|
NM_001482.3(GATM):c.710A>G (p.Lys237Arg)
|
rs764877849
|
0.00001
|
|
NM_001482.3(GATM):c.724G>C (p.Gly242Arg)
|
rs1236954285
|
0.00001
|
|
NM_001482.3(GATM):c.742G>A (p.Glu248Lys)
|
rs1388250183
|
0.00001
|
|
NM_001482.3(GATM):c.76C>G (p.Arg26Gly)
|
rs1032267288
|
0.00001
|
|
NM_001482.3(GATM):c.778C>T (p.Arg260Ter)
|
rs775933965
|
0.00001
|
|
NM_001482.3(GATM):c.7C>G (p.Arg3Gly)
|
rs796052538
|
0.00001
|
|
NM_001482.3(GATM):c.813+14G>A
|
rs1889448449
|
0.00001
|
|
NM_001482.3(GATM):c.814-3C>T
|
rs1262428448
|
0.00001
|
|
NM_001482.3(GATM):c.814-9T>C
|
rs774614737
|
0.00001
|
|
NM_001482.3(GATM):c.852T>C (p.His284=)
|
rs1057520287
|
0.00001
|
|
NM_001482.3(GATM):c.875A>G (p.His292Arg)
|
rs747005297
|
0.00001
|
|
NM_001482.3(GATM):c.88G>A (p.Gly30Arg)
|
rs1245821498
|
0.00001
|
|
NM_001482.3(GATM):c.967C>G (p.Pro323Ala)
|
rs777371743
|
0.00001
|
|
NM_001482.3(GATM):c.979-14T>C
|
rs775560293
|
0.00001
|
|
NM_001482.3(GATM):c.9G>A (p.Arg3=)
|
rs1471775361
|
0.00001
|
|
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
|
rs200548567
|
0.00001
|
|
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
|
rs748042148
|
0.00001
|
|
NM_001609.4(ACADSB):c.1154G>A (p.Cys385Tyr)
|
rs1370215763
|
0.00001
|
|
NM_001609.4(ACADSB):c.1156A>G (p.Ile386Val)
|
rs770827167
|
0.00001
|
|
NM_001609.4(ACADSB):c.1168G>A (p.Gly390Arg)
|
rs764095189
|
0.00001
|
|
NM_001609.4(ACADSB):c.1233G>A (p.Thr411=)
|
rs755167353
|
0.00001
|
|
NM_001609.4(ACADSB):c.1271T>C (p.Ile424Thr)
|
rs748926593
|
0.00001
|
|
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
|
rs1164586012
|
0.00001
|
|
NM_001609.4(ACADSB):c.219G>A (p.Gln73=)
|
rs756256851
|
0.00001
|
|
NM_001609.4(ACADSB):c.265A>G (p.Met89Val)
|
rs372537859
|
0.00001
|
|
NM_001609.4(ACADSB):c.295C>T (p.Gln99Ter)
|
rs760791287
|
0.00001
|
|
NM_001609.4(ACADSB):c.303+3A>G
|
rs1345480688
|
0.00001
|
|
NM_001609.4(ACADSB):c.426G>A (p.Gln142=)
|
rs748754507
|
0.00001
|
|
NM_001609.4(ACADSB):c.511-6A>G
|
rs773071242
|
0.00001
|
|
NM_001609.4(ACADSB):c.555A>G (p.Ser185=)
|
rs762414612
|
0.00001
|
|
NM_001609.4(ACADSB):c.655G>A (p.Val219Met)
|
rs553730391
|
0.00001
|
|
NM_001609.4(ACADSB):c.669A>G (p.Val223=)
|
rs750818948
|
0.00001
|
|
NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)
|
rs755158007
|
0.00001
|
|
NM_001609.4(ACADSB):c.681+14C>T
|
rs748185849
|
0.00001
|
|
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)
|
rs1266747835
|
0.00001
|
|
NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)
|
rs770456976
|
0.00001
|
|
NM_001698.3(AUH):c.1003C>T (p.Arg335Cys)
|
rs772918339
|
0.00001
|
|
NM_001698.3(AUH):c.222G>A (p.Glu74=)
|
rs1587943178
|
0.00001
|
|
NM_001698.3(AUH):c.25C>G (p.Pro9Ala)
|
rs1461159226
|
0.00001
|
|
NM_001698.3(AUH):c.305C>T (p.Ser102Leu)
|
rs368115216
|
0.00001
|
|
NM_001698.3(AUH):c.323T>C (p.Ile108Thr)
|
rs531669666
|
0.00001
|
|
NM_001698.3(AUH):c.331-8C>T
|
rs758271092
|
0.00001
|
|
NM_001698.3(AUH):c.476C>G (p.Ser159Cys)
|
rs1282582845
|
0.00001
|
|
NM_001698.3(AUH):c.547G>A (p.Ala183Thr)
|
rs548411527
|
0.00001
|
|
NM_001698.3(AUH):c.56G>T (p.Gly19Val)
|
rs1832891431
|
0.00001
|
|
NM_001698.3(AUH):c.655+3A>C
|
rs755914350
|
0.00001
|
|
NM_001698.3(AUH):c.656-2del
|
rs780964098
|
0.00001
|
|
NM_001698.3(AUH):c.769G>A (p.Val257Ile)
|
rs749920943
|
0.00001
|
|
NM_001698.3(AUH):c.797C>T (p.Ala266Val)
|
rs570875104
|
0.00001
|
|
NM_001698.3(AUH):c.798G>A (p.Ala266=)
|
rs760509061
|
0.00001
|
|
NM_001698.3(AUH):c.860G>C (p.Arg287Thr)
|
rs1826877739
|
0.00001
|
|
NM_001698.3(AUH):c.864G>A (p.Val288=)
|
rs199569104
|
0.00001
|
|
NM_001698.3(AUH):c.894+9C>A
|
rs1388023086
|
0.00001
|
|
NM_001698.3(AUH):c.898G>A (p.Asp300Asn)
|
rs746215620
|
0.00001
|
|
NM_001739.2(CA5A):c.110G>A (p.Arg37His)
|
rs775785856
|
0.00001
|
|
NM_001739.2(CA5A):c.235C>G (p.Gln79Glu)
|
rs773608071
|
0.00001
|
|
NM_001739.2(CA5A):c.412G>A (p.Glu138Lys)
|
rs747262976
|
0.00001
|
|
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
|
rs1407821429
|
0.00001
|
|
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
|
rs754607374
|
0.00001
|
|
NM_001739.2(CA5A):c.630G>A (p.Ala210=)
|
rs1399915166
|
0.00001
|
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
|
NM_001739.2(CA5A):c.726G>A (p.Ser242=)
|
rs562598251
|
0.00001
|
|
NM_001739.2(CA5A):c.777C>G (p.Leu259=)
|
rs762128732
|
0.00001
|
|
NM_001739.2(CA5A):c.94C>T (p.Arg32Ter)
|
rs767402215
|
0.00001
|
|
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)
|
rs747138655
|
0.00001
|
|
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser)
|
rs761817028
|
0.00001
|
|
NM_001875.5(CPS1):c.1146G>A (p.Pro382=)
|
rs773257710
|
0.00001
|
|
NM_001875.5(CPS1):c.1165-4C>T
|
rs768180035
|
0.00001
|
|
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)
|
rs754023105
|
0.00001
|
|
NM_001875.5(CPS1):c.1226T>C (p.Val409Ala)
|
rs370342489
|
0.00001
|
|
NM_001875.5(CPS1):c.1227C>A (p.Val409=)
|
rs1394034733
|
0.00001
|
|
NM_001875.5(CPS1):c.1245A>G (p.Leu415=)
|
rs1359323350
|
0.00001
|
|
NM_001875.5(CPS1):c.1263+5G>C
|
rs1275489342
|
0.00001
|
|
NM_001875.5(CPS1):c.1278T>C (p.Leu426=)
|
rs756314968
|
0.00001
|
|
NM_001875.5(CPS1):c.1284A>C (p.Leu428=)
|
rs1574567824
|
0.00001
|
|
NM_001875.5(CPS1):c.1332A>G (p.Ser444=)
|
rs773724891
|
0.00001
|
|
NM_001875.5(CPS1):c.1359+4A>G
|
rs916389428
|
0.00001
|
|
NM_001875.5(CPS1):c.1362A>G (p.Glu454=)
|
rs367595511
|
0.00001
|
|
NM_001875.5(CPS1):c.1395C>T (p.Asn465=)
|
rs1263470631
|
0.00001
|
|
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)
|
rs746395584
|
0.00001
|
|
NM_001875.5(CPS1):c.1426T>C (p.Leu476=)
|
rs1445507619
|
0.00001
|
|
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)
|
rs1419745583
|
0.00001
|
|
NM_001875.5(CPS1):c.1482G>A (p.Glu494=)
|
rs374857825
|
0.00001
|
|
NM_001875.5(CPS1):c.1488C>T (p.Ile496=)
|
rs1457449273
|
0.00001
|
|
NM_001875.5(CPS1):c.1558C>T (p.Leu520=)
|
rs1313193730
|
0.00001
|
|
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly)
|
rs779756731
|
0.00001
|
|
NM_001875.5(CPS1):c.1578C>T (p.Leu526=)
|
rs763001072
|
0.00001
|
|
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln)
|
rs763466112
|
0.00001
|
|
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)
|
rs140092912
|
0.00001
|
|
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
|
rs121912592
|
0.00001
|
|
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu)
|
rs1326614424
|
0.00001
|
|
NM_001875.5(CPS1):c.1650T>C (p.Phe550=)
|
rs1354358473
|
0.00001
|
|
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)
|
rs1698690768
|
0.00001
|
|
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)
|
rs773713162
|
0.00001
|
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
|
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)
|
rs764231738
|
0.00001
|
|
NM_001875.5(CPS1):c.1767C>A (p.Ala589=)
|
rs1574577584
|
0.00001
|
|
NM_001875.5(CPS1):c.1773A>C (p.Ala591=)
|
rs746570258
|
0.00001
|
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
|
NM_001875.5(CPS1):c.1860T>C (p.Ile620=)
|
rs767658438
|
0.00001
|
|
NM_001875.5(CPS1):c.1902T>C (p.Tyr634=)
|
rs763877139
|
0.00001
|
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
|
NM_001875.5(CPS1):c.1977C>T (p.His659=)
|
rs774879922
|
0.00001
|
|
NM_001875.5(CPS1):c.1981+10G>A
|
rs773319112
|
0.00001
|
|
NM_001875.5(CPS1):c.1982-7T>C
|
rs1213843515
|
0.00001
|
|
NM_001875.5(CPS1):c.1982-9G>T
|
rs779387910
|
0.00001
|
|
NM_001875.5(CPS1):c.2061T>C (p.Val687=)
|
rs771497233
|
0.00001
|
|
NM_001875.5(CPS1):c.2106C>A (p.Ala702=)
|
rs533243282
|
0.00001
|
|
NM_001875.5(CPS1):c.2155C>T (p.Leu719=)
|
rs753381839
|
0.00001
|
|
NM_001875.5(CPS1):c.2161C>A (p.Arg721=)
|
rs202107577
|
0.00001
|
|
NM_001875.5(CPS1):c.2193-10C>A
|
rs767881510
|
0.00001
|
|
NM_001875.5(CPS1):c.2193-4A>G
|
rs750884552
|
0.00001
|
|
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)
|
rs749436827
|
0.00001
|
|
NM_001875.5(CPS1):c.2259C>T (p.Val753=)
|
rs771293294
|
0.00001
|
|
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile)
|
rs1237628982
|
0.00001
|
|
NM_001875.5(CPS1):c.2322C>G (p.Pro774=)
|
rs1445208216
|
0.00001
|
|
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)
|
rs758724746
|
0.00001
|
|
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)
|
rs121912596
|
0.00001
|
|
NM_001875.5(CPS1):c.237-4C>A
|
rs777273892
|
0.00001
|
|
NM_001875.5(CPS1):c.2385A>G (p.Val795=)
|
rs768164187
|
0.00001
|
|
NM_001875.5(CPS1):c.2436T>G (p.Ala812=)
|
rs771710751
|
0.00001
|
|
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)
|
rs200731808
|
0.00001
|
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
|
NM_001875.5(CPS1):c.2476C>T (p.Arg826Cys)
|
rs757451824
|
0.00001
|
|
NM_001875.5(CPS1):c.2502A>G (p.Pro834=)
|
rs1382587498
|
0.00001
|
|
NM_001875.5(CPS1):c.2547G>A (p.Thr849=)
|
rs371426184
|
0.00001
|
|
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)
|
rs767694281
|
0.00001
|
|
NM_001875.5(CPS1):c.2559C>G (p.Ala853=)
|
rs754665415
|
0.00001
|
|
NM_001875.5(CPS1):c.2568+8G>A
|
rs765027224
|
0.00001
|
|
NM_001875.5(CPS1):c.2577T>C (p.Asp859=)
|
rs1439343002
|
0.00001
|
|
NM_001875.5(CPS1):c.2589C>G (p.Ser863=)
|
rs139626513
|
0.00001
|
|
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)
|
rs375325824
|
0.00001
|
|
NM_001875.5(CPS1):c.2652T>C (p.Ile884=)
|
rs372620072
|
0.00001
|
|
NM_001875.5(CPS1):c.2687+9G>A
|
rs377094467
|
0.00001
|
|
NM_001875.5(CPS1):c.2727G>A (p.Glu909=)
|
rs1373561767
|
0.00001
|
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
|
NM_001875.5(CPS1):c.2769C>T (p.Leu923=)
|
rs1244905393
|
0.00001
|
|
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)
|
rs150463750
|
0.00001
|
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
|
NM_001875.5(CPS1):c.2829+7G>A
|
rs759086830
|
0.00001
|
|
NM_001875.5(CPS1):c.2829+8A>G
|
rs941366546
|
0.00001
|
|
NM_001875.5(CPS1):c.2830-9C>G
|
rs764400976
|
0.00001
|
|
NM_001875.5(CPS1):c.2860G>T (p.Val954Leu)
|
rs756163174
|
0.00001
|
|
NM_001875.5(CPS1):c.286A>G (p.Met96Val)
|
rs1432483864
|
0.00001
|
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
|
NM_001875.5(CPS1):c.3036G>T (p.Val1012=)
|
rs750243323
|
0.00001
|
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
|
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)
|
rs770471782
|
0.00001
|
|
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=)
|
rs766909251
|
0.00001
|
|
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)
|
rs538878532
|
0.00001
|
|
NM_001875.5(CPS1):c.3282T>C (p.Ala1094=)
|
rs761077723
|
0.00001
|
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
|
NM_001875.5(CPS1):c.3292G>A (p.Glu1098Lys)
|
rs768579926
|
0.00001
|
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
|
NM_001875.5(CPS1):c.330T>G (p.Thr110=)
|
rs777617670
|
0.00001
|
|
NM_001875.5(CPS1):c.3336+4A>G
|
rs776401808
|
0.00001
|
|
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val)
|
rs1391357751
|
0.00001
|
|
NM_001875.5(CPS1):c.3405-10C>T
|
rs1700521088
|
0.00001
|
|
NM_001875.5(CPS1):c.3405-19T>C
|
rs771189677
|
0.00001
|
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
|
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=)
|
rs906879658
|
0.00001
|
|
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
|
rs553145464
|
0.00001
|
|
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu)
|
rs769391518
|
0.00001
|
|
NM_001875.5(CPS1):c.3555A>C (p.Gly1185=)
|
rs775829352
|
0.00001
|
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
|
NM_001875.5(CPS1):c.3559-9T>C
|
rs760610209
|
0.00001
|
|
NM_001875.5(CPS1):c.3576C>T (p.Ile1192=)
|
rs1204885910
|
0.00001
|
|
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)
|
rs1319489001
|
0.00001
|
|
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=)
|
rs778094703
|
0.00001
|
|
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
0.00001
|
|
NM_001875.5(CPS1):c.3666+11A>G
|
rs759823112
|
0.00001
|
|
NM_001875.5(CPS1):c.3666+7A>G
|
rs776903581
|
0.00001
|
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
|
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=)
|
rs760598756
|
0.00001
|
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
|
NM_001875.5(CPS1):c.3753C>T (p.Val1251=)
|
rs758123016
|
0.00001
|
|
NM_001875.5(CPS1):c.3759G>A (p.Val1253=)
|
rs756701188
|
0.00001
|
|
NM_001875.5(CPS1):c.3772T>C (p.Leu1258=)
|
rs768630786
|
0.00001
|
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
|
NM_001875.5(CPS1):c.3795C>T (p.Pro1265=)
|
rs1438414940
|
0.00001
|
|
NM_001875.5(CPS1):c.382-10G>A
|
rs938645149
|
0.00001
|
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
|
NM_001875.5(CPS1):c.3950G>A (p.Arg1317Gln)
|
rs369682093
|
0.00001
|
|
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)
|
rs774434356
|
0.00001
|
|
NM_001875.5(CPS1):c.4003-3C>A
|
rs779886770
|
0.00001
|
|
NM_001875.5(CPS1):c.4003-6A>G
|
rs757472109
|
0.00001
|
|
NM_001875.5(CPS1):c.4059A>C (p.Thr1353=)
|
rs1400368646
|
0.00001
|
|
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=)
|
rs1425920194
|
0.00001
|
|
NM_001875.5(CPS1):c.4074C>G (p.Pro1358=)
|
rs759838283
|
0.00001
|
|
NM_001875.5(CPS1):c.4074C>T (p.Pro1358=)
|
rs759838283
|
0.00001
|
|
NM_001875.5(CPS1):c.4098C>T (p.Ile1366=)
|
rs757362140
|
0.00001
|
|
NM_001875.5(CPS1):c.4101+10T>C
|
rs1701173335
|
0.00001
|
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
|
NM_001875.5(CPS1):c.4134T>G (p.Ala1378=)
|
rs746991241
|
0.00001
|
|
NM_001875.5(CPS1):c.4155T>C (p.Gly1385=)
|
rs1200099747
|
0.00001
|
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
|
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=)
|
rs1300448311
|
0.00001
|
|
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr)
|
rs779382562
|
0.00001
|
|
NM_001875.5(CPS1):c.4200C>T (p.Ala1400=)
|
rs150044077
|
0.00001
|
|
NM_001875.5(CPS1):c.4206T>C (p.Asn1402=)
|
rs1235300832
|
0.00001
|
|
NM_001875.5(CPS1):c.4233G>A (p.Pro1411=)
|
rs760775513
|
0.00001
|
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
|
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)
|
rs752311782
|
0.00001
|
|
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met)
|
rs778325183
|
0.00001
|
|
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=)
|
rs771831155
|
0.00001
|
|
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)
|
rs933813349
|
0.00001
|
|
NM_001875.5(CPS1):c.4389C>A (p.Leu1463=)
|
rs1433915902
|
0.00001
|
|
NM_001875.5(CPS1):c.4410C>T (p.Thr1470=)
|
rs138590011
|
0.00001
|
|
NM_001875.5(CPS1):c.4416T>G (p.Leu1472=)
|
rs1701583781
|
0.00001
|
|
NM_001875.5(CPS1):c.471+14T>C
|
rs914408029
|
0.00001
|
|
NM_001875.5(CPS1):c.474T>C (p.Val158=)
|
rs1697846903
|
0.00001
|
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
|
NM_001875.5(CPS1):c.529-7T>C
|
rs1386014914
|
0.00001
|
|
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
|
rs770935194
|
0.00001
|
|
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)
|
rs769324029
|
0.00001
|
|
NM_001875.5(CPS1):c.690T>C (p.Asn230=)
|
rs762276786
|
0.00001
|
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
|
NM_001875.5(CPS1):c.69G>A (p.Val23=)
|
rs1696927192
|
0.00001
|
|
NM_001875.5(CPS1):c.711+7A>C
|
rs756703955
|
0.00001
|
|
NM_001875.5(CPS1):c.712-10T>G
|
rs767866028
|
0.00001
|
|
NM_001875.5(CPS1):c.726G>A (p.Val242=)
|
rs765377334
|
0.00001
|
|
NM_001875.5(CPS1):c.765G>A (p.Glu255=)
|
rs748743178
|
0.00001
|
|
NM_001875.5(CPS1):c.795G>A (p.Pro265=)
|
rs1174421173
|
0.00001
|
|
NM_001875.5(CPS1):c.831T>C (p.Asn277=)
|
rs1218356698
|
0.00001
|
|
NM_001875.5(CPS1):c.837A>G (p.Arg279=)
|
rs1211571555
|
0.00001
|
|
NM_001875.5(CPS1):c.841-7G>A
|
rs754897201
|
0.00001
|
|
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)
|
rs202130487
|
0.00001
|
|
NM_001875.5(CPS1):c.867A>G (p.Pro289=)
|
rs1441290967
|
0.00001
|
|
NM_001875.5(CPS1):c.8G>T (p.Arg3Met)
|
rs750705469
|
0.00001
|
|
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe)
|
rs1394302181
|
0.00001
|
|
NM_001875.5(CPS1):c.996T>C (p.Ile332=)
|
rs754231161
|
0.00001
|
|
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)
|
rs80356783
|
0.00001
|
|
NM_001876.4(CPT1A):c.105A>G (p.Gly35=)
|
rs1566377603
|
0.00001
|
|
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)
|
rs80356777
|
0.00001
|
|
NM_001876.4(CPT1A):c.1110C>T (p.Thr370=)
|
rs768865335
|
0.00001
|
|
NM_001876.4(CPT1A):c.1113G>A (p.Ser371=)
|
rs756237590
|
0.00001
|
|
NM_001876.4(CPT1A):c.116G>C (p.Trp39Ser)
|
rs766209790
|
0.00001
|
|
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala)
|
rs889632692
|
0.00001
|
|
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val)
|
rs528019785
|
0.00001
|
|
NM_001876.4(CPT1A):c.1320C>T (p.Ala440=)
|
rs773343849
|
0.00001
|
|
NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=)
|
rs769751060
|
0.00001
|
|
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn)
|
rs745680805
|
0.00001
|
|
NM_001876.4(CPT1A):c.1353-17_1353-16del
|
rs757335881
|
0.00001
|
|
NM_001876.4(CPT1A):c.1353-5C>T
|
rs770478804
|
0.00001
|
|
NM_001876.4(CPT1A):c.1368G>A (p.Ser456=)
|
rs563338783
|
0.00001
|
|
NM_001876.4(CPT1A):c.1374G>A (p.Thr458=)
|
rs766448516
|
0.00001
|
|
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg)
|
rs80356784
|
0.00001
|
|
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln)
|
rs1165511243
|
0.00001
|
|
NM_001876.4(CPT1A):c.1465A>G (p.Met489Val)
|
rs1027117038
|
0.00001
|
|
NM_001876.4(CPT1A):c.1500G>A (p.Glu500=)
|
rs760474415
|
0.00001
|
|
NM_001876.4(CPT1A):c.1575+9G>A
|
rs767365466
|
0.00001
|
|
NM_001876.4(CPT1A):c.1608C>T (p.Thr536=)
|
rs756997593
|
0.00001
|
|
NM_001876.4(CPT1A):c.1654G>A (p.Val552Ile)
|
rs764692013
|
0.00001
|
|
NM_001876.4(CPT1A):c.167C>T (p.Pro56Leu)
|
rs1249954316
|
0.00001
|
|
NM_001876.4(CPT1A):c.1686T>C (p.Cys562=)
|
rs771593510
|
0.00001
|
|
NM_001876.4(CPT1A):c.1692G>A (p.Thr564=)
|
rs1159341156
|
0.00001
|
|
NM_001876.4(CPT1A):c.1720C>T (p.Leu574Phe)
|
rs1484699196
|
0.00001
|
|
NM_001876.4(CPT1A):c.1741-4C>G
|
rs1249777003
|
0.00001
|
|
NM_001876.4(CPT1A):c.1767C>T (p.Tyr589=)
|
rs762044597
|
0.00001
|
|
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)
|
rs773153659
|
0.00001
|
|
NM_001876.4(CPT1A):c.1806G>A (p.Thr602=)
|
rs866075317
|
0.00001
|
|
NM_001876.4(CPT1A):c.1812C>T (p.Thr604=)
|
rs772047118
|
0.00001
|
|
NM_001876.4(CPT1A):c.1854C>A (p.Ala618=)
|
rs1380885875
|
0.00001
|
|
NM_001876.4(CPT1A):c.1865C>T (p.Pro622Leu)
|
rs776782808
|
0.00001
|
|
NM_001876.4(CPT1A):c.1866G>A (p.Pro622=)
|
rs771886992
|
0.00001
|
|
NM_001876.4(CPT1A):c.1877T>C (p.Val626Ala)
|
rs768746064
|
0.00001
|
|
NM_001876.4(CPT1A):c.1933C>T (p.Arg645Cys)
|
rs367840385
|
0.00001
|
|
NM_001876.4(CPT1A):c.1946C>T (p.Thr649Ile)
|
rs1369067061
|
0.00001
|
|
NM_001876.4(CPT1A):c.1947C>T (p.Thr649=)
|
rs766536084
|
0.00001
|
|
NM_001876.4(CPT1A):c.1948G>A (p.Gly650Ser)
|
rs760769734
|
0.00001
|
|
NM_001876.4(CPT1A):c.2001C>T (p.Leu667=)
|
rs370172029
|
0.00001
|
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
|
NM_001876.4(CPT1A):c.2142+11C>T
|
rs1192871538
|
0.00001
|
|
NM_001876.4(CPT1A):c.2169G>A (p.Ser723=)
|
rs761120296
|
0.00001
|
|
NM_001876.4(CPT1A):c.216G>A (p.Thr72=)
|
rs759964195
|
0.00001
|
|
NM_001876.4(CPT1A):c.222C>T (p.Tyr74=)
|
rs398123654
|
0.00001
|
|
NM_001876.4(CPT1A):c.2259C>T (p.His753=)
|
rs752442128
|
0.00001
|
|
NM_001876.4(CPT1A):c.2283C>T (p.Ile761=)
|
rs761306389
|
0.00001
|
|
NM_001876.4(CPT1A):c.231C>T (p.Ile77=)
|
rs1856241635
|
0.00001
|
|
NM_001876.4(CPT1A):c.247A>G (p.Ile83Val)
|
rs748174436
|
0.00001
|
|
NM_001876.4(CPT1A):c.263A>G (p.Asn88Ser)
|
rs781040444
|
0.00001
|
|
NM_001876.4(CPT1A):c.265C>T (p.Arg89Trp)
|
rs574346392
|
0.00001
|
|
NM_001876.4(CPT1A):c.281+1G>A
|
rs191107774
|
0.00001
|
|
NM_001876.4(CPT1A):c.292T>A (p.Ser98Thr)
|
rs201446439
|
0.00001
|
|
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn)
|
rs766819782
|
0.00001
|
|
NM_001876.4(CPT1A):c.319G>A (p.Gly107Ser)
|
rs773497434
|
0.00001
|
|
NM_001876.4(CPT1A):c.399C>T (p.His133=)
|
rs753243767
|
0.00001
|
|
NM_001876.4(CPT1A):c.440C>T (p.Thr147Ile)
|
rs760683406
|
0.00001
|
|
NM_001876.4(CPT1A):c.477C>A (p.Gly159=)
|
rs895684720
|
0.00001
|
|
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=)
|
rs139789100
|
0.00001
|
|
NM_001876.4(CPT1A):c.504G>A (p.Gln168=)
|
rs755282175
|
0.00001
|
|
NM_001876.4(CPT1A):c.510G>A (p.Ser170=)
|
rs766492086
|
0.00001
|
|
NM_001876.4(CPT1A):c.519C>A (p.Arg173=)
|
rs1462501450
|
0.00001
|
|
NM_001876.4(CPT1A):c.56T>C (p.Ile19Thr)
|
rs1306340710
|
0.00001
|
|
NM_001876.4(CPT1A):c.588A>G (p.Glu196=)
|
rs772625735
|
0.00001
|
|
NM_001876.4(CPT1A):c.589G>T (p.Glu197Ter)
|
rs1211665230
|
0.00001
|
|
NM_001876.4(CPT1A):c.675C>T (p.Ser225=)
|
rs866295650
|
0.00001
|
|
NM_001876.4(CPT1A):c.694-9G>A
|
rs771162679
|
0.00001
|
|
NM_001876.4(CPT1A):c.699C>T (p.Ser233=)
|
rs777831837
|
0.00001
|
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
|
NM_001876.4(CPT1A):c.744C>T (p.Leu248=)
|
rs763514947
|
0.00001
|
|
NM_001876.4(CPT1A):c.771+16C>T
|
rs1323194775
|
0.00001
|
|
NM_001876.4(CPT1A):c.771+18G>T
|
rs1016553533
|
0.00001
|
|
NM_001876.4(CPT1A):c.789T>C (p.Leu263=)
|
rs1273057192
|
0.00001
|
|
NM_001876.4(CPT1A):c.816C>T (p.Ala272=)
|
rs368042078
|
0.00001
|
|
NM_001876.4(CPT1A):c.822C>T (p.Asn274=)
|
rs774440104
|
0.00001
|
|
NM_001876.4(CPT1A):c.847A>C (p.Arg283=)
|
rs1173914550
|
0.00001
|
|
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys)
|
rs780487379
|
0.00001
|
|
NM_001876.4(CPT1A):c.912C>T (p.Cys304=)
|
rs80356789
|
0.00001
|
|
NM_001876.4(CPT1A):c.945C>G (p.Ser315=)
|
rs1013648059
|
0.00001
|
|
NM_001876.4(CPT1A):c.967+11C>G
|
rs201996551
|
0.00001
|
|
NM_001876.4(CPT1A):c.968-11G>A
|
rs755131342
|
0.00001
|
|
NM_001876.4(CPT1A):c.968-4T>C
|
rs1186244631
|
0.00001
|
|
NM_001876.4(CPT1A):c.990C>T (p.Asp330=)
|
rs762563555
|
0.00001
|
|
NM_001918.5(DBT):c.1017+8A>G
|
rs541924732
|
0.00001
|
|
NM_001918.5(DBT):c.1017G>A (p.Lys339=)
|
rs1490661508
|
0.00001
|
|
NM_001918.5(DBT):c.1018-10T>A
|
rs1328647470
|
0.00001
|
|
NM_001918.5(DBT):c.1110C>T (p.Ile370=)
|
rs771962372
|
0.00001
|
|
NM_001918.5(DBT):c.1138T>C (p.Leu380=)
|
rs756606257
|
0.00001
|
|
NM_001918.5(DBT):c.1158C>T (p.Leu386=)
|
rs139943180
|
0.00001
|
|
NM_001918.5(DBT):c.1171C>T (p.Leu391Phe)
|
rs1339599491
|
0.00001
|
|
NM_001918.5(DBT):c.1173T>G (p.Leu391=)
|
rs763246178
|
0.00001
|
|
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)
|
rs1449113689
|
0.00001
|
|
NM_001918.5(DBT):c.1210-18_1210-9del
|
rs780660910
|
0.00001
|
|
NM_001918.5(DBT):c.1217G>T (p.Gly406Val)
|
rs767154711
|
0.00001
|
|
NM_001918.5(DBT):c.1261G>T (p.Gly421Trp)
|
rs796051945
|
0.00001
|
|
NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)
|
rs398123660
|
0.00001
|
|
NM_001918.5(DBT):c.1320G>A (p.Lys440=)
|
rs1243840387
|
0.00001
|
|
NM_001918.5(DBT):c.1350T>G (p.Ala450=)
|
rs149959750
|
0.00001
|
|
NM_001918.5(DBT):c.1371T>C (p.Gly457=)
|
rs1188716932
|
0.00001
|
|
NM_001918.5(DBT):c.1384C>T (p.Arg462Cys)
|
rs765257706
|
0.00001
|
|
NM_001918.5(DBT):c.1385G>A (p.Arg462His)
|
rs750594890
|
0.00001
|
|
NM_001918.5(DBT):c.1392C>T (p.Ser464=)
|
rs765967170
|
0.00001
|
|
NM_001918.5(DBT):c.1430T>G (p.Met477Arg)
|
rs398123662
|
0.00001
|
|
NM_001918.5(DBT):c.176-4G>A
|
rs769021966
|
0.00001
|
|
NM_001918.5(DBT):c.198G>A (p.Gln66=)
|
rs201714436
|
0.00001
|
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
|
NM_001918.5(DBT):c.231A>G (p.Arg77=)
|
rs1028461413
|
0.00001
|
|
NM_001918.5(DBT):c.270T>C (p.Asp90=)
|
rs913574975
|
0.00001
|
|
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys)
|
rs727503896
|
0.00001
|
|
NM_001918.5(DBT):c.378C>T (p.Asp126=)
|
rs1410915223
|
0.00001
|
|
NM_001918.5(DBT):c.387C>T (p.Ala129=)
|
rs200503541
|
0.00001
|
|
NM_001918.5(DBT):c.420G>A (p.Thr140=)
|
rs771792232
|
0.00001
|
|
NM_001918.5(DBT):c.42G>A (p.Ala14=)
|
rs758610837
|
0.00001
|
|
NM_001918.5(DBT):c.434-15_434-4del
|
rs727503895
|
0.00001
|
|
NM_001918.5(DBT):c.495G>A (p.Glu165=)
|
rs1481747202
|
0.00001
|
|
NM_001918.5(DBT):c.52-1G>A
|
rs755914063
|
0.00001
|
|
NM_001918.5(DBT):c.52-5del
|
rs1234151678
|
0.00001
|
|
NM_001918.5(DBT):c.5C>T (p.Ala2Val)
|
rs398123672
|
0.00001
|
|
NM_001918.5(DBT):c.61C>T (p.Arg21Cys)
|
rs398123673
|
0.00001
|
|
NM_001918.5(DBT):c.624T>C (p.Tyr208=)
|
rs752504160
|
0.00001
|
|
NM_001918.5(DBT):c.673A>C (p.Ile225Leu)
|
rs1472099889
|
0.00001
|
|
NM_001918.5(DBT):c.765C>T (p.Pro255=)
|
rs767126022
|
0.00001
|
|
NM_001918.5(DBT):c.772+7A>T
|
rs904010521
|
0.00001
|
|
NM_001918.5(DBT):c.781A>G (p.Lys261Glu)
|
rs926492799
|
0.00001
|
|
NM_001918.5(DBT):c.815A>G (p.Lys272Arg)
|
rs1662393960
|
0.00001
|
|
NM_001918.5(DBT):c.836G>T (p.Cys279Phe)
|
rs1662392597
|
0.00001
|
|
NM_001918.5(DBT):c.837T>C (p.Cys279=)
|
rs1662392437
|
0.00001
|
|
NM_001918.5(DBT):c.871C>T (p.Arg291Ter)
|
rs398123675
|
0.00001
|
|
NM_001918.5(DBT):c.884A>G (p.Lys295Arg)
|
rs139216072
|
0.00001
|
|
NM_001918.5(DBT):c.902G>A (p.Arg301His)
|
rs770981889
|
0.00001
|
|
NM_001918.5(DBT):c.939+9C>T
|
rs779947502
|
0.00001
|
|
NM_001918.5(DBT):c.939G>C (p.Lys313Asn)
|
rs398123676
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1029+4G>C
|
rs945481319
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1029+9C>T
|
rs2082373589
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1030-5C>T
|
rs1428414395
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1064C>T (p.Ala355Val)
|
rs146728528
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1065C>T (p.Ala355=)
|
rs998259316
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1102A>G (p.Ile368Val)
|
rs2082366535
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1104C>T (p.Ile368=)
|
rs965429825
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr)
|
rs1490454929
|
0.00001
|
|
NM_001958.5(EEF1A2):c.120G>A (p.Glu40=)
|
rs897078195
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1264+8G>A
|
rs940966378
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1265-4C>A
|
rs562688898
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1265-9G>T
|
rs2082362753
|
0.00001
|
|
NM_001958.5(EEF1A2):c.126C>T (p.Phe42=)
|
rs746596211
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1338C>T (p.Gly446=)
|
rs779261770
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1339G>A (p.Gly447Ser)
|
rs934642118
|
0.00001
|
|
NM_001958.5(EEF1A2):c.1382C>T (p.Ala461Val)
|
rs757556226
|
0.00001
|
|
NM_001958.5(EEF1A2):c.138G>A (p.Ala46=)
|
rs1212477042
|
0.00001
|
|
NM_001958.5(EEF1A2):c.145-7G>T
|
rs536472004
|
0.00001
|
|
NM_001958.5(EEF1A2):c.240C>T (p.Phe80=)
|
rs777444750
|
0.00001
|
|
NM_001958.5(EEF1A2):c.325-7C>T
|
rs760916766
|
0.00001
|
|
NM_001958.5(EEF1A2):c.325-8C>T
|
rs769119480
|
0.00001
|
|
NM_001958.5(EEF1A2):c.363C>T (p.Gly121=)
|
rs746290505
|
0.00001
|
|
NM_001958.5(EEF1A2):c.387G>A (p.Lys129=)
|
rs754118857
|
0.00001
|
|
NM_001958.5(EEF1A2):c.412C>T (p.Leu138=)
|
rs900745409
|
0.00001
|
|
NM_001958.5(EEF1A2):c.426G>A (p.Thr142=)
|
rs751391189
|
0.00001
|
|
NM_001958.5(EEF1A2):c.447C>T (p.Ile149=)
|
rs772964838
|
0.00001
|
|
NM_001958.5(EEF1A2):c.459C>T (p.Asn153=)
|
rs761190222
|
0.00001
|
|
NM_001958.5(EEF1A2):c.45C>T (p.His15=)
|
rs546748631
|
0.00001
|
|
NM_001958.5(EEF1A2):c.489C>T (p.Ser163=)
|
rs138632721
|
0.00001
|
|
NM_001958.5(EEF1A2):c.501C>T (p.Tyr167=)
|
rs773761730
|
0.00001
|
|
NM_001958.5(EEF1A2):c.510C>T (p.Ile170=)
|
rs1425598851
|
0.00001
|
|
NM_001958.5(EEF1A2):c.621+19G>A
|
rs982607125
|
0.00001
|
|
NM_001958.5(EEF1A2):c.622-4C>G
|
rs1313830443
|
0.00001
|
|
NM_001958.5(EEF1A2):c.626C>T (p.Pro209Leu)
|
rs768753735
|
0.00001
|
|
NM_001958.5(EEF1A2):c.638G>T (p.Gly213Val)
|
rs1390638586
|
0.00001
|
|
NM_001958.5(EEF1A2):c.666C>T (p.Asn222=)
|
rs1023284810
|
0.00001
|
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
|
NM_001958.5(EEF1A2):c.693C>T (p.Ala231=)
|
rs888357801
|
0.00001
|
|
NM_001958.5(EEF1A2):c.739C>T (p.Arg247Cys)
|
rs1325353717
|
0.00001
|
|
NM_001958.5(EEF1A2):c.759G>T (p.Val253=)
|
rs372796244
|
0.00001
|
|
NM_001958.5(EEF1A2):c.792G>C (p.Val264=)
|
rs777241260
|
0.00001
|
|
NM_001958.5(EEF1A2):c.842C>T (p.Ala281Val)
|
rs1166766963
|
0.00001
|
|
NM_001958.5(EEF1A2):c.873A>G (p.Ser291=)
|
rs772266559
|
0.00001
|
|
NM_001958.5(EEF1A2):c.876G>A (p.Val292=)
|
rs112732285
|
0.00001
|
|
NM_001958.5(EEF1A2):c.888C>T (p.His296=)
|
rs762804574
|
0.00001
|
|
NM_001958.5(EEF1A2):c.895C>T (p.Leu299=)
|
rs1309447992
|
0.00001
|
|
NM_001958.5(EEF1A2):c.900C>T (p.Ser300=)
|
rs374349515
|
0.00001
|
|
NM_001958.5(EEF1A2):c.915C>T (p.Gly305=)
|
rs377239518
|
0.00001
|
|
NM_001958.5(EEF1A2):c.942C>T (p.Asn314=)
|
rs758126231
|
0.00001
|
|
NM_001958.5(EEF1A2):c.948G>A (p.Ser316=)
|
rs750037526
|
0.00001
|
|
NM_001958.5(EEF1A2):c.954G>A (p.Lys318=)
|
rs1203123076
|
0.00001
|
|
NM_001985.3(ETFB):c.113T>C (p.Met38Thr)
|
rs775541180
|
0.00001
|
|
NM_001985.3(ETFB):c.151C>A (p.Arg51=)
|
rs1308673942
|
0.00001
|
|
NM_001985.3(ETFB):c.189C>T (p.Ala63=)
|
rs267605609
|
0.00001
|
|
NM_001985.3(ETFB):c.293G>A (p.Arg98His)
|
rs761063406
|
0.00001
|
|
NM_001985.3(ETFB):c.438+5G>T
|
rs1450691951
|
0.00001
|
|
NM_001985.3(ETFB):c.439-14C>T
|
rs756770328
|
0.00001
|
|
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp)
|
rs148045813
|
0.00001
|
|
NM_001985.3(ETFB):c.57+16del
|
rs529887209
|
0.00001
|
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
|
NM_001985.3(ETFB):c.572G>A (p.Arg191His)
|
rs769951998
|
0.00001
|
|
NM_001985.3(ETFB):c.597+6C>T
|
rs539989327
|
0.00001
|
|
NM_001985.3(ETFB):c.597+8C>T
|
rs758639864
|
0.00001
|
|
NM_001985.3(ETFB):c.598-14C>T
|
rs750381743
|
0.00001
|
|
NM_001985.3(ETFB):c.645dup (p.Val216fs)
|
rs1428088327
|
0.00001
|
|
NM_001985.3(ETFB):c.90C>A (p.Val30=)
|
rs1986016385
|
0.00001
|
|
NM_001985.3(ETFB):c.92C>T (p.Thr31Met)
|
rs371751519
|
0.00001
|
|
NM_002150.3(HPD):c.1106A>G (p.Lys369Arg)
|
rs777094600
|
0.00001
|
|
NM_002150.3(HPD):c.1159A>G (p.Asn387Asp)
|
rs754985728
|
0.00001
|
|
NM_002150.3(HPD):c.156C>T (p.Thr52=)
|
rs776140021
|
0.00001
|
|
NM_002150.3(HPD):c.247G>A (p.Gly83Ser)
|
rs766105515
|
0.00001
|
|
NM_002150.3(HPD):c.273C>T (p.Asp91=)
|
rs777153098
|
0.00001
|
|
NM_002150.3(HPD):c.274G>A (p.Gly92Arg)
|
rs771382964
|
0.00001
|
|
NM_002150.3(HPD):c.43C>T (p.Arg15Ter)
|
rs775747384
|
0.00001
|
|
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys)
|
rs137852865
|
0.00001
|
|
NM_002150.3(HPD):c.574G>A (p.Glu192Lys)
|
rs1877675977
|
0.00001
|
|
NM_002150.3(HPD):c.580G>T (p.Val194Leu)
|
rs570445297
|
0.00001
|
|
NM_002150.3(HPD):c.75G>A (p.Trp25Ter)
|
rs367674632
|
0.00001
|
|
NM_002150.3(HPD):c.765T>C (p.Tyr255=)
|
rs767720774
|
0.00001
|
|
NM_002150.3(HPD):c.832-11C>T
|
rs1877487606
|
0.00001
|
|
NM_002150.3(HPD):c.954+5G>A
|
rs1252680307
|
0.00001
|
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
|
NM_002225.5(IVD):c.1014G>A (p.Gln338=)
|
rs1891648588
|
0.00001
|
|
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
|
rs1401482066
|
0.00001
|
|
NM_002225.5(IVD):c.1053T>C (p.His351=)
|
rs763091729
|
0.00001
|
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
|
NM_002225.5(IVD):c.1138+1G>A
|
rs1193235415
|
0.00001
|
|
NM_002225.5(IVD):c.1146T>C (p.Asn382=)
|
rs1419468231
|
0.00001
|
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
|
NM_002225.5(IVD):c.1185A>G (p.Arg395=)
|
rs375709475
|
0.00001
|
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
|
NM_002225.5(IVD):c.123G>C (p.Gly41=)
|
rs139179135
|
0.00001
|
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
|
NM_002225.5(IVD):c.145-5A>G
|
rs746358275
|
0.00001
|
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
|
NM_002225.5(IVD):c.204C>T (p.Ile68=)
|
rs780579571
|
0.00001
|
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
|
NM_002225.5(IVD):c.235-8G>A
|
rs1035492488
|
0.00001
|
|
NM_002225.5(IVD):c.252G>A (p.Leu84=)
|
rs756466515
|
0.00001
|
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
|
NM_002225.5(IVD):c.27G>T (p.Gly9=)
|
rs760413553
|
0.00001
|
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
|
NM_002225.5(IVD):c.297C>T (p.Gly99=)
|
rs377129112
|
0.00001
|
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
|
NM_002225.5(IVD):c.330G>A (p.Leu110=)
|
rs746017260
|
0.00001
|
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
|
NM_002225.5(IVD):c.372C>T (p.Leu124=)
|
rs964820890
|
0.00001
|
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
|
NM_002225.5(IVD):c.453G>A (p.Pro151=)
|
rs535261722
|
0.00001
|
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
|
NM_002225.5(IVD):c.457-9T>C
|
rs1418302146
|
0.00001
|
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
|
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
|
rs1033930341
|
0.00001
|
|
NM_002225.5(IVD):c.477C>T (p.Ile159=)
|
rs758187120
|
0.00001
|
|
NM_002225.5(IVD):c.486G>A (p.Leu162=)
|
rs755094829
|
0.00001
|
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
|
NM_002225.5(IVD):c.57G>A (p.Pro19=)
|
rs1277276427
|
0.00001
|
|
NM_002225.5(IVD):c.666C>T (p.Ile222=)
|
rs772662373
|
0.00001
|
|
NM_002225.5(IVD):c.675C>T (p.Phe225=)
|
rs749242305
|
0.00001
|
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552
|
0.00001
|
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
|
NM_002225.5(IVD):c.759A>T (p.Leu253=)
|
rs1237759561
|
0.00001
|
|
NM_002225.5(IVD):c.784+12C>T
|
rs572858305
|
0.00001
|
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
|
NM_002225.5(IVD):c.785-4G>A
|
rs369133260
|
0.00001
|
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
|
NM_002225.5(IVD):c.798G>C (p.Leu266=)
|
rs1263112437
|
0.00001
|
|
NM_002225.5(IVD):c.81G>A (p.Gln27=)
|
rs898534021
|
0.00001
|
|
NM_002225.5(IVD):c.822C>T (p.Tyr274=)
|
rs375580399
|
0.00001
|
|
NM_002225.5(IVD):c.864C>T (p.Ala288=)
|
rs1566939786
|
0.00001
|
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
|
NM_002225.5(IVD):c.948C>T (p.Ile316=)
|
rs754100750
|
0.00001
|
|
NM_002225.5(IVD):c.960+7C>T
|
rs113361784
|
0.00001
|
|
NM_002225.5(IVD):c.972G>A (p.Gly324=)
|
rs748522492
|
0.00001
|
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
|
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
|
rs140944718
|
0.00001
|
|
NM_002454.3(MTRR):c.1041A>G (p.Ala347=)
|
rs1331838959
|
0.00001
|
|
NM_002454.3(MTRR):c.1057+7G>T
|
rs767794040
|
0.00001
|
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
|
NM_002454.3(MTRR):c.1131A>C (p.Arg377=)
|
rs1050662553
|
0.00001
|
|
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)
|
rs746404785
|
0.00001
|
|
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)
|
rs1243456483
|
0.00001
|
|
NM_002454.3(MTRR):c.1147-6T>C
|
rs781413511
|
0.00001
|
|
NM_002454.3(MTRR):c.1147-8T>C
|
rs961118885
|
0.00001
|
|
NM_002454.3(MTRR):c.1149A>G (p.Ala383=)
|
rs748418818
|
0.00001
|
|
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)
|
rs1421007019
|
0.00001
|
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
|
NM_002454.3(MTRR):c.1227G>A (p.Gly409=)
|
rs1250182164
|
0.00001
|
|
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=)
|
rs755507944
|
0.00001
|
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
|
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)
|
rs749461781
|
0.00001
|
|
NM_002454.3(MTRR):c.1257T>C (p.Asp419=)
|
rs1292824472
|
0.00001
|
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
|
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)
|
rs937595017
|
0.00001
|
|
NM_002454.3(MTRR):c.130-12C>G
|
rs764724859
|
0.00001
|
|
NM_002454.3(MTRR):c.1311A>G (p.Pro437=)
|
rs755561250
|
0.00001
|
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
|
NM_002454.3(MTRR):c.1371-10A>G
|
rs368498814
|
0.00001
|
|
NM_002454.3(MTRR):c.13C>T (p.Leu5=)
|
rs763313419
|
0.00001
|
|
NM_002454.3(MTRR):c.1443A>G (p.Thr481=)
|
rs1359474445
|
0.00001
|
|
NM_002454.3(MTRR):c.1527T>C (p.His509=)
|
rs1483514424
|
0.00001
|
|
NM_002454.3(MTRR):c.1533C>T (p.Asp511=)
|
rs1269324233
|
0.00001
|
|
NM_002454.3(MTRR):c.1546C>T (p.Leu516=)
|
rs1268958481
|
0.00001
|
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
|
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)
|
rs1343250131
|
0.00001
|
|
NM_002454.3(MTRR):c.1593C>T (p.His531=)
|
rs778082216
|
0.00001
|
|
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)
|
rs771421325
|
0.00001
|
|
NM_002454.3(MTRR):c.1602T>C (p.Asp534=)
|
rs1738404887
|
0.00001
|
|
NM_002454.3(MTRR):c.1666C>T (p.Leu556=)
|
rs762466500
|
0.00001
|
|
NM_002454.3(MTRR):c.1676+10T>C
|
rs757713803
|
0.00001
|
|
NM_002454.3(MTRR):c.1677-6A>G
|
rs780299669
|
0.00001
|
|
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)
|
rs771123203
|
0.00001
|
|
NM_002454.3(MTRR):c.1764A>G (p.Leu588=)
|
rs766927577
|
0.00001
|
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
|
NM_002454.3(MTRR):c.1791T>C (p.Leu597=)
|
rs767659059
|
0.00001
|
|
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)
|
rs1318949494
|
0.00001
|
|
NM_002454.3(MTRR):c.1857A>G (p.Glu619=)
|
rs1416687292
|
0.00001
|
|
NM_002454.3(MTRR):c.1869G>A (p.Lys623=)
|
rs768364684
|
0.00001
|
|
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)
|
rs144020429
|
0.00001
|
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
|
NM_002454.3(MTRR):c.1917C>A (p.Ile639=)
|
rs778699591
|
0.00001
|
|
NM_002454.3(MTRR):c.1952+14G>A
|
rs557018438
|
0.00001
|
|
NM_002454.3(MTRR):c.1992T>C (p.Leu664=)
|
rs375588388
|
0.00001
|
|
NM_002454.3(MTRR):c.2031A>G (p.Leu677=)
|
rs367590648
|
0.00001
|
|
NM_002454.3(MTRR):c.2052C>T (p.Ala684=)
|
rs1427160228
|
0.00001
|
|
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=)
|
rs984089159
|
0.00001
|
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
|
NM_002454.3(MTRR):c.303C>T (p.Tyr101=)
|
rs1748681766
|
0.00001
|
|
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)
|
rs1484416611
|
0.00001
|
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
|
NM_002454.3(MTRR):c.378T>C (p.Thr126=)
|
rs577851734
|
0.00001
|
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
|
NM_002454.3(MTRR):c.39A>G (p.Gly13=)
|
rs752509731
|
0.00001
|
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
|
NM_002454.3(MTRR):c.401+1G>A
|
rs1400065323
|
0.00001
|
|
NM_002454.3(MTRR):c.401+9A>G
|
rs376866907
|
0.00001
|
|
NM_002454.3(MTRR):c.423G>A (p.Pro141=)
|
rs753947379
|
0.00001
|
|
NM_002454.3(MTRR):c.432T>G (p.Ala144=)
|
rs116439533
|
0.00001
|
|
NM_002454.3(MTRR):c.477A>G (p.Gly159=)
|
rs1270504511
|
0.00001
|
|
NM_002454.3(MTRR):c.487A>G (p.Ile163Val)
|
rs886060804
|
0.00001
|
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
|
NM_002454.3(MTRR):c.504G>A (p.Pro168=)
|
rs746183496
|
0.00001
|
|
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)
|
rs1182297284
|
0.00001
|
|
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)
|
rs753325140
|
0.00001
|
|
NM_002454.3(MTRR):c.588C>T (p.Phe196=)
|
rs776897289
|
0.00001
|
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
|
NM_002454.3(MTRR):c.594T>C (p.Asp198=)
|
rs773514527
|
0.00001
|
|
NM_002454.3(MTRR):c.612T>C (p.Ser204=)
|
rs374670570
|
0.00001
|
|
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)
|
rs1238722351
|
0.00001
|
|
NM_002454.3(MTRR):c.708A>G (p.Ser236=)
|
rs372700667
|
0.00001
|
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
|
NM_002454.3(MTRR):c.744A>G (p.Glu248=)
|
rs749341418
|
0.00001
|
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
|
NM_002454.3(MTRR):c.780+20T>C
|
rs563392085
|
0.00001
|
|
NM_002454.3(MTRR):c.807A>G (p.Ser269=)
|
rs1348478237
|
0.00001
|
|
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)
|
rs1377146830
|
0.00001
|
|
NM_002454.3(MTRR):c.84A>G (p.Val28=)
|
rs1045121482
|
0.00001
|
|
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)
|
rs766083570
|
0.00001
|
|
NM_002454.3(MTRR):c.903+19T>A
|
rs930028739
|
0.00001
|
|
NM_002454.3(MTRR):c.904-10del
|
rs1467919139
|
0.00001
|
|
NM_002454.3(MTRR):c.936C>T (p.Ala312=)
|
rs777075473
|
0.00001
|
|
NM_002454.3(MTRR):c.942C>T (p.Ser314=)
|
rs770336060
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1041G>A (p.Lys347=)
|
rs2097862079
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1233G>T (p.Leu411Phe)
|
rs758828421
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1247-19C>G
|
rs772575442
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1274G>C (p.Arg425Pro)
|
rs1413173287
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1315G>A (p.Gly439Ser)
|
rs141292408
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1320G>A (p.Leu440=)
|
rs537092003
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1335C>T (p.Ala445=)
|
rs771965130
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1448G>A (p.Arg483His)
|
rs756168752
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1589A>C (p.Lys530Thr)
|
rs560598479
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1598T>G (p.Val533Gly)
|
rs796197665
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1635T>C (p.Leu545=)
|
rs368774840
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1636T>C (p.Cys546Arg)
|
rs753157831
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.164G>A (p.Arg55His)
|
rs754880517
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1732G>C (p.Gly578Arg)
|
rs1085307606
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1741G>A (p.Glu581Lys)
|
rs777991529
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1797G>C (p.Arg599Ser)
|
rs752764884
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.1942C>T (p.Pro648Ser)
|
rs768964431
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2034G>A (p.Val678=)
|
rs1328125928
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2077A>G (p.Ser693Gly)
|
rs1363547996
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys)
|
rs758219423
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile)
|
rs756291410
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His)
|
rs752669339
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2194C>T (p.Arg732Cys)
|
rs760203992
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter)
|
rs1462559161
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=)
|
rs773545430
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.378C>T (p.Arg126=)
|
rs773835343
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His)
|
rs768323248
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.512C>T (p.Ala171Val)
|
rs1268586078
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.551C>T (p.Ala184Val)
|
rs201428777
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.558+6A>G
|
rs751771445
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.559-19A>G
|
rs776600555
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.598C>T (p.Arg200Cys)
|
rs201801058
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.602G>A (p.Arg201Gln)
|
rs757660360
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)
|
rs758543218
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.75C>T (p.Thr25=)
|
rs759465204
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.781C>A (p.Leu261Ile)
|
rs200172733
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.809-12T>C
|
rs777274822
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.809-3T>G
|
rs755947818
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.934-7T>A
|
rs772389382
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=)
|
rs751578810
|
0.00001
|
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1056C>G (p.Ser352=)
|
rs767184689
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1065T>C (p.Asp355=)
|
rs967912210
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1083C>T (p.Pro361=)
|
rs768964697
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1096C>T (p.Leu366=)
|
rs1410013974
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1137A>G (p.Pro379=)
|
rs774667916
|
0.00001
|
|
NM_003042.4(SLC6A1):c.114G>A (p.Ala38=)
|
rs139224269
|
0.00001
|
|
NM_003042.4(SLC6A1):c.115G>A (p.Ala39Thr)
|
rs866130390
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1191+3del
|
rs1486885212
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1191+7G>A
|
rs753558292
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1249C>T (p.Arg417Cys)
|
rs774371133
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1255C>T (p.Arg419Cys)
|
rs910130675
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1256G>A (p.Arg419His)
|
rs941588071
|
0.00001
|
|
NM_003042.4(SLC6A1):c.12C>T (p.Asn4=)
|
rs978516736
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1323+17C>G
|
rs1697783020
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1324-14T>A
|
rs1228458713
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1324-9A>G
|
rs758526997
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1343A>G (p.Lys448Arg)
|
rs781635525
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1383G>C (p.Leu461=)
|
rs1160002015
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1426+13C>G
|
rs776382632
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1426+7A>G
|
rs1697896460
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1426G>A (p.Gly476Ser)
|
rs1328806521
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1435C>A (p.Arg479=)
|
rs745529755
|
0.00001
|
|
NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn)
|
rs751216831
|
0.00001
|
|
NM_003042.4(SLC6A1):c.149G>A (p.Arg50His)
|
rs766945941
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1527+11G>A
|
rs1006629615
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1528-5T>C
|
rs748037660
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1530C>T (p.Gly510=)
|
rs199832552
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1560G>A (p.Thr520=)
|
rs780977371
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1624C>T (p.Leu542=)
|
rs746102316
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1664T>C (p.Met555Thr)
|
rs755011081
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1683C>T (p.Gly561=)
|
rs777068422
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1696-3C>T
|
rs763356899
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1696-7C>T
|
rs770154222
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1748G>T (p.Gly583Val)
|
rs1274193602
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1767G>A (p.Ala589=)
|
rs748298652
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1785G>A (p.Lys595=)
|
rs536318043
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1791C>G (p.Ala597=)
|
rs202231185
|
0.00001
|
|
NM_003042.4(SLC6A1):c.1793A>G (p.Tyr598Cys)
|
rs1258130231
|
0.00001
|
|
NM_003042.4(SLC6A1):c.186C>T (p.Ile62=)
|
rs1465313059
|
0.00001
|
|
NM_003042.4(SLC6A1):c.199G>A (p.Val67Ile)
|
rs1479789276
|
0.00001
|
|
NM_003042.4(SLC6A1):c.222C>T (p.Cys74=)
|
rs139045747
|
0.00001
|
|
NM_003042.4(SLC6A1):c.238+5G>T
|
rs747465142
|
0.00001
|
|
NM_003042.4(SLC6A1):c.239-13T>C
|
rs763764950
|
0.00001
|
|
NM_003042.4(SLC6A1):c.271A>G (p.Ile91Val)
|
rs758250115
|
0.00001
|
|
NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)
|
rs751108300
|
0.00001
|
|
NM_003042.4(SLC6A1):c.291C>A (p.Leu97=)
|
rs1424265759
|
0.00001
|
|
NM_003042.4(SLC6A1):c.328A>G (p.Ile110Val)
|
rs1270312556
|
0.00001
|
|
NM_003042.4(SLC6A1):c.333G>A (p.Gly111=)
|
rs749594860
|
0.00001
|
|
NM_003042.4(SLC6A1):c.351G>A (p.Lys117=)
|
rs148698856
|
0.00001
|
|
NM_003042.4(SLC6A1):c.371-5C>T
|
rs1297168513
|
0.00001
|
|
NM_003042.4(SLC6A1):c.371-8G>A
|
rs774167411
|
0.00001
|
|
NM_003042.4(SLC6A1):c.38T>C (p.Ile13Thr)
|
rs781163448
|
0.00001
|
|
NM_003042.4(SLC6A1):c.396A>G (p.Leu132=)
|
rs754242081
|
0.00001
|
|
NM_003042.4(SLC6A1):c.453G>A (p.Leu151=)
|
rs1697264815
|
0.00001
|
|
NM_003042.4(SLC6A1):c.471G>A (p.Thr157=)
|
rs780692463
|
0.00001
|
|
NM_003042.4(SLC6A1):c.474A>C (p.Thr158=)
|
rs780468448
|
0.00001
|
|
NM_003042.4(SLC6A1):c.52A>G (p.Ser18Gly)
|
rs935976612
|
0.00001
|
|
NM_003042.4(SLC6A1):c.546T>G (p.Thr182=)
|
rs760766783
|
0.00001
|
|
NM_003042.4(SLC6A1):c.582-3C>T
|
rs368174761
|
0.00001
|
|
NM_003042.4(SLC6A1):c.583C>T (p.Arg195Cys)
|
rs769934894
|
0.00001
|
|
NM_003042.4(SLC6A1):c.585C>T (p.Arg195=)
|
rs978823137
|
0.00001
|
|
NM_003042.4(SLC6A1):c.589A>G (p.Met197Val)
|
rs1031299891
|
0.00001
|
|
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)
|
rs1697439559
|
0.00001
|
|
NM_003042.4(SLC6A1):c.603G>A (p.Thr201=)
|
rs762985616
|
0.00001
|
|
NM_003042.4(SLC6A1):c.711A>T (p.Gly237=)
|
rs917843581
|
0.00001
|
|
NM_003042.4(SLC6A1):c.714+5G>A
|
rs770987659
|
0.00001
|
|
NM_003042.4(SLC6A1):c.715-3C>T
|
rs1002831448
|
0.00001
|
|
NM_003042.4(SLC6A1):c.72T>C (p.Asn24=)
|
rs774478277
|
0.00001
|
|
NM_003042.4(SLC6A1):c.787G>A (p.Gly263Arg)
|
rs1574906609
|
0.00001
|
|
NM_003042.4(SLC6A1):c.797A>G (p.Glu266Gly)
|
rs1027128426
|
0.00001
|
|
NM_003042.4(SLC6A1):c.798G>A (p.Glu266=)
|
rs1211147356
|
0.00001
|
|
NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)
|
rs1395387100
|
0.00001
|
|
NM_003042.4(SLC6A1):c.828C>T (p.Phe276=)
|
rs1176975543
|
0.00001
|
|
NM_003042.4(SLC6A1):c.829C>T (p.Arg277Cys)
|
rs377383740
|
0.00001
|
|
NM_003042.4(SLC6A1):c.850-18T>C
|
rs760273801
|
0.00001
|
|
NM_003042.4(SLC6A1):c.850-5T>C
|
rs1398769799
|
0.00001
|
|
NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)
|
rs1271404941
|
0.00001
|
|
NM_003042.4(SLC6A1):c.918C>T (p.Leu306=)
|
rs775332356
|
0.00001
|
|
NM_003042.4(SLC6A1):c.929A>G (p.Asn310Ser)
|
rs896013015
|
0.00001
|
|
NM_003042.4(SLC6A1):c.946G>A (p.Val316Ile)
|
rs1409813316
|
0.00001
|
|
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile)
|
rs1403165900
|
0.00001
|
|
NM_003042.4(SLC6A1):c.994A>G (p.Met332Val)
|
rs867226042
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1021C>T (p.Arg341Trp)
|
rs780990156
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1055T>G (p.Met352Arg)
|
rs1275349783
|
0.00001
|
|
NM_003060.4(SLC22A5):c.105C>T (p.Thr35=)
|
rs765461422
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1073A>C (p.Tyr358Ser)
|
rs1266953756
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1116C>G (p.Ile372Met)
|
rs753461448
|
0.00001
|
|
NM_003060.4(SLC22A5):c.111G>C (p.Leu37=)
|
rs762780354
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=)
|
rs202219455
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val)
|
rs746187344
|
0.00001
|
|
NM_003060.4(SLC22A5):c.113C>A (p.Ser38Tyr)
|
rs369354736
|
0.00001
|
|
NM_003060.4(SLC22A5):c.114C>T (p.Ser38=)
|
rs756867867
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1177C>T (p.Leu393=)
|
rs368514254
|
0.00001
|
|
NM_003060.4(SLC22A5):c.117C>T (p.Ser39=)
|
rs201427730
|
0.00001
|
|
NM_003060.4(SLC22A5):c.118G>A (p.Val40Met)
|
rs148657753
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1198C>T (p.Arg400Cys)
|
rs1249681027
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1202dup (p.Tyr401Ter)
|
rs121908887
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1219C>T (p.Leu407Phe)
|
rs754913053
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1227G>C (p.Leu409=)
|
rs1346191785
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1228G>A (p.Gly410Ser)
|
rs1331373451
|
0.00001
|
|
NM_003060.4(SLC22A5):c.122T>G (p.Phe41Cys)
|
rs1335556134
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1238T>G (p.Val413Gly)
|
rs1224278173
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1250dup (p.Met417fs)
|
rs781330134
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1251G>A (p.Met417Ile)
|
rs756473868
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1262C>T (p.Pro421Leu)
|
rs1436718402
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1267+14G>A
|
rs769114259
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1268-20T>A
|
rs1752733205
|
0.00001
|
|
NM_003060.4(SLC22A5):c.12C>G (p.Tyr4Ter)
|
rs72552722
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1310T>C (p.Phe437Ser)
|
rs1335183542
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1320G>A (p.Thr440=)
|
rs747285272
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1332C>T (p.Ser444=)
|
rs769918856
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1336G>T (p.Val446Phe)
|
rs72552733
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1340A>G (p.Tyr447Cys)
|
rs386134218
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met)
|
rs386134219
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1353C>T (p.Ala451=)
|
rs374662740
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys)
|
rs72552734
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1359G>A (p.Leu453=)
|
rs1168638815
|
0.00001
|
|
NM_003060.4(SLC22A5):c.135C>G (p.Thr45=)
|
rs202000855
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)
|
rs766555353
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
|
NM_003060.4(SLC22A5):c.137C>T (p.Pro46Leu)
|
rs377767445
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1394T>G (p.Val465Gly)
|
rs917270911
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1395C>G (p.Val465=)
|
rs781562637
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe)
|
rs386134222
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys)
|
rs749282641
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu)
|
rs386134223
|
0.00001
|
|
NM_003060.4(SLC22A5):c.144C>T (p.His48=)
|
rs745897099
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1450+10A>G
|
rs1487082253
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1450+7C>A
|
rs1223468160
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1451-17C>T
|
rs771588323
|
0.00001
|
|
NM_003060.4(SLC22A5):c.147C>T (p.Arg49=)
|
rs1461536917
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1483A>G (p.Met495Val)
|
rs1023956374
|
0.00001
|
|
NM_003060.4(SLC22A5):c.150C>T (p.Cys50=)
|
rs974348546
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1510A>G (p.Ile504Val)
|
rs1417574754
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1515C>T (p.Leu505=)
|
rs780129415
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)
|
rs1157198543
|
0.00001
|
|
NM_003060.4(SLC22A5):c.153G>A (p.Arg51=)
|
rs1330041441
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1540G>A (p.Gly514Ser)
|
rs551153027
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1545C>G (p.Thr515=)
|
rs1256876367
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1563T>C (p.Ile521=)
|
rs1325105843
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1578A>G (p.Arg526=)
|
rs1554088590
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1621A>T (p.Met541Leu)
|
rs758158685
|
0.00001
|
|
NM_003060.4(SLC22A5):c.163G>A (p.Ala55Thr)
|
rs1356287812
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1641A>C (p.Glu547Asp)
|
rs1485984674
|
0.00001
|
|
NM_003060.4(SLC22A5):c.1651A>G (p.Ile551Val)
|
rs745329092
|
0.00001
|
|
NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys)
|
rs1354240252
|
0.00001
|
|
NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)
|
rs1169005119
|
0.00001
|
|
NM_003060.4(SLC22A5):c.207G>A (p.Leu69=)
|
rs377767446
|
0.00001
|
|
NM_003060.4(SLC22A5):c.217G>C (p.Asp73His)
|
rs778137386
|
0.00001
|
|
NM_003060.4(SLC22A5):c.224G>C (p.Arg75Pro)
|
rs757711838
|
0.00001
|
|
NM_003060.4(SLC22A5):c.244C>A (p.Arg82Ser)
|
rs955061461
|
0.00001
|
|
NM_003060.4(SLC22A5):c.244C>T (p.Arg82Cys)
|
rs955061461
|
0.00001
|
|
NM_003060.4(SLC22A5):c.24C>A (p.Thr8=)
|
rs766678115
|
0.00001
|
|
NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)
|
rs761608940
|
0.00001
|
|
NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val)
|
rs753998904
|
0.00001
|
|
NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu)
|
rs759420042
|
0.00001
|
|
NM_003060.4(SLC22A5):c.298G>C (p.Gly100Arg)
|
rs779263168
|
0.00001
|
|
NM_003060.4(SLC22A5):c.300G>A (p.Gly100=)
|
rs552442289
|
0.00001
|
|
NM_003060.4(SLC22A5):c.303C>T (p.Arg101=)
|
rs1368157214
|
0.00001
|
|
NM_003060.4(SLC22A5):c.30C>T (p.Phe10=)
|
rs574313463
|
0.00001
|
|
NM_003060.4(SLC22A5):c.315G>C (p.Leu105=)
|
rs1012140520
|
0.00001
|
|
NM_003060.4(SLC22A5):c.318G>A (p.Gly106=)
|
rs1214969369
|
0.00001
|
|
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr)
|
rs727504159
|
0.00001
|
|
NM_003060.4(SLC22A5):c.349T>C (p.Trp117Arg)
|
rs398123692
|
0.00001
|
|
NM_003060.4(SLC22A5):c.363G>T (p.Gln121His)
|
rs758991830
|
0.00001
|
|
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)
|
rs762126547
|
0.00001
|
|
NM_003060.4(SLC22A5):c.382A>G (p.Ile128Val)
|
rs772405276
|
0.00001
|
|
NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys)
|
rs1321705165
|
0.00001
|
|
NM_003060.4(SLC22A5):c.393+10G>A
|
rs1365783263
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-10C>T
|
rs748687943
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
|
NM_003060.4(SLC22A5):c.394-2A>C
|
rs377724489
|
0.00001
|
|
NM_003060.4(SLC22A5):c.396G>A (p.Trp132Ter)
|
rs72552727
|
0.00001
|
|
NM_003060.4(SLC22A5):c.397A>C (p.Asn133His)
|
rs1268928609
|
0.00001
|
|
NM_003060.4(SLC22A5):c.399C>T (p.Asn133=)
|
rs1027119483
|
0.00001
|
|
NM_003060.4(SLC22A5):c.405G>A (p.Val135=)
|
rs777083211
|
0.00001
|
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
|
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys)
|
rs796052036
|
0.00001
|
|
NM_003060.4(SLC22A5):c.450C>T (p.Phe150=)
|
rs756089971
|
0.00001
|
|
NM_003060.4(SLC22A5):c.455G>A (p.Gly152Asp)
|
rs747821417
|
0.00001
|
|
NM_003060.4(SLC22A5):c.462G>A (p.Leu154=)
|
rs771808266
|
0.00001
|
|
NM_003060.4(SLC22A5):c.463T>C (p.Leu155=)
|
rs777136671
|
0.00001
|
|
NM_003060.4(SLC22A5):c.497+19G>A
|
rs764058694
|
0.00001
|
|
NM_003060.4(SLC22A5):c.497+9T>C
|
rs969798244
|
0.00001
|
|
NM_003060.4(SLC22A5):c.498-1G>C
|
rs747592919
|
0.00001
|
|
NM_003060.4(SLC22A5):c.498-4C>A
|
rs778593047
|
0.00001
|
|
NM_003060.4(SLC22A5):c.546C>T (p.Gly182=)
|
rs1329903175
|
0.00001
|
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
|
NM_003060.4(SLC22A5):c.569C>T (p.Ser190Leu)
|
rs766106506
|
0.00001
|
|
NM_003060.4(SLC22A5):c.583A>G (p.Met195Val)
|
rs1194966941
|
0.00001
|
|
NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu)
|
rs1322301830
|
0.00001
|
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
|
NM_003060.4(SLC22A5):c.637G>A (p.Ala213Thr)
|
rs749602236
|
0.00001
|
|
NM_003060.4(SLC22A5):c.63C>T (p.Ile21=)
|
rs769437903
|
0.00001
|
|
NM_003060.4(SLC22A5):c.652+1G>A
|
rs386134200
|
0.00001
|
|
NM_003060.4(SLC22A5):c.652+3A>G
|
rs774833531
|
0.00001
|
|
NM_003060.4(SLC22A5):c.677T>A (p.Val226Asp)
|
rs373199019
|
0.00001
|
|
NM_003060.4(SLC22A5):c.679C>T (p.Arg227Cys)
|
rs546902674
|
0.00001
|
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
|
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala)
|
rs188698686
|
0.00001
|
|
NM_003060.4(SLC22A5):c.717T>C (p.Tyr239=)
|
rs1370546808
|
0.00001
|
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
|
NM_003060.4(SLC22A5):c.747T>C (p.Phe249=)
|
rs746473075
|
0.00001
|
|
NM_003060.4(SLC22A5):c.763G>A (p.Asp255Asn)
|
rs774619135
|
0.00001
|
|
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn)
|
rs772578415
|
0.00001
|
|
NM_003060.4(SLC22A5):c.785C>T (p.Ala262Val)
|
rs752989096
|
0.00001
|
|
NM_003060.4(SLC22A5):c.786G>A (p.Ala262=)
|
rs758916243
|
0.00001
|
|
NM_003060.4(SLC22A5):c.792G>A (p.Thr264=)
|
rs771014732
|
0.00001
|
|
NM_003060.4(SLC22A5):c.797C>G (p.Pro266Arg)
|
rs538372785
|
0.00001
|
|
NM_003060.4(SLC22A5):c.801G>A (p.Gly267=)
|
rs554745191
|
0.00001
|
|
NM_003060.4(SLC22A5):c.806del (p.Leu269fs)
|
rs386134204
|
0.00001
|
|
NM_003060.4(SLC22A5):c.825-10G>A
|
rs766084888
|
0.00001
|
|
NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys)
|
rs386134207
|
0.00001
|
|
NM_003060.4(SLC22A5):c.839C>T (p.Ser280Phe)
|
rs386134208
|
0.00001
|
|
NM_003060.4(SLC22A5):c.845dup (p.Trp283fs)
|
rs1580888136
|
0.00001
|
|
NM_003060.4(SLC22A5):c.847T>C (p.Trp283Arg)
|
rs72552729
|
0.00001
|
|
NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe)
|
rs150278881
|
0.00001
|
|
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
|
NM_003060.4(SLC22A5):c.911A>G (p.Asn304Ser)
|
rs746559733
|
0.00001
|
|
NM_003060.4(SLC22A5):c.926C>T (p.Pro309Leu)
|
rs1252043783
|
0.00001
|
|
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser)
|
rs770408585
|
0.00001
|
|
NM_003060.4(SLC22A5):c.942C>T (p.Asp314=)
|
rs1752560559
|
0.00001
|
|
NM_003060.4(SLC22A5):c.944C>T (p.Pro315Leu)
|
rs200697217
|
0.00001
|
|
NM_003060.4(SLC22A5):c.945G>A (p.Pro315=)
|
rs764733247
|
0.00001
|
|
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys)
|
rs774792831
|
0.00001
|
|
NM_003060.4(SLC22A5):c.951+10_951+15del
|
rs769613982
|
0.00001
|
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
|
NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val)
|
rs761264590
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.108C>T (p.Pro36=)
|
rs768297819
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1137+12C>T
|
rs749404523
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1138-6C>T
|
rs755890443
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1185+4C>T
|
rs746106042
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1240A>G (p.Thr414Ala)
|
rs746859503
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1439G>A (p.Gly480Glu)
|
rs762708368
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.1521C>T (p.Asn507=)
|
rs757085430
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.16C>T (p.Pro6Ser)
|
rs1212781668
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.208G>A (p.Asp70Asn)
|
rs1319600530
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.337C>T (p.Arg113Trp)
|
rs142923662
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln)
|
rs371321697
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.453+20G>T
|
rs1406816149
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.501C>T (p.Ile167=)
|
rs754269597
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.512G>A (p.Arg171Gln)
|
rs767459105
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.531G>A (p.Ala177=)
|
rs138847454
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.593G>A (p.Arg198Gln)
|
rs752816518
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.659C>T (p.Ala220Val)
|
rs199643601
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=)
|
rs775591571
|
0.00001
|
|
NM_003748.4(ALDH4A1):c.945C>T (p.Cys315=)
|
rs774448725
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1012G>A (p.Gly338Ser)
|
rs755387204
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1053C>G (p.Ile351Met)
|
rs1384004540
|
0.00001
|
|
NM_003982.4(SLC7A7):c.105G>A (p.Lys35=)
|
rs753833842
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1096-7C>T
|
rs772027108
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1096-8G>A
|
rs1378166336
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1116C>G (p.Tyr372Ter)
|
rs773357652
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1117T>C (p.Leu373=)
|
rs769906633
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1125G>C (p.Val375=)
|
rs371346432
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1149C>T (p.Asn383=)
|
rs758810096
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1189A>G (p.Ile397Val)
|
rs756936473
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1246-8G>A
|
rs764143566
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1262C>T (p.Pro421Leu)
|
rs756903324
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1282A>C (p.Thr428Pro)
|
rs1219626541
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1329C>T (p.Ser443=)
|
rs1363447141
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1340T>C (p.Ile447Thr)
|
rs1459950013
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1356A>G (p.Ser452=)
|
rs1346185145
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1387del (p.Val463fs)
|
rs386833806
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1403G>A (p.Arg468Gln)
|
rs746907619
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1429+7C>T
|
rs552331172
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1430-8C>T
|
rs1310878284
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1451A>G (p.Gln484Arg)
|
rs773635994
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1452G>A (p.Gln484=)
|
rs2038526040
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1460G>A (p.Cys487Tyr)
|
rs755163036
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1497A>C (p.Gly499=)
|
rs1566438384
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1505T>C (p.Met502Thr)
|
rs762335275
|
0.00001
|
|
NM_003982.4(SLC7A7):c.1535A>G (p.Ter512=)
|
rs777446088
|
0.00001
|
|
NM_003982.4(SLC7A7):c.153C>T (p.Ile51=)
|
rs762189517
|
0.00001
|
|
NM_003982.4(SLC7A7):c.208G>C (p.Gly70Arg)
|
rs1195832434
|
0.00001
|
|
NM_003982.4(SLC7A7):c.291T>C (p.Ile97=)
|
rs1373571295
|
0.00001
|
|
NM_003982.4(SLC7A7):c.313G>A (p.Ala105Thr)
|
rs775943127
|
0.00001
|
|
NM_003982.4(SLC7A7):c.380T>C (p.Ile127Thr)
|
rs764284986
|
0.00001
|
|
NM_003982.4(SLC7A7):c.447G>A (p.Pro149=)
|
rs375485114
|
0.00001
|
|
NM_003982.4(SLC7A7):c.474C>T (p.Ser158=)
|
rs373825689
|
0.00001
|
|
NM_003982.4(SLC7A7):c.477C>T (p.Arg159=)
|
rs753120791
|
0.00001
|
|
NM_003982.4(SLC7A7):c.478C>T (p.Leu160=)
|
rs376853890
|
0.00001
|
|
NM_003982.4(SLC7A7):c.510C>T (p.Thr170=)
|
rs761380240
|
0.00001
|
|
NM_003982.4(SLC7A7):c.516T>C (p.Ile172=)
|
rs527568845
|
0.00001
|
|
NM_003982.4(SLC7A7):c.548T>C (p.Val183Ala)
|
rs771965858
|
0.00001
|
|
NM_003982.4(SLC7A7):c.583C>T (p.Leu195=)
|
rs775643218
|
0.00001
|
|
NM_003982.4(SLC7A7):c.585G>A (p.Leu195=)
|
rs768649205
|
0.00001
|
|
NM_003982.4(SLC7A7):c.588C>T (p.Ile196=)
|
rs747530058
|
0.00001
|
|
NM_003982.4(SLC7A7):c.58T>C (p.Leu20=)
|
rs1437964553
|
0.00001
|
|
NM_003982.4(SLC7A7):c.590C>T (p.Ala197Val)
|
rs780597284
|
0.00001
|
|
NM_003982.4(SLC7A7):c.618T>G (p.Leu206=)
|
rs2038686425
|
0.00001
|
|
NM_003982.4(SLC7A7):c.699C>T (p.Tyr233=)
|
rs767657396
|
0.00001
|
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
|
NM_003982.4(SLC7A7):c.732C>T (p.Thr244=)
|
rs758362364
|
0.00001
|
|
NM_003982.4(SLC7A7):c.740A>G (p.Tyr247Cys)
|
rs765105909
|
0.00001
|
|
NM_003982.4(SLC7A7):c.770+7A>G
|
rs774913676
|
0.00001
|
|
NM_003982.4(SLC7A7):c.771-5T>C
|
rs371954584
|
0.00001
|
|
NM_003982.4(SLC7A7):c.792C>G (p.Gly264=)
|
rs770260977
|
0.00001
|
|
NM_003982.4(SLC7A7):c.795C>T (p.Ile265=)
|
rs777140678
|
0.00001
|
|
NM_003982.4(SLC7A7):c.84G>A (p.Pro28=)
|
rs746630301
|
0.00001
|
|
NM_003982.4(SLC7A7):c.857A>G (p.Asp286Gly)
|
rs777555880
|
0.00001
|
|
NM_003982.4(SLC7A7):c.860T>G (p.Met287Arg)
|
rs755142027
|
0.00001
|
|
NM_003982.4(SLC7A7):c.864A>G (p.Arg288=)
|
rs1304389598
|
0.00001
|
|
NM_003982.4(SLC7A7):c.894+13dup
|
rs779202322
|
0.00001
|
|
NM_003982.4(SLC7A7):c.966T>C (p.Gly322=)
|
rs780862401
|
0.00001
|
|
NM_003982.4(SLC7A7):c.972C>G (p.Leu324=)
|
rs1239008031
|
0.00001
|
|
NM_003982.4(SLC7A7):c.998+9G>C
|
rs1350841635
|
0.00001
|
|
NM_004408.4(DNM1):c.1011C>T (p.Ala337=)
|
rs753714670
|
0.00001
|
|
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser)
|
rs1404767209
|
0.00001
|
|
NM_004408.4(DNM1):c.1053C>T (p.Ile351=)
|
rs1420306273
|
0.00001
|
|
NM_004408.4(DNM1):c.1098C>T (p.Phe366=)
|
rs532535557
|
0.00001
|
|
NM_004408.4(DNM1):c.1101C>T (p.His367=)
|
rs747430397
|
0.00001
|
|
NM_004408.4(DNM1):c.1116C>T (p.Phe372=)
|
rs367584321
|
0.00001
|
|
NM_004408.4(DNM1):c.1137T>C (p.Phe379=)
|
rs1835101654
|
0.00001
|
|
NM_004408.4(DNM1):c.1146G>A (p.Lys382=)
|
rs150617335
|
0.00001
|
|
NM_004408.4(DNM1):c.1155A>C (p.Arg385=)
|
rs140703430
|
0.00001
|
|
NM_004408.4(DNM1):c.1196+14C>T
|
rs372024347
|
0.00001
|
|
NM_004408.4(DNM1):c.1196+4C>T
|
rs1445161696
|
0.00001
|
|
NM_004408.4(DNM1):c.1197-4T>C
|
rs1004698189
|
0.00001
|
|
NM_004408.4(DNM1):c.1197-6G>A
|
rs767877912
|
0.00001
|
|
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met)
|
rs750618124
|
0.00001
|
|
NM_004408.4(DNM1):c.1262G>A (p.Arg421Gln)
|
rs769689269
|
0.00001
|
|
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu)
|
rs1373361613
|
0.00001
|
|
NM_004408.4(DNM1):c.1269G>A (p.Pro423=)
|
rs1436554330
|
0.00001
|
|
NM_004408.4(DNM1):c.1298C>T (p.Ser433Leu)
|
rs762000203
|
0.00001
|
|
NM_004408.4(DNM1):c.1330A>G (p.Lys444Glu)
|
rs756764400
|
0.00001
|
|
NM_004408.4(DNM1):c.1335+7C>T
|
rs201230726
|
0.00001
|
|
NM_004408.4(DNM1):c.1336-15C>T
|
rs764771425
|
0.00001
|
|
NM_004408.4(DNM1):c.1336-7T>C
|
rs550764968
|
0.00001
|
|
NM_004408.4(DNM1):c.1356A>G (p.Leu452=)
|
rs756954152
|
0.00001
|
|
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)
|
rs750296552
|
0.00001
|
|
NM_004408.4(DNM1):c.1359G>A (p.Arg453=)
|
rs968662562
|
0.00001
|
|
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys)
|
rs769485700
|
0.00001
|
|
NM_004408.4(DNM1):c.1409G>A (p.Arg470His)
|
rs763830358
|
0.00001
|
|
NM_004408.4(DNM1):c.1422+10G>A
|
rs375886288
|
0.00001
|
|
NM_004408.4(DNM1):c.1422+16C>T
|
rs766488967
|
0.00001
|
|
NM_004408.4(DNM1):c.1423-8C>A
|
rs555786484
|
0.00001
|
|
NM_004408.4(DNM1):c.1443C>T (p.Ile481=)
|
rs778321233
|
0.00001
|
|
NM_004408.4(DNM1):c.1494-10C>T
|
rs772807242
|
0.00001
|
|
NM_004408.4(DNM1):c.1494-15C>T
|
rs375232749
|
0.00001
|
|
NM_004408.4(DNM1):c.150T>C (p.Asn50=)
|
rs769600214
|
0.00001
|
|
NM_004408.4(DNM1):c.1524G>A (p.Lys508=)
|
rs1057523085
|
0.00001
|
|
NM_004408.4(DNM1):c.1545+6T>C
|
rs368249222
|
0.00001
|
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
|
NM_004408.4(DNM1):c.1671+11G>C
|
rs377034879
|
0.00001
|
|
NM_004408.4(DNM1):c.1743G>A (p.Ser581=)
|
rs776254391
|
0.00001
|
|
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala)
|
rs1295777740
|
0.00001
|
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
|
NM_004408.4(DNM1):c.1894-5C>G
|
rs1836928538
|
0.00001
|
|
NM_004408.4(DNM1):c.1906-6T>C
|
rs138961089
|
0.00001
|
|
NM_004408.4(DNM1):c.1932C>T (p.Ser644=)
|
rs750934085
|
0.00001
|
|
NM_004408.4(DNM1):c.1956C>T (p.Asp652=)
|
rs1564353077
|
0.00001
|
|
NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)
|
rs199575353
|
0.00001
|
|
NM_004408.4(DNM1):c.2070T>A (p.Ile690=)
|
rs1019671226
|
0.00001
|
|
NM_004408.4(DNM1):c.2076+17A>G
|
rs1361466672
|
0.00001
|
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
|
NM_004408.4(DNM1):c.2113C>T (p.Leu705=)
|
rs752228958
|
0.00001
|
|
NM_004408.4(DNM1):c.2163G>A (p.Gln721=)
|
rs146678077
|
0.00001
|
|
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys)
|
rs1414107946
|
0.00001
|
|
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu)
|
rs745835138
|
0.00001
|
|
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser)
|
rs551214260
|
0.00001
|
|
NM_004408.4(DNM1):c.2310C>T (p.Ala770=)
|
rs1224582228
|
0.00001
|
|
NM_004408.4(DNM1):c.2318+10C>T
|
rs755903943
|
0.00001
|
|
NM_004408.4(DNM1):c.235+10C>T
|
rs372579464
|
0.00001
|
|
NM_004408.4(DNM1):c.2360C>T (p.Ala787Val)
|
rs1363606775
|
0.00001
|
|
NM_004408.4(DNM1):c.2361C>T (p.Ala787=)
|
rs1041513039
|
0.00001
|
|
NM_004408.4(DNM1):c.2379C>T (p.Pro793=)
|
rs1215135225
|
0.00001
|
|
NM_004408.4(DNM1):c.2418G>T (p.Gly806=)
|
rs1413872976
|
0.00001
|
|
NM_004408.4(DNM1):c.2423C>T (p.Ala808Val)
|
rs1474835177
|
0.00001
|
|
NM_004408.4(DNM1):c.2435C>A (p.Ala812Glu)
|
rs1353174747
|
0.00001
|
|
NM_004408.4(DNM1):c.2455C>T (p.Pro819Ser)
|
rs1131692001
|
0.00001
|
|
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile)
|
rs1006999214
|
0.00001
|
|
NM_004408.4(DNM1):c.2536C>T (p.Arg846Ter)
|
rs752575279
|
0.00001
|
|
NM_004408.4(DNM1):c.2561G>A (p.Arg854His)
|
rs781345149
|
0.00001
|
|
NM_004408.4(DNM1):c.267G>T (p.Lys89Asn)
|
rs1229779896
|
0.00001
|
|
NM_004408.4(DNM1):c.292C>G (p.Arg98Gly)
|
rs1206732749
|
0.00001
|
|
NM_004408.4(DNM1):c.354G>A (p.Val118=)
|
rs1357577359
|
0.00001
|
|
NM_004408.4(DNM1):c.358A>G (p.Ile120Val)
|
rs1057520197
|
0.00001
|
|
NM_004408.4(DNM1):c.384C>T (p.His128=)
|
rs535527521
|
0.00001
|
|
NM_004408.4(DNM1):c.386-17C>T
|
rs766023182
|
0.00001
|
|
NM_004408.4(DNM1):c.3G>T (p.Met1Ile)
|
rs1401701364
|
0.00001
|
|
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln)
|
rs763288862
|
0.00001
|
|
NM_004408.4(DNM1):c.474C>T (p.Asp158=)
|
rs568247101
|
0.00001
|
|
NM_004408.4(DNM1):c.528C>T (p.Pro176=)
|
rs146242842
|
0.00001
|
|
NM_004408.4(DNM1):c.543G>A (p.Leu181=)
|
rs759118746
|
0.00001
|
|
NM_004408.4(DNM1):c.584C>T (p.Pro195Leu)
|
rs780514615
|
0.00001
|
|
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys)
|
rs1485891906
|
0.00001
|
|
NM_004408.4(DNM1):c.603C>T (p.Ile201=)
|
rs1484030185
|
0.00001
|
|
NM_004408.4(DNM1):c.624C>T (p.Asp208=)
|
rs1395270062
|
0.00001
|
|
NM_004408.4(DNM1):c.633C>T (p.Asp211=)
|
rs1043525791
|
0.00001
|
|
NM_004408.4(DNM1):c.650G>A (p.Arg217His)
|
rs753953686
|
0.00001
|
|
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)
|
rs766504829
|
0.00001
|
|
NM_004408.4(DNM1):c.720G>A (p.Lys240=)
|
rs969868074
|
0.00001
|
|
NM_004408.4(DNM1):c.748G>A (p.Ala250Thr)
|
rs1422655933
|
0.00001
|
|
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
|
rs1431736054
|
0.00001
|
|
NM_004408.4(DNM1):c.804G>A (p.Leu268=)
|
rs771201307
|
0.00001
|
|
NM_004408.4(DNM1):c.822G>A (p.Thr274=)
|
rs765410948
|
0.00001
|
|
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys)
|
rs752917058
|
0.00001
|
|
NM_004408.4(DNM1):c.853C>T (p.Leu285=)
|
rs546034278
|
0.00001
|
|
NM_004408.4(DNM1):c.882G>A (p.Pro294=)
|
rs559572430
|
0.00001
|
|
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln)
|
rs1321080189
|
0.00001
|
|
NM_004408.4(DNM1):c.920T>C (p.Ile307Thr)
|
rs1052613908
|
0.00001
|
|
NM_004408.4(DNM1):c.924G>A (p.Glu308=)
|
rs1364961903
|
0.00001
|
|
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp)
|
rs1214581005
|
0.00001
|
|
NM_004408.4(DNM1):c.990G>T (p.Leu330=)
|
rs761236543
|
0.00001
|
|
NM_004408.4(DNM1):c.992+18C>T
|
rs1320762709
|
0.00001
|
|
NM_004408.4(DNM1):c.992+19C>T
|
rs1375346310
|
0.00001
|
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
|
NM_004453.4(ETFDH):c.1005T>G (p.Ser335Arg)
|
rs1452265763
|
0.00001
|
|
NM_004453.4(ETFDH):c.1036C>T (p.His346Tyr)
|
rs749456492
|
0.00001
|
|
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val)
|
rs776428695
|
0.00001
|
|
NM_004453.4(ETFDH):c.1083C>T (p.Tyr361=)
|
rs765063539
|
0.00001
|
|
NM_004453.4(ETFDH):c.108T>G (p.Thr36=)
|
rs140731939
|
0.00001
|
|
NM_004453.4(ETFDH):c.1107T>C (p.Gly369=)
|
rs781782240
|
0.00001
|
|
NM_004453.4(ETFDH):c.1116+10C>T
|
rs1417738324
|
0.00001
|
|
NM_004453.4(ETFDH):c.1117-4T>C
|
rs940742984
|
0.00001
|
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
|
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)
|
rs773668457
|
0.00001
|
|
NM_004453.4(ETFDH):c.1233A>C (p.Ala411=)
|
rs772194053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1255A>T (p.Thr419Ser)
|
rs574791445
|
0.00001
|
|
NM_004453.4(ETFDH):c.1285+1G>A
|
rs767046886
|
0.00001
|
|
NM_004453.4(ETFDH):c.1286-16A>G
|
rs1163678059
|
0.00001
|
|
NM_004453.4(ETFDH):c.1286-8A>T
|
rs1054882235
|
0.00001
|
|
NM_004453.4(ETFDH):c.1290C>G (p.Leu430=)
|
rs770765347
|
0.00001
|
|
NM_004453.4(ETFDH):c.1293T>C (p.His431=)
|
rs745559526
|
0.00001
|
|
NM_004453.4(ETFDH):c.12G>A (p.Pro4=)
|
rs373776053
|
0.00001
|
|
NM_004453.4(ETFDH):c.1326A>T (p.Ser442=)
|
rs1188056766
|
0.00001
|
|
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala)
|
rs760234838
|
0.00001
|
|
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg)
|
rs1156517377
|
0.00001
|
|
NM_004453.4(ETFDH):c.1334G>T (p.Trp445Leu)
|
rs763536356
|
0.00001
|
|
NM_004453.4(ETFDH):c.1344A>G (p.Leu448=)
|
rs765652548
|
0.00001
|
|
NM_004453.4(ETFDH):c.1345T>C (p.Tyr449His)
|
rs750799644
|
0.00001
|
|
NM_004453.4(ETFDH):c.1368G>A (p.Pro456=)
|
rs781354386
|
0.00001
|
|
NM_004453.4(ETFDH):c.1369T>C (p.Ser457Pro)
|
rs1404615636
|
0.00001
|
|
NM_004453.4(ETFDH):c.1377C>T (p.His459=)
|
rs1243627865
|
0.00001
|
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
|
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg)
|
rs1174882036
|
0.00001
|
|
NM_004453.4(ETFDH):c.1432T>C (p.Leu478=)
|
rs1774615019
|
0.00001
|
|
NM_004453.4(ETFDH):c.1457T>C (p.Leu486Pro)
|
rs751839607
|
0.00001
|
|
NM_004453.4(ETFDH):c.1468+8A>G
|
rs755214741
|
0.00001
|
|
NM_004453.4(ETFDH):c.148C>T (p.Pro50Ser)
|
rs937646249
|
0.00001
|
|
NM_004453.4(ETFDH):c.1506C>T (p.Cys502=)
|
rs1405831535
|
0.00001
|
|
NM_004453.4(ETFDH):c.1512T>C (p.Pro504=)
|
rs940960964
|
0.00001
|
|
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp)
|
rs187248590
|
0.00001
|
|
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=)
|
rs754795292
|
0.00001
|
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
|
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=)
|
rs1408118210
|
0.00001
|
|
NM_004453.4(ETFDH):c.1665G>A (p.Gly555=)
|
rs1305282556
|
0.00001
|
|
NM_004453.4(ETFDH):c.1668C>T (p.Pro556=)
|
rs747312700
|
0.00001
|
|
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys)
|
rs1279728239
|
0.00001
|
|
NM_004453.4(ETFDH):c.1676G>A (p.Arg559Gln)
|
rs768961719
|
0.00001
|
|
NM_004453.4(ETFDH):c.1690+1G>T
|
rs917285990
|
0.00001
|
|
NM_004453.4(ETFDH):c.169T>C (p.Trp57Arg)
|
rs1773829495
|
0.00001
|
|
NM_004453.4(ETFDH):c.1734G>A (p.Arg578=)
|
rs761505388
|
0.00001
|
|
NM_004453.4(ETFDH):c.1758T>C (p.Cys586=)
|
rs755342205
|
0.00001
|
|
NM_004453.4(ETFDH):c.176-2A>T
|
rs1485038306
|
0.00001
|
|
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn)
|
rs1165102742
|
0.00001
|
|
NM_004453.4(ETFDH):c.1813G>T (p.Val605Leu)
|
rs1774702955
|
0.00001
|
|
NM_004453.4(ETFDH):c.1823G>A (p.Gly608Asp)
|
rs1303489545
|
0.00001
|
|
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln)
|
rs765742496
|
0.00001
|
|
NM_004453.4(ETFDH):c.219A>T (p.Ile73=)
|
rs1297866480
|
0.00001
|
|
NM_004453.4(ETFDH):c.256C>T (p.Arg86Cys)
|
rs1242099513
|
0.00001
|
|
NM_004453.4(ETFDH):c.257G>A (p.Arg86His)
|
rs777655131
|
0.00001
|
|
NM_004453.4(ETFDH):c.267G>A (p.Gln89=)
|
rs1773880095
|
0.00001
|
|
NM_004453.4(ETFDH):c.27C>T (p.Ser9=)
|
rs746903871
|
0.00001
|
|
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)
|
rs376630579
|
0.00001
|
|
NM_004453.4(ETFDH):c.34+7G>A
|
rs1436016069
|
0.00001
|
|
NM_004453.4(ETFDH):c.342C>T (p.Leu114=)
|
rs770193214
|
0.00001
|
|
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro)
|
rs1172887273
|
0.00001
|
|
NM_004453.4(ETFDH):c.350C>A (p.Ala117Asp)
|
rs1773884764
|
0.00001
|
|
NM_004453.4(ETFDH):c.363A>G (p.Pro121=)
|
rs1773885365
|
0.00001
|
|
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val)
|
rs199899494
|
0.00001
|
|
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
|
rs1319398122
|
0.00001
|
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
|
NM_004453.4(ETFDH):c.414T>G (p.Leu138=)
|
rs751256504
|
0.00001
|
|
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
|
rs749702132
|
0.00001
|
|
NM_004453.4(ETFDH):c.472G>A (p.Val158Met)
|
rs774614480
|
0.00001
|
|
NM_004453.4(ETFDH):c.507T>C (p.His169=)
|
rs772286040
|
0.00001
|
|
NM_004453.4(ETFDH):c.552C>T (p.Gly184=)
|
rs752262349
|
0.00001
|
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
|
NM_004453.4(ETFDH):c.654T>C (p.Asp218=)
|
rs1241684347
|
0.00001
|
|
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)
|
rs141407224
|
0.00001
|
|
NM_004453.4(ETFDH):c.689C>T (p.Thr230Ile)
|
rs999532162
|
0.00001
|
|
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr)
|
rs1397900640
|
0.00001
|
|
NM_004453.4(ETFDH):c.731T>C (p.Phe244Ser)
|
rs1448673327
|
0.00001
|
|
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr)
|
rs371260517
|
0.00001
|
|
NM_004453.4(ETFDH):c.738A>G (p.Glu246=)
|
rs1212314821
|
0.00001
|
|
NM_004453.4(ETFDH):c.768A>G (p.Leu256=)
|
rs1481843055
|
0.00001
|
|
NM_004453.4(ETFDH):c.777G>A (p.Lys259=)
|
rs1365101415
|
0.00001
|
|
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser)
|
rs537038850
|
0.00001
|
|
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg)
|
rs763541530
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-19T>G
|
rs775057755
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-5T>C
|
rs768022965
|
0.00001
|
|
NM_004453.4(ETFDH):c.832-8T>A
|
rs912481593
|
0.00001
|
|
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg)
|
rs754082348
|
0.00001
|
|
NM_004453.4(ETFDH):c.84A>G (p.Leu28=)
|
rs1053865022
|
0.00001
|
|
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter)
|
rs1235904433
|
0.00001
|
|
NM_004453.4(ETFDH):c.870A>G (p.Arg290=)
|
rs752487495
|
0.00001
|
|
NM_004453.4(ETFDH):c.881C>G (p.Thr294Ser)
|
rs748958949
|
0.00001
|
|
NM_004453.4(ETFDH):c.937A>G (p.Asn313Asp)
|
rs762031780
|
0.00001
|
|
NM_004453.4(ETFDH):c.940G>C (p.Glu314Gln)
|
rs201579588
|
0.00001
|
|
NM_004453.4(ETFDH):c.950C>T (p.Pro317Leu)
|
rs1394204740
|
0.00001
|
|
NM_004453.4(ETFDH):c.969T>G (p.Leu323=)
|
rs753462513
|
0.00001
|
|
NM_004483.5(GCSH):c.102G>A (p.Gly34=)
|
rs941391744
|
0.00001
|
|
NM_004483.5(GCSH):c.115C>T (p.Arg39Cys)
|
rs1245942364
|
0.00001
|
|
NM_004483.5(GCSH):c.133C>G (p.Pro45Ala)
|
rs1972502072
|
0.00001
|
|
NM_004483.5(GCSH):c.153T>C (p.Arg51=)
|
rs142243166
|
0.00001
|
|
NM_004483.5(GCSH):c.19C>T (p.Arg7Trp)
|
rs976425490
|
0.00001
|
|
NM_004483.5(GCSH):c.231A>C (p.Glu77Asp)
|
rs1236344907
|
0.00001
|
|
NM_004483.5(GCSH):c.329G>A (p.Ser110Asn)
|
rs779721507
|
0.00001
|
|
NM_004483.5(GCSH):c.364G>A (p.Glu122Lys)
|
rs753037667
|
0.00001
|
|
NM_004483.5(GCSH):c.400G>A (p.Val134Ile)
|
rs766903708
|
0.00001
|
|
NM_004483.5(GCSH):c.413G>A (p.Cys138Tyr)
|
rs540817676
|
0.00001
|
|
NM_004483.5(GCSH):c.425-8G>C
|
rs770923322
|
0.00001
|
|
NM_004483.5(GCSH):c.44C>T (p.Thr15Ile)
|
rs1339562877
|
0.00001
|
|
NM_004483.5(GCSH):c.49C>T (p.Arg17Cys)
|
rs967101315
|
0.00001
|
|
NM_004483.5(GCSH):c.512T>C (p.Ile171Thr)
|
rs770835365
|
0.00001
|
|
NM_004483.5(GCSH):c.75C>T (p.Pro25=)
|
rs958918692
|
0.00001
|
|
NM_004577.4(PSPH):c.289C>T (p.Arg97Cys)
|
rs754344374
|
0.00001
|
|
NM_004577.4(PSPH):c.386A>G (p.Asn129Ser)
|
rs771251320
|
0.00001
|
|
NM_004577.4(PSPH):c.414C>T (p.Tyr138=)
|
rs756554508
|
0.00001
|
|
NM_004577.4(PSPH):c.446C>T (p.Thr149Met)
|
rs374024099
|
0.00001
|
|
NM_004577.4(PSPH):c.467G>A (p.Gly156Asp)
|
rs750270446
|
0.00001
|
|
NM_004577.4(PSPH):c.506T>C (p.Phe169Ser)
|
rs1253579440
|
0.00001
|
|
NM_004577.4(PSPH):c.542C>T (p.Ala181Val)
|
rs527489732
|
0.00001
|
|
NM_004577.4(PSPH):c.575C>T (p.Ala192Val)
|
rs779259191
|
0.00001
|
|
NM_004577.4(PSPH):c.596A>T (p.Asn199Ile)
|
rs753682900
|
0.00001
|
|
NM_004577.4(PSPH):c.609A>G (p.Gln203=)
|
rs752178752
|
0.00001
|
|
NM_004577.4(PSPH):c.615C>T (p.Val205=)
|
rs1335846307
|
0.00001
|
|
NM_004577.4(PSPH):c.647T>G (p.Phe216Cys)
|
rs935820820
|
0.00001
|
|
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu)
|
rs762561354
|
0.00001
|
|
NM_004937.3(CTNS):c.1014C>T (p.Leu338=)
|
rs766085355
|
0.00001
|
|
NM_004937.3(CTNS):c.1020C>G (p.Val340=)
|
rs759909683
|
0.00001
|
|
NM_004937.3(CTNS):c.102G>A (p.Leu34=)
|
rs2075871217
|
0.00001
|
|
NM_004937.3(CTNS):c.1080A>G (p.Arg360=)
|
rs1244220520
|
0.00001
|
|
NM_004937.3(CTNS):c.1089T>C (p.Tyr363=)
|
rs371237992
|
0.00001
|
|
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)
|
rs745744798
|
0.00001
|
|
NM_004937.3(CTNS):c.141-6C>T
|
rs777132924
|
0.00001
|
|
NM_004937.3(CTNS):c.207C>T (p.Ile69=)
|
rs765304748
|
0.00001
|
|
NM_004937.3(CTNS):c.225+9C>A
|
rs779694812
|
0.00001
|
|
NM_004937.3(CTNS):c.270A>T (p.Thr90=)
|
rs754247532
|
0.00001
|
|
NM_004937.3(CTNS):c.333G>A (p.Pro111=)
|
rs755169805
|
0.00001
|
|
NM_004937.3(CTNS):c.341G>A (p.Arg114His)
|
rs559362332
|
0.00001
|
|
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)
|
rs771990787
|
0.00001
|
|
NM_004937.3(CTNS):c.363C>T (p.Ser121=)
|
rs746463725
|
0.00001
|
|
NM_004937.3(CTNS):c.367A>G (p.Ile123Val)
|
rs776104111
|
0.00001
|
|
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)
|
rs1009882965
|
0.00001
|
|
NM_004937.3(CTNS):c.39C>T (p.Pro13=)
|
rs370068809
|
0.00001
|
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
|
NM_004937.3(CTNS):c.442A>T (p.Met148Leu)
|
rs779895948
|
0.00001
|
|
NM_004937.3(CTNS):c.462-10C>A
|
rs765481486
|
0.00001
|
|
NM_004937.3(CTNS):c.462-10C>T
|
rs765481486
|
0.00001
|
|
NM_004937.3(CTNS):c.525A>G (p.Val175=)
|
rs1040347769
|
0.00001
|
|
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser)
|
rs752632797
|
0.00001
|
|
NM_004937.3(CTNS):c.588C>T (p.Asn196=)
|
rs757955245
|
0.00001
|
|
NM_004937.3(CTNS):c.597C>T (p.Asn199=)
|
rs1325554729
|
0.00001
|
|
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)
|
rs768188337
|
0.00001
|
|
NM_004937.3(CTNS):c.609C>T (p.Ser203=)
|
rs200273011
|
0.00001
|
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
|
NM_004937.3(CTNS):c.61+7T>C
|
rs762701585
|
0.00001
|
|
NM_004937.3(CTNS):c.612C>T (p.Asn204=)
|
rs200170842
|
0.00001
|
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
|
NM_004937.3(CTNS):c.615C>T (p.Asp205=)
|
rs756137690
|
0.00001
|
|
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr)
|
rs768600603
|
0.00001
|
|
NM_004937.3(CTNS):c.646dup (p.Thr216fs)
|
rs893207601
|
0.00001
|
|
NM_004937.3(CTNS):c.660C>T (p.Ile220=)
|
rs369227591
|
0.00001
|
|
NM_004937.3(CTNS):c.668del (p.Cys223fs)
|
rs770145986
|
0.00001
|
|
NM_004937.3(CTNS):c.681+1G>A
|
rs749317721
|
0.00001
|
|
NM_004937.3(CTNS):c.681+7C>A
|
rs757360314
|
0.00001
|
|
NM_004937.3(CTNS):c.681+9A>T
|
rs1800531
|
0.00001
|
|
NM_004937.3(CTNS):c.682-8G>A
|
rs759116689
|
0.00001
|
|
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)
|
rs764538705
|
0.00001
|
|
NM_004937.3(CTNS):c.714C>T (p.Ile238=)
|
rs372330647
|
0.00001
|
|
NM_004937.3(CTNS):c.720C>T (p.Phe240=)
|
rs771577860
|
0.00001
|
|
NM_004937.3(CTNS):c.729C>T (p.Leu243=)
|
rs762142619
|
0.00001
|
|
NM_004937.3(CTNS):c.732G>A (p.Ala244=)
|
rs199518474
|
0.00001
|
|
NM_004937.3(CTNS):c.744A>G (p.Ala248=)
|
rs767702551
|
0.00001
|
|
NM_004937.3(CTNS):c.768A>G (p.Ala256=)
|
rs746564292
|
0.00001
|
|
NM_004937.3(CTNS):c.783G>A (p.Thr261=)
|
rs377053292
|
0.00001
|
|
NM_004937.3(CTNS):c.789G>A (p.Leu263=)
|
rs773808648
|
0.00001
|
|
NM_004937.3(CTNS):c.792G>A (p.Gln264=)
|
rs148662747
|
0.00001
|
|
NM_004937.3(CTNS):c.822C>T (p.Leu274=)
|
rs150773117
|
0.00001
|
|
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)
|
rs752869556
|
0.00001
|
|
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)
|
rs759921102
|
0.00001
|
|
NM_004937.3(CTNS):c.855C>G (p.Ala285=)
|
rs1425996808
|
0.00001
|
|
NM_004937.3(CTNS):c.879C>T (p.Ser293=)
|
rs767558679
|
0.00001
|
|
NM_004937.3(CTNS):c.885G>A (p.Glu295=)
|
rs752243433
|
0.00001
|
|
NM_004937.3(CTNS):c.897T>C (p.Ile299=)
|
rs199824920
|
0.00001
|
|
NM_004937.3(CTNS):c.903C>T (p.Asn301=)
|
rs757595884
|
0.00001
|
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
|
NM_004937.3(CTNS):c.966C>T (p.Asn322=)
|
rs767301567
|
0.00001
|
|
NM_004937.3(CTNS):c.970+14C>T
|
rs756853653
|
0.00001
|
|
NM_004937.3(CTNS):c.971-8G>A
|
rs777822023
|
0.00001
|
|
NM_004937.3(CTNS):c.981G>A (p.Thr327=)
|
rs779967932
|
0.00001
|
|
NM_004937.3(CTNS):c.990C>T (p.Phe330=)
|
rs544777200
|
0.00001
|
|
NM_004974.4(KCNA2):c.1014G>C (p.Gly338=)
|
rs975996921
|
0.00001
|
|
NM_004974.4(KCNA2):c.1108G>A (p.Val370Ile)
|
rs756214647
|
0.00001
|
|
NM_004974.4(KCNA2):c.1113C>T (p.Ser371=)
|
rs1022053211
|
0.00001
|
|
NM_004974.4(KCNA2):c.1154T>C (p.Ile385Thr)
|
rs1197586006
|
0.00001
|
|
NM_004974.4(KCNA2):c.1256G>A (p.Arg419Gln)
|
rs1296710118
|
0.00001
|
|
NM_004974.4(KCNA2):c.1281C>T (p.Ala427=)
|
rs769892809
|
0.00001
|
|
NM_004974.4(KCNA2):c.1385A>G (p.Gln462Arg)
|
rs767147366
|
0.00001
|
|
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)
|
rs1243868138
|
0.00001
|
|
NM_004974.4(KCNA2):c.144A>G (p.Leu48=)
|
rs369373711
|
0.00001
|
|
NM_004974.4(KCNA2):c.1466A>G (p.Tyr489Cys)
|
rs149776127
|
0.00001
|
|
NM_004974.4(KCNA2):c.156C>T (p.Ala52=)
|
rs1444396267
|
0.00001
|
|
NM_004974.4(KCNA2):c.194G>A (p.Arg65Gln)
|
rs1649516324
|
0.00001
|
|
NM_004974.4(KCNA2):c.234C>T (p.Phe78=)
|
rs1384622440
|
0.00001
|
|
NM_004974.4(KCNA2):c.23C>T (p.Pro8Leu)
|
rs1487522107
|
0.00001
|
|
NM_004974.4(KCNA2):c.273C>T (p.Tyr91=)
|
rs750174299
|
0.00001
|
|
NM_004974.4(KCNA2):c.366G>A (p.Ala122=)
|
rs768027755
|
0.00001
|
|
NM_004974.4(KCNA2):c.397A>G (p.Ile133Val)
|
rs759722211
|
0.00001
|
|
NM_004974.4(KCNA2):c.465C>T (p.Tyr155=)
|
rs752785338
|
0.00001
|
|
NM_004974.4(KCNA2):c.511A>G (p.Met171Val)
|
rs773468235
|
0.00001
|
|
NM_004974.4(KCNA2):c.532G>A (p.Val178Ile)
|
rs762594923
|
0.00001
|
|
NM_004974.4(KCNA2):c.552A>G (p.Thr184=)
|
rs1649493531
|
0.00001
|
|
NM_004974.4(KCNA2):c.555G>A (p.Leu185=)
|
rs553243804
|
0.00001
|
|
NM_004974.4(KCNA2):c.565C>T (p.Arg189Trp)
|
rs770611476
|
0.00001
|
|
NM_004974.4(KCNA2):c.601A>T (p.Thr201Ser)
|
rs1016641998
|
0.00001
|
|
NM_004974.4(KCNA2):c.65C>G (p.Thr22Ser)
|
rs1403692006
|
0.00001
|
|
NM_004974.4(KCNA2):c.745G>A (p.Gly249Ser)
|
rs746926057
|
0.00001
|
|
NM_004974.4(KCNA2):c.792C>A (p.Ile264=)
|
rs200005187
|
0.00001
|
|
NM_004974.4(KCNA2):c.862A>G (p.Met288Val)
|
rs1486839913
|
0.00001
|
|
NM_004974.4(KCNA2):c.885C>T (p.Val295=)
|
rs749777424
|
0.00001
|
|
NM_004974.4(KCNA2):c.891G>T (p.Arg297=)
|
rs538914802
|
0.00001
|
|
NM_004974.4(KCNA2):c.909G>A (p.Arg303=)
|
rs759220639
|
0.00001
|
|
NM_004974.4(KCNA2):c.915C>T (p.Phe305=)
|
rs776140578
|
0.00001
|
|
NM_004974.4(KCNA2):c.9G>A (p.Val3=)
|
rs1217542162
|
0.00001
|
|
NM_004975.4(KCNB1):c.1023C>T (p.Gly341=)
|
rs763113494
|
0.00001
|
|
NM_004975.4(KCNB1):c.1047C>A (p.Val349=)
|
rs773495969
|
0.00001
|
|
NM_004975.4(KCNB1):c.1098C>T (p.Ala366=)
|
rs777002170
|
0.00001
|
|
NM_004975.4(KCNB1):c.1116C>G (p.Thr372=)
|
rs1347667767
|
0.00001
|
|
NM_004975.4(KCNB1):c.1128T>A (p.Thr376=)
|
rs375581882
|
0.00001
|
|
NM_004975.4(KCNB1):c.117G>A (p.Gly39=)
|
rs368376649
|
0.00001
|
|
NM_004975.4(KCNB1):c.1294C>T (p.Arg432Trp)
|
rs752596402
|
0.00001
|
|
NM_004975.4(KCNB1):c.1299A>G (p.Arg433=)
|
rs758700383
|
0.00001
|
|
NM_004975.4(KCNB1):c.1332C>T (p.Ser444=)
|
rs1178240064
|
0.00001
|
|
NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly)
|
rs760931963
|
0.00001
|
|
NM_004975.4(KCNB1):c.1410G>A (p.Glu470=)
|
rs1214032172
|
0.00001
|
|
NM_004975.4(KCNB1):c.1444C>A (p.His482Asn)
|
rs1171133807
|
0.00001
|
|
NM_004975.4(KCNB1):c.1506G>T (p.Lys502Asn)
|
rs761247010
|
0.00001
|
|
NM_004975.4(KCNB1):c.1529G>A (p.Gly510Glu)
|
rs767889610
|
0.00001
|
|
NM_004975.4(KCNB1):c.1550C>T (p.Ser517Leu)
|
rs770677266
|
0.00001
|
|
NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu)
|
rs1984227856
|
0.00001
|
|
NM_004975.4(KCNB1):c.1649C>T (p.Ser550Leu)
|
rs374024543
|
0.00001
|
|
NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val)
|
rs761452916
|
0.00001
|
|
NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys)
|
rs947355756
|
0.00001
|
|
NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys)
|
rs1355278265
|
0.00001
|
|
NM_004975.4(KCNB1):c.1778G>C (p.Ser593Thr)
|
rs1415361663
|
0.00001
|
|
NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val)
|
rs770069345
|
0.00001
|
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
|
NM_004975.4(KCNB1):c.1937C>A (p.Ala646Asp)
|
rs1247080453
|
0.00001
|
|
NM_004975.4(KCNB1):c.1950T>C (p.Ser650=)
|
rs767412426
|
0.00001
|
|
NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe)
|
rs1276898684
|
0.00001
|
|
NM_004975.4(KCNB1):c.1962C>T (p.Ile654=)
|
rs1226209770
|
0.00001
|
|
NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)
|
rs769948178
|
0.00001
|
|
NM_004975.4(KCNB1):c.1968C>T (p.Ser656=)
|
rs751330439
|
0.00001
|
|
NM_004975.4(KCNB1):c.2049A>C (p.Pro683=)
|
rs751308084
|
0.00001
|
|
NM_004975.4(KCNB1):c.204G>A (p.Ser68=)
|
rs1202077661
|
0.00001
|
|
NM_004975.4(KCNB1):c.2055C>A (p.Leu685=)
|
rs200849612
|
0.00001
|
|
NM_004975.4(KCNB1):c.2083C>A (p.Leu695Ile)
|
rs775433680
|
0.00001
|
|
NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn)
|
rs1984201256
|
0.00001
|
|
NM_004975.4(KCNB1):c.2127G>A (p.Glu709=)
|
rs750280554
|
0.00001
|
|
NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser)
|
rs778296598
|
0.00001
|
|
NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser)
|
rs1214997887
|
0.00001
|
|
NM_004975.4(KCNB1):c.2201C>A (p.Pro734His)
|
rs780940515
|
0.00001
|
|
NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala)
|
rs267605983
|
0.00001
|
|
NM_004975.4(KCNB1):c.2320C>A (p.Pro774Thr)
|
rs748597382
|
0.00001
|
|
NM_004975.4(KCNB1):c.2322C>T (p.Pro774=)
|
rs1471605520
|
0.00001
|
|
NM_004975.4(KCNB1):c.2323C>G (p.Pro775Ala)
|
rs142461221
|
0.00001
|
|
NM_004975.4(KCNB1):c.2345C>T (p.Thr782Ile)
|
rs751639377
|
0.00001
|
|
NM_004975.4(KCNB1):c.2352G>A (p.Pro784=)
|
rs763162952
|
0.00001
|
|
NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala)
|
rs1262864745
|
0.00001
|
|
NM_004975.4(KCNB1):c.2411C>T (p.Thr804Ile)
|
rs1049874069
|
0.00001
|
|
NM_004975.4(KCNB1):c.2425T>C (p.Leu809=)
|
rs745432739
|
0.00001
|
|
NM_004975.4(KCNB1):c.2457A>G (p.Ala819=)
|
rs755210446
|
0.00001
|
|
NM_004975.4(KCNB1):c.2471G>A (p.Gly824Asp)
|
rs780469478
|
0.00001
|
|
NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys)
|
rs758964585
|
0.00001
|
|
NM_004975.4(KCNB1):c.2525G>A (p.Arg842His)
|
rs185422169
|
0.00001
|
|
NM_004975.4(KCNB1):c.2531T>C (p.Leu844Ser)
|
rs1314041160
|
0.00001
|
|
NM_004975.4(KCNB1):c.27C>A (p.Gly9=)
|
rs760648829
|
0.00001
|
|
NM_004975.4(KCNB1):c.29C>T (p.Ser10Phe)
|
rs902335211
|
0.00001
|
|
NM_004975.4(KCNB1):c.300C>G (p.Arg100=)
|
rs760237871
|
0.00001
|
|
NM_004975.4(KCNB1):c.411C>T (p.Tyr137=)
|
rs747090668
|
0.00001
|
|
NM_004975.4(KCNB1):c.492T>C (p.Asp164=)
|
rs1392771017
|
0.00001
|
|
NM_004975.4(KCNB1):c.4C>T (p.Pro2Ser)
|
rs1054441474
|
0.00001
|
|
NM_004975.4(KCNB1):c.54C>T (p.Pro18=)
|
rs1403444378
|
0.00001
|
|
NM_004975.4(KCNB1):c.567+3G>A
|
rs752873604
|
0.00001
|
|
NM_004975.4(KCNB1):c.660C>T (p.Phe220=)
|
rs751017425
|
0.00001
|
|
NM_004975.4(KCNB1):c.702C>T (p.Ala234=)
|
rs753634361
|
0.00001
|
|
NM_004975.4(KCNB1):c.703G>A (p.Val235Met)
|
rs1315753296
|
0.00001
|
|
NM_004975.4(KCNB1):c.711C>T (p.Ile237=)
|
rs1020438851
|
0.00001
|
|
NM_004975.4(KCNB1):c.738G>A (p.Leu246=)
|
rs1336511502
|
0.00001
|
|
NM_004975.4(KCNB1):c.81G>A (p.Lys27=)
|
rs910155179
|
0.00001
|
|
NM_004975.4(KCNB1):c.84G>C (p.Ala28=)
|
rs748425302
|
0.00001
|
|
NM_004975.4(KCNB1):c.856G>A (p.Val286Met)
|
rs1194019938
|
0.00001
|
|
NM_004975.4(KCNB1):c.882C>T (p.Arg294=)
|
rs757868422
|
0.00001
|
|
NM_004975.4(KCNB1):c.900C>A (p.Arg300=)
|
rs1057523982
|
0.00001
|
|
NM_004975.4(KCNB1):c.903C>T (p.Ile301=)
|
rs1441724609
|
0.00001
|
|
NM_004975.4(KCNB1):c.954G>A (p.Gln318=)
|
rs368624252
|
0.00001
|
|
NM_004975.4(KCNB1):c.974G>A (p.Arg325Gln)
|
rs759765009
|
0.00001
|
|
NM_004975.4(KCNB1):c.984C>T (p.Tyr328=)
|
rs1179351306
|
0.00001
|
|
NM_004975.4(KCNB1):c.99C>A (p.Val33=)
|
rs932309335
|
0.00001
|
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
|
NM_005050.4(ABCD4):c.1028+17C>T
|
rs1290816055
|
0.00001
|
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
|
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
|
rs754280972
|
0.00001
|
|
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
|
rs201586690
|
0.00001
|
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
|
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=)
|
rs760206135
|
0.00001
|
|
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=)
|
rs780349078
|
0.00001
|
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
|
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=)
|
rs747273884
|
0.00001
|
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
|
NM_005050.4(ABCD4):c.158-7C>A
|
rs557930358
|
0.00001
|
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
|
NM_005050.4(ABCD4):c.1753-4G>A
|
rs554458015
|
0.00001
|
|
NM_005050.4(ABCD4):c.285+19T>C
|
rs369159114
|
0.00001
|
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
|
NM_005050.4(ABCD4):c.360C>T (p.His120=)
|
rs1050702853
|
0.00001
|
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
|
NM_005050.4(ABCD4):c.542+1G>T
|
rs769364566
|
0.00001
|
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
|
NM_005050.4(ABCD4):c.594C>T (p.Thr198=)
|
rs202070697
|
0.00001
|
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
|
NM_005050.4(ABCD4):c.669-7C>T
|
rs371152472
|
0.00001
|
|
NM_005050.4(ABCD4):c.6G>A (p.Ala2=)
|
rs1486429349
|
0.00001
|
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
|
NM_005050.4(ABCD4):c.9C>G (p.Val3=)
|
rs72542410
|
0.00001
|
|
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu)
|
rs552066337
|
0.00001
|
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
|
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
|
rs780956934
|
0.00001
|
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
|
NM_005271.5(GLUD1):c.168G>A (p.Ala56=)
|
rs930453131
|
0.00001
|
|
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser)
|
rs1401755923
|
0.00001
|
|
NM_005271.5(GLUD1):c.527-12C>T
|
rs780201965
|
0.00001
|
|
NM_005271.5(GLUD1):c.594G>A (p.Leu198=)
|
rs781638449
|
0.00001
|
|
NM_005271.5(GLUD1):c.630A>G (p.Ala210=)
|
rs368203417
|
0.00001
|
|
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
|
rs761375132
|
0.00001
|
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
|
NM_005327.7(HADH):c.696G>A (p.Arg232=)
|
rs747476251
|
0.00001
|
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
|
NM_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
|
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
|
rs782558280
|
0.00001
|
|
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
|
rs782774910
|
0.00001
|
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
|
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
|
rs375223452
|
0.00001
|
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
|
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
|
rs782473277
|
0.00001
|
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
|
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
|
rs371594842
|
0.00001
|
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1016+19G>T
|
rs781641917
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1082A>G (p.Gln361Arg)
|
rs1286357569
|
0.00001
|
|
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)
|
rs200675569
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg)
|
rs752626288
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu)
|
rs766097440
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1187+7A>T
|
rs769416687
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1271G>A (p.Arg424Gln)
|
rs748252959
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1405C>G (p.Gln469Glu)
|
rs754218759
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1421-17T>C
|
rs755145375
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1451G>T (p.Ser484Ile)
|
rs763005476
|
0.00001
|
|
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)
|
rs137852639
|
0.00001
|
|
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met)
|
rs28937320
|
0.00001
|
|
NM_005518.4(HMGCS2):c.387A>G (p.Val129=)
|
rs750709310
|
0.00001
|
|
NM_005518.4(HMGCS2):c.559+1G>A
|
rs587603096
|
0.00001
|
|
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=)
|
rs370124069
|
0.00001
|
|
NM_005518.4(HMGCS2):c.714G>A (p.Val238=)
|
rs1419921025
|
0.00001
|
|
NM_005518.4(HMGCS2):c.743C>T (p.Ser248Leu)
|
rs768912442
|
0.00001
|
|
NM_005518.4(HMGCS2):c.879C>T (p.Asp293=)
|
rs761787433
|
0.00001
|
|
NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala)
|
rs202069145
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1008C>T (p.Asn336=)
|
rs782239150
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1016+13G>A
|
rs782016796
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1017-10C>T
|
rs1557045124
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1030C>T (p.Leu344=)
|
rs1295886890
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1053C>G (p.Thr351=)
|
rs1557045138
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1071C>T (p.Phe357=)
|
rs782782179
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1089G>A (p.Leu363=)
|
rs1557045154
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg)
|
rs1557045159
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1143G>A (p.Gly381=)
|
rs782514670
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=)
|
rs1394306160
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1172G>A (p.Arg391Gln)
|
rs782676733
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1196C>T (p.Ala399Val)
|
rs1557045287
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1197C>T (p.Ala399=)
|
rs1557045289
|
0.00001
|
|
NM_005629.4(SLC6A8):c.127C>T (p.Pro43Ser)
|
rs1185738875
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=)
|
rs782667574
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1302G>A (p.Pro434=)
|
rs1463546168
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1310A>C (p.Tyr437Ser)
|
rs1557045400
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1315T>G (p.Phe439Val)
|
rs782206415
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1318C>T (p.Arg440Cys)
|
rs782326194
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His)
|
rs781925657
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1344C>A (p.Ala448=)
|
rs781971678
|
0.00001
|
|
NM_005629.4(SLC6A8):c.136C>T (p.Arg46Cys)
|
rs1557043834
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1371C>T (p.Ile457=)
|
rs3179358
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1393-5C>G
|
rs782213020
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1398G>A (p.Gly466=)
|
rs782030860
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=)
|
rs782696303
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1405G>A (p.Val469Ile)
|
rs1557045470
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1407C>T (p.Val469=)
|
rs782779876
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1431G>A (p.Ser477=)
|
rs1060453
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr)
|
rs1557045503
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1495+19C>T
|
rs1284437374
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1496-10C>T
|
rs1557045522
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1496-20C>T
|
rs1557045519
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1496-7G>A
|
rs781814962
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His)
|
rs1453689278
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1511T>C (p.Met504Thr)
|
rs1557045552
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile)
|
rs782325571
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg)
|
rs782000377
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1542A>G (p.Arg514=)
|
rs1557045561
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1575C>T (p.Phe525=)
|
rs2091477642
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1596+10G>A
|
rs1557045600
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1596+8C>T
|
rs782769501
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1597-14A>G
|
rs1557045640
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1597-4G>A
|
rs1312663828
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1602C>G (p.Ile534Met)
|
rs782582776
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1605C>T (p.Phe535=)
|
rs782183518
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1636G>A (p.Val546Ile)
|
rs1557045675
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1650C>G (p.Thr550=)
|
rs781811330
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=)
|
rs2314070
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1767+17G>T
|
rs372958689
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1767+9C>A
|
rs782076464
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1768-10T>C
|
rs1459295373
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1768C>T (p.Arg590Cys)
|
rs2314078
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=)
|
rs782481058
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1827G>A (p.Gln609=)
|
rs782185667
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1848G>A (p.Leu616=)
|
rs1173097153
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1888G>A (p.Val630Met)
|
rs373570632
|
0.00001
|
|
NM_005629.4(SLC6A8):c.1907G>A (p.Ter636=)
|
rs1557045889
|
0.00001
|
|
NM_005629.4(SLC6A8):c.201C>T (p.Gly67=)
|
rs782020168
|
0.00001
|
|
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=)
|
rs782128137
|
0.00001
|
|
NM_005629.4(SLC6A8):c.231C>T (p.Arg77=)
|
rs781820776
|
0.00001
|
|
NM_005629.4(SLC6A8):c.263-13C>T
|
rs1557044161
|
0.00001
|
|
NM_005629.4(SLC6A8):c.263-9C>A
|
rs1557044163
|
0.00001
|
|
NM_005629.4(SLC6A8):c.291C>T (p.Ile97=)
|
rs1557044172
|
0.00001
|
|
NM_005629.4(SLC6A8):c.297G>A (p.Leu99=)
|
rs782391316
|
0.00001
|
|
NM_005629.4(SLC6A8):c.333G>C (p.Ser111=)
|
rs781916894
|
0.00001
|
|
NM_005629.4(SLC6A8):c.375C>T (p.Asn125=)
|
rs1169070771
|
0.00001
|
|
NM_005629.4(SLC6A8):c.395-9C>T
|
rs782540675
|
0.00001
|
|
NM_005629.4(SLC6A8):c.405C>T (p.Tyr135=)
|
rs782249346
|
0.00001
|
|
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=)
|
rs782593568
|
0.00001
|
|
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser)
|
rs782174461
|
0.00001
|
|
NM_005629.4(SLC6A8):c.486C>T (p.Ser162=)
|
rs1414869177
|
0.00001
|
|
NM_005629.4(SLC6A8):c.522C>T (p.His174=)
|
rs1557044433
|
0.00001
|
|
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser)
|
rs199937648
|
0.00001
|
|
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=)
|
rs1221310274
|
0.00001
|
|
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn)
|
rs1261794545
|
0.00001
|
|
NM_005629.4(SLC6A8):c.552C>A (p.Ile184=)
|
rs1557044439
|
0.00001
|
|
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His)
|
rs372601430
|
0.00001
|
|
NM_005629.4(SLC6A8):c.579C>T (p.Ala193=)
|
rs782164730
|
0.00001
|
|
NM_005629.4(SLC6A8):c.620G>A (p.Arg207Gln)
|
rs1175883803
|
0.00001
|
|
NM_005629.4(SLC6A8):c.627T>C (p.Pro209=)
|
rs1057521539
|
0.00001
|
|
NM_005629.4(SLC6A8):c.644+20G>A
|
rs782635587
|
0.00001
|
|
NM_005629.4(SLC6A8):c.678G>A (p.Glu226=)
|
rs782524198
|
0.00001
|
|
NM_005629.4(SLC6A8):c.682C>T (p.Pro228Ser)
|
rs781848986
|
0.00001
|
|
NM_005629.4(SLC6A8):c.687G>A (p.Gly229=)
|
rs1557044561
|
0.00001
|
|
NM_005629.4(SLC6A8):c.708C>T (p.Thr236=)
|
rs782489930
|
0.00001
|
|
NM_005629.4(SLC6A8):c.709C>T (p.Leu237Phe)
|
rs782587269
|
0.00001
|
|
NM_005629.4(SLC6A8):c.718C>T (p.Leu240=)
|
rs2091458962
|
0.00001
|
|
NM_005629.4(SLC6A8):c.71C>T (p.Ala24Val)
|
rs2091436513
|
0.00001
|
|
NM_005629.4(SLC6A8):c.768C>T (p.Ser256=)
|
rs1177686940
|
0.00001
|
|
NM_005629.4(SLC6A8):c.778-7C>T
|
rs782613166
|
0.00001
|
|
NM_005629.4(SLC6A8):c.786C>T (p.Tyr262=)
|
rs1557044940
|
0.00001
|
|
NM_005629.4(SLC6A8):c.823C>T (p.Leu275=)
|
rs1557044951
|
0.00001
|
|
NM_005629.4(SLC6A8):c.896A>C (p.Lys299Thr)
|
rs782767368
|
0.00001
|
|
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val)
|
rs782598816
|
0.00001
|
|
NM_005629.4(SLC6A8):c.913-13G>T
|
rs1176497805
|
0.00001
|
|
NM_005629.4(SLC6A8):c.913-8T>C
|
rs1557045039
|
0.00001
|
|
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=)
|
rs371516458
|
0.00001
|
|
NM_005629.4(SLC6A8):c.960C>T (p.Gly320=)
|
rs1603216822
|
0.00001
|
|
NM_005629.4(SLC6A8):c.99G>A (p.Lys33=)
|
rs782436399
|
0.00001
|
|
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=)
|
rs767003668
|
0.00001
|
|
NM_005881.4(BCKDK):c.10G>C (p.Ala4Pro)
|
rs775430762
|
0.00001
|
|
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=)
|
rs111551851
|
0.00001
|
|
NM_005881.4(BCKDK):c.1196G>A (p.Arg399Gln)
|
rs766922526
|
0.00001
|
|
NM_005881.4(BCKDK):c.120G>A (p.Val40=)
|
rs933735430
|
0.00001
|
|
NM_005881.4(BCKDK):c.15G>C (p.Ser5=)
|
rs753378449
|
0.00001
|
|
NM_005881.4(BCKDK):c.372C>T (p.His124=)
|
rs148112682
|
0.00001
|
|
NM_005881.4(BCKDK):c.563A>G (p.Tyr188Cys)
|
rs761322791
|
0.00001
|
|
NM_005881.4(BCKDK):c.66A>T (p.Gly22=)
|
rs775340971
|
0.00001
|
|
NM_005881.4(BCKDK):c.717-5C>T
|
rs1291981908
|
0.00001
|
|
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val)
|
rs762482788
|
0.00001
|
|
NM_005881.4(BCKDK):c.917A>G (p.Asp306Gly)
|
rs200253972
|
0.00001
|
|
NM_005957.5(MTHFR):c.1002G>A (p.Lys334=)
|
rs147727428
|
0.00001
|
|
NM_005957.5(MTHFR):c.1013T>C (p.Met338Thr)
|
rs368321176
|
0.00001
|
|
NM_005957.5(MTHFR):c.1014G>A (p.Met338Ile)
|
rs766683363
|
0.00001
|
|
NM_005957.5(MTHFR):c.1027C>T (p.Pro343Ser)
|
rs762663885
|
0.00001
|
|
NM_005957.5(MTHFR):c.1034G>A (p.Arg345His)
|
rs753278299
|
0.00001
|
|
NM_005957.5(MTHFR):c.1062C>T (p.His354=)
|
rs776606131
|
0.00001
|
|
NM_005957.5(MTHFR):c.1069C>T (p.Arg357Cys)
|
rs779993607
|
0.00001
|
|
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter)
|
rs377443637
|
0.00001
|
|
NM_005957.5(MTHFR):c.1088G>A (p.Arg363His)
|
rs786204023
|
0.00001
|
|
NM_005957.5(MTHFR):c.1158C>T (p.Asn386=)
|
rs764444752
|
0.00001
|
|
NM_005957.5(MTHFR):c.1167-2del
|
rs780014899
|
0.00001
|
|
NM_005957.5(MTHFR):c.1182C>A (p.Ser394=)
|
rs1394785767
|
0.00001
|
|
NM_005957.5(MTHFR):c.1230C>T (p.Ser410=)
|
rs748977409
|
0.00001
|
|
NM_005957.5(MTHFR):c.123G>T (p.Arg41=)
|
rs1465286858
|
0.00001
|
|
NM_005957.5(MTHFR):c.1251G>A (p.Leu417=)
|
rs1448262865
|
0.00001
|
|
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys)
|
rs200688214
|
0.00001
|
|
NM_005957.5(MTHFR):c.1304_1305del (p.Phe435fs)
|
rs756018487
|
0.00001
|
|
NM_005957.5(MTHFR):c.1308T>C (p.Val436=)
|
rs373524607
|
0.00001
|
|
NM_005957.5(MTHFR):c.1348-11G>A
|
rs201696223
|
0.00001
|
|
NM_005957.5(MTHFR):c.1356C>T (p.Cys452=)
|
rs1379967274
|
0.00001
|
|
NM_005957.5(MTHFR):c.1371T>C (p.Asp457=)
|
rs1428673436
|
0.00001
|
|
NM_005957.5(MTHFR):c.1383G>A (p.Ala461=)
|
rs199517455
|
0.00001
|
|
NM_005957.5(MTHFR):c.1449C>T (p.Asn483=)
|
rs1644188320
|
0.00001
|
|
NM_005957.5(MTHFR):c.1531-5C>T
|
rs563840479
|
0.00001
|
|
NM_005957.5(MTHFR):c.1531-9C>G
|
rs1433996363
|
0.00001
|
|
NM_005957.5(MTHFR):c.1539A>G (p.Leu513=)
|
rs1454380592
|
0.00001
|
|
NM_005957.5(MTHFR):c.1566G>A (p.Ala522=)
|
rs539932473
|
0.00001
|
|
NM_005957.5(MTHFR):c.157T>C (p.Leu53=)
|
rs1205350004
|
0.00001
|
|
NM_005957.5(MTHFR):c.1596C>T (p.Tyr532=)
|
rs776430173
|
0.00001
|
|
NM_005957.5(MTHFR):c.1622T>C (p.Val541Ala)
|
rs779726227
|
0.00001
|
|
NM_005957.5(MTHFR):c.1632+2T>G
|
rs749765738
|
0.00001
|
|
NM_005957.5(MTHFR):c.1633-8C>A
|
rs1347437811
|
0.00001
|
|
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=)
|
rs764655005
|
0.00001
|
|
NM_005957.5(MTHFR):c.1667C>T (p.Pro556Leu)
|
rs747712448
|
0.00001
|
|
NM_005957.5(MTHFR):c.1668G>A (p.Pro556=)
|
rs778486116
|
0.00001
|
|
NM_005957.5(MTHFR):c.1731C>T (p.Pro577=)
|
rs926145376
|
0.00001
|
|
NM_005957.5(MTHFR):c.1748G>A (p.Trp583Ter)
|
rs1314085200
|
0.00001
|
|
NM_005957.5(MTHFR):c.1753-18G>A
|
rs777661576
|
0.00001
|
|
NM_005957.5(MTHFR):c.1755C>T (p.Asp585=)
|
rs375119199
|
0.00001
|
|
NM_005957.5(MTHFR):c.1779G>A (p.Glu593=)
|
rs372169679
|
0.00001
|
|
NM_005957.5(MTHFR):c.177G>T (p.Trp59Cys)
|
rs767789270
|
0.00001
|
|
NM_005957.5(MTHFR):c.1812G>A (p.Pro604=)
|
rs1407988165
|
0.00001
|
|
NM_005957.5(MTHFR):c.1839C>T (p.His613=)
|
rs199730437
|
0.00001
|
|
NM_005957.5(MTHFR):c.1887C>T (p.Asp629=)
|
rs780005836
|
0.00001
|
|
NM_005957.5(MTHFR):c.1968A>G (p.Pro656=)
|
rs774321998
|
0.00001
|
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
|
NM_005957.5(MTHFR):c.198T>A (p.Pro66=)
|
rs1300486433
|
0.00001
|
|
NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly)
|
rs763539350
|
0.00001
|
|
NM_005957.5(MTHFR):c.237-10C>T
|
rs367693626
|
0.00001
|
|
NM_005957.5(MTHFR):c.248T>C (p.Met83Thr)
|
rs1426036757
|
0.00001
|
|
NM_005957.5(MTHFR):c.282C>T (p.Thr94=)
|
rs143347952
|
0.00001
|
|
NM_005957.5(MTHFR):c.294A>T (p.Ala98=)
|
rs1265447449
|
0.00001
|
|
NM_005957.5(MTHFR):c.321C>T (p.Thr107=)
|
rs769916813
|
0.00001
|
|
NM_005957.5(MTHFR):c.382A>G (p.Met128Val)
|
rs202095816
|
0.00001
|
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
|
NM_005957.5(MTHFR):c.423T>C (p.His141=)
|
rs1339869041
|
0.00001
|
|
NM_005957.5(MTHFR):c.469C>T (p.Arg157Trp)
|
rs776195746
|
0.00001
|
|
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=)
|
rs941382680
|
0.00001
|
|
NM_005957.5(MTHFR):c.534G>A (p.Leu178=)
|
rs746368113
|
0.00001
|
|
NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln)
|
rs574132670
|
0.00001
|
|
NM_005957.5(MTHFR):c.654G>A (p.Val218=)
|
rs756691180
|
0.00001
|
|
NM_005957.5(MTHFR):c.660G>A (p.Ala220=)
|
rs141060174
|
0.00001
|
|
NM_005957.5(MTHFR):c.666C>T (p.Ala222=)
|
rs776956662
|
0.00001
|
|
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)
|
rs748571395
|
0.00001
|
|
NM_005957.5(MTHFR):c.69T>C (p.Ser23=)
|
rs757868254
|
0.00001
|
|
NM_005957.5(MTHFR):c.735C>T (p.Asp245=)
|
rs941214983
|
0.00001
|
|
NM_005957.5(MTHFR):c.765G>A (p.Gly255=)
|
rs770611205
|
0.00001
|
|
NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn)
|
rs373398993
|
0.00001
|
|
NM_005957.5(MTHFR):c.789C>T (p.His263=)
|
rs774637461
|
0.00001
|
|
NM_005957.5(MTHFR):c.797G>A (p.Arg266Gln)
|
rs571238208
|
0.00001
|
|
NM_005957.5(MTHFR):c.846C>T (p.Asp282=)
|
rs1451895576
|
0.00001
|
|
NM_005957.5(MTHFR):c.957C>T (p.His319=)
|
rs763699944
|
0.00001
|
|
NM_005957.5(MTHFR):c.966C>T (p.Thr322=)
|
rs138748774
|
0.00001
|
|
NM_005957.5(MTHFR):c.968T>C (p.Leu323Pro)
|
rs121434297
|
0.00001
|
|
NM_005957.5(MTHFR):c.969C>T (p.Leu323=)
|
rs769659626
|
0.00001
|
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00001
|
|
NM_005957.5(MTHFR):c.997C>T (p.Leu333=)
|
rs1318966127
|
0.00001
|
|
NM_005957.5(MTHFR):c.9C>T (p.Asn3=)
|
rs773463208
|
0.00001
|
|
NM_006623.4(PHGDH):c.1017G>A (p.Leu339=)
|
rs768115742
|
0.00001
|
|
NM_006623.4(PHGDH):c.1024C>T (p.Leu342=)
|
rs1416033860
|
0.00001
|
|
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter)
|
rs769256568
|
0.00001
|
|
NM_006623.4(PHGDH):c.1041T>G (p.Ala347=)
|
rs1374696914
|
0.00001
|
|
NM_006623.4(PHGDH):c.1078+20G>T
|
rs988452433
|
0.00001
|
|
NM_006623.4(PHGDH):c.1079-7T>C
|
rs766319430
|
0.00001
|
|
NM_006623.4(PHGDH):c.1079-8G>A
|
rs1180990036
|
0.00001
|
|
NM_006623.4(PHGDH):c.111C>T (p.Ser37=)
|
rs1270606502
|
0.00001
|
|
NM_006623.4(PHGDH):c.1132C>T (p.Leu378Phe)
|
rs1047310984
|
0.00001
|
|
NM_006623.4(PHGDH):c.1143G>C (p.Glu381Asp)
|
rs774132406
|
0.00001
|
|
NM_006623.4(PHGDH):c.1151A>G (p.Lys384Arg)
|
rs1299589464
|
0.00001
|
|
NM_006623.4(PHGDH):c.1179T>C (p.Ala393=)
|
rs754034829
|
0.00001
|
|
NM_006623.4(PHGDH):c.1193A>G (p.Lys398Arg)
|
rs765542839
|
0.00001
|
|
NM_006623.4(PHGDH):c.1194A>G (p.Lys398=)
|
rs747965439
|
0.00001
|
|
NM_006623.4(PHGDH):c.119A>G (p.Glu40Gly)
|
rs778630047
|
0.00001
|
|
NM_006623.4(PHGDH):c.1209+4C>T
|
rs199611972
|
0.00001
|
|
NM_006623.4(PHGDH):c.1218C>T (p.Thr406=)
|
rs771737948
|
0.00001
|
|
NM_006623.4(PHGDH):c.1227C>T (p.Ser409=)
|
rs768582720
|
0.00001
|
|
NM_006623.4(PHGDH):c.1245G>A (p.Glu415=)
|
rs769982653
|
0.00001
|
|
NM_006623.4(PHGDH):c.1273G>A (p.Val425Met)
|
rs121907988
|
0.00001
|
|
NM_006623.4(PHGDH):c.1290C>T (p.Ala430=)
|
rs1393433949
|
0.00001
|
|
NM_006623.4(PHGDH):c.129G>A (p.Ala43=)
|
rs587623477
|
0.00001
|
|
NM_006623.4(PHGDH):c.1335G>T (p.Leu445=)
|
rs768496348
|
0.00001
|
|
NM_006623.4(PHGDH):c.135G>T (p.Leu45=)
|
rs1352826557
|
0.00001
|
|
NM_006623.4(PHGDH):c.1415C>T (p.Thr472Ile)
|
rs966613179
|
0.00001
|
|
NM_006623.4(PHGDH):c.1429A>G (p.Met477Val)
|
rs1249140637
|
0.00001
|
|
NM_006623.4(PHGDH):c.1434G>A (p.Leu478=)
|
rs1420781632
|
0.00001
|
|
NM_006623.4(PHGDH):c.1447+13C>T
|
rs143612626
|
0.00001
|
|
NM_006623.4(PHGDH):c.1450C>T (p.Leu484Phe)
|
rs200693896
|
0.00001
|
|
NM_006623.4(PHGDH):c.1461G>A (p.Glu487=)
|
rs1005068896
|
0.00001
|
|
NM_006623.4(PHGDH):c.1500G>C (p.Val500=)
|
rs755921813
|
0.00001
|
|
NM_006623.4(PHGDH):c.1534T>G (p.Ser512Ala)
|
rs375098288
|
0.00001
|
|
NM_006623.4(PHGDH):c.1595A>G (p.His532Arg)
|
rs959684288
|
0.00001
|
|
NM_006623.4(PHGDH):c.160C>T (p.Arg54Cys)
|
rs779687118
|
0.00001
|
|
NM_006623.4(PHGDH):c.162C>T (p.Arg54=)
|
rs754900737
|
0.00001
|
|
NM_006623.4(PHGDH):c.180C>T (p.Thr60=)
|
rs769991971
|
0.00001
|
|
NM_006623.4(PHGDH):c.195C>T (p.Asn65=)
|
rs771208719
|
0.00001
|
|
NM_006623.4(PHGDH):c.202G>A (p.Glu68Lys)
|
rs774538219
|
0.00001
|
|
NM_006623.4(PHGDH):c.21G>C (p.Arg7=)
|
rs1650717107
|
0.00001
|
|
NM_006623.4(PHGDH):c.225G>A (p.Arg75=)
|
rs1441422663
|
0.00001
|
|
NM_006623.4(PHGDH):c.22A>T (p.Lys8Ter)
|
rs1650717188
|
0.00001
|
|
NM_006623.4(PHGDH):c.25G>C (p.Val9Leu)
|
rs199784256
|
0.00001
|
|
NM_006623.4(PHGDH):c.290+17G>A
|
rs375876858
|
0.00001
|
|
NM_006623.4(PHGDH):c.290+18C>T
|
rs779206688
|
0.00001
|
|
NM_006623.4(PHGDH):c.291-8A>G
|
rs775356901
|
0.00001
|
|
NM_006623.4(PHGDH):c.306C>T (p.Asn102=)
|
rs761693145
|
0.00001
|
|
NM_006623.4(PHGDH):c.353C>T (p.Ala118Val)
|
rs780272429
|
0.00001
|
|
NM_006623.4(PHGDH):c.357-10A>G
|
rs773131387
|
0.00001
|
|
NM_006623.4(PHGDH):c.357-1G>A
|
rs766427173
|
0.00001
|
|
NM_006623.4(PHGDH):c.357-8C>T
|
rs762922421
|
0.00001
|
|
NM_006623.4(PHGDH):c.366C>G (p.Pro122=)
|
rs1210498938
|
0.00001
|
|
NM_006623.4(PHGDH):c.487C>T (p.Arg163Trp)
|
rs772067625
|
0.00001
|
|
NM_006623.4(PHGDH):c.48C>T (p.Asp16=)
|
rs765678440
|
0.00001
|
|
NM_006623.4(PHGDH):c.496T>C (p.Ser166Pro)
|
rs149631480
|
0.00001
|
|
NM_006623.4(PHGDH):c.526C>G (p.Pro176Ala)
|
rs1031257536
|
0.00001
|
|
NM_006623.4(PHGDH):c.534T>C (p.Ile178=)
|
rs1467975689
|
0.00001
|
|
NM_006623.4(PHGDH):c.548C>T (p.Ser183Leu)
|
rs376632509
|
0.00001
|
|
NM_006623.4(PHGDH):c.54C>T (p.Cys18=)
|
rs1236966373
|
0.00001
|
|
NM_006623.4(PHGDH):c.550G>A (p.Ala184Thr)
|
rs956791237
|
0.00001
|
|
NM_006623.4(PHGDH):c.566A>C (p.Gln189Pro)
|
rs750124525
|
0.00001
|
|
NM_006623.4(PHGDH):c.571C>T (p.Leu191=)
|
rs988162080
|
0.00001
|
|
NM_006623.4(PHGDH):c.582G>A (p.Glu194=)
|
rs751522281
|
0.00001
|
|
NM_006623.4(PHGDH):c.597C>T (p.Leu199=)
|
rs1337925565
|
0.00001
|
|
NM_006623.4(PHGDH):c.634T>G (p.Ser212Ala)
|
rs374083753
|
0.00001
|
|
NM_006623.4(PHGDH):c.639G>A (p.Thr213=)
|
rs1489385483
|
0.00001
|
|
NM_006623.4(PHGDH):c.643+7G>A
|
rs943894952
|
0.00001
|
|
NM_006623.4(PHGDH):c.67T>C (p.Leu23=)
|
rs1650719894
|
0.00001
|
|
NM_006623.4(PHGDH):c.684G>A (p.Gly228=)
|
rs745471026
|
0.00001
|
|
NM_006623.4(PHGDH):c.707G>A (p.Arg236His)
|
rs776544484
|
0.00001
|
|
NM_006623.4(PHGDH):c.70C>T (p.Gln24Ter)
|
rs1418800829
|
0.00001
|
|
NM_006623.4(PHGDH):c.732C>T (p.Ala244=)
|
rs767968310
|
0.00001
|
|
NM_006623.4(PHGDH):c.758A>G (p.Gln253Arg)
|
rs1026407182
|
0.00001
|
|
NM_006623.4(PHGDH):c.75T>C (p.Asp25=)
|
rs752195785
|
0.00001
|
|
NM_006623.4(PHGDH):c.765C>T (p.Ala255=)
|
rs138939987
|
0.00001
|
|
NM_006623.4(PHGDH):c.774A>G (p.Ala258=)
|
rs587668968
|
0.00001
|
|
NM_006623.4(PHGDH):c.786T>C (p.Phe262=)
|
rs1221851702
|
0.00001
|
|
NM_006623.4(PHGDH):c.787A>G (p.Thr263Ala)
|
rs1651889178
|
0.00001
|
|
NM_006623.4(PHGDH):c.798G>A (p.Pro266=)
|
rs761104723
|
0.00001
|
|
NM_006623.4(PHGDH):c.81G>C (p.Gly27=)
|
rs1157171557
|
0.00001
|
|
NM_006623.4(PHGDH):c.822C>A (p.Asp274Glu)
|
rs370045696
|
0.00001
|
|
NM_006623.4(PHGDH):c.827A>C (p.Glu276Ala)
|
rs1651975372
|
0.00001
|
|
NM_006623.4(PHGDH):c.849C>T (p.His283=)
|
rs1651976766
|
0.00001
|
|
NM_006623.4(PHGDH):c.882C>T (p.Arg294=)
|
rs778794269
|
0.00001
|
|
NM_006623.4(PHGDH):c.90G>C (p.Val30=)
|
rs376722247
|
0.00001
|
|
NM_006623.4(PHGDH):c.925G>A (p.Gly309Arg)
|
rs1445772566
|
0.00001
|
|
NM_006623.4(PHGDH):c.927G>A (p.Gly309=)
|
rs1232037305
|
0.00001
|
|
NM_006623.4(PHGDH):c.945+15C>T
|
rs1244270161
|
0.00001
|
|
NM_006623.4(PHGDH):c.946-11A>G
|
rs1003480319
|
0.00001
|
|
NM_006623.4(PHGDH):c.946-20C>T
|
rs202074277
|
0.00001
|
|
NM_006623.4(PHGDH):c.946-6C>T
|
rs199629505
|
0.00001
|
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
|
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe)
|
rs771693497
|
0.00001
|
|
NM_006859.4(LIAS):c.1029T>C (p.Thr343=)
|
rs777324779
|
0.00001
|
|
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys)
|
rs760106768
|
0.00001
|
|
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
|
rs779790258
|
0.00001
|
|
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys)
|
rs1299862454
|
0.00001
|
|
NM_006859.4(LIAS):c.138A>G (p.Gln46=)
|
rs1040093656
|
0.00001
|
|
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)
|
rs1184621128
|
0.00001
|
|
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
|
rs1250162017
|
0.00001
|
|
NM_006859.4(LIAS):c.186T>C (p.Tyr62=)
|
rs1166998501
|
0.00001
|
|
NM_006859.4(LIAS):c.18G>A (p.Gly6=)
|
rs774040503
|
0.00001
|
|
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn)
|
rs761633225
|
0.00001
|
|
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr)
|
rs1172950083
|
0.00001
|
|
NM_006859.4(LIAS):c.23C>T (p.Ala8Val)
|
rs1467308371
|
0.00001
|
|
NM_006859.4(LIAS):c.24A>G (p.Ala8=)
|
rs750426614
|
0.00001
|
|
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)
|
rs999105881
|
0.00001
|
|
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
|
rs1230898917
|
0.00001
|
|
NM_006859.4(LIAS):c.29G>A (p.Arg10His)
|
rs1370681479
|
0.00001
|
|
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
|
rs773238728
|
0.00001
|
|
NM_006859.4(LIAS):c.330A>T (p.Arg110=)
|
rs757501311
|
0.00001
|
|
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
|
rs753615027
|
0.00001
|
|
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys)
|
rs754927642
|
0.00001
|
|
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg)
|
rs778779575
|
0.00001
|
|
NM_006859.4(LIAS):c.378C>T (p.Ala126=)
|
rs1190479485
|
0.00001
|
|
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)
|
rs1320749254
|
0.00001
|
|
NM_006859.4(LIAS):c.387G>A (p.Thr129=)
|
rs746196972
|
0.00001
|
|
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu)
|
rs1187910864
|
0.00001
|
|
NM_006859.4(LIAS):c.405C>T (p.Asp135=)
|
rs1458548365
|
0.00001
|
|
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys)
|
rs760870251
|
0.00001
|
|
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
|
rs977337132
|
0.00001
|
|
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln)
|
rs184218786
|
0.00001
|
|
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
|
rs1485721291
|
0.00001
|
|
NM_006859.4(LIAS):c.529C>T (p.Leu177=)
|
rs750168413
|
0.00001
|
|
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)
|
rs1553934355
|
0.00001
|
|
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala)
|
rs1210720598
|
0.00001
|
|
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
|
rs143321910
|
0.00001
|
|
NM_006859.4(LIAS):c.608+13G>A
|
rs1003800399
|
0.00001
|
|
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)
|
rs1196873747
|
0.00001
|
|
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)
|
rs869312808
|
0.00001
|
|
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)
|
rs570807277
|
0.00001
|
|
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
|
rs529501318
|
0.00001
|
|
NM_006859.4(LIAS):c.69C>T (p.Ser23=)
|
rs946086496
|
0.00001
|
|
NM_006859.4(LIAS):c.706C>T (p.His236Tyr)
|
rs1426782379
|
0.00001
|
|
NM_006859.4(LIAS):c.737+10T>G
|
rs773328488
|
0.00001
|
|
NM_006859.4(LIAS):c.737+8C>T
|
rs984126692
|
0.00001
|
|
NM_006859.4(LIAS):c.738-9G>A
|
rs1256747817
|
0.00001
|
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
|
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp)
|
rs775053206
|
0.00001
|
|
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)
|
rs1427248293
|
0.00001
|
|
NM_006859.4(LIAS):c.789A>G (p.Lys263=)
|
rs1234796638
|
0.00001
|
|
NM_006859.4(LIAS):c.81G>A (p.Pro27=)
|
rs760501971
|
0.00001
|
|
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)
|
rs796052699
|
0.00001
|
|
NM_006859.4(LIAS):c.867A>G (p.Val289=)
|
rs745794858
|
0.00001
|
|
NM_006859.4(LIAS):c.872C>T (p.Ala291Val)
|
rs769256159
|
0.00001
|
|
NM_006859.4(LIAS):c.883+17A>G
|
rs768249393
|
0.00001
|
|
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr)
|
rs774997711
|
0.00001
|
|
NM_006859.4(LIAS):c.884-18G>A
|
rs754933240
|
0.00001
|
|
NM_006859.4(LIAS):c.884-4A>G
|
rs1182861876
|
0.00001
|
|
NM_006859.4(LIAS):c.884-5T>A
|
rs374449188
|
0.00001
|
|
NM_006859.4(LIAS):c.884C>T (p.Ala295Val)
|
rs1028624548
|
0.00001
|
|
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)
|
rs796052701
|
0.00001
|
|
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)
|
rs1206469888
|
0.00001
|
|
NM_006859.4(LIAS):c.916T>C (p.Leu306=)
|
rs779455306
|
0.00001
|
|
NM_006859.4(LIAS):c.930G>A (p.Met310Ile)
|
rs796052700
|
0.00001
|
|
NM_006859.4(LIAS):c.954+1G>A
|
rs965952835
|
0.00001
|
|
NM_006859.4(LIAS):c.954+2dup
|
rs1744972353
|
0.00001
|
|
NM_006859.4(LIAS):c.988T>C (p.Tyr330His)
|
rs1481336454
|
0.00001
|
|
NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr)
|
rs1306974380
|
0.00001
|
|
NM_012213.3(MLYCD):c.1153G>A (p.Val385Met)
|
rs747617187
|
0.00001
|
|
NM_012213.3(MLYCD):c.1191G>A (p.Pro397=)
|
rs753701525
|
0.00001
|
|
NM_012213.3(MLYCD):c.1194G>C (p.Leu398=)
|
rs752228353
|
0.00001
|
|
NM_012213.3(MLYCD):c.1206C>T (p.Cys402=)
|
rs749679659
|
0.00001
|
|
NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp)
|
rs758793233
|
0.00001
|
|
NM_012213.3(MLYCD):c.1329C>T (p.Gly443=)
|
rs1240849577
|
0.00001
|
|
NM_012213.3(MLYCD):c.1347C>T (p.Gly449=)
|
rs778137956
|
0.00001
|
|
NM_012213.3(MLYCD):c.1428C>G (p.Ala476=)
|
rs570304882
|
0.00001
|
|
NM_012213.3(MLYCD):c.166C>T (p.Leu56=)
|
rs1265969148
|
0.00001
|
|
NM_012213.3(MLYCD):c.225C>T (p.Tyr75=)
|
rs528074239
|
0.00001
|
|
NM_012213.3(MLYCD):c.267C>T (p.Gly89=)
|
rs561775245
|
0.00001
|
|
NM_012213.3(MLYCD):c.282C>T (p.Gly94=)
|
rs550726820
|
0.00001
|
|
NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser)
|
rs779658559
|
0.00001
|
|
NM_012213.3(MLYCD):c.372G>T (p.Gln124His)
|
rs748979749
|
0.00001
|
|
NM_012213.3(MLYCD):c.426C>T (p.His142=)
|
rs923281597
|
0.00001
|
|
NM_012213.3(MLYCD):c.432C>T (p.Ile144=)
|
rs944533152
|
0.00001
|
|
NM_012213.3(MLYCD):c.453G>A (p.Val151=)
|
rs766316428
|
0.00001
|
|
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro)
|
rs780734812
|
0.00001
|
|
NM_012213.3(MLYCD):c.501C>G (p.Leu167=)
|
rs1003003517
|
0.00001
|
|
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp)
|
rs766257090
|
0.00001
|
|
NM_012213.3(MLYCD):c.553A>T (p.Met185Leu)
|
rs1212880594
|
0.00001
|
|
NM_012213.3(MLYCD):c.576C>T (p.Ser192=)
|
rs1399745223
|
0.00001
|
|
NM_012213.3(MLYCD):c.596G>A (p.Arg199Gln)
|
rs780910334
|
0.00001
|
|
NM_012213.3(MLYCD):c.60del (p.Arg21fs)
|
rs987846203
|
0.00001
|
|
NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser)
|
rs759089126
|
0.00001
|
|
NM_012213.3(MLYCD):c.630G>C (p.Gln210His)
|
rs761614015
|
0.00001
|
|
NM_012213.3(MLYCD):c.642-16A>G
|
rs548228436
|
0.00001
|
|
NM_012213.3(MLYCD):c.691G>A (p.Val231Ile)
|
rs774892514
|
0.00001
|
|
NM_012213.3(MLYCD):c.799-4C>T
|
rs1434940922
|
0.00001
|
|
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp)
|
rs121908081
|
0.00001
|
|
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met)
|
rs766903457
|
0.00001
|
|
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)
|
rs759043861
|
0.00001
|
|
NM_012213.3(MLYCD):c.948+7G>A
|
rs768723084
|
0.00001
|
|
NM_012213.3(MLYCD):c.961C>T (p.His321Tyr)
|
rs762720529
|
0.00001
|
|
NM_012213.3(MLYCD):c.997G>A (p.Gly333Ser)
|
rs746782812
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1019-6T>C
|
rs1207471194
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1047C>T (p.Ile349=)
|
rs768322999
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln)
|
rs398122839
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)
|
rs80338721
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1083A>T (p.Ser361=)
|
rs202177210
|
0.00001
|
|
NM_014251.3(SLC25A13):c.108C>T (p.Ser36=)
|
rs896670252
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1147C>T (p.Arg383Cys)
|
rs983514448
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1173T>G (p.Tyr391Ter)
|
rs762925301
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1177+1G>A
|
rs80338722
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1177+8C>T
|
rs1410802687
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1185G>A (p.Leu395=)
|
rs1794001316
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1197G>A (p.Leu399=)
|
rs373876605
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1231G>A (p.Val411Met)
|
rs768922690
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)
|
rs747257110
|
0.00001
|
|
NM_014251.3(SLC25A13):c.12C>T (p.Ala4=)
|
rs961482670
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1311+1G>A
|
rs80338723
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1311+8C>G
|
rs1415795866
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1392T>G (p.Thr464=)
|
rs770856997
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1438T>C (p.Phe480Leu)
|
rs759905821
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1453-5T>C
|
rs1339556280
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1494C>T (p.Ala498=)
|
rs1405058189
|
0.00001
|
|
NM_014251.3(SLC25A13):c.15+5C>T
|
rs907269562
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1547G>A (p.Gly516Glu)
|
rs763244253
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1560A>G (p.Pro520=)
|
rs1792040995
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1566C>T (p.Ser522=)
|
rs771908277
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1591+10C>A
|
rs1457922451
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1592-4G>A
|
rs1283658557
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1592-6C>T
|
rs1380040472
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1593T>C (p.Gly531=)
|
rs1347392751
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1637C>G (p.Thr546Arg)
|
rs548769905
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1660G>A (p.Ala554Thr)
|
rs774907889
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=)
|
rs199735534
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1677C>G (p.Tyr559Ter)
|
rs201168119
|
0.00001
|
|
NM_014251.3(SLC25A13):c.173T>C (p.Val58Ala)
|
rs1397231627
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1750+8A>T
|
rs749637750
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1751-12A>G
|
rs759064910
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1751-14C>T
|
rs11762136
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1751-29A>G
|
rs778800045
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1762C>T (p.Arg588Ter)
|
rs1261058897
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1763G>A (p.Arg588Gln)
|
rs121908532
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)
|
rs80338726
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1800C>T (p.Tyr600=)
|
rs765919667
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)
|
rs80338727
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1824C>T (p.Tyr608=)
|
rs1053861538
|
0.00001
|
|
NM_014251.3(SLC25A13):c.185G>A (p.Ser62Asn)
|
rs577901657
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1896G>A (p.Pro632=)
|
rs764388459
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1917C>T (p.Gly639=)
|
rs769610597
|
0.00001
|
|
NM_014251.3(SLC25A13):c.1986G>A (p.Lys662=)
|
rs778545092
|
0.00001
|
|
NM_014251.3(SLC25A13):c.225T>C (p.Phe75=)
|
rs1796689041
|
0.00001
|
|
NM_014251.3(SLC25A13):c.255G>A (p.Leu85=)
|
rs369071668
|
0.00001
|
|
NM_014251.3(SLC25A13):c.318A>G (p.Glu106=)
|
rs772488794
|
0.00001
|
|
NM_014251.3(SLC25A13):c.354G>A (p.Gln118=)
|
rs1333222363
|
0.00001
|
|
NM_014251.3(SLC25A13):c.45T>C (p.Ala15=)
|
rs142466552
|
0.00001
|
|
NM_014251.3(SLC25A13):c.507A>G (p.Gln169=)
|
rs757796108
|
0.00001
|
|
NM_014251.3(SLC25A13):c.528G>C (p.Gly176=)
|
rs769565327
|
0.00001
|
|
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
|
rs80338716
|
0.00001
|
|
NM_014251.3(SLC25A13):c.558C>T (p.Ile186=)
|
rs181615775
|
0.00001
|
|
NM_014251.3(SLC25A13):c.570C>T (p.Ile190=)
|
rs1794922644
|
0.00001
|
|
NM_014251.3(SLC25A13):c.576C>G (p.Pro192=)
|
rs753114158
|
0.00001
|
|
NM_014251.3(SLC25A13):c.582C>T (p.Val194=)
|
rs1311802793
|
0.00001
|
|
NM_014251.3(SLC25A13):c.606T>C (p.Cys202=)
|
rs957746607
|
0.00001
|
|
NM_014251.3(SLC25A13):c.609A>G (p.Leu203=)
|
rs751566503
|
0.00001
|
|
NM_014251.3(SLC25A13):c.666A>C (p.Gly222=)
|
rs200838637
|
0.00001
|
|
NM_014251.3(SLC25A13):c.70-1G>A
|
rs962082210
|
0.00001
|
|
NM_014251.3(SLC25A13):c.710A>G (p.Tyr237Cys)
|
rs748764269
|
0.00001
|
|
NM_014251.3(SLC25A13):c.720G>A (p.Leu240=)
|
rs545794488
|
0.00001
|
|
NM_014251.3(SLC25A13):c.73G>A (p.Ala25Thr)
|
rs759288496
|
0.00001
|
|
NM_014251.3(SLC25A13):c.755-6A>G
|
rs747352641
|
0.00001
|
|
NM_014251.3(SLC25A13):c.75A>G (p.Ala25=)
|
rs1024088586
|
0.00001
|
|
NM_014251.3(SLC25A13):c.768G>A (p.Leu256=)
|
rs772252278
|
0.00001
|
|
NM_014251.3(SLC25A13):c.809A>G (p.Asp270Gly)
|
rs751343245
|
0.00001
|
|
NM_014251.3(SLC25A13):c.80T>G (p.Ile27Ser)
|
rs774203119
|
0.00001
|
|
NM_014251.3(SLC25A13):c.822G>A (p.Gln274=)
|
rs1322261920
|
0.00001
|
|
NM_014251.3(SLC25A13):c.848+1G>T
|
rs761370420
|
0.00001
|
|
NM_014251.3(SLC25A13):c.849-8C>T
|
rs927032469
|
0.00001
|
|
NM_014251.3(SLC25A13):c.849-9C>G
|
rs775803606
|
0.00001
|
|
NM_014251.3(SLC25A13):c.84G>A (p.Glu28=)
|
rs770435848
|
0.00001
|
|
NM_014251.3(SLC25A13):c.874C>T (p.Arg292Trp)
|
rs142308242
|
0.00001
|
|
NM_014251.3(SLC25A13):c.906C>T (p.Pro302=)
|
rs1794753359
|
0.00001
|
|
NM_014251.3(SLC25A13):c.90C>T (p.Asn30=)
|
rs777148254
|
0.00001
|
|
NM_014251.3(SLC25A13):c.916G>A (p.Ala306Thr)
|
rs1365501165
|
0.00001
|
|
NM_014251.3(SLC25A13):c.922G>A (p.Ala308Thr)
|
rs922613966
|
0.00001
|
|
NM_014251.3(SLC25A13):c.933+10G>T
|
rs774663950
|
0.00001
|
|
NM_014251.3(SLC25A13):c.955C>T (p.Arg319Ter)
|
rs763191789
|
0.00001
|
|
NM_014251.3(SLC25A13):c.984G>A (p.Ser328=)
|
rs760851084
|
0.00001
|
|
NM_014251.3(SLC25A13):c.987C>G (p.Ala329=)
|
rs1469897135
|
0.00001
|
|
NM_014251.3(SLC25A13):c.999T>G (p.Gly333=)
|
rs748986342
|
0.00001
|
|
NM_014252.4(SLC25A15):c.134G>A (p.Arg45Gln)
|
rs201647638
|
0.00001
|
|
NM_014252.4(SLC25A15):c.175G>A (p.Gly59Ser)
|
rs1206371362
|
0.00001
|
|
NM_014252.4(SLC25A15):c.177C>A (p.Gly59=)
|
rs1057519112
|
0.00001
|
|
NM_014252.4(SLC25A15):c.18T>C (p.Ala6=)
|
rs573033866
|
0.00001
|
|
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=)
|
rs765380976
|
0.00001
|
|
NM_014252.4(SLC25A15):c.22C>T (p.Gln8Ter)
|
rs1448259297
|
0.00001
|
|
NM_014252.4(SLC25A15):c.282A>G (p.Lys94=)
|
rs761843636
|
0.00001
|
|
NM_014252.4(SLC25A15):c.346G>A (p.Ala116Thr)
|
rs770726226
|
0.00001
|
|
NM_014252.4(SLC25A15):c.372C>G (p.Leu124=)
|
rs1305315510
|
0.00001
|
|
NM_014252.4(SLC25A15):c.400C>T (p.Leu134=)
|
rs1882124544
|
0.00001
|
|
NM_014252.4(SLC25A15):c.402G>A (p.Leu134=)
|
rs1593294212
|
0.00001
|
|
NM_014252.4(SLC25A15):c.452+11C>G
|
rs780976780
|
0.00001
|
|
NM_014252.4(SLC25A15):c.453-10C>G
|
rs745823100
|
0.00001
|
|
NM_014252.4(SLC25A15):c.453-5C>T
|
rs748169316
|
0.00001
|
|
NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter)
|
rs200873328
|
0.00001
|
|
NM_014252.4(SLC25A15):c.55+8C>A
|
rs1280804783
|
0.00001
|
|
NM_014252.4(SLC25A15):c.555C>T (p.Phe185=)
|
rs1489139087
|
0.00001
|
|
NM_014252.4(SLC25A15):c.64G>A (p.Ala22Thr)
|
rs772586133
|
0.00001
|
|
NM_014252.4(SLC25A15):c.688G>A (p.Val230Met)
|
rs1185937987
|
0.00001
|
|
NM_014252.4(SLC25A15):c.701A>T (p.Lys234Ile)
|
rs780409673
|
0.00001
|
|
NM_014252.4(SLC25A15):c.744A>G (p.Gly248=)
|
rs1372683295
|
0.00001
|
|
NM_014252.4(SLC25A15):c.782-17G>A
|
rs375356896
|
0.00001
|
|
NM_014252.4(SLC25A15):c.78C>T (p.Thr26=)
|
rs1450925149
|
0.00001
|
|
NM_014252.4(SLC25A15):c.805C>T (p.Leu269=)
|
rs1397426904
|
0.00001
|
|
NM_014252.4(SLC25A15):c.81G>A (p.Gly27=)
|
rs1395458736
|
0.00001
|
|
NM_014252.4(SLC25A15):c.846A>G (p.Ala282=)
|
rs751245001
|
0.00001
|
|
NM_014252.4(SLC25A15):c.850T>C (p.Phe284Leu)
|
rs1376001064
|
0.00001
|
|
NM_014252.4(SLC25A15):c.864A>G (p.Glu288=)
|
rs756808391
|
0.00001
|
|
NM_014252.4(SLC25A15):c.873G>A (p.Arg291=)
|
rs769268831
|
0.00001
|
|
NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)
|
rs142607404
|
0.00001
|
|
NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)
|
rs1370340054
|
0.00001
|
|
NM_014362.4(HIBCH):c.153A>G (p.Leu51=)
|
rs768948062
|
0.00001
|
|
NM_014362.4(HIBCH):c.196C>A (p.Arg66=)
|
rs757976755
|
0.00001
|
|
NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)
|
rs757976755
|
0.00001
|
|
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)
|
rs121918329
|
0.00001
|
|
NM_014362.4(HIBCH):c.891+1G>A
|
rs915412371
|
0.00001
|
|
NM_014362.4(HIBCH):c.892-18A>C
|
rs113980003
|
0.00001
|
|
NM_014362.4(HIBCH):c.897T>C (p.Ile299=)
|
rs763947247
|
0.00001
|
|
NM_014384.3(ACAD8):c.1000C>T (p.Arg334Cys)
|
rs778823613
|
0.00001
|
|
NM_014384.3(ACAD8):c.233T>C (p.Met78Thr)
|
rs767613745
|
0.00001
|
|
NM_014384.3(ACAD8):c.250C>G (p.Leu84Val)
|
rs1330918776
|
0.00001
|
|
NM_014384.3(ACAD8):c.286G>A (p.Gly96Ser)
|
rs773472208
|
0.00001
|
|
NM_014384.3(ACAD8):c.292T>C (p.Ser98Pro)
|
rs773978651
|
0.00001
|
|
NM_014384.3(ACAD8):c.2T>C (p.Met1Thr)
|
rs767041100
|
0.00001
|
|
NM_014384.3(ACAD8):c.308T>G (p.Leu103Arg)
|
rs763906092
|
0.00001
|
|
NM_014384.3(ACAD8):c.326T>C (p.Phe109Ser)
|
rs1939586683
|
0.00001
|
|
NM_014384.3(ACAD8):c.337G>A (p.Ala113Thr)
|
rs751633406
|
0.00001
|
|
NM_014384.3(ACAD8):c.527C>G (p.Ala176Gly)
|
rs1288285713
|
0.00001
|
|
NM_014384.3(ACAD8):c.538G>C (p.Gly180Arg)
|
rs367999938
|
0.00001
|
|
NM_014384.3(ACAD8):c.611T>C (p.Met204Thr)
|
rs1939759468
|
0.00001
|
|
NM_014384.3(ACAD8):c.643A>G (p.Ile215Val)
|
rs151125742
|
0.00001
|
|
NM_014384.3(ACAD8):c.670A>G (p.Thr224Ala)
|
rs748422726
|
0.00001
|
|
NM_014384.3(ACAD8):c.734C>T (p.Ala245Val)
|
rs780609527
|
0.00001
|
|
NM_014384.3(ACAD8):c.806C>T (p.Ala269Val)
|
rs142790411
|
0.00001
|
|
NM_014384.3(ACAD8):c.845C>T (p.Ser282Phe)
|
rs770663870
|
0.00001
|
|
NM_014384.3(ACAD8):c.85C>T (p.Arg29Trp)
|
rs1278727402
|
0.00001
|
|
NM_014384.3(ACAD8):c.948A>G (p.Gln316=)
|
rs148005336
|
0.00001
|
|
NM_014384.3(ACAD8):c.964A>G (p.Met322Val)
|
rs1167657404
|
0.00001
|
|
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
|
rs121908420
|
0.00001
|
|
NM_014384.3(ACAD8):c.989G>A (p.Arg330Gln)
|
rs752153225
|
0.00001
|
|
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)
|
rs372262322
|
0.00001
|
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
|
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
|
rs371927733
|
0.00001
|
|
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
|
rs535215325
|
0.00001
|
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
|
NM_015506.3(MMACHC):c.213C>T (p.His71=)
|
rs746112343
|
0.00001
|
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
|
NM_015506.3(MMACHC):c.258T>C (p.His86=)
|
rs1005452717
|
0.00001
|
|
NM_015506.3(MMACHC):c.276+10G>A
|
rs1229858789
|
0.00001
|
|
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
|
rs751229877
|
0.00001
|
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
|
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
|
rs563710045
|
0.00001
|
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
|
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
|
rs1035201847
|
0.00001
|
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
|
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)
|
rs1553162901
|
0.00001
|
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
|
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
|
rs1366120426
|
0.00001
|
|
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)
|
rs1298700969
|
0.00001
|
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
|
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
|
rs769162698
|
0.00001
|
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
|
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)
|
rs774357624
|
0.00001
|
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
|
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
|
rs750002717
|
0.00001
|
|
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
|
rs755881820
|
0.00001
|
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
|
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
|
rs376037114
|
0.00001
|
|
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)
|
rs1458150108
|
0.00001
|
|
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
|
rs941778714
|
0.00001
|
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
|
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
|
rs1288893138
|
0.00001
|
|
NM_015509.4(NECAP1):c.13T>C (p.Leu5=)
|
rs780897889
|
0.00001
|
|
NM_015509.4(NECAP1):c.195A>G (p.Ser65=)
|
rs770774824
|
0.00001
|
|
NM_015509.4(NECAP1):c.197-12C>T
|
rs753873119
|
0.00001
|
|
NM_015509.4(NECAP1):c.301+14G>A
|
rs758362815
|
0.00001
|
|
NM_015509.4(NECAP1):c.302-13A>G
|
rs776765650
|
0.00001
|
|
NM_015509.4(NECAP1):c.305G>A (p.Arg102His)
|
rs766363501
|
0.00001
|
|
NM_015509.4(NECAP1):c.331A>G (p.Thr111Ala)
|
rs754771825
|
0.00001
|
|
NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn)
|
rs755866954
|
0.00001
|
|
NM_015509.4(NECAP1):c.376C>T (p.His126Tyr)
|
rs775899740
|
0.00001
|
|
NM_015509.4(NECAP1):c.39G>T (p.Val13=)
|
rs1947446999
|
0.00001
|
|
NM_015509.4(NECAP1):c.430G>A (p.Asp144Asn)
|
rs1219581866
|
0.00001
|
|
NM_015509.4(NECAP1):c.487A>G (p.Ile163Val)
|
rs1477942819
|
0.00001
|
|
NM_015509.4(NECAP1):c.516T>C (p.Gly172=)
|
rs748624358
|
0.00001
|
|
NM_015509.4(NECAP1):c.518C>T (p.Ala173Val)
|
rs770195923
|
0.00001
|
|
NM_015509.4(NECAP1):c.546G>A (p.Gly182=)
|
rs1327798217
|
0.00001
|
|
NM_015509.4(NECAP1):c.595C>T (p.Pro199Ser)
|
rs1340615210
|
0.00001
|
|
NM_015509.4(NECAP1):c.640C>T (p.Pro214Ser)
|
rs3203835
|
0.00001
|
|
NM_015509.4(NECAP1):c.648G>A (p.Pro216=)
|
rs370869772
|
0.00001
|
|
NM_015509.4(NECAP1):c.653C>A (p.Ser218Tyr)
|
rs371472296
|
0.00001
|
|
NM_015509.4(NECAP1):c.713C>T (p.Thr238Met)
|
rs763248083
|
0.00001
|
|
NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala)
|
rs752197558
|
0.00001
|
|
NM_015509.4(NECAP1):c.746A>G (p.Asn249Ser)
|
rs776221234
|
0.00001
|
|
NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu)
|
rs765737930
|
0.00001
|
|
NM_015509.4(NECAP1):c.772G>A (p.Ala258Thr)
|
rs898607958
|
0.00001
|
|
NM_015509.4(NECAP1):c.77C>T (p.Ala26Val)
|
rs1258379215
|
0.00001
|
|
NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser)
|
rs763046716
|
0.00001
|
|
NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile)
|
rs1591593478
|
0.00001
|
|
NM_015509.4(NECAP1):c.95+11C>T
|
rs1390115604
|
0.00001
|
|
NM_015509.4(NECAP1):c.95+16C>T
|
rs372167429
|
0.00001
|
|
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)
|
rs749207320
|
0.00001
|
|
NM_015662.3(IFT172):c.108G>A (p.Val36=)
|
rs1251466028
|
0.00001
|
|
NM_015662.3(IFT172):c.1092A>G (p.Gly364=)
|
rs575297457
|
0.00001
|
|
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys)
|
rs755816980
|
0.00001
|
|
NM_015662.3(IFT172):c.1108G>A (p.Val370Met)
|
rs1186256423
|
0.00001
|
|
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg)
|
rs745554539
|
0.00001
|
|
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val)
|
rs781225823
|
0.00001
|
|
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys)
|
rs143661402
|
0.00001
|
|
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys)
|
rs1470090185
|
0.00001
|
|
NM_015662.3(IFT172):c.1242C>T (p.Ala414=)
|
rs970385102
|
0.00001
|
|
NM_015662.3(IFT172):c.1306A>G (p.Met436Val)
|
rs753911273
|
0.00001
|
|
NM_015662.3(IFT172):c.1314C>G (p.Pro438=)
|
rs1435972299
|
0.00001
|
|
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln)
|
rs753504432
|
0.00001
|
|
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu)
|
rs763724145
|
0.00001
|
|
NM_015662.3(IFT172):c.1371G>A (p.Lys457=)
|
rs759436301
|
0.00001
|
|
NM_015662.3(IFT172):c.1411+17C>T
|
rs1333168893
|
0.00001
|
|
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val)
|
rs772607856
|
0.00001
|
|
NM_015662.3(IFT172):c.141A>G (p.Gly47=)
|
rs759962675
|
0.00001
|
|
NM_015662.3(IFT172):c.1443C>T (p.Thr481=)
|
rs780600337
|
0.00001
|
|
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)
|
rs771104054
|
0.00001
|
|
NM_015662.3(IFT172):c.1512C>T (p.Asp504=)
|
rs746321444
|
0.00001
|
|
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys)
|
rs371011000
|
0.00001
|
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
|
NM_015662.3(IFT172):c.1537G>A (p.Asp513Asn)
|
rs959481954
|
0.00001
|
|
NM_015662.3(IFT172):c.1572C>T (p.Asn524=)
|
rs1208242658
|
0.00001
|
|
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro)
|
rs771614435
|
0.00001
|
|
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu)
|
rs768058682
|
0.00001
|
|
NM_015662.3(IFT172):c.1609G>A (p.Val537Met)
|
rs868020223
|
0.00001
|
|
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)
|
rs755926439
|
0.00001
|
|
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr)
|
rs780205001
|
0.00001
|
|
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp)
|
rs758357901
|
0.00001
|
|
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln)
|
rs764302265
|
0.00001
|
|
NM_015662.3(IFT172):c.1719C>T (p.Gly573=)
|
rs373009930
|
0.00001
|
|
NM_015662.3(IFT172):c.1731C>G (p.Thr577=)
|
rs369849820
|
0.00001
|
|
NM_015662.3(IFT172):c.1773A>G (p.Thr591=)
|
rs1415381763
|
0.00001
|
|
NM_015662.3(IFT172):c.178A>G (p.Met60Val)
|
rs758377122
|
0.00001
|
|
NM_015662.3(IFT172):c.183+7A>G
|
rs1357322553
|
0.00001
|
|
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr)
|
rs147288623
|
0.00001
|
|
NM_015662.3(IFT172):c.1929T>C (p.Ile643=)
|
rs375541145
|
0.00001
|
|
NM_015662.3(IFT172):c.1935G>A (p.Glu645=)
|
rs755341436
|
0.00001
|
|
NM_015662.3(IFT172):c.1937+10A>G
|
rs544892086
|
0.00001
|
|
NM_015662.3(IFT172):c.2022+13C>T
|
rs905264258
|
0.00001
|
|
NM_015662.3(IFT172):c.2022+7A>G
|
rs773433922
|
0.00001
|
|
NM_015662.3(IFT172):c.2023-18C>T
|
rs780624216
|
0.00001
|
|
NM_015662.3(IFT172):c.2023-7C>T
|
rs758190461
|
0.00001
|
|
NM_015662.3(IFT172):c.2025C>T (p.Gly675=)
|
rs762659921
|
0.00001
|
|
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala)
|
rs746240262
|
0.00001
|
|
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile)
|
rs1400020833
|
0.00001
|
|
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys)
|
rs145946722
|
0.00001
|
|
NM_015662.3(IFT172):c.2115+15G>A
|
rs764321777
|
0.00001
|
|
NM_015662.3(IFT172):c.2127G>A (p.Glu709=)
|
rs752839444
|
0.00001
|
|
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)
|
rs144645349
|
0.00001
|
|
NM_015662.3(IFT172):c.2175C>T (p.Ile725=)
|
rs535676099
|
0.00001
|
|
NM_015662.3(IFT172):c.2194-3C>T
|
rs906297666
|
0.00001
|
|
NM_015662.3(IFT172):c.2208G>A (p.Leu736=)
|
rs1235366375
|
0.00001
|
|
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys)
|
rs187728607
|
0.00001
|
|
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys)
|
rs984586780
|
0.00001
|
|
NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn)
|
rs367874978
|
0.00001
|
|
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val)
|
rs145926013
|
0.00001
|
|
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)
|
rs202024173
|
0.00001
|
|
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr)
|
rs766853711
|
0.00001
|
|
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser)
|
rs1387032631
|
0.00001
|
|
NM_015662.3(IFT172):c.2427G>A (p.Gly809=)
|
rs760908963
|
0.00001
|
|
NM_015662.3(IFT172):c.2442+13C>T
|
rs749766704
|
0.00001
|
|
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe)
|
rs374015331
|
0.00001
|
|
NM_015662.3(IFT172):c.2498G>A (p.Arg833His)
|
rs756767071
|
0.00001
|
|
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr)
|
rs752494593
|
0.00001
|
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
|
NM_015662.3(IFT172):c.2537G>A (p.Arg846Gln)
|
rs199784373
|
0.00001
|
|
NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala)
|
rs1401639649
|
0.00001
|
|
NM_015662.3(IFT172):c.2567del (p.Leu856fs)
|
rs1357839545
|
0.00001
|
|
NM_015662.3(IFT172):c.2601G>A (p.Gln867=)
|
rs1406843732
|
0.00001
|
|
NM_015662.3(IFT172):c.2634C>T (p.Ile878=)
|
rs761022629
|
0.00001
|
|
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser)
|
rs1443634104
|
0.00001
|
|
NM_015662.3(IFT172):c.2643-18C>A
|
rs922995821
|
0.00001
|
|
NM_015662.3(IFT172):c.2653A>G (p.Lys885Glu)
|
rs975731134
|
0.00001
|
|
NM_015662.3(IFT172):c.2680C>T (p.Arg894Cys)
|
rs370531520
|
0.00001
|
|
NM_015662.3(IFT172):c.2691G>T (p.Lys897Asn)
|
rs1320948238
|
0.00001
|
|
NM_015662.3(IFT172):c.2695G>A (p.Ala899Thr)
|
rs776148073
|
0.00001
|
|
NM_015662.3(IFT172):c.270C>A (p.Ile90=)
|
rs759058747
|
0.00001
|
|
NM_015662.3(IFT172):c.2724G>A (p.Arg908=)
|
rs367662405
|
0.00001
|
|
NM_015662.3(IFT172):c.2751C>T (p.Leu917=)
|
rs777958898
|
0.00001
|
|
NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter)
|
rs750338419
|
0.00001
|
|
NM_015662.3(IFT172):c.2796G>A (p.Glu932=)
|
rs566830176
|
0.00001
|
|
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn)
|
rs1275938087
|
0.00001
|
|
NM_015662.3(IFT172):c.2866C>T (p.Gln956Ter)
|
rs144450109
|
0.00001
|
|
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu)
|
rs1271431771
|
0.00001
|
|
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr)
|
rs1009534874
|
0.00001
|
|
NM_015662.3(IFT172):c.2919A>G (p.Leu973=)
|
rs1480327016
|
0.00001
|
|
NM_015662.3(IFT172):c.2975+8G>A
|
rs750348734
|
0.00001
|
|
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys)
|
rs994624984
|
0.00001
|
|
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=)
|
rs757083011
|
0.00001
|
|
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala)
|
rs569281478
|
0.00001
|
|
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys)
|
rs1358114348
|
0.00001
|
|
NM_015662.3(IFT172):c.3094C>T (p.His1032Tyr)
|
rs752920969
|
0.00001
|
|
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=)
|
rs1029240622
|
0.00001
|
|
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln)
|
rs755990223
|
0.00001
|
|
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr)
|
rs560379580
|
0.00001
|
|
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp)
|
rs148997142
|
0.00001
|
|
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly)
|
rs770486522
|
0.00001
|
|
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg)
|
rs1008321384
|
0.00001
|
|
NM_015662.3(IFT172):c.336+20C>G
|
rs1412070265
|
0.00001
|
|
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)
|
rs146615936
|
0.00001
|
|
NM_015662.3(IFT172):c.337-11C>T
|
rs745921292
|
0.00001
|
|
NM_015662.3(IFT172):c.3370T>C (p.Cys1124Arg)
|
rs931407294
|
0.00001
|
|
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=)
|
rs369025741
|
0.00001
|
|
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn)
|
rs778306652
|
0.00001
|
|
NM_015662.3(IFT172):c.3465+10T>C
|
rs780429245
|
0.00001
|
|
NM_015662.3(IFT172):c.3465+9G>A
|
rs1665997491
|
0.00001
|
|
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile)
|
rs751230602
|
0.00001
|
|
NM_015662.3(IFT172):c.3530+11C>G
|
rs777469179
|
0.00001
|
|
NM_015662.3(IFT172):c.3531-11C>A
|
rs1489039902
|
0.00001
|
|
NM_015662.3(IFT172):c.354G>A (p.Leu118=)
|
rs757988462
|
0.00001
|
|
NM_015662.3(IFT172):c.3568G>A (p.Val1190Met)
|
rs1456528874
|
0.00001
|
|
NM_015662.3(IFT172):c.3575A>G (p.Glu1192Gly)
|
rs1356192791
|
0.00001
|
|
NM_015662.3(IFT172):c.3582C>T (p.His1194=)
|
rs376037251
|
0.00001
|
|
NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn)
|
rs762074176
|
0.00001
|
|
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=)
|
rs768132019
|
0.00001
|
|
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp)
|
rs779395435
|
0.00001
|
|
NM_015662.3(IFT172):c.363G>A (p.Pro121=)
|
rs761759245
|
0.00001
|
|
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=)
|
rs370204045
|
0.00001
|
|
NM_015662.3(IFT172):c.3746G>A (p.Cys1249Tyr)
|
rs139455520
|
0.00001
|
|
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val)
|
rs1665910456
|
0.00001
|
|
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=)
|
rs759026392
|
0.00001
|
|
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg)
|
rs765703265
|
0.00001
|
|
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)
|
rs373382907
|
0.00001
|
|
NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val)
|
rs1012597627
|
0.00001
|
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
|
NM_015662.3(IFT172):c.3796C>T (p.Arg1266Trp)
|
rs902724768
|
0.00001
|
|
NM_015662.3(IFT172):c.3821+20G>T
|
rs747215115
|
0.00001
|
|
NM_015662.3(IFT172):c.3822-19A>T
|
rs1204452162
|
0.00001
|
|
NM_015662.3(IFT172):c.3836T>C (p.Phe1279Ser)
|
rs1303152998
|
0.00001
|
|
NM_015662.3(IFT172):c.3859G>A (p.Glu1287Lys)
|
rs1336146422
|
0.00001
|
|
NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly)
|
rs780413940
|
0.00001
|
|
NM_015662.3(IFT172):c.3881G>A (p.Arg1294His)
|
rs947637366
|
0.00001
|
|
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met)
|
rs757728167
|
0.00001
|
|
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter)
|
rs587777087
|
0.00001
|
|
NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln)
|
rs768194578
|
0.00001
|
|
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=)
|
rs764778967
|
0.00001
|
|
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=)
|
rs768633686
|
0.00001
|
|
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val)
|
rs760562906
|
0.00001
|
|
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter)
|
rs778898472
|
0.00001
|
|
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=)
|
rs1384062308
|
0.00001
|
|
NM_015662.3(IFT172):c.40-10G>T
|
rs769327900
|
0.00001
|
|
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile)
|
rs755670491
|
0.00001
|
|
NM_015662.3(IFT172):c.4014A>G (p.Val1338=)
|
rs527544045
|
0.00001
|
|
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr)
|
rs766061673
|
0.00001
|
|
NM_015662.3(IFT172):c.403G>A (p.Val135Ile)
|
rs201476743
|
0.00001
|
|
NM_015662.3(IFT172):c.407G>A (p.Arg136His)
|
rs763923637
|
0.00001
|
|
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=)
|
rs747729113
|
0.00001
|
|
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=)
|
rs1039315733
|
0.00001
|
|
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu)
|
rs963343817
|
0.00001
|
|
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro)
|
rs371612970
|
0.00001
|
|
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu)
|
rs760582917
|
0.00001
|
|
NM_015662.3(IFT172):c.4230G>A (p.Val1410=)
|
rs145041736
|
0.00001
|
|
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu)
|
rs748345321
|
0.00001
|
|
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg)
|
rs1665446592
|
0.00001
|
|
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=)
|
rs754200053
|
0.00001
|
|
NM_015662.3(IFT172):c.42T>C (p.Asp14=)
|
rs1668694687
|
0.00001
|
|
NM_015662.3(IFT172):c.4312-10C>T
|
rs767163406
|
0.00001
|
|
NM_015662.3(IFT172):c.4312-9C>T
|
rs1665420944
|
0.00001
|
|
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala)
|
rs761701917
|
0.00001
|
|
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys)
|
rs775476765
|
0.00001
|
|
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr)
|
rs749834823
|
0.00001
|
|
NM_015662.3(IFT172):c.4508G>A (p.Trp1503Ter)
|
rs1665288663
|
0.00001
|
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
|
NM_015662.3(IFT172):c.4539+11G>A
|
rs756814532
|
0.00001
|
|
NM_015662.3(IFT172):c.4539+18C>T
|
rs771718287
|
0.00001
|
|
NM_015662.3(IFT172):c.4539+6G>A
|
rs745480523
|
0.00001
|
|
NM_015662.3(IFT172):c.4540-13C>T
|
rs1665265846
|
0.00001
|
|
NM_015662.3(IFT172):c.4540-20G>T
|
rs538748702
|
0.00001
|
|
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp)
|
rs758565766
|
0.00001
|
|
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys)
|
rs764604255
|
0.00001
|
|
NM_015662.3(IFT172):c.4597dup (p.Thr1533fs)
|
rs1183354903
|
0.00001
|
|
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=)
|
rs901644807
|
0.00001
|
|
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val)
|
rs1290255701
|
0.00001
|
|
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His)
|
rs746827700
|
0.00001
|
|
NM_015662.3(IFT172):c.4659+18G>A
|
rs757297478
|
0.00001
|
|
NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser)
|
rs777980611
|
0.00001
|
|
NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile)
|
rs774941853
|
0.00001
|
|
NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr)
|
rs773569919
|
0.00001
|
|
NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly)
|
rs754517347
|
0.00001
|
|
NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile)
|
rs762958757
|
0.00001
|
|
NM_015662.3(IFT172):c.4878C>T (p.Pro1626=)
|
rs773180868
|
0.00001
|
|
NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)
|
rs1237678953
|
0.00001
|
|
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln)
|
rs201840472
|
0.00001
|
|
NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys)
|
rs370504937
|
0.00001
|
|
NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln)
|
rs549415233
|
0.00001
|
|
NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln)
|
rs1488810130
|
0.00001
|
|
NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)
|
rs779670290
|
0.00001
|
|
NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln)
|
rs749884570
|
0.00001
|
|
NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly)
|
rs1664968356
|
0.00001
|
|
NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys)
|
rs757212554
|
0.00001
|
|
NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=)
|
rs1459018703
|
0.00001
|
|
NM_015662.3(IFT172):c.5050C>T (p.Leu1684=)
|
rs1350772419
|
0.00001
|
|
NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)
|
rs775285304
|
0.00001
|
|
NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe)
|
rs917873749
|
0.00001
|
|
NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)
|
rs868748622
|
0.00001
|
|
NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu)
|
rs146309780
|
0.00001
|
|
NM_015662.3(IFT172):c.5160+5G>A
|
rs1664926036
|
0.00001
|
|
NM_015662.3(IFT172):c.516A>G (p.Ala172=)
|
rs1302439397
|
0.00001
|
|
NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg)
|
rs148800421
|
0.00001
|
|
NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys)
|
rs753075654
|
0.00001
|
|
NM_015662.3(IFT172):c.5188G>A (p.Val1730Met)
|
rs985755052
|
0.00001
|
|
NM_015662.3(IFT172):c.570+19G>A
|
rs761066634
|
0.00001
|
|
NM_015662.3(IFT172):c.582T>C (p.Val194=)
|
rs533475435
|
0.00001
|
|
NM_015662.3(IFT172):c.591G>A (p.Pro197=)
|
rs747654101
|
0.00001
|
|
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg)
|
rs776260844
|
0.00001
|
|
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)
|
rs751486617
|
0.00001
|
|
NM_015662.3(IFT172):c.5A>C (p.His2Pro)
|
rs781257867
|
0.00001
|
|
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser)
|
rs1437164423
|
0.00001
|
|
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp)
|
rs773661262
|
0.00001
|
|
NM_015662.3(IFT172):c.690A>G (p.Gln230=)
|
rs892639684
|
0.00001
|
|
NM_015662.3(IFT172):c.6C>T (p.His2=)
|
rs1430470069
|
0.00001
|
|
NM_015662.3(IFT172):c.739G>C (p.Val247Leu)
|
rs144379702
|
0.00001
|
|
NM_015662.3(IFT172):c.785G>T (p.Arg262Met)
|
rs1235295289
|
0.00001
|
|
NM_015662.3(IFT172):c.786-15C>T
|
rs200145274
|
0.00001
|
|
NM_015662.3(IFT172):c.786-16A>G
|
rs769974669
|
0.00001
|
|
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp)
|
rs750783565
|
0.00001
|
|
NM_015662.3(IFT172):c.798C>T (p.Phe266=)
|
rs755850960
|
0.00001
|
|
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln)
|
rs375847990
|
0.00001
|
|
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys)
|
rs766223232
|
0.00001
|
|
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp)
|
rs1246454433
|
0.00001
|
|
NM_015662.3(IFT172):c.909+12G>C
|
rs752407974
|
0.00001
|
|
NM_015662.3(IFT172):c.909G>A (p.Val303=)
|
rs139685481
|
0.00001
|
|
NM_015662.3(IFT172):c.936G>A (p.Gln312=)
|
rs139291216
|
0.00001
|
|
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly)
|
rs751177541
|
0.00001
|
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
|
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
|
rs1448387303
|
0.00001
|
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
|
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)
|
rs763521620
|
0.00001
|
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
|
NM_015702.3(MMADHC):c.372+7T>C
|
rs368516017
|
0.00001
|
|
NM_015702.3(MMADHC):c.373-16T>C
|
rs754844727
|
0.00001
|
|
NM_015702.3(MMADHC):c.373-8C>A
|
rs766361763
|
0.00001
|
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
|
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
|
rs1478523517
|
0.00001
|
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
|
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
|
rs778778537
|
0.00001
|
|
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
|
rs1282238457
|
0.00001
|
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
|
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
|
rs1485998377
|
0.00001
|
|
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)
|
rs1427942673
|
0.00001
|
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
|
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)
|
rs376860199
|
0.00001
|
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
|
NM_015702.3(MMADHC):c.828A>G (p.Val276=)
|
rs937318527
|
0.00001
|
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
|
NM_015702.3(MMADHC):c.9+12A>C
|
rs570608507
|
0.00001
|
|
NM_016335.6(PRODH):c.1006G>A (p.Ala336Thr)
|
rs1160517835
|
0.00001
|
|
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter)
|
rs772562722
|
0.00001
|
|
NM_016335.6(PRODH):c.1294C>T (p.Arg432Cys)
|
rs376682221
|
0.00001
|
|
NM_016335.6(PRODH):c.131C>G (p.Thr44Arg)
|
rs562183461
|
0.00001
|
|
NM_016335.6(PRODH):c.1427+8G>T
|
rs765272958
|
0.00001
|
|
NM_016335.6(PRODH):c.1659C>T (p.Pro553=)
|
rs778275329
|
0.00001
|
|
NM_016579.4(CD320):c.143-9A>G
|
rs779568253
|
0.00001
|
|
NM_016579.4(CD320):c.202G>A (p.Val68Met)
|
rs748020753
|
0.00001
|
|
NM_016579.4(CD320):c.210C>T (p.Leu70=)
|
rs780676013
|
0.00001
|
|
NM_016579.4(CD320):c.212C>G (p.Thr71Ser)
|
rs560650557
|
0.00001
|
|
NM_016579.4(CD320):c.306G>A (p.Pro102=)
|
rs755073624
|
0.00001
|
|
NM_016579.4(CD320):c.32C>A (p.Ala11Glu)
|
rs567898376
|
0.00001
|
|
NM_016579.4(CD320):c.334G>A (p.Gly112Ser)
|
rs948576208
|
0.00001
|
|
NM_016579.4(CD320):c.404G>T (p.Gly135Val)
|
rs751841592
|
0.00001
|
|
NM_016579.4(CD320):c.459C>T (p.Asp153=)
|
rs750510195
|
0.00001
|
|
NM_016579.4(CD320):c.7G>A (p.Gly3Ser)
|
rs778033415
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=)
|
rs558926049
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
|
rs1380343985
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)
|
rs1382933312
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1417+9A>G
|
rs763882735
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1418-20T>A
|
rs758519179
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1510-19G>A
|
rs1484305691
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)
|
rs771408766
|
0.00001
|
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
|
NM_018368.4(LMBRD1):c.247-4C>T
|
rs1321930777
|
0.00001
|
|
NM_018368.4(LMBRD1):c.291A>G (p.Val97=)
|
rs752864942
|
0.00001
|
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
0.00001
|
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
|
NM_018706.7(DHTKD1):c.102G>A (p.Arg34=)
|
rs766251442
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu)
|
rs556384043
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1159+4C>T
|
rs376431681
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1228C>T (p.Arg410Ter)
|
rs397514534
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1229G>A (p.Arg410Gln)
|
rs748482829
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1257C>T (p.Phe419=)
|
rs775165668
|
0.00001
|
|
NM_018706.7(DHTKD1):c.128C>G (p.Pro43Arg)
|
rs1277649888
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1307A>G (p.Asn436Ser)
|
rs368119003
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1315G>C (p.Asp439His)
|
rs995123652
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1358+19G>A
|
rs760227108
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1358+20T>C
|
rs766003951
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1358+9A>G
|
rs1270166462
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1363C>T (p.Arg455Ter)
|
rs201369986
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1371C>T (p.Ser457=)
|
rs760150534
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1477A>G (p.Asn493Asp)
|
rs761255122
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1533C>T (p.Gly511=)
|
rs372588654
|
0.00001
|
|
NM_018706.7(DHTKD1):c.154+20C>A
|
rs1183216028
|
0.00001
|
|
NM_018706.7(DHTKD1):c.155-17A>G
|
rs746248223
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1557C>T (p.Ile519=)
|
rs759650263
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1581C>T (p.Pro527=)
|
rs1588612349
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1641G>A (p.Met547Ile)
|
rs561793789
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1839G>A (p.Thr613=)
|
rs202019251
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1850A>C (p.Tyr617Ser)
|
rs773859468
|
0.00001
|
|
NM_018706.7(DHTKD1):c.186dup (p.Tyr63fs)
|
rs1383399355
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1980G>T (p.Leu660=)
|
rs1050041160
|
0.00001
|
|
NM_018706.7(DHTKD1):c.1981T>G (p.Trp661Gly)
|
rs755428426
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2135G>A (p.Arg712Gln)
|
rs755668251
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2176G>C (p.Gly726Arg)
|
rs763086542
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2206G>A (p.Val736Met)
|
rs761744657
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2284_2286del (p.Ile762del)
|
rs765370424
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2285T>C (p.Ile762Thr)
|
rs773205356
|
0.00001
|
|
NM_018706.7(DHTKD1):c.229T>G (p.Phe77Val)
|
rs371209000
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2326G>T (p.Val776Leu)
|
rs200042516
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2402+3A>G
|
rs754298961
|
0.00001
|
|
NM_018706.7(DHTKD1):c.240A>C (p.Gln80His)
|
rs1407480386
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2412C>A (p.Thr804=)
|
rs765729432
|
0.00001
|
|
NM_018706.7(DHTKD1):c.243C>T (p.Ala81=)
|
rs375541349
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2465C>T (p.Ser822Phe)
|
rs768650459
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter)
|
rs770649540
|
0.00001
|
|
NM_018706.7(DHTKD1):c.255T>C (p.Asn85=)
|
rs755459607
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2611C>T (p.Pro871Ser)
|
rs150960212
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2627C>T (p.Ser876Phe)
|
rs569696877
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2667G>A (p.Leu889=)
|
rs781702712
|
0.00001
|
|
NM_018706.7(DHTKD1):c.2747A>G (p.Lys916Arg)
|
rs1016086446
|
0.00001
|
|
NM_018706.7(DHTKD1):c.311-3C>G
|
rs761346066
|
0.00001
|
|
NM_018706.7(DHTKD1):c.403T>G (p.Ser135Ala)
|
rs755902715
|
0.00001
|
|
NM_018706.7(DHTKD1):c.408A>G (p.Gln136=)
|
rs1161663539
|
0.00001
|
|
NM_018706.7(DHTKD1):c.495T>C (p.His165=)
|
rs1298715789
|
0.00001
|
|
NM_018706.7(DHTKD1):c.522+11G>T
|
rs771751313
|
0.00001
|
|
NM_018706.7(DHTKD1):c.522+3A>G
|
rs1204654576
|
0.00001
|
|
NM_018706.7(DHTKD1):c.577G>A (p.Glu193Lys)
|
rs1052367278
|
0.00001
|
|
NM_018706.7(DHTKD1):c.600C>T (p.Gly200=)
|
rs752556444
|
0.00001
|
|
NM_018706.7(DHTKD1):c.824C>T (p.Ala275Val)
|
rs374760148
|
0.00001
|
|
NM_018706.7(DHTKD1):c.886G>A (p.Val296Met)
|
rs763791918
|
0.00001
|
|
NM_018706.7(DHTKD1):c.906C>T (p.Arg302=)
|
rs779076881
|
0.00001
|
|
NM_018706.7(DHTKD1):c.920C>T (p.Ser307Phe)
|
rs777908204
|
0.00001
|
|
NM_018706.7(DHTKD1):c.931G>A (p.Gly311Ser)
|
rs372367790
|
0.00001
|
|
NM_018706.7(DHTKD1):c.965G>C (p.Gly322Ala)
|
rs200814440
|
0.00001
|
|
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
|
rs773895702
|
0.00001
|
|
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
|
rs965802215
|
0.00001
|
|
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter)
|
rs367625370
|
0.00001
|
|
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=)
|
rs746900508
|
0.00001
|
|
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile)
|
rs1714102747
|
0.00001
|
|
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
|
rs1333357031
|
0.00001
|
|
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
|
rs777766730
|
0.00001
|
|
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=)
|
rs781302711
|
0.00001
|
|
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser)
|
rs1560224165
|
0.00001
|
|
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)
|
rs1484347924
|
0.00001
|
|
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
|
rs946293038
|
0.00001
|
|
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp)
|
rs764744442
|
0.00001
|
|
NM_020166.5(MCCC1):c.1268-1G>A
|
rs1191868168
|
0.00001
|
|
NM_020166.5(MCCC1):c.1268-7A>G
|
rs1417892958
|
0.00001
|
|
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
|
rs779316162
|
0.00001
|
|
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=)
|
rs763713221
|
0.00001
|
|
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)
|
rs398124352
|
0.00001
|
|
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys)
|
rs375996272
|
0.00001
|
|
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile)
|
rs1410294013
|
0.00001
|
|
NM_020166.5(MCCC1):c.135A>T (p.Thr45=)
|
rs1286585591
|
0.00001
|
|
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
|
rs369847846
|
0.00001
|
|
NM_020166.5(MCCC1):c.1377+18G>A
|
rs1373677740
|
0.00001
|
|
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
|
rs780740389
|
0.00001
|
|
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=)
|
rs763803301
|
0.00001
|
|
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter)
|
rs1713700813
|
0.00001
|
|
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=)
|
rs746494126
|
0.00001
|
|
NM_020166.5(MCCC1):c.1594+6G>C
|
rs777825199
|
0.00001
|
|
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser)
|
rs1553853001
|
0.00001
|
|
NM_020166.5(MCCC1):c.1681+2T>C
|
rs1333994006
|
0.00001
|
|
NM_020166.5(MCCC1):c.1682-3A>G
|
rs760180709
|
0.00001
|
|
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser)
|
rs112307657
|
0.00001
|
|
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
|
rs1577245387
|
0.00001
|
|
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
|
rs747015041
|
0.00001
|
|
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
|
rs749473644
|
0.00001
|
|
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=)
|
rs200025893
|
0.00001
|
|
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn)
|
rs569721834
|
0.00001
|
|
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
|
rs769042107
|
0.00001
|
|
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=)
|
rs747354023
|
0.00001
|
|
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
|
rs201782543
|
0.00001
|
|
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
|
rs756447790
|
0.00001
|
|
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
|
rs758827154
|
0.00001
|
|
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=)
|
rs1382492613
|
0.00001
|
|
NM_020166.5(MCCC1):c.189G>A (p.Arg63=)
|
rs753180751
|
0.00001
|
|
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg)
|
rs755699519
|
0.00001
|
|
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
|
rs903196916
|
0.00001
|
|
NM_020166.5(MCCC1):c.2049+10T>C
|
rs1233685852
|
0.00001
|
|
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
|
rs765720892
|
0.00001
|
|
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=)
|
rs762296041
|
0.00001
|
|
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
|
rs750133436
|
0.00001
|
|
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
|
rs984881958
|
0.00001
|
|
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
|
rs781286566
|
0.00001
|
|
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn)
|
rs774565207
|
0.00001
|
|
NM_020166.5(MCCC1):c.263A>G (p.His88Arg)
|
rs1352224093
|
0.00001
|
|
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr)
|
rs1453501166
|
0.00001
|
|
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val)
|
rs772547872
|
0.00001
|
|
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
|
rs1163620394
|
0.00001
|
|
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
|
rs920162850
|
0.00001
|
|
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val)
|
rs754963220
|
0.00001
|
|
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
|
rs780072787
|
0.00001
|
|
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn)
|
rs1055095015
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-4A>G
|
rs908545297
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-6C>T
|
rs746685018
|
0.00001
|
|
NM_020166.5(MCCC1):c.492-7T>C
|
rs768336115
|
0.00001
|
|
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val)
|
rs748201122
|
0.00001
|
|
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
|
rs1198116993
|
0.00001
|
|
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)
|
rs149268368
|
0.00001
|
|
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
|
rs749287771
|
0.00001
|
|
NM_020166.5(MCCC1):c.639+2T>A
|
rs199914879
|
0.00001
|
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
|
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu)
|
rs1248070890
|
0.00001
|
|
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp)
|
rs727504004
|
0.00001
|
|
NM_020166.5(MCCC1):c.6G>A (p.Ala2=)
|
rs768348047
|
0.00001
|
|
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
|
rs1716633366
|
0.00001
|
|
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys)
|
rs952738286
|
0.00001
|
|
NM_020166.5(MCCC1):c.762G>A (p.Arg254=)
|
rs149389595
|
0.00001
|
|
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr)
|
rs767642062
|
0.00001
|
|
NM_020166.5(MCCC1):c.804del (p.Val269fs)
|
rs1307113234
|
0.00001
|
|
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
|
rs1164035251
|
0.00001
|
|
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
|
rs754437245
|
0.00001
|
|
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly)
|
rs746500530
|
0.00001
|
|
NM_020166.5(MCCC1):c.872del (p.Ala291fs)
|
rs748269732
|
0.00001
|
|
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
|
rs974953181
|
0.00001
|
|
NM_020166.5(MCCC1):c.89+1G>C
|
rs771730236
|
0.00001
|
|
NM_020166.5(MCCC1):c.89+20C>T
|
rs749164963
|
0.00001
|
|
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)
|
rs750484977
|
0.00001
|
|
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
|
rs1191355416
|
0.00001
|
|
NM_020686.6(ABAT):c.1005G>A (p.Thr335=)
|
rs557375445
|
0.00001
|
|
NM_020686.6(ABAT):c.1018G>A (p.Ala340Thr)
|
rs2060223213
|
0.00001
|
|
NM_020686.6(ABAT):c.1057A>G (p.Met353Val)
|
rs760898650
|
0.00001
|
|
NM_020686.6(ABAT):c.1082C>G (p.Thr361Ser)
|
rs774473099
|
0.00001
|
|
NM_020686.6(ABAT):c.1089C>T (p.Gly363=)
|
rs767008763
|
0.00001
|
|
NM_020686.6(ABAT):c.110T>C (p.Val37Ala)
|
rs373781844
|
0.00001
|
|
NM_020686.6(ABAT):c.1125C>G (p.Pro375=)
|
rs755056622
|
0.00001
|
|
NM_020686.6(ABAT):c.1129C>T (p.Arg377Trp)
|
rs1330995774
|
0.00001
|
|
NM_020686.6(ABAT):c.1130G>A (p.Arg377Gln)
|
rs370489933
|
0.00001
|
|
NM_020686.6(ABAT):c.1191C>T (p.Asn397=)
|
rs764870964
|
0.00001
|
|
NM_020686.6(ABAT):c.1207G>A (p.Asp403Asn)
|
rs751974207
|
0.00001
|
|
NM_020686.6(ABAT):c.1239G>C (p.Lys413Asn)
|
rs2060265382
|
0.00001
|
|
NM_020686.6(ABAT):c.1269+7C>T
|
rs751971295
|
0.00001
|
|
NM_020686.6(ABAT):c.1311C>T (p.Gly437=)
|
rs1481554008
|
0.00001
|
|
NM_020686.6(ABAT):c.1327G>A (p.Asp443Asn)
|
rs750680169
|
0.00001
|
|
NM_020686.6(ABAT):c.1348C>T (p.Arg450Trp)
|
rs748725086
|
0.00001
|
|
NM_020686.6(ABAT):c.1353T>A (p.Asn451Lys)
|
rs778319783
|
0.00001
|
|
NM_020686.6(ABAT):c.1381+6G>A
|
rs777241102
|
0.00001
|
|
NM_020686.6(ABAT):c.1412C>G (p.Ser471Cys)
|
rs768495738
|
0.00001
|
|
NM_020686.6(ABAT):c.1424G>A (p.Arg475His)
|
rs762137050
|
0.00001
|
|
NM_020686.6(ABAT):c.1429A>G (p.Thr477Ala)
|
rs1292109941
|
0.00001
|
|
NM_020686.6(ABAT):c.1431G>A (p.Thr477=)
|
rs573157071
|
0.00001
|
|
NM_020686.6(ABAT):c.1491A>G (p.Ala497=)
|
rs1290355155
|
0.00001
|
|
NM_020686.6(ABAT):c.153A>C (p.Pro51=)
|
rs1368430890
|
0.00001
|
|
NM_020686.6(ABAT):c.156G>A (p.Gly52=)
|
rs955478669
|
0.00001
|
|
NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)
|
rs903906856
|
0.00001
|
|
NM_020686.6(ABAT):c.168+3G>A
|
rs1294985666
|
0.00001
|
|
NM_020686.6(ABAT):c.169-2A>G
|
rs939876800
|
0.00001
|
|
NM_020686.6(ABAT):c.169-6C>T
|
rs758166055
|
0.00001
|
|
NM_020686.6(ABAT):c.170A>C (p.Glu57Ala)
|
rs539748102
|
0.00001
|
|
NM_020686.6(ABAT):c.18C>T (p.Leu6=)
|
rs766349160
|
0.00001
|
|
NM_020686.6(ABAT):c.199-7C>T
|
rs1488250705
|
0.00001
|
|
NM_020686.6(ABAT):c.205G>A (p.Glu69Lys)
|
rs752701740
|
0.00001
|
|
NM_020686.6(ABAT):c.231C>T (p.Tyr77=)
|
rs746154029
|
0.00001
|
|
NM_020686.6(ABAT):c.232G>A (p.Glu78Lys)
|
rs565305929
|
0.00001
|
|
NM_020686.6(ABAT):c.249T>C (p.Asn83=)
|
rs564543173
|
0.00001
|
|
NM_020686.6(ABAT):c.275G>A (p.Arg92Gln)
|
rs724159992
|
0.00001
|
|
NM_020686.6(ABAT):c.279G>A (p.Met93Ile)
|
rs1555490154
|
0.00001
|
|
NM_020686.6(ABAT):c.285T>C (p.Asp95=)
|
rs917180192
|
0.00001
|
|
NM_020686.6(ABAT):c.316+19T>C
|
rs1278852788
|
0.00001
|
|
NM_020686.6(ABAT):c.317-11C>T
|
rs779744741
|
0.00001
|
|
NM_020686.6(ABAT):c.317-18A>G
|
rs2059688012
|
0.00001
|
|
NM_020686.6(ABAT):c.365C>T (p.Ala122Val)
|
rs761782312
|
0.00001
|
|
NM_020686.6(ABAT):c.366+13G>T
|
rs769166673
|
0.00001
|
|
NM_020686.6(ABAT):c.387C>T (p.Pro129=)
|
rs759203240
|
0.00001
|
|
NM_020686.6(ABAT):c.399C>T (p.Ile133=)
|
rs1272415972
|
0.00001
|
|
NM_020686.6(ABAT):c.448-11C>G
|
rs771506614
|
0.00001
|
|
NM_020686.6(ABAT):c.448-5C>A
|
rs374659543
|
0.00001
|
|
NM_020686.6(ABAT):c.451G>A (p.Ala151Thr)
|
rs1210477111
|
0.00001
|
|
NM_020686.6(ABAT):c.482T>G (p.Met161Arg)
|
rs1323737693
|
0.00001
|
|
NM_020686.6(ABAT):c.511G>A (p.Ala171Thr)
|
rs903118661
|
0.00001
|
|
NM_020686.6(ABAT):c.525C>T (p.Ile175=)
|
rs1382391739
|
0.00001
|
|
NM_020686.6(ABAT):c.531G>C (p.Met177Ile)
|
rs779411867
|
0.00001
|
|
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)
|
rs746589996
|
0.00001
|
|
NM_020686.6(ABAT):c.540+13_540+14dup
|
rs765389727
|
0.00001
|
|
NM_020686.6(ABAT):c.541-10A>G
|
rs771274045
|
0.00001
|
|
NM_020686.6(ABAT):c.543C>G (p.Ser181Arg)
|
rs144238624
|
0.00001
|
|
NM_020686.6(ABAT):c.587C>T (p.Thr196Met)
|
rs546024063
|
0.00001
|
|
NM_020686.6(ABAT):c.58C>G (p.Leu20Val)
|
rs747283357
|
0.00001
|
|
NM_020686.6(ABAT):c.60G>A (p.Leu20=)
|
rs768798452
|
0.00001
|
|
NM_020686.6(ABAT):c.619G>A (p.Asp207Asn)
|
rs772498753
|
0.00001
|
|
NM_020686.6(ABAT):c.626G>A (p.Ser209Asn)
|
rs1457964207
|
0.00001
|
|
NM_020686.6(ABAT):c.648G>A (p.Ala216=)
|
rs767550217
|
0.00001
|
|
NM_020686.6(ABAT):c.64G>C (p.Val22Leu)
|
rs762710511
|
0.00001
|
|
NM_020686.6(ABAT):c.657G>C (p.Gly219=)
|
rs1245557067
|
0.00001
|
|
NM_020686.6(ABAT):c.667+20C>T
|
rs376506551
|
0.00001
|
|
NM_020686.6(ABAT):c.680C>G (p.Thr227Ser)
|
rs1223056561
|
0.00001
|
|
NM_020686.6(ABAT):c.70+13G>T
|
rs1282229987
|
0.00001
|
|
NM_020686.6(ABAT):c.70+20A>C
|
rs763704300
|
0.00001
|
|
NM_020686.6(ABAT):c.740C>T (p.Pro247Leu)
|
rs776487124
|
0.00001
|
|
NM_020686.6(ABAT):c.770A>T (p.Glu257Val)
|
rs1377874387
|
0.00001
|
|
NM_020686.6(ABAT):c.783G>C (p.Glu261Asp)
|
rs777951918
|
0.00001
|
|
NM_020686.6(ABAT):c.789A>G (p.Gln263=)
|
rs749392643
|
0.00001
|
|
NM_020686.6(ABAT):c.803G>A (p.Arg268His)
|
rs570490857
|
0.00001
|
|
NM_020686.6(ABAT):c.817-5T>A
|
rs1424382157
|
0.00001
|
|
NM_020686.6(ABAT):c.840T>C (p.Tyr280=)
|
rs1596470323
|
0.00001
|
|
NM_020686.6(ABAT):c.841C>T (p.Arg281Trp)
|
rs755955325
|
0.00001
|
|
NM_020686.6(ABAT):c.874G>A (p.Val292Met)
|
rs747354047
|
0.00001
|
|
NM_020686.6(ABAT):c.954+12G>A
|
rs372226894
|
0.00001
|
|
NM_020686.6(ABAT):c.955-14T>G
|
rs375655134
|
0.00001
|
|
NM_020686.6(ABAT):c.964G>A (p.Ala322Thr)
|
rs201221998
|
0.00001
|
|
NM_020686.6(ABAT):c.975G>A (p.Val325=)
|
rs761480429
|
0.00001
|
|
NM_020686.6(ABAT):c.978C>T (p.Asp326=)
|
rs201727625
|
0.00001
|
|
NM_020686.6(ABAT):c.999C>T (p.Gly333=)
|
rs1353981722
|
0.00001
|
|
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
|
rs760703487
|
0.00001
|
|
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
|
rs759809368
|
0.00001
|
|
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)
|
rs765438239
|
0.00001
|
|
NM_022132.5(MCCC2):c.105G>A (p.Pro35=)
|
rs1365918358
|
0.00001
|
|
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter)
|
rs751393852
|
0.00001
|
|
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=)
|
rs1394757971
|
0.00001
|
|
NM_022132.5(MCCC2):c.1108G>A (p.Val370Ile)
|
rs760363054
|
0.00001
|
|
NM_022132.5(MCCC2):c.1154C>G (p.Thr385Ser)
|
rs1427630056
|
0.00001
|
|
NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)
|
rs750782118
|
0.00001
|
|
NM_022132.5(MCCC2):c.1216+10T>C
|
rs777129152
|
0.00001
|
|
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=)
|
rs375010821
|
0.00001
|
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
|
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
|
rs779770835
|
0.00001
|
|
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg)
|
rs766045910
|
0.00001
|
|
NM_022132.5(MCCC2):c.1374-19C>A
|
rs761903116
|
0.00001
|
|
NM_022132.5(MCCC2):c.1381T>G (p.Phe461Val)
|
rs1747390697
|
0.00001
|
|
NM_022132.5(MCCC2):c.1388A>G (p.Tyr463Cys)
|
rs778734586
|
0.00001
|
|
NM_022132.5(MCCC2):c.13C>T (p.Leu5=)
|
rs954414863
|
0.00001
|
|
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)
|
rs780304038
|
0.00001
|
|
NM_022132.5(MCCC2):c.1430A>G (p.Gln477Arg)
|
rs769558016
|
0.00001
|
|
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met)
|
rs767575019
|
0.00001
|
|
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=)
|
rs1345577961
|
0.00001
|
|
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=)
|
rs201279542
|
0.00001
|
|
NM_022132.5(MCCC2):c.147G>C (p.Met49Ile)
|
rs756664143
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488+9C>T
|
rs1561848361
|
0.00001
|
|
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His)
|
rs745367639
|
0.00001
|
|
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=)
|
rs1747468314
|
0.00001
|
|
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=)
|
rs146674014
|
0.00001
|
|
NM_022132.5(MCCC2):c.1574+7G>T
|
rs766044711
|
0.00001
|
|
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe)
|
rs753443203
|
0.00001
|
|
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val)
|
rs778172446
|
0.00001
|
|
NM_022132.5(MCCC2):c.1688T>C (p.Met563Thr)
|
rs373922744
|
0.00001
|
|
NM_022132.5(MCCC2):c.196+20C>T
|
rs766988420
|
0.00001
|
|
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter)
|
rs1304896406
|
0.00001
|
|
NM_022132.5(MCCC2):c.281+5G>A
|
rs944539388
|
0.00001
|
|
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe)
|
rs748028684
|
0.00001
|
|
NM_022132.5(MCCC2):c.311C>T (p.Ala104Val)
|
rs771719423
|
0.00001
|
|
NM_022132.5(MCCC2):c.326A>G (p.Tyr109Cys)
|
rs1450884624
|
0.00001
|
|
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)
|
rs201872484
|
0.00001
|
|
NM_022132.5(MCCC2):c.336G>A (p.Glu112=)
|
rs1325018619
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+17T>C
|
rs1745350073
|
0.00001
|
|
NM_022132.5(MCCC2):c.383+2del
|
rs1745349463
|
0.00001
|
|
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp)
|
rs1402663229
|
0.00001
|
|
NM_022132.5(MCCC2):c.456A>G (p.Lys152=)
|
rs1409261895
|
0.00001
|
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
|
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr)
|
rs727504009
|
0.00001
|
|
NM_022132.5(MCCC2):c.484C>A (p.Gln162Lys)
|
rs944412136
|
0.00001
|
|
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
|
rs119103222
|
0.00001
|
|
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
|
rs1580281124
|
0.00001
|
|
NM_022132.5(MCCC2):c.51C>G (p.Pro17=)
|
rs1390205513
|
0.00001
|
|
NM_022132.5(MCCC2):c.549T>C (p.Asp183=)
|
rs1400921456
|
0.00001
|
|
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
|
rs774180632
|
0.00001
|
|
NM_022132.5(MCCC2):c.578G>A (p.Arg193His)
|
rs535519604
|
0.00001
|
|
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter)
|
rs764286389
|
0.00001
|
|
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys)
|
rs368906147
|
0.00001
|
|
NM_022132.5(MCCC2):c.624+13G>T
|
rs376190037
|
0.00001
|
|
NM_022132.5(MCCC2):c.625-17G>A
|
rs771274447
|
0.00001
|
|
NM_022132.5(MCCC2):c.627C>T (p.Ile209=)
|
rs777033953
|
0.00001
|
|
NM_022132.5(MCCC2):c.651C>T (p.Thr217=)
|
rs1380948898
|
0.00001
|
|
NM_022132.5(MCCC2):c.657A>C (p.Gly219=)
|
rs1350958601
|
0.00001
|
|
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys)
|
rs753735697
|
0.00001
|
|
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe)
|
rs531567604
|
0.00001
|
|
NM_022132.5(MCCC2):c.736T>C (p.Leu246=)
|
rs1303225809
|
0.00001
|
|
NM_022132.5(MCCC2):c.739-7G>T
|
rs765082065
|
0.00001
|
|
NM_022132.5(MCCC2):c.753T>C (p.Thr251=)
|
rs3736398
|
0.00001
|
|
NM_022132.5(MCCC2):c.798T>C (p.His266=)
|
rs932586663
|
0.00001
|
|
NM_022132.5(MCCC2):c.804-10T>C
|
rs1295275733
|
0.00001
|
|
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly)
|
rs1199145486
|
0.00001
|
|
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)
|
rs119103226
|
0.00001
|
|
NM_022132.5(MCCC2):c.851T>C (p.Leu284Pro)
|
rs376237028
|
0.00001
|
|
NM_022132.5(MCCC2):c.884A>G (p.Asn295Ser)
|
rs1368817393
|
0.00001
|
|
NM_022132.5(MCCC2):c.903+8C>T
|
rs1348079727
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-4G>T
|
rs758885126
|
0.00001
|
|
NM_022132.5(MCCC2):c.904-5T>A
|
rs753258629
|
0.00001
|
|
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)
|
rs727504010
|
0.00001
|
|
NM_025136.4(OPA3):c.120T>C (p.Tyr40=)
|
rs752657560
|
0.00001
|
|
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)
|
rs763083098
|
0.00001
|
|
NM_025136.4(OPA3):c.142+10A>T
|
rs539476253
|
0.00001
|
|
NM_025136.4(OPA3):c.143-6C>T
|
rs760030315
|
0.00001
|
|
NM_025136.4(OPA3):c.143-9C>G
|
rs1342185871
|
0.00001
|
|
NM_025136.4(OPA3):c.197C>T (p.Thr66Met)
|
rs753129998
|
0.00001
|
|
NM_025136.4(OPA3):c.222G>A (p.Glu74=)
|
rs1241138154
|
0.00001
|
|
NM_025136.4(OPA3):c.224C>T (p.Ala75Val)
|
rs769541845
|
0.00001
|
|
NM_025136.4(OPA3):c.237G>C (p.Leu79=)
|
rs943536843
|
0.00001
|
|
NM_025136.4(OPA3):c.252G>A (p.Leu84=)
|
rs757297634
|
0.00001
|
|
NM_025136.4(OPA3):c.255C>T (p.Gly85=)
|
rs951025429
|
0.00001
|
|
NM_025136.4(OPA3):c.305_322dup (p.Gln107_Gln108insArgArgHisGlnAlaGln)
|
rs1599964564
|
0.00001
|
|
NM_025136.4(OPA3):c.354C>T (p.Ala118=)
|
rs745763712
|
0.00001
|
|
NM_025136.4(OPA3):c.355T>A (p.Trp119Arg)
|
rs375471439
|
0.00001
|
|
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys)
|
rs1346674058
|
0.00001
|
|
NM_025136.4(OPA3):c.381C>T (p.Gly127=)
|
rs1405668670
|
0.00001
|
|
NM_025136.4(OPA3):c.404C>G (p.Ala135Gly)
|
rs372640359
|
0.00001
|
|
NM_025136.4(OPA3):c.426G>A (p.Ala142=)
|
rs1289276507
|
0.00001
|
|
NM_025136.4(OPA3):c.441C>G (p.Gly147=)
|
rs1049255184
|
0.00001
|
|
NM_025136.4(OPA3):c.444C>T (p.Ala148=)
|
rs759536853
|
0.00001
|
|
NM_025136.4(OPA3):c.453A>G (p.Glu151=)
|
rs1338422249
|
0.00001
|
|
NM_025136.4(OPA3):c.487C>T (p.Leu163Phe)
|
rs780492515
|
0.00001
|
|
NM_025136.4(OPA3):c.499G>C (p.Gly167Arg)
|
rs1364874488
|
0.00001
|
|
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln)
|
rs779505447
|
0.00001
|
|
NM_025136.4(OPA3):c.508G>A (p.Ala170Thr)
|
rs374639297
|
0.00001
|
|
NM_025136.4(OPA3):c.52C>T (p.Gln18Ter)
|
rs1568413644
|
0.00001
|
|
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr)
|
rs774281852
|
0.00001
|
|
NM_025136.4(OPA3):c.78T>C (p.Arg26=)
|
rs1372988634
|
0.00001
|
|
NM_025136.4(OPA3):c.87G>A (p.Glu29=)
|
rs1194417590
|
0.00001
|
|
NM_030813.6(CLPB):c.688T>C (p.Trp230Arg)
|
rs749611577
|
0.00001
|
|
NM_030813.6(CLPB):c.690G>A (p.Trp230Ter)
|
rs780554501
|
0.00001
|
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
|
NM_032601.4(MCEE):c.120T>C (p.Gly40=)
|
rs373053776
|
0.00001
|
|
NM_032861.4(SERAC1):c.1016-5A>G
|
rs1321114507
|
0.00001
|
|
NM_032861.4(SERAC1):c.1102C>T (p.Arg368Ter)
|
rs758745099
|
0.00001
|
|
NM_032861.4(SERAC1):c.1169A>G (p.Gln390Arg)
|
rs779061767
|
0.00001
|
|
NM_032861.4(SERAC1):c.1295C>T (p.Thr432Met)
|
rs780982964
|
0.00001
|
|
NM_032861.4(SERAC1):c.1403+5C>G
|
rs770722498
|
0.00001
|
|
NM_032861.4(SERAC1):c.1501+6T>G
|
rs760987565
|
0.00001
|
|
NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)
|
rs751450632
|
0.00001
|
|
NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)
|
rs201367107
|
0.00001
|
|
NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)
|
rs1219406942
|
0.00001
|
|
NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)
|
rs1398045297
|
0.00001
|
|
NM_032861.4(SERAC1):c.1685-12A>G
|
rs1327940001
|
0.00001
|
|
NM_032861.4(SERAC1):c.1685-3C>T
|
rs367733861
|
0.00001
|
|
NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)
|
rs1478893955
|
0.00001
|
|
NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)
|
rs756012789
|
0.00001
|
|
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
|
rs1020569740
|
0.00001
|
|
NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)
|
rs575982148
|
0.00001
|
|
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs)
|
rs797045105
|
0.00001
|
|
NM_032861.4(SERAC1):c.285A>G (p.Arg95=)
|
rs752918334
|
0.00001
|
|
NM_032861.4(SERAC1):c.326C>T (p.Ser109Leu)
|
rs1258024323
|
0.00001
|
|
NM_032861.4(SERAC1):c.387T>C (p.His129=)
|
rs781658698
|
0.00001
|
|
NM_032861.4(SERAC1):c.487+12A>G
|
rs531094036
|
0.00001
|
|
NM_032861.4(SERAC1):c.525G>A (p.Pro175=)
|
rs774652383
|
0.00001
|
|
NM_032861.4(SERAC1):c.677G>T (p.Cys226Phe)
|
rs1243289662
|
0.00001
|
|
NM_032861.4(SERAC1):c.738+7T>C
|
rs1784954711
|
0.00001
|
|
NM_032861.4(SERAC1):c.87T>G (p.Asp29Glu)
|
rs1404505029
|
0.00001
|
|
NM_052845.4(MMAB):c.135-4T>C
|
rs1025409144
|
0.00001
|
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
|
NM_052845.4(MMAB):c.255C>T (p.Ala85=)
|
rs894225131
|
0.00001
|
|
NM_052845.4(MMAB):c.348+10_348+13del
|
rs775340018
|
0.00001
|
|
NM_052845.4(MMAB):c.348+7A>G
|
rs769138883
|
0.00001
|
|
NM_052845.4(MMAB):c.348+9C>T
|
rs747459155
|
0.00001
|
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
|
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
|
rs1393235772
|
0.00001
|
|
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
|
rs1055749855
|
0.00001
|
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
|
NM_052845.4(MMAB):c.422-6C>T
|
rs759110803
|
0.00001
|
|
NM_052845.4(MMAB):c.423G>A (p.Lys141=)
|
rs1474862262
|
0.00001
|
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
|
NM_052845.4(MMAB):c.432G>C (p.Thr144=)
|
rs200127370
|
0.00001
|
|
NM_052845.4(MMAB):c.451C>T (p.Leu151=)
|
rs1884202824
|
0.00001
|
|
NM_052845.4(MMAB):c.456G>A (p.Glu152=)
|
rs1884202411
|
0.00001
|
|
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
|
rs767045171
|
0.00001
|
|
NM_052845.4(MMAB):c.465G>A (p.Gln155=)
|
rs1323701026
|
0.00001
|
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
0.00001
|
|
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
|
rs138069953
|
0.00001
|
|
NM_052845.4(MMAB):c.540G>A (p.Ser180=)
|
rs754311573
|
0.00001
|
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
|
NM_052845.4(MMAB):c.615C>T (p.Thr205=)
|
rs760629956
|
0.00001
|
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
|
NM_052845.4(MMAB):c.645-8C>G
|
rs1251570137
|
0.00001
|
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
|
NM_054012.4(ASS1):c.-5-10C>G
|
rs375136377
|
0.00001
|
|
NM_054012.4(ASS1):c.1014C>T (p.Ile338=)
|
rs749554993
|
0.00001
|
|
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter)
|
rs786204537
|
0.00001
|
|
NM_054012.4(ASS1):c.105+14C>T
|
rs750278093
|
0.00001
|
|
NM_054012.4(ASS1):c.1051G>A (p.Val351Met)
|
rs773909247
|
0.00001
|
|
NM_054012.4(ASS1):c.1053G>A (p.Val351=)
|
rs761241799
|
0.00001
|
|
NM_054012.4(ASS1):c.1074G>A (p.Val358=)
|
rs1256882753
|
0.00001
|
|
NM_054012.4(ASS1):c.1075T>C (p.Tyr359His)
|
rs1262020902
|
0.00001
|
|
NM_054012.4(ASS1):c.1083C>T (p.Leu361=)
|
rs78564724
|
0.00001
|
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
|
NM_054012.4(ASS1):c.1117G>T (p.Glu373Ter)
|
rs1453708640
|
0.00001
|
|
NM_054012.4(ASS1):c.1127+8C>T
|
rs1231262490
|
0.00001
|
|
NM_054012.4(ASS1):c.1167C>T (p.Thr389=)
|
rs772796860
|
0.00001
|
|
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu)
|
rs1554725724
|
0.00001
|
|
NM_054012.4(ASS1):c.1194-10del
|
rs778919653
|
0.00001
|
|
NM_054012.4(ASS1):c.1197G>A (p.Leu399=)
|
rs1342431625
|
0.00001
|
|
NM_054012.4(ASS1):c.174+11G>A
|
rs771403927
|
0.00001
|
|
NM_054012.4(ASS1):c.174+1G>T
|
rs748264993
|
0.00001
|
|
NM_054012.4(ASS1):c.175-1119G>A
|
rs1488840592
|
0.00001
|
|
NM_054012.4(ASS1):c.183T>C (p.Ile61=)
|
rs1036284939
|
0.00001
|
|
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)
|
rs771594651
|
0.00001
|
|
NM_054012.4(ASS1):c.210G>A (p.Glu70=)
|
rs1465915503
|
0.00001
|
|
NM_054012.4(ASS1):c.225G>A (p.Pro75=)
|
rs765933359
|
0.00001
|
|
NM_054012.4(ASS1):c.246G>A (p.Leu82=)
|
rs757342268
|
0.00001
|
|
NM_054012.4(ASS1):c.247T>C (p.Tyr83His)
|
rs753659761
|
0.00001
|
|
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys)
|
rs121908644
|
0.00001
|
|
NM_054012.4(ASS1):c.257G>A (p.Arg86His)
|
rs575001023
|
0.00001
|
|
NM_054012.4(ASS1):c.261C>T (p.Tyr87=)
|
rs749648285
|
0.00001
|
|
NM_054012.4(ASS1):c.315C>T (p.Ile105=)
|
rs953220613
|
0.00001
|
|
NM_054012.4(ASS1):c.349G>A (p.Gly117Ser)
|
rs770944877
|
0.00001
|
|
NM_054012.4(ASS1):c.369C>T (p.Asn123=)
|
rs761616623
|
0.00001
|
|
NM_054012.4(ASS1):c.370G>A (p.Asp124Asn)
|
rs936192871
|
0.00001
|
|
NM_054012.4(ASS1):c.380G>A (p.Arg127Gln)
|
rs201623252
|
0.00001
|
|
NM_054012.4(ASS1):c.390C>G (p.Leu130=)
|
rs760943587
|
0.00001
|
|
NM_054012.4(ASS1):c.39C>T (p.Gly13=)
|
rs769672308
|
0.00001
|
|
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser)
|
rs121908636
|
0.00001
|
|
NM_054012.4(ASS1):c.423C>G (p.Val141=)
|
rs887468647
|
0.00001
|
|
NM_054012.4(ASS1):c.430C>T (p.Pro144Ser)
|
rs769831651
|
0.00001
|
|
NM_054012.4(ASS1):c.438G>A (p.Arg146=)
|
rs1180017518
|
0.00001
|
|
NM_054012.4(ASS1):c.513C>T (p.Ile171=)
|
rs1322818918
|
0.00001
|
|
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)
|
rs121908643
|
0.00001
|
|
NM_054012.4(ASS1):c.54G>A (p.Ser18=)
|
rs768923973
|
0.00001
|
|
NM_054012.4(ASS1):c.556A>G (p.Met186Val)
|
rs1845851030
|
0.00001
|
|
NM_054012.4(ASS1):c.561C>T (p.His187=)
|
rs1403877099
|
0.00001
|
|
NM_054012.4(ASS1):c.566+20C>T
|
rs572425289
|
0.00001
|
|
NM_054012.4(ASS1):c.566+9C>A
|
rs1445034997
|
0.00001
|
|
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg)
|
rs1311437424
|
0.00001
|
|
NM_054012.4(ASS1):c.606G>A (p.Ala202=)
|
rs747850211
|
0.00001
|
|
NM_054012.4(ASS1):c.63C>T (p.Leu21=)
|
rs774476997
|
0.00001
|
|
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp)
|
rs1043964127
|
0.00001
|
|
NM_054012.4(ASS1):c.656C>A (p.Thr219Asn)
|
rs769538241
|
0.00001
|
|
NM_054012.4(ASS1):c.669C>T (p.Leu223=)
|
rs763203138
|
0.00001
|
|
NM_054012.4(ASS1):c.688+13C>T
|
rs1179330591
|
0.00001
|
|
NM_054012.4(ASS1):c.688+7G>T
|
rs1846038006
|
0.00001
|
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
|
NM_054012.4(ASS1):c.711C>T (p.Asn237=)
|
rs779981831
|
0.00001
|
|
NM_054012.4(ASS1):c.712G>A (p.Val238Ile)
|
rs368414392
|
0.00001
|
|
NM_054012.4(ASS1):c.771C>T (p.Val257=)
|
rs547904731
|
0.00001
|
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
|
NM_054012.4(ASS1):c.793C>T (p.Arg265Cys)
|
rs148918985
|
0.00001
|
|
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)
|
rs775163147
|
0.00001
|
|
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter)
|
rs121908645
|
0.00001
|
|
NM_054012.4(ASS1):c.838+1G>T
|
rs750214431
|
0.00001
|
|
NM_054012.4(ASS1):c.838+9G>A
|
rs760468184
|
0.00001
|
|
NM_054012.4(ASS1):c.839-6G>C
|
rs766187530
|
0.00001
|
|
NM_054012.4(ASS1):c.84C>A (p.Gly28=)
|
rs1386337873
|
0.00001
|
|
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)
|
rs886039853
|
0.00001
|
|
NM_054012.4(ASS1):c.889A>G (p.Ile297Val)
|
rs757629975
|
0.00001
|
|
NM_054012.4(ASS1):c.891C>T (p.Ile297=)
|
rs200900381
|
0.00001
|
|
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys)
|
rs1372482894
|
0.00001
|
|
NM_054012.4(ASS1):c.893A>G (p.Glu298Gly)
|
rs372061654
|
0.00001
|
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
|
NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)
|
rs121908648
|
0.00001
|
|
NM_054012.4(ASS1):c.960G>A (p.Leu320=)
|
rs752064358
|
0.00001
|
|
NM_054012.4(ASS1):c.965A>G (p.Tyr322Cys)
|
rs373473841
|
0.00001
|
|
NM_054012.4(ASS1):c.970+4C>T
|
rs1460424492
|
0.00001
|
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
|
NM_054012.4(ASS1):c.990G>A (p.Glu330=)
|
rs746549187
|
0.00001
|
|
NM_058179.4(PSAT1):c.1005T>C (p.His335=)
|
rs200973599
|
0.00001
|
|
NM_058179.4(PSAT1):c.1007+13G>A
|
rs1057515672
|
0.00001
|
|
NM_058179.4(PSAT1):c.1007+5G>A
|
rs747514463
|
0.00001
|
|
NM_058179.4(PSAT1):c.1094T>G (p.Leu365Trp)
|
rs758027795
|
0.00001
|
|
NM_058179.4(PSAT1):c.1103A>G (p.His368Arg)
|
rs781632079
|
0.00001
|
|
NM_058179.4(PSAT1):c.142G>A (p.Asp48Asn)
|
rs752037444
|
0.00001
|
|
NM_058179.4(PSAT1):c.151A>C (p.Lys51Gln)
|
rs759948216
|
0.00001
|
|
NM_058179.4(PSAT1):c.153G>T (p.Lys51Asn)
|
rs768121356
|
0.00001
|
|
NM_058179.4(PSAT1):c.166A>G (p.Thr56Ala)
|
rs1465646885
|
0.00001
|
|
NM_058179.4(PSAT1):c.170A>G (p.Glu57Gly)
|
rs754006053
|
0.00001
|
|
NM_058179.4(PSAT1):c.173A>G (p.Asn58Ser)
|
rs757471190
|
0.00001
|
|
NM_058179.4(PSAT1):c.192-14A>C
|
rs765489661
|
0.00001
|
|
NM_058179.4(PSAT1):c.211A>G (p.Lys71Glu)
|
rs1828155986
|
0.00001
|
|
NM_058179.4(PSAT1):c.225G>T (p.Leu75=)
|
rs377756778
|
0.00001
|
|
NM_058179.4(PSAT1):c.241G>A (p.Gly81Ser)
|
rs745532660
|
0.00001
|
|
NM_058179.4(PSAT1):c.261C>T (p.Pro87=)
|
rs909218310
|
0.00001
|
|
NM_058179.4(PSAT1):c.270C>T (p.Leu90=)
|
rs775726256
|
0.00001
|
|
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)
|
rs118203967
|
0.00001
|
|
NM_058179.4(PSAT1):c.328A>C (p.Lys110Gln)
|
rs753331548
|
0.00001
|
|
NM_058179.4(PSAT1):c.335C>T (p.Ala112Val)
|
rs778303528
|
0.00001
|
|
NM_058179.4(PSAT1):c.33G>T (p.Gly11=)
|
rs767502606
|
0.00001
|
|
NM_058179.4(PSAT1):c.369C>T (p.Ile123=)
|
rs762328288
|
0.00001
|
|
NM_058179.4(PSAT1):c.373C>T (p.His125Tyr)
|
rs997904439
|
0.00001
|
|
NM_058179.4(PSAT1):c.456C>T (p.Cys152=)
|
rs376944831
|
0.00001
|
|
NM_058179.4(PSAT1):c.498C>T (p.Pro166=)
|
rs746877540
|
0.00001
|
|
NM_058179.4(PSAT1):c.499G>A (p.Asp167Asn)
|
rs767197857
|
0.00001
|
|
NM_058179.4(PSAT1):c.516A>G (p.Val172=)
|
rs749688642
|
0.00001
|
|
NM_058179.4(PSAT1):c.570+13A>G
|
rs962259327
|
0.00001
|
|
NM_058179.4(PSAT1):c.607G>C (p.Gly203Arg)
|
rs1253727919
|
0.00001
|
|
NM_058179.4(PSAT1):c.649C>G (p.Leu217Val)
|
rs771502157
|
0.00001
|
|
NM_058179.4(PSAT1):c.677C>T (p.Ser226Leu)
|
rs1479566156
|
0.00001
|
|
NM_058179.4(PSAT1):c.706A>C (p.Asn236His)
|
rs138085071
|
0.00001
|
|
NM_058179.4(PSAT1):c.813C>T (p.Ser271=)
|
rs747711253
|
0.00001
|
|
NM_058179.4(PSAT1):c.826C>G (p.Gln276Glu)
|
rs748962329
|
0.00001
|
|
NM_058179.4(PSAT1):c.851A>G (p.Asn284Ser)
|
rs760073635
|
0.00001
|
|
NM_058179.4(PSAT1):c.863T>G (p.Phe288Cys)
|
rs553281141
|
0.00001
|
|
NM_058179.4(PSAT1):c.866A>C (p.Tyr289Ser)
|
rs1828370991
|
0.00001
|
|
NM_058179.4(PSAT1):c.867C>T (p.Tyr289=)
|
rs189310401
|
0.00001
|
|
NM_058179.4(PSAT1):c.870-16T>C
|
rs746255855
|
0.00001
|
|
NM_058179.4(PSAT1):c.871T>C (p.Cys291Arg)
|
rs573647836
|
0.00001
|
|
NM_058179.4(PSAT1):c.877G>A (p.Val293Met)
|
rs1271264402
|
0.00001
|
|
NM_058179.4(PSAT1):c.879G>A (p.Val293=)
|
rs762084954
|
0.00001
|
|
NM_058179.4(PSAT1):c.889A>G (p.Asn297Asp)
|
rs1198065787
|
0.00001
|
|
NM_058179.4(PSAT1):c.976G>T (p.Glu326Ter)
|
rs199998249
|
0.00001
|
|
NM_145261.4(DNAJC19):c.105A>G (p.Gln35=)
|
rs1400868784
|
0.00001
|
|
NM_145261.4(DNAJC19):c.129+11G>T
|
rs546533068
|
0.00001
|
|
NM_145261.4(DNAJC19):c.130-1G>C
|
rs137854888
|
0.00001
|
|
NM_145261.4(DNAJC19):c.142G>A (p.Gly48Ser)
|
rs781284254
|
0.00001
|
|
NM_145261.4(DNAJC19):c.167C>A (p.Pro56His)
|
rs1714943164
|
0.00001
|
|
NM_145261.4(DNAJC19):c.202G>A (p.Gly68Ser)
|
rs754317673
|
0.00001
|
|
NM_145261.4(DNAJC19):c.210-19C>T
|
rs780397593
|
0.00001
|
|
NM_145261.4(DNAJC19):c.280+16A>T
|
rs773185733
|
0.00001
|
|
NM_145261.4(DNAJC19):c.295A>G (p.Ile99Val)
|
rs762783413
|
0.00001
|
|
NM_145261.4(DNAJC19):c.326T>C (p.Leu109Ser)
|
rs200732155
|
0.00001
|
|
NM_145261.4(DNAJC19):c.344A>G (p.Lys115Arg)
|
rs1253268997
|
0.00001
|
|
NM_145261.4(DNAJC19):c.348A>G (p.Lys116=)
|
rs771098271
|
0.00001
|
|
NM_145261.4(DNAJC19):c.62dup (p.Tyr21Ter)
|
rs1560040369
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
|
rs747338801
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1008T>A (p.Gly336=)
|
rs748217780
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1012+10T>A
|
rs372410947
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1013-12T>G
|
rs199736308
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1045C>T (p.Leu349=)
|
rs767921078
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile)
|
rs1200184747
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)
|
rs1476919967
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
|
rs1401712530
|
0.00001
|
|
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
|
rs1465935790
|
0.00001
|
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1129-2A>T
|
rs749568919
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1129-5C>T
|
rs1220052687
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1129-7C>T
|
rs756262049
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1155C>T (p.Asp385=)
|
rs768343523
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met)
|
rs370653879
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1161G>A (p.Thr387=)
|
rs761414980
|
0.00001
|
|
NM_152419.3(HGSNAT):c.118+10C>A
|
rs768117824
|
0.00001
|
|
NM_152419.3(HGSNAT):c.118+1G>A
|
rs1324229618
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe)
|
rs1425393733
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile)
|
rs1410211396
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
|
rs779284289
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
|
rs1804531287
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1251-16C>G
|
rs371770607
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
|
rs748987930
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
|
rs759417010
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val)
|
rs1016164503
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
|
rs771455190
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
|
rs376647117
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1368A>G (p.Pro456=)
|
rs1411732379
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1377+7G>C
|
rs1225445756
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=)
|
rs767972481
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
|
rs779933668
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1465-14G>A
|
rs1484663572
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val)
|
rs766052009
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)
|
rs747240928
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser)
|
rs762252722
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1543-20C>A
|
rs201435854
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1543-7A>G
|
rs781471935
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
|
rs1440154264
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)
|
rs121908286
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu)
|
rs1804772048
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
|
rs757706222
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1669C>T (p.Leu557=)
|
rs761500930
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
|
rs752785040
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1727-13C>G
|
rs747875081
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1727-17A>G
|
rs780686580
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
|
rs1163166400
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
|
rs1249488528
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
|
rs769449292
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
|
rs776791119
|
0.00001
|
|
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)
|
rs1304780108
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr)
|
rs1240119393
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys)
|
rs773631016
|
0.00001
|
|
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
|
rs1804852687
|
0.00001
|
|
NM_152419.3(HGSNAT):c.234+10A>T
|
rs1802742419
|
0.00001
|
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
|
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
|
rs760790643
|
0.00001
|
|
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
|
rs772299811
|
0.00001
|
|
NM_152419.3(HGSNAT):c.261T>A (p.Val87=)
|
rs1461875540
|
0.00001
|
|
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=)
|
rs766369405
|
0.00001
|
|
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
|
rs755833800
|
0.00001
|
|
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
|
rs1427202401
|
0.00001
|
|
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
|
rs768887468
|
0.00001
|
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
|
NM_152419.3(HGSNAT):c.360A>G (p.Lys120=)
|
rs200079240
|
0.00001
|
|
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
|
rs1803172362
|
0.00001
|
|
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
|
rs1258501549
|
0.00001
|
|
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
|
rs1335563220
|
0.00001
|
|
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
|
rs1051098032
|
0.00001
|
|
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
|
rs1399122628
|
0.00001
|
|
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
|
rs763777880
|
0.00001
|
|
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
|
rs1351688097
|
0.00001
|
|
NM_152419.3(HGSNAT):c.486T>C (p.Ser162=)
|
rs1803185644
|
0.00001
|
|
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
|
rs1802479958
|
0.00001
|
|
NM_152419.3(HGSNAT):c.493+4C>T
|
rs372471081
|
0.00001
|
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
|
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
|
rs752128693
|
0.00001
|
|
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
|
rs953533399
|
0.00001
|
|
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
|
rs1408418542
|
0.00001
|
|
NM_152419.3(HGSNAT):c.563+7T>C
|
rs756465413
|
0.00001
|
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
|
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn)
|
rs763403091
|
0.00001
|
|
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter)
|
rs1563366896
|
0.00001
|
|
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
|
rs1251787808
|
0.00001
|
|
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
|
rs199861011
|
0.00001
|
|
NM_152419.3(HGSNAT):c.64C>T (p.Leu22=)
|
rs1164054537
|
0.00001
|
|
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
|
rs1803591916
|
0.00001
|
|
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
|
rs1358373785
|
0.00001
|
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
|
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His)
|
rs371869844
|
0.00001
|
|
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu)
|
rs1218261294
|
0.00001
|
|
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His)
|
rs1231838743
|
0.00001
|
|
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
|
rs181728385
|
0.00001
|
|
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
|
rs997906795
|
0.00001
|
|
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile)
|
rs751701983
|
0.00001
|
|
NM_152419.3(HGSNAT):c.777T>C (p.Tyr259=)
|
rs376365655
|
0.00001
|
|
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
|
rs1387365931
|
0.00001
|
|
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=)
|
rs1277158595
|
0.00001
|
|
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe)
|
rs1245295975
|
0.00001
|
|
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
|
rs1287447019
|
0.00001
|
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
|
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
|
rs368058038
|
0.00001
|
|
NM_152419.3(HGSNAT):c.851+7T>G
|
rs756810802
|
0.00001
|
|
NM_152419.3(HGSNAT):c.851+9C>T
|
rs755549867
|
0.00001
|
|
NM_152419.3(HGSNAT):c.852-2A>C
|
rs755710040
|
0.00001
|
|
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
|
rs777146364
|
0.00001
|
|
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
|
rs200637619
|
0.00001
|
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
|
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=)
|
rs780309535
|
0.00001
|
|
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)
|
rs1490698793
|
0.00001
|
|
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=)
|
rs1358940142
|
0.00001
|
|
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
|
rs1446334240
|
0.00001
|
|
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
|
rs1241816731
|
0.00001
|
|
NM_152542.5(PPM1K):c.1080A>G (p.Ser360=)
|
rs746316294
|
0.00001
|
|
NM_152542.5(PPM1K):c.475C>G (p.Leu159Val)
|
rs147734869
|
0.00001
|
|
NM_152542.5(PPM1K):c.48G>T (p.Gln16His)
|
rs775889692
|
0.00001
|
|
NM_152542.5(PPM1K):c.525C>T (p.Ala175=)
|
rs778580842
|
0.00001
|
|
NM_152542.5(PPM1K):c.542-3T>C
|
rs534271377
|
0.00001
|
|
NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln)
|
rs1175714323
|
0.00001
|
|
NM_152542.5(PPM1K):c.601C>G (p.Leu201Val)
|
rs1731442831
|
0.00001
|
|
NM_152542.5(PPM1K):c.66G>A (p.Leu22=)
|
rs1731887392
|
0.00001
|
|
NM_152542.5(PPM1K):c.730G>A (p.Val244Ile)
|
rs1014204002
|
0.00001
|
|
NM_152542.5(PPM1K):c.988-7C>G
|
rs1335866068
|
0.00001
|
|
NM_153006.3(NAGS):c.1000C>A (p.Arg334=)
|
rs201310602
|
0.00001
|
|
NM_153006.3(NAGS):c.1025del (p.Arg342fs)
|
rs730880266
|
0.00001
|
|
NM_153006.3(NAGS):c.1047C>T (p.Ala349=)
|
rs1401837626
|
0.00001
|
|
NM_153006.3(NAGS):c.1096+9G>A
|
rs1194405418
|
0.00001
|
|
NM_153006.3(NAGS):c.1101C>T (p.Ser367=)
|
rs777811683
|
0.00001
|
|
NM_153006.3(NAGS):c.1110G>C (p.Leu370=)
|
rs1597866171
|
0.00001
|
|
NM_153006.3(NAGS):c.1113C>A (p.Phe371Leu)
|
rs755872617
|
0.00001
|
|
NM_153006.3(NAGS):c.1191C>T (p.Ala397=)
|
rs764654474
|
0.00001
|
|
NM_153006.3(NAGS):c.1197C>T (p.Phe399=)
|
rs751627477
|
0.00001
|
|
NM_153006.3(NAGS):c.1204A>C (p.Lys402Gln)
|
rs984226051
|
0.00001
|
|
NM_153006.3(NAGS):c.1222C>T (p.Leu408=)
|
rs1418116310
|
0.00001
|
|
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met)
|
rs199923863
|
0.00001
|
|
NM_153006.3(NAGS):c.1242G>A (p.Arg414=)
|
rs754959332
|
0.00001
|
|
NM_153006.3(NAGS):c.1257C>T (p.Tyr419=)
|
rs1235142426
|
0.00001
|
|
NM_153006.3(NAGS):c.1270T>A (p.Tyr424Asn)
|
rs1555620800
|
0.00001
|
|
NM_153006.3(NAGS):c.1272C>G (p.Tyr424Ter)
|
rs1214956593
|
0.00001
|
|
NM_153006.3(NAGS):c.1283C>T (p.Ala428Val)
|
rs1160426864
|
0.00001
|
|
NM_153006.3(NAGS):c.1299G>A (p.Glu433=)
|
rs104894607
|
0.00001
|
|
NM_153006.3(NAGS):c.1317C>T (p.Thr439=)
|
rs1483196926
|
0.00001
|
|
NM_153006.3(NAGS):c.1452-4C>G
|
rs749449489
|
0.00001
|
|
NM_153006.3(NAGS):c.154G>T (p.Ala52Ser)
|
rs1473994582
|
0.00001
|
|
NM_153006.3(NAGS):c.1551C>T (p.His517=)
|
rs757631705
|
0.00001
|
|
NM_153006.3(NAGS):c.1563G>A (p.Leu521=)
|
rs368798366
|
0.00001
|
|
NM_153006.3(NAGS):c.1597G>A (p.Gly533Ser)
|
rs139304608
|
0.00001
|
|
NM_153006.3(NAGS):c.180C>A (p.Pro60=)
|
rs1295356207
|
0.00001
|
|
NM_153006.3(NAGS):c.216G>T (p.Ser72=)
|
rs891726101
|
0.00001
|
|
NM_153006.3(NAGS):c.251C>T (p.Pro84Leu)
|
rs1381894842
|
0.00001
|
|
NM_153006.3(NAGS):c.273G>A (p.Glu91=)
|
rs1302576935
|
0.00001
|
|
NM_153006.3(NAGS):c.297C>T (p.Arg99=)
|
rs1381024708
|
0.00001
|
|
NM_153006.3(NAGS):c.303G>T (p.Leu101=)
|
rs986684848
|
0.00001
|
|
NM_153006.3(NAGS):c.34G>A (p.Ala12Thr)
|
rs759453873
|
0.00001
|
|
NM_153006.3(NAGS):c.351T>G (p.Pro117=)
|
rs1214682844
|
0.00001
|
|
NM_153006.3(NAGS):c.427-222G>A
|
rs2049072767
|
0.00001
|
|
NM_153006.3(NAGS):c.42T>C (p.Ala14=)
|
rs752217893
|
0.00001
|
|
NM_153006.3(NAGS):c.450C>T (p.Cys150=)
|
rs750572927
|
0.00001
|
|
NM_153006.3(NAGS):c.459C>T (p.Gly153=)
|
rs1259861627
|
0.00001
|
|
NM_153006.3(NAGS):c.51G>A (p.Pro17=)
|
rs1009436443
|
0.00001
|
|
NM_153006.3(NAGS):c.585G>A (p.Gln195=)
|
rs1418200676
|
0.00001
|
|
NM_153006.3(NAGS):c.618G>A (p.Ala206=)
|
rs767680440
|
0.00001
|
|
NM_153006.3(NAGS):c.645G>T (p.Val215=)
|
rs766418377
|
0.00001
|
|
NM_153006.3(NAGS):c.675C>A (p.Arg225=)
|
rs1436648834
|
0.00001
|
|
NM_153006.3(NAGS):c.687G>T (p.Pro229=)
|
rs1319985208
|
0.00001
|
|
NM_153006.3(NAGS):c.696T>C (p.His232=)
|
rs1268332465
|
0.00001
|
|
NM_153006.3(NAGS):c.701+11G>A
|
rs1206538981
|
0.00001
|
|
NM_153006.3(NAGS):c.708C>A (p.Gly236=)
|
rs202223128
|
0.00001
|
|
NM_153006.3(NAGS):c.714C>T (p.Ile238=)
|
rs751366509
|
0.00001
|
|
NM_153006.3(NAGS):c.721G>T (p.Val241Leu)
|
rs899402990
|
0.00001
|
|
NM_153006.3(NAGS):c.795C>T (p.Ala265=)
|
rs763221725
|
0.00001
|
|
NM_153006.3(NAGS):c.81C>A (p.Gly27=)
|
rs1473496570
|
0.00001
|
|
NM_153006.3(NAGS):c.837G>A (p.Ala279=)
|
rs778475082
|
0.00001
|
|
NM_153006.3(NAGS):c.853C>T (p.Leu285=)
|
rs746317425
|
0.00001
|
|
NM_153006.3(NAGS):c.858G>A (p.Arg286=)
|
rs373673751
|
0.00001
|
|
NM_153006.3(NAGS):c.879C>G (p.Leu293=)
|
rs1236291283
|
0.00001
|
|
NM_153006.3(NAGS):c.897G>A (p.Leu299=)
|
rs1453345879
|
0.00001
|
|
NM_153006.3(NAGS):c.915+10T>C
|
rs780755353
|
0.00001
|
|
NM_153006.3(NAGS):c.915+18A>G
|
rs1470219186
|
0.00001
|
|
NM_153006.3(NAGS):c.915+6_915+7insAA
|
rs745844473
|
0.00001
|
|
NM_153006.3(NAGS):c.916-9C>T
|
rs1162697855
|
0.00001
|
|
NM_153006.3(NAGS):c.927C>T (p.Asn309=)
|
rs551054997
|
0.00001
|
|
NM_153006.3(NAGS):c.942C>T (p.Ala314=)
|
rs1226554229
|
0.00001
|
|
NM_153006.3(NAGS):c.975G>A (p.Val325=)
|
rs770676572
|
0.00001
|
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
|
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
|
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
|
rs1010401774
|
0.00001
|
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
|
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
|
rs1191388669
|
0.00001
|
|
NM_172250.3(MMAA):c.15A>G (p.Leu5=)
|
rs755914586
|
0.00001
|
|
NM_172250.3(MMAA):c.177T>C (p.Asp59=)
|
rs1727713075
|
0.00001
|
|
NM_172250.3(MMAA):c.258G>A (p.Val86=)
|
rs1240108337
|
0.00001
|
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
|
NM_172250.3(MMAA):c.336C>T (p.His112=)
|
rs771388415
|
0.00001
|
|
NM_172250.3(MMAA):c.33T>C (p.His11=)
|
rs370983676
|
0.00001
|
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
|
NM_172250.3(MMAA):c.440-5C>T
|
rs759611574
|
0.00001
|
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
|
NM_172250.3(MMAA):c.563-9A>G
|
rs1361037765
|
0.00001
|
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
|
NM_172250.3(MMAA):c.651dup (p.Gly218fs)
|
rs1314623572
|
0.00001
|
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
|
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
|
rs781525637
|
0.00001
|
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
|
NM_172250.3(MMAA):c.734-8A>G
|
rs778057240
|
0.00001
|
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
|
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
|
rs781124654
|
0.00001
|
|
NM_172250.3(MMAA):c.756del (p.Val253fs)
|
rs1489525542
|
0.00001
|
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
|
NM_172250.3(MMAA):c.795A>C (p.Pro265=)
|
rs767934772
|
0.00001
|
|
NM_172250.3(MMAA):c.819+10T>A
|
rs1202834297
|
0.00001
|
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
|
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
|
rs750509072
|
0.00001
|
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
|
NM_172250.3(MMAA):c.891G>A (p.Val297=)
|
rs1315370286
|
0.00001
|
|
NM_172250.3(MMAA):c.927A>G (p.Ala309=)
|
rs769082931
|
0.00001
|
|
NM_172250.3(MMAA):c.970-7T>C
|
rs770942394
|
0.00001
|
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1002C>A (p.Asp334Glu)
|
rs765942920
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1017C>T (p.Pro339=)
|
rs200365614
|
0.00001
|
|
NM_177550.5(SLC13A5):c.102+8G>C
|
rs765725969
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)
|
rs150203483
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1033G>T (p.Ala345Ser)
|
rs776529961
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1065C>T (p.Ser355=)
|
rs140940366
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1066G>A (p.Asp356Asn)
|
rs151050636
|
0.00001
|
|
NM_177550.5(SLC13A5):c.106G>A (p.Val36Ile)
|
rs1354071715
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1106T>C (p.Ile369Thr)
|
rs773383980
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1125C>T (p.Pro375=)
|
rs1483419923
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1156+15C>G
|
rs367721453
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1163A>G (p.Lys388Arg)
|
rs1423476132
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1166C>T (p.Thr389Ile)
|
rs748877090
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1188G>A (p.Leu396=)
|
rs570830621
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1221C>T (p.Pro407=)
|
rs547474199
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1240C>T (p.Leu414=)
|
rs1206208725
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1272C>T (p.Ser424=)
|
rs368030315
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1276-17C>T
|
rs1973392872
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)
|
rs548065551
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1286T>G (p.Leu429Arg)
|
rs1231356601
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1309A>T (p.Met437Leu)
|
rs980479909
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1318T>C (p.Leu440=)
|
rs1341974633
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1323C>T (p.His441=)
|
rs368369308
|
0.00001
|
|
NM_177550.5(SLC13A5):c.132C>T (p.Leu44=)
|
rs1258344040
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1336G>C (p.Ala446Pro)
|
rs1399161589
|
0.00001
|
|
NM_177550.5(SLC13A5):c.134T>C (p.Met45Thr)
|
rs1208101006
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1396G>A (p.Val466Met)
|
rs750791192
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1407C>A (p.Thr469=)
|
rs1488808458
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1438-18del
|
rs759057646
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1438-5C>T
|
rs368120301
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1454T>G (p.Leu485Arg)
|
rs148049520
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1460C>T (p.Pro487Leu)
|
rs779336736
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1508T>C (p.Met503Thr)
|
rs765088400
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1530A>G (p.Pro510=)
|
rs762703163
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1540G>A (p.Val514Met)
|
rs201089077
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1541T>C (p.Val514Ala)
|
rs776701159
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+10C>A
|
rs576242281
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+12G>A
|
rs748598074
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1575+5C>T
|
rs778223098
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1629T>C (p.Ala543=)
|
rs766561824
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1646G>A (p.Arg549Gln)
|
rs373799811
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1689G>A (p.Val563=)
|
rs1567612268
|
0.00001
|
|
NM_177550.5(SLC13A5):c.1691C>T (p.Thr564Ile)
|
rs771551520
|
0.00001
|
|
NM_177550.5(SLC13A5):c.186G>A (p.Met62Ile)
|
rs144640152
|
0.00001
|
|
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser)
|
rs746055240
|
0.00001
|
|
NM_177550.5(SLC13A5):c.208T>C (p.Phe70Leu)
|
rs1458426377
|
0.00001
|
|
NM_177550.5(SLC13A5):c.264G>A (p.Met88Ile)
|
rs1414544534
|
0.00001
|
|
NM_177550.5(SLC13A5):c.276C>T (p.Gly92=)
|
rs771703938
|
0.00001
|
|
NM_177550.5(SLC13A5):c.279C>G (p.Gly93=)
|
rs1253377106
|
0.00001
|
|
NM_177550.5(SLC13A5):c.292G>A (p.Val98Met)
|
rs529524270
|
0.00001
|
|
NM_177550.5(SLC13A5):c.317A>G (p.His106Arg)
|
rs762062274
|
0.00001
|
|
NM_177550.5(SLC13A5):c.327C>T (p.Ile109=)
|
rs761010502
|
0.00001
|
|
NM_177550.5(SLC13A5):c.335G>A (p.Arg112His)
|
rs772720272
|
0.00001
|
|
NM_177550.5(SLC13A5):c.358A>G (p.Lys120Glu)
|
rs777351597
|
0.00001
|
|
NM_177550.5(SLC13A5):c.361C>A (p.Pro121Thr)
|
rs368701407
|
0.00001
|
|
NM_177550.5(SLC13A5):c.369-13C>T
|
rs1387018006
|
0.00001
|
|
NM_177550.5(SLC13A5):c.369-9C>A
|
rs1301686731
|
0.00001
|
|
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)
|
rs761917087
|
0.00001
|
|
NM_177550.5(SLC13A5):c.453C>T (p.Ile151=)
|
rs144523287
|
0.00001
|
|
NM_177550.5(SLC13A5):c.466T>C (p.Leu156=)
|
rs1284550674
|
0.00001
|
|
NM_177550.5(SLC13A5):c.468G>T (p.Leu156Phe)
|
rs774491349
|
0.00001
|
|
NM_177550.5(SLC13A5):c.490G>A (p.Ala164Thr)
|
rs769026137
|
0.00001
|
|
NM_177550.5(SLC13A5):c.496A>G (p.Thr166Ala)
|
rs1415995914
|
0.00001
|
|
NM_177550.5(SLC13A5):c.516G>A (p.Leu172=)
|
rs1164489091
|
0.00001
|
|
NM_177550.5(SLC13A5):c.52T>C (p.Phe18Leu)
|
rs1249830087
|
0.00001
|
|
NM_177550.5(SLC13A5):c.547+15A>G
|
rs200767134
|
0.00001
|
|
NM_177550.5(SLC13A5):c.547+6C>T
|
rs372687638
|
0.00001
|
|
NM_177550.5(SLC13A5):c.548-2A>G
|
rs966681982
|
0.00001
|
|
NM_177550.5(SLC13A5):c.555A>G (p.Gln185=)
|
rs752221899
|
0.00001
|
|
NM_177550.5(SLC13A5):c.569G>A (p.Gly190Asp)
|
rs766313348
|
0.00001
|
|
NM_177550.5(SLC13A5):c.576T>C (p.Thr192=)
|
rs1274573548
|
0.00001
|
|
NM_177550.5(SLC13A5):c.581G>A (p.Gly194Glu)
|
rs772459786
|
0.00001
|
|
NM_177550.5(SLC13A5):c.618_626dup (p.Ala207_Thr209dup)
|
rs1490001751
|
0.00001
|
|
NM_177550.5(SLC13A5):c.645G>A (p.Ala215=)
|
rs771306101
|
0.00001
|
|
NM_177550.5(SLC13A5):c.650G>A (p.Ser217Asn)
|
rs1200030293
|
0.00001
|
|
NM_177550.5(SLC13A5):c.674C>T (p.Thr225Ile)
|
rs182042247
|
0.00001
|
|
NM_177550.5(SLC13A5):c.689A>G (p.Asn230Ser)
|
rs760650951
|
0.00001
|
|
NM_177550.5(SLC13A5):c.691G>A (p.Val231Met)
|
rs759705331
|
0.00001
|
|
NM_177550.5(SLC13A5):c.699C>T (p.Leu233=)
|
rs200076864
|
0.00001
|
|
NM_177550.5(SLC13A5):c.69G>T (p.Leu23=)
|
rs1280438112
|
0.00001
|
|
NM_177550.5(SLC13A5):c.702G>C (p.Leu234=)
|
rs1353818031
|
0.00001
|
|
NM_177550.5(SLC13A5):c.712A>G (p.Asn238Asp)
|
rs747576233
|
0.00001
|
|
NM_177550.5(SLC13A5):c.717-16C>T
|
rs558529852
|
0.00001
|
|
NM_177550.5(SLC13A5):c.717-6T>C
|
rs779832945
|
0.00001
|
|
NM_177550.5(SLC13A5):c.742G>A (p.Val248Met)
|
rs1295906896
|
0.00001
|
|
NM_177550.5(SLC13A5):c.861C>T (p.Cys287=)
|
rs148018915
|
0.00001
|
|
NM_177550.5(SLC13A5):c.873C>T (p.Ser291=)
|
rs767067775
|
0.00001
|
|
NM_177550.5(SLC13A5):c.901G>A (p.Val301Met)
|
rs1973547380
|
0.00001
|
|
NM_177550.5(SLC13A5):c.942C>T (p.Phe314=)
|
rs546617630
|
0.00001
|
|
NM_177550.5(SLC13A5):c.944C>T (p.Ala315Val)
|
rs138841868
|
0.00001
|
|
NM_177550.5(SLC13A5):c.954C>T (p.Asn318=)
|
rs764495638
|
0.00001
|
|
NM_177550.5(SLC13A5):c.955G>A (p.Val319Met)
|
rs199612064
|
0.00001
|
|
NM_177550.5(SLC13A5):c.970T>C (p.Phe324Leu)
|
rs146116408
|
0.00001
|
|
NM_177550.5(SLC13A5):c.991T>A (p.Phe331Ile)
|
rs142301014
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1023del (p.Ser342fs)
|
rs776270090
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)
|
rs761138547
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1038+2T>C
|
rs762419044
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1039-10C>T
|
rs760262704
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1057C>G (p.Leu353Val)
|
rs398124563
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)
|
rs1304667430
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)
|
rs970365846
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1158T>G (p.Leu386=)
|
rs766392710
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
|
NM_183050.4(BCKDHB):c.152del (p.Val51fs)
|
rs867612284
|
0.00001
|
|
NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)
|
rs534975518
|
0.00001
|
|
NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)
|
rs774916970
|
0.00001
|
|
NM_183050.4(BCKDHB):c.192G>A (p.Glu64=)
|
rs1174539586
|
0.00001
|
|
NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)
|
rs1005542482
|
0.00001
|
|
NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)
|
rs150769284
|
0.00001
|
|
NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)
|
rs558448066
|
0.00001
|
|
NM_183050.4(BCKDHB):c.258C>T (p.Ala86=)
|
rs756064958
|
0.00001
|
|
NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)
|
rs374253889
|
0.00001
|
|
NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala)
|
rs780722473
|
0.00001
|
|
NM_183050.4(BCKDHB):c.274+8T>G
|
rs144531503
|
0.00001
|
|
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)
|
rs398124571
|
0.00001
|
|
NM_183050.4(BCKDHB):c.344-9T>C
|
rs1479038293
|
0.00001
|
|
NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)
|
rs398124575
|
0.00001
|
|
NM_183050.4(BCKDHB):c.393A>T (p.Gly131=)
|
rs934559515
|
0.00001
|
|
NM_183050.4(BCKDHB):c.402C>T (p.Ile134=)
|
rs759881863
|
0.00001
|
|
NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)
|
rs776631396
|
0.00001
|
|
NM_183050.4(BCKDHB):c.43A>C (p.Arg15=)
|
rs781373417
|
0.00001
|
|
NM_183050.4(BCKDHB):c.478-9G>A
|
rs780452994
|
0.00001
|
|
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser)
|
rs398124576
|
0.00001
|
|
NM_183050.4(BCKDHB):c.48G>T (p.Ala16=)
|
rs998893388
|
0.00001
|
|
NM_183050.4(BCKDHB):c.495C>T (p.Ala165=)
|
rs1174061592
|
0.00001
|
|
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)
|
rs398124580
|
0.00001
|
|
NM_183050.4(BCKDHB):c.522T>C (p.Leu174=)
|
rs1191860809
|
0.00001
|
|
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)
|
rs398124582
|
0.00001
|
|
NM_183050.4(BCKDHB):c.555T>C (p.Pro185=)
|
rs749123579
|
0.00001
|
|
NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)
|
rs774306610
|
0.00001
|
|
NM_183050.4(BCKDHB):c.573T>C (p.His191=)
|
rs1280521091
|
0.00001
|
|
NM_183050.4(BCKDHB):c.587A>T (p.His196Leu)
|
rs398124585
|
0.00001
|
|
NM_183050.4(BCKDHB):c.615C>T (p.Ala205=)
|
rs760033819
|
0.00001
|
|
NM_183050.4(BCKDHB):c.633+1G>A
|
rs398124589
|
0.00001
|
|
NM_183050.4(BCKDHB):c.636G>A (p.Val212=)
|
rs968957690
|
0.00001
|
|
NM_183050.4(BCKDHB):c.641T>A (p.Ile214Lys)
|
rs796051940
|
0.00001
|
|
NM_183050.4(BCKDHB):c.672T>G (p.Leu224=)
|
rs1488608145
|
0.00001
|
|
NM_183050.4(BCKDHB):c.676T>C (p.Leu226=)
|
rs1772903772
|
0.00001
|
|
NM_183050.4(BCKDHB):c.743-14T>C
|
rs747561308
|
0.00001
|
|
NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)
|
rs398124593
|
0.00001
|
|
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)
|
rs398124594
|
0.00001
|
|
NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)
|
rs1057516795
|
0.00001
|
|
NM_183050.4(BCKDHB):c.841-9T>G
|
rs774698097
|
0.00001
|
|
NM_183050.4(BCKDHB):c.854G>A (p.Arg285Gln)
|
rs761827220
|
0.00001
|
|
NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)
|
rs765019762
|
0.00001
|
|
NM_183050.4(BCKDHB):c.861A>G (p.Val287=)
|
rs1358699136
|
0.00001
|
|
NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)
|
rs762438504
|
0.00001
|
|
NM_183050.4(BCKDHB):c.882G>A (p.Lys294=)
|
rs1354419202
|
0.00001
|
|
NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)
|
rs370331553
|
0.00001
|
|
NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)
|
rs553058134
|
0.00001
|
|
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)
|
rs398124603
|
0.00001
|
|
NM_183050.4(BCKDHB):c.9T>A (p.Val3=)
|
rs1373155112
|
0.00001
|
|
NM_201253.3(CRB1):c.1023T>C (p.Asn341=)
|
rs1064797127
|
0.00001
|
|
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp)
|
rs144798709
|
0.00001
|
|
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)
|
rs765500601
|
0.00001
|
|
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
|
rs1022182632
|
0.00001
|
|
NM_201253.3(CRB1):c.1116T>C (p.Ser372=)
|
rs764990895
|
0.00001
|
|
NM_201253.3(CRB1):c.1134C>T (p.Ala378=)
|
rs1422765947
|
0.00001
|
|
NM_201253.3(CRB1):c.1143T>C (p.Tyr381=)
|
rs777205072
|
0.00001
|
|
NM_201253.3(CRB1):c.1149dup (p.Ile384fs)
|
rs1660517678
|
0.00001
|
|
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met)
|
rs781656059
|
0.00001
|
|
NM_201253.3(CRB1):c.1161T>G (p.Pro387=)
|
rs746407080
|
0.00001
|
|
NM_201253.3(CRB1):c.1172-12A>G
|
rs146175509
|
0.00001
|
|
NM_201253.3(CRB1):c.1172-3C>G
|
rs937310739
|
0.00001
|
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
|
NM_201253.3(CRB1):c.1227T>G (p.Gly409=)
|
rs903050285
|
0.00001
|
|
NM_201253.3(CRB1):c.1230T>C (p.Gly410=)
|
rs1334956674
|
0.00001
|
|
NM_201253.3(CRB1):c.1236T>C (p.Cys412=)
|
rs1358707398
|
0.00001
|
|
NM_201253.3(CRB1):c.123C>T (p.Asn41=)
|
rs766622294
|
0.00001
|
|
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)
|
rs1254919944
|
0.00001
|
|
NM_201253.3(CRB1):c.132A>G (p.Thr44=)
|
rs754232939
|
0.00001
|
|
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr)
|
rs746597173
|
0.00001
|
|
NM_201253.3(CRB1):c.1389C>A (p.Gly463=)
|
rs985484481
|
0.00001
|
|
NM_201253.3(CRB1):c.1446C>T (p.Ile482=)
|
rs150894028
|
0.00001
|
|
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser)
|
rs777377174
|
0.00001
|
|
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)
|
rs770919155
|
0.00001
|
|
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser)
|
rs139427846
|
0.00001
|
|
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)
|
rs375590765
|
0.00001
|
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
|
NM_201253.3(CRB1):c.1590T>C (p.Asp530=)
|
rs1386404996
|
0.00001
|
|
NM_201253.3(CRB1):c.15C>T (p.Asn5=)
|
rs1184713975
|
0.00001
|
|
NM_201253.3(CRB1):c.1612C>T (p.Leu538=)
|
rs764090396
|
0.00001
|
|
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)
|
rs745464770
|
0.00001
|
|
NM_201253.3(CRB1):c.1656A>T (p.Ser552=)
|
rs774901506
|
0.00001
|
|
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu)
|
rs772386716
|
0.00001
|
|
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)
|
rs769859765
|
0.00001
|
|
NM_201253.3(CRB1):c.1749C>T (p.Ile583=)
|
rs1178650450
|
0.00001
|
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
|
NM_201253.3(CRB1):c.1803T>C (p.Ser601=)
|
rs757974429
|
0.00001
|
|
NM_201253.3(CRB1):c.1818T>C (p.Cys606=)
|
rs371114178
|
0.00001
|
|
NM_201253.3(CRB1):c.1827G>A (p.Gln609=)
|
rs1231765331
|
0.00001
|
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
|
NM_201253.3(CRB1):c.1833C>T (p.Ser611=)
|
rs1474792750
|
0.00001
|
|
NM_201253.3(CRB1):c.1837T>C (p.Leu613=)
|
rs1664331544
|
0.00001
|
|
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp)
|
rs768905244
|
0.00001
|
|
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)
|
rs1450290360
|
0.00001
|
|
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro)
|
rs749411741
|
0.00001
|
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
|
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)
|
rs1457623741
|
0.00001
|
|
NM_201253.3(CRB1):c.1914G>A (p.Ser638=)
|
rs780682072
|
0.00001
|
|
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr)
|
rs1218091828
|
0.00001
|
|
NM_201253.3(CRB1):c.1947T>C (p.Asp649=)
|
rs370486884
|
0.00001
|
|
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu)
|
rs986645649
|
0.00001
|
|
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)
|
rs1457627160
|
0.00001
|
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
|
NM_201253.3(CRB1):c.2019G>A (p.Lys673=)
|
rs762613347
|
0.00001
|
|
NM_201253.3(CRB1):c.201T>C (p.Cys67=)
|
rs778707167
|
0.00001
|
|
NM_201253.3(CRB1):c.2022T>C (p.Asp674=)
|
rs763534239
|
0.00001
|
|
NM_201253.3(CRB1):c.2040T>C (p.Pro680=)
|
rs756400739
|
0.00001
|
|
NM_201253.3(CRB1):c.2052A>G (p.Arg684=)
|
rs1220603723
|
0.00001
|
|
NM_201253.3(CRB1):c.2055A>G (p.Gly685=)
|
rs1267861114
|
0.00001
|
|
NM_201253.3(CRB1):c.2058C>T (p.Arg686=)
|
rs1297707527
|
0.00001
|
|
NM_201253.3(CRB1):c.207C>T (p.Asn69=)
|
rs1302750453
|
0.00001
|
|
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys)
|
rs1180527322
|
0.00001
|
|
NM_201253.3(CRB1):c.2106T>C (p.Tyr702=)
|
rs1381483469
|
0.00001
|
|
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys)
|
rs62645755
|
0.00001
|
|
NM_201253.3(CRB1):c.2129-15A>G
|
rs997262993
|
0.00001
|
|
NM_201253.3(CRB1):c.2129-8C>T
|
rs768488282
|
0.00001
|
|
NM_201253.3(CRB1):c.2136G>A (p.Val712=)
|
rs1308513402
|
0.00001
|
|
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val)
|
rs766989894
|
0.00001
|
|
NM_201253.3(CRB1):c.2166T>C (p.Thr722=)
|
rs1401615070
|
0.00001
|
|
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)
|
rs765676754
|
0.00001
|
|
NM_201253.3(CRB1):c.2172T>C (p.Tyr724=)
|
rs752824817
|
0.00001
|
|
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)
|
rs757381371
|
0.00001
|
|
NM_201253.3(CRB1):c.2244A>G (p.Pro748=)
|
rs1303632948
|
0.00001
|
|
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)
|
rs1192399919
|
0.00001
|
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
|
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly)
|
rs771264436
|
0.00001
|
|
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)
|
rs886045784
|
0.00001
|
|
NM_201253.3(CRB1):c.2352A>T (p.Val784=)
|
rs139001684
|
0.00001
|
|
NM_201253.3(CRB1):c.2367T>C (p.Asn789=)
|
rs998893595
|
0.00001
|
|
NM_201253.3(CRB1):c.2370T>C (p.Asp790=)
|
rs1664663329
|
0.00001
|
|
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile)
|
rs528781963
|
0.00001
|
|
NM_201253.3(CRB1):c.2391T>C (p.Ser797=)
|
rs749788926
|
0.00001
|
|
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)
|
rs767723282
|
0.00001
|
|
NM_201253.3(CRB1):c.2406A>T (p.Pro802=)
|
rs141103073
|
0.00001
|
|
NM_201253.3(CRB1):c.2472C>T (p.Ile824=)
|
rs757171810
|
0.00001
|
|
NM_201253.3(CRB1):c.2523T>C (p.Thr841=)
|
rs1191597946
|
0.00001
|
|
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg)
|
rs539189291
|
0.00001
|
|
NM_201253.3(CRB1):c.2544C>T (p.Phe848=)
|
rs760840456
|
0.00001
|
|
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser)
|
rs776591659
|
0.00001
|
|
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val)
|
rs757137398
|
0.00001
|
|
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)
|
rs62636271
|
0.00001
|
|
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
|
rs557930078
|
0.00001
|
|
NM_201253.3(CRB1):c.2580A>G (p.Gln860=)
|
rs562386611
|
0.00001
|
|
NM_201253.3(CRB1):c.2610C>T (p.Asn870=)
|
rs1032233875
|
0.00001
|
|
NM_201253.3(CRB1):c.261C>T (p.Asn87=)
|
rs759889286
|
0.00001
|
|
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)
|
rs772386967
|
0.00001
|
|
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser)
|
rs145525029
|
0.00001
|
|
NM_201253.3(CRB1):c.2676+10A>G
|
rs1184687882
|
0.00001
|
|
NM_201253.3(CRB1):c.2691C>T (p.His897=)
|
rs1664766595
|
0.00001
|
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
|
NM_201253.3(CRB1):c.2715G>A (p.Arg905=)
|
rs534108312
|
0.00001
|
|
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser)
|
rs751678963
|
0.00001
|
|
NM_201253.3(CRB1):c.2778G>A (p.Gln926=)
|
rs775185174
|
0.00001
|
|
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr)
|
rs374914600
|
0.00001
|
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
|
NM_201253.3(CRB1):c.2842+5G>A
|
rs773914330
|
0.00001
|
|
NM_201253.3(CRB1):c.2843-8C>A
|
rs745832578
|
0.00001
|
|
NM_201253.3(CRB1):c.285G>C (p.Leu95=)
|
rs753898127
|
0.00001
|
|
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)
|
rs905306614
|
0.00001
|
|
NM_201253.3(CRB1):c.2892A>G (p.Arg964=)
|
rs146781806
|
0.00001
|
|
NM_201253.3(CRB1):c.2931A>G (p.Thr977=)
|
rs764177876
|
0.00001
|
|
NM_201253.3(CRB1):c.2968T>C (p.Leu990=)
|
rs750298942
|
0.00001
|
|
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)
|
rs62635655
|
0.00001
|
|
NM_201253.3(CRB1):c.3000T>C (p.Asn1000=)
|
rs1477246106
|
0.00001
|
|
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val)
|
rs1179276987
|
0.00001
|
|
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)
|
rs878853367
|
0.00001
|
|
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)
|
rs374426440
|
0.00001
|
|
NM_201253.3(CRB1):c.309T>C (p.Ser103=)
|
rs777099127
|
0.00001
|
|
NM_201253.3(CRB1):c.3105C>T (p.His1035=)
|
rs541965270
|
0.00001
|
|
NM_201253.3(CRB1):c.3114C>T (p.Thr1038=)
|
rs1240273159
|
0.00001
|
|
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)
|
rs62635656
|
0.00001
|
|
NM_201253.3(CRB1):c.3132A>G (p.Pro1044=)
|
rs761284263
|
0.00001
|
|
NM_201253.3(CRB1):c.3165G>A (p.Val1055=)
|
rs1187770298
|
0.00001
|
|
NM_201253.3(CRB1):c.3168C>T (p.Asp1056=)
|
rs1182400732
|
0.00001
|
|
NM_201253.3(CRB1):c.3189C>A (p.Thr1063=)
|
rs370428071
|
0.00001
|
|
NM_201253.3(CRB1):c.3220T>C (p.Leu1074=)
|
rs777533163
|
0.00001
|
|
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser)
|
rs751303205
|
0.00001
|
|
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn)
|
rs769059111
|
0.00001
|
|
NM_201253.3(CRB1):c.3285G>C (p.Gly1095=)
|
rs1030214290
|
0.00001
|
|
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=)
|
rs374786358
|
0.00001
|
|
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)
|
rs115649214
|
0.00001
|
|
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)
|
rs62636276
|
0.00001
|
|
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu)
|
rs1226422852
|
0.00001
|
|
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)
|
rs763011436
|
0.00001
|
|
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter)
|
rs1342970033
|
0.00001
|
|
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu)
|
rs1034421454
|
0.00001
|
|
NM_201253.3(CRB1):c.3486T>C (p.His1162=)
|
rs553324848
|
0.00001
|
|
NM_201253.3(CRB1):c.348G>A (p.Lys116=)
|
rs763032541
|
0.00001
|
|
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg)
|
rs767368951
|
0.00001
|
|
NM_201253.3(CRB1):c.3564T>C (p.His1188=)
|
rs376271122
|
0.00001
|
|
NM_201253.3(CRB1):c.3609G>A (p.Glu1203=)
|
rs1177792712
|
0.00001
|
|
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn)
|
rs1334175594
|
0.00001
|
|
NM_201253.3(CRB1):c.3624T>C (p.Gly1208=)
|
rs760520811
|
0.00001
|
|
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)
|
rs759022743
|
0.00001
|
|
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser)
|
rs1031415706
|
0.00001
|
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
|
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu)
|
rs1222907981
|
0.00001
|
|
NM_201253.3(CRB1):c.3750-10A>C
|
rs766568931
|
0.00001
|
|
NM_201253.3(CRB1):c.3765C>T (p.Pro1255=)
|
rs1175098520
|
0.00001
|
|
NM_201253.3(CRB1):c.3810T>C (p.Asn1270=)
|
rs748813717
|
0.00001
|
|
NM_201253.3(CRB1):c.3828G>A (p.Glu1276=)
|
rs1390632601
|
0.00001
|
|
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=)
|
rs1041984071
|
0.00001
|
|
NM_201253.3(CRB1):c.3876A>G (p.Glu1292=)
|
rs114973695
|
0.00001
|
|
NM_201253.3(CRB1):c.3878+10A>G
|
rs886043311
|
0.00001
|
|
NM_201253.3(CRB1):c.3879-4G>A
|
rs373719645
|
0.00001
|
|
NM_201253.3(CRB1):c.3915G>A (p.Pro1305=)
|
rs541488801
|
0.00001
|
|
NM_201253.3(CRB1):c.3924T>C (p.Asn1308=)
|
rs771757120
|
0.00001
|
|
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)
|
rs1665481687
|
0.00001
|
|
NM_201253.3(CRB1):c.3939G>A (p.Gln1313=)
|
rs375597838
|
0.00001
|
|
NM_201253.3(CRB1):c.393T>C (p.Tyr131=)
|
rs1324766724
|
0.00001
|
|
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His)
|
rs62636281
|
0.00001
|
|
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter)
|
rs1246546027
|
0.00001
|
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
|
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met)
|
rs754862028
|
0.00001
|
|
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala)
|
rs778684885
|
0.00001
|
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
|
NM_201253.3(CRB1):c.4026C>T (p.Ser1342=)
|
rs142057392
|
0.00001
|
|
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn)
|
rs771181041
|
0.00001
|
|
NM_201253.3(CRB1):c.4039del (p.Thr1347fs)
|
rs745422941
|
0.00001
|
|
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)
|
rs774187022
|
0.00001
|
|
NM_201253.3(CRB1):c.4059C>T (p.Val1353=)
|
rs541669826
|
0.00001
|
|
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)
|
rs753097155
|
0.00001
|
|
NM_201253.3(CRB1):c.4104C>T (p.Val1368=)
|
rs781437952
|
0.00001
|
|
NM_201253.3(CRB1):c.4113C>T (p.Asn1371=)
|
rs1667262615
|
0.00001
|
|
NM_201253.3(CRB1):c.4122A>T (p.Ala1374=)
|
rs1667263346
|
0.00001
|
|
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr)
|
rs1203732030
|
0.00001
|
|
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
|
rs1658691162
|
0.00001
|
|
NM_201253.3(CRB1):c.559G>A (p.Val187Met)
|
rs774621951
|
0.00001
|
|
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg)
|
rs762835866
|
0.00001
|
|
NM_201253.3(CRB1):c.603C>T (p.Cys201=)
|
rs763908215
|
0.00001
|
|
NM_201253.3(CRB1):c.627T>C (p.Thr209=)
|
rs755611610
|
0.00001
|
|
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)
|
rs1658699227
|
0.00001
|
|
NM_201253.3(CRB1):c.652+17C>G
|
rs779288558
|
0.00001
|
|
NM_201253.3(CRB1):c.653-1G>T
|
rs760287363
|
0.00001
|
|
NM_201253.3(CRB1):c.653-6T>A
|
rs750059176
|
0.00001
|
|
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys)
|
rs762741389
|
0.00001
|
|
NM_201253.3(CRB1):c.70+7C>T
|
rs1358042113
|
0.00001
|
|
NM_201253.3(CRB1):c.70+8T>C
|
rs763662967
|
0.00001
|
|
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp)
|
rs778322895
|
0.00001
|
|
NM_201253.3(CRB1):c.71-12del
|
rs369741574
|
0.00001
|
|
NM_201253.3(CRB1):c.71-9T>A
|
rs571591819
|
0.00001
|
|
NM_201253.3(CRB1):c.711A>G (p.Ala237=)
|
rs1192169952
|
0.00001
|
|
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)
|
rs1452822430
|
0.00001
|
|
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser)
|
rs771079655
|
0.00001
|
|
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)
|
rs1461964160
|
0.00001
|
|
NM_201253.3(CRB1):c.75C>T (p.Ser25=)
|
rs768441650
|
0.00001
|
|
NM_201253.3(CRB1):c.763C>T (p.Leu255=)
|
rs1659649148
|
0.00001
|
|
NM_201253.3(CRB1):c.826C>T (p.Leu276=)
|
rs1405215161
|
0.00001
|
|
NM_201253.3(CRB1):c.849-10T>C
|
rs747523008
|
0.00001
|
|
NM_201253.3(CRB1):c.849-2A>G
|
rs988534225
|
0.00001
|
|
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter)
|
rs1046799192
|
0.00001
|
|
NM_201253.3(CRB1):c.864C>T (p.Cys288=)
|
rs1385265027
|
0.00001
|
|
NM_201253.3(CRB1):c.885G>C (p.Gly295=)
|
rs542716912
|
0.00001
|
|
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)
|
rs1412048468
|
0.00001
|
|
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)
|
rs911156007
|
0.00001
|
|
NM_201253.3(CRB1):c.957T>C (p.Ser319=)
|
rs765228022
|
0.00001
|
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
|
NM_201253.3(CRB1):c.996A>G (p.Thr332=)
|
rs1488355227
|
0.00001
|
|
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg)
|
rs778232235
|
0.00001
|
|
NM_205861.3(DHDDS):c.102C>T (p.Asp34=)
|
rs577531413
|
0.00001
|
|
NM_205861.3(DHDDS):c.139C>T (p.Arg47Trp)
|
rs750366746
|
0.00001
|
|
NM_205861.3(DHDDS):c.181-16C>A
|
rs1462542158
|
0.00001
|
|
NM_205861.3(DHDDS):c.198G>A (p.Leu66=)
|
rs1308665778
|
0.00001
|
|
NM_205861.3(DHDDS):c.213A>G (p.Leu71=)
|
rs1230195916
|
0.00001
|
|
NM_205861.3(DHDDS):c.228C>T (p.Tyr76=)
|
rs566029202
|
0.00001
|
|
NM_205861.3(DHDDS):c.22G>C (p.Glu8Gln)
|
rs1415428953
|
0.00001
|
|
NM_205861.3(DHDDS):c.231A>G (p.Ala77=)
|
rs373249607
|
0.00001
|
|
NM_205861.3(DHDDS):c.270A>T (p.Val90=)
|
rs1482389957
|
0.00001
|
|
NM_205861.3(DHDDS):c.274G>A (p.Gly92Arg)
|
rs766371067
|
0.00001
|
|
NM_205861.3(DHDDS):c.293G>A (p.Arg98Gln)
|
rs752459219
|
0.00001
|
|
NM_205861.3(DHDDS):c.323A>G (p.Lys108Arg)
|
rs2075232541
|
0.00001
|
|
NM_205861.3(DHDDS):c.324-4T>G
|
rs747118618
|
0.00001
|
|
NM_205861.3(DHDDS):c.339G>C (p.Lys113Asn)
|
rs144046776
|
0.00001
|
|
NM_205861.3(DHDDS):c.361C>T (p.Leu121=)
|
rs770824761
|
0.00001
|
|
NM_205861.3(DHDDS):c.366C>T (p.Gly122=)
|
rs774001400
|
0.00001
|
|
NM_205861.3(DHDDS):c.425C>T (p.Thr142Met)
|
rs758751596
|
0.00001
|
|
NM_205861.3(DHDDS):c.426G>A (p.Thr142=)
|
rs780727048
|
0.00001
|
|
NM_205861.3(DHDDS):c.440+8C>A
|
rs1454410409
|
0.00001
|
|
NM_205861.3(DHDDS):c.440A>G (p.Lys147Arg)
|
rs201280820
|
0.00001
|
|
NM_205861.3(DHDDS):c.441-20T>G
|
rs750044465
|
0.00001
|
|
NM_205861.3(DHDDS):c.45C>T (p.Phe15=)
|
rs1168720054
|
0.00001
|
|
NM_205861.3(DHDDS):c.465A>G (p.Ala155=)
|
rs202148886
|
0.00001
|
|
NM_205861.3(DHDDS):c.468C>T (p.Tyr156=)
|
rs768075911
|
0.00001
|
|
NM_205861.3(DHDDS):c.491A>G (p.Asn164Ser)
|
rs1429544868
|
0.00001
|
|
NM_205861.3(DHDDS):c.519G>A (p.Val173=)
|
rs372941732
|
0.00001
|
|
NM_205861.3(DHDDS):c.53A>G (p.Asn18Ser)
|
rs922422245
|
0.00001
|
|
NM_205861.3(DHDDS):c.542+16T>C
|
rs774865740
|
0.00001
|
|
NM_205861.3(DHDDS):c.542+7C>T
|
rs772779004
|
0.00001
|
|
NM_205861.3(DHDDS):c.543-10C>T
|
rs1326477506
|
0.00001
|
|
NM_205861.3(DHDDS):c.561G>A (p.Leu187=)
|
rs1264707466
|
0.00001
|
|
NM_205861.3(DHDDS):c.57C>T (p.Ile19=)
|
rs981419090
|
0.00001
|
|
NM_205861.3(DHDDS):c.587G>A (p.Arg196His)
|
rs912516570
|
0.00001
|
|
NM_205861.3(DHDDS):c.63+13C>T
|
rs370926608
|
0.00001
|
|
NM_205861.3(DHDDS):c.64-12C>A
|
rs201786378
|
0.00001
|
|
NM_205861.3(DHDDS):c.64-7T>C
|
rs557755780
|
0.00001
|
|
NM_205861.3(DHDDS):c.658-11A>G
|
rs1243630480
|
0.00001
|
|
NM_205861.3(DHDDS):c.658-2A>G
|
rs1248671884
|
0.00001
|
|
NM_205861.3(DHDDS):c.691C>G (p.Leu231Val)
|
rs372352032
|
0.00001
|
|
NM_205861.3(DHDDS):c.706A>T (p.Thr236Ser)
|
rs763763588
|
0.00001
|
|
NM_205861.3(DHDDS):c.723C>T (p.Phe241=)
|
rs375378756
|
0.00001
|
|
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys)
|
rs1229969030
|
0.00001
|
|
NM_205861.3(DHDDS):c.733C>G (p.Leu245Val)
|
rs1305856826
|
0.00001
|
|
NM_205861.3(DHDDS):c.738G>A (p.Gln246=)
|
rs369614880
|
0.00001
|
|
NM_205861.3(DHDDS):c.753T>C (p.His251=)
|
rs915027151
|
0.00001
|
|
NM_205861.3(DHDDS):c.765+18G>T
|
rs748452578
|
0.00001
|
|
NM_205861.3(DHDDS):c.78G>A (p.Pro26=)
|
rs988933766
|
0.00001
|
|
NM_205861.3(DHDDS):c.837G>A (p.Glu279=)
|
rs772459112
|
0.00001
|
|
NM_205861.3(DHDDS):c.892C>T (p.Arg298Cys)
|
rs919843886
|
0.00001
|
|
NM_205861.3(DHDDS):c.904C>T (p.Leu302Phe)
|
rs779438727
|
0.00001
|
|
NM_205861.3(DHDDS):c.917G>A (p.Arg306Gln)
|
rs543487813
|
0.00001
|
|
NM_205861.3(DHDDS):c.987C>T (p.Gly329=)
|
rs1381026387
|
0.00001
|
|
NC_000001.10:g.(?_100316599)_(101709564_?)dup
|
|
|
|
NC_000001.10:g.(?_100671776)_(100672202_?)del
|
|
|
|
NC_000001.10:g.(?_100680363)_(100684318_?)del
|
|
|
|
NC_000001.10:g.(?_110603355)_(111147404_?)del
|
|
|
|
NC_000001.10:g.(?_11850365)_(11851393_?)del
|
|
|
|
NC_000001.10:g.(?_11850365)_(11852446_?)del
|
|
|
|
NC_000001.10:g.(?_11850365)_(11856466_?)del
|
|
|
|
NC_000001.10:g.(?_11850934)_(11852658_?)del
|
|
|
|
NC_000001.10:g.(?_119466351)_(120286570_?)del
|
|
|
|
NC_000001.10:g.(?_120254636)_(120286673_?)del
|
|
|
|
NC_000001.10:g.(?_120277237)_(120278086_?)del
|
|
|
|
NC_000001.10:g.(?_120277237)_(120529725_?)dup
|
|
|
|
NC_000001.10:g.(?_120277247)_(120277399_?)del
|
|
|
|
NC_000001.10:g.(?_120311344)_(120311467_?)del
|
|
|
|
NC_000001.10:g.(?_19199319)_(19204126_?)dup
|
|
|
|
NC_000001.10:g.(?_19199339)_(19201095_?)del
|
|
|
|
NC_000001.10:g.(?_19199339)_(22987879_?)dup
|
|
|
|
NC_000001.10:g.(?_19199339)_(24690861_?)dup
|
|
|
|
NC_000001.10:g.(?_196918585)_(197742062_?)del
|
|
|
|
NC_000001.10:g.(?_197237324)_(197326153_?)del
|
|
|
|
NC_000001.10:g.(?_197237324)_(197447595_?)del
|
|
|
|
NC_000001.10:g.(?_197237543)_(197237632_?)dup
|
|
|
|
NC_000001.10:g.(?_197297532)_(197326163_?)dup
|
|
|
|
NC_000001.10:g.(?_197297532)_(197447009_?)dup
|
|
|
|
NC_000001.10:g.(?_197297542)_(197298143_?)del
|
|
|
|
NC_000001.10:g.(?_197297542)_(197326153_?)del
|
|
|
|
NC_000001.10:g.(?_197313391)_(197411442_?)dup
|
|
|
|
NC_000001.10:g.(?_197325941)_(197326163_?)del
|
|
|
|
NC_000001.10:g.(?_197325951)_(197326153_?)del
|
|
|
|
NC_000001.10:g.(?_197390110)_(197391106_?)del
|
|
|
|
NC_000001.10:g.(?_197390110)_(197398764_?)del
|
|
|
|
NC_000001.10:g.(?_197390110)_(197398764_?)dup
|
|
|
|
NC_000001.10:g.(?_197398094)_(197398754_?)del
|
|
|
|
NC_000001.10:g.(?_197407491)_(197411316_?)del
|
|
|
|
NC_000001.10:g.(?_197407657)_(197411442_?)del
|
|
|
|
NC_000001.10:g.(?_197407677)_(197411422_?)del
|
|
|
|
NC_000001.10:g.(?_197407736)_(197423021_?)del
|
|
|
|
NC_000001.10:g.(?_197446784)_(197447595_?)del
|
|
|
|
NC_000001.10:g.(?_197446965)_(197449864_?)del
|
|
|
|
NC_000001.10:g.(?_228194830)_(228566496_?)dup
|
|
|
|
NC_000001.10:g.(?_236959004)_(237060944_?)dup
|
|
|
|
NC_000001.10:g.(?_237060286)_(237060944_?)dup
|
|
|
|
NC_000001.10:g.(?_24128943)_(24129064_?)del
|
|
|
|
NC_000001.10:g.(?_24128943)_(24131025_?)del
|
|
|
|
NC_000001.10:g.(?_24137216)_(24140838_?)del
|
|
|
|
NC_000001.10:g.(?_24137216)_(24151915_?)del
|
|
|
|
NC_000001.10:g.(?_24140670)_(24140838_?)del
|
|
|
|
NC_000001.10:g.(?_24140670)_(24194786_?)del
|
|
|
|
NC_000001.10:g.(?_24146990)_(24151915_?)del
|
|
|
|
NC_000001.10:g.(?_25870190)_(27278871_?)dup
|
|
|
|
NC_000001.10:g.(?_26757796)_(26764723_?)del
|
|
|
|
NC_000001.10:g.(?_26764639)_(26764795_?)del
|
|
|
|
NC_000001.10:g.(?_26784272)_(26784406_?)del
|
|
|
|
NC_000001.10:g.(?_26784272)_(26795632_?)del
|
|
|
|
NC_000001.10:g.(?_45965995)_(45966095_?)del
|
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
|
NC_000001.10:g.(?_45974458)_(45974897_?)del
|
|
|
|
NC_000001.10:g.(?_68895449)_(68915598_?)del
|
|
|
|
NC_000001.10:g.(?_68895459)_(68915588_?)dup
|
|
|
|
NC_000001.10:g.(?_68910194)_(68912563_?)del
|
|
|
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NC_000019.9:g.(?_10828919)_(13482613_?)dup
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NC_000019.9:g.(?_13135448)_(13419362_?)dup
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NC_000019.9:g.(?_48342557)_(48343224_?)dup
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NC_000019.9:g.(?_51727962)_(51890697_?)del
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NC_000019.9:g.(?_51848465)_(51856564_?)dup
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NC_000021.8:g.(?_37133458)_(38311203_?)dup
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NC_000021.9:g.43063088_43063089insTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGG
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NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC
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NC_000021.9:g.43063090_43063091insGGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
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NC_000021.9:g.43063090_43063091insTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
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NC_000021.9:g.43063091_43063092insAGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGC
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NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCCCCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
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NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGCTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
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NC_000022.10:g.(?_18899287)_(18925066_?)del
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NC_000022.11:g.40345472C>T
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rs1437272102
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NC_000022.11:g.40345473G>A
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NC_000022.11:g.40345481C>T
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NC_000022.11:g.40345495T>C
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rs2146607102
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NC_000022.11:g.40345502G>A
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NC_000022.11:g.40345505C>T
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NC_000022.11:g.40345507A>T
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NC_000022.11:g.40345514C>T
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NC_000022.11:g.40345544T>C
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NC_000022.11:g.40345560T>C
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NC_000022.11:g.40345563C>T
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rs1014469698
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NC_000022.11:g.40345566G>T
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rs2146607321
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NC_000022.11:g.40345571T>G
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NC_000022.11:g.40345573T>C
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NC_000022.11:g.40345588_40345589insAAAAAAAAGG
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NC_000022.11:g.40345588_40345589insAAAAAAAGG
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rs377707583
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NC_000022.11:g.40345588_40345589insAAAAG
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NC_000022.11:g.40345588_40345589insAGG
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NC_000022.11:g.40345589G>A
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rs549370926
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NC_000022.11:g.40345590G>A
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NC_000022.11:g.40345590G>C
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NC_000022.11:g.40345590G>T
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NC_000022.11:g.40345592G>A
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rs950048889
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NC_000022.11:g.40345592G>C
|
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|
|
NC_000022.11:g.40345594G>C
|
|
|
|
NC_000022.11:g.40345596G>A
|
|
|
|
NC_000022.11:g.40345596_40345597dup
|
rs1555903152
|
|
|
NC_000022.11:g.40345597G>T
|
rs1470349903
|
|
|
NC_000022.11:g.40345597del
|
rs1555903152
|
|
|
NC_000022.11:g.40345597dup
|
|
|
|
NC_000022.11:g.40345600A>G
|
|
|
|
NC_000022.11:g.40345601C>G
|
|
|
|
NC_000022.11:g.40345604G>A
|
rs2146607753
|
|
|
NC_000022.11:g.40345606G>A
|
|
|
|
NC_000022.11:g.40345614_40345615del
|
rs140158876
|
|
|
NC_000022.11:g.40345621TTTA[2]
|
rs2044109357
|
|
|
NC_000022.11:g.40345622_40345627del
|
|
|
|
NC_000022.11:g.40345631T>C
|
rs2146607888
|
|
|
NC_000022.11:g.40345635dup
|
rs1206371108
|
|
|
NC_000022.11:g.40345636_40345637del
|
|
|
|
NC_000022.11:g.40345636_40345639del
|
rs952409371
|
|
|
NC_000022.11:g.40345647dup
|
rs113688962
|
|
|
NC_000022.11:g.40345651G>A
|
|
|
|
NC_000022.11:g.40345658T>A
|
|
|
|
NC_000022.11:g.40345663CT[1]
|
|
|
|
NC_000022.11:g.40345670G>T
|
|
|
|
NC_000022.11:g.40345676G>A
|
rs1018543619
|
|
|
NC_000022.11:g.40345676G>C
|
|
|
|
NC_000022.11:g.40345683T>G
|
rs2146608173
|
|
|
NC_000022.11:g.40345686A>G
|
rs866097692
|
|
|
NC_000022.11:g.40345694G>A
|
rs2146608187
|
|
|
NC_000022.11:g.40345697C>T
|
rs547176744
|
|
|
NC_000022.11:g.40345699del
|
rs2146608197
|
|
|
NC_000022.11:g.40345709C>G
|
|
|
|
NC_000022.11:g.40345714_40345716dup
|
|
|
|
NC_000022.11:g.40345723C>A
|
|
|
|
NC_000022.11:g.40345726G>A
|
|
|
|
NC_000022.11:g.40345742T>A
|
rs557264711
|
|
|
NC_000022.11:g.40345803dup
|
rs1165283078
|
|
|
NC_000022.11:g.40345805T>C
|
rs2146608408
|
|
|
NC_000022.11:g.40345820del
|
rs2146608473
|
|
|
NC_000022.11:g.40345822G>A
|
|
|
|
NC_000022.11:g.40345827C>T
|
|
|
|
NC_000022.11:g.40345830G>C
|
rs927256177
|
|
|
NC_000022.11:g.40345847C>G
|
|
|
|
NC_000022.11:g.40345856C>T
|
|
|
|
NC_000022.11:g.40345860G>A
|
|
|
|
NC_000022.11:g.40345873G>A
|
|
|
|
NC_000022.11:g.40345873G>C
|
rs146387429
|
|
|
NC_000022.11:g.40345877G>A
|
|
|
|
NC_000022.11:g.40345887C>T
|
rs897153956
|
|
|
NC_000022.11:g.40345895G>A
|
|
|
|
NC_000022.11:g.40345898_40345911del
|
|
|
|
NC_000022.11:g.40345905C>T
|
rs1051195380
|
|
|
NC_000022.11:g.40345910G>A
|
|
|
|
NC_000022.11:g.40345917A>C
|
|
|
|
NC_000022.11:g.40345924C>T
|
|
|
|
NC_000022.11:g.40345926G>A
|
|
|
|
NC_000022.11:g.40345930C>T
|
|
|
|
NC_000022.11:g.40345931A>G
|
rs2146609004
|
|
|
NC_000022.11:g.40345952G>T
|
rs2044120214
|
|
|
NC_000022.11:g.40345954T>C
|
|
|
|
NC_000022.11:g.40345968C>G
|
rs742139
|
|
|
NC_000022.11:g.40345969_40345970del
|
rs2146609166
|
|
|
NC_000022.11:g.40345971C>T
|
rs1040260159
|
|
|
NC_000022.11:g.40345978C>G
|
|
|
|
NC_000022.11:g.40345982A>C
|
|
|
|
NC_000022.11:g.40345987C>A
|
|
|
|
NC_000022.11:g.40345993C>T
|
rs2146609240
|
|
|
NC_000022.11:g.40345994G>A
|
|
|
|
NC_000022.11:g.40345998C>A
|
|
|
|
NC_000022.11:g.40345999G>C
|
rs2146609261
|
|
|
NC_000022.11:g.40346011A>G
|
|
|
|
NC_000022.11:g.40346016G>A
|
rs1421868511
|
|
|
NC_000022.11:g.40346019G>A
|
rs1024075575
|
|
|
NC_000022.11:g.40346019G>T
|
|
|
|
NC_000022.11:g.40346027G>A
|
|
|
|
NC_000022.11:g.40346032_40346033del
|
rs1359178555
|
|
|
NC_000022.11:g.40346037dup
|
|
|
|
NC_000022.11:g.40346039dup
|
rs1396866470
|
|
|
NC_000022.11:g.40346049T>C
|
rs562792922
|
|
|
NC_000022.11:g.40346052A>C
|
|
|
|
NC_000022.11:g.40346058C>A
|
rs79742008
|
|
|
NC_000022.11:g.40346065_40346067del
|
rs2146609595
|
|
|
NC_000022.11:g.40346083C>G
|
|
|
|
NC_000022.11:g.40346089C>T
|
rs2146609641
|
|
|
NC_000022.11:g.40346116C>A
|
rs77895579
|
|
|
NC_000022.11:g.40346117C>T
|
|
|
|
NC_000022.11:g.40346117_40346119del
|
|
|
|
NC_000022.11:g.40346117_40346120del
|
|
|
|
NC_000022.11:g.40346135T>G
|
|
|
|
NC_000022.11:g.40346147T>C
|
|
|
|
NC_000022.11:g.40346158C>T
|
rs2146610168
|
|
|
NC_000022.11:g.40346158del
|
rs528311466
|
|
|
NC_000022.11:g.40346161G>C
|
|
|
|
NC_000022.11:g.40346165G>T
|
rs909204
|
|
|
NC_000022.11:g.40346180C>G
|
|
|
|
NC_000022.11:g.40346188G>T
|
|
|
|
NC_000022.11:g.40346189T>G
|
rs2146610277
|
|
|
NC_000022.11:g.40346200C>T
|
|
|
|
NC_000022.11:g.40346222C>T
|
|
|
|
NC_000022.11:g.40346230C>G
|
rs2044131436
|
|
|
NC_000022.11:g.40346236G>A
|
|
|
|
NC_000022.11:g.40346243G>A
|
|
|
|
NC_000022.11:g.40346245T>C
|
|
|
|
NC_000022.11:g.40346275G>A
|
|
|
|
NC_000022.11:g.40346276G>A
|
rs540176537
|
|
|
NC_000022.11:g.40346283_40346292del
|
|
|
|
NC_000022.11:g.40346287G>A
|
|
|
|
NC_000022.11:g.40346289A>G
|
rs1601541349
|
|
|
NC_000022.11:g.40346304G>A
|
|
|
|
NC_000022.11:g.40346313A>C
|
rs2146610598
|
|
|
NC_000022.11:g.40346324G>A
|
rs1000950960
|
|
|
NC_000022.11:g.40346329A>C
|
rs2146610651
|
|
|
NC_000022.11:g.40346339G>A
|
rs2146610710
|
|
|
NC_000022.11:g.40346350C>T
|
|
|
|
NC_000022.11:g.40346357C>A
|
rs2146610771
|
|
|
NC_000022.11:g.40346358T>C
|
rs2146610772
|
|
|
NC_000022.11:g.40346371G>T
|
rs777987980
|
|
|
NC_000022.11:g.40346374C>G
|
rs1024378498
|
|
|
NC_000022.11:g.40346377A>T
|
rs749450413
|
|
|
NC_000022.11:g.40346385C>A
|
|
|
|
NC_000022.11:g.40346389G>A
|
|
|
|
NC_000022.11:g.40346390G>A
|
|
|
|
NC_000022.11:g.40346398A>G
|
|
|
|
NC_000022.11:g.40346402G>A
|
rs181976442
|
|
|
NC_000022.11:g.40346402G>C
|
rs181976442
|
|
|
NC_000022.11:g.40346406T>C
|
|
|
|
NC_000022.11:g.40346409T>C
|
rs2146611034
|
|
|
NC_000022.11:g.40346418G>T
|
|
|
|
NC_000022.11:g.40346420C>T
|
|
|
|
NC_000022.11:g.40346422G>C
|
rs2146611167
|
|
|
NC_000022.11:g.40346424G>A
|
rs186550906
|
|
|
NC_000022.11:g.40346424G>T
|
|
|
|
NC_000022.11:g.40346427C>G
|
rs2044138563
|
|
|
NC_000022.11:g.40346432C>A
|
rs190560535
|
|
|
NC_000022.11:g.40346432C>G
|
rs190560535
|
|
|
NC_000022.11:g.40346432C>T
|
rs190560535
|
|
|
NC_000022.11:g.40346433G>A
|
rs1284184707
|
|
|
NC_000022.11:g.40346434C>T
|
|
|
|
NC_000022.11:g.40346436C>T
|
|
|
|
NC_000022.11:g.40346438G>C
|
rs1286138763
|
|
|
NC_000022.11:g.40346450C>T
|
|
|
|
NC_000022.11:g.40346453G>C
|
|
|
|
NC_000022.11:g.40346456C>A
|
rs533768359
|
|
|
NC_000022.11:g.40346457G>A
|
|
|
|
NC_000022.11:g.40346465G>A
|
|
|
|
NC_000022.11:g.40346472C>T
|
|
|
|
NC_000022.11:g.40346473G>C
|
|
|
|
NC_000022.11:g.40346474C>A
|
rs2146611525
|
|
|
NC_000022.11:g.40346474CCCCG[3]
|
rs1237603952
|
|
|
NC_000022.11:g.40346477_40346491dup
|
|
|
|
NC_000022.11:g.40346482C>T
|
|
|
|
NC_000022.11:g.40346482_40346491dup
|
rs2146611569
|
|
|
NC_000022.11:g.40346483G>A
|
rs892749175
|
|
|
NC_000022.11:g.40346484_40346493del
|
rs2146611602
|
|
|
NC_000022.11:g.40346488G>A
|
rs2146611643
|
|
|
NC_000022.11:g.40346489C>T
|
rs949660803
|
|
|
NC_000022.11:g.40346491del
|
|
|
|
NC_000022.11:g.40346492T>G
|
|
|
|
NC_000023.10:g.(?_128674417)_(128674820_?)del
|
|
|
|
NC_000023.10:g.(?_128674417)_(128679034_?)dup
|
|
|
|
NC_000023.10:g.(?_128674417)_(128696783_?)del
|
|
|
|
NC_000023.10:g.(?_128674417)_(128724247_?)del
|
|
|
|
NC_000023.10:g.(?_128674417)_(128975921_?)dup
|
|
|
|
NC_000023.10:g.(?_128682520)_(128724247_?)dup
|
|
|
|
NC_000023.10:g.(?_128699729)_(128701360_?)del
|
|
|
|
NC_000023.10:g.(?_128720959)_(128724247_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_152770090)_(152954311_?)dup
|
|
|
|
NC_000023.10:g.(?_152954010)_(153141311_?)dup
|
|
|
|
NC_000023.10:g.(?_152954010)_(153599633_?)dup
|
|
|
|
NC_000023.10:g.(?_152958897)_(152969569_?)dup
|
|
|
|
NC_000023.10:g.(?_152959991)_(152960815_?)del
|
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
|
NC_000023.10:g.(?_30326313)_(41000684_?)del
|
|
|
|
NC_000023.10:g.(?_37545215)_(38280335_?)del
|
|
|
|
NC_000023.10:g.(?_37639262)_(38212036_?)dup
|
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)del
|
|
|
|
NC_000023.10:g.(?_38128879)_(38280335_?)dup
|
|
|
|
NC_000023.10:g.(?_38210736)_(38281703_?)del
|
|
|
|
NC_000023.10:g.(?_38211793)_(38212046_?)del
|
|
|
|
NC_000023.10:g.(?_38229029)_(38229150_?)del
|
|
|
|
NC_000023.10:g.(?_38240585)_(38272343_?)del
|
|
|
|
NC_000023.10:g.(?_38262851)_(38263013_?)del
|
|
|
|
NC_000023.10:g.(?_43515570)_(43603780_?)del
|
|
|
|
NC_000023.10:g.(?_43515590)_(43817891_?)del
|
|
|
|
NC_000023.11:g.(?_153688555)_(153688856_?)del
|
|
|
|
NC_000023.11:g.(?_38352331)_(38352793_?)del
|
|
|
|
NC_000023.11:g.(?_38352331)_(38352793_?)dup
|
|
|
|
NC_000023.11:g.(?_38367271)_(38367449_?)del
|
|
|
|
NC_000023.11:g.(?_38381322)_(38413090_?)del
|
|
|
|
NC_000023.11:g.(?_38401255)_(38401693_?)del
|
|
|
|
NC_000023.11:g.129558634del
|
|
|
|
NC_000023.11:g.129565773del
|
rs2124409486
|
|
|
NC_000023.11:g.153693174AGGTG[3]
|
|
|
|
NM_000016.6(ACADM):c.*5delA
|
|
|
|
NM_000016.6(ACADM):c.*5dup (p.Ter422=)
|
rs3841786
|
|
|
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs)
|
rs875989865
|
|
|
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn)
|
rs794727013
|
|
|
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser)
|
rs1323513432
|
|
|
NM_000016.6(ACADM):c.1010dup (p.Tyr337Ter)
|
rs2100452908
|
|
|
NM_000016.6(ACADM):c.1011C>A (p.Tyr337Ter)
|
rs2100452915
|
|
|
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu)
|
rs796051896
|
|
|
NM_000016.6(ACADM):c.1017A>G (p.Arg339=)
|
|
|
|
NM_000016.6(ACADM):c.101G>T (p.Gly34Val)
|
|
|
|
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr)
|
rs1424545377
|
|
|
NM_000016.6(ACADM):c.1022_1029del (p.Ala341fs)
|
rs2100452990
|
|
|
NM_000016.6(ACADM):c.1023T>C (p.Ala341=)
|
|
|
|
NM_000016.6(ACADM):c.1029G>A (p.Glu343=)
|
|
|
|
NM_000016.6(ACADM):c.1032T>C (p.Val344=)
|
rs774315514
|
|
|
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val)
|
rs771978135
|
|
|
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
|
|
|
|
NM_000016.6(ACADM):c.1041T>G (p.Gly347=)
|
rs2100453092
|
|
|
NM_000016.6(ACADM):c.1042del (p.Arg348fs)
|
rs2100453109
|
|
|
NM_000016.6(ACADM):c.1043G>A (p.Arg348His)
|
|
|
|
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly)
|
rs148207467
|
|
|
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu)
|
rs760335676
|
|
|
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter)
|
|
|
|
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter)
|
rs1647090485
|
|
|
NM_000016.6(ACADM):c.1053C>T (p.Thr351=)
|
rs2100453178
|
|
|
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp)
|
rs1557466834
|
|
|
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs)
|
|
|
|
NM_000016.6(ACADM):c.1066A>G (p.Ile356Val)
|
|
|
|
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr)
|
rs2100453278
|
|
|
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly)
|
|
|
|
NM_000016.6(ACADM):c.1071A>G (p.Ala357=)
|
|
|
|
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro)
|
rs1224909875
|
|
|
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer)
|
rs875989875
|
|
|
NM_000016.6(ACADM):c.1086A>C (p.Gly362=)
|
rs2100453395
|
|
|
NM_000016.6(ACADM):c.108A>G (p.Gly36=)
|
rs2100347303
|
|
|
NM_000016.6(ACADM):c.1095A>G (p.Ala365=)
|
rs376993634
|
|
|
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg)
|
|
|
|
NM_000016.6(ACADM):c.1101G>A (p.Gln367=)
|
rs2100453483
|
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
|
NM_000016.6(ACADM):c.1114dup (p.Ala372fs)
|
rs1057516278
|
|
|
NM_000016.6(ACADM):c.1117G>A (p.Val373Met)
|
|
|
|
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu)
|
|
|
|
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter)
|
rs2100453612
|
|
|
NM_000016.6(ACADM):c.1128T>C (p.Leu376=)
|
|
|
|
NM_000016.6(ACADM):c.1137T>C (p.Asn379=)
|
|
|
|
NM_000016.6(ACADM):c.1149A>G (p.Thr383=)
|
rs2100453695
|
|
|
NM_000016.6(ACADM):c.1155T>C (p.Tyr385=)
|
rs2100453722
|
|
|
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu)
|
rs1057518630
|
|
|
NM_000016.6(ACADM):c.1161A>T (p.Val387=)
|
|
|
|
NM_000016.6(ACADM):c.1167del (p.Lys389fs)
|
|
|
|
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys)
|
rs2100453846
|
|
|
NM_000016.6(ACADM):c.1176G>A (p.Arg392=)
|
rs2100453854
|
|
|
NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn)
|
|
|
|
NM_000016.6(ACADM):c.118+10C>A
|
|
|
|
NM_000016.6(ACADM):c.118+11G>A
|
|
|
|
NM_000016.6(ACADM):c.118+17A>G
|
|
|
|
NM_000016.6(ACADM):c.118+1G>T
|
rs113887538
|
|
|
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr)
|
rs776312173
|
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
|
NM_000016.6(ACADM):c.1186dup (p.Ile396fs)
|
|
|
|
NM_000016.6(ACADM):c.1188C>G (p.Ile396Met)
|
|
|
|
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs)
|
|
|
|
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs)
|
rs875989877
|
|
|
NM_000016.6(ACADM):c.119-10_119-8dup
|
rs761432730
|
|
|
NM_000016.6(ACADM):c.119-12A>G
|
|
|
|
NM_000016.6(ACADM):c.119-16A>T
|
rs760185676
|
|
|
NM_000016.6(ACADM):c.119-1G>C
|
rs1647165465
|
|
|
NM_000016.6(ACADM):c.119-5C>T
|
|
|
|
NM_000016.6(ACADM):c.119-7C>A
|
|
|
|
NM_000016.6(ACADM):c.119-7C>T
|
|
|
|
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser)
|
rs1553127216
|
|
|
NM_000016.6(ACADM):c.1194+13A>G
|
|
|
|
NM_000016.6(ACADM):c.1194+16A>G
|
|
|
|
NM_000016.6(ACADM):c.1194+17T>C
|
|
|
|
NM_000016.6(ACADM):c.1194+19T>G
|
|
|
|
NM_000016.6(ACADM):c.1194+23del
|
|
|
|
NM_000016.6(ACADM):c.1194+23dup
|
|
|
|
NM_000016.6(ACADM):c.1194+6G>A
|
|
|
|
NM_000016.6(ACADM):c.1195-14T>A
|
|
|
|
NM_000016.6(ACADM):c.1195-14T>C
|
|
|
|
NM_000016.6(ACADM):c.1195-15A>G
|
|
|
|
NM_000016.6(ACADM):c.1195-17T>G
|
|
|
|
NM_000016.6(ACADM):c.1195-21_1195-11del
|
|
|
|
NM_000016.6(ACADM):c.1195-7del
|
rs2100456720
|
|
|
NM_000016.6(ACADM):c.1195-8dup
|
|
|
|
NM_000016.6(ACADM):c.1197T>C (p.Ile399=)
|
|
|
|
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met)
|
|
|
|
NM_000016.6(ACADM):c.11G>T (p.Gly4Val)
|
|
|
|
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs)
|
|
|
|
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
|
|
|
|
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala)
|
rs1462472677
|
|
|
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp)
|
|
|
|
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu)
|
|
|
|
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser)
|
|
|
|
NM_000016.6(ACADM):c.1221A>G (p.Gln407=)
|
|
|
|
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs)
|
rs875989860
|
|
|
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs)
|
|
|
|
NM_000016.6(ACADM):c.1227T>G (p.Leu409=)
|
rs2100456877
|
|
|
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del)
|
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
|
NM_000016.6(ACADM):c.1236C>G (p.Ala412=)
|
|
|
|
NM_000016.6(ACADM):c.1239T>A (p.Arg413=)
|
rs767921195
|
|
|
NM_000016.6(ACADM):c.1248T>C (p.Ile416=)
|
|
|
|
NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg)
|
|
|
|
NM_000016.6(ACADM):c.12G>A (p.Gly4=)
|
|
|
|
NM_000016.6(ACADM):c.12G>T (p.Gly4=)
|
rs757845443
|
|
|
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter)
|
|
|
|
NM_000016.6(ACADM):c.132G>A (p.Gln44=)
|
rs1647165709
|
|
|
NM_000016.6(ACADM):c.135G>C (p.Gln45His)
|
|
|
|
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs)
|
|
|
|
NM_000016.6(ACADM):c.150T>A (p.Ala50=)
|
rs1647165968
|
|
|
NM_000016.6(ACADM):c.153T>G (p.Thr51=)
|
rs1444170033
|
|
|
NM_000016.6(ACADM):c.154_156del (p.Ala52del)
|
rs2100362599
|
|
|
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln)
|
|
|
|
NM_000016.6(ACADM):c.165T>C (p.Phe55=)
|
rs2100362680
|
|
|
NM_000016.6(ACADM):c.165del (p.Phe55fs)
|
rs1319192670
|
|
|
NM_000016.6(ACADM):c.166G>C (p.Ala56Pro)
|
|
|
|
NM_000016.6(ACADM):c.168C>T (p.Ala56=)
|
|
|
|
NM_000016.6(ACADM):c.168del (p.Arg57fs)
|
rs2100362712
|
|
|
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu)
|
|
|
|
NM_000016.6(ACADM):c.183C>T (p.Ile61=)
|
rs1647166593
|
|
|
NM_000016.6(ACADM):c.1A>G (p.Met1Val)
|
rs1057516778
|
|
|
NM_000016.6(ACADM):c.1A>T (p.Met1Leu)
|
rs1057516778
|
|
|
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn)
|
rs2100362891
|
|
|
NM_000016.6(ACADM):c.203del (p.Asp68fs)
|
rs2100362899
|
|
|
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg)
|
rs927784210
|
|
|
NM_000016.6(ACADM):c.213T>G (p.Gly71=)
|
rs1316700534
|
|
|
NM_000016.6(ACADM):c.216+10T>G
|
rs2275378
|
|
|
NM_000016.6(ACADM):c.216+13A>G
|
|
|
|
NM_000016.6(ACADM):c.216+19A>C
|
|
|
|
NM_000016.6(ACADM):c.216+1G>A
|
|
|
|
NM_000016.6(ACADM):c.216+2T>G
|
rs398123073
|
|
|
NM_000016.6(ACADM):c.217-10T>C
|
rs1647169552
|
|
|
NM_000016.6(ACADM):c.217-12T>C
|
|
|
|
NM_000016.6(ACADM):c.217-12T>G
|
|
|
|
NM_000016.6(ACADM):c.217-13C>A
|
|
|
|
NM_000016.6(ACADM):c.217-16G>A
|
|
|
|
NM_000016.6(ACADM):c.217-1G>A
|
rs1570861829
|
|
|
NM_000016.6(ACADM):c.217-2A>G
|
rs1647169738
|
|
|
NM_000016.6(ACADM):c.217-4C>G
|
|
|
|
NM_000016.6(ACADM):c.217-8T>C
|
|
|
|
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu)
|
rs1647169888
|
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
|
NM_000016.6(ACADM):c.225C>A (p.Val75=)
|
rs770293389
|
|
|
NM_000016.6(ACADM):c.225C>T (p.Val75=)
|
|
|
|
NM_000016.6(ACADM):c.232A>G (p.Ile78Val)
|
rs2100363487
|
|
|
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del)
|
rs1553122972
|
|
|
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr)
|
rs1448376709
|
|
|
NM_000016.6(ACADM):c.243_250del (p.Glu83fs)
|
rs2100363563
|
|
|
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter)
|
rs2100332723
|
|
|
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg)
|
rs398123075
|
|
|
NM_000016.6(ACADM):c.260T>C (p.Met87Thr)
|
rs767649048
|
|
|
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr)
|
rs1647171392
|
|
|
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro)
|
rs371194356
|
|
|
NM_000016.6(ACADM):c.270C>T (p.His90=)
|
|
|
|
NM_000016.6(ACADM):c.273dup (p.Pro92fs)
|
|
|
|
NM_000016.6(ACADM):c.279G>A (p.Glu93=)
|
rs2100363744
|
|
|
NM_000016.6(ACADM):c.286+14A>G
|
rs1570862121
|
|
|
NM_000016.6(ACADM):c.286+6C>T
|
|
|
|
NM_000016.6(ACADM):c.286+9_286+10insTTTTT
|
rs2100363808
|
|
|
NM_000016.6(ACADM):c.287-12T>C
|
|
|
|
NM_000016.6(ACADM):c.287-1G>C
|
rs794727694
|
|
|
NM_000016.6(ACADM):c.287-2A>G
|
rs1057518677
|
|
|
NM_000016.6(ACADM):c.287-5T>C
|
rs990706580
|
|
|
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser)
|
rs1553123053
|
|
|
NM_000016.6(ACADM):c.291T>C (p.Gly97=)
|
|
|
|
NM_000016.6(ACADM):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000016.6(ACADM):c.30+10A>G
|
rs759413479
|
|
|
NM_000016.6(ACADM):c.30+11G>A
|
|
|
|
NM_000016.6(ACADM):c.30+14C>T
|
|
|
|
NM_000016.6(ACADM):c.30+18G>A
|
rs762704029
|
|
|
NM_000016.6(ACADM):c.30+18G>C
|
|
|
|
NM_000016.6(ACADM):c.30+18G>T
|
|
|
|
NM_000016.6(ACADM):c.30+1G>C
|
|
|
|
NM_000016.6(ACADM):c.30+20T>C
|
rs1570843347
|
|
|
NM_000016.6(ACADM):c.30+2T>G
|
rs768596219
|
|
|
NM_000016.6(ACADM):c.30+5G>C
|
|
|
|
NM_000016.6(ACADM):c.30+8G>C
|
|
|
|
NM_000016.6(ACADM):c.30+9G>A
|
rs770961707
|
|
|
NM_000016.6(ACADM):c.30+9G>C
|
rs770961707
|
|
|
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu)
|
rs875989862
|
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
|
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu)
|
|
|
|
NM_000016.6(ACADM):c.309del (p.Phe103fs)
|
|
|
|
NM_000016.6(ACADM):c.31-12T>C
|
|
|
|
NM_000016.6(ACADM):c.31-12T>G
|
|
|
|
NM_000016.6(ACADM):c.31-13G>A
|
|
|
|
NM_000016.6(ACADM):c.31-16A>G
|
|
|
|
NM_000016.6(ACADM):c.31-17A>G
|
|
|
|
NM_000016.6(ACADM):c.31-19A>T
|
|
|
|
NM_000016.6(ACADM):c.31-20A>C
|
|
|
|
NM_000016.6(ACADM):c.31-2A>G
|
rs766727876
|
|
|
NM_000016.6(ACADM):c.31-4A>G
|
rs2100346922
|
|
|
NM_000016.6(ACADM):c.31-5T>A
|
|
|
|
NM_000016.6(ACADM):c.31-8C>T
|
rs1231281560
|
|
|
NM_000016.6(ACADM):c.310G>A (p.Asp104Asn)
|
rs2100365770
|
|
|
NM_000016.6(ACADM):c.311A>G (p.Asp104Gly)
|
rs1647187729
|
|
|
NM_000016.6(ACADM):c.321A>C (p.Leu107Phe)
|
rs2100365813
|
|
|
NM_000016.6(ACADM):c.321A>G (p.Leu107=)
|
rs2100365813
|
|
|
NM_000016.6(ACADM):c.322_325del (p.Ile108fs)
|
rs875989873
|
|
|
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg)
|
rs1647188135
|
|
|
NM_000016.6(ACADM):c.32T>C (p.Val11Ala)
|
|
|
|
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys)
|
|
|
|
NM_000016.6(ACADM):c.331G>T (p.Glu111Ter)
|
|
|
|
NM_000016.6(ACADM):c.333_345del (p.Glu111fs)
|
rs1647188308
|
|
|
NM_000016.6(ACADM):c.337G>A (p.Ala113Thr)
|
rs1570863351
|
|
|
NM_000016.6(ACADM):c.338C>A (p.Ala113Asp)
|
rs2100365905
|
|
|
NM_000016.6(ACADM):c.33C>T (p.Val11=)
|
rs1557440940
|
|
|
NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter)
|
rs2100365911
|
|
|
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs)
|
rs1647188440
|
|
|
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly)
|
rs875989863
|
|
|
NM_000016.6(ACADM):c.348T>C (p.Cys116=)
|
rs2100365971
|
|
|
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg)
|
rs1553123069
|
|
|
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp)
|
|
|
|
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala)
|
rs1647188699
|
|
|
NM_000016.6(ACADM):c.355dup (p.Val119fs)
|
rs1553123071
|
|
|
NM_000016.6(ACADM):c.366T>A (p.Ala122=)
|
|
|
|
NM_000016.6(ACADM):c.366T>C (p.Ala122=)
|
rs1647188974
|
|
|
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly)
|
rs759305231
|
|
|
NM_000016.6(ACADM):c.377del (p.Asn126fs)
|
rs2100366089
|
|
|
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro)
|
rs1647189185
|
|
|
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr)
|
|
|
|
NM_000016.6(ACADM):c.382T>G (p.Leu128Val)
|
|
|
|
NM_000016.6(ACADM):c.383dup (p.Leu128fs)
|
rs1647189225
|
|
|
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp)
|
rs886042076
|
|
|
NM_000016.6(ACADM):c.387+11T>C
|
|
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
|
NM_000016.6(ACADM):c.388-19T>A
|
rs1553123252
|
|
|
NM_000016.6(ACADM):c.388-19T>C
|
|
|
|
NM_000016.6(ACADM):c.388-1G>A
|
rs2100370448
|
|
|
NM_000016.6(ACADM):c.388-4G>A
|
rs2100370415
|
|
|
NM_000016.6(ACADM):c.395C>A (p.Pro132His)
|
|
|
|
NM_000016.6(ACADM):c.396T>C (p.Pro132=)
|
rs1647211756
|
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
|
NM_000016.6(ACADM):c.399T>C (p.Ile133=)
|
rs2100370611
|
|
|
NM_000016.6(ACADM):c.3G>C (p.Met1Ile)
|
rs1553121887
|
|
|
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr)
|
|
|
|
NM_000016.6(ACADM):c.408T>C (p.Ala136=)
|
|
|
|
NM_000016.6(ACADM):c.417T>C (p.Asp139=)
|
|
|
|
NM_000016.6(ACADM):c.423_425del (p.Lys144del)
|
rs886042087
|
|
|
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del)
|
rs875989857
|
|
|
NM_000016.6(ACADM):c.425del (p.Lys142fs)
|
rs886042087
|
|
|
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)
|
|
|
|
NM_000016.6(ACADM):c.431_434del (p.Lys144fs)
|
rs1057517356
|
|
|
NM_000016.6(ACADM):c.437del (p.Leu146fs)
|
rs749529577
|
|
|
NM_000016.6(ACADM):c.438G>A (p.Leu146=)
|
rs2100371014
|
|
|
NM_000016.6(ACADM):c.441G>T (p.Gly147=)
|
rs2100371058
|
|
|
NM_000016.6(ACADM):c.443G>T (p.Arg148Ile)
|
|
|
|
NM_000016.6(ACADM):c.449_452del (p.Thr150fs)
|
rs786204642
|
|
|
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly)
|
|
|
|
NM_000016.6(ACADM):c.459A>G (p.Pro153=)
|
rs2100371183
|
|
|
NM_000016.6(ACADM):c.460T>C (p.Leu154=)
|
rs2100371196
|
|
|
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp)
|
rs1553123263
|
|
|
NM_000016.6(ACADM):c.468+11G>A
|
|
|
|
NM_000016.6(ACADM):c.468+20G>A
|
|
|
|
NM_000016.6(ACADM):c.468+2T>C
|
rs1647214301
|
|
|
NM_000016.6(ACADM):c.468+2T>G
|
rs1647214301
|
|
|
NM_000016.6(ACADM):c.468+3G>T
|
|
|
|
NM_000016.6(ACADM):c.468+7_468+8del
|
rs1647214461
|
|
|
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp)
|
rs1647214213
|
|
|
NM_000016.6(ACADM):c.469-16T>C
|
|
|
|
NM_000016.6(ACADM):c.469-19T>A
|
|
|
|
NM_000016.6(ACADM):c.469-19_469-18del
|
|
|
|
NM_000016.6(ACADM):c.469-20C>T
|
|
|
|
NM_000016.6(ACADM):c.469-2A>G
|
|
|
|
NM_000016.6(ACADM):c.469-6T>C
|
|
|
|
NM_000016.6(ACADM):c.469-8T>C
|
|
|
|
NM_000016.6(ACADM):c.469-9A>T
|
|
|
|
NM_000016.6(ACADM):c.471T>C (p.Ala157=)
|
rs2100389425
|
|
|
NM_000016.6(ACADM):c.472T>C (p.Tyr158His)
|
rs1570876467
|
|
|
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys)
|
rs1553123858
|
|
|
NM_000016.6(ACADM):c.475del (p.Cys159fs)
|
|
|
|
NM_000016.6(ACADM):c.477T>C (p.Cys159=)
|
|
|
|
NM_000016.6(ACADM):c.47del (p.Ser16fs)
|
rs1325949559
|
|
|
NM_000016.6(ACADM):c.480A>C (p.Val160=)
|
rs2100389477
|
|
|
NM_000016.6(ACADM):c.489T>C (p.Pro163=)
|
|
|
|
NM_000016.6(ACADM):c.493G>A (p.Ala165Thr)
|
|
|
|
NM_000016.6(ACADM):c.494C>T (p.Ala165Val)
|
rs1260394550
|
|
|
NM_000016.6(ACADM):c.498C>G (p.Gly166=)
|
|
|
|
NM_000016.6(ACADM):c.498C>T (p.Gly166=)
|
|
|
|
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly)
|
rs745844469
|
|
|
NM_000016.6(ACADM):c.507A>G (p.Val169=)
|
|
|
|
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp)
|
|
|
|
NM_000016.6(ACADM):c.518del (p.Lys173fs)
|
rs2100389603
|
|
|
NM_000016.6(ACADM):c.520dup (p.Thr174fs)
|
|
|
|
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr)
|
rs200754053
|
|
|
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser)
|
rs200754053
|
|
|
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly)
|
|
|
|
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln)
|
|
|
|
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del)
|
rs1553123869
|
|
|
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly)
|
rs1553123872
|
|
|
NM_000016.6(ACADM):c.546G>A (p.Glu182=)
|
|
|
|
NM_000016.6(ACADM):c.54T>C (p.Phe18=)
|
|
|
|
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr)
|
rs1647480996
|
|
|
NM_000016.6(ACADM):c.555T>G (p.Ile185Met)
|
rs1647481193
|
|
|
NM_000016.6(ACADM):c.558T>C (p.Asn186=)
|
|
|
|
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter)
|
|
|
|
NM_000016.6(ACADM):c.576A>G (p.Ile192Met)
|
rs1647482271
|
|
|
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala)
|
rs121434279
|
|
|
NM_000016.6(ACADM):c.579C>G (p.Thr193=)
|
rs534575785
|
|
|
NM_000016.6(ACADM):c.579C>T (p.Thr193=)
|
rs534575785
|
|
|
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu)
|
|
|
|
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu)
|
rs1199770829
|
|
|
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr)
|
rs1647485086
|
|
|
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg)
|
|
|
|
NM_000016.6(ACADM):c.599+11C>G
|
|
|
|
NM_000016.6(ACADM):c.599+12A>G
|
rs1403181967
|
|
|
NM_000016.6(ACADM):c.599+16C>T
|
|
|
|
NM_000016.6(ACADM):c.599+17A>T
|
|
|
|
NM_000016.6(ACADM):c.599+19C>T
|
|
|
|
NM_000016.6(ACADM):c.599+9T>C
|
rs752789232
|
|
|
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
|
|
|
|
NM_000016.6(ACADM):c.600-12T>G
|
|
|
|
NM_000016.6(ACADM):c.600-1G>A
|
rs2100407767
|
|
|
NM_000016.6(ACADM):c.600-8T>C
|
|
|
|
NM_000016.6(ACADM):c.600-9A>G
|
|
|
|
NM_000016.6(ACADM):c.600-9A>T
|
rs772764643
|
|
|
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
|
|
|
|
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter)
|
rs1486350523
|
|
|
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro)
|
rs1324329442
|
|
|
NM_000016.6(ACADM):c.614C>T (p.Ala205Val)
|
rs1647865251
|
|
|
NM_000016.6(ACADM):c.615A>G (p.Ala205=)
|
rs2100407904
|
|
|
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu)
|
rs200724875
|
|
|
NM_000016.6(ACADM):c.618T>C (p.Arg206=)
|
rs2100407938
|
|
|
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr)
|
rs983879715
|
|
|
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala)
|
rs765741682
|
|
|
NM_000016.6(ACADM):c.627A>G (p.Pro209=)
|
rs1337545473
|
|
|
NM_000016.6(ACADM):c.639T>C (p.Ala213=)
|
|
|
|
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro)
|
|
|
|
NM_000016.6(ACADM):c.652del (p.Ala218fs)
|
rs2100408169
|
|
|
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
|
|
|
|
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys)
|
rs2100408210
|
|
|
NM_000016.6(ACADM):c.659C>G (p.Thr220Ser)
|
|
|
|
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter)
|
|
|
|
NM_000016.6(ACADM):c.65C>G (p.Ser22Ter)
|
|
|
|
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys)
|
rs886042056
|
|
|
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter)
|
rs1570851702
|
|
|
NM_000016.6(ACADM):c.681T>C (p.Asp227=)
|
|
|
|
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn)
|
rs149678400
|
|
|
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile)
|
rs149678400
|
|
|
NM_000016.6(ACADM):c.686del (p.Pro229fs)
|
rs1647873033
|
|
|
NM_000016.6(ACADM):c.693T>C (p.Ile231=)
|
|
|
|
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu)
|
rs2100408490
|
|
|
NM_000016.6(ACADM):c.6A>G (p.Ala2=)
|
rs752190688
|
|
|
NM_000016.6(ACADM):c.6A>T (p.Ala2=)
|
rs752190688
|
|
|
NM_000016.6(ACADM):c.702G>T (p.Gly234=)
|
|
|
|
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter)
|
|
|
|
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter)
|
|
|
|
NM_000016.6(ACADM):c.708+10T>A
|
rs1647876114
|
|
|
NM_000016.6(ACADM):c.708+11_708+14del
|
|
|
|
NM_000016.6(ACADM):c.708+15A>G
|
|
|
|
NM_000016.6(ACADM):c.708+19A>G
|
|
|
|
NM_000016.6(ACADM):c.708+3A>G
|
rs2100408597
|
|
|
NM_000016.6(ACADM):c.708+6G>A
|
rs958629659
|
|
|
NM_000016.6(ACADM):c.708+8A>C
|
rs372454296
|
|
|
NM_000016.6(ACADM):c.708+9T>C
|
rs991394488
|
|
|
NM_000016.6(ACADM):c.709-13A>C
|
|
|
|
NM_000016.6(ACADM):c.709-18T>C
|
|
|
|
NM_000016.6(ACADM):c.709-19A>G
|
|
|
|
NM_000016.6(ACADM):c.709-2A>C
|
rs1553125211
|
|
|
NM_000016.6(ACADM):c.709-4T>C
|
rs1648074655
|
|
|
NM_000016.6(ACADM):c.709-7T>C
|
|
|
|
NM_000016.6(ACADM):c.712T>C (p.Leu238=)
|
|
|
|
NM_000016.6(ACADM):c.721G>A (p.Gly241Ser)
|
rs2100417374
|
|
|
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg)
|
|
|
|
NM_000016.6(ACADM):c.729A>G (p.Arg243=)
|
rs2100417405
|
|
|
NM_000016.6(ACADM):c.732T>C (p.Cys244=)
|
rs2100417419
|
|
|
NM_000016.6(ACADM):c.738T>C (p.Asp246=)
|
|
|
|
NM_000016.6(ACADM):c.741_742dup (p.Arg248fs)
|
rs2100417454
|
|
|
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly)
|
rs875989867
|
|
|
NM_000016.6(ACADM):c.744A>C (p.Arg248Ser)
|
rs2100417476
|
|
|
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu)
|
rs1648077584
|
|
|
NM_000016.6(ACADM):c.751G>A (p.Val251Ile)
|
|
|
|
NM_000016.6(ACADM):c.753C>A (p.Val251=)
|
|
|
|
NM_000016.6(ACADM):c.753C>T (p.Val251=)
|
rs2100417528
|
|
|
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys)
|
rs780510026
|
|
|
NM_000016.6(ACADM):c.762T>C (p.Asp254=)
|
|
|
|
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu)
|
|
|
|
NM_000016.6(ACADM):c.778_782del (p.Glu260fs)
|
rs2100417619
|
|
|
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr)
|
rs2100347143
|
|
|
NM_000016.6(ACADM):c.783T>C (p.Asn261=)
|
|
|
|
NM_000016.6(ACADM):c.785T>A (p.Val262Asp)
|
rs1489192992
|
|
|
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer)
|
rs1557457623
|
|
|
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter)
|
|
|
|
NM_000016.6(ACADM):c.799_803del (p.Gly267fs)
|
rs2100417735
|
|
|
NM_000016.6(ACADM):c.801del (p.Ala268fs)
|
rs2100417752
|
|
|
NM_000016.6(ACADM):c.817_829del (p.Ala273fs)
|
rs875989872
|
|
|
NM_000016.6(ACADM):c.81C>T (p.Ala27=)
|
|
|
|
NM_000016.6(ACADM):c.820A>G (p.Met274Val)
|
|
|
|
NM_000016.6(ACADM):c.823_824dup (p.Ala276fs)
|
|
|
|
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter)
|
|
|
|
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser)
|
|
|
|
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser)
|
|
|
|
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr)
|
rs121434282
|
|
|
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser)
|
rs780504551
|
|
|
NM_000016.6(ACADM):c.849+11T>A
|
|
|
|
NM_000016.6(ACADM):c.849+12G>A
|
|
|
|
NM_000016.6(ACADM):c.849+13G>A
|
|
|
|
NM_000016.6(ACADM):c.849+13G>C
|
|
|
|
NM_000016.6(ACADM):c.849+13G>T
|
|
|
|
NM_000016.6(ACADM):c.849+14G>A
|
|
|
|
NM_000016.6(ACADM):c.849+14_849+15insCCAT
|
|
|
|
NM_000016.6(ACADM):c.849+9T>A
|
|
|
|
NM_000016.6(ACADM):c.850-10A>T
|
|
|
|
NM_000016.6(ACADM):c.850-15A>G
|
|
|
|
NM_000016.6(ACADM):c.850-16_850-8dup
|
|
|
|
NM_000016.6(ACADM):c.850-19T>C
|
|
|
|
NM_000016.6(ACADM):c.850-3_850-2insTAAATACTTAAAAT
|
rs1553125391
|
|
|
NM_000016.6(ACADM):c.850-6T>C
|
|
|
|
NM_000016.6(ACADM):c.855T>C (p.Ala285=)
|
rs2100420216
|
|
|
NM_000016.6(ACADM):c.859G>C (p.Gly287Arg)
|
|
|
|
NM_000016.6(ACADM):c.862del (p.Ala288fs)
|
|
|
|
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla)
|
|
|
|
NM_000016.6(ACADM):c.865G>T (p.Val289Phe)
|
rs1648137997
|
|
|
NM_000016.6(ACADM):c.866T>C (p.Val289Ala)
|
rs1057520215
|
|
|
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu)
|
rs769906625
|
|
|
NM_000016.6(ACADM):c.876A>G (p.Ala292=)
|
|
|
|
NM_000016.6(ACADM):c.879A>G (p.Gln293=)
|
rs1302160137
|
|
|
NM_000016.6(ACADM):c.87A>G (p.Arg29=)
|
rs2100347177
|
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
|
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile)
|
|
|
|
NM_000016.6(ACADM):c.882_883del (p.Arg294fs)
|
rs796051901
|
|
|
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu)
|
|
|
|
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla)
|
|
|
|
NM_000016.6(ACADM):c.900C>G (p.Thr300=)
|
|
|
|
NM_000016.6(ACADM):c.903G>A (p.Lys301=)
|
rs2100420394
|
|
|
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr)
|
rs875989855
|
|
|
NM_000016.6(ACADM):c.918G>A (p.Arg306=)
|
|
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
|
NM_000016.6(ACADM):c.926dup (p.Gly310fs)
|
rs875989864
|
|
|
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu)
|
rs771550655
|
|
|
NM_000016.6(ACADM):c.927del (p.Phe309fs)
|
rs1557458562
|
|
|
NM_000016.6(ACADM):c.936A>G (p.Leu312=)
|
|
|
|
NM_000016.6(ACADM):c.945+11T>G
|
|
|
|
NM_000016.6(ACADM):c.945+13C>T
|
|
|
|
NM_000016.6(ACADM):c.945+18T>C
|
rs2100420600
|
|
|
NM_000016.6(ACADM):c.945+18dup
|
|
|
|
NM_000016.6(ACADM):c.945+20C>G
|
|
|
|
NM_000016.6(ACADM):c.945+8T>G
|
rs1570893452
|
|
|
NM_000016.6(ACADM):c.946-10T>C
|
|
|
|
NM_000016.6(ACADM):c.946-13T>C
|
|
|
|
NM_000016.6(ACADM):c.946-14C>A
|
|
|
|
NM_000016.6(ACADM):c.946-14_946-12del
|
|
|
|
NM_000016.6(ACADM):c.946-20T>G
|
|
|
|
NM_000016.6(ACADM):c.946-2dup
|
rs1648822448
|
|
|
NM_000016.6(ACADM):c.946-4C>A
|
rs752961658
|
|
|
NM_000016.6(ACADM):c.946-6T>C
|
|
|
|
NM_000016.6(ACADM):c.946-6T>G
|
rs765793260
|
|
|
NM_000016.6(ACADM):c.946-9T>C
|
rs1057524311
|
|
|
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu)
|
rs1057516564
|
|
|
NM_000016.6(ACADM):c.950A>T (p.Gln317Leu)
|
rs1557466604
|
|
|
NM_000016.6(ACADM):c.954A>G (p.Ala318=)
|
|
|
|
NM_000016.6(ACADM):c.955A>G (p.Ile319Val)
|
|
|
|
NM_000016.6(ACADM):c.957_958del (p.Ser320fs)
|
rs1057517103
|
|
|
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter)
|
rs1057516485
|
|
|
NM_000016.6(ACADM):c.972T>A (p.Ala324=)
|
|
|
|
NM_000016.6(ACADM):c.973dup (p.Glu325fs)
|
rs1648824675
|
|
|
NM_000016.6(ACADM):c.977T>C (p.Met326Thr)
|
rs786204631
|
|
|
NM_000016.6(ACADM):c.982A>G (p.Met328Val)
|
rs1648825926
|
|
|
NM_000016.6(ACADM):c.983T>C (p.Met328Thr)
|
|
|
|
NM_000016.6(ACADM):c.987A>G (p.Lys329=)
|
|
|
|
NM_000016.6(ACADM):c.989_1010del (p.Val330fs)
|
rs1553127172
|
|
|
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg)
|
|
|
|
NM_000016.6(ACADM):c.990T>A (p.Val330=)
|
rs2100452828
|
|
|
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter)
|
rs1225471006
|
|
|
NM_000016.6(ACADM):c.99A>G (p.Pro33=)
|
rs2100347227
|
|
|
NM_000017.4(ACADS):c.1025T>C (p.Ile342Thr)
|
|
|
|
NM_000017.4(ACADS):c.1028A>G (p.Lys343Arg)
|
rs1883556301
|
|
|
NM_000017.4(ACADS):c.1029+18C>T
|
|
|
|
NM_000017.4(ACADS):c.1030-13C>T
|
|
|
|
NM_000017.4(ACADS):c.1030-20G>A
|
|
|
|
NM_000017.4(ACADS):c.1030-3_1044dup
|
rs1883566976
|
|
|
NM_000017.4(ACADS):c.1030-6G>A
|
rs1249811685
|
|
|
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr)
|
rs202078273
|
|
|
NM_000017.4(ACADS):c.1064C>T (p.Ala355Val)
|
rs770439736
|
|
|
NM_000017.4(ACADS):c.1066G>A (p.Ala356Thr)
|
rs768733898
|
|
|
NM_000017.4(ACADS):c.1067C>T (p.Ala356Val)
|
rs1378527596
|
|
|
NM_000017.4(ACADS):c.1072G>T (p.Ala358Ser)
|
|
|
|
NM_000017.4(ACADS):c.1077C>G (p.Ile359Met)
|
|
|
|
NM_000017.4(ACADS):c.1084C>G (p.Gln362Glu)
|
rs541587321
|
|
|
NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)
|
rs541587321
|
|
|
NM_000017.4(ACADS):c.1086+19C>A
|
|
|
|
NM_000017.4(ACADS):c.1086+2T>G
|
|
|
|
NM_000017.4(ACADS):c.1102G>A (p.Gly368Ser)
|
rs1433674196
|
|
|
NM_000017.4(ACADS):c.1112G>C (p.Gly371Ala)
|
|
|
|
NM_000017.4(ACADS):c.1116C>T (p.Tyr372=)
|
|
|
|
NM_000017.4(ACADS):c.1131G>A (p.Pro377=)
|
|
|
|
NM_000017.4(ACADS):c.1141C>A (p.His381Asn)
|
rs1219162519
|
|
|
NM_000017.4(ACADS):c.1152C>T (p.Asp384=)
|
|
|
|
NM_000017.4(ACADS):c.1153G>A (p.Ala385Thr)
|
rs202124189
|
|
|
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser)
|
rs202124189
|
|
|
NM_000017.4(ACADS):c.1167G>A (p.Glu389=)
|
rs1195281334
|
|
|
NM_000017.4(ACADS):c.1170C>T (p.Ile390=)
|
|
|
|
NM_000017.4(ACADS):c.1179C>T (p.Gly393=)
|
|
|
|
NM_000017.4(ACADS):c.1186G>A (p.Glu396Lys)
|
|
|
|
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp)
|
rs375931905
|
|
|
NM_000017.4(ACADS):c.1198C>G (p.Leu400Val)
|
rs369840561
|
|
|
NM_000017.4(ACADS):c.1226G>C (p.Ser409Thr)
|
|
|
|
NM_000017.4(ACADS):c.125_135del (p.Leu42fs)
|
rs1057516733
|
|
|
NM_000017.4(ACADS):c.126C>G (p.Leu42=)
|
|
|
|
NM_000017.4(ACADS):c.151_153del (p.Lys51del)
|
|
|
|
NM_000017.4(ACADS):c.152A>G (p.Lys51Arg)
|
|
|
|
NM_000017.4(ACADS):c.157T>G (p.Leu53Val)
|
rs1883110478
|
|
|
NM_000017.4(ACADS):c.170C>T (p.Ala57Val)
|
|
|
|
NM_000017.4(ACADS):c.189A>T (p.Glu63Asp)
|
|
|
|
NM_000017.4(ACADS):c.193C>A (p.Leu65Ile)
|
rs377388400
|
|
|
NM_000017.4(ACADS):c.203C>T (p.Ala68Val)
|
rs148789330
|
|
|
NM_000017.4(ACADS):c.210+13C>T
|
rs1883114264
|
|
|
NM_000017.4(ACADS):c.211-2A>G
|
|
|
|
NM_000017.4(ACADS):c.215A>G (p.Lys72Arg)
|
|
|
|
NM_000017.4(ACADS):c.215AGA[1] (p.Lys73del)
|
rs1883462118
|
|
|
NM_000017.4(ACADS):c.221_222insCCAT (p.Met74fs)
|
rs1317080057
|
|
|
NM_000017.4(ACADS):c.222G>A (p.Met74Ile)
|
|
|
|
NM_000017.4(ACADS):c.226G>T (p.Gly76Trp)
|
|
|
|
NM_000017.4(ACADS):c.243C>T (p.Ala81=)
|
|
|
|
NM_000017.4(ACADS):c.244A>C (p.Met82Leu)
|
|
|
|
NM_000017.4(ACADS):c.249C>T (p.Asp83=)
|
|
|
|
NM_000017.4(ACADS):c.259G>A (p.Glu87Lys)
|
|
|
|
NM_000017.4(ACADS):c.263T>G (p.Leu88Arg)
|
|
|
|
NM_000017.4(ACADS):c.267C>T (p.Gly89=)
|
|
|
|
NM_000017.4(ACADS):c.280G>A (p.Asp94Asn)
|
rs772604031
|
|
|
NM_000017.4(ACADS):c.285C>T (p.Tyr95=)
|
|
|
|
NM_000017.4(ACADS):c.286C>T (p.Leu96=)
|
|
|
|
NM_000017.4(ACADS):c.294C>T (p.Tyr98=)
|
|
|
|
NM_000017.4(ACADS):c.295G>A (p.Ala99Thr)
|
|
|
|
NM_000017.4(ACADS):c.298A>G (p.Ile100Val)
|
|
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000017.4(ACADS):c.301G>A (p.Ala101Thr)
|
|
|
|
NM_000017.4(ACADS):c.307GAG[1] (p.Glu104del)
|
rs387906308
|
|
|
NM_000017.4(ACADS):c.314T>A (p.Ile105Asn)
|
rs1035363801
|
|
|
NM_000017.4(ACADS):c.320_321inv (p.Arg107His)
|
|
|
|
NM_000017.4(ACADS):c.321_322inv (p.Gly108Ser)
|
|
|
|
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr)
|
rs780571371
|
|
|
NM_000017.4(ACADS):c.347T>C (p.Met116Thr)
|
|
|
|
NM_000017.4(ACADS):c.352G>A (p.Val118Ile)
|
|
|
|
NM_000017.4(ACADS):c.359A>G (p.Asn120Ser)
|
|
|
|
NM_000017.4(ACADS):c.360+16G>A
|
rs2136948385
|
|
|
NM_000017.4(ACADS):c.360+19C>G
|
|
|
|
NM_000017.4(ACADS):c.360+6C>G
|
|
|
|
NM_000017.4(ACADS):c.360+8C>G
|
|
|
|
NM_000017.4(ACADS):c.361-10G>C
|
|
|
|
NM_000017.4(ACADS):c.361-13G>A
|
|
|
|
NM_000017.4(ACADS):c.361-14C>A
|
|
|
|
NM_000017.4(ACADS):c.361-20G>A
|
|
|
|
NM_000017.4(ACADS):c.362_363CT[2] (p.Tyr123fs)
|
rs1433582057
|
|
|
NM_000017.4(ACADS):c.364C>T (p.Leu122Phe)
|
rs1555243946
|
|
|
NM_000017.4(ACADS):c.380T>C (p.Ile127Thr)
|
rs1555243949
|
|
|
NM_000017.4(ACADS):c.38C>T (p.Ala13Val)
|
|
|
|
NM_000017.4(ACADS):c.391G>C (p.Gly131Arg)
|
rs1883486863
|
|
|
NM_000017.4(ACADS):c.399G>A (p.Lys133=)
|
|
|
|
NM_000017.4(ACADS):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000017.4(ACADS):c.402G>A (p.Glu134=)
|
|
|
|
NM_000017.4(ACADS):c.409C>T (p.Gln137Ter)
|
rs752677472
|
|
|
NM_000017.4(ACADS):c.413C>T (p.Ala138Val)
|
|
|
|
NM_000017.4(ACADS):c.432C>T (p.Thr144=)
|
|
|
|
NM_000017.4(ACADS):c.43A>G (p.Arg15Gly)
|
rs1338857285
|
|
|
NM_000017.4(ACADS):c.46+16A>C
|
|
|
|
NM_000017.4(ACADS):c.46+9G>T
|
|
|
|
NM_000017.4(ACADS):c.461T>G (p.Leu154Arg)
|
rs1057523592
|
|
|
NM_000017.4(ACADS):c.47-14G>C
|
rs2136939265
|
|
|
NM_000017.4(ACADS):c.47-17T>C
|
|
|
|
NM_000017.4(ACADS):c.47-2A>C
|
rs770646738
|
|
|
NM_000017.4(ACADS):c.47-6C>A
|
rs749023748
|
|
|
NM_000017.4(ACADS):c.472+1G>T
|
|
|
|
NM_000017.4(ACADS):c.472+9C>G
|
|
|
|
NM_000017.4(ACADS):c.473-5G>A
|
rs2136949081
|
|
|
NM_000017.4(ACADS):c.473-7T>C
|
|
|
|
NM_000017.4(ACADS):c.477C>A (p.Asn159Lys)
|
|
|
|
NM_000017.4(ACADS):c.478G>A (p.Gly160Ser)
|
|
|
|
NM_000017.4(ACADS):c.489A>C (p.Ala163=)
|
|
|
|
NM_000017.4(ACADS):c.492_513del (p.Ala165fs)
|
rs745833347
|
|
|
NM_000017.4(ACADS):c.494C>T (p.Ala165Val)
|
|
|
|
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro)
|
rs777002501
|
|
|
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr)
|
rs765604622
|
|
|
NM_000017.4(ACADS):c.514dup (p.Ala172fs)
|
rs1482609511
|
|
|
NM_000017.4(ACADS):c.516C>T (p.Ala172=)
|
rs531683812
|
|
|
NM_000017.4(ACADS):c.528A>C (p.Ser176=)
|
|
|
|
NM_000017.4(ACADS):c.542G>A (p.Gly181Glu)
|
rs2136949225
|
|
|
NM_000017.4(ACADS):c.557T>A (p.Ile186Asn)
|
|
|
|
NM_000017.4(ACADS):c.576T>C (p.Ala192=)
|
|
|
|
NM_000017.4(ACADS):c.603G>A (p.Thr201=)
|
|
|
|
NM_000017.4(ACADS):c.603G>T (p.Thr201=)
|
|
|
|
NM_000017.4(ACADS):c.612C>A (p.Ala204=)
|
|
|
|
NM_000017.4(ACADS):c.620A>G (p.Asn207Ser)
|
|
|
|
NM_000017.4(ACADS):c.624+19G>A
|
|
|
|
NM_000017.4(ACADS):c.624+19G>C
|
|
|
|
NM_000017.4(ACADS):c.624+5G>A
|
rs2136949319
|
|
|
NM_000017.4(ACADS):c.625-10C>T
|
|
|
|
NM_000017.4(ACADS):c.625-3C>T
|
|
|
|
NM_000017.4(ACADS):c.625-8C>A
|
|
|
|
NM_000017.4(ACADS):c.636C>T (p.Ala212=)
|
|
|
|
NM_000017.4(ACADS):c.654_655delinsCT (p.Thr219Ser)
|
rs1883526461
|
|
|
NM_000017.4(ACADS):c.670T>C (p.Leu224=)
|
|
|
|
NM_000017.4(ACADS):c.672G>A (p.Leu224=)
|
|
|
|
NM_000017.4(ACADS):c.674G>A (p.Gly225Glu)
|
rs2136949808
|
|
|
NM_000017.4(ACADS):c.67C>T (p.Arg23Trp)
|
rs770222581
|
|
|
NM_000017.4(ACADS):c.682_683del (p.Glu228fs)
|
rs786204691
|
|
|
NM_000017.4(ACADS):c.683A>C (p.Glu228Ala)
|
|
|
|
NM_000017.4(ACADS):c.68G>C (p.Arg23Pro)
|
|
|
|
NM_000017.4(ACADS):c.702G>A (p.Arg234=)
|
rs1306227224
|
|
|
NM_000017.4(ACADS):c.712A>G (p.Thr238Ala)
|
rs2136949858
|
|
|
NM_000017.4(ACADS):c.740G>T (p.Arg247Leu)
|
|
|
|
NM_000017.4(ACADS):c.760C>G (p.Leu254Val)
|
rs979775355
|
|
|
NM_000017.4(ACADS):c.773G>A (p.Gly258Glu)
|
rs2136949926
|
|
|
NM_000017.4(ACADS):c.795+1G>A
|
rs752978753
|
|
|
NM_000017.4(ACADS):c.795+4A>G
|
|
|
|
NM_000017.4(ACADS):c.795+8C>T
|
|
|
|
NM_000017.4(ACADS):c.795+9G>T
|
|
|
|
NM_000017.4(ACADS):c.796-11G>A
|
|
|
|
NM_000017.4(ACADS):c.796-12C>T
|
|
|
|
NM_000017.4(ACADS):c.796C>G (p.Gln266Glu)
|
|
|
|
NM_000017.4(ACADS):c.80C>T (p.Thr27Ile)
|
|
|
|
NM_000017.4(ACADS):c.812del (p.Gly271fs)
|
rs2136950036
|
|
|
NM_000017.4(ACADS):c.817A>G (p.Ile273Val)
|
|
|
|
NM_000017.4(ACADS):c.823A>T (p.Ile275Phe)
|
rs1883539190
|
|
|
NM_000017.4(ACADS):c.840G>T (p.Leu280=)
|
|
|
|
NM_000017.4(ACADS):c.842G>T (p.Gly281Val)
|
|
|
|
NM_000017.4(ACADS):c.848C>T (p.Ala283Val)
|
rs758290381
|
|
|
NM_000017.4(ACADS):c.855C>T (p.Thr285=)
|
|
|
|
NM_000017.4(ACADS):c.856G>A (p.Ala286Thr)
|
rs781119134
|
|
|
NM_000017.4(ACADS):c.859C>T (p.Leu287Phe)
|
rs1373305585
|
|
|
NM_000017.4(ACADS):c.861C>T (p.Leu287=)
|
|
|
|
NM_000017.4(ACADS):c.862G>T (p.Asp288Tyr)
|
|
|
|
NM_000017.4(ACADS):c.868G>C (p.Ala290Pro)
|
rs777181213
|
|
|
NM_000017.4(ACADS):c.86A>G (p.Tyr29Cys)
|
|
|
|
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
|
|
|
|
NM_000017.4(ACADS):c.87C>T (p.Tyr29=)
|
|
|
|
NM_000017.4(ACADS):c.88C>T (p.Gln30Ter)
|
|
|
|
NM_000017.4(ACADS):c.897C>A (p.Ala299=)
|
|
|
|
NM_000017.4(ACADS):c.910C>T (p.Leu304Phe)
|
|
|
|
NM_000017.4(ACADS):c.910dup (p.Leu304fs)
|
rs1057516606
|
|
|
NM_000017.4(ACADS):c.931C>T (p.Gln311Ter)
|
|
|
|
NM_000017.4(ACADS):c.933+5T>C
|
|
|
|
NM_000017.4(ACADS):c.94G>A (p.Val32Met)
|
|
|
|
NM_000017.4(ACADS):c.962_973del (p.Leu321_Ala324del)
|
rs1373044759
|
|
|
NM_000017.4(ACADS):c.984C>T (p.Thr328=)
|
|
|
|
NM_000017.4(ACADS):c.989_990delinsAT (p.Arg330His)
|
rs1555244280
|
|
|
NM_000017.4(ACADS):c.989_990delinsTT (p.Arg330Leu)
|
|
|
|
NM_000017.4(ACADS):c.993T>C (p.Ala331=)
|
|
|
|
NM_000018.3(ACADVL):c.1375dup
|
rs796051916
|
|
|
NM_000018.3(ACADVL):c.625del
|
rs2071251239
|
|
|
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1004A>G (p.His335Arg)
|
rs2142980423
|
|
|
NM_000018.4(ACADVL):c.1005C>T (p.His335=)
|
|
|
|
NM_000018.4(ACADVL):c.1007T>A (p.Ile336Asn)
|
rs1431769044
|
|
|
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs)
|
rs1567565643
|
|
|
NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)
|
rs1567565656
|
|
|
NM_000018.4(ACADVL):c.1009_1011del (p.Leu337del)
|
rs1315330884
|
|
|
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs)
|
rs2142960989
|
|
|
NM_000018.4(ACADVL):c.1011C>T (p.Leu337=)
|
|
|
|
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)
|
|
|
|
NM_000018.4(ACADVL):c.1015A>T (p.Asn339Tyr)
|
rs2071293900
|
|
|
NM_000018.4(ACADVL):c.1017T>C (p.Asn339=)
|
rs2142980519
|
|
|
NM_000018.4(ACADVL):c.1019G>A (p.Gly340Glu)
|
rs934797393
|
|
|
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)
|
rs934797393
|
|
|
NM_000018.4(ACADVL):c.1023G>A (p.Arg341=)
|
rs373411700
|
|
|
NM_000018.4(ACADVL):c.102C>T (p.Gly34=)
|
rs2142961120
|
|
|
NM_000018.4(ACADVL):c.1031T>G (p.Met344Arg)
|
rs2142980587
|
|
|
NM_000018.4(ACADVL):c.1037C>A (p.Ala346Glu)
|
|
|
|
NM_000018.4(ACADVL):c.1037C>G (p.Ala346Gly)
|
|
|
|
NM_000018.4(ACADVL):c.1039del (p.Ala347fs)
|
rs2071295244
|
|
|
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs)
|
rs1329022268
|
|
|
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)
|
|
|
|
NM_000018.4(ACADVL):c.1043T>C (p.Leu348Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer)
|
rs1555528508
|
|
|
NM_000018.4(ACADVL):c.1045G>C (p.Ala349Pro)
|
rs1567565733
|
|
|
NM_000018.4(ACADVL):c.1048G>A (p.Gly350Ser)
|
rs767138639
|
|
|
NM_000018.4(ACADVL):c.1049G>A (p.Gly350Asp)
|
|
|
|
NM_000018.4(ACADVL):c.1049G>C (p.Gly350Ala)
|
rs1343647718
|
|
|
NM_000018.4(ACADVL):c.104del (p.Pro35fs)
|
rs1443151475
|
|
|
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
|
|
|
|
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs)
|
rs2071296591
|
|
|
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs)
|
rs1402646371
|
|
|
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs)
|
rs1555527532
|
|
|
NM_000018.4(ACADVL):c.1062C>A (p.Gly354=)
|
rs2142980779
|
|
|
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)
|
rs754325237
|
|
|
NM_000018.4(ACADVL):c.1063_1064delinsGG (p.Ile355Gly)
|
|
|
|
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu)
|
|
|
|
NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)
|
|
|
|
NM_000018.4(ACADVL):c.1077+10C>G
|
|
|
|
NM_000018.4(ACADVL):c.1077+11T>A
|
|
|
|
NM_000018.4(ACADVL):c.1077+13C>T
|
|
|
|
NM_000018.4(ACADVL):c.1077+15C>A
|
|
|
|
NM_000018.4(ACADVL):c.1077+1G>A
|
rs140989450
|
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
|
NM_000018.4(ACADVL):c.1077+3_1077+6del
|
rs2071298305
|
|
|
NM_000018.4(ACADVL):c.1077+5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1077+9C>G
|
rs2142980927
|
|
|
NM_000018.4(ACADVL):c.1077_1077+1del
|
rs2142980883
|
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
|
NM_000018.4(ACADVL):c.1078-10C>T
|
rs748209172
|
|
|
NM_000018.4(ACADVL):c.1078-15T>A
|
rs2071310800
|
|
|
NM_000018.4(ACADVL):c.1078-18G>A
|
|
|
|
NM_000018.4(ACADVL):c.1078-2A>G
|
rs2142981920
|
|
|
NM_000018.4(ACADVL):c.1078-5T>G
|
rs1266629718
|
|
|
NM_000018.4(ACADVL):c.1078-8T>C
|
rs1597531722
|
|
|
NM_000018.4(ACADVL):c.1078-9C>T
|
rs2071311236
|
|
|
NM_000018.4(ACADVL):c.107C>T (p.Ala36Val)
|
rs1165915680
|
|
|
NM_000018.4(ACADVL):c.1080A>G (p.Val360=)
|
|
|
|
NM_000018.4(ACADVL):c.1080A>T (p.Val360=)
|
rs2142981942
|
|
|
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)
|
rs1331739604
|
|
|
NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.1082A>G (p.Asp361Gly)
|
rs1214845060
|
|
|
NM_000018.4(ACADVL):c.1089C>T (p.Ala363=)
|
rs774273664
|
|
|
NM_000018.4(ACADVL):c.108C>T (p.Ala36=)
|
|
|
|
NM_000018.4(ACADVL):c.1092T>C (p.Thr364=)
|
rs745742925
|
|
|
NM_000018.4(ACADVL):c.1093A>G (p.Asn365Asp)
|
rs988045058
|
|
|
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs)
|
rs2142982040
|
|
|
NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly)
|
rs771874163
|
|
|
NM_000018.4(ACADVL):c.1097G>C (p.Arg366Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1097G>T (p.Arg366Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1098T>C (p.Arg366=)
|
rs2142982087
|
|
|
NM_000018.4(ACADVL):c.1101C>A (p.Thr367=)
|
|
|
|
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs)
|
rs1567566228
|
|
|
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)
|
rs776063244
|
|
|
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)
|
rs398123080
|
|
|
NM_000018.4(ACADVL):c.110G>A (p.Arg37Gln)
|
|
|
|
NM_000018.4(ACADVL):c.1111G>A (p.Glu371Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
|
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1128T>C (p.Phe376=)
|
|
|
|
NM_000018.4(ACADVL):c.1128T>G (p.Phe376Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1131G>A (p.Gly377=)
|
rs2142982245
|
|
|
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)
|
rs781467053
|
|
|
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs)
|
rs2142982293
|
|
|
NM_000018.4(ACADVL):c.1140G>A (p.Gln380=)
|
rs748299183
|
|
|
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del)
|
rs1057517281
|
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
|
|
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)
|
rs1281137823
|
|
|
NM_000018.4(ACADVL):c.1146G>A (p.Lys382=)
|
rs1057523504
|
|
|
NM_000018.4(ACADVL):c.1147C>A (p.Leu383Met)
|
|
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
|
NM_000018.4(ACADVL):c.1147C>T (p.Leu383=)
|
rs756194870
|
|
|
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs)
|
rs2142982389
|
|
|
NM_000018.4(ACADVL):c.1153C>A (p.Arg385=)
|
|
|
|
NM_000018.4(ACADVL):c.1155del (p.Met386fs)
|
|
|
|
NM_000018.4(ACADVL):c.1158G>A (p.Met386Ile)
|
rs2142982416
|
|
|
NM_000018.4(ACADVL):c.1159G>C (p.Val387Leu)
|
rs1422904205
|
|
|
NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1167G>A (p.Leu389=)
|
rs2142982468
|
|
|
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
|
|
|
|
NM_000018.4(ACADVL):c.1170G>C (p.Gln390His)
|
rs775196157
|
|
|
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)
|
rs2071316298
|
|
|
NM_000018.4(ACADVL):c.1173T>C (p.Tyr391=)
|
rs2071316298
|
|
|
NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1176A>G (p.Val392=)
|
rs2071316566
|
|
|
NM_000018.4(ACADVL):c.1179T>C (p.Thr393=)
|
|
|
|
NM_000018.4(ACADVL):c.1182+16G>T
|
|
|
|
NM_000018.4(ACADVL):c.1182+18C>G
|
|
|
|
NM_000018.4(ACADVL):c.1182+18C>T
|
|
|
|
NM_000018.4(ACADVL):c.1182+1G>T
|
|
|
|
NM_000018.4(ACADVL):c.1182+2dup
|
rs1597532215
|
|
|
NM_000018.4(ACADVL):c.1182+3G>A
|
rs376281637
|
|
|
NM_000018.4(ACADVL):c.1182+5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1183-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.1183-2A>C
|
|
|
|
NM_000018.4(ACADVL):c.1183-4T>A
|
rs2142984151
|
|
|
NM_000018.4(ACADVL):c.1183-7A>G
|
rs750441118
|
|
|
NM_000018.4(ACADVL):c.1185C>G (p.Ser395=)
|
|
|
|
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)
|
rs2071337130
|
|
|
NM_000018.4(ACADVL):c.1192_1206dup (p.Tyr398_Ala402dup)
|
rs2142984192
|
|
|
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)
|
rs1597533847
|
|
|
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
|
|
|
|
NM_000018.4(ACADVL):c.119A>G (p.Tyr40Cys)
|
|
|
|
NM_000018.4(ACADVL):c.11C>A (p.Ala4Asp)
|
rs1019684161
|
|
|
NM_000018.4(ACADVL):c.1200G>A (p.Val400=)
|
rs1597533902
|
|
|
NM_000018.4(ACADVL):c.1200G>C (p.Val400=)
|
rs1597533902
|
|
|
NM_000018.4(ACADVL):c.1205C>T (p.Ala402Val)
|
rs727503793
|
|
|
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)
|
|
|
|
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)
|
rs2071338251
|
|
|
NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)
|
rs1597533984
|
|
|
NM_000018.4(ACADVL):c.1224C>A (p.Ala408=)
|
|
|
|
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)
|
rs113994169
|
|
|
NM_000018.4(ACADVL):c.1227G>C (p.Thr409=)
|
|
|
|
NM_000018.4(ACADVL):c.1233C>G (p.Phe411Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1242G>A (p.Glu414=)
|
rs2142984490
|
|
|
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
|
|
|
|
NM_000018.4(ACADVL):c.1245C>A (p.Ala415=)
|
rs1481416358
|
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
|
NM_000018.4(ACADVL):c.1248C>T (p.Ala416=)
|
|
|
|
NM_000018.4(ACADVL):c.1250T>G (p.Ile417Ser)
|
rs2071340219
|
|
|
NM_000018.4(ACADVL):c.1251C>T (p.Ile417=)
|
|
|
|
NM_000018.4(ACADVL):c.1251del (p.Ser418fs)
|
rs2142984544
|
|
|
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)
|
rs1555528737
|
|
|
NM_000018.4(ACADVL):c.1257A>G (p.Lys419=)
|
rs2142984575
|
|
|
NM_000018.4(ACADVL):c.1263T>C (p.Phe421=)
|
|
|
|
NM_000018.4(ACADVL):c.1266C>T (p.Gly422=)
|
|
|
|
NM_000018.4(ACADVL):c.1268C>T (p.Ser423Leu)
|
rs1451455641
|
|
|
NM_000018.4(ACADVL):c.1269+10C>T
|
rs1555528738
|
|
|
NM_000018.4(ACADVL):c.1269+11A>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+13G>C
|
|
|
|
NM_000018.4(ACADVL):c.1269+14C>A
|
|
|
|
NM_000018.4(ACADVL):c.1269+15A>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+16T>C
|
rs2142984714
|
|
|
NM_000018.4(ACADVL):c.1269+1G>A
|
rs773401248
|
|
|
NM_000018.4(ACADVL):c.1269+1del
|
rs2071340733
|
|
|
NM_000018.4(ACADVL):c.1269+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1269+22dup
|
rs780870246
|
|
|
NM_000018.4(ACADVL):c.1269+7T>G
|
|
|
|
NM_000018.4(ACADVL):c.1269+9C>G
|
rs2142984643
|
|
|
NM_000018.4(ACADVL):c.126G>T (p.Gly42=)
|
|
|
|
NM_000018.4(ACADVL):c.1270-17C>G
|
|
|
|
NM_000018.4(ACADVL):c.1270-17C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-18T>C
|
|
|
|
NM_000018.4(ACADVL):c.1270-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.1270-9T>G
|
rs2142984921
|
|
|
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)
|
|
|
|
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)
|
rs1419478766
|
|
|
NM_000018.4(ACADVL):c.1278C>T (p.Ala426=)
|
|
|
|
NM_000018.4(ACADVL):c.127G>A (p.Gly43Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)
|
rs1057516519
|
|
|
NM_000018.4(ACADVL):c.1283del (p.Lys428fs)
|
rs1555528745
|
|
|
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)
|
rs999226548
|
|
|
NM_000018.4(ACADVL):c.128del (p.Gly43fs)
|
rs2071123075
|
|
|
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
|
|
|
|
NM_000018.4(ACADVL):c.1291G>C (p.Asp431His)
|
rs781658827
|
|
|
NM_000018.4(ACADVL):c.1293T>C (p.Asp431=)
|
rs2142985083
|
|
|
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)
|
rs1597534677
|
|
|
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)
|
rs727503789
|
|
|
NM_000018.4(ACADVL):c.1308C>A (p.Ile436=)
|
rs2142985123
|
|
|
NM_000018.4(ACADVL):c.1308C>T (p.Ile436=)
|
|
|
|
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)
|
rs2071345821
|
|
|
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)
|
rs748450834
|
|
|
NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)
|
|
|
|
NM_000018.4(ACADVL):c.1314G>A (p.Gly438=)
|
rs2142985177
|
|
|
NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg)
|
rs2071346311
|
|
|
NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys)
|
rs2071346311
|
|
|
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala)
|
rs533055438
|
|
|
NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val)
|
rs533055438
|
|
|
NM_000018.4(ACADVL):c.1316del (p.Gly439fs)
|
rs748077880
|
|
|
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)
|
rs748077880
|
|
|
NM_000018.4(ACADVL):c.1317T>A (p.Gly439=)
|
rs2142985210
|
|
|
NM_000018.4(ACADVL):c.1317T>C (p.Gly439=)
|
rs2142985210
|
|
|
NM_000018.4(ACADVL):c.1317dup (p.Met440fs)
|
rs1567567440
|
|
|
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
|
|
|
|
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)
|
rs2071346777
|
|
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
|
NM_000018.4(ACADVL):c.1323C>T (p.Gly441=)
|
|
|
|
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)
|
rs886043236
|
|
|
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)
|
rs886043236
|
|
|
NM_000018.4(ACADVL):c.132C>T (p.Ala44=)
|
rs1237892223
|
|
|
NM_000018.4(ACADVL):c.1332+10G>C
|
rs763921736
|
|
|
NM_000018.4(ACADVL):c.1332+11G>T
|
|
|
|
NM_000018.4(ACADVL):c.1332+16C>T
|
|
|
|
NM_000018.4(ACADVL):c.1332+19C>G
|
|
|
|
NM_000018.4(ACADVL):c.1332+2T>C
|
|
|
|
NM_000018.4(ACADVL):c.1332+5A>G
|
|
|
|
NM_000018.4(ACADVL):c.1332+7G>A
|
rs1382340897
|
|
|
NM_000018.4(ACADVL):c.1332+9_1332+10insTCC
|
|
|
|
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)
|
rs1597534796
|
|
|
NM_000018.4(ACADVL):c.1333-10C>T
|
|
|
|
NM_000018.4(ACADVL):c.1333-16T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-17G>A
|
|
|
|
NM_000018.4(ACADVL):c.1333-18T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-20T>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-21_1333-20del
|
|
|
|
NM_000018.4(ACADVL):c.1333-3T>G
|
rs1057523216
|
|
|
NM_000018.4(ACADVL):c.1333-5G>T
|
|
|
|
NM_000018.4(ACADVL):c.1333-7G>A
|
rs1228196483
|
|
|
NM_000018.4(ACADVL):c.1333-7G>C
|
|
|
|
NM_000018.4(ACADVL):c.1333-8T>C
|
|
|
|
NM_000018.4(ACADVL):c.1335A>G (p.Glu445=)
|
|
|
|
NM_000018.4(ACADVL):c.1338T>C (p.Pro446=)
|
rs2142985783
|
|
|
NM_000018.4(ACADVL):c.1340G>A (p.Gly447Glu)
|
rs1555528779
|
|
|
NM_000018.4(ACADVL):c.1342G>A (p.Val448Ile)
|
rs2071353533
|
|
|
NM_000018.4(ACADVL):c.1342G>C (p.Val448Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1347G>A (p.Glu449=)
|
|
|
|
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)
|
|
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
|
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)
|
rs794727112
|
|
|
NM_000018.4(ACADVL):c.1370T>C (p.Ile457Thr)
|
rs1392710608
|
|
|
NM_000018.4(ACADVL):c.1374C>T (p.Phe458=)
|
|
|
|
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)
|
rs766742117
|
|
|
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)
|
rs751995154
|
|
|
NM_000018.4(ACADVL):c.1377G>C (p.Arg459=)
|
rs2142985989
|
|
|
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)
|
|
|
|
NM_000018.4(ACADVL):c.138+10C>A
|
rs1057523013
|
|
|
NM_000018.4(ACADVL):c.138+10C>T
|
rs1057523013
|
|
|
NM_000018.4(ACADVL):c.138+11G>T
|
|
|
|
NM_000018.4(ACADVL):c.138+15C>T
|
|
|
|
NM_000018.4(ACADVL):c.138+16C>A
|
|
|
|
NM_000018.4(ACADVL):c.138+17T>C
|
rs2142961713
|
|
|
NM_000018.4(ACADVL):c.138+2dup
|
rs1555527548
|
|
|
NM_000018.4(ACADVL):c.138+5G>A
|
rs2071124642
|
|
|
NM_000018.4(ACADVL):c.138+7C>T
|
rs1462406529
|
|
|
NM_000018.4(ACADVL):c.1380C>T (p.Ile460=)
|
rs2071355303
|
|
|
NM_000018.4(ACADVL):c.1382T>C (p.Phe461Ser)
|
rs755432945
|
|
|
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)
|
rs2071355499
|
|
|
NM_000018.4(ACADVL):c.1389G>C (p.Gly463=)
|
rs377305356
|
|
|
NM_000018.4(ACADVL):c.1389del (p.Thr464fs)
|
rs398123082
|
|
|
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs)
|
rs398123082
|
|
|
NM_000018.4(ACADVL):c.139-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.139-12C>G
|
|
|
|
NM_000018.4(ACADVL):c.139-14G>C
|
rs1015495051
|
|
|
NM_000018.4(ACADVL):c.139-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-16C>A
|
|
|
|
NM_000018.4(ACADVL):c.139-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-1G>A
|
|
|
|
NM_000018.4(ACADVL):c.139-1G>C
|
|
|
|
NM_000018.4(ACADVL):c.139-1G>T
|
rs1597518019
|
|
|
NM_000018.4(ACADVL):c.139-1_139delinsTT
|
rs2142963941
|
|
|
NM_000018.4(ACADVL):c.139-2A>G
|
|
|
|
NM_000018.4(ACADVL):c.139-2A>T
|
|
|
|
NM_000018.4(ACADVL):c.139-3C>T
|
rs1555527630
|
|
|
NM_000018.4(ACADVL):c.139-5C>G
|
rs769138546
|
|
|
NM_000018.4(ACADVL):c.139-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.139-7T>C
|
rs2142963859
|
|
|
NM_000018.4(ACADVL):c.1391C>T (p.Thr464Ile)
|
rs1555528796
|
|
|
NM_000018.4(ACADVL):c.1395T>C (p.Asn465=)
|
rs1301241478
|
|
|
NM_000018.4(ACADVL):c.1398C>T (p.Asp466=)
|
rs2142986089
|
|
|
NM_000018.4(ACADVL):c.13C>G (p.Arg5Gly)
|
rs747672165
|
|
|
NM_000018.4(ACADVL):c.1400T>A (p.Ile467Asn)
|
rs2142986109
|
|
|
NM_000018.4(ACADVL):c.1407G>A (p.Arg469=)
|
rs1597535653
|
|
|
NM_000018.4(ACADVL):c.1409del (p.Leu470fs)
|
rs2071356603
|
|
|
NM_000018.4(ACADVL):c.1410G>C (p.Leu470=)
|
rs1281251073
|
|
|
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1416G>C (p.Val472=)
|
rs778848546
|
|
|
NM_000018.4(ACADVL):c.141G>T (p.Leu47=)
|
|
|
|
NM_000018.4(ACADVL):c.1420C>T (p.Leu474=)
|
rs771882915
|
|
|
NM_000018.4(ACADVL):c.1422G>A (p.Leu474=)
|
rs2142986233
|
|
|
NM_000018.4(ACADVL):c.1427G>A (p.Gly476Asp)
|
rs2071357482
|
|
|
NM_000018.4(ACADVL):c.142G>A (p.Ala48Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1434+11_1434+12del
|
rs1567567959
|
|
|
NM_000018.4(ACADVL):c.1434+12A>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+14T>A
|
rs202217537
|
|
|
NM_000018.4(ACADVL):c.1434+14T>C
|
rs202217537
|
|
|
NM_000018.4(ACADVL):c.1434+15dup
|
|
|
|
NM_000018.4(ACADVL):c.1434+18G>A
|
|
|
|
NM_000018.4(ACADVL):c.1434+19T>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>C
|
|
|
|
NM_000018.4(ACADVL):c.1434+20G>T
|
|
|
|
NM_000018.4(ACADVL):c.1434+6_1434+8dup
|
|
|
|
NM_000018.4(ACADVL):c.1435-15C>A
|
|
|
|
NM_000018.4(ACADVL):c.1435-15C>T
|
rs548935465
|
|
|
NM_000018.4(ACADVL):c.1435-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-19G>A
|
rs1223218362
|
|
|
NM_000018.4(ACADVL):c.1435-19G>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-20T>C
|
|
|
|
NM_000018.4(ACADVL):c.1435-3T>A
|
|
|
|
NM_000018.4(ACADVL):c.1435-4A>G
|
|
|
|
NM_000018.4(ACADVL):c.1435-4A>T
|
rs1412310624
|
|
|
NM_000018.4(ACADVL):c.1435-4del
|
|
|
|
NM_000018.4(ACADVL):c.1435-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.1435-9C>A
|
rs1280800189
|
|
|
NM_000018.4(ACADVL):c.1435-9C>T
|
rs1280800189
|
|
|
NM_000018.4(ACADVL):c.1435G>A (p.Asp479Asn)
|
rs2071362937
|
|
|
NM_000018.4(ACADVL):c.1437C>T (p.Asp479=)
|
rs779807335
|
|
|
NM_000018.4(ACADVL):c.143C>T (p.Ala48Val)
|
rs2142963990
|
|
|
NM_000018.4(ACADVL):c.1445A>G (p.Lys482Arg)
|
rs2142986762
|
|
|
NM_000018.4(ACADVL):c.1446G>A (p.Lys482=)
|
|
|
|
NM_000018.4(ACADVL):c.1452C>T (p.Leu484=)
|
rs1555528820
|
|
|
NM_000018.4(ACADVL):c.1455T>C (p.Ser485=)
|
|
|
|
NM_000018.4(ACADVL):c.1455dup (p.Gly486fs)
|
|
|
|
NM_000018.4(ACADVL):c.1457G>T (p.Gly486Val)
|
|
|
|
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs)
|
rs1567560601
|
|
|
NM_000018.4(ACADVL):c.1464C>G (p.Gly488=)
|
|
|
|
NM_000018.4(ACADVL):c.1467T>C (p.Ser489=)
|
|
|
|
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)
|
rs771117714
|
|
|
NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)
|
|
|
|
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)
|
|
|
|
NM_000018.4(ACADVL):c.1475dup (p.Asn493fs)
|
|
|
|
NM_000018.4(ACADVL):c.1476G>A (p.Lys492=)
|
rs764757180
|
|
|
NM_000018.4(ACADVL):c.1482C>T (p.Pro494=)
|
rs2071364748
|
|
|
NM_000018.4(ACADVL):c.1486G>A (p.Gly496Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)
|
|
|
|
NM_000018.4(ACADVL):c.1496G>C (p.Gly499Ala)
|
rs764943140
|
|
|
NM_000018.4(ACADVL):c.1496G>T (p.Gly499Val)
|
rs764943140
|
|
|
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del)
|
rs762619071
|
|
|
NM_000018.4(ACADVL):c.1503G>C (p.Leu501=)
|
rs2142987026
|
|
|
NM_000018.4(ACADVL):c.1508G>C (p.Gly503Ala)
|
rs2142987050
|
|
|
NM_000018.4(ACADVL):c.1508del (p.Gly503fs)
|
rs1214222702
|
|
|
NM_000018.4(ACADVL):c.1510G>A (p.Glu504Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1510G>C (p.Glu504Gln)
|
rs376795010
|
|
|
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)
|
|
|
|
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
|
|
|
|
NM_000018.4(ACADVL):c.1527G>A (p.Leu509=)
|
rs1447518560
|
|
|
NM_000018.4(ACADVL):c.1530G>A (p.Arg510=)
|
rs2142987170
|
|
|
NM_000018.4(ACADVL):c.1532+10G>A
|
rs775913504
|
|
|
NM_000018.4(ACADVL):c.1532+19C>T
|
|
|
|
NM_000018.4(ACADVL):c.1532+20C>G
|
rs1291717212
|
|
|
NM_000018.4(ACADVL):c.1532+2T>C
|
rs111851815
|
|
|
NM_000018.4(ACADVL):c.1532+6C>T
|
rs2071368248
|
|
|
NM_000018.4(ACADVL):c.1532+7T>A
|
rs534469222
|
|
|
NM_000018.4(ACADVL):c.1532+7T>C
|
rs534469222
|
|
|
NM_000018.4(ACADVL):c.1533-12T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-13C>T
|
|
|
|
NM_000018.4(ACADVL):c.1533-15C>T
|
rs2142987494
|
|
|
NM_000018.4(ACADVL):c.1533-2A>G
|
|
|
|
NM_000018.4(ACADVL):c.1533-4T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-6T>C
|
|
|
|
NM_000018.4(ACADVL):c.1533-7del
|
|
|
|
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=)
|
rs886038214
|
|
|
NM_000018.4(ACADVL):c.1536G>A (p.Arg512=)
|
|
|
|
NM_000018.4(ACADVL):c.1536G>C (p.Arg512=)
|
|
|
|
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)
|
rs370282954
|
|
|
NM_000018.4(ACADVL):c.1552G>C (p.Gly518Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1557G>A (p.Leu519=)
|
|
|
|
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)
|
|
|
|
NM_000018.4(ACADVL):c.156A>C (p.Ser52=)
|
|
|
|
NM_000018.4(ACADVL):c.156A>G (p.Ser52=)
|
|
|
|
NM_000018.4(ACADVL):c.1572T>C (p.Leu524=)
|
|
|
|
NM_000018.4(ACADVL):c.1585T>C (p.Leu529=)
|
rs2142987882
|
|
|
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)
|
rs2142987900
|
|
|
NM_000018.4(ACADVL):c.1605+11A>T
|
|
|
|
NM_000018.4(ACADVL):c.1605+12G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+13G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+15G>T
|
|
|
|
NM_000018.4(ACADVL):c.1605+1G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+1G>C
|
rs2142988018
|
|
|
NM_000018.4(ACADVL):c.1605+1G>T
|
rs2142988018
|
|
|
NM_000018.4(ACADVL):c.1605+20G>A
|
|
|
|
NM_000018.4(ACADVL):c.1605+2T>C
|
rs1597537351
|
|
|
NM_000018.4(ACADVL):c.1605+5_1605+6inv
|
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7delinsCC
|
rs1064795676
|
|
|
NM_000018.4(ACADVL):c.1605+6_1605+7inv
|
|
|
|
NM_000018.4(ACADVL):c.1605+8G>A
|
rs1329414728
|
|
|
NM_000018.4(ACADVL):c.1605+9C>T
|
rs1370192669
|
|
|
NM_000018.4(ACADVL):c.1606-11C>T
|
|
|
|
NM_000018.4(ACADVL):c.1606-16G>A
|
|
|
|
NM_000018.4(ACADVL):c.1606-17T>C
|
|
|
|
NM_000018.4(ACADVL):c.1606-19A>G
|
|
|
|
NM_000018.4(ACADVL):c.1606-5T>C
|
|
|
|
NM_000018.4(ACADVL):c.1606-5_1606-4del
|
|
|
|
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
|
|
|
|
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)
|
rs201350598
|
|
|
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)
|
rs781613690
|
|
|
NM_000018.4(ACADVL):c.1616C>T (p.Ala539Val)
|
|
|
|
NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)
|
|
|
|
NM_000018.4(ACADVL):c.161C>T (p.Ser54Phe)
|
|
|
|
NM_000018.4(ACADVL):c.1620G>A (p.Leu540=)
|
|
|
|
NM_000018.4(ACADVL):c.1623G>A (p.Glu541=)
|
|
|
|
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)
|
|
|
|
NM_000018.4(ACADVL):c.162C>T (p.Ser54=)
|
rs2142964086
|
|
|
NM_000018.4(ACADVL):c.1630G>A (p.Ala544Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs)
|
rs1131691553
|
|
|
NM_000018.4(ACADVL):c.1636del (p.Val546fs)
|
|
|
|
NM_000018.4(ACADVL):c.1638G>C (p.Val546=)
|
rs2142988749
|
|
|
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)
|
rs2071384107
|
|
|
NM_000018.4(ACADVL):c.1640del (p.Val547fs)
|
|
|
|
NM_000018.4(ACADVL):c.1641G>A (p.Val547=)
|
|
|
|
NM_000018.4(ACADVL):c.1643A>T (p.Glu548Val)
|
rs2071384243
|
|
|
NM_000018.4(ACADVL):c.1644G>A (p.Glu548=)
|
rs2071384402
|
|
|
NM_000018.4(ACADVL):c.1650G>A (p.Lys550=)
|
|
|
|
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)
|
|
|
|
NM_000018.4(ACADVL):c.1657A>C (p.Lys553Gln)
|
rs1555528957
|
|
|
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)
|
|
|
|
NM_000018.4(ACADVL):c.165C>T (p.His55=)
|
rs1303022654
|
|
|
NM_000018.4(ACADVL):c.1662C>T (p.His554=)
|
|
|
|
NM_000018.4(ACADVL):c.1668G>A (p.Lys556=)
|
rs1295605212
|
|
|
NM_000018.4(ACADVL):c.1673T>C (p.Ile558Thr)
|
rs1256129137
|
|
|
NM_000018.4(ACADVL):c.1678+14A>G
|
|
|
|
NM_000018.4(ACADVL):c.1678+17C>G
|
rs776565824
|
|
|
NM_000018.4(ACADVL):c.1678+17C>T
|
|
|
|
NM_000018.4(ACADVL):c.1678+18C>T
|
|
|
|
NM_000018.4(ACADVL):c.1678+3_1678+6del
|
rs759135941
|
|
|
NM_000018.4(ACADVL):c.1678+7G>A
|
rs771685940
|
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsAG
|
rs2142989035
|
|
|
NM_000018.4(ACADVL):c.1678+9_1678+10delinsCG
|
rs2142989035
|
|
|
NM_000018.4(ACADVL):c.1679-10T>C
|
|
|
|
NM_000018.4(ACADVL):c.1679-11C>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-13A>C
|
rs768421738
|
|
|
NM_000018.4(ACADVL):c.1679-13A>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.1679-18A>C
|
|
|
|
NM_000018.4(ACADVL):c.1679-19C>T
|
|
|
|
NM_000018.4(ACADVL):c.1679-1G>A
|
|
|
|
NM_000018.4(ACADVL):c.1679-5G>A
|
rs1302758825
|
|
|
NM_000018.4(ACADVL):c.1679-5del
|
rs1555528999
|
|
|
NM_000018.4(ACADVL):c.1679-7C>T
|
rs776276526
|
|
|
NM_000018.4(ACADVL):c.167C>A (p.Pro56His)
|
rs2142964131
|
|
|
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
|
|
|
|
NM_000018.4(ACADVL):c.1683A>G (p.Glu561=)
|
rs1597539259
|
|
|
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs)
|
rs2071393587
|
|
|
NM_000018.4(ACADVL):c.168C>A (p.Pro56=)
|
|
|
|
NM_000018.4(ACADVL):c.168C>T (p.Pro56=)
|
rs544122648
|
|
|
NM_000018.4(ACADVL):c.1693C>T (p.Leu565=)
|
rs2142989804
|
|
|
NM_000018.4(ACADVL):c.1695G>T (p.Leu565=)
|
rs1279657316
|
|
|
NM_000018.4(ACADVL):c.1698G>A (p.Gln566=)
|
|
|
|
NM_000018.4(ACADVL):c.1699C>T (p.Arg567Trp)
|
rs864321651
|
|
|
NM_000018.4(ACADVL):c.1701_1702delinsAG (p.Leu568Val)
|
rs2142989836
|
|
|
NM_000018.4(ACADVL):c.1704G>A (p.Leu568=)
|
rs2142989842
|
|
|
NM_000018.4(ACADVL):c.1707A>C (p.Ala569=)
|
|
|
|
NM_000018.4(ACADVL):c.1710C>A (p.Asp570Glu)
|
rs759638134
|
|
|
NM_000018.4(ACADVL):c.1716C>G (p.Ala572=)
|
|
|
|
NM_000018.4(ACADVL):c.1716C>T (p.Ala572=)
|
rs2142989897
|
|
|
NM_000018.4(ACADVL):c.1719C>G (p.Ile573Met)
|
|
|
|
NM_000018.4(ACADVL):c.171T>A (p.Ser57=)
|
|
|
|
NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn)
|
|
|
|
NM_000018.4(ACADVL):c.1722C>T (p.Asp574=)
|
rs2142989956
|
|
|
NM_000018.4(ACADVL):c.1728T>C (p.Tyr576=)
|
|
|
|
NM_000018.4(ACADVL):c.1732A>G (p.Met578Val)
|
|
|
|
NM_000018.4(ACADVL):c.1736del (p.Val579fs)
|
|
|
|
NM_000018.4(ACADVL):c.1738del (p.Val580fs)
|
|
|
|
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs)
|
rs2142990005
|
|
|
NM_000018.4(ACADVL):c.1740G>T (p.Val580=)
|
|
|
|
NM_000018.4(ACADVL):c.1745T>C (p.Leu582Pro)
|
rs2142990030
|
|
|
NM_000018.4(ACADVL):c.1746C>T (p.Leu582=)
|
|
|
|
NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)
|
|
|
|
NM_000018.4(ACADVL):c.1749G>A (p.Ser583=)
|
rs771471327
|
|
|
NM_000018.4(ACADVL):c.174C>T (p.Asp58=)
|
|
|
|
NM_000018.4(ACADVL):c.1751+12G>C
|
|
|
|
NM_000018.4(ACADVL):c.1751+14C>T
|
|
|
|
NM_000018.4(ACADVL):c.1751+16G>C
|
|
|
|
NM_000018.4(ACADVL):c.1751+16G>T
|
|
|
|
NM_000018.4(ACADVL):c.1751+1G>A
|
rs1567569262
|
|
|
NM_000018.4(ACADVL):c.1751+2T>A
|
rs1597539537
|
|
|
NM_000018.4(ACADVL):c.1751+2T>C
|
rs1597539537
|
|
|
NM_000018.4(ACADVL):c.1751+7A>G
|
|
|
|
NM_000018.4(ACADVL):c.1751+7_1751+9del
|
|
|
|
NM_000018.4(ACADVL):c.1751+9G>C
|
|
|
|
NM_000018.4(ACADVL):c.1752-10T>C
|
|
|
|
NM_000018.4(ACADVL):c.1752-14C>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-15C>G
|
|
|
|
NM_000018.4(ACADVL):c.1752-19A>G
|
|
|
|
NM_000018.4(ACADVL):c.1752-19A>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-20C>A
|
|
|
|
NM_000018.4(ACADVL):c.1752-2A>G
|
|
|
|
NM_000018.4(ACADVL):c.1752-2del
|
rs1555529044
|
|
|
NM_000018.4(ACADVL):c.1752-4C>T
|
|
|
|
NM_000018.4(ACADVL):c.1752-5G>A
|
|
|
|
NM_000018.4(ACADVL):c.1752-8C>A
|
|
|
|
NM_000018.4(ACADVL):c.1754C>A (p.Ala585Asp)
|
rs374729641
|
|
|
NM_000018.4(ACADVL):c.1755C>T (p.Ala585=)
|
rs886038215
|
|
|
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)
|
|
|
|
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
|
|
|
|
NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys)
|
|
|
|
NM_000018.4(ACADVL):c.1762T>C (p.Ser588Pro)
|
rs780655964
|
|
|
NM_000018.4(ACADVL):c.1764C>T (p.Ser588=)
|
|
|
|
NM_000018.4(ACADVL):c.1766T>C (p.Leu589Pro)
|
rs1567569494
|
|
|
NM_000018.4(ACADVL):c.1769G>A (p.Ser590Asn)
|
|
|
|
NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1770T>C (p.Ser590=)
|
|
|
|
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs)
|
rs1555529048
|
|
|
NM_000018.4(ACADVL):c.1773G>A (p.Glu591=)
|
|
|
|
NM_000018.4(ACADVL):c.1776C>T (p.Gly592=)
|
|
|
|
NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.1782C>G (p.Pro594=)
|
rs1373644425
|
|
|
NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met)
|
|
|
|
NM_000018.4(ACADVL):c.1788C>G (p.Ala596=)
|
rs1597540282
|
|
|
NM_000018.4(ACADVL):c.17T>C (p.Met6Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1806C>G (p.Leu602=)
|
|
|
|
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer)
|
rs796051917
|
|
|
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)
|
rs2142990894
|
|
|
NM_000018.4(ACADVL):c.180G>A (p.Leu60=)
|
|
|
|
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)
|
rs886053372
|
|
|
NM_000018.4(ACADVL):c.1814C>G (p.Thr605Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1815C>G (p.Thr605=)
|
rs2142990923
|
|
|
NM_000018.4(ACADVL):c.1815C>T (p.Thr605=)
|
rs2142990923
|
|
|
NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter)
|
rs2071404265
|
|
|
NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)
|
|
|
|
NM_000018.4(ACADVL):c.1821T>C (p.Cys607=)
|
|
|
|
NM_000018.4(ACADVL):c.1825G>C (p.Glu609Gln)
|
rs398123086
|
|
|
NM_000018.4(ACADVL):c.1826A>C (p.Glu609Ala)
|
rs908625615
|
|
|
NM_000018.4(ACADVL):c.1828-14T>C
|
|
|
|
NM_000018.4(ACADVL):c.1828-17T>G
|
|
|
|
NM_000018.4(ACADVL):c.1828-18C>G
|
|
|
|
NM_000018.4(ACADVL):c.1828-4C>A
|
|
|
|
NM_000018.4(ACADVL):c.1828-7_1828-5dup
|
|
|
|
NM_000018.4(ACADVL):c.1832C>T (p.Ala611Val)
|
rs2071408325
|
|
|
NM_000018.4(ACADVL):c.1835C>G (p.Ala612Gly)
|
rs374898424
|
|
|
NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val)
|
|
|
|
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)
|
|
|
|
NM_000018.4(ACADVL):c.1838_1841dup (p.Ile614fs)
|
|
|
|
NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)
|
|
|
|
NM_000018.4(ACADVL):c.1842C>G (p.Ile614Met)
|
|
|
|
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)
|
rs1057520507
|
|
|
NM_000018.4(ACADVL):c.1848G>C (p.Glu616Asp)
|
rs372886650
|
|
|
NM_000018.4(ACADVL):c.1855G>A (p.Ala619Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1857C>G (p.Ala619=)
|
rs375730795
|
|
|
NM_000018.4(ACADVL):c.1857dup (p.Ala620fs)
|
|
|
|
NM_000018.4(ACADVL):c.1861C>T (p.Leu621=)
|
|
|
|
NM_000018.4(ACADVL):c.1865A>G (p.Gln622Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1870G>C (p.Asp624His)
|
rs1597541044
|
|
|
NM_000018.4(ACADVL):c.1872C>T (p.Asp624=)
|
|
|
|
NM_000018.4(ACADVL):c.1873C>A (p.Pro625Thr)
|
|
|
|
NM_000018.4(ACADVL):c.1873C>T (p.Pro625Ser)
|
rs377044444
|
|
|
NM_000018.4(ACADVL):c.1875C>A (p.Pro625=)
|
|
|
|
NM_000018.4(ACADVL):c.1875C>G (p.Pro625=)
|
rs2071410938
|
|
|
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)
|
rs1555529186
|
|
|
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.1881G>C (p.Gln627His)
|
rs931018661
|
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
|
NM_000018.4(ACADVL):c.1887G>A (p.Glu629=)
|
|
|
|
NM_000018.4(ACADVL):c.188A>G (p.Lys63Arg)
|
|
|
|
NM_000018.4(ACADVL):c.1890C>G (p.Leu630=)
|
|
|
|
NM_000018.4(ACADVL):c.1895G>A (p.Arg632His)
|
|
|
|
NM_000018.4(ACADVL):c.1899C>T (p.Asn633=)
|
rs2142991198
|
|
|
NM_000018.4(ACADVL):c.189A>G (p.Lys63=)
|
rs727503790
|
|
|
NM_000018.4(ACADVL):c.18G>A (p.Met6Ile)
|
|
|
|
NM_000018.4(ACADVL):c.1901T>G (p.Phe634Cys)
|
rs2071412683
|
|
|
NM_000018.4(ACADVL):c.1908C>T (p.Ser636=)
|
|
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
|
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs)
|
rs2071413180
|
|
|
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)
|
rs2142964399
|
|
|
NM_000018.4(ACADVL):c.1911C>T (p.Ile637=)
|
rs2142991217
|
|
|
NM_000018.4(ACADVL):c.1914C>A (p.Ser638=)
|
|
|
|
NM_000018.4(ACADVL):c.1917G>A (p.Lys639=)
|
|
|
|
NM_000018.4(ACADVL):c.1921T>C (p.Leu641=)
|
|
|
|
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)
|
rs1452402269
|
|
|
NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)
|
|
|
|
NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)
|
|
|
|
NM_000018.4(ACADVL):c.1929G>A (p.Glu643=)
|
rs1208010882
|
|
|
NM_000018.4(ACADVL):c.192A>G (p.Lys64=)
|
rs2071148553
|
|
|
NM_000018.4(ACADVL):c.192del (p.Lys64fs)
|
rs771055189
|
|
|
NM_000018.4(ACADVL):c.192dup (p.Pro65fs)
|
rs771055189
|
|
|
NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp)
|
|
|
|
NM_000018.4(ACADVL):c.1931G>C (p.Arg644Pro)
|
rs774762384
|
|
|
NM_000018.4(ACADVL):c.1932G>C (p.Arg644=)
|
rs886053375
|
|
|
NM_000018.4(ACADVL):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
|
NM_000018.4(ACADVL):c.1944C>T (p.Val648=)
|
rs1171256173
|
|
|
NM_000018.4(ACADVL):c.1953C>A (p.Asn651Lys)
|
rs1417091241
|
|
|
NM_000018.4(ACADVL):c.1953C>T (p.Asn651=)
|
rs1417091241
|
|
|
NM_000018.4(ACADVL):c.1955C>T (p.Pro652Leu)
|
|
|
|
NM_000018.4(ACADVL):c.1956A>G (p.Pro652=)
|
rs2071415834
|
|
|
NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro)
|
|
|
|
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser)
|
rs2071416769
|
|
|
NM_000018.4(ACADVL):c.196G>A (p.Ala66Thr)
|
rs142745084
|
|
|
NM_000018.4(ACADVL):c.197C>G (p.Ala66Gly)
|
rs2071149098
|
|
|
NM_000018.4(ACADVL):c.198C>T (p.Ala66=)
|
rs2142964530
|
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
|
NM_000018.4(ACADVL):c.200_204+19del
|
|
|
|
NM_000018.4(ACADVL):c.201_204+13del
|
|
|
|
NM_000018.4(ACADVL):c.204+11C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.204+12C>T
|
|
|
|
NM_000018.4(ACADVL):c.204+13G>C
|
|
|
|
NM_000018.4(ACADVL):c.204+14A>G
|
|
|
|
NM_000018.4(ACADVL):c.204+18C>A
|
|
|
|
NM_000018.4(ACADVL):c.204+18C>T
|
rs2071151141
|
|
|
NM_000018.4(ACADVL):c.204+19A>G
|
|
|
|
NM_000018.4(ACADVL):c.204+19A>T
|
|
|
|
NM_000018.4(ACADVL):c.204+1G>T
|
|
|
|
NM_000018.4(ACADVL):c.204+8G>T
|
|
|
|
NM_000018.4(ACADVL):c.204+9C>T
|
|
|
|
NM_000018.4(ACADVL):c.204G>A (p.Ala68=)
|
rs756969179
|
|
|
NM_000018.4(ACADVL):c.205-10C>T
|
rs2142965181
|
|
|
NM_000018.4(ACADVL):c.205-12C>T
|
rs2142965144
|
|
|
NM_000018.4(ACADVL):c.205-1G>C
|
rs2142965332
|
|
|
NM_000018.4(ACADVL):c.205-20A>C
|
|
|
|
NM_000018.4(ACADVL):c.205-2A>G
|
rs1597518954
|
|
|
NM_000018.4(ACADVL):c.205-2A>T
|
rs1597518954
|
|
|
NM_000018.4(ACADVL):c.205-3dup
|
rs2142965291
|
|
|
NM_000018.4(ACADVL):c.205-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.205-6G>C
|
|
|
|
NM_000018.4(ACADVL):c.205-6G>T
|
|
|
|
NM_000018.4(ACADVL):c.205-8_205-7delinsGC
|
rs2142965218
|
|
|
NM_000018.4(ACADVL):c.20C>A (p.Ala7Asp)
|
rs2142959240
|
|
|
NM_000018.4(ACADVL):c.210T>G (p.Ser70=)
|
|
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
|
NM_000018.4(ACADVL):c.216C>G (p.Ser72=)
|
|
|
|
NM_000018.4(ACADVL):c.221C>T (p.Ala74Val)
|
rs1470149388
|
|
|
NM_000018.4(ACADVL):c.222T>C (p.Ala74=)
|
|
|
|
NM_000018.4(ACADVL):c.233T>A (p.Phe78Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.234C>G (p.Phe78Leu)
|
rs2142965570
|
|
|
NM_000018.4(ACADVL):c.234C>T (p.Phe78=)
|
rs2142965570
|
|
|
NM_000018.4(ACADVL):c.236A>G (p.Lys79Arg)
|
rs2071157517
|
|
|
NM_000018.4(ACADVL):c.238G>C (p.Gly80Arg)
|
|
|
|
NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp)
|
rs1460278489
|
|
|
NM_000018.4(ACADVL):c.239G>C (p.Gly80Ala)
|
|
|
|
NM_000018.4(ACADVL):c.243G>A (p.Gln81=)
|
rs1318553246
|
|
|
NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile)
|
|
|
|
NM_000018.4(ACADVL):c.247A>G (p.Thr83Ala)
|
rs1339560413
|
|
|
NM_000018.4(ACADVL):c.24G>A (p.Ala8=)
|
|
|
|
NM_000018.4(ACADVL):c.24G>C (p.Ala8=)
|
rs903824712
|
|
|
NM_000018.4(ACADVL):c.250A>G (p.Thr84Ala)
|
|
|
|
NM_000018.4(ACADVL):c.252A>C (p.Thr84=)
|
|
|
|
NM_000018.4(ACADVL):c.257A>G (p.Gln86Arg)
|
|
|
|
NM_000018.4(ACADVL):c.258G>A (p.Gln86=)
|
|
|
|
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)
|
rs796051907
|
|
|
NM_000018.4(ACADVL):c.260T>G (p.Val87Gly)
|
rs796051907
|
|
|
NM_000018.4(ACADVL):c.266del (p.Pro89fs)
|
rs771808680
|
|
|
NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr)
|
|
|
|
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)
|
rs2071160066
|
|
|
NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu)
|
|
|
|
NM_000018.4(ACADVL):c.273G>C (p.Pro91=)
|
rs778993830
|
|
|
NM_000018.4(ACADVL):c.277+10G>A
|
rs1597519525
|
|
|
NM_000018.4(ACADVL):c.277+11G>A
|
|
|
|
NM_000018.4(ACADVL):c.277+14T>A
|
|
|
|
NM_000018.4(ACADVL):c.277+18C>A
|
rs2142966096
|
|
|
NM_000018.4(ACADVL):c.277+2T>C
|
rs1555527745
|
|
|
NM_000018.4(ACADVL):c.277+2T>G
|
rs1555527745
|
|
|
NM_000018.4(ACADVL):c.277+5G>A
|
rs2071160721
|
|
|
NM_000018.4(ACADVL):c.277+9del
|
|
|
|
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
|
|
|
|
NM_000018.4(ACADVL):c.277G>C (p.Val93Leu)
|
|
|
|
NM_000018.4(ACADVL):c.277G>T (p.Val93Leu)
|
rs768632138
|
|
|
NM_000018.4(ACADVL):c.278-10C>T
|
rs2071166695
|
|
|
NM_000018.4(ACADVL):c.278-12C>A
|
|
|
|
NM_000018.4(ACADVL):c.278-12C>G
|
|
|
|
NM_000018.4(ACADVL):c.278-12del
|
rs2142966623
|
|
|
NM_000018.4(ACADVL):c.278-14C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-16C>A
|
rs1428008149
|
|
|
NM_000018.4(ACADVL):c.278-16C>T
|
rs1428008149
|
|
|
NM_000018.4(ACADVL):c.278-18G>A
|
|
|
|
NM_000018.4(ACADVL):c.278-18G>T
|
|
|
|
NM_000018.4(ACADVL):c.278-1G>A
|
rs1298004609
|
|
|
NM_000018.4(ACADVL):c.278-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.278-31_278-18del
|
rs2071164779
|
|
|
NM_000018.4(ACADVL):c.278-4G>A
|
rs2142966745
|
|
|
NM_000018.4(ACADVL):c.278-9C>T
|
|
|
|
NM_000018.4(ACADVL):c.27C>T (p.Ser9=)
|
|
|
|
NM_000018.4(ACADVL):c.285C>A (p.Asn95Lys)
|
|
|
|
NM_000018.4(ACADVL):c.289G>A (p.Glu97Lys)
|
|
|
|
NM_000018.4(ACADVL):c.28T>C (p.Leu10=)
|
rs1265116066
|
|
|
NM_000018.4(ACADVL):c.294G>A (p.Gln98=)
|
rs794727695
|
|
|
NM_000018.4(ACADVL):c.294G>C (p.Gln98His)
|
rs794727695
|
|
|
NM_000018.4(ACADVL):c.294G>T (p.Gln98His)
|
rs794727695
|
|
|
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs)
|
rs2071168842
|
|
|
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs)
|
rs786204713
|
|
|
NM_000018.4(ACADVL):c.299A>G (p.Gln100Arg)
|
rs774141572
|
|
|
NM_000018.4(ACADVL):c.303del (p.Glu104fs)
|
rs2142967119
|
|
|
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)
|
rs1597520263
|
|
|
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs)
|
rs1057516979
|
|
|
NM_000018.4(ACADVL):c.309A>G (p.Lys103=)
|
rs2142967187
|
|
|
NM_000018.4(ACADVL):c.30G>A (p.Leu10=)
|
rs2142959363
|
|
|
NM_000018.4(ACADVL):c.312G>A (p.Glu104=)
|
|
|
|
NM_000018.4(ACADVL):c.313_316del (p.Leu105fs)
|
|
|
|
NM_000018.4(ACADVL):c.315G>T (p.Leu105=)
|
rs754620326
|
|
|
NM_000018.4(ACADVL):c.320del (p.Glu107fs)
|
|
|
|
NM_000018.4(ACADVL):c.324T>C (p.Pro108=)
|
rs764628802
|
|
|
NM_000018.4(ACADVL):c.324T>G (p.Pro108=)
|
rs764628802
|
|
|
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)
|
rs754207297
|
|
|
NM_000018.4(ACADVL):c.327G>A (p.Val109=)
|
|
|
|
NM_000018.4(ACADVL):c.329C>A (p.Ser110Tyr)
|
rs757608507
|
|
|
NM_000018.4(ACADVL):c.329C>T (p.Ser110Phe)
|
rs757608507
|
|
|
NM_000018.4(ACADVL):c.330C>T (p.Ser110=)
|
|
|
|
NM_000018.4(ACADVL):c.333T>C (p.Arg111=)
|
rs2142967414
|
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
|
NM_000018.4(ACADVL):c.336C>T (p.Phe112=)
|
rs537031882
|
|
|
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)
|
|
|
|
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu)
|
rs750653177
|
|
|
NM_000018.4(ACADVL):c.342+10G>A
|
|
|
|
NM_000018.4(ACADVL):c.342+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.342+17G>C
|
|
|
|
NM_000018.4(ACADVL):c.342+17G>T
|
rs368213180
|
|
|
NM_000018.4(ACADVL):c.342+1G>C
|
rs780020193
|
|
|
NM_000018.4(ACADVL):c.342+4A>C
|
|
|
|
NM_000018.4(ACADVL):c.343-10C>A
|
rs2142968470
|
|
|
NM_000018.4(ACADVL):c.343-10C>T
|
rs2142968470
|
|
|
NM_000018.4(ACADVL):c.343-11G>C
|
|
|
|
NM_000018.4(ACADVL):c.343-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.343-20G>C
|
|
|
|
NM_000018.4(ACADVL):c.343-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.343-7T>C
|
rs2142968501
|
|
|
NM_000018.4(ACADVL):c.343-8T>A
|
|
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
|
NM_000018.4(ACADVL):c.346G>A (p.Val116Met)
|
|
|
|
NM_000018.4(ACADVL):c.348G>A (p.Val116=)
|
|
|
|
NM_000018.4(ACADVL):c.351C>T (p.Asn117=)
|
rs779745734
|
|
|
NM_000018.4(ACADVL):c.357C>G (p.Pro119=)
|
|
|
|
NM_000018.4(ACADVL):c.357C>T (p.Pro119=)
|
rs1443253379
|
|
|
NM_000018.4(ACADVL):c.363G>A (p.Lys121=)
|
rs768219726
|
|
|
NM_000018.4(ACADVL):c.366T>C (p.Asn122=)
|
|
|
|
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)
|
|
|
|
NM_000018.4(ACADVL):c.369C>A (p.Asp123Glu)
|
rs374524648
|
|
|
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)
|
rs560912181
|
|
|
NM_000018.4(ACADVL):c.370G>T (p.Ala124Ser)
|
rs560912181
|
|
|
NM_000018.4(ACADVL):c.372T>C (p.Ala124=)
|
rs2142968911
|
|
|
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)
|
|
|
|
NM_000018.4(ACADVL):c.375G>A (p.Leu125=)
|
|
|
|
NM_000018.4(ACADVL):c.384G>A (p.Val128=)
|
|
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
|
NM_000018.4(ACADVL):c.387G>A (p.Glu129=)
|
|
|
|
NM_000018.4(ACADVL):c.388del (p.Glu130fs)
|
rs2142969054
|
|
|
NM_000018.4(ACADVL):c.390G>A (p.Glu130=)
|
rs2142969071
|
|
|
NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp)
|
|
|
|
NM_000018.4(ACADVL):c.393C>T (p.Thr131=)
|
rs754931255
|
|
|
NM_000018.4(ACADVL):c.396T>C (p.Thr132=)
|
rs1202646536
|
|
|
NM_000018.4(ACADVL):c.396T>G (p.Thr132=)
|
rs1202646536
|
|
|
NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser)
|
|
|
|
NM_000018.4(ACADVL):c.39G>A (p.Gln13=)
|
rs1481490993
|
|
|
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)
|
|
|
|
NM_000018.4(ACADVL):c.402G>A (p.Gln134=)
|
rs2142969249
|
|
|
NM_000018.4(ACADVL):c.403G>T (p.Gly135Cys)
|
|
|
|
NM_000018.4(ACADVL):c.40C>G (p.Leu14Val)
|
|
|
|
NM_000018.4(ACADVL):c.410del (p.Lys137fs)
|
|
|
|
NM_000018.4(ACADVL):c.411G>A (p.Lys137=)
|
rs2142969322
|
|
|
NM_000018.4(ACADVL):c.414G>A (p.Glu138=)
|
rs767727881
|
|
|
NM_000018.4(ACADVL):c.417G>A (p.Leu139=)
|
|
|
|
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg)
|
rs2142969408
|
|
|
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)
|
rs2071185757
|
|
|
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)
|
rs2071185652
|
|
|
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)
|
rs794727773
|
|
|
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs)
|
rs758144859
|
|
|
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
|
|
|
|
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro)
|
rs1555527925
|
|
|
NM_000018.4(ACADVL):c.432G>A (p.Leu144=)
|
rs778968978
|
|
|
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)
|
rs786204738
|
|
|
NM_000018.4(ACADVL):c.434A>C (p.Gln145Pro)
|
|
|
|
NM_000018.4(ACADVL):c.435A>G (p.Gln145=)
|
|
|
|
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)
|
rs398123089
|
|
|
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)
|
rs2142969655
|
|
|
NM_000018.4(ACADVL):c.438G>A (p.Val146=)
|
|
|
|
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser)
|
rs1032857886
|
|
|
NM_000018.4(ACADVL):c.442A>T (p.Ser148Cys)
|
rs892944229
|
|
|
NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr)
|
|
|
|
NM_000018.4(ACADVL):c.444T>C (p.Ser148=)
|
rs2142969724
|
|
|
NM_000018.4(ACADVL):c.447G>A (p.Glu149=)
|
rs2142969733
|
|
|
NM_000018.4(ACADVL):c.450G>A (p.Leu150=)
|
|
|
|
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)
|
rs794727772
|
|
|
NM_000018.4(ACADVL):c.459G>A (p.Val153=)
|
rs2142969815
|
|
|
NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp)
|
|
|
|
NM_000018.4(ACADVL):c.465T>C (p.Leu155=)
|
|
|
|
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs)
|
rs2142969858
|
|
|
NM_000018.4(ACADVL):c.471C>T (p.Asn157=)
|
|
|
|
NM_000018.4(ACADVL):c.475C>G (p.Gln159Glu)
|
rs779650201
|
|
|
NM_000018.4(ACADVL):c.477+12C>T
|
|
|
|
NM_000018.4(ACADVL):c.477+15T>G
|
|
|
|
NM_000018.4(ACADVL):c.477+17G>A
|
rs375076326
|
|
|
NM_000018.4(ACADVL):c.477+17G>T
|
|
|
|
NM_000018.4(ACADVL):c.477+1G>A
|
|
|
|
NM_000018.4(ACADVL):c.477+1G>C
|
rs2142969951
|
|
|
NM_000018.4(ACADVL):c.477+20A>G
|
|
|
|
NM_000018.4(ACADVL):c.477+2T>G
|
|
|
|
NM_000018.4(ACADVL):c.477+7G>A
|
rs1279805508
|
|
|
NM_000018.4(ACADVL):c.477+7G>T
|
rs1279805508
|
|
|
NM_000018.4(ACADVL):c.478-11T>C
|
|
|
|
NM_000018.4(ACADVL):c.478-13G>A
|
|
|
|
NM_000018.4(ACADVL):c.478-13G>C
|
|
|
|
NM_000018.4(ACADVL):c.478-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.478-20G>C
|
rs746194631
|
|
|
NM_000018.4(ACADVL):c.478-4C>T
|
|
|
|
NM_000018.4(ACADVL):c.478-6C>T
|
rs2142973845
|
|
|
NM_000018.4(ACADVL):c.478-6del
|
rs2071224181
|
|
|
NM_000018.4(ACADVL):c.478-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.478-8C>T
|
|
|
|
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)
|
rs371910495
|
|
|
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)
|
rs375284481
|
|
|
NM_000018.4(ACADVL):c.481G>T (p.Ala161Ser)
|
|
|
|
NM_000018.4(ACADVL):c.482C>A (p.Ala161Asp)
|
|
|
|
NM_000018.4(ACADVL):c.483_484del (p.Arg162fs)
|
|
|
|
NM_000018.4(ACADVL):c.488dup (p.Leu163fs)
|
rs2142974010
|
|
|
NM_000018.4(ACADVL):c.490G>A (p.Val164Met)
|
|
|
|
NM_000018.4(ACADVL):c.490G>T (p.Val164Leu)
|
|
|
|
NM_000018.4(ACADVL):c.491T>A (p.Val164Glu)
|
|
|
|
NM_000018.4(ACADVL):c.491T>C (p.Val164Ala)
|
rs2071225938
|
|
|
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)
|
rs2071225938
|
|
|
NM_000018.4(ACADVL):c.492G>A (p.Val164=)
|
|
|
|
NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)
|
rs370169077
|
|
|
NM_000018.4(ACADVL):c.498C>A (p.Ile166=)
|
rs370565071
|
|
|
NM_000018.4(ACADVL):c.498C>T (p.Ile166=)
|
rs370565071
|
|
|
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
|
|
|
|
NM_000018.4(ACADVL):c.501G>A (p.Val167=)
|
rs2142974194
|
|
|
NM_000018.4(ACADVL):c.501G>C (p.Val167=)
|
rs2142974194
|
|
|
NM_000018.4(ACADVL):c.503G>C (p.Gly168Ala)
|
|
|
|
NM_000018.4(ACADVL):c.504C>T (p.Gly168=)
|
|
|
|
NM_000018.4(ACADVL):c.506T>C (p.Met169Thr)
|
rs1382262076
|
|
|
NM_000018.4(ACADVL):c.506T>G (p.Met169Arg)
|
rs1382262076
|
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
|
NM_000018.4(ACADVL):c.509A>G (p.His170Arg)
|
|
|
|
NM_000018.4(ACADVL):c.510T>C (p.His170=)
|
|
|
|
NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)
|
|
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
|
NM_000018.4(ACADVL):c.517G>C (p.Gly173Arg)
|
rs2071227774
|
|
|
NM_000018.4(ACADVL):c.51C>G (p.Leu17=)
|
|
|
|
NM_000018.4(ACADVL):c.526A>C (p.Ile176Leu)
|
rs1300720825
|
|
|
NM_000018.4(ACADVL):c.531C>G (p.Thr177=)
|
rs2071228805
|
|
|
NM_000018.4(ACADVL):c.532del (p.Leu178fs)
|
|
|
|
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)
|
rs1131691808
|
|
|
NM_000018.4(ACADVL):c.535G>A (p.Gly179Arg)
|
rs796051909
|
|
|
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)
|
rs796051909
|
|
|
NM_000018.4(ACADVL):c.537G>A (p.Gly179=)
|
rs1597525140
|
|
|
NM_000018.4(ACADVL):c.542A>G (p.His181Arg)
|
rs1425862331
|
|
|
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_000018.4(ACADVL):c.545dup (p.Ser183fs)
|
|
|
|
NM_000018.4(ACADVL):c.552del (p.Ile184fs)
|
rs1597525249
|
|
|
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)
|
|
|
|
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser)
|
rs2071231356
|
|
|
NM_000018.4(ACADVL):c.564C>G (p.Gly188=)
|
|
|
|
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs)
|
rs1258134795
|
|
|
NM_000018.4(ACADVL):c.567C>T (p.Ile189=)
|
rs2142974641
|
|
|
NM_000018.4(ACADVL):c.56G>T (p.Gly19Val)
|
|
|
|
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp)
|
rs1220348903
|
|
|
NM_000018.4(ACADVL):c.579C>T (p.Gly193=)
|
|
|
|
NM_000018.4(ACADVL):c.57C>G (p.Gly19=)
|
|
|
|
NM_000018.4(ACADVL):c.582A>C (p.Thr194=)
|
rs113891941
|
|
|
NM_000018.4(ACADVL):c.582A>G (p.Thr194=)
|
rs113891941
|
|
|
NM_000018.4(ACADVL):c.586G>C (p.Ala196Pro)
|
|
|
|
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
|
|
|
|
NM_000018.4(ACADVL):c.591G>C (p.Gln197His)
|
rs2071233301
|
|
|
NM_000018.4(ACADVL):c.592A>G (p.Lys198Glu)
|
rs2071233392
|
|
|
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)
|
|
|
|
NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu)
|
|
|
|
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)
|
rs2071233789
|
|
|
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)
|
rs1597525536
|
|
|
NM_000018.4(ACADVL):c.603C>T (p.Tyr201=)
|
|
|
|
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
|
|
|
|
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)
|
|
|
|
NM_000018.4(ACADVL):c.608C>T (p.Pro203Leu)
|
|
|
|
NM_000018.4(ACADVL):c.609C>A (p.Pro203=)
|
rs2142975004
|
|
|
NM_000018.4(ACADVL):c.609C>T (p.Pro203=)
|
rs2142975004
|
|
|
NM_000018.4(ACADVL):c.609del (p.Lys204fs)
|
|
|
|
NM_000018.4(ACADVL):c.612G>A (p.Lys204=)
|
rs149836890
|
|
|
NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn)
|
|
|
|
NM_000018.4(ACADVL):c.613C>T (p.Leu205=)
|
|
|
|
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)
|
rs768975918
|
|
|
NM_000018.4(ACADVL):c.62+10del
|
rs1251002707
|
|
|
NM_000018.4(ACADVL):c.62+11G>A
|
rs754789048
|
|
|
NM_000018.4(ACADVL):c.62+12_62+21del
|
rs2142959968
|
|
|
NM_000018.4(ACADVL):c.62+13C>T
|
|
|
|
NM_000018.4(ACADVL):c.62+16G>A
|
|
|
|
NM_000018.4(ACADVL):c.62+1G>A
|
rs2071111529
|
|
|
NM_000018.4(ACADVL):c.62+1G>T
|
|
|
|
NM_000018.4(ACADVL):c.62+21_62+28del
|
|
|
|
NM_000018.4(ACADVL):c.62+2T>C
|
|
|
|
NM_000018.4(ACADVL):c.62+4TG[2]
|
|
|
|
NM_000018.4(ACADVL):c.62+4TG[3]
|
rs777656865
|
|
|
NM_000018.4(ACADVL):c.621_622+9del
|
|
|
|
NM_000018.4(ACADVL):c.622+13T>C
|
|
|
|
NM_000018.4(ACADVL):c.622+14A>G
|
rs2071235916
|
|
|
NM_000018.4(ACADVL):c.622+14del
|
|
|
|
NM_000018.4(ACADVL):c.622+15G>A
|
|
|
|
NM_000018.4(ACADVL):c.622+19_622+20del
|
|
|
|
NM_000018.4(ACADVL):c.622+19del
|
|
|
|
NM_000018.4(ACADVL):c.622+20G>C
|
|
|
|
NM_000018.4(ACADVL):c.623-11C>T
|
|
|
|
NM_000018.4(ACADVL):c.623-14T>C
|
rs2142976404
|
|
|
NM_000018.4(ACADVL):c.623-19_623-3del
|
|
|
|
NM_000018.4(ACADVL):c.623-1G>A
|
rs1597526782
|
|
|
NM_000018.4(ACADVL):c.623-20A>G
|
|
|
|
NM_000018.4(ACADVL):c.623-21A>G
|
|
|
|
NM_000018.4(ACADVL):c.623-2_623-1del
|
rs1555528265
|
|
|
NM_000018.4(ACADVL):c.623-4A>G
|
rs977348928
|
|
|
NM_000018.4(ACADVL):c.623-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.624G>A (p.Gly208=)
|
rs2142976497
|
|
|
NM_000018.4(ACADVL):c.625G>C (p.Glu209Gln)
|
rs772055899
|
|
|
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)
|
rs2142976531
|
|
|
NM_000018.4(ACADVL):c.63-10C>T
|
rs2142960638
|
|
|
NM_000018.4(ACADVL):c.63-12del
|
|
|
|
NM_000018.4(ACADVL):c.63-16C>A
|
|
|
|
NM_000018.4(ACADVL):c.63-16C>G
|
|
|
|
NM_000018.4(ACADVL):c.63-16C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-17A>T
|
rs1597516059
|
|
|
NM_000018.4(ACADVL):c.63-4A>G
|
rs2142960681
|
|
|
NM_000018.4(ACADVL):c.63-5C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-7C>T
|
|
|
|
NM_000018.4(ACADVL):c.63-8C>T
|
rs2142960652
|
|
|
NM_000018.4(ACADVL):c.632T>C (p.Val211Ala)
|
|
|
|
NM_000018.4(ACADVL):c.632_633del (p.Val211fs)
|
rs1489679976
|
|
|
NM_000018.4(ACADVL):c.633G>A (p.Val211=)
|
|
|
|
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)
|
rs2142976575
|
|
|
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)
|
rs140629318
|
|
|
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)
|
rs2071252145
|
|
|
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val)
|
rs1192969297
|
|
|
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs)
|
rs2142976616
|
|
|
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs)
|
rs1186576451
|
|
|
NM_000018.4(ACADVL):c.644G>A (p.Cys215Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser)
|
|
|
|
NM_000018.4(ACADVL):c.644G>T (p.Cys215Phe)
|
|
|
|
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer)
|
rs1057516714
|
|
|
NM_000018.4(ACADVL):c.645T>C (p.Cys215=)
|
|
|
|
NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro)
|
|
|
|
NM_000018.4(ACADVL):c.651C>A (p.Thr217=)
|
|
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
|
NM_000018.4(ACADVL):c.655C>T (p.Pro219Ser)
|
|
|
|
NM_000018.4(ACADVL):c.656C>A (p.Pro219His)
|
|
|
|
NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)
|
|
|
|
NM_000018.4(ACADVL):c.659_672del (p.Ser220fs)
|
|
|
|
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)
|
rs727503788
|
|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
|
NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu)
|
|
|
|
NM_000018.4(ACADVL):c.660A>C (p.Ser220=)
|
rs2142976731
|
|
|
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)
|
rs398123091
|
|
|
NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)
|
|
|
|
NM_000018.4(ACADVL):c.666G>A (p.Gly222=)
|
rs755458311
|
|
|
NM_000018.4(ACADVL):c.669A>G (p.Ser223=)
|
|
|
|
NM_000018.4(ACADVL):c.675A>G (p.Ala225=)
|
rs1367195566
|
|
|
NM_000018.4(ACADVL):c.675A>T (p.Ala225=)
|
|
|
|
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.678C>T (p.Ala226=)
|
rs372114185
|
|
|
NM_000018.4(ACADVL):c.681C>T (p.Ser227=)
|
|
|
|
NM_000018.4(ACADVL):c.682A>G (p.Ile228Val)
|
rs2071254536
|
|
|
NM_000018.4(ACADVL):c.682A>T (p.Ile228Phe)
|
rs2071254536
|
|
|
NM_000018.4(ACADVL):c.685C>G (p.Arg229Gly)
|
rs786204536
|
|
|
NM_000018.4(ACADVL):c.686_726del (p.Arg229fs)
|
|
|
|
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)
|
rs2071255080
|
|
|
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)
|
rs1241935771
|
|
|
NM_000018.4(ACADVL):c.68G>T (p.Arg23Leu)
|
rs34153370
|
|
|
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)
|
rs77763289
|
|
|
NM_000018.4(ACADVL):c.693T>C (p.Ser231=)
|
rs77763289
|
|
|
NM_000018.4(ACADVL):c.696T>C (p.Ala232=)
|
|
|
|
NM_000018.4(ACADVL):c.697G>A (p.Val233Met)
|
|
|
|
NM_000018.4(ACADVL):c.699G>A (p.Val233=)
|
rs1244500033
|
|
|
NM_000018.4(ACADVL):c.69G>A (p.Arg23=)
|
|
|
|
NM_000018.4(ACADVL):c.702C>G (p.Pro234=)
|
rs2142976946
|
|
|
NM_000018.4(ACADVL):c.708C>T (p.Pro236=)
|
rs2142976976
|
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
|
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)
|
|
|
|
NM_000018.4(ACADVL):c.711T>C (p.Cys237=)
|
|
|
|
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs)
|
rs2071256607
|
|
|
NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)
|
|
|
|
NM_000018.4(ACADVL):c.720C>T (p.Tyr240=)
|
|
|
|
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)
|
rs575789958
|
|
|
NM_000018.4(ACADVL):c.726C>T (p.Thr242=)
|
rs972997485
|
|
|
NM_000018.4(ACADVL):c.732T>C (p.Asn244=)
|
rs1567564195
|
|
|
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
|
|
|
|
NM_000018.4(ACADVL):c.734G>A (p.Gly245Glu)
|
rs762631117
|
|
|
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly)
|
rs1555528320
|
|
|
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)
|
rs387906253
|
|
|
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)
|
|
|
|
NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)
|
|
|
|
NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg)
|
rs2142977168
|
|
|
NM_000018.4(ACADVL):c.741G>A (p.Lys247=)
|
|
|
|
NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)
|
|
|
|
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)
|
rs2071258420
|
|
|
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)
|
rs141167669
|
|
|
NM_000018.4(ACADVL):c.748A>G (p.Ile250Val)
|
|
|
|
NM_000018.4(ACADVL):c.752+10C>T
|
rs200176128
|
|
|
NM_000018.4(ACADVL):c.752+12C>G
|
|
|
|
NM_000018.4(ACADVL):c.752+14C>T
|
|
|
|
NM_000018.4(ACADVL):c.752+18T>A
|
rs928947852
|
|
|
NM_000018.4(ACADVL):c.752+20T>A
|
|
|
|
NM_000018.4(ACADVL):c.752+6C>G
|
|
|
|
NM_000018.4(ACADVL):c.752+6C>T
|
|
|
|
NM_000018.4(ACADVL):c.752+9C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-13C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-15C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-1G>A
|
|
|
|
NM_000018.4(ACADVL):c.753-27C>T
|
rs374911841
|
|
|
NM_000018.4(ACADVL):c.753-5del
|
rs2071263119
|
|
|
NM_000018.4(ACADVL):c.753-6C>T
|
|
|
|
NM_000018.4(ACADVL):c.753-8T>C
|
|
|
|
NM_000018.4(ACADVL):c.753-9C>A
|
|
|
|
NM_000018.4(ACADVL):c.753-9C>G
|
rs1262931604
|
|
|
NM_000018.4(ACADVL):c.753-9C>T
|
rs1262931604
|
|
|
NM_000018.4(ACADVL):c.757G>A (p.Gly253Arg)
|
rs1555528345
|
|
|
NM_000018.4(ACADVL):c.75G>T (p.Thr25=)
|
rs2142960838
|
|
|
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)
|
|
|
|
NM_000018.4(ACADVL):c.765A>G (p.Leu255=)
|
|
|
|
NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn)
|
|
|
|
NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly)
|
|
|
|
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)
|
rs1197133430
|
|
|
NM_000018.4(ACADVL):c.776_777insA (p.Phe259fs)
|
|
|
|
NM_000018.4(ACADVL):c.777C>T (p.Phe259=)
|
|
|
|
NM_000018.4(ACADVL):c.780G>C (p.Thr260=)
|
rs140871321
|
|
|
NM_000018.4(ACADVL):c.780G>T (p.Thr260=)
|
rs140871321
|
|
|
NM_000018.4(ACADVL):c.783C>T (p.Val261=)
|
rs1309345559
|
|
|
NM_000018.4(ACADVL):c.785T>C (p.Phe262Ser)
|
rs1597528061
|
|
|
NM_000018.4(ACADVL):c.786T>G (p.Phe262Leu)
|
rs777747704
|
|
|
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs)
|
rs2071266269
|
|
|
NM_000018.4(ACADVL):c.79C>T (p.Leu27Phe)
|
rs1597516267
|
|
|
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)
|
|
|
|
NM_000018.4(ACADVL):c.803C>T (p.Thr268Ile)
|
|
|
|
NM_000018.4(ACADVL):c.809C>G (p.Pro270Arg)
|
|
|
|
NM_000018.4(ACADVL):c.809del (p.Pro270fs)
|
rs1567564499
|
|
|
NM_000018.4(ACADVL):c.811G>A (p.Ala271Thr)
|
rs2142977919
|
|
|
NM_000018.4(ACADVL):c.816A>G (p.Thr272=)
|
|
|
|
NM_000018.4(ACADVL):c.81C>G (p.Leu27=)
|
|
|
|
NM_000018.4(ACADVL):c.821C>T (p.Ala274Val)
|
|
|
|
NM_000018.4(ACADVL):c.826A>G (p.Lys276Glu)
|
|
|
|
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del)
|
rs1555528367
|
|
|
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)
|
|
|
|
NM_000018.4(ACADVL):c.829_831del (p.Glu277del)
|
rs796051913
|
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
|
NM_000018.4(ACADVL):c.833A>T (p.Lys278Met)
|
|
|
|
NM_000018.4(ACADVL):c.834G>A (p.Lys278=)
|
|
|
|
NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)
|
|
|
|
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)
|
rs2142978093
|
|
|
NM_000018.4(ACADVL):c.841G>C (p.Ala281Pro)
|
rs2142978096
|
|
|
NM_000018.4(ACADVL):c.843T>A (p.Ala281=)
|
|
|
|
NM_000018.4(ACADVL):c.843T>C (p.Ala281=)
|
|
|
|
NM_000018.4(ACADVL):c.845T>C (p.Phe282Ser)
|
rs2071268683
|
|
|
NM_000018.4(ACADVL):c.849G>A (p.Val283=)
|
|
|
|
NM_000018.4(ACADVL):c.84G>A (p.Leu28=)
|
|
|
|
NM_000018.4(ACADVL):c.852G>A (p.Val284=)
|
|
|
|
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)
|
|
|
|
NM_000018.4(ACADVL):c.855G>A (p.Glu285=)
|
rs201509063
|
|
|
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)
|
rs201509063
|
|
|
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs)
|
rs2071269046
|
|
|
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)
|
|
|
|
NM_000018.4(ACADVL):c.861C>G (p.Gly287=)
|
rs2142978212
|
|
|
NM_000018.4(ACADVL):c.861C>T (p.Gly287=)
|
rs2142978212
|
|
|
NM_000018.4(ACADVL):c.867G>A (p.Gly289=)
|
rs745557512
|
|
|
NM_000018.4(ACADVL):c.869del (p.Gly290fs)
|
rs886044671
|
|
|
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)
|
rs886044671
|
|
|
NM_000018.4(ACADVL):c.86G>A (p.Gly29Glu)
|
rs1247979958
|
|
|
NM_000018.4(ACADVL):c.876C>G (p.Thr292=)
|
|
|
|
NM_000018.4(ACADVL):c.877del (p.His293fs)
|
|
|
|
NM_000018.4(ACADVL):c.878+10T>C
|
|
|
|
NM_000018.4(ACADVL):c.878+11T>G
|
|
|
|
NM_000018.4(ACADVL):c.878+18G>A
|
|
|
|
NM_000018.4(ACADVL):c.878+18G>T
|
|
|
|
NM_000018.4(ACADVL):c.878+22del
|
|
|
|
NM_000018.4(ACADVL):c.878+34G>A
|
|
|
|
NM_000018.4(ACADVL):c.879-10C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-13T>A
|
|
|
|
NM_000018.4(ACADVL):c.879-13T>C
|
|
|
|
NM_000018.4(ACADVL):c.879-14C>G
|
|
|
|
NM_000018.4(ACADVL):c.879-15A>G
|
|
|
|
NM_000018.4(ACADVL):c.879-17A>G
|
|
|
|
NM_000018.4(ACADVL):c.879-18C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-19C>T
|
rs754490495
|
|
|
NM_000018.4(ACADVL):c.879-1G>A
|
rs2071286572
|
|
|
NM_000018.4(ACADVL):c.879-20C>T
|
|
|
|
NM_000018.4(ACADVL):c.879-2A>G
|
|
|
|
NM_000018.4(ACADVL):c.879-7G>C
|
rs2142979711
|
|
|
NM_000018.4(ACADVL):c.879-88_896del
|
rs2142979402
|
|
|
NM_000018.4(ACADVL):c.882G>C (p.Gly294=)
|
|
|
|
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)
|
rs1327386820
|
|
|
NM_000018.4(ACADVL):c.883C>T (p.Pro295Ser)
|
|
|
|
NM_000018.4(ACADVL):c.885C>A (p.Pro295=)
|
rs1567565243
|
|
|
NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser)
|
|
|
|
NM_000018.4(ACADVL):c.887C>T (p.Pro296Leu)
|
|
|
|
NM_000018.4(ACADVL):c.889_891del (p.Glu297del)
|
rs796051914
|
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
|
NM_000018.4(ACADVL):c.891G>A (p.Glu297=)
|
|
|
|
NM_000018.4(ACADVL):c.891G>C (p.Glu297Asp)
|
rs2071287588
|
|
|
NM_000018.4(ACADVL):c.895A>G (p.Lys299Glu)
|
rs2142979869
|
|
|
NM_000018.4(ACADVL):c.896A>G (p.Lys299Arg)
|
rs771247610
|
|
|
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)
|
rs1026112888
|
|
|
NM_000018.4(ACADVL):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)
|
|
|
|
NM_000018.4(ACADVL):c.904del (p.Ile302fs)
|
|
|
|
NM_000018.4(ACADVL):c.906C>T (p.Ile302=)
|
|
|
|
NM_000018.4(ACADVL):c.907_908del (p.Lys303fs)
|
|
|
|
NM_000018.4(ACADVL):c.909G>A (p.Lys303=)
|
rs2142979945
|
|
|
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val)
|
rs1473375424
|
|
|
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)
|
rs2071288883
|
|
|
NM_000018.4(ACADVL):c.921A>C (p.Thr307=)
|
|
|
|
NM_000018.4(ACADVL):c.922G>A (p.Ala308Thr)
|
|
|
|
NM_000018.4(ACADVL):c.924A>G (p.Ala308=)
|
|
|
|
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs)
|
rs2071289046
|
|
|
NM_000018.4(ACADVL):c.927G>A (p.Glu309=)
|
|
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
|
NM_000018.4(ACADVL):c.937G>C (p.Asp313His)
|
|
|
|
NM_000018.4(ACADVL):c.938_940del (p.Asp313del)
|
rs2142980046
|
|
|
NM_000018.4(ACADVL):c.942A>C (p.Gly314=)
|
rs2142980069
|
|
|
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
|
|
|
|
NM_000018.4(ACADVL):c.948G>A (p.Arg316=)
|
|
|
|
NM_000018.4(ACADVL):c.949G>A (p.Val317Met)
|
rs1567565417
|
|
|
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)
|
rs201676770
|
|
|
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)
|
rs149467828
|
|
|
NM_000018.4(ACADVL):c.956C>T (p.Ser319Leu)
|
rs149467828
|
|
|
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)
|
|
|
|
NM_000018.4(ACADVL):c.963C>A (p.Asn321Lys)
|
rs568118142
|
|
|
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)
|
|
|
|
NM_000018.4(ACADVL):c.96G>A (p.Arg32=)
|
rs1243371051
|
|
|
NM_000018.4(ACADVL):c.972T>C (p.Gly324=)
|
rs1555528483
|
|
|
NM_000018.4(ACADVL):c.975G>C (p.Glu325Asp)
|
rs1271862153
|
|
|
NM_000018.4(ACADVL):c.976G>T (p.Val326Phe)
|
|
|
|
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)
|
rs1205407134
|
|
|
NM_000018.4(ACADVL):c.977T>C (p.Val326Ala)
|
rs1205407134
|
|
|
NM_000018.4(ACADVL):c.981G>C (p.Gly327=)
|
rs527421619
|
|
|
NM_000018.4(ACADVL):c.988T>C (p.Phe330Leu)
|
rs947624074
|
|
|
NM_000018.4(ACADVL):c.990C>G (p.Phe330Leu)
|
rs2071292084
|
|
|
NM_000018.4(ACADVL):c.996del (p.Ala333fs)
|
rs1057516843
|
|
|
NM_000018.4(ACADVL):c.996dup (p.Ala333fs)
|
rs1057516843
|
|
|
NM_000018.4(ACADVL):c.997G>A (p.Ala333Thr)
|
rs2071292782
|
|
|
NM_000018.4(ACADVL):c.99C>T (p.Pro33=)
|
|
|
|
NM_000018.4(ACADVL):c.9G>A (p.Ala3=)
|
|
|
|
NM_000018.4(ACADVL):c.9G>C (p.Ala3=)
|
|
|
|
NM_000019.4(ACAT1):c.1005+11A>C
|
|
|
|
NM_000019.4(ACAT1):c.1005+11A>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+19G>A
|
rs1239413602
|
|
|
NM_000019.4(ACAT1):c.1005+19G>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+1G>A
|
rs2134780623
|
|
|
NM_000019.4(ACAT1):c.1005+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.1005+20dup
|
|
|
|
NM_000019.4(ACAT1):c.1006-15T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-16T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-17C>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-18T>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-18T>C
|
|
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
|
NM_000019.4(ACAT1):c.1006-21C>A
|
|
|
|
NM_000019.4(ACAT1):c.1006-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.1006-7A>T
|
|
|
|
NM_000019.4(ACAT1):c.1006-8A>C
|
|
|
|
NM_000019.4(ACAT1):c.1018G>A (p.Val340Met)
|
|
|
|
NM_000019.4(ACAT1):c.1020G>A (p.Val340=)
|
rs2077705283
|
|
|
NM_000019.4(ACAT1):c.1023A>G (p.Gly341=)
|
|
|
|
NM_000019.4(ACAT1):c.1023A>T (p.Gly341=)
|
|
|
|
NM_000019.4(ACAT1):c.1024T>C (p.Leu342=)
|
|
|
|
NM_000019.4(ACAT1):c.1032AGA[1] (p.Glu345del)
|
rs387906282
|
|
|
NM_000019.4(ACAT1):c.1032dup (p.Glu345fs)
|
rs1565297723
|
|
|
NM_000019.4(ACAT1):c.1033_1034del (p.Glu345fs)
|
rs781496140
|
|
|
NM_000019.4(ACAT1):c.1040T>C (p.Ile347Thr)
|
rs1338023969
|
|
|
NM_000019.4(ACAT1):c.1044A>C (p.Ala348=)
|
rs2134791187
|
|
|
NM_000019.4(ACAT1):c.1049G>A (p.Trp350Ter)
|
rs1367121673
|
|
|
NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)
|
|
|
|
NM_000019.4(ACAT1):c.1053A>G (p.Glu351=)
|
|
|
|
NM_000019.4(ACAT1):c.1059T>C (p.Asn353=)
|
rs1591374629
|
|
|
NM_000019.4(ACAT1):c.1077T>G (p.Val359=)
|
|
|
|
NM_000019.4(ACAT1):c.1078G>A (p.Val360Ile)
|
|
|
|
NM_000019.4(ACAT1):c.1081C>T (p.Leu361=)
|
|
|
|
NM_000019.4(ACAT1):c.1089C>T (p.Asn363=)
|
|
|
|
NM_000019.4(ACAT1):c.1096A>G (p.Met366Val)
|
|
|
|
NM_000019.4(ACAT1):c.10C>T (p.Leu4=)
|
|
|
|
NM_000019.4(ACAT1):c.1100T>A (p.Leu367Ter)
|
rs2134791556
|
|
|
NM_000019.4(ACAT1):c.1105A>G (p.Ile369Val)
|
rs1591374695
|
|
|
NM_000019.4(ACAT1):c.1114C>T (p.Gln372Ter)
|
rs2134791667
|
|
|
NM_000019.4(ACAT1):c.1116A>G (p.Gln372=)
|
|
|
|
NM_000019.4(ACAT1):c.1117A>T (p.Lys373Ter)
|
rs2134791703
|
|
|
NM_000019.4(ACAT1):c.1128C>A (p.Ile376=)
|
|
|
|
NM_000019.4(ACAT1):c.1128C>T (p.Ile376=)
|
rs928429664
|
|
|
NM_000019.4(ACAT1):c.1128_1131dup (p.Gly378fs)
|
rs2134791752
|
|
|
NM_000019.4(ACAT1):c.1131T>C (p.Asn377=)
|
rs751682437
|
|
|
NM_000019.4(ACAT1):c.1134A>G (p.Gly378=)
|
rs2134791835
|
|
|
NM_000019.4(ACAT1):c.1159A>G (p.Ile387Val)
|
|
|
|
NM_000019.4(ACAT1):c.1163+11A>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+14A>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+15_1163+17del
|
rs748465398
|
|
|
NM_000019.4(ACAT1):c.1163+16_1163+18del
|
|
|
|
NM_000019.4(ACAT1):c.1163+18C>T
|
|
|
|
NM_000019.4(ACAT1):c.1163+19T>G
|
|
|
|
NM_000019.4(ACAT1):c.1163+20A>C
|
|
|
|
NM_000019.4(ACAT1):c.1163+20A>G
|
|
|
|
NM_000019.4(ACAT1):c.1164-11C>T
|
|
|
|
NM_000019.4(ACAT1):c.1164-17T>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-4T>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.1164-7A>C
|
|
|
|
NM_000019.4(ACAT1):c.1164-8_1164-4dup
|
|
|
|
NM_000019.4(ACAT1):c.1167G>T (p.Met389Ile)
|
rs377295639
|
|
|
NM_000019.4(ACAT1):c.1173dup (p.Ala392fs)
|
rs1565298653
|
|
|
NM_000019.4(ACAT1):c.1176C>G (p.Ala392=)
|
|
|
|
NM_000019.4(ACAT1):c.1179G>A (p.Arg393=)
|
|
|
|
NM_000019.4(ACAT1):c.1181_1211dup (p.Gln404fs)
|
rs2077737059
|
|
|
NM_000019.4(ACAT1):c.1183G>C (p.Val395Leu)
|
|
|
|
NM_000019.4(ACAT1):c.1189C>G (p.His397Asp)
|
rs746332363
|
|
|
NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)
|
rs2134797745
|
|
|
NM_000019.4(ACAT1):c.1192T>C (p.Leu398=)
|
|
|
|
NM_000019.4(ACAT1):c.1197T>C (p.Thr399=)
|
|
|
|
NM_000019.4(ACAT1):c.120+17G>A
|
|
|
|
NM_000019.4(ACAT1):c.120+1G>A
|
|
|
|
NM_000019.4(ACAT1):c.120+1G>T
|
rs779908220
|
|
|
NM_000019.4(ACAT1):c.120+20C>G
|
|
|
|
NM_000019.4(ACAT1):c.120+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.1203C>T (p.Ala401=)
|
|
|
|
NM_000019.4(ACAT1):c.1204T>C (p.Leu402=)
|
|
|
|
NM_000019.4(ACAT1):c.1206G>A (p.Leu402=)
|
|
|
|
NM_000019.4(ACAT1):c.1207A>T (p.Lys403Ter)
|
|
|
|
NM_000019.4(ACAT1):c.121-12G>A
|
|
|
|
NM_000019.4(ACAT1):c.121-19C>T
|
|
|
|
NM_000019.4(ACAT1):c.121-2A>G
|
rs2135334384
|
|
|
NM_000019.4(ACAT1):c.121-3C>G
|
rs1591361919
|
|
|
NM_000019.4(ACAT1):c.121-8C>T
|
|
|
|
NM_000019.4(ACAT1):c.1210C>T (p.Gln404Ter)
|
|
|
|
NM_000019.4(ACAT1):c.1215A>C (p.Gly405=)
|
|
|
|
NM_000019.4(ACAT1):c.1219T>C (p.Tyr407His)
|
|
|
|
NM_000019.4(ACAT1):c.1224T>C (p.Gly408=)
|
rs1218523313
|
|
|
NM_000019.4(ACAT1):c.1230C>T (p.Ala410=)
|
|
|
|
NM_000019.4(ACAT1):c.1233T>C (p.Ser411=)
|
rs2077740550
|
|
|
NM_000019.4(ACAT1):c.1239C>T (p.Cys413=)
|
rs2134798301
|
|
|
NM_000019.4(ACAT1):c.1240A>G (p.Asn414Asp)
|
rs2134798319
|
|
|
NM_000019.4(ACAT1):c.1245A>G (p.Gly415=)
|
|
|
|
NM_000019.4(ACAT1):c.1248A>G (p.Gly416=)
|
|
|
|
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp)
|
rs886042080
|
|
|
NM_000019.4(ACAT1):c.1253_1255dup (p.Gly418dup)
|
rs2077741217
|
|
|
NM_000019.4(ACAT1):c.1260T>C (p.Ser420=)
|
|
|
|
NM_000019.4(ACAT1):c.1269_1270dup (p.Ile424fs)
|
|
|
|
NM_000019.4(ACAT1):c.126G>A (p.Val42=)
|
|
|
|
NM_000019.4(ACAT1):c.126G>T (p.Val42=)
|
rs2135334412
|
|
|
NM_000019.4(ACAT1):c.1272T>A (p.Ile424=)
|
|
|
|
NM_000019.4(ACAT1):c.1278G>A (p.Lys426=)
|
|
|
|
NM_000019.4(ACAT1):c.1279C>T (p.Leu427=)
|
rs201500937
|
|
|
NM_000019.4(ACAT1):c.133G>C (p.Val45Leu)
|
|
|
|
NM_000019.4(ACAT1):c.134dup (p.Ser46fs)
|
rs1444451434
|
|
|
NM_000019.4(ACAT1):c.140C>T (p.Ala47Val)
|
rs545826042
|
|
|
NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)
|
|
|
|
NM_000019.4(ACAT1):c.15G>C (p.Ala5=)
|
rs886047594
|
|
|
NM_000019.4(ACAT1):c.15G>T (p.Ala5=)
|
|
|
|
NM_000019.4(ACAT1):c.163T>A (p.Phe55Ile)
|
|
|
|
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys)
|
rs1591361995
|
|
|
NM_000019.4(ACAT1):c.170del (p.Gly57fs)
|
|
|
|
NM_000019.4(ACAT1):c.174C>T (p.Ser58=)
|
rs147018814
|
|
|
NM_000019.4(ACAT1):c.177T>G (p.Leu59=)
|
rs2135334620
|
|
|
NM_000019.4(ACAT1):c.180C>G (p.Ser60=)
|
rs1246350270
|
|
|
NM_000019.4(ACAT1):c.189A>C (p.Pro63=)
|
|
|
|
NM_000019.4(ACAT1):c.18A>G (p.Ala6=)
|
|
|
|
NM_000019.4(ACAT1):c.192C>T (p.Ala64=)
|
rs2135334679
|
|
|
NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000019.4(ACAT1):c.200T>G (p.Leu67Arg)
|
|
|
|
NM_000019.4(ACAT1):c.209T>C (p.Ile70Thr)
|
|
|
|
NM_000019.4(ACAT1):c.213A>C (p.Ala71=)
|
|
|
|
NM_000019.4(ACAT1):c.217C>T (p.Gln73Ter)
|
|
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
|
NM_000019.4(ACAT1):c.21T>G (p.Leu7=)
|
|
|
|
NM_000019.4(ACAT1):c.229del (p.Glu77fs)
|
rs2077411287
|
|
|
NM_000019.4(ACAT1):c.233del (p.Lys78fs)
|
rs2135334849
|
|
|
NM_000019.4(ACAT1):c.234G>A (p.Lys78=)
|
|
|
|
NM_000019.4(ACAT1):c.238+11A>G
|
|
|
|
NM_000019.4(ACAT1):c.238+13T>C
|
|
|
|
NM_000019.4(ACAT1):c.238+20T>C
|
|
|
|
NM_000019.4(ACAT1):c.238+20T>G
|
|
|
|
NM_000019.4(ACAT1):c.238+2T>A
|
rs2135334862
|
|
|
NM_000019.4(ACAT1):c.238+8G>T
|
rs2135334879
|
|
|
NM_000019.4(ACAT1):c.239-10_239-8del
|
|
|
|
NM_000019.4(ACAT1):c.239-11_239-8del
|
|
|
|
NM_000019.4(ACAT1):c.239-13T>G
|
|
|
|
NM_000019.4(ACAT1):c.239-17_239-16insC
|
|
|
|
NM_000019.4(ACAT1):c.239-6dup
|
rs2077417137
|
|
|
NM_000019.4(ACAT1):c.239-8del
|
rs201199156
|
|
|
NM_000019.4(ACAT1):c.239-9_239-8del
|
rs201199156
|
|
|
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del)
|
rs866364527
|
|
|
NM_000019.4(ACAT1):c.24G>T (p.Leu8=)
|
|
|
|
NM_000019.4(ACAT1):c.252del (p.Glu85fs)
|
rs2135336077
|
|
|
NM_000019.4(ACAT1):c.256G>T (p.Val86Leu)
|
rs1235436246
|
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
|
NM_000019.4(ACAT1):c.264A>G (p.Glu88=)
|
rs1406647087
|
|
|
NM_000019.4(ACAT1):c.267A>C (p.Ala89=)
|
rs1380608828
|
|
|
NM_000019.4(ACAT1):c.272del (p.Met91fs)
|
|
|
|
NM_000019.4(ACAT1):c.274G>A (p.Gly92Ser)
|
rs1591362402
|
|
|
NM_000019.4(ACAT1):c.27C>T (p.Arg9=)
|
rs1437592865
|
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
|
NM_000019.4(ACAT1):c.291A>C (p.Gly97=)
|
rs746216662
|
|
|
NM_000019.4(ACAT1):c.291A>G (p.Gly97=)
|
|
|
|
NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)
|
rs120074142
|
|
|
NM_000019.4(ACAT1):c.301C>T (p.Gln101Ter)
|
|
|
|
NM_000019.4(ACAT1):c.303A>G (p.Gln101=)
|
|
|
|
NM_000019.4(ACAT1):c.312A>G (p.Thr104=)
|
rs2135336378
|
|
|
NM_000019.4(ACAT1):c.315G>A (p.Arg105=)
|
|
|
|
NM_000019.4(ACAT1):c.316C>T (p.Gln106Ter)
|
rs2135336400
|
|
|
NM_000019.4(ACAT1):c.318G>A (p.Gln106=)
|
|
|
|
NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)
|
|
|
|
NM_000019.4(ACAT1):c.321A>T (p.Ala107=)
|
|
|
|
NM_000019.4(ACAT1):c.326T>G (p.Leu109Trp)
|
|
|
|
NM_000019.4(ACAT1):c.330T>C (p.Gly110=)
|
rs2135336464
|
|
|
NM_000019.4(ACAT1):c.330dup (p.Ala111fs)
|
|
|
|
NM_000019.4(ACAT1):c.333A>G (p.Ala111=)
|
rs2135336477
|
|
|
NM_000019.4(ACAT1):c.334+16T>C
|
|
|
|
NM_000019.4(ACAT1):c.334+18_334+19del
|
|
|
|
NM_000019.4(ACAT1):c.334+19T>G
|
|
|
|
NM_000019.4(ACAT1):c.334+2T>A
|
|
|
|
NM_000019.4(ACAT1):c.334+8G>A
|
rs1336705723
|
|
|
NM_000019.4(ACAT1):c.335-12T>C
|
|
|
|
NM_000019.4(ACAT1):c.335-16C>T
|
|
|
|
NM_000019.4(ACAT1):c.335-19T>C
|
|
|
|
NM_000019.4(ACAT1):c.335-20G>A
|
|
|
|
NM_000019.4(ACAT1):c.335-20G>C
|
|
|
|
NM_000019.4(ACAT1):c.335-2A>G
|
|
|
|
NM_000019.4(ACAT1):c.335-3del
|
|
|
|
NM_000019.4(ACAT1):c.335-4T>G
|
|
|
|
NM_000019.4(ACAT1):c.33C>T (p.Gly11=)
|
|
|
|
NM_000019.4(ACAT1):c.340C>T (p.Pro114Ser)
|
|
|
|
NM_000019.4(ACAT1):c.355T>G (p.Cys119Gly)
|
|
|
|
NM_000019.4(ACAT1):c.360C>T (p.Thr120=)
|
rs2135341517
|
|
|
NM_000019.4(ACAT1):c.36C>G (p.Ala12=)
|
rs1333520451
|
|
|
NM_000019.4(ACAT1):c.36C>T (p.Ala12=)
|
rs1333520451
|
|
|
NM_000019.4(ACAT1):c.372dup (p.Val125fs)
|
|
|
|
NM_000019.4(ACAT1):c.375T>C (p.Val125=)
|
rs767382364
|
|
|
NM_000019.4(ACAT1):c.375_376del (p.Ala127fs)
|
|
|
|
NM_000019.4(ACAT1):c.378_379del (p.Ala127fs)
|
rs2135341631
|
|
|
NM_000019.4(ACAT1):c.381_396del (p.Ser128_Gly129insTer)
|
|
|
|
NM_000019.4(ACAT1):c.384A>C (p.Ser128=)
|
|
|
|
NM_000019.4(ACAT1):c.394G>C (p.Ala132Pro)
|
|
|
|
NM_000019.4(ACAT1):c.399C>T (p.Ile133=)
|
rs2135341722
|
|
|
NM_000019.4(ACAT1):c.39C>A (p.Arg13=)
|
|
|
|
NM_000019.4(ACAT1):c.405G>T (p.Met135Ile)
|
|
|
|
NM_000019.4(ACAT1):c.408C>A (p.Ala136=)
|
|
|
|
NM_000019.4(ACAT1):c.410_411insGGGCCTC (p.Gln138fs)
|
|
|
|
NM_000019.4(ACAT1):c.414_415del (p.Leu140fs)
|
rs1591363800
|
|
|
NM_000019.4(ACAT1):c.418C>T (p.Leu140Phe)
|
rs2077446791
|
|
|
NM_000019.4(ACAT1):c.42C>T (p.Ser14=)
|
rs1436280151
|
|
|
NM_000019.4(ACAT1):c.435+11C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+12C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+13G>A
|
|
|
|
NM_000019.4(ACAT1):c.435+19C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+1G>A
|
rs1591363834
|
|
|
NM_000019.4(ACAT1):c.435+20C>T
|
|
|
|
NM_000019.4(ACAT1):c.435+4A>G
|
rs1424341036
|
|
|
NM_000019.4(ACAT1):c.436-12G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-13T>C
|
|
|
|
NM_000019.4(ACAT1):c.436-14G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-15G>A
|
|
|
|
NM_000019.4(ACAT1):c.436-4G>A
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436-8C>T
|
rs2135355544
|
|
|
NM_000019.4(ACAT1):c.447G>A (p.Val149=)
|
|
|
|
NM_000019.4(ACAT1):c.455_475del (p.Gly152_Asn158del)
|
|
|
|
NM_000019.4(ACAT1):c.45C>T (p.Arg15=)
|
rs2135283693
|
|
|
NM_000019.4(ACAT1):c.474T>C (p.Asn158=)
|
|
|
|
NM_000019.4(ACAT1):c.475G>A (p.Val159Ile)
|
|
|
|
NM_000019.4(ACAT1):c.477T>C (p.Val159=)
|
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
|
NM_000019.4(ACAT1):c.483T>G (p.Tyr161Ter)
|
|
|
|
NM_000019.4(ACAT1):c.491_495del (p.Asn164fs)
|
rs2135356039
|
|
|
NM_000019.4(ACAT1):c.492C>T (p.Asn164=)
|
rs2135356062
|
|
|
NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_000019.4(ACAT1):c.507A>T (p.Pro169=)
|
rs201456540
|
|
|
NM_000019.4(ACAT1):c.510T>C (p.Tyr170=)
|
|
|
|
NM_000019.4(ACAT1):c.513T>C (p.Gly171=)
|
rs1388288534
|
|
|
NM_000019.4(ACAT1):c.51C>A (p.Pro17=)
|
|
|
|
NM_000019.4(ACAT1):c.51C>G (p.Pro17=)
|
rs765733417
|
|
|
NM_000019.4(ACAT1):c.52dup (p.Leu18fs)
|
rs1476273214
|
|
|
NM_000019.4(ACAT1):c.531T>C (p.Asp177=)
|
|
|
|
NM_000019.4(ACAT1):c.537T>C (p.Ile179=)
|
|
|
|
NM_000019.4(ACAT1):c.537del (p.Ile179fs)
|
rs1415293773
|
|
|
NM_000019.4(ACAT1):c.542_543del (p.Lys181fs)
|
|
|
|
NM_000019.4(ACAT1):c.549G>A (p.Gly183=)
|
|
|
|
NM_000019.4(ACAT1):c.550C>T (p.Leu184=)
|
rs2135356370
|
|
|
NM_000019.4(ACAT1):c.552_555del (p.Thr185fs)
|
|
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
|
NM_000019.4(ACAT1):c.578T>C (p.Met193Thr)
|
rs541517496
|
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
|
NM_000019.4(ACAT1):c.579+17G>T
|
|
|
|
NM_000019.4(ACAT1):c.579+2T>A
|
rs112950994
|
|
|
NM_000019.4(ACAT1):c.579+7G>A
|
|
|
|
NM_000019.4(ACAT1):c.57C>A (p.Leu19=)
|
rs540416798
|
|
|
NM_000019.4(ACAT1):c.57C>T (p.Leu19=)
|
rs540416798
|
|
|
NM_000019.4(ACAT1):c.580-14C>A
|
|
|
|
NM_000019.4(ACAT1):c.580-5dup
|
rs2134760866
|
|
|
NM_000019.4(ACAT1):c.580-7T>C
|
rs565210496
|
|
|
NM_000019.4(ACAT1):c.580-8T>C
|
|
|
|
NM_000019.4(ACAT1):c.580-93_626del
|
|
|
|
NM_000019.4(ACAT1):c.588T>C (p.Cys196=)
|
|
|
|
NM_000019.4(ACAT1):c.603A>G (p.Ala201=)
|
rs1591368730
|
|
|
NM_000019.4(ACAT1):c.609G>A (p.Lys203=)
|
|
|
|
NM_000019.4(ACAT1):c.615T>C (p.Asn205=)
|
|
|
|
NM_000019.4(ACAT1):c.619del (p.Ala207fs)
|
|
|
|
NM_000019.4(ACAT1):c.622C>A (p.Arg208=)
|
rs532190594
|
|
|
NM_000019.4(ACAT1):c.622C>G (p.Arg208Gly)
|
rs532190594
|
|
|
NM_000019.4(ACAT1):c.628G>T (p.Glu210Ter)
|
|
|
|
NM_000019.4(ACAT1):c.630A>G (p.Glu210=)
|
|
|
|
NM_000019.4(ACAT1):c.633G>A (p.Gln211=)
|
rs2134761170
|
|
|
NM_000019.4(ACAT1):c.642T>C (p.Tyr214=)
|
rs761282960
|
|
|
NM_000019.4(ACAT1):c.642T>G (p.Tyr214Ter)
|
rs761282960
|
|
|
NM_000019.4(ACAT1):c.649_652del (p.Asn217fs)
|
|
|
|
NM_000019.4(ACAT1):c.649_652dup (p.Ser218Ter)
|
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
|
NM_000019.4(ACAT1):c.653C>T (p.Ser218Phe)
|
rs879255505
|
|
|
NM_000019.4(ACAT1):c.655T>C (p.Tyr219His)
|
rs1437567292
|
|
|
NM_000019.4(ACAT1):c.655_656insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCTATTAATTCTT (p.Tyr219delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTrpSerArgSerProAspLeuMetIleHisProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
rs2134761257
|
|
|
NM_000019.4(ACAT1):c.657T>C (p.Tyr219=)
|
|
|
|
NM_000019.4(ACAT1):c.666T>C (p.Ser222=)
|
rs2134761387
|
|
|
NM_000019.4(ACAT1):c.670G>C (p.Ala224Pro)
|
rs2134761406
|
|
|
NM_000019.4(ACAT1):c.681A>G (p.Glu227=)
|
rs2134761453
|
|
|
NM_000019.4(ACAT1):c.684T>C (p.Ala228=)
|
rs2134761476
|
|
|
NM_000019.4(ACAT1):c.707T>C (p.Ile236Thr)
|
|
|
|
NM_000019.4(ACAT1):c.716_717del (p.Thr239fs)
|
|
|
|
NM_000019.4(ACAT1):c.72+10G>A
|
|
|
|
NM_000019.4(ACAT1):c.72+10G>T
|
rs1324987267
|
|
|
NM_000019.4(ACAT1):c.72+15T>A
|
|
|
|
NM_000019.4(ACAT1):c.72+17C>T
|
|
|
|
NM_000019.4(ACAT1):c.72+19C>T
|
|
|
|
NM_000019.4(ACAT1):c.72+6C>A
|
|
|
|
NM_000019.4(ACAT1):c.72+8G>C
|
|
|
|
NM_000019.4(ACAT1):c.721dup (p.Thr241fs)
|
|
|
|
NM_000019.4(ACAT1):c.73-10T>C
|
|
|
|
NM_000019.4(ACAT1):c.73-10T>G
|
|
|
|
NM_000019.4(ACAT1):c.73-13A>G
|
|
|
|
NM_000019.4(ACAT1):c.73-16_73-13del
|
rs764584922
|
|
|
NM_000019.4(ACAT1):c.73-17_73-12del
|
|
|
|
NM_000019.4(ACAT1):c.73-18T>C
|
|
|
|
NM_000019.4(ACAT1):c.73-1G>A
|
|
|
|
NM_000019.4(ACAT1):c.73-20_73-18del
|
rs761134266
|
|
|
NM_000019.4(ACAT1):c.73-9A>G
|
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
|
NM_000019.4(ACAT1):c.730+6G>C
|
|
|
|
NM_000019.4(ACAT1):c.730+8T>G
|
rs1203808396
|
|
|
NM_000019.4(ACAT1):c.731-10_731-8del
|
|
|
|
NM_000019.4(ACAT1):c.731-20T>C
|
|
|
|
NM_000019.4(ACAT1):c.731-20T>G
|
|
|
|
NM_000019.4(ACAT1):c.731-6T>C
|
rs574669264
|
|
|
NM_000019.4(ACAT1):c.732T>A (p.Gly244=)
|
rs2134768518
|
|
|
NM_000019.4(ACAT1):c.733C>T (p.Gln245Ter)
|
rs2134768525
|
|
|
NM_000019.4(ACAT1):c.738A>G (p.Pro246=)
|
rs2134768546
|
|
|
NM_000019.4(ACAT1):c.742G>A (p.Val248Ile)
|
|
|
|
NM_000019.4(ACAT1):c.744_746del (p.Val250del)
|
|
|
|
NM_000019.4(ACAT1):c.747G>C (p.Val249=)
|
|
|
|
NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)
|
|
|
|
NM_000019.4(ACAT1):c.763G>T (p.Glu255Ter)
|
rs2134768688
|
|
|
NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)
|
|
|
|
NM_000019.4(ACAT1):c.76dup (p.Ile26fs)
|
|
|
|
NM_000019.4(ACAT1):c.774T>G (p.Arg258=)
|
rs778592070
|
|
|
NM_000019.4(ACAT1):c.777T>C (p.Val259=)
|
rs2134768842
|
|
|
NM_000019.4(ACAT1):c.787A>T (p.Lys263Ter)
|
rs2134768866
|
|
|
NM_000019.4(ACAT1):c.789del (p.Val264fs)
|
|
|
|
NM_000019.4(ACAT1):c.806_807del (p.Thr269fs)
|
|
|
|
NM_000019.4(ACAT1):c.807A>G (p.Thr269=)
|
rs2134768930
|
|
|
NM_000019.4(ACAT1):c.810T>C (p.Val270=)
|
rs768923639
|
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
|
NM_000019.4(ACAT1):c.826+10A>G
|
|
|
|
NM_000019.4(ACAT1):c.826+15A>G
|
|
|
|
NM_000019.4(ACAT1):c.826+16T>C
|
|
|
|
NM_000019.4(ACAT1):c.826+19A>C
|
|
|
|
NM_000019.4(ACAT1):c.826+20G>A
|
|
|
|
NM_000019.4(ACAT1):c.826+2T>C
|
rs2077590197
|
|
|
NM_000019.4(ACAT1):c.826+3_826+6del
|
|
|
|
NM_000019.4(ACAT1):c.826+7G>A
|
|
|
|
NM_000019.4(ACAT1):c.827-12T>G
|
rs2134772377
|
|
|
NM_000019.4(ACAT1):c.827-16T>A
|
|
|
|
NM_000019.4(ACAT1):c.827-16T>C
|
|
|
|
NM_000019.4(ACAT1):c.827-16_827-15del
|
|
|
|
NM_000019.4(ACAT1):c.827-17C>G
|
|
|
|
NM_000019.4(ACAT1):c.827-18C>A
|
|
|
|
NM_000019.4(ACAT1):c.831A>G (p.Thr277=)
|
rs2077608173
|
|
|
NM_000019.4(ACAT1):c.835del (p.Thr279fs)
|
|
|
|
NM_000019.4(ACAT1):c.838G>A (p.Ala280Thr)
|
rs1318357125
|
|
|
NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)
|
rs749873354
|
|
|
NM_000019.4(ACAT1):c.846T>C (p.Asn282=)
|
rs2134772561
|
|
|
NM_000019.4(ACAT1):c.846dup (p.Ala283fs)
|
rs2134772571
|
|
|
NM_000019.4(ACAT1):c.852T>C (p.Ser284=)
|
|
|
|
NM_000019.4(ACAT1):c.854C>T (p.Thr285Ile)
|
rs1239221388
|
|
|
NM_000019.4(ACAT1):c.855A>C (p.Thr285=)
|
|
|
|
NM_000019.4(ACAT1):c.855A>G (p.Thr285=)
|
|
|
|
NM_000019.4(ACAT1):c.861T>C (p.Asn287=)
|
|
|
|
NM_000019.4(ACAT1):c.867A>T (p.Gly289=)
|
|
|
|
NM_000019.4(ACAT1):c.869dup (p.Ala291fs)
|
|
|
|
NM_000019.4(ACAT1):c.876T>C (p.Ala292=)
|
|
|
|
NM_000019.4(ACAT1):c.879G>A (p.Leu293=)
|
|
|
|
NM_000019.4(ACAT1):c.886A>T (p.Met296Leu)
|
|
|
|
NM_000019.4(ACAT1):c.890C>A (p.Thr297Lys)
|
rs886041122
|
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
|
NM_000019.4(ACAT1):c.903G>T (p.Ala301=)
|
rs75811190
|
|
|
NM_000019.4(ACAT1):c.905del (p.Lys302fs)
|
rs398123097
|
|
|
NM_000019.4(ACAT1):c.912C>A (p.Leu304=)
|
|
|
|
NM_000019.4(ACAT1):c.915T>C (p.Asn305=)
|
rs2134773010
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
|
NM_000019.4(ACAT1):c.930A>G (p.Ala310=)
|
|
|
|
NM_000019.4(ACAT1):c.934A>G (p.Ile312Val)
|
|
|
|
NM_000019.4(ACAT1):c.936A>T (p.Ile312=)
|
|
|
|
NM_000019.4(ACAT1):c.93G>A (p.Arg31=)
|
|
|
|
NM_000019.4(ACAT1):c.940+12C>A
|
|
|
|
NM_000019.4(ACAT1):c.940+12C>G
|
|
|
|
NM_000019.4(ACAT1):c.940+13G>A
|
|
|
|
NM_000019.4(ACAT1):c.940+14_940+18del
|
|
|
|
NM_000019.4(ACAT1):c.940+15G>A
|
|
|
|
NM_000019.4(ACAT1):c.940+15_940+25del
|
|
|
|
NM_000019.4(ACAT1):c.940+16_940+20del
|
rs2134773385
|
|
|
NM_000019.4(ACAT1):c.940+1G>T
|
rs1591371185
|
|
|
NM_000019.4(ACAT1):c.940+20C>G
|
|
|
|
NM_000019.4(ACAT1):c.940+2T>C
|
rs963023006
|
|
|
NM_000019.4(ACAT1):c.940+2dup
|
rs2134773243
|
|
|
NM_000019.4(ACAT1):c.940+7C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-13T>C
|
rs760991373
|
|
|
NM_000019.4(ACAT1):c.941-14_941-13del
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-15C>T
|
rs759374737
|
|
|
NM_000019.4(ACAT1):c.941-16C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-16C>G
|
rs770980645
|
|
|
NM_000019.4(ACAT1):c.941-16C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-16_941-15insA
|
|
|
|
NM_000019.4(ACAT1):c.941-17C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-17C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-18C>G
|
|
|
|
NM_000019.4(ACAT1):c.941-18C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-18_941-17insG
|
|
|
|
NM_000019.4(ACAT1):c.941-19C>T
|
|
|
|
NM_000019.4(ACAT1):c.941-20C>A
|
|
|
|
NM_000019.4(ACAT1):c.941-7del
|
rs376661693
|
|
|
NM_000019.4(ACAT1):c.960A>G (p.Val320=)
|
|
|
|
NM_000019.4(ACAT1):c.962_963del (p.Glu321fs)
|
|
|
|
NM_000019.4(ACAT1):c.972T>C (p.Asp324=)
|
|
|
|
NM_000019.4(ACAT1):c.976C>G (p.Pro326Ala)
|
|
|
|
NM_000019.4(ACAT1):c.984T>A (p.Ala328=)
|
rs745826234
|
|
|
NM_000019.4(ACAT1):c.987T>C (p.Pro329=)
|
|
|
|
NM_000019.4(ACAT1):c.996T>C (p.Ala332=)
|
rs2134780546
|
|
|
NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)
|
|
|
|
NM_000019.4(ACAT1):c.9G>A (p.Val3=)
|
|
|
|
NM_000026.4(ADSL):c.-10C>G
|
|
|
|
NM_000026.4(ADSL):c.-15G>A
|
|
|
|
NM_000026.4(ADSL):c.-18C>A
|
rs745531733
|
|
|
NM_000026.4(ADSL):c.-20G>T
|
rs1601542242
|
|
|
NM_000026.4(ADSL):c.-21T>A
|
|
|
|
NM_000026.4(ADSL):c.-27C>A
|
rs1294310669
|
|
|
NM_000026.4(ADSL):c.-35G>C
|
rs750649096
|
|
|
NM_000026.4(ADSL):c.-35G>T
|
rs750649096
|
|
|
NM_000026.4(ADSL):c.-37C>T
|
|
|
|
NM_000026.4(ADSL):c.-44C>G
|
rs763900902
|
|
|
NM_000026.4(ADSL):c.-51G>A
|
|
|
|
NM_000026.4(ADSL):c.1005C>G (p.Ala335=)
|
|
|
|
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)
|
rs2146663691
|
|
|
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)
|
rs761493155
|
|
|
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)
|
rs1434292876
|
|
|
NM_000026.4(ADSL):c.1010+1G>C
|
|
|
|
NM_000026.4(ADSL):c.1011-17G>A
|
|
|
|
NM_000026.4(ADSL):c.1011-5del
|
rs1569101323
|
|
|
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)
|
|
|
|
NM_000026.4(ADSL):c.1026C>T (p.Ala342=)
|
rs1280553241
|
|
|
NM_000026.4(ADSL):c.1026del (p.Glu343fs)
|
rs2146667709
|
|
|
NM_000026.4(ADSL):c.1029G>A (p.Glu343=)
|
|
|
|
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)
|
rs2146667776
|
|
|
NM_000026.4(ADSL):c.1062G>A (p.Thr354=)
|
|
|
|
NM_000026.4(ADSL):c.1080A>G (p.Glu360=)
|
|
|
|
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)
|
|
|
|
NM_000026.4(ADSL):c.1092G>A (p.Val364=)
|
rs1303477707
|
|
|
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)
|
rs879257322
|
|
|
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)
|
|
|
|
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)
|
rs2146612211
|
|
|
NM_000026.4(ADSL):c.1101+10C>T
|
rs1274084136
|
|
|
NM_000026.4(ADSL):c.1101+6_1101+8del
|
rs2146668021
|
|
|
NM_000026.4(ADSL):c.1102-12C>G
|
|
|
|
NM_000026.4(ADSL):c.1102-14A>G
|
|
|
|
NM_000026.4(ADSL):c.1102-16G>T
|
rs200428249
|
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
|
NM_000026.4(ADSL):c.1102-7C>T
|
rs1001524766
|
|
|
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)
|
rs777359946
|
|
|
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)
|
|
|
|
NM_000026.4(ADSL):c.1122G>T (p.Arg374=)
|
rs2146671725
|
|
|
NM_000026.4(ADSL):c.1128G>A (p.Glu376=)
|
rs796052247
|
|
|
NM_000026.4(ADSL):c.1152C>T (p.Asn384=)
|
|
|
|
NM_000026.4(ADSL):c.1187del (p.Arg396fs)
|
rs2044916556
|
|
|
NM_000026.4(ADSL):c.1191+10C>G
|
rs974462495
|
|
|
NM_000026.4(ADSL):c.1191+11C>A
|
rs1057523739
|
|
|
NM_000026.4(ADSL):c.1191+12dup
|
rs1383604211
|
|
|
NM_000026.4(ADSL):c.1191+17G>A
|
rs1160304907
|
|
|
NM_000026.4(ADSL):c.1192-11T>C
|
|
|
|
NM_000026.4(ADSL):c.1192-12C>T
|
|
|
|
NM_000026.4(ADSL):c.1192-20A>C
|
|
|
|
NM_000026.4(ADSL):c.1192-20A>G
|
|
|
|
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)
|
rs766546584
|
|
|
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)
|
rs754714101
|
|
|
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)
|
rs747964752
|
|
|
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)
|
rs2146673676
|
|
|
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)
|
rs774693972
|
|
|
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)
|
rs2044942817
|
|
|
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)
|
rs778107338
|
|
|
NM_000026.4(ADSL):c.1266C>T (p.Asp422=)
|
|
|
|
NM_000026.4(ADSL):c.1269C>A (p.Leu423=)
|
rs2146673771
|
|
|
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)
|
|
|
|
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)
|
|
|
|
NM_000026.4(ADSL):c.1314C>G (p.Ser438=)
|
rs2146674013
|
|
|
NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)
|
|
|
|
NM_000026.4(ADSL):c.1317G>A (p.Gln439=)
|
|
|
|
NM_000026.4(ADSL):c.1318T>C (p.Leu440=)
|
rs2044946403
|
|
|
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)
|
rs796052252
|
|
|
NM_000026.4(ADSL):c.1338T>G (p.Pro446=)
|
|
|
|
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)
|
rs1265053994
|
|
|
NM_000026.4(ADSL):c.1346dup (p.Thr450fs)
|
|
|
|
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)
|
rs372895468
|
|
|
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)
|
|
|
|
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)
|
rs775671027
|
|
|
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)
|
rs2044948939
|
|
|
NM_000026.4(ADSL):c.1359C>T (p.Ala453=)
|
rs1601598300
|
|
|
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)
|
rs774435749
|
|
|
NM_000026.4(ADSL):c.1364dup (p.Gln456fs)
|
|
|
|
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)
|
rs1011687452
|
|
|
NM_000026.4(ADSL):c.1368+14A>C
|
|
|
|
NM_000026.4(ADSL):c.1368+18C>T
|
|
|
|
NM_000026.4(ADSL):c.1368+4A>C
|
rs2146674336
|
|
|
NM_000026.4(ADSL):c.1368+8del
|
rs758319423
|
|
|
NM_000026.4(ADSL):c.1368G>A (p.Gln456=)
|
|
|
|
NM_000026.4(ADSL):c.1369-19A>G
|
|
|
|
NM_000026.4(ADSL):c.1369-7C>G
|
rs780296394
|
|
|
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)
|
rs747385959
|
|
|
NM_000026.4(ADSL):c.136C>T (p.Leu46=)
|
|
|
|
NM_000026.4(ADSL):c.1371dup (p.Gln458fs)
|
|
|
|
NM_000026.4(ADSL):c.1380C>T (p.Phe460=)
|
rs2146678362
|
|
|
NM_000026.4(ADSL):c.1381T>C (p.Leu461=)
|
|
|
|
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)
|
rs1057521071
|
|
|
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)
|
rs768999974
|
|
|
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)
|
rs759704594
|
|
|
NM_000026.4(ADSL):c.1413A>G (p.Pro471=)
|
rs796674225
|
|
|
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)
|
rs748593655
|
|
|
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)
|
rs1158489609
|
|
|
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)
|
rs773810168
|
|
|
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)
|
|
|
|
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)
|
|
|
|
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)
|
rs1424823421
|
|
|
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)
|
rs371242331
|
|
|
NM_000026.4(ADSL):c.1452G>C (p.Leu484=)
|
|
|
|
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)
|
|
|
|
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)
|
rs1193437955
|
|
|
NM_000026.4(ADSL):c.153+10C>A
|
rs751038604
|
|
|
NM_000026.4(ADSL):c.153+10C>G
|
|
|
|
NM_000026.4(ADSL):c.153+12C>T
|
rs780869214
|
|
|
NM_000026.4(ADSL):c.153+16C>G
|
|
|
|
NM_000026.4(ADSL):c.153+18G>A
|
|
|
|
NM_000026.4(ADSL):c.153+19A>G
|
rs2146613300
|
|
|
NM_000026.4(ADSL):c.153+1G>T
|
rs1555903969
|
|
|
NM_000026.4(ADSL):c.153+7G>C
|
|
|
|
NM_000026.4(ADSL):c.154-12C>T
|
|
|
|
NM_000026.4(ADSL):c.154-7del
|
rs1452778583
|
|
|
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)
|
rs1380095056
|
|
|
NM_000026.4(ADSL):c.15C>T (p.Gly5=)
|
rs751781160
|
|
|
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)
|
rs765813625
|
|
|
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)
|
rs544172142
|
|
|
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)
|
|
|
|
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)
|
rs1314470860
|
|
|
NM_000026.4(ADSL):c.183A>C (p.Gln61His)
|
rs1601551862
|
|
|
NM_000026.4(ADSL):c.187del (p.Gln63fs)
|
rs2146622848
|
|
|
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)
|
|
|
|
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile)
|
rs796052251
|
|
|
NM_000026.4(ADSL):c.19C>G (p.His7Asp)
|
rs778590882
|
|
|
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)
|
rs145786986
|
|
|
NM_000026.4(ADSL):c.216C>T (p.Ile72=)
|
rs145786986
|
|
|
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn)
|
rs745787396
|
|
|
NM_000026.4(ADSL):c.225G>A (p.Lys75=)
|
|
|
|
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)
|
rs145306334
|
|
|
NM_000026.4(ADSL):c.227T>C (p.Met76Thr)
|
|
|
|
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)
|
rs768958353
|
|
|
NM_000026.4(ADSL):c.248G>A (p.Arg83His)
|
|
|
|
NM_000026.4(ADSL):c.257A>G (p.His86Arg)
|
rs2044280567
|
|
|
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)
|
rs763852823
|
|
|
NM_000026.4(ADSL):c.278A>G (p.His93Arg)
|
|
|
|
NM_000026.4(ADSL):c.282A>G (p.Thr94=)
|
|
|
|
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)
|
rs768340455
|
|
|
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)
|
|
|
|
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)
|
rs2146623366
|
|
|
NM_000026.4(ADSL):c.31G>C (p.Asp11His)
|
rs761759515
|
|
|
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)
|
|
|
|
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)
|
rs1035500320
|
|
|
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)
|
rs768596079
|
|
|
NM_000026.4(ADSL):c.357+10T>G
|
rs2146623665
|
|
|
NM_000026.4(ADSL):c.357+15_357+22dup
|
|
|
|
NM_000026.4(ADSL):c.357+7G>T
|
rs199993991
|
|
|
NM_000026.4(ADSL):c.357T>C (p.Thr119=)
|
rs2146623601
|
|
|
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)
|
rs773098808
|
|
|
NM_000026.4(ADSL):c.372del (p.Arg125fs)
|
|
|
|
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)
|
|
|
|
NM_000026.4(ADSL):c.393T>C (p.Leu131=)
|
|
|
|
NM_000026.4(ADSL):c.39C>T (p.Tyr13=)
|
|
|
|
NM_000026.4(ADSL):c.402+12G>C
|
|
|
|
NM_000026.4(ADSL):c.402+18G>A
|
rs753085563
|
|
|
NM_000026.4(ADSL):c.402+1G>T
|
rs761551284
|
|
|
NM_000026.4(ADSL):c.402+6G>A
|
rs2146634344
|
|
|
NM_000026.4(ADSL):c.403-16A>G
|
|
|
|
NM_000026.4(ADSL):c.403-1G>C
|
|
|
|
NM_000026.4(ADSL):c.403-21_403-6del
|
|
|
|
NM_000026.4(ADSL):c.403-5T>C
|
|
|
|
NM_000026.4(ADSL):c.403-7C>A
|
rs1601565699
|
|
|
NM_000026.4(ADSL):c.403-7C>T
|
rs1601565699
|
|
|
NM_000026.4(ADSL):c.403-7del
|
|
|
|
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)
|
rs1569091418
|
|
|
NM_000026.4(ADSL):c.414G>A (p.Val138=)
|
|
|
|
NM_000026.4(ADSL):c.414G>C (p.Val138=)
|
|
|
|
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)
|
rs371824098
|
|
|
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)
|
rs563054392
|
|
|
NM_000026.4(ADSL):c.435T>C (p.Phe145=)
|
rs2146638742
|
|
|
NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)
|
|
|
|
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)
|
rs747546394
|
|
|
NM_000026.4(ADSL):c.462A>G (p.Thr154=)
|
rs963510054
|
|
|
NM_000026.4(ADSL):c.480C>T (p.Phe160=)
|
|
|
|
NM_000026.4(ADSL):c.482+16A>C
|
rs921958536
|
|
|
NM_000026.4(ADSL):c.482+16A>T
|
|
|
|
NM_000026.4(ADSL):c.482+3A>T
|
|
|
|
NM_000026.4(ADSL):c.482+8A>G
|
rs886042606
|
|
|
NM_000026.4(ADSL):c.483-13T>C
|
|
|
|
NM_000026.4(ADSL):c.483-14C>T
|
|
|
|
NM_000026.4(ADSL):c.483-19G>A
|
|
|
|
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)
|
rs1385675650
|
|
|
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)
|
|
|
|
NM_000026.4(ADSL):c.51T>A (p.Leu17=)
|
rs2146612540
|
|
|
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)
|
|
|
|
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)
|
rs768542145
|
|
|
NM_000026.4(ADSL):c.543G>A (p.Met181Ile)
|
|
|
|
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)
|
rs1569096551
|
|
|
NM_000026.4(ADSL):c.555C>T (p.Asn185=)
|
|
|
|
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)
|
|
|
|
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)
|
|
|
|
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)
|
|
|
|
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)
|
|
|
|
NM_000026.4(ADSL):c.576C>A (p.Asp192Glu)
|
|
|
|
NM_000026.4(ADSL):c.581G>A (p.Arg194His)
|
rs755359802
|
|
|
NM_000026.4(ADSL):c.587G>T (p.Arg196Leu)
|
|
|
|
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)
|
rs2146653850
|
|
|
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)
|
rs143083947
|
|
|
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)
|
rs2044668344
|
|
|
NM_000026.4(ADSL):c.60C>T (p.Arg20=)
|
|
|
|
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)
|
rs745524617
|
|
|
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)
|
rs746848060
|
|
|
NM_000026.4(ADSL):c.618C>T (p.Ala206=)
|
|
|
|
NM_000026.4(ADSL):c.621T>C (p.Ser207=)
|
|
|
|
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)
|
rs1410270058
|
|
|
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)
|
|
|
|
NM_000026.4(ADSL):c.633C>G (p.Leu211=)
|
|
|
|
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)
|
|
|
|
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)
|
rs1311483271
|
|
|
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)
|
rs199761158
|
|
|
NM_000026.4(ADSL):c.655-14C>A
|
|
|
|
NM_000026.4(ADSL):c.655-16G>C
|
|
|
|
NM_000026.4(ADSL):c.655-42_655-8del
|
rs2146654480
|
|
|
NM_000026.4(ADSL):c.655-9C>G
|
rs1334564416
|
|
|
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)
|
rs1555907605
|
|
|
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)
|
rs1555907605
|
|
|
NM_000026.4(ADSL):c.666del (p.Asp223fs)
|
rs1268082439
|
|
|
NM_000026.4(ADSL):c.684A>G (p.Glu228=)
|
rs2146654775
|
|
|
NM_000026.4(ADSL):c.701+16T>A
|
|
|
|
NM_000026.4(ADSL):c.701+1G>A
|
rs546878201
|
|
|
NM_000026.4(ADSL):c.701+1G>T
|
|
|
|
NM_000026.4(ADSL):c.701+3A>G
|
|
|
|
NM_000026.4(ADSL):c.701+7A>C
|
|
|
|
NM_000026.4(ADSL):c.702-15T>C
|
rs2146658569
|
|
|
NM_000026.4(ADSL):c.702-5C>G
|
rs751224448
|
|
|
NM_000026.4(ADSL):c.702-7T>A
|
rs201509960
|
|
|
NM_000026.4(ADSL):c.708C>T (p.Phe236=)
|
rs1210367027
|
|
|
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)
|
rs2146658688
|
|
|
NM_000026.4(ADSL):c.72G>A (p.Pro24=)
|
rs1279175740
|
|
|
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)
|
rs2146658733
|
|
|
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)
|
rs769288234
|
|
|
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)
|
|
|
|
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)
|
rs1601586537
|
|
|
NM_000026.4(ADSL):c.780A>C (p.Ala260=)
|
|
|
|
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)
|
rs2044740915
|
|
|
NM_000026.4(ADSL):c.792+15C>T
|
|
|
|
NM_000026.4(ADSL):c.792+17T>C
|
|
|
|
NM_000026.4(ADSL):c.792+5G>C
|
rs761153103
|
|
|
NM_000026.4(ADSL):c.793-11A>G
|
|
|
|
NM_000026.4(ADSL):c.793-13C>T
|
|
|
|
NM_000026.4(ADSL):c.793-19A>C
|
|
|
|
NM_000026.4(ADSL):c.793-3C>T
|
rs2044774129
|
|
|
NM_000026.4(ADSL):c.802G>C (p.Asp268His)
|
|
|
|
NM_000026.4(ADSL):c.807dup (p.Arg270fs)
|
|
|
|
NM_000026.4(ADSL):c.816G>A (p.Leu272=)
|
|
|
|
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)
|
rs962521087
|
|
|
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)
|
rs2146662052
|
|
|
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)
|
rs2044777708
|
|
|
NM_000026.4(ADSL):c.831G>A (p.Glu277=)
|
|
|
|
NM_000026.4(ADSL):c.832A>G (p.Met278Val)
|
rs2044778052
|
|
|
NM_000026.4(ADSL):c.837G>A (p.Glu279=)
|
|
|
|
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)
|
rs371529148
|
|
|
NM_000026.4(ADSL):c.843C>T (p.Pro281=)
|
rs1555908183
|
|
|
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)
|
rs2146662152
|
|
|
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)
|
rs1209918065
|
|
|
NM_000026.4(ADSL):c.862+14A>G
|
|
|
|
NM_000026.4(ADSL):c.862+9T>C
|
|
|
|
NM_000026.4(ADSL):c.863-11T>C
|
rs375532126
|
|
|
NM_000026.4(ADSL):c.863-11dup
|
|
|
|
NM_000026.4(ADSL):c.863-12T>C
|
|
|
|
NM_000026.4(ADSL):c.863-18C>T
|
rs2146662900
|
|
|
NM_000026.4(ADSL):c.863-20T>G
|
rs760407114
|
|
|
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)
|
rs2044788172
|
|
|
NM_000026.4(ADSL):c.885G>A (p.Lys295=)
|
|
|
|
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)
|
rs2044789747
|
|
|
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)
|
rs369617680
|
|
|
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)
|
rs2044145822
|
|
|
NM_000026.4(ADSL):c.908G>A (p.Arg303His)
|
|
|
|
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)
|
rs2146663371
|
|
|
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)
|
rs1006262492
|
|
|
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)
|
rs2044790556
|
|
|
NM_000026.4(ADSL):c.954G>A (p.Pro318=)
|
|
|
|
NM_000026.4(ADSL):c.955del (p.Leu319fs)
|
rs1569099793
|
|
|
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)
|
rs1243449413
|
|
|
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)
|
rs1484677062
|
|
|
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)
|
rs2044792794
|
|
|
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)
|
rs1224557562
|
|
|
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)
|
|
|
|
NM_000026.4(ADSL):c.97A>C (p.Arg33=)
|
|
|
|
NM_000026.4(ADSL):c.990A>G (p.Thr330=)
|
|
|
|
NM_000026.4(ADSL):c.999T>C (p.Asp333=)
|
rs2146663670
|
|
|
NM_000026.4(ADSL):c.9T>C (p.Ala3=)
|
rs758676257
|
|
|
NM_000045.4(ARG1):c.100G>T (p.Ala34Ser)
|
rs2114519325
|
|
|
NM_000045.4(ARG1):c.104G>A (p.Gly35Asp)
|
|
|
|
NM_000045.4(ARG1):c.111T>C (p.Leu37=)
|
|
|
|
NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)
|
rs748744950
|
|
|
NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)
|
|
|
|
NM_000045.4(ARG1):c.124_126del (p.Glu42del)
|
rs779949397
|
|
|
NM_000045.4(ARG1):c.128A>G (p.Gln43Arg)
|
|
|
|
NM_000045.4(ARG1):c.129del (p.Glu44fs)
|
rs1169538148
|
|
|
NM_000045.4(ARG1):c.130+10_130+13dup
|
rs2114519466
|
|
|
NM_000045.4(ARG1):c.130+11A>G
|
rs2114519480
|
|
|
NM_000045.4(ARG1):c.130+1G>A
|
rs113767658
|
|
|
NM_000045.4(ARG1):c.130+20del
|
|
|
|
NM_000045.4(ARG1):c.130+8_130+9del
|
|
|
|
NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT
|
|
|
|
NM_000045.4(ARG1):c.130G>C (p.Glu44Gln)
|
rs1562354102
|
|
|
NM_000045.4(ARG1):c.131-10_131-9del
|
rs1160133142
|
|
|
NM_000045.4(ARG1):c.131-14C>T
|
|
|
|
NM_000045.4(ARG1):c.131-19C>G
|
|
|
|
NM_000045.4(ARG1):c.131-1G>C
|
rs1773782306
|
|
|
NM_000045.4(ARG1):c.131-1G>T
|
|
|
|
NM_000045.4(ARG1):c.131-4T>A
|
|
|
|
NM_000045.4(ARG1):c.131-7_131-2del
|
rs768972828
|
|
|
NM_000045.4(ARG1):c.131-9T>A
|
|
|
|
NM_000045.4(ARG1):c.131-9T>C
|
|
|
|
NM_000045.4(ARG1):c.136G>A (p.Asp46Asn)
|
rs1773782658
|
|
|
NM_000045.4(ARG1):c.141G>A (p.Val47=)
|
|
|
|
NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)
|
rs1773783170
|
|
|
NM_000045.4(ARG1):c.144G>A (p.Lys48=)
|
|
|
|
NM_000045.4(ARG1):c.14C>G (p.Ser5Cys)
|
|
|
|
NM_000045.4(ARG1):c.157C>T (p.Leu53=)
|
|
|
|
NM_000045.4(ARG1):c.157del (p.Leu53fs)
|
|
|
|
NM_000045.4(ARG1):c.159G>A (p.Leu53=)
|
|
|
|
NM_000045.4(ARG1):c.159G>T (p.Leu53=)
|
|
|
|
NM_000045.4(ARG1):c.159_163del (p.Pro54fs)
|
|
|
|
NM_000045.4(ARG1):c.162C>T (p.Pro54=)
|
|
|
|
NM_000045.4(ARG1):c.168T>A (p.Ala56=)
|
|
|
|
NM_000045.4(ARG1):c.16A>G (p.Arg6Gly)
|
rs1190948767
|
|
|
NM_000045.4(ARG1):c.171C>T (p.Asp57=)
|
|
|
|
NM_000045.4(ARG1):c.183C>T (p.Asp61=)
|
rs2114530488
|
|
|
NM_000045.4(ARG1):c.189C>G (p.Pro63=)
|
rs2114530548
|
|
|
NM_000045.4(ARG1):c.189del (p.Gln65fs)
|
rs1562356664
|
|
|
NM_000045.4(ARG1):c.198T>C (p.Ile66=)
|
rs2114530584
|
|
|
NM_000045.4(ARG1):c.19A>C (p.Thr7Pro)
|
rs989204710
|
|
|
NM_000045.4(ARG1):c.207T>G (p.Asn69Lys)
|
rs1554250510
|
|
|
NM_000045.4(ARG1):c.218T>G (p.Val73Gly)
|
rs867223787
|
|
|
NM_000045.4(ARG1):c.231C>T (p.Ser77=)
|
|
|
|
NM_000045.4(ARG1):c.232G>A (p.Glu78Lys)
|
|
|
|
NM_000045.4(ARG1):c.237G>C (p.Gln79His)
|
|
|
|
NM_000045.4(ARG1):c.23T>A (p.Ile8Lys)
|
rs149310631
|
|
|
NM_000045.4(ARG1):c.241G>A (p.Ala81Thr)
|
rs142107090
|
|
|
NM_000045.4(ARG1):c.241G>T (p.Ala81Ser)
|
|
|
|
NM_000045.4(ARG1):c.242C>T (p.Ala81Val)
|
|
|
|
NM_000045.4(ARG1):c.243T>C (p.Ala81=)
|
rs1773789074
|
|
|
NM_000045.4(ARG1):c.252G>A (p.Val84=)
|
|
|
|
NM_000045.4(ARG1):c.255A>G (p.Ala85=)
|
rs2114530857
|
|
|
NM_000045.4(ARG1):c.261C>A (p.Val87=)
|
|
|
|
NM_000045.4(ARG1):c.263_266del (p.Lys88fs)
|
rs1773790103
|
|
|
NM_000045.4(ARG1):c.264G>A (p.Lys88=)
|
|
|
|
NM_000045.4(ARG1):c.272del (p.Gly91fs)
|
rs796051923
|
|
|
NM_000045.4(ARG1):c.272dup (p.Arg92fs)
|
rs796051923
|
|
|
NM_000045.4(ARG1):c.275G>T (p.Arg92Ile)
|
|
|
|
NM_000045.4(ARG1):c.282C>T (p.Ser94=)
|
|
|
|
NM_000045.4(ARG1):c.283C>T (p.Leu95=)
|
rs2114531019
|
|
|
NM_000045.4(ARG1):c.291G>A (p.Leu97=)
|
rs2114531053
|
|
|
NM_000045.4(ARG1):c.297A>C (p.Gly99=)
|
rs2114531110
|
|
|
NM_000045.4(ARG1):c.2T>C (p.Met1Thr)
|
rs1554249332
|
|
|
NM_000045.4(ARG1):c.305+11A>G
|
|
|
|
NM_000045.4(ARG1):c.305+16T>C
|
|
|
|
NM_000045.4(ARG1):c.306-10_306-9delinsCT
|
rs2114539119
|
|
|
NM_000045.4(ARG1):c.306-10dup
|
|
|
|
NM_000045.4(ARG1):c.306-11T>C
|
|
|
|
NM_000045.4(ARG1):c.306-12T>C
|
|
|
|
NM_000045.4(ARG1):c.306-15T>C
|
|
|
|
NM_000045.4(ARG1):c.306-16del
|
rs543245025
|
|
|
NM_000045.4(ARG1):c.306-1G>T
|
|
|
|
NM_000045.4(ARG1):c.306-1_307dup
|
|
|
|
NM_000045.4(ARG1):c.306-1del
|
|
|
|
NM_000045.4(ARG1):c.306-7C>T
|
|
|
|
NM_000045.4(ARG1):c.306-9C>T
|
|
|
|
NM_000045.4(ARG1):c.30T>C (p.Ile10=)
|
|
|
|
NM_000045.4(ARG1):c.312A>T (p.Ala104=)
|
rs995938048
|
|
|
NM_000045.4(ARG1):c.314T>C (p.Ile105Thr)
|
|
|
|
NM_000045.4(ARG1):c.318A>G (p.Gly106=)
|
|
|
|
NM_000045.4(ARG1):c.321C>T (p.Ser107=)
|
|
|
|
NM_000045.4(ARG1):c.326_353del (p.Ser109fs)
|
|
|
|
NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)
|
rs28941474
|
|
|
NM_000045.4(ARG1):c.330C>A (p.Gly110=)
|
|
|
|
NM_000045.4(ARG1):c.330C>T (p.Gly110=)
|
rs1296548302
|
|
|
NM_000045.4(ARG1):c.336C>G (p.Ala112=)
|
|
|
|
NM_000045.4(ARG1):c.336C>T (p.Ala112=)
|
rs1585419820
|
|
|
NM_000045.4(ARG1):c.336dup (p.Arg113fs)
|
rs1773906992
|
|
|
NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)
|
|
|
|
NM_000045.4(ARG1):c.357A>C (p.Gly119=)
|
|
|
|
NM_000045.4(ARG1):c.362T>C (p.Ile121Thr)
|
|
|
|
NM_000045.4(ARG1):c.363C>T (p.Ile121=)
|
rs1585419999
|
|
|
NM_000045.4(ARG1):c.364T>G (p.Trp122Gly)
|
|
|
|
NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)
|
rs2114539596
|
|
|
NM_000045.4(ARG1):c.371A>G (p.Asp124Gly)
|
|
|
|
NM_000045.4(ARG1):c.374C>T (p.Ala125Val)
|
|
|
|
NM_000045.4(ARG1):c.375T>G (p.Ala125=)
|
|
|
|
NM_000045.4(ARG1):c.378C>T (p.His126=)
|
rs2114539679
|
|
|
NM_000045.4(ARG1):c.381T>C (p.Thr127=)
|
rs2114539712
|
|
|
NM_000045.4(ARG1):c.384T>C (p.Asp128=)
|
rs1216971255
|
|
|
NM_000045.4(ARG1):c.386T>C (p.Ile129Thr)
|
rs771165013
|
|
|
NM_000045.4(ARG1):c.390C>T (p.Asn130=)
|
rs774535167
|
|
|
NM_000045.4(ARG1):c.397C>T (p.Leu133=)
|
rs769778089
|
|
|
NM_000045.4(ARG1):c.399G>A (p.Leu133=)
|
|
|
|
NM_000045.4(ARG1):c.401C>T (p.Thr134Ile)
|
|
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
|
NM_000045.4(ARG1):c.420G>A (p.Leu140=)
|
|
|
|
NM_000045.4(ARG1):c.423T>C (p.His141=)
|
rs2114539979
|
|
|
NM_000045.4(ARG1):c.425del (p.Gly142fs)
|
rs1585420294
|
|
|
NM_000045.4(ARG1):c.429A>G (p.Gln143=)
|
|
|
|
NM_000045.4(ARG1):c.42T>G (p.Pro14=)
|
|
|
|
NM_000045.4(ARG1):c.434T>A (p.Val145Glu)
|
rs1773915383
|
|
|
NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)
|
|
|
|
NM_000045.4(ARG1):c.440T>C (p.Phe147Ser)
|
|
|
|
NM_000045.4(ARG1):c.447G>C (p.Leu149=)
|
|
|
|
NM_000045.4(ARG1):c.454C>T (p.Leu152=)
|
rs1562359129
|
|
|
NM_000045.4(ARG1):c.457_465+18del
|
|
|
|
NM_000045.4(ARG1):c.459dup (p.Gly154fs)
|
|
|
|
NM_000045.4(ARG1):c.462A>G (p.Gly154=)
|
|
|
|
NM_000045.4(ARG1):c.464dup (p.Ile156fs)
|
rs1773916575
|
|
|
NM_000045.4(ARG1):c.465+9C>T
|
|
|
|
NM_000045.4(ARG1):c.466-10G>A
|
rs1244186113
|
|
|
NM_000045.4(ARG1):c.466-13A>G
|
rs1448074178
|
|
|
NM_000045.4(ARG1):c.466-13A>T
|
|
|
|
NM_000045.4(ARG1):c.466-179_524del
|
rs2114544574
|
|
|
NM_000045.4(ARG1):c.473A>G (p.Asp158Gly)
|
rs2114545404
|
|
|
NM_000045.4(ARG1):c.475G>C (p.Val159Leu)
|
rs1270108834
|
|
|
NM_000045.4(ARG1):c.477G>A (p.Val159=)
|
rs2114545447
|
|
|
NM_000045.4(ARG1):c.48A>C (p.Ser16=)
|
rs1585391263
|
|
|
NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)
|
|
|
|
NM_000045.4(ARG1):c.492G>A (p.Trp164Ter)
|
rs146625637
|
|
|
NM_000045.4(ARG1):c.493dup (p.Val165fs)
|
|
|
|
NM_000045.4(ARG1):c.4A>G (p.Ser2Gly)
|
|
|
|
NM_000045.4(ARG1):c.505A>G (p.Ile169Val)
|
|
|
|
NM_000045.4(ARG1):c.50del (p.Lys17fs)
|
rs2114507395
|
|
|
NM_000045.4(ARG1):c.513C>T (p.Ala171=)
|
|
|
|
NM_000045.4(ARG1):c.516G>A (p.Lys172=)
|
|
|
|
NM_000045.4(ARG1):c.519T>C (p.Asp173=)
|
|
|
|
NM_000045.4(ARG1):c.51G>C (p.Lys17Asn)
|
|
|
|
NM_000045.4(ARG1):c.531T>C (p.Ile177=)
|
rs2114545822
|
|
|
NM_000045.4(ARG1):c.533G>A (p.Gly178Asp)
|
|
|
|
NM_000045.4(ARG1):c.534C>T (p.Gly178=)
|
rs2114545840
|
|
|
NM_000045.4(ARG1):c.549C>T (p.Asp183=)
|
rs1773993991
|
|
|
NM_000045.4(ARG1):c.54A>G (p.Gly18=)
|
|
|
|
NM_000045.4(ARG1):c.551C>A (p.Pro184His)
|
rs1773994839
|
|
|
NM_000045.4(ARG1):c.553G>C (p.Gly185Arg)
|
|
|
|
NM_000045.4(ARG1):c.560+15T>C
|
|
|
|
NM_000045.4(ARG1):c.560+19G>A
|
|
|
|
NM_000045.4(ARG1):c.560+2T>C
|
rs2114546081
|
|
|
NM_000045.4(ARG1):c.560A>G (p.His187Arg)
|
rs2114546062
|
|
|
NM_000045.4(ARG1):c.561-12TC[4]
|
|
|
|
NM_000045.4(ARG1):c.561-14T>C
|
rs1268205686
|
|
|
NM_000045.4(ARG1):c.561-20T>C
|
|
|
|
NM_000045.4(ARG1):c.561-6T>C
|
|
|
|
NM_000045.4(ARG1):c.561-7T>A
|
rs2114547549
|
|
|
NM_000045.4(ARG1):c.561-8T>C
|
rs2114547535
|
|
|
NM_000045.4(ARG1):c.561-9C>A
|
rs1261380741
|
|
|
NM_000045.4(ARG1):c.561-9C>G
|
rs1261380741
|
|
|
NM_000045.4(ARG1):c.561-9_561-8del
|
rs756783454
|
|
|
NM_000045.4(ARG1):c.562T>G (p.Tyr188Asp)
|
rs934942148
|
|
|
NM_000045.4(ARG1):c.568T>C (p.Leu190=)
|
|
|
|
NM_000045.4(ARG1):c.57+12A>G
|
|
|
|
NM_000045.4(ARG1):c.57+12A>T
|
|
|
|
NM_000045.4(ARG1):c.57+12del
|
rs757187110
|
|
|
NM_000045.4(ARG1):c.57+18dup
|
|
|
|
NM_000045.4(ARG1):c.57+1G>T
|
|
|
|
NM_000045.4(ARG1):c.57+20T>C
|
|
|
|
NM_000045.4(ARG1):c.57+2_57+6del
|
rs1288156431
|
|
|
NM_000045.4(ARG1):c.57+7A>G
|
|
|
|
NM_000045.4(ARG1):c.577_578del (p.Leu193fs)
|
rs766868484
|
|
|
NM_000045.4(ARG1):c.58-13_58-11del
|
rs2114518963
|
|
|
NM_000045.4(ARG1):c.58-16T>C
|
|
|
|
NM_000045.4(ARG1):c.58-17A>G
|
rs762210089
|
|
|
NM_000045.4(ARG1):c.58-17A>T
|
rs762210089
|
|
|
NM_000045.4(ARG1):c.58-18T>A
|
|
|
|
NM_000045.4(ARG1):c.58-18T>C
|
|
|
|
NM_000045.4(ARG1):c.58-2A>T
|
|
|
|
NM_000045.4(ARG1):c.58-8T>C
|
|
|
|
NM_000045.4(ARG1):c.582C>T (p.Gly194=)
|
|
|
|
NM_000045.4(ARG1):c.589T>C (p.Tyr197His)
|
|
|
|
NM_000045.4(ARG1):c.591C>T (p.Tyr197=)
|
rs2114547822
|
|
|
NM_000045.4(ARG1):c.594_595dup (p.Ser199fs)
|
|
|
|
NM_000045.4(ARG1):c.595T>G (p.Ser199Ala)
|
rs1313116151
|
|
|
NM_000045.4(ARG1):c.599_601del (p.Met200del)
|
rs1562360814
|
|
|
NM_000045.4(ARG1):c.59C>T (p.Pro20Leu)
|
rs766662245
|
|
|
NM_000045.4(ARG1):c.5G>T (p.Ser2Ile)
|
|
|
|
NM_000045.4(ARG1):c.603T>G (p.Thr201=)
|
rs767964970
|
|
|
NM_000045.4(ARG1):c.603_604del (p.Glu202fs)
|
rs2114547911
|
|
|
NM_000045.4(ARG1):c.603del (p.Glu202fs)
|
|
|
|
NM_000045.4(ARG1):c.61C>G (p.Arg21Gly)
|
rs104893944
|
|
|
NM_000045.4(ARG1):c.623T>C (p.Ile208Thr)
|
rs993784608
|
|
|
NM_000045.4(ARG1):c.627C>A (p.Gly209=)
|
rs2114548020
|
|
|
NM_000045.4(ARG1):c.63A>G (p.Arg21=)
|
rs2114519068
|
|
|
NM_000045.4(ARG1):c.640del (p.Glu214fs)
|
|
|
|
NM_000045.4(ARG1):c.645A>T (p.Thr215=)
|
rs2114548129
|
|
|
NM_000045.4(ARG1):c.646C>G (p.Leu216Val)
|
|
|
|
NM_000045.4(ARG1):c.646C>T (p.Leu216Phe)
|
|
|
|
NM_000045.4(ARG1):c.646_649del (p.Leu216fs)
|
rs756080885
|
|
|
NM_000045.4(ARG1):c.648C>T (p.Leu216=)
|
|
|
|
NM_000045.4(ARG1):c.657A>G (p.Leu219=)
|
|
|
|
NM_000045.4(ARG1):c.663A>G (p.Gly221=)
|
rs1452547824
|
|
|
NM_000045.4(ARG1):c.664A>G (p.Arg222Gly)
|
|
|
|
NM_000045.4(ARG1):c.665+11_665+27del
|
|
|
|
NM_000045.4(ARG1):c.665+13TG[3]
|
|
|
|
NM_000045.4(ARG1):c.665+18G>A
|
|
|
|
NM_000045.4(ARG1):c.665+19T>C
|
|
|
|
NM_000045.4(ARG1):c.665+20G>A
|
|
|
|
NM_000045.4(ARG1):c.665+23_665+36del
|
|
|
|
NM_000045.4(ARG1):c.665+2T>C
|
rs113645893
|
|
|
NM_000045.4(ARG1):c.665+7T>C
|
|
|
|
NM_000045.4(ARG1):c.665+7T>G
|
|
|
|
NM_000045.4(ARG1):c.665+9C>A
|
rs1774025291
|
|
|
NM_000045.4(ARG1):c.666-13C>T
|
|
|
|
NM_000045.4(ARG1):c.666-18_666-14del
|
|
|
|
NM_000045.4(ARG1):c.666-19C>T
|
rs774722903
|
|
|
NM_000045.4(ARG1):c.666-2A>C
|
|
|
|
NM_000045.4(ARG1):c.666-5A>G
|
|
|
|
NM_000045.4(ARG1):c.666-6T>C
|
rs2114549070
|
|
|
NM_000045.4(ARG1):c.668A>C (p.Lys223Thr)
|
rs1360594253
|
|
|
NM_000045.4(ARG1):c.673A>C (p.Arg225=)
|
|
|
|
NM_000045.4(ARG1):c.673A>G (p.Arg225Gly)
|
|
|
|
NM_000045.4(ARG1):c.673del (p.Arg225fs)
|
|
|
|
NM_000045.4(ARG1):c.67G>T (p.Gly23Trp)
|
|
|
|
NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer)
|
rs2114549176
|
|
|
NM_000045.4(ARG1):c.687A>C (p.Leu229=)
|
|
|
|
NM_000045.4(ARG1):c.687A>G (p.Leu229=)
|
rs780770809
|
|
|
NM_000045.4(ARG1):c.69G>A (p.Gly23=)
|
|
|
|
NM_000045.4(ARG1):c.700G>A (p.Asp234Asn)
|
rs1478297270
|
|
|
NM_000045.4(ARG1):c.707dup (p.Asp237fs)
|
|
|
|
NM_000045.4(ARG1):c.709G>A (p.Asp237Asn)
|
rs764273304
|
|
|
NM_000045.4(ARG1):c.709G>C (p.Asp237His)
|
rs764273304
|
|
|
NM_000045.4(ARG1):c.709G>T (p.Asp237Tyr)
|
|
|
|
NM_000045.4(ARG1):c.70G>C (p.Val24Leu)
|
rs2114519104
|
|
|
NM_000045.4(ARG1):c.724C>T (p.Pro242Ser)
|
|
|
|
NM_000045.4(ARG1):c.742G>C (p.Val248Leu)
|
rs751567681
|
|
|
NM_000045.4(ARG1):c.745G>A (p.Val249Met)
|
rs182650447
|
|
|
NM_000045.4(ARG1):c.745G>C (p.Val249Leu)
|
rs182650447
|
|
|
NM_000045.4(ARG1):c.75A>C (p.Glu25Asp)
|
|
|
|
NM_000045.4(ARG1):c.75A>G (p.Glu25=)
|
rs755973004
|
|
|
NM_000045.4(ARG1):c.760T>C (p.Tyr254His)
|
|
|
|
NM_000045.4(ARG1):c.762C>T (p.Tyr254=)
|
rs777639743
|
|
|
NM_000045.4(ARG1):c.766G>T (p.Glu256Ter)
|
rs2114549604
|
|
|
NM_000045.4(ARG1):c.767_769del (p.Glu256del)
|
rs1554251236
|
|
|
NM_000045.4(ARG1):c.769G>C (p.Gly257Arg)
|
rs372489226
|
|
|
NM_000045.4(ARG1):c.770G>T (p.Gly257Val)
|
|
|
|
NM_000045.4(ARG1):c.777C>T (p.Tyr259=)
|
rs775687110
|
|
|
NM_000045.4(ARG1):c.780C>T (p.Ile260=)
|
rs2114549662
|
|
|
NM_000045.4(ARG1):c.787G>A (p.Glu263Lys)
|
|
|
|
NM_000045.4(ARG1):c.789A>G (p.Glu263=)
|
|
|
|
NM_000045.4(ARG1):c.789A>T (p.Glu263Asp)
|
|
|
|
NM_000045.4(ARG1):c.792C>T (p.Ile264=)
|
rs1279130152
|
|
|
NM_000045.4(ARG1):c.795C>T (p.Tyr265=)
|
|
|
|
NM_000045.4(ARG1):c.7G>A (p.Ala3Thr)
|
rs558377642
|
|
|
NM_000045.4(ARG1):c.7G>C (p.Ala3Pro)
|
rs558377642
|
|
|
NM_000045.4(ARG1):c.802+12T>G
|
|
|
|
NM_000045.4(ARG1):c.802+15_802+19del
|
|
|
|
NM_000045.4(ARG1):c.802+1G>A
|
|
|
|
NM_000045.4(ARG1):c.802+4G>C
|
|
|
|
NM_000045.4(ARG1):c.802+9C>A
|
|
|
|
NM_000045.4(ARG1):c.802+9C>G
|
rs1317661902
|
|
|
NM_000045.4(ARG1):c.803-10G>A
|
rs2114550847
|
|
|
NM_000045.4(ARG1):c.803-12TTG[2]
|
|
|
|
NM_000045.4(ARG1):c.803-14A>G
|
rs1774057954
|
|
|
NM_000045.4(ARG1):c.803-17A>G
|
|
|
|
NM_000045.4(ARG1):c.803-20A>G
|
|
|
|
NM_000045.4(ARG1):c.803-9T>A
|
rs1296257255
|
|
|
NM_000045.4(ARG1):c.803-9T>C
|
rs1296257255
|
|
|
NM_000045.4(ARG1):c.804G>C (p.Gly268=)
|
rs747275658
|
|
|
NM_000045.4(ARG1):c.807_811del (p.Leu270fs)
|
rs1562361751
|
|
|
NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)
|
rs1326930389
|
|
|
NM_000045.4(ARG1):c.811_812del (p.Ser271fs)
|
rs1585429783
|
|
|
NM_000045.4(ARG1):c.817T>C (p.Leu273=)
|
|
|
|
NM_000045.4(ARG1):c.819del (p.Asp274fs)
|
rs2114551021
|
|
|
NM_000045.4(ARG1):c.81C>T (p.Gly27=)
|
rs2114519204
|
|
|
NM_000045.4(ARG1):c.820_823dup (p.Ile275fs)
|
rs1562361762
|
|
|
NM_000045.4(ARG1):c.825A>C (p.Ile275=)
|
rs781780752
|
|
|
NM_000045.4(ARG1):c.827T>C (p.Met276Thr)
|
|
|
|
NM_000045.4(ARG1):c.832G>C (p.Val278Leu)
|
|
|
|
NM_000045.4(ARG1):c.837C>T (p.Asn279=)
|
|
|
|
NM_000045.4(ARG1):c.839C>T (p.Pro280Leu)
|
|
|
|
NM_000045.4(ARG1):c.840A>C (p.Pro280=)
|
rs1585429947
|
|
|
NM_000045.4(ARG1):c.849G>A (p.Gly283=)
|
rs1774062925
|
|
|
NM_000045.4(ARG1):c.84T>C (p.Pro28=)
|
|
|
|
NM_000045.4(ARG1):c.852G>C (p.Lys284Asn)
|
rs1774063052
|
|
|
NM_000045.4(ARG1):c.858A>G (p.Pro286=)
|
rs2114551265
|
|
|
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del)
|
rs1399124034
|
|
|
NM_000045.4(ARG1):c.862G>A (p.Glu288Lys)
|
rs932875709
|
|
|
NM_000045.4(ARG1):c.876A>G (p.Thr292=)
|
|
|
|
NM_000045.4(ARG1):c.876A>T (p.Thr292=)
|
|
|
|
NM_000045.4(ARG1):c.877G>C (p.Val293Leu)
|
|
|
|
NM_000045.4(ARG1):c.877del (p.Thr292_Val293insTer)
|
|
|
|
NM_000045.4(ARG1):c.879G>C (p.Val293=)
|
|
|
|
NM_000045.4(ARG1):c.87A>C (p.Thr29=)
|
|
|
|
NM_000045.4(ARG1):c.87A>G (p.Thr29=)
|
rs1373647667
|
|
|
NM_000045.4(ARG1):c.884C>A (p.Thr295Lys)
|
|
|
|
NM_000045.4(ARG1):c.885A>G (p.Thr295=)
|
rs750083218
|
|
|
NM_000045.4(ARG1):c.885A>T (p.Thr295=)
|
rs750083218
|
|
|
NM_000045.4(ARG1):c.892G>A (p.Ala298Thr)
|
rs755359126
|
|
|
NM_000045.4(ARG1):c.896T>A (p.Ile299Lys)
|
rs781676090
|
|
|
NM_000045.4(ARG1):c.900C>G (p.Thr300=)
|
|
|
|
NM_000045.4(ARG1):c.901T>C (p.Leu301=)
|
rs748708936
|
|
|
NM_000045.4(ARG1):c.903G>A (p.Leu301=)
|
rs2114551538
|
|
|
NM_000045.4(ARG1):c.906T>G (p.Ala302=)
|
|
|
|
NM_000045.4(ARG1):c.915A>G (p.Gly305=)
|
|
|
|
NM_000045.4(ARG1):c.918T>C (p.Leu306=)
|
|
|
|
NM_000045.4(ARG1):c.920C>T (p.Ala307Val)
|
|
|
|
NM_000045.4(ARG1):c.924G>T (p.Arg308=)
|
|
|
|
NM_000045.4(ARG1):c.927G>A (p.Glu309=)
|
|
|
|
NM_000045.4(ARG1):c.929G>T (p.Gly310Val)
|
|
|
|
NM_000045.4(ARG1):c.92T>G (p.Leu31Trp)
|
|
|
|
NM_000045.4(ARG1):c.934C>T (p.His312Tyr)
|
|
|
|
NM_000045.4(ARG1):c.936C>A (p.His312Gln)
|
rs776119677
|
|
|
NM_000045.4(ARG1):c.936C>T (p.His312=)
|
rs776119677
|
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
|
NM_000045.4(ARG1):c.939G>C (p.Lys313Asn)
|
rs1774069461
|
|
|
NM_000045.4(ARG1):c.93G>A (p.Leu31=)
|
rs1773630165
|
|
|
NM_000045.4(ARG1):c.943A>G (p.Ile315Val)
|
rs2114551786
|
|
|
NM_000045.4(ARG1):c.945dup (p.Asp316Ter)
|
rs1420954130
|
|
|
NM_000045.4(ARG1):c.956A>G (p.Asn319Ser)
|
rs147409787
|
|
|
NM_000045.4(ARG1):c.957C>A (p.Asn319Lys)
|
|
|
|
NM_000045.4(ARG1):c.963T>C (p.Pro321=)
|
rs2114551913
|
|
|
NM_000045.4(ARG1):c.9C>G (p.Ala3=)
|
|
|
|
NM_000048.3(ASL):c.979delG
|
rs1584032751
|
|
|
NM_000048.4(ASL):c.1005G>C (p.Val335=)
|
rs2115746700
|
|
|
NM_000048.4(ASL):c.1008A>G (p.Ser336=)
|
rs2115746741
|
|
|
NM_000048.4(ASL):c.1040C>T (p.Thr347Ile)
|
|
|
|
NM_000048.4(ASL):c.1045_1057del (p.Val349fs)
|
rs796051933
|
|
|
NM_000048.4(ASL):c.1045_1062+7del
|
rs1329070853
|
|
|
NM_000048.4(ASL):c.1049T>C (p.Ile350Thr)
|
|
|
|
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)
|
|
|
|
NM_000048.4(ASL):c.1050C>T (p.Ile350=)
|
|
|
|
NM_000048.4(ASL):c.1056G>C (p.Thr352=)
|
rs745476328
|
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
|
NM_000048.4(ASL):c.1062+12C>T
|
|
|
|
NM_000048.4(ASL):c.1062+13C>A
|
|
|
|
NM_000048.4(ASL):c.1062+13C>T
|
|
|
|
NM_000048.4(ASL):c.1062+16C>A
|
|
|
|
NM_000048.4(ASL):c.1062+17C>G
|
|
|
|
NM_000048.4(ASL):c.1062+17del
|
rs750441507
|
|
|
NM_000048.4(ASL):c.1062+17dup
|
|
|
|
NM_000048.4(ASL):c.1062+7C>G
|
|
|
|
NM_000048.4(ASL):c.1062+7C>T
|
rs2115747359
|
|
|
NM_000048.4(ASL):c.1063-10G>A
|
|
|
|
NM_000048.4(ASL):c.1063-12C>T
|
|
|
|
NM_000048.4(ASL):c.1063-14A>T
|
|
|
|
NM_000048.4(ASL):c.1063-14_1063-5del
|
|
|
|
NM_000048.4(ASL):c.1063-15C>T
|
|
|
|
NM_000048.4(ASL):c.1063-19C>T
|
|
|
|
NM_000048.4(ASL):c.1063-3del
|
|
|
|
NM_000048.4(ASL):c.1065T>A (p.Ile355=)
|
|
|
|
NM_000048.4(ASL):c.1068C>T (p.His356=)
|
|
|
|
NM_000048.4(ASL):c.1077C>G (p.Asn359Lys)
|
rs372785881
|
|
|
NM_000048.4(ASL):c.1077C>T (p.Asn359=)
|
rs372785881
|
|
|
NM_000048.4(ASL):c.1078A>G (p.Met360Val)
|
rs2115760128
|
|
|
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)
|
rs875989948
|
|
|
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)
|
rs1786857910
|
|
|
NM_000048.4(ASL):c.1095C>T (p.Ser365=)
|
rs749559501
|
|
|
NM_000048.4(ASL):c.1098dup (p.Asp367fs)
|
|
|
|
NM_000048.4(ASL):c.111_133del (p.Asp38fs)
|
rs1554326267
|
|
|
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)
|
|
|
|
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu)
|
rs200853731
|
|
|
NM_000048.4(ASL):c.1143+16C>A
|
|
|
|
NM_000048.4(ASL):c.1143+18del
|
|
|
|
NM_000048.4(ASL):c.1143+1G>A
|
|
|
|
NM_000048.4(ASL):c.1143+20G>T
|
|
|
|
NM_000048.4(ASL):c.1143+6T>A
|
rs2115760756
|
|
|
NM_000048.4(ASL):c.1143+8T>G
|
|
|
|
NM_000048.4(ASL):c.1144-14T>A
|
|
|
|
NM_000048.4(ASL):c.1144-15C>T
|
|
|
|
NM_000048.4(ASL):c.1144-19C>T
|
|
|
|
NM_000048.4(ASL):c.1144-5C>T
|
rs1429849711
|
|
|
NM_000048.4(ASL):c.114T>C (p.Asp38=)
|
|
|
|
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)
|
|
|
|
NM_000048.4(ASL):c.115G>T (p.Val39Phe)
|
|
|
|
NM_000048.4(ASL):c.1167G>A (p.Glu389=)
|
|
|
|
NM_000048.4(ASL):c.1170C>G (p.Ala390=)
|
|
|
|
NM_000048.4(ASL):c.1170C>T (p.Ala390=)
|
rs747116101
|
|
|
NM_000048.4(ASL):c.1172_1173delinsAA (p.Ser391Ter)
|
rs1786880122
|
|
|
NM_000048.4(ASL):c.1174G>A (p.Gly392Arg)
|
|
|
|
NM_000048.4(ASL):c.1176G>C (p.Gly392=)
|
rs2115764470
|
|
|
NM_000048.4(ASL):c.1185G>C (p.Val395=)
|
|
|
|
NM_000048.4(ASL):c.1194C>A (p.Ala398=)
|
|
|
|
NM_000048.4(ASL):c.1194C>T (p.Ala398=)
|
rs149370610
|
|
|
NM_000048.4(ASL):c.1197G>A (p.Glu399=)
|
rs2115764700
|
|
|
NM_000048.4(ASL):c.12+11C>A
|
|
|
|
NM_000048.4(ASL):c.12+14C>T
|
|
|
|
NM_000048.4(ASL):c.12+15G>T
|
|
|
|
NM_000048.4(ASL):c.12+17G>A
|
|
|
|
NM_000048.4(ASL):c.12+20C>A
|
|
|
|
NM_000048.4(ASL):c.12+8G>A
|
|
|
|
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg)
|
rs727503812
|
|
|
NM_000048.4(ASL):c.1206G>A (p.Gly402=)
|
|
|
|
NM_000048.4(ASL):c.1209C>T (p.Val403=)
|
rs1179470187
|
|
|
NM_000048.4(ASL):c.120A>G (p.Gln40=)
|
rs1786514929
|
|
|
NM_000048.4(ASL):c.1215C>T (p.Leu405=)
|
|
|
|
NM_000048.4(ASL):c.1218C>G (p.Asn406Lys)
|
rs2115764896
|
|
|
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter)
|
rs2115764913
|
|
|
NM_000048.4(ASL):c.1221G>A (p.Gln407=)
|
|
|
|
NM_000048.4(ASL):c.1222C>T (p.Leu408=)
|
rs2115764958
|
|
|
NM_000048.4(ASL):c.1224G>A (p.Leu408=)
|
rs2115764992
|
|
|
NM_000048.4(ASL):c.1227A>G (p.Ser409=)
|
|
|
|
NM_000048.4(ASL):c.1228C>T (p.Leu410=)
|
|
|
|
NM_000048.4(ASL):c.122G>A (p.Gly41Asp)
|
rs1562737230
|
|
|
NM_000048.4(ASL):c.1230G>A (p.Leu410=)
|
|
|
|
NM_000048.4(ASL):c.1250+11del
|
|
|
|
NM_000048.4(ASL):c.1250+18C>T
|
|
|
|
NM_000048.4(ASL):c.1250+1G>A
|
|
|
|
NM_000048.4(ASL):c.1250+8C>T
|
|
|
|
NM_000048.4(ASL):c.1251-10C>G
|
rs2115766036
|
|
|
NM_000048.4(ASL):c.1251-10C>T
|
|
|
|
NM_000048.4(ASL):c.1251-18C>A
|
|
|
|
NM_000048.4(ASL):c.1251-4C>G
|
|
|
|
NM_000048.4(ASL):c.1251-8C>G
|
|
|
|
NM_000048.4(ASL):c.1251-8C>T
|
|
|
|
NM_000048.4(ASL):c.1254C>T (p.Pro418=)
|
rs2115766177
|
|
|
NM_000048.4(ASL):c.1255C>T (p.Leu419=)
|
|
|
|
NM_000048.4(ASL):c.1257G>A (p.Leu419=)
|
|
|
|
NM_000048.4(ASL):c.1266C>A (p.Gly422=)
|
rs538342522
|
|
|
NM_000048.4(ASL):c.1267G>C (p.Asp423His)
|
|
|
|
NM_000048.4(ASL):c.1279G>A (p.Val427Met)
|
|
|
|
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter)
|
rs780846396
|
|
|
NM_000048.4(ASL):c.1296C>T (p.His432=)
|
|
|
|
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)
|
rs1554328459
|
|
|
NM_000048.4(ASL):c.13-10T>C
|
rs2115689838
|
|
|
NM_000048.4(ASL):c.13-12T>A
|
|
|
|
NM_000048.4(ASL):c.13-14G>T
|
|
|
|
NM_000048.4(ASL):c.13-19T>C
|
|
|
|
NM_000048.4(ASL):c.13-2A>G
|
|
|
|
NM_000048.4(ASL):c.13-7T>C
|
|
|
|
NM_000048.4(ASL):c.13-8C>T
|
rs2115689858
|
|
|
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)
|
rs773071023
|
|
|
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)
|
rs932494060
|
|
|
NM_000048.4(ASL):c.1317C>T (p.Ala439=)
|
rs755170923
|
|
|
NM_000048.4(ASL):c.131C>G (p.Ala44Gly)
|
rs2115691157
|
|
|
NM_000048.4(ASL):c.1334G>A (p.Arg445His)
|
|
|
|
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter)
|
rs1786894242
|
|
|
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
|
|
|
|
NM_000048.4(ASL):c.1358G>T (p.Arg453Leu)
|
|
|
|
NM_000048.4(ASL):c.1366C>A (p.Arg456=)
|
|
|
|
NM_000048.4(ASL):c.1368G>A (p.Arg456=)
|
|
|
|
NM_000048.4(ASL):c.1371G>T (p.Ala457=)
|
|
|
|
NM_000048.4(ASL):c.1372C>T (p.Leu458=)
|
rs1175698932
|
|
|
NM_000048.4(ASL):c.1374A>G (p.Leu458=)
|
|
|
|
NM_000048.4(ASL):c.1377G>A (p.Leu459=)
|
rs2115767668
|
|
|
NM_000048.4(ASL):c.1382C>T (p.Ala461Val)
|
|
|
|
NM_000048.4(ASL):c.1386G>A (p.Gln462=)
|
rs1274669918
|
|
|
NM_000048.4(ASL):c.1395G>A (p.Ter465=)
|
rs1339615185
|
|
|
NM_000048.4(ASL):c.144C>T (p.Gly48=)
|
|
|
|
NM_000048.4(ASL):c.145C>A (p.Leu49Met)
|
|
|
|
NM_000048.4(ASL):c.159del (p.Leu54fs)
|
rs1786516110
|
|
|
NM_000048.4(ASL):c.165C>T (p.Leu55=)
|
|
|
|
NM_000048.4(ASL):c.174C>A (p.Ala58=)
|
|
|
|
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)
|
rs869312985
|
|
|
NM_000048.4(ASL):c.176A>T (p.Glu59Val)
|
|
|
|
NM_000048.4(ASL):c.18G>A (p.Gly6=)
|
|
|
|
NM_000048.4(ASL):c.204C>T (p.Asp68=)
|
rs2115691807
|
|
|
NM_000048.4(ASL):c.207+10G>C
|
|
|
|
NM_000048.4(ASL):c.207+18A>G
|
|
|
|
NM_000048.4(ASL):c.207+19G>C
|
|
|
|
NM_000048.4(ASL):c.207+8C>A
|
|
|
|
NM_000048.4(ASL):c.207+9C>A
|
|
|
|
NM_000048.4(ASL):c.207+9C>G
|
|
|
|
NM_000048.4(ASL):c.208-14G>T
|
|
|
|
NM_000048.4(ASL):c.208-19T>C
|
|
|
|
NM_000048.4(ASL):c.208-1G>A
|
|
|
|
NM_000048.4(ASL):c.208-5T>C
|
|
|
|
NM_000048.4(ASL):c.221G>A (p.Trp74Ter)
|
rs2115694416
|
|
|
NM_000048.4(ASL):c.225C>A (p.Ala75=)
|
|
|
|
NM_000048.4(ASL):c.229G>C (p.Gly77Arg)
|
|
|
|
NM_000048.4(ASL):c.231_243del (p.Phe79fs)
|
|
|
|
NM_000048.4(ASL):c.241C>T (p.Leu81=)
|
rs1297216151
|
|
|
NM_000048.4(ASL):c.252T>C (p.Asn84=)
|
|
|
|
NM_000048.4(ASL):c.255T>C (p.Asp85=)
|
rs2115694775
|
|
|
NM_000048.4(ASL):c.261C>T (p.Asp87=)
|
rs1215546982
|
|
|
NM_000048.4(ASL):c.267C>T (p.His89=)
|
|
|
|
NM_000048.4(ASL):c.276T>C (p.Asn92=)
|
rs780895668
|
|
|
NM_000048.4(ASL):c.280C>A (p.Arg94Ser)
|
|
|
|
NM_000048.4(ASL):c.280_281insTGAAG (p.Arg94fs)
|
|
|
|
NM_000048.4(ASL):c.282C>T (p.Arg94=)
|
rs2115695015
|
|
|
NM_000048.4(ASL):c.285C>T (p.Arg95=)
|
rs757105613
|
|
|
NM_000048.4(ASL):c.286C>T (p.Leu96=)
|
rs1042681659
|
|
|
NM_000048.4(ASL):c.287T>C (p.Leu96Pro)
|
rs1483600747
|
|
|
NM_000048.4(ASL):c.288G>C (p.Leu96=)
|
rs2115695181
|
|
|
NM_000048.4(ASL):c.291+17C>A
|
|
|
|
NM_000048.4(ASL):c.291+17C>G
|
|
|
|
NM_000048.4(ASL):c.291+1G>T
|
rs201523601
|
|
|
NM_000048.4(ASL):c.291+2T>C
|
|
|
|
NM_000048.4(ASL):c.291+3A>G
|
|
|
|
NM_000048.4(ASL):c.291+7C>A
|
rs371162956
|
|
|
NM_000048.4(ASL):c.291+8C>A
|
rs781492633
|
|
|
NM_000048.4(ASL):c.291G>A (p.Lys97=)
|
|
|
|
NM_000048.4(ASL):c.292-12C>T
|
|
|
|
NM_000048.4(ASL):c.292-12del
|
|
|
|
NM_000048.4(ASL):c.292-18G>A
|
|
|
|
NM_000048.4(ASL):c.292-7C>T
|
rs748643275
|
|
|
NM_000048.4(ASL):c.299T>A (p.Ile100Asn)
|
rs202142867
|
|
|
NM_000048.4(ASL):c.302G>A (p.Gly101Asp)
|
|
|
|
NM_000048.4(ASL):c.306A>C (p.Ala102=)
|
rs192537483
|
|
|
NM_000048.4(ASL):c.309G>C (p.Thr103=)
|
|
|
|
NM_000048.4(ASL):c.311C>T (p.Ala104Val)
|
|
|
|
NM_000048.4(ASL):c.324C>T (p.His108=)
|
|
|
|
NM_000048.4(ASL):c.333G>T (p.Arg111=)
|
rs2115698584
|
|
|
NM_000048.4(ASL):c.348+10C>T
|
rs779302505
|
|
|
NM_000048.4(ASL):c.348+12C>T
|
|
|
|
NM_000048.4(ASL):c.348+13dup
|
rs781287410
|
|
|
NM_000048.4(ASL):c.348+18C>G
|
|
|
|
NM_000048.4(ASL):c.348+19C>T
|
|
|
|
NM_000048.4(ASL):c.348+1G>A
|
|
|
|
NM_000048.4(ASL):c.348+1G>T
|
rs2115698756
|
|
|
NM_000048.4(ASL):c.348+20C>G
|
|
|
|
NM_000048.4(ASL):c.348+22del
|
|
|
|
NM_000048.4(ASL):c.348+8dup
|
|
|
|
NM_000048.4(ASL):c.348+9G>T
|
rs2115698826
|
|
|
NM_000048.4(ASL):c.349-13C>A
|
|
|
|
NM_000048.4(ASL):c.349-18C>T
|
|
|
|
NM_000048.4(ASL):c.349-5C>T
|
rs1400200414
|
|
|
NM_000048.4(ASL):c.349-6G>T
|
rs2115699934
|
|
|
NM_000048.4(ASL):c.349-9C>G
|
|
|
|
NM_000048.4(ASL):c.351G>C (p.Val117=)
|
|
|
|
NM_000048.4(ASL):c.367C>T (p.Leu123=)
|
rs2115700058
|
|
|
NM_000048.4(ASL):c.377G>C (p.Arg126Pro)
|
rs777235530
|
|
|
NM_000048.4(ASL):c.385T>A (p.Cys129Ser)
|
|
|
|
NM_000048.4(ASL):c.387C>A (p.Cys129Ter)
|
|
|
|
NM_000048.4(ASL):c.388T>C (p.Ser130Pro)
|
|
|
|
NM_000048.4(ASL):c.396C>T (p.Leu132=)
|
rs2115700372
|
|
|
NM_000048.4(ASL):c.398C>G (p.Ser133Trp)
|
|
|
|
NM_000048.4(ASL):c.398C>T (p.Ser133Leu)
|
|
|
|
NM_000048.4(ASL):c.399G>C (p.Ser133=)
|
rs141584041
|
|
|
NM_000048.4(ASL):c.400G>A (p.Gly134Ser)
|
rs2115700439
|
|
|
NM_000048.4(ASL):c.402C>A (p.Gly134=)
|
rs1308519514
|
|
|
NM_000048.4(ASL):c.404T>G (p.Leu135Arg)
|
rs1786559599
|
|
|
NM_000048.4(ASL):c.405C>T (p.Leu135=)
|
rs372653036
|
|
|
NM_000048.4(ASL):c.406del (p.Leu136fs)
|
|
|
|
NM_000048.4(ASL):c.408C>T (p.Leu136=)
|
|
|
|
NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)
|
|
|
|
NM_000048.4(ASL):c.426C>T (p.Thr142=)
|
|
|
|
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)
|
rs796051931
|
|
|
NM_000048.4(ASL):c.437G>C (p.Arg146Pro)
|
rs796051931
|
|
|
NM_000048.4(ASL):c.440C>A (p.Ala147Glu)
|
rs1786561465
|
|
|
NM_000048.4(ASL):c.446+14G>A
|
|
|
|
NM_000048.4(ASL):c.446+1G>C
|
|
|
|
NM_000048.4(ASL):c.446+3G>C
|
|
|
|
NM_000048.4(ASL):c.447-10T>C
|
|
|
|
NM_000048.4(ASL):c.447-18G>C
|
|
|
|
NM_000048.4(ASL):c.447-2A>G
|
|
|
|
NM_000048.4(ASL):c.447-9C>T
|
|
|
|
NM_000048.4(ASL):c.451_452dup (p.Asp152fs)
|
rs1786667696
|
|
|
NM_000048.4(ASL):c.452G>A (p.Arg151His)
|
|
|
|
NM_000048.4(ASL):c.454G>A (p.Asp152Asn)
|
rs780023054
|
|
|
NM_000048.4(ASL):c.45T>C (p.Gly15=)
|
rs2115690225
|
|
|
NM_000048.4(ASL):c.465C>T (p.Phe155=)
|
|
|
|
NM_000048.4(ASL):c.467C>A (p.Pro156Gln)
|
|
|
|
NM_000048.4(ASL):c.471G>A (p.Gly157=)
|
|
|
|
NM_000048.4(ASL):c.471G>T (p.Gly157=)
|
|
|
|
NM_000048.4(ASL):c.486G>A (p.Gln162=)
|
rs1786669549
|
|
|
NM_000048.4(ASL):c.48A>G (p.Ala16=)
|
|
|
|
NM_000048.4(ASL):c.490G>C (p.Ala164Pro)
|
|
|
|
NM_000048.4(ASL):c.492C>T (p.Ala164=)
|
|
|
|
NM_000048.4(ASL):c.503G>A (p.Arg168His)
|
rs727503811
|
|
|
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)
|
rs1180650883
|
|
|
NM_000048.4(ASL):c.51G>A (p.Val17=)
|
|
|
|
NM_000048.4(ASL):c.521T>C (p.Leu174Pro)
|
rs2115724599
|
|
|
NM_000048.4(ASL):c.524+10G>A
|
|
|
|
NM_000048.4(ASL):c.524+14G>A
|
rs1398644718
|
|
|
NM_000048.4(ASL):c.524+16T>C
|
|
|
|
NM_000048.4(ASL):c.524+17G>A
|
|
|
|
NM_000048.4(ASL):c.525-10C>T
|
|
|
|
NM_000048.4(ASL):c.525-11G>A
|
|
|
|
NM_000048.4(ASL):c.525-14C>T
|
|
|
|
NM_000048.4(ASL):c.525-16C>T
|
|
|
|
NM_000048.4(ASL):c.525-8T>C
|
|
|
|
NM_000048.4(ASL):c.530C>G (p.Ala177Gly)
|
rs2115725413
|
|
|
NM_000048.4(ASL):c.531C>A (p.Ala177=)
|
rs201974677
|
|
|
NM_000048.4(ASL):c.531C>T (p.Ala177=)
|
rs201974677
|
|
|
NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer)
|
rs796051932
|
|
|
NM_000048.4(ASL):c.540G>C (p.Leu180=)
|
rs1584027903
|
|
|
NM_000048.4(ASL):c.544C>G (p.Arg182Gly)
|
|
|
|
NM_000048.4(ASL):c.545G>C (p.Arg182Pro)
|
|
|
|
NM_000048.4(ASL):c.549C>T (p.Asp183=)
|
|
|
|
NM_000048.4(ASL):c.54C>T (p.Asp18=)
|
rs1309121791
|
|
|
NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)
|
rs1786675239
|
|
|
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)
|
rs111407265
|
|
|
NM_000048.4(ASL):c.562C>T (p.Leu188=)
|
|
|
|
NM_000048.4(ASL):c.564G>A (p.Leu188=)
|
|
|
|
NM_000048.4(ASL):c.564G>T (p.Leu188=)
|
|
|
|
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)
|
rs143508372
|
|
|
NM_000048.4(ASL):c.573G>C (p.Arg191=)
|
rs1470984058
|
|
|
NM_000048.4(ASL):c.577C>A (p.Arg193=)
|
|
|
|
NM_000048.4(ASL):c.579G>C (p.Arg193=)
|
rs2115725998
|
|
|
NM_000048.4(ASL):c.586G>A (p.Val196Ile)
|
|
|
|
NM_000048.4(ASL):c.589C>T (p.Leu197=)
|
rs2115726114
|
|
|
NM_000048.4(ASL):c.58del (p.Ile20fs)
|
|
|
|
NM_000048.4(ASL):c.594C>G (p.Pro198=)
|
rs760887143
|
|
|
NM_000048.4(ASL):c.597G>C (p.Leu199=)
|
rs1268487200
|
|
|
NM_000048.4(ASL):c.597G>T (p.Leu199=)
|
|
|
|
NM_000048.4(ASL):c.599G>T (p.Gly200Val)
|
rs2115726233
|
|
|
NM_000048.4(ASL):c.5C>A (p.Ala2Asp)
|
|
|
|
NM_000048.4(ASL):c.602+18G>A
|
|
|
|
NM_000048.4(ASL):c.602+18G>T
|
|
|
|
NM_000048.4(ASL):c.602+19C>T
|
|
|
|
NM_000048.4(ASL):c.602+22del
|
|
|
|
NM_000048.4(ASL):c.602+2T>C
|
|
|
|
NM_000048.4(ASL):c.603-10G>A
|
rs1179948747
|
|
|
NM_000048.4(ASL):c.603-12C>T
|
|
|
|
NM_000048.4(ASL):c.603-13C>T
|
|
|
|
NM_000048.4(ASL):c.603-14C>T
|
|
|
|
NM_000048.4(ASL):c.603-1G>C
|
rs1584028936
|
|
|
NM_000048.4(ASL):c.603-20A>T
|
rs376008291
|
|
|
NM_000048.4(ASL):c.603-2A>C
|
|
|
|
NM_000048.4(ASL):c.603-7C>G
|
|
|
|
NM_000048.4(ASL):c.603-8C>T
|
|
|
|
NM_000048.4(ASL):c.606G>T (p.Gly202=)
|
rs781714725
|
|
|
NM_000048.4(ASL):c.60C>T (p.Ile20=)
|
rs910643561
|
|
|
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)
|
|
|
|
NM_000048.4(ASL):c.612T>C (p.Ile204=)
|
rs2115730140
|
|
|
NM_000048.4(ASL):c.614C>T (p.Ala205Val)
|
rs796051925
|
|
|
NM_000048.4(ASL):c.616G>A (p.Gly206Ser)
|
|
|
|
NM_000048.4(ASL):c.617G>A (p.Gly206Asp)
|
|
|
|
NM_000048.4(ASL):c.627G>A (p.Leu209=)
|
|
|
|
NM_000048.4(ASL):c.631_647del (p.Val211fs)
|
rs1554327181
|
|
|
NM_000048.4(ASL):c.638G>C (p.Arg213Pro)
|
|
|
|
NM_000048.4(ASL):c.639A>G (p.Arg213=)
|
|
|
|
NM_000048.4(ASL):c.651A>G (p.Arg217=)
|
|
|
|
NM_000048.4(ASL):c.655+10C>G
|
rs756614378
|
|
|
NM_000048.4(ASL):c.655+16C>T
|
|
|
|
NM_000048.4(ASL):c.655+20C>T
|
|
|
|
NM_000048.4(ASL):c.655+5G>A
|
|
|
|
NM_000048.4(ASL):c.655+8G>T
|
rs200203985
|
|
|
NM_000048.4(ASL):c.656-10_656-7del
|
|
|
|
NM_000048.4(ASL):c.656-10del
|
rs2115732818
|
|
|
NM_000048.4(ASL):c.656-12C>T
|
|
|
|
NM_000048.4(ASL):c.656-13C>T
|
|
|
|
NM_000048.4(ASL):c.656-1G>A
|
|
|
|
NM_000048.4(ASL):c.656-2A>C
|
|
|
|
NM_000048.4(ASL):c.656-3dup
|
rs778811159
|
|
|
NM_000048.4(ASL):c.656-4C>G
|
rs571362354
|
|
|
NM_000048.4(ASL):c.656-4C>T
|
rs571362354
|
|
|
NM_000048.4(ASL):c.656-5C>A
|
rs201814807
|
|
|
NM_000048.4(ASL):c.656-5C>G
|
|
|
|
NM_000048.4(ASL):c.656-5C>T
|
rs201814807
|
|
|
NM_000048.4(ASL):c.656-6C>A
|
|
|
|
NM_000048.4(ASL):c.656-6C>T
|
|
|
|
NM_000048.4(ASL):c.656-7C>T
|
|
|
|
NM_000048.4(ASL):c.656-9C>A
|
|
|
|
NM_000048.4(ASL):c.656-9C>T
|
|
|
|
NM_000048.4(ASL):c.66G>A (p.Glu22=)
|
|
|
|
NM_000048.4(ASL):c.671C>T (p.Ala224Val)
|
rs2115733053
|
|
|
NM_000048.4(ASL):c.674T>C (p.Ile225Thr)
|
|
|
|
NM_000048.4(ASL):c.675C>G (p.Ile225Met)
|
rs1554327265
|
|
|
NM_000048.4(ASL):c.681C>T (p.Leu227=)
|
|
|
|
NM_000048.4(ASL):c.687C>T (p.Ser229=)
|
|
|
|
NM_000048.4(ASL):c.689T>C (p.Met230Thr)
|
|
|
|
NM_000048.4(ASL):c.690G>A (p.Met230Ile)
|
rs2115733193
|
|
|
NM_000048.4(ASL):c.691G>C (p.Asp231His)
|
|
|
|
NM_000048.4(ASL):c.697A>T (p.Thr233Ser)
|
|
|
|
NM_000048.4(ASL):c.698C>G (p.Thr233Ser)
|
rs1229119110
|
|
|
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)
|
rs761268464
|
|
|
NM_000048.4(ASL):c.711C>G (p.Asp237Glu)
|
|
|
|
NM_000048.4(ASL):c.711C>T (p.Asp237=)
|
|
|
|
NM_000048.4(ASL):c.717G>A (p.Val239=)
|
|
|
|
NM_000048.4(ASL):c.718+10G>C
|
|
|
|
NM_000048.4(ASL):c.718+15G>A
|
|
|
|
NM_000048.4(ASL):c.718+15G>C
|
|
|
|
NM_000048.4(ASL):c.718+1G>A
|
|
|
|
NM_000048.4(ASL):c.718+20T>C
|
|
|
|
NM_000048.4(ASL):c.718+5G>A
|
rs869312990
|
|
|
NM_000048.4(ASL):c.718+7C>T
|
|
|
|
NM_000048.4(ASL):c.718+8C>T
|
rs1445565689
|
|
|
NM_000048.4(ASL):c.719-13C>A
|
|
|
|
NM_000048.4(ASL):c.719-13C>T
|
|
|
|
NM_000048.4(ASL):c.719-19T>C
|
|
|
|
NM_000048.4(ASL):c.719-1G>C
|
rs369828060
|
|
|
NM_000048.4(ASL):c.719-5C>T
|
|
|
|
NM_000048.4(ASL):c.720C>G (p.Ala240=)
|
rs764072757
|
|
|
NM_000048.4(ASL):c.723G>A (p.Glu241=)
|
|
|
|
NM_000048.4(ASL):c.723G>C (p.Glu241Asp)
|
|
|
|
NM_000048.4(ASL):c.729G>A (p.Leu243=)
|
rs1584031066
|
|
|
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)
|
rs1554327573
|
|
|
NM_000048.4(ASL):c.736G>A (p.Ala246Thr)
|
|
|
|
NM_000048.4(ASL):c.741G>A (p.Ser247=)
|
rs371927473
|
|
|
NM_000048.4(ASL):c.741G>C (p.Ser247=)
|
rs371927473
|
|
|
NM_000048.4(ASL):c.741G>T (p.Ser247=)
|
rs371927473
|
|
|
NM_000048.4(ASL):c.746G>T (p.Cys249Phe)
|
rs2115739143
|
|
|
NM_000048.4(ASL):c.765dup (p.Met256fs)
|
rs1562742141
|
|
|
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
|
|
|
|
NM_000048.4(ASL):c.771C>A (p.Ala257=)
|
rs375586912
|
|
|
NM_000048.4(ASL):c.786C>G (p.Leu262=)
|
|
|
|
NM_000048.4(ASL):c.78G>A (p.Ala26=)
|
rs115069006
|
|
|
NM_000048.4(ASL):c.78G>C (p.Ala26=)
|
rs115069006
|
|
|
NM_000048.4(ASL):c.78G>T (p.Ala26=)
|
rs115069006
|
|
|
NM_000048.4(ASL):c.810C>T (p.Phe270=)
|
|
|
|
NM_000048.4(ASL):c.811G>T (p.Val271Leu)
|
|
|
|
NM_000048.4(ASL):c.813G>A (p.Val271=)
|
|
|
|
NM_000048.4(ASL):c.81C>T (p.Ser27=)
|
rs2115690655
|
|
|
NM_000048.4(ASL):c.822A>G (p.Ser274=)
|
|
|
|
NM_000048.4(ASL):c.831C>T (p.Tyr277=)
|
rs2115739815
|
|
|
NM_000048.4(ASL):c.833+19C>T
|
|
|
|
NM_000048.4(ASL):c.833+7C>T
|
rs2115739894
|
|
|
NM_000048.4(ASL):c.834-12C>T
|
|
|
|
NM_000048.4(ASL):c.834-13C>T
|
|
|
|
NM_000048.4(ASL):c.834-1G>A
|
|
|
|
NM_000048.4(ASL):c.834-20G>T
|
|
|
|
NM_000048.4(ASL):c.834-5C>A
|
|
|
|
NM_000048.4(ASL):c.834-5C>T
|
rs373749562
|
|
|
NM_000048.4(ASL):c.834-6C>T
|
|
|
|
NM_000048.4(ASL):c.834-9T>C
|
|
|
|
NM_000048.4(ASL):c.837G>A (p.Thr279=)
|
|
|
|
NM_000048.4(ASL):c.837G>C (p.Thr279=)
|
rs543255240
|
|
|
NM_000048.4(ASL):c.837G>T (p.Thr279=)
|
|
|
|
NM_000048.4(ASL):c.843C>T (p.Ser281=)
|
rs2115741445
|
|
|
NM_000048.4(ASL):c.849G>A (p.Leu283=)
|
|
|
|
NM_000048.4(ASL):c.855C>G (p.Pro285=)
|
rs760378137
|
|
|
NM_000048.4(ASL):c.857A>C (p.Gln286Pro)
|
|
|
|
NM_000048.4(ASL):c.870C>T (p.Pro290=)
|
rs764804216
|
|
|
NM_000048.4(ASL):c.871G>A (p.Asp291Asn)
|
|
|
|
NM_000048.4(ASL):c.888C>T (p.Ile296=)
|
|
|
|
NM_000048.4(ASL):c.891G>T (p.Arg297=)
|
rs1377192458
|
|
|
NM_000048.4(ASL):c.903G>A (p.Gly301=)
|
rs2115741935
|
|
|
NM_000048.4(ASL):c.907G>A (p.Val303Met)
|
|
|
|
NM_000048.4(ASL):c.909G>A (p.Val303=)
|
|
|
|
NM_000048.4(ASL):c.916C>A (p.Arg306=)
|
|
|
|
NM_000048.4(ASL):c.918+10G>A
|
|
|
|
NM_000048.4(ASL):c.918+11_918+14dup
|
rs2115742201
|
|
|
NM_000048.4(ASL):c.918+12A>G
|
rs2115742216
|
|
|
NM_000048.4(ASL):c.918+12del
|
|
|
|
NM_000048.4(ASL):c.918+17dup
|
|
|
|
NM_000048.4(ASL):c.918+18A>G
|
|
|
|
NM_000048.4(ASL):c.918+19G>A
|
|
|
|
NM_000048.4(ASL):c.918+8A>G
|
|
|
|
NM_000048.4(ASL):c.918_919-31del
|
rs2115742136
|
|
|
NM_000048.4(ASL):c.919-10_919-9del
|
|
|
|
NM_000048.4(ASL):c.919-12C>T
|
|
|
|
NM_000048.4(ASL):c.919-16C>A
|
|
|
|
NM_000048.4(ASL):c.919-1G>A
|
rs1786770612
|
|
|
NM_000048.4(ASL):c.919-20G>A
|
|
|
|
NM_000048.4(ASL):c.919-4G>T
|
rs756230523
|
|
|
NM_000048.4(ASL):c.919-5C>T
|
rs746354859
|
|
|
NM_000048.4(ASL):c.919-7C>T
|
|
|
|
NM_000048.4(ASL):c.927G>A (p.Gly309=)
|
|
|
|
NM_000048.4(ASL):c.927G>C (p.Gly309=)
|
rs151294789
|
|
|
NM_000048.4(ASL):c.928C>T (p.Leu310Phe)
|
rs1168345442
|
|
|
NM_000048.4(ASL):c.930C>T (p.Leu310=)
|
|
|
|
NM_000048.4(ASL):c.932T>C (p.Leu311Pro)
|
|
|
|
NM_000048.4(ASL):c.94C>T (p.Arg32Trp)
|
|
|
|
NM_000048.4(ASL):c.94_100del (p.Arg32fs)
|
rs1554326263
|
|
|
NM_000048.4(ASL):c.951T>A (p.Leu317=)
|
rs765914227
|
|
|
NM_000048.4(ASL):c.960C>A (p.Thr320=)
|
rs2115743513
|
|
|
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)
|
|
|
|
NM_000048.4(ASL):c.963C>T (p.Tyr321=)
|
|
|
|
NM_000048.4(ASL):c.96G>C (p.Arg32=)
|
rs2115690889
|
|
|
NM_000048.4(ASL):c.973_976del (p.Leu325fs)
|
rs763407938
|
|
|
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)
|
|
|
|
NM_000048.4(ASL):c.976C>T (p.Gln326Ter)
|
|
|
|
NM_000048.4(ASL):c.978+10C>G
|
rs535237668
|
|
|
NM_000048.4(ASL):c.978+10C>T
|
rs535237668
|
|
|
NM_000048.4(ASL):c.978+11G>A
|
|
|
|
NM_000048.4(ASL):c.978+12G>A
|
|
|
|
NM_000048.4(ASL):c.978+15G>A
|
|
|
|
NM_000048.4(ASL):c.978+15del
|
rs535066653
|
|
|
NM_000048.4(ASL):c.978+15dup
|
rs535066653
|
|
|
NM_000048.4(ASL):c.978+17G>A
|
rs548786563
|
|
|
NM_000048.4(ASL):c.978+17G>T
|
|
|
|
NM_000048.4(ASL):c.978+5G>A
|
|
|
|
NM_000048.4(ASL):c.979-11G>T
|
|
|
|
NM_000048.4(ASL):c.979-12T>C
|
|
|
|
NM_000048.4(ASL):c.979-13A>G
|
|
|
|
NM_000048.4(ASL):c.979-15C>T
|
|
|
|
NM_000048.4(ASL):c.979-16G>A
|
|
|
|
NM_000048.4(ASL):c.979-18C>G
|
|
|
|
NM_000048.4(ASL):c.979-3C>T
|
|
|
|
NM_000048.4(ASL):c.979-6T>C
|
rs1584032729
|
|
|
NM_000048.4(ASL):c.979-9G>A
|
rs2115746380
|
|
|
NM_000048.4(ASL):c.984C>T (p.Asp328=)
|
rs2115746525
|
|
|
NM_000048.4(ASL):c.990A>G (p.Glu330=)
|
|
|
|
NM_000048.4(ASL):c.996G>A (p.Val332=)
|
|
|
|
NM_000048.4(ASL):c.99C>A (p.His33Gln)
|
|
|
|
NM_000048.4(ASL):c.99C>G (p.His33Gln)
|
rs142077823
|
|
|
NM_000048.4(ASL):c.99C>T (p.His33=)
|
rs142077823
|
|
|
NM_000050.4(ASS1):c.366delG
|
rs1057516544
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
|
NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT
|
|
|
|
NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)
|
rs1064793703
|
|
|
NM_000071.3(CBS):c.1006C>A (p.Arg336Ser)
|
|
|
|
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)
|
rs760417941
|
|
|
NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)
|
|
|
|
NM_000071.3(CBS):c.1008C>A (p.Arg336=)
|
|
|
|
NM_000071.3(CBS):c.1008C>T (p.Arg336=)
|
|
|
|
NM_000071.3(CBS):c.1013T>C (p.Leu338Pro)
|
|
|
|
NM_000071.3(CBS):c.1014G>A (p.Leu338=)
|
rs761405806
|
|
|
NM_000071.3(CBS):c.1017C>T (p.Ile339=)
|
rs773933333
|
|
|
NM_000071.3(CBS):c.1020G>T (p.Ala340=)
|
|
|
|
NM_000071.3(CBS):c.102G>A (p.Glu34=)
|
|
|
|
NM_000071.3(CBS):c.1035G>A (p.Leu345=)
|
rs746340769
|
|
|
NM_000071.3(CBS):c.1039+10T>C
|
rs1343344368
|
|
|
NM_000071.3(CBS):c.1039+13C>A
|
|
|
|
NM_000071.3(CBS):c.1039+13C>T
|
|
|
|
NM_000071.3(CBS):c.1039+14G>A
|
|
|
|
NM_000071.3(CBS):c.1039+19C>A
|
|
|
|
NM_000071.3(CBS):c.1039+19C>G
|
|
|
|
NM_000071.3(CBS):c.1039+20G>T
|
|
|
|
NM_000071.3(CBS):c.1039+5G>C
|
rs777956934
|
|
|
NM_000071.3(CBS):c.1039+6T>G
|
rs1601349690
|
|
|
NM_000071.3(CBS):c.1039+7G>A
|
|
|
|
NM_000071.3(CBS):c.1039+7G>C
|
rs2146362915
|
|
|
NM_000071.3(CBS):c.1039+9G>A
|
|
|
|
NM_000071.3(CBS):c.103G>A (p.Asp35Asn)
|
|
|
|
NM_000071.3(CBS):c.103G>T (p.Asp35Tyr)
|
|
|
|
NM_000071.3(CBS):c.1040-10C>T
|
rs1601344657
|
|
|
NM_000071.3(CBS):c.1040-10CT[2]
|
|
|
|
NM_000071.3(CBS):c.1040-13G>A
|
|
|
|
NM_000071.3(CBS):c.1040-15_1040-13del
|
|
|
|
NM_000071.3(CBS):c.1040-17C>T
|
|
|
|
NM_000071.3(CBS):c.1040G>C (p.Gly347Ala)
|
|
|
|
NM_000071.3(CBS):c.1041T>C (p.Gly347=)
|
rs573954005
|
|
|
NM_000071.3(CBS):c.1045A>G (p.Ser349Gly)
|
|
|
|
NM_000071.3(CBS):c.1047T>G (p.Ser349Arg)
|
|
|
|
NM_000071.3(CBS):c.1056C>G (p.Ser352Arg)
|
|
|
|
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)
|
rs772384826
|
|
|
NM_000071.3(CBS):c.1065G>C (p.Ala355=)
|
rs748552493
|
|
|
NM_000071.3(CBS):c.106A>G (p.Lys36Glu)
|
rs904453895
|
|
|
NM_000071.3(CBS):c.1071C>G (p.Ala357=)
|
rs368206976
|
|
|
NM_000071.3(CBS):c.1071C>T (p.Ala357=)
|
rs368206976
|
|
|
NM_000071.3(CBS):c.1074G>C (p.Val358=)
|
rs570135008
|
|
|
NM_000071.3(CBS):c.1076A>T (p.Lys359Met)
|
rs779940364
|
|
|
NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)
|
rs1555873407
|
|
|
NM_000071.3(CBS):c.1082C>T (p.Ala361Val)
|
rs370851632
|
|
|
NM_000071.3(CBS):c.1087del (p.Glu363fs)
|
rs1064794540
|
|
|
NM_000071.3(CBS):c.1089G>A (p.Glu363=)
|
rs1601343953
|
|
|
NM_000071.3(CBS):c.1090C>T (p.Leu364=)
|
|
|
|
NM_000071.3(CBS):c.1090_1098dup (p.Leu364_Glu366dup)
|
rs2146352325
|
|
|
NM_000071.3(CBS):c.1098G>A (p.Glu366=)
|
rs1601343873
|
|
|
NM_000071.3(CBS):c.1108T>C (p.Cys370Arg)
|
|
|
|
NM_000071.3(CBS):c.1111G>C (p.Val371Leu)
|
|
|
|
NM_000071.3(CBS):c.1113G>A (p.Val371=)
|
|
|
|
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)
|
rs775354680
|
|
|
NM_000071.3(CBS):c.1116C>G (p.Val372=)
|
|
|
|
NM_000071.3(CBS):c.1125C>G (p.Pro375=)
|
rs146180894
|
|
|
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)
|
rs1170128038
|
|
|
NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)
|
|
|
|
NM_000071.3(CBS):c.1141T>C (p.Tyr381His)
|
rs267606145
|
|
|
NM_000071.3(CBS):c.1145+10G>C
|
|
|
|
NM_000071.3(CBS):c.1145+12C>T
|
|
|
|
NM_000071.3(CBS):c.1145+16C>T
|
|
|
|
NM_000071.3(CBS):c.1145+17C>G
|
|
|
|
NM_000071.3(CBS):c.1145+17C>T
|
|
|
|
NM_000071.3(CBS):c.1145+19C>T
|
|
|
|
NM_000071.3(CBS):c.1145+1G>A
|
|
|
|
NM_000071.3(CBS):c.1145+1G>C
|
|
|
|
NM_000071.3(CBS):c.1145+8dup
|
|
|
|
NM_000071.3(CBS):c.1145+9C>A
|
|
|
|
NM_000071.3(CBS):c.1146-10C>G
|
rs1379534542
|
|
|
NM_000071.3(CBS):c.1146-10C>T
|
|
|
|
NM_000071.3(CBS):c.1146-11C>T
|
|
|
|
NM_000071.3(CBS):c.1146-13C>T
|
|
|
|
NM_000071.3(CBS):c.1146-19T>G
|
|
|
|
NM_000071.3(CBS):c.1146-20G>A
|
rs1057522600
|
|
|
NM_000071.3(CBS):c.1146-3C>T
|
rs2146344469
|
|
|
NM_000071.3(CBS):c.1146-4G>C
|
|
|
|
NM_000071.3(CBS):c.1146-4G>T
|
|
|
|
NM_000071.3(CBS):c.1146-6C>T
|
rs1981696579
|
|
|
NM_000071.3(CBS):c.1148C>T (p.Thr383Ile)
|
rs1568924550
|
|
|
NM_000071.3(CBS):c.1149C>T (p.Thr383=)
|
rs2146344423
|
|
|
NM_000071.3(CBS):c.114C>G (p.Ala38=)
|
rs2146428122
|
|
|
NM_000071.3(CBS):c.1150A>G (p.Lys384Glu)
|
rs121964967
|
|
|
NM_000071.3(CBS):c.1162G>A (p.Asp388Asn)
|
|
|
|
NM_000071.3(CBS):c.1164C>T (p.Asp388=)
|
rs2146344263
|
|
|
NM_000071.3(CBS):c.1165A>C (p.Arg389=)
|
rs1601339535
|
|
|
NM_000071.3(CBS):c.1169G>A (p.Trp390Ter)
|
rs2146344203
|
|
|
NM_000071.3(CBS):c.1174C>T (p.Leu392=)
|
|
|
|
NM_000071.3(CBS):c.1179G>T (p.Gln393His)
|
rs2146344173
|
|
|
NM_000071.3(CBS):c.117G>A (p.Lys39=)
|
rs2146428109
|
|
|
NM_000071.3(CBS):c.1182G>A (p.Lys394=)
|
|
|
|
NM_000071.3(CBS):c.1188T>C (p.Phe396=)
|
|
|
|
NM_000071.3(CBS):c.118del (p.Glu40fs)
|
|
|
|
NM_000071.3(CBS):c.1191G>T (p.Leu397=)
|
|
|
|
NM_000071.3(CBS):c.1192A>G (p.Lys398Glu)
|
|
|
|
NM_000071.3(CBS):c.1200G>A (p.Glu400=)
|
|
|
|
NM_000071.3(CBS):c.1208C>A (p.Thr403Lys)
|
rs886042297
|
|
|
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)
|
rs886042297
|
|
|
NM_000071.3(CBS):c.1210_1212del (p.Glu404del)
|
rs1555872822
|
|
|
NM_000071.3(CBS):c.1212G>C (p.Glu404Asp)
|
|
|
|
NM_000071.3(CBS):c.1213A>C (p.Lys405Gln)
|
rs570121873
|
|
|
NM_000071.3(CBS):c.1218del (p.Lys406fs)
|
rs794727083
|
|
|
NM_000071.3(CBS):c.1221C>G (p.Pro407=)
|
|
|
|
NM_000071.3(CBS):c.1221del (p.Trp408fs)
|
rs1361324844
|
|
|
NM_000071.3(CBS):c.1223+10C>T
|
|
|
|
NM_000071.3(CBS):c.1223+123_1224-87del
|
rs1416544817
|
|
|
NM_000071.3(CBS):c.1223+13G>T
|
|
|
|
NM_000071.3(CBS):c.1223+16C>T
|
|
|
|
NM_000071.3(CBS):c.1223+17G>A
|
|
|
|
NM_000071.3(CBS):c.1223+19A>G
|
rs2146343442
|
|
|
NM_000071.3(CBS):c.1223+1G>T
|
rs1601339216
|
|
|
NM_000071.3(CBS):c.1223+7C>T
|
rs2146343623
|
|
|
NM_000071.3(CBS):c.1223+8C>A
|
rs747888658
|
|
|
NM_000071.3(CBS):c.1223+8C>T
|
rs747888658
|
|
|
NM_000071.3(CBS):c.1223+9G>A
|
rs1000757478
|
|
|
NM_000071.3(CBS):c.1224-12C>T
|
rs779601404
|
|
|
NM_000071.3(CBS):c.1224-13C>T
|
|
|
|
NM_000071.3(CBS):c.1224-14C>G
|
|
|
|
NM_000071.3(CBS):c.1224-20G>A
|
|
|
|
NM_000071.3(CBS):c.1224-20G>T
|
|
|
|
NM_000071.3(CBS):c.1224-7C>T
|
|
|
|
NM_000071.3(CBS):c.1226G>A (p.Trp409Ter)
|
rs376916741
|
|
|
NM_000071.3(CBS):c.1227G>A (p.Trp409Ter)
|
rs1332950288
|
|
|
NM_000071.3(CBS):c.1233C>T (p.His411=)
|
rs2146342075
|
|
|
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)
|
rs767595472
|
|
|
NM_000071.3(CBS):c.1238G>A (p.Arg413His)
|
|
|
|
NM_000071.3(CBS):c.1239T>A (p.Arg413=)
|
|
|
|
NM_000071.3(CBS):c.1239T>C (p.Arg413=)
|
rs2146341997
|
|
|
NM_000071.3(CBS):c.1245G>A (p.Gln415=)
|
|
|
|
NM_000071.3(CBS):c.1251G>C (p.Leu417=)
|
|
|
|
NM_000071.3(CBS):c.1252G>A (p.Gly418Ser)
|
rs1200734227
|
|
|
NM_000071.3(CBS):c.1257G>C (p.Leu419=)
|
rs138432416
|
|
|
NM_000071.3(CBS):c.1260A>C (p.Ser420=)
|
rs1060503997
|
|
|
NM_000071.3(CBS):c.1260A>G (p.Ser420=)
|
rs1060503997
|
|
|
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)
|
rs28934892
|
|
|
NM_000071.3(CBS):c.126G>A (p.Leu42=)
|
|
|
|
NM_000071.3(CBS):c.1272C>G (p.Thr424=)
|
rs141717913
|
|
|
NM_000071.3(CBS):c.1273G>C (p.Val425Leu)
|
|
|
|
NM_000071.3(CBS):c.1290C>T (p.Thr430=)
|
rs746564702
|
|
|
NM_000071.3(CBS):c.1296G>T (p.Gly432=)
|
|
|
|
NM_000071.3(CBS):c.1305C>A (p.Ile435=)
|
rs769351162
|
|
|
NM_000071.3(CBS):c.1305C>T (p.Ile435=)
|
rs769351162
|
|
|
NM_000071.3(CBS):c.1311C>T (p.Ile437=)
|
|
|
|
NM_000071.3(CBS):c.1320G>A (p.Glu440=)
|
rs2146340988
|
|
|
NM_000071.3(CBS):c.1323G>A (p.Lys441=)
|
rs2146340959
|
|
|
NM_000071.3(CBS):c.132C>T (p.Ile44=)
|
|
|
|
NM_000071.3(CBS):c.1338G>T (p.Ala446=)
|
rs373962057
|
|
|
NM_000071.3(CBS):c.1341C>G (p.Pro447=)
|
|
|
|
NM_000071.3(CBS):c.1344G>A (p.Val448=)
|
|
|
|
NM_000071.3(CBS):c.1355C>T (p.Ala452Val)
|
|
|
|
NM_000071.3(CBS):c.1356G>C (p.Ala452=)
|
|
|
|
NM_000071.3(CBS):c.1356G>T (p.Ala452=)
|
rs776322450
|
|
|
NM_000071.3(CBS):c.1358+15C>A
|
rs186497436
|
|
|
NM_000071.3(CBS):c.1358+15C>G
|
rs186497436
|
|
|
NM_000071.3(CBS):c.1358+1G>A
|
rs786204679
|
|
|
NM_000071.3(CBS):c.1358+7C>G
|
rs1341743668
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
|
NM_000071.3(CBS):c.1359-10del
|
|
|
|
NM_000071.3(CBS):c.1359-13C>T
|
|
|
|
NM_000071.3(CBS):c.1359-1G>C
|
rs865990681
|
|
|
NM_000071.3(CBS):c.1359-8T>C
|
rs566872403
|
|
|
NM_000071.3(CBS):c.1359-9G>C
|
|
|
|
NM_000071.3(CBS):c.1359G>C (p.Gly453=)
|
rs1307473439
|
|
|
NM_000071.3(CBS):c.135G>T (p.Arg45=)
|
rs2146427946
|
|
|
NM_000071.3(CBS):c.1361T>A (p.Val454Glu)
|
|
|
|
NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)
|
rs1981524462
|
|
|
NM_000071.3(CBS):c.1368G>A (p.Leu456=)
|
rs199941488
|
|
|
NM_000071.3(CBS):c.1373T>C (p.Met458Thr)
|
|
|
|
NM_000071.3(CBS):c.1377G>C (p.Val459=)
|
|
|
|
NM_000071.3(CBS):c.1380G>T (p.Thr460=)
|
rs765134080
|
|
|
NM_000071.3(CBS):c.1381C>T (p.Leu461Phe)
|
|
|
|
NM_000071.3(CBS):c.1382T>G (p.Leu461Arg)
|
|
|
|
NM_000071.3(CBS):c.138C>G (p.Pro46=)
|
|
|
|
NM_000071.3(CBS):c.138C>T (p.Pro46=)
|
rs532584017
|
|
|
NM_000071.3(CBS):c.1395C>G (p.Leu465=)
|
rs1601335326
|
|
|
NM_000071.3(CBS):c.1395C>T (p.Leu465=)
|
rs1601335326
|
|
|
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)
|
rs121964971
|
|
|
NM_000071.3(CBS):c.139G>A (p.Asp47Asn)
|
|
|
|
NM_000071.3(CBS):c.13A>G (p.Thr5Ala)
|
rs2146429088
|
|
|
NM_000071.3(CBS):c.140A>C (p.Asp47Ala)
|
rs2146427913
|
|
|
NM_000071.3(CBS):c.1413G>A (p.Gly471=)
|
rs777859460
|
|
|
NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)
|
|
|
|
NM_000071.3(CBS):c.1448T>C (p.Ile483Thr)
|
|
|
|
NM_000071.3(CBS):c.1451A>G (p.Tyr484Cys)
|
rs1555871913
|
|
|
NM_000071.3(CBS):c.1451A>T (p.Tyr484Phe)
|
rs1555871913
|
|
|
NM_000071.3(CBS):c.1457A>G (p.Gln486Arg)
|
rs2146337741
|
|
|
NM_000071.3(CBS):c.1467+11A>G
|
|
|
|
NM_000071.3(CBS):c.1467+11dup
|
|
|
|
NM_000071.3(CBS):c.1467+12C>A
|
|
|
|
NM_000071.3(CBS):c.1467+13C>G
|
|
|
|
NM_000071.3(CBS):c.1467+16C>T
|
|
|
|
NM_000071.3(CBS):c.1467+18_1467+79del
|
|
|
|
NM_000071.3(CBS):c.1467+19G>A
|
|
|
|
NM_000071.3(CBS):c.1467+1G>A
|
rs111687029
|
|
|
NM_000071.3(CBS):c.1467+4C>T
|
rs1981503515
|
|
|
NM_000071.3(CBS):c.1467G>A (p.Gln489=)
|
|
|
|
NM_000071.3(CBS):c.1468-13G>A
|
|
|
|
NM_000071.3(CBS):c.1468-14C>T
|
|
|
|
NM_000071.3(CBS):c.1468-17C>T
|
|
|
|
NM_000071.3(CBS):c.1468-1G>A
|
rs1057516895
|
|
|
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
|
|
|
|
NM_000071.3(CBS):c.1479G>T (p.Thr493=)
|
rs143225442
|
|
|
NM_000071.3(CBS):c.1486C>T (p.Leu496=)
|
|
|
|
NM_000071.3(CBS):c.1488G>A (p.Leu496=)
|
|
|
|
NM_000071.3(CBS):c.1498_1499del (p.Ser500fs)
|
rs1555871188
|
|
|
NM_000071.3(CBS):c.14C>A (p.Thr5Asn)
|
|
|
|
NM_000071.3(CBS):c.1500G>A (p.Ser500=)
|
rs1057522901
|
|
|
NM_000071.3(CBS):c.1500G>C (p.Ser500=)
|
rs1057522901
|
|
|
NM_000071.3(CBS):c.1507C>G (p.Leu503Val)
|
|
|
|
NM_000071.3(CBS):c.1507C>T (p.Leu503=)
|
|
|
|
NM_000071.3(CBS):c.1514T>G (p.Met505Arg)
|
rs1981234989
|
|
|
NM_000071.3(CBS):c.1527C>T (p.Ala509=)
|
rs794727162
|
|
|
NM_000071.3(CBS):c.1530G>T (p.Leu510=)
|
rs2146328130
|
|
|
NM_000071.3(CBS):c.1536G>T (p.Val512=)
|
|
|
|
NM_000071.3(CBS):c.1538A>G (p.His513Arg)
|
|
|
|
NM_000071.3(CBS):c.153G>A (p.Arg51=)
|
rs748795053
|
|
|
NM_000071.3(CBS):c.153_165del (p.Arg51fs)
|
rs1555876784
|
|
|
NM_000071.3(CBS):c.1543C>T (p.Gln515Ter)
|
|
|
|
NM_000071.3(CBS):c.1549del (p.Gln517fs)
|
|
|
|
NM_000071.3(CBS):c.154T>A (p.Cys52Ser)
|
rs2146427772
|
|
|
NM_000071.3(CBS):c.1552+10G>T
|
|
|
|
NM_000071.3(CBS):c.1552+11C>T
|
|
|
|
NM_000071.3(CBS):c.1552+12C>G
|
|
|
|
NM_000071.3(CBS):c.1552+15G>A
|
|
|
|
NM_000071.3(CBS):c.1552+20G>C
|
|
|
|
NM_000071.3(CBS):c.1552+5G>A
|
|
|
|
NM_000071.3(CBS):c.1552+7G>T
|
|
|
|
NM_000071.3(CBS):c.1552+8G>A
|
|
|
|
NM_000071.3(CBS):c.1552+9G>A
|
|
|
|
NM_000071.3(CBS):c.1553-11T>C
|
|
|
|
NM_000071.3(CBS):c.1553-14C>T
|
|
|
|
NM_000071.3(CBS):c.1553-16C>T
|
rs1057522673
|
|
|
NM_000071.3(CBS):c.1553-18G>A
|
|
|
|
NM_000071.3(CBS):c.1553-1G>C
|
rs1555869979
|
|
|
NM_000071.3(CBS):c.1553-20C>A
|
|
|
|
NM_000071.3(CBS):c.1553-2A>C
|
rs760609383
|
|
|
NM_000071.3(CBS):c.1553-5C>G
|
|
|
|
NM_000071.3(CBS):c.1553-5C>T
|
|
|
|
NM_000071.3(CBS):c.1553-6C>T
|
rs2146316045
|
|
|
NM_000071.3(CBS):c.1553-9T>A
|
|
|
|
NM_000071.3(CBS):c.155G>A (p.Cys52Tyr)
|
rs779777933
|
|
|
NM_000071.3(CBS):c.1561del (p.Thr521fs)
|
|
|
|
NM_000071.3(CBS):c.1566G>A (p.Gly522=)
|
|
|
|
NM_000071.3(CBS):c.1566del (p.Lys523fs)
|
rs786204466
|
|
|
NM_000071.3(CBS):c.156C>A (p.Cys52Ter)
|
rs1983442077
|
|
|
NM_000071.3(CBS):c.1572C>G (p.Ser524=)
|
|
|
|
NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)
|
rs1555869958
|
|
|
NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)
|
rs1555869958
|
|
|
NM_000071.3(CBS):c.1579C>A (p.Arg527=)
|
rs1455031864
|
|
|
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)
|
rs1455031864
|
|
|
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)
|
rs551198487
|
|
|
NM_000071.3(CBS):c.1581G>T (p.Arg527=)
|
rs2146315789
|
|
|
NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)
|
|
|
|
NM_000071.3(CBS):c.1584G>A (p.Gln528=)
|
rs2146315777
|
|
|
NM_000071.3(CBS):c.1597G>T (p.Val533Leu)
|
rs1568916218
|
|
|
NM_000071.3(CBS):c.1599G>A (p.Val533=)
|
|
|
|
NM_000071.3(CBS):c.15C>G (p.Thr5=)
|
|
|
|
NM_000071.3(CBS):c.1602C>T (p.Val534=)
|
|
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
|
NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)
|
|
|
|
NM_000071.3(CBS):c.1634C>T (p.Ala545Val)
|
rs754031824
|
|
|
NM_000071.3(CBS):c.1638G>A (p.Gln546=)
|
rs2146315419
|
|
|
NM_000071.3(CBS):c.1641G>A (p.Glu547=)
|
rs2146315391
|
|
|
NM_000071.3(CBS):c.1645G>A (p.Asp549Asn)
|
rs1980865900
|
|
|
NM_000071.3(CBS):c.1647C>T (p.Asp549=)
|
rs2146315284
|
|
|
NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)
|
|
|
|
NM_000071.3(CBS):c.1650G>A (p.Gln550=)
|
|
|
|
NM_000071.3(CBS):c.1653G>A (p.Lys551=)
|
rs2146315248
|
|
|
NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)
|
|
|
|
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)
|
rs1365095601
|
|
|
NM_000071.3(CBS):c.165G>A (p.Gln55=)
|
rs755690693
|
|
|
NM_000071.3(CBS):c.177T>G (p.Pro59=)
|
|
|
|
NM_000071.3(CBS):c.179C>T (p.Ala60Val)
|
rs765352771
|
|
|
NM_000071.3(CBS):c.183C>A (p.Ser61=)
|
rs753906914
|
|
|
NM_000071.3(CBS):c.184G>A (p.Glu62Lys)
|
|
|
|
NM_000071.3(CBS):c.184dup (p.Glu62fs)
|
rs2146427417
|
|
|
NM_000071.3(CBS):c.194A>G (p.His65Arg)
|
rs1191141364
|
|
|
NM_000071.3(CBS):c.194A>T (p.His65Leu)
|
|
|
|
NM_000071.3(CBS):c.198C>T (p.His66=)
|
|
|
|
NM_000071.3(CBS):c.19del (p.Gln7fs)
|
rs748695461
|
|
|
NM_000071.3(CBS):c.19dup (p.Gln7fs)
|
rs748695461
|
|
|
NM_000071.3(CBS):c.201C>T (p.His67=)
|
|
|
|
NM_000071.3(CBS):c.208_209+8del
|
rs1983427704
|
|
|
NM_000071.3(CBS):c.209+13T>C
|
|
|
|
NM_000071.3(CBS):c.209+17A>C
|
|
|
|
NM_000071.3(CBS):c.209+19C>T
|
|
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
|
NM_000071.3(CBS):c.209+1G>C
|
rs751464024
|
|
|
NM_000071.3(CBS):c.209+1_209+8del
|
rs2146427112
|
|
|
NM_000071.3(CBS):c.209+20A>T
|
|
|
|
NM_000071.3(CBS):c.209+5G>C
|
rs1555876750
|
|
|
NM_000071.3(CBS):c.209+7C>T
|
rs374583085
|
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
|
NM_000071.3(CBS):c.210-12C>T
|
|
|
|
NM_000071.3(CBS):c.210-17G>T
|
|
|
|
NM_000071.3(CBS):c.210-19G>C
|
|
|
|
NM_000071.3(CBS):c.210-1G>C
|
rs2146414477
|
|
|
NM_000071.3(CBS):c.216A>G (p.Lys72=)
|
rs1983118913
|
|
|
NM_000071.3(CBS):c.21G>A (p.Gln7=)
|
|
|
|
NM_000071.3(CBS):c.228C>T (p.Ile76=)
|
rs1555876151
|
|
|
NM_000071.3(CBS):c.229T>C (p.Leu77=)
|
rs2146414238
|
|
|
NM_000071.3(CBS):c.233C>G (p.Pro78Arg)
|
rs786204608
|
|
|
NM_000071.3(CBS):c.23C>G (p.Ala8Gly)
|
|
|
|
NM_000071.3(CBS):c.23C>T (p.Ala8Val)
|
rs919403971
|
|
|
NM_000071.3(CBS):c.240T>A (p.Ile80=)
|
rs1601375896
|
|
|
NM_000071.3(CBS):c.243G>C (p.Leu81=)
|
rs2146414153
|
|
|
NM_000071.3(CBS):c.252C>T (p.Ile84=)
|
rs1180701001
|
|
|
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)
|
rs863223435
|
|
|
NM_000071.3(CBS):c.256del (p.Asp86fs)
|
rs1208139876
|
|
|
NM_000071.3(CBS):c.258dup (p.Thr87fs)
|
|
|
|
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
|
|
|
|
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)
|
rs2146413970
|
|
|
NM_000071.3(CBS):c.263C>G (p.Pro88Arg)
|
|
|
|
NM_000071.3(CBS):c.279C>T (p.Asn93=)
|
rs1983108444
|
|
|
NM_000071.3(CBS):c.282G>A (p.Lys94=)
|
|
|
|
NM_000071.3(CBS):c.284T>A (p.Ile95Asn)
|
|
|
|
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)
|
rs1347662650
|
|
|
NM_000071.3(CBS):c.28G>T (p.Val10Leu)
|
|
|
|
NM_000071.3(CBS):c.297C>G (p.Phe99Leu)
|
rs749697783
|
|
|
NM_000071.3(CBS):c.298G>A (p.Gly100Ser)
|
|
|
|
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)
|
rs786204757
|
|
|
NM_000071.3(CBS):c.306G>C (p.Lys102Asn)
|
rs786204609
|
|
|
NM_000071.3(CBS):c.30G>A (p.Val10=)
|
|
|
|
NM_000071.3(CBS):c.312G>A (p.Glu104=)
|
rs2146413583
|
|
|
NM_000071.3(CBS):c.313C>G (p.Leu105Val)
|
rs1601375543
|
|
|
NM_000071.3(CBS):c.316+18G>A
|
|
|
|
NM_000071.3(CBS):c.316+19G>A
|
|
|
|
NM_000071.3(CBS):c.316+1G>A
|
rs1057516256
|
|
|
NM_000071.3(CBS):c.316+2_316+3del
|
|
|
|
NM_000071.3(CBS):c.316+5G>C
|
rs1601375508
|
|
|
NM_000071.3(CBS):c.316+7G>A
|
rs1601375483
|
|
|
NM_000071.3(CBS):c.316+7G>T
|
|
|
|
NM_000071.3(CBS):c.316+9C>T
|
|
|
|
NM_000071.3(CBS):c.317-10T>C
|
rs2146395626
|
|
|
NM_000071.3(CBS):c.317-15A>G
|
rs2146395668
|
|
|
NM_000071.3(CBS):c.317-15A>T
|
|
|
|
NM_000071.3(CBS):c.317-21_317-20del
|
|
|
|
NM_000071.3(CBS):c.317-2A>G
|
rs2146395543
|
|
|
NM_000071.3(CBS):c.317-3del
|
|
|
|
NM_000071.3(CBS):c.317-4C>T
|
rs1368026782
|
|
|
NM_000071.3(CBS):c.317-8C>G
|
rs1601366707
|
|
|
NM_000071.3(CBS):c.317-8C>T
|
rs1601366707
|
|
|
NM_000071.3(CBS):c.321C>T (p.Ala107=)
|
rs1555875422
|
|
|
NM_000071.3(CBS):c.323A>G (p.Lys108Arg)
|
rs2146395442
|
|
|
NM_000071.3(CBS):c.324G>A (p.Lys108=)
|
|
|
|
NM_000071.3(CBS):c.326G>A (p.Cys109Tyr)
|
|
|
|
NM_000071.3(CBS):c.330G>A (p.Glu110=)
|
rs2146395397
|
|
|
NM_000071.3(CBS):c.333C>T (p.Phe111=)
|
|
|
|
NM_000071.3(CBS):c.33G>C (p.Gly11=)
|
|
|
|
NM_000071.3(CBS):c.340G>A (p.Ala114Thr)
|
rs377708532
|
|
|
NM_000071.3(CBS):c.340G>T (p.Ala114Ser)
|
rs377708532
|
|
|
NM_000071.3(CBS):c.344G>A (p.Gly115Asp)
|
|
|
|
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)
|
rs760214620
|
|
|
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)
|
rs1982750491
|
|
|
NM_000071.3(CBS):c.361C>G (p.Arg121Gly)
|
|
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
|
NM_000071.3(CBS):c.366C>T (p.Ile122=)
|
|
|
|
NM_000071.3(CBS):c.369C>A (p.Ser123Arg)
|
rs1555875387
|
|
|
NM_000071.3(CBS):c.369C>T (p.Ser123=)
|
rs1555875387
|
|
|
NM_000071.3(CBS):c.371_374dup (p.Met126fs)
|
rs755625628
|
|
|
NM_000071.3(CBS):c.379del (p.Ile127fs)
|
|
|
|
NM_000071.3(CBS):c.381T>G (p.Ile127Met)
|
rs199824647
|
|
|
NM_000071.3(CBS):c.382G>T (p.Glu128Ter)
|
|
|
|
NM_000071.3(CBS):c.393G>C (p.Glu131Asp)
|
rs1555875351
|
|
|
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)
|
rs140002610
|
|
|
NM_000071.3(CBS):c.400G>C (p.Gly134Arg)
|
rs147474549
|
|
|
NM_000071.3(CBS):c.402del (p.Thr135fs)
|
rs1057517083
|
|
|
NM_000071.3(CBS):c.405G>T (p.Thr135=)
|
rs940663649
|
|
|
NM_000071.3(CBS):c.405_406delinsTT (p.Thr135_Leu136=)
|
rs2146394141
|
|
|
NM_000071.3(CBS):c.407del (p.Leu136fs)
|
|
|
|
NM_000071.3(CBS):c.408G>A (p.Leu136=)
|
|
|
|
NM_000071.3(CBS):c.414C>G (p.Pro138=)
|
|
|
|
NM_000071.3(CBS):c.414C>T (p.Pro138=)
|
rs201860288
|
|
|
NM_000071.3(CBS):c.421A>G (p.Thr141Ala)
|
rs2146393956
|
|
|
NM_000071.3(CBS):c.423G>A (p.Thr141=)
|
|
|
|
NM_000071.3(CBS):c.423G>C (p.Thr141=)
|
rs773579814
|
|
|
NM_000071.3(CBS):c.426T>G (p.Ile142Met)
|
|
|
|
NM_000071.3(CBS):c.427dup (p.Ile143fs)
|
rs2146393861
|
|
|
NM_000071.3(CBS):c.429C>G (p.Ile143Met)
|
rs370167302
|
|
|
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)
|
rs121964966
|
|
|
NM_000071.3(CBS):c.434C>G (p.Pro145Arg)
|
|
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
|
NM_000071.3(CBS):c.435G>T (p.Pro145=)
|
|
|
|
NM_000071.3(CBS):c.438A>C (p.Thr146=)
|
|
|
|
NM_000071.3(CBS):c.441C>A (p.Ser147=)
|
rs367669819
|
|
|
NM_000071.3(CBS):c.443G>C (p.Gly148Ala)
|
|
|
|
NM_000071.3(CBS):c.444G>A (p.Gly148=)
|
rs2146393601
|
|
|
NM_000071.3(CBS):c.444dup (p.Asn149fs)
|
rs2146393621
|
|
|
NM_000071.3(CBS):c.450C>A (p.Thr150=)
|
|
|
|
NM_000071.3(CBS):c.450C>T (p.Thr150=)
|
rs750030593
|
|
|
NM_000071.3(CBS):c.451+11G>A
|
|
|
|
NM_000071.3(CBS):c.451+16A>T
|
|
|
|
NM_000071.3(CBS):c.451+1G>T
|
rs1555875292
|
|
|
NM_000071.3(CBS):c.451+20G>A
|
rs1057520922
|
|
|
NM_000071.3(CBS):c.451+20G>C
|
|
|
|
NM_000071.3(CBS):c.451+20G>T
|
rs1057520922
|
|
|
NM_000071.3(CBS):c.451+7G>A
|
|
|
|
NM_000071.3(CBS):c.451+8C>T
|
rs1268489943
|
|
|
NM_000071.3(CBS):c.451G>T (p.Gly151Trp)
|
rs373782713
|
|
|
NM_000071.3(CBS):c.452-14C>G
|
|
|
|
NM_000071.3(CBS):c.452-153_624dup
|
rs1568932440
|
|
|
NM_000071.3(CBS):c.452-16C>T
|
rs1298903868
|
|
|
NM_000071.3(CBS):c.452-17C>T
|
|
|
|
NM_000071.3(CBS):c.452-18C>A
|
|
|
|
NM_000071.3(CBS):c.452-19A>G
|
|
|
|
NM_000071.3(CBS):c.452-1G>A
|
|
|
|
NM_000071.3(CBS):c.452-4T>C
|
rs2146388397
|
|
|
NM_000071.3(CBS):c.456C>G (p.Ile152Met)
|
|
|
|
NM_000071.3(CBS):c.456_477del (p.Ile152fs)
|
rs2146387963
|
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
|
NM_000071.3(CBS):c.465C>A (p.Ala155=)
|
|
|
|
NM_000071.3(CBS):c.465C>T (p.Ala155=)
|
rs962625978
|
|
|
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)
|
rs199817801
|
|
|
NM_000071.3(CBS):c.472G>A (p.Ala158Thr)
|
|
|
|
NM_000071.3(CBS):c.474G>C (p.Ala158=)
|
rs189362155
|
|
|
NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs)
|
rs1982618780
|
|
|
NM_000071.3(CBS):c.481del (p.Arg161fs)
|
rs2146387904
|
|
|
NM_000071.3(CBS):c.492C>G (p.Arg164=)
|
|
|
|
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)
|
rs1234354755
|
|
|
NM_000071.3(CBS):c.495C>T (p.Cys165=)
|
|
|
|
NM_000071.3(CBS):c.49C>A (p.His17Asn)
|
rs2146428735
|
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
|
NM_000071.3(CBS):c.504G>A (p.Val168=)
|
|
|
|
NM_000071.3(CBS):c.518T>G (p.Met173Arg)
|
rs1982605960
|
|
|
NM_000071.3(CBS):c.522C>T (p.Ser174=)
|
|
|
|
NM_000071.3(CBS):c.525C>G (p.Ser175=)
|
|
|
|
NM_000071.3(CBS):c.526G>A (p.Glu176Lys)
|
rs762065361
|
|
|
NM_000071.3(CBS):c.526G>C (p.Glu176Gln)
|
|
|
|
NM_000071.3(CBS):c.526G>T (p.Glu176Ter)
|
rs762065361
|
|
|
NM_000071.3(CBS):c.527A>G (p.Glu176Gly)
|
|
|
|
NM_000071.3(CBS):c.528G>C (p.Glu176Asp)
|
|
|
|
NM_000071.3(CBS):c.52C>A (p.Arg18Ser)
|
rs201827340
|
|
|
NM_000071.3(CBS):c.530A>C (p.Lys177Thr)
|
|
|
|
NM_000071.3(CBS):c.531+10C>T
|
|
|
|
NM_000071.3(CBS):c.531+12T>A
|
|
|
|
NM_000071.3(CBS):c.531+15C>T
|
|
|
|
NM_000071.3(CBS):c.531+16C>A
|
|
|
|
NM_000071.3(CBS):c.531+17del
|
|
|
|
NM_000071.3(CBS):c.531+19G>T
|
|
|
|
NM_000071.3(CBS):c.531+1G>A
|
|
|
|
NM_000071.3(CBS):c.531+1G>T
|
rs1207298097
|
|
|
NM_000071.3(CBS):c.531+8G>A
|
|
|
|
NM_000071.3(CBS):c.532-16G>A
|
rs373834235
|
|
|
NM_000071.3(CBS):c.532-16G>T
|
|
|
|
NM_000071.3(CBS):c.532-18C>A
|
|
|
|
NM_000071.3(CBS):c.532-19A>G
|
|
|
|
NM_000071.3(CBS):c.532-1G>A
|
rs2146385603
|
|
|
NM_000071.3(CBS):c.532-2A>G
|
rs1568932835
|
|
|
NM_000071.3(CBS):c.532-7C>G
|
|
|
|
NM_000071.3(CBS):c.534G>T (p.Val178=)
|
rs1982572494
|
|
|
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)
|
rs794727835
|
|
|
NM_000071.3(CBS):c.542T>C (p.Leu181Pro)
|
|
|
|
NM_000071.3(CBS):c.544C>T (p.Arg182Trp)
|
|
|
|
NM_000071.3(CBS):c.546G>A (p.Arg182=)
|
rs2146385311
|
|
|
NM_000071.3(CBS):c.54C>T (p.Arg18=)
|
rs1601384537
|
|
|
NM_000071.3(CBS):c.554G>A (p.Gly185Glu)
|
|
|
|
NM_000071.3(CBS):c.555G>T (p.Gly185=)
|
rs1291496530
|
|
|
NM_000071.3(CBS):c.56C>T (p.Ser19Leu)
|
|
|
|
NM_000071.3(CBS):c.576C>T (p.Pro192=)
|
|
|
|
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
|
|
|
|
NM_000071.3(CBS):c.581A>G (p.Asn194Ser)
|
|
|
|
NM_000071.3(CBS):c.582T>C (p.Asn194=)
|
|
|
|
NM_000071.3(CBS):c.585C>G (p.Ala195=)
|
|
|
|
NM_000071.3(CBS):c.586A>C (p.Arg196=)
|
|
|
|
NM_000071.3(CBS):c.591C>T (p.Phe197=)
|
|
|
|
NM_000071.3(CBS):c.596C>G (p.Ser199Cys)
|
rs1982554358
|
|
|
NM_000071.3(CBS):c.597C>T (p.Ser199=)
|
rs764210379
|
|
|
NM_000071.3(CBS):c.59G>A (p.Gly20Glu)
|
rs1983457688
|
|
|
NM_000071.3(CBS):c.606A>T (p.Ser202=)
|
rs2146384454
|
|
|
NM_000071.3(CBS):c.60G>A (p.Gly20=)
|
|
|
|
NM_000071.3(CBS):c.60G>T (p.Gly20=)
|
rs1172449590
|
|
|
NM_000071.3(CBS):c.612G>A (p.Val204=)
|
rs539670390
|
|
|
NM_000071.3(CBS):c.612G>T (p.Val204=)
|
rs539670390
|
|
|
NM_000071.3(CBS):c.615G>A (p.Gly205=)
|
|
|
|
NM_000071.3(CBS):c.618G>T (p.Val206=)
|
|
|
|
NM_000071.3(CBS):c.621C>T (p.Ala207=)
|
|
|
|
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)
|
rs1060500683
|
|
|
NM_000071.3(CBS):c.624G>A (p.Trp208Ter)
|
rs774174074
|
|
|
NM_000071.3(CBS):c.624G>T (p.Trp208Cys)
|
rs774174074
|
|
|
NM_000071.3(CBS):c.625C>A (p.Arg209=)
|
rs137939628
|
|
|
NM_000071.3(CBS):c.626G>A (p.Arg209Gln)
|
rs781759129
|
|
|
NM_000071.3(CBS):c.626G>C (p.Arg209Pro)
|
|
|
|
NM_000071.3(CBS):c.638A>G (p.Glu213Gly)
|
|
|
|
NM_000071.3(CBS):c.63A>G (p.Pro21=)
|
|
|
|
NM_000071.3(CBS):c.642C>A (p.Ile214=)
|
rs752866551
|
|
|
NM_000071.3(CBS):c.642C>T (p.Ile214=)
|
rs752866551
|
|
|
NM_000071.3(CBS):c.666+11T>C
|
|
|
|
NM_000071.3(CBS):c.666+15G>A
|
rs2146383353
|
|
|
NM_000071.3(CBS):c.666+19G>A
|
|
|
|
NM_000071.3(CBS):c.666+7C>T
|
|
|
|
NM_000071.3(CBS):c.666+9C>A
|
|
|
|
NM_000071.3(CBS):c.666+9C>T
|
rs760597046
|
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
|
NM_000071.3(CBS):c.667-14C>G
|
rs1388184910
|
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
|
NM_000071.3(CBS):c.667-15T>C
|
|
|
|
NM_000071.3(CBS):c.667-18T>C
|
|
|
|
NM_000071.3(CBS):c.667-3C>A
|
|
|
|
NM_000071.3(CBS):c.667-4G>A
|
rs750338571
|
|
|
NM_000071.3(CBS):c.667-4G>T
|
rs750338571
|
|
|
NM_000071.3(CBS):c.667-7T>C
|
rs2146382253
|
|
|
NM_000071.3(CBS):c.667-9T>G
|
rs1231532652
|
|
|
NM_000071.3(CBS):c.669C>T (p.Tyr223=)
|
rs1366764579
|
|
|
NM_000071.3(CBS):c.66C>T (p.His22=)
|
|
|
|
NM_000071.3(CBS):c.671G>A (p.Arg224His)
|
|
|
|
NM_000071.3(CBS):c.671G>T (p.Arg224Leu)
|
rs761647392
|
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
|
NM_000071.3(CBS):c.676G>T (p.Ala226Ser)
|
|
|
|
NM_000071.3(CBS):c.677C>A (p.Ala226Asp)
|
|
|
|
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)
|
rs1555874803
|
|
|
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)
|
rs1464223176
|
|
|
NM_000071.3(CBS):c.684C>T (p.Asn228=)
|
|
|
|
NM_000071.3(CBS):c.685C>A (p.Pro229Thr)
|
rs375730175
|
|
|
NM_000071.3(CBS):c.688C>T (p.Leu230=)
|
|
|
|
NM_000071.3(CBS):c.690G>A (p.Leu230=)
|
rs2146381761
|
|
|
NM_000071.3(CBS):c.698_699inv (p.Tyr233Cys)
|
|
|
|
NM_000071.3(CBS):c.6T>A (p.Pro2=)
|
|
|
|
NM_000071.3(CBS):c.702C>T (p.Asp234=)
|
rs2146381576
|
|
|
NM_000071.3(CBS):c.702del (p.Asp234fs)
|
rs2146381604
|
|
|
NM_000071.3(CBS):c.709G>A (p.Ala237Thr)
|
|
|
|
NM_000071.3(CBS):c.710C>T (p.Ala237Val)
|
rs1568931765
|
|
|
NM_000071.3(CBS):c.721C>T (p.Leu241=)
|
|
|
|
NM_000071.3(CBS):c.723G>C (p.Leu241=)
|
|
|
|
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
|
|
|
|
NM_000071.3(CBS):c.729G>A (p.Gln243=)
|
|
|
|
NM_000071.3(CBS):c.731G>A (p.Cys244Tyr)
|
rs1982489718
|
|
|
NM_000071.3(CBS):c.732T>C (p.Cys244=)
|
|
|
|
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
|
|
|
|
NM_000071.3(CBS):c.736+11C>G
|
|
|
|
NM_000071.3(CBS):c.736+11C>T
|
|
|
|
NM_000071.3(CBS):c.736+17A>G
|
rs1982483674
|
|
|
NM_000071.3(CBS):c.736+17A>T
|
|
|
|
NM_000071.3(CBS):c.736+2T>G
|
rs863223430
|
|
|
NM_000071.3(CBS):c.736+7C>A
|
|
|
|
NM_000071.3(CBS):c.736+8C>A
|
rs752611922
|
|
|
NM_000071.3(CBS):c.736+8C>T
|
|
|
|
NM_000071.3(CBS):c.736+9C>G
|
|
|
|
NM_000071.3(CBS):c.736+9C>T
|
|
|
|
NM_000071.3(CBS):c.737-10C>A
|
|
|
|
NM_000071.3(CBS):c.737-10C>G
|
|
|
|
NM_000071.3(CBS):c.737-12T>C
|
|
|
|
NM_000071.3(CBS):c.737-13A>G
|
|
|
|
NM_000071.3(CBS):c.737-17T>C
|
|
|
|
NM_000071.3(CBS):c.737-19A>T
|
|
|
|
NM_000071.3(CBS):c.737-7C>T
|
|
|
|
NM_000071.3(CBS):c.738del
|
rs766453711
|
|
|
NM_000071.3(CBS):c.740_769del (p.Lys247_Gly256del)
|
|
|
|
NM_000071.3(CBS):c.741G>A (p.Lys247=)
|
|
|
|
NM_000071.3(CBS):c.745G>A (p.Asp249Asn)
|
rs767397847
|
|
|
NM_000071.3(CBS):c.747C>T (p.Asp249=)
|
rs1601356424
|
|
|
NM_000071.3(CBS):c.748A>G (p.Met250Val)
|
rs777884368
|
|
|
NM_000071.3(CBS):c.748A>T (p.Met250Leu)
|
|
|
|
NM_000071.3(CBS):c.749T>A (p.Met250Lys)
|
rs1555874564
|
|
|
NM_000071.3(CBS):c.750G>A (p.Met250Ile)
|
rs863223431
|
|
|
NM_000071.3(CBS):c.750G>C (p.Met250Ile)
|
|
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
|
NM_000071.3(CBS):c.753G>T (p.Leu251=)
|
rs2146375662
|
|
|
NM_000071.3(CBS):c.754del (p.Val252fs)
|
|
|
|
NM_000071.3(CBS):c.75G>A (p.Lys25=)
|
|
|
|
NM_000071.3(CBS):c.75G>T (p.Lys25Asn)
|
rs1484147890
|
|
|
NM_000071.3(CBS):c.761C>T (p.Ser254Leu)
|
|
|
|
NM_000071.3(CBS):c.762A>T (p.Ser254=)
|
rs2146375612
|
|
|
NM_000071.3(CBS):c.766G>A (p.Gly256Ser)
|
rs1000697114
|
|
|
NM_000071.3(CBS):c.771G>T (p.Thr257=)
|
|
|
|
NM_000071.3(CBS):c.776G>A (p.Gly259Asp)
|
|
|
|
NM_000071.3(CBS):c.783C>A (p.Ile261=)
|
|
|
|
NM_000071.3(CBS):c.784A>G (p.Thr262Ala)
|
|
|
|
NM_000071.3(CBS):c.785C>G (p.Thr262Arg)
|
|
|
|
NM_000071.3(CBS):c.786G>C (p.Thr262=)
|
|
|
|
NM_000071.3(CBS):c.78G>A (p.Gly26=)
|
rs370064290
|
|
|
NM_000071.3(CBS):c.78dup (p.Ser27fs)
|
|
|
|
NM_000071.3(CBS):c.795C>T (p.Ala265=)
|
rs774812804
|
|
|
NM_000071.3(CBS):c.802C>T (p.Leu268=)
|
rs2146375082
|
|
|
NM_000071.3(CBS):c.808G>A (p.Glu270Lys)
|
|
|
|
NM_000071.3(CBS):c.808_810del (p.Glu270del)
|
rs760710691
|
|
|
NM_000071.3(CBS):c.815_816del (p.Cys272fs)
|
|
|
|
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)
|
rs528689432
|
|
|
NM_000071.3(CBS):c.816T>C (p.Cys272=)
|
|
|
|
NM_000071.3(CBS):c.817C>T (p.Pro273Ser)
|
rs2146374921
|
|
|
NM_000071.3(CBS):c.822A>T (p.Gly274=)
|
rs2146374874
|
|
|
NM_000071.3(CBS):c.825C>A (p.Cys275Ter)
|
|
|
|
NM_000071.3(CBS):c.825C>T (p.Cys275=)
|
rs764638041
|
|
|
NM_000071.3(CBS):c.828+15C>T
|
|
|
|
NM_000071.3(CBS):c.828+16G>C
|
|
|
|
NM_000071.3(CBS):c.828+7G>A
|
|
|
|
NM_000071.3(CBS):c.829-10C>A
|
|
|
|
NM_000071.3(CBS):c.829-12C>A
|
|
|
|
NM_000071.3(CBS):c.829-13G>T
|
|
|
|
NM_000071.3(CBS):c.829-14C>A
|
|
|
|
NM_000071.3(CBS):c.829-249_878del
|
rs2146366969
|
|
|
NM_000071.3(CBS):c.829-2dup
|
|
|
|
NM_000071.3(CBS):c.829-4G>A
|
rs1601352751
|
|
|
NM_000071.3(CBS):c.829-8C>G
|
rs750081937
|
|
|
NM_000071.3(CBS):c.837_841dup (p.Asp281fs)
|
|
|
|
NM_000071.3(CBS):c.838G>A (p.Val280Met)
|
rs1982225866
|
|
|
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer)
|
rs2146367577
|
|
|
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGAGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer)
|
rs2146367555
|
|
|
NM_000071.3(CBS):c.846C>T (p.Pro282=)
|
|
|
|
NM_000071.3(CBS):c.84G>A (p.Leu28=)
|
rs1601384336
|
|
|
NM_000071.3(CBS):c.852G>A (p.Gly284=)
|
rs1269665368
|
|
|
NM_000071.3(CBS):c.855C>T (p.Ser285=)
|
rs1201628362
|
|
|
NM_000071.3(CBS):c.857T>C (p.Ile286Thr)
|
rs1060500681
|
|
|
NM_000071.3(CBS):c.861C>T (p.Leu287=)
|
rs754312192
|
|
|
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)
|
rs141502207
|
|
|
NM_000071.3(CBS):c.864A>C (p.Ala288=)
|
rs2146367182
|
|
|
NM_000071.3(CBS):c.866A>G (p.Glu289Gly)
|
rs1601352415
|
|
|
NM_000071.3(CBS):c.869C>T (p.Pro290Leu)
|
rs760912339
|
|
|
NM_000071.3(CBS):c.870G>C (p.Pro290=)
|
rs773580068
|
|
|
NM_000071.3(CBS):c.87G>A (p.Glu29=)
|
|
|
|
NM_000071.3(CBS):c.887C>T (p.Thr296Met)
|
rs562530775
|
|
|
NM_000071.3(CBS):c.888G>C (p.Thr296=)
|
|
|
|
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
|
|
|
|
NM_000071.3(CBS):c.892dup (p.Gln298fs)
|
|
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
|
NM_000071.3(CBS):c.906G>A (p.Glu302=)
|
rs2146366576
|
|
|
NM_000071.3(CBS):c.90G>A (p.Lys30=)
|
rs2146428287
|
|
|
NM_000071.3(CBS):c.915G>C (p.Gly305=)
|
|
|
|
NM_000071.3(CBS):c.915G>T (p.Gly305=)
|
|
|
|
NM_000071.3(CBS):c.920G>A (p.Gly307Asp)
|
|
|
|
NM_000071.3(CBS):c.920G>C (p.Gly307Ala)
|
|
|
|
NM_000071.3(CBS):c.920G>T (p.Gly307Val)
|
|
|
|
NM_000071.3(CBS):c.933C>T (p.Ile311=)
|
rs2146366372
|
|
|
NM_000071.3(CBS):c.936C>T (p.Pro312=)
|
rs1601351871
|
|
|
NM_000071.3(CBS):c.938C>T (p.Thr313Met)
|
|
|
|
NM_000071.3(CBS):c.93G>T (p.Gly31=)
|
rs754409674
|
|
|
NM_000071.3(CBS):c.945G>A (p.Leu315=)
|
rs2146366216
|
|
|
NM_000071.3(CBS):c.946G>A (p.Asp316Asn)
|
rs2146366197
|
|
|
NM_000071.3(CBS):c.948C>T (p.Asp316=)
|
|
|
|
NM_000071.3(CBS):c.949A>G (p.Arg317Gly)
|
|
|
|
NM_000071.3(CBS):c.954+10G>A
|
|
|
|
NM_000071.3(CBS):c.954+15G>T
|
|
|
|
NM_000071.3(CBS):c.954+17G>A
|
|
|
|
NM_000071.3(CBS):c.954+18C>G
|
rs1057521202
|
|
|
NM_000071.3(CBS):c.954+1G>A
|
rs1057517373
|
|
|
NM_000071.3(CBS):c.954+20C>A
|
|
|
|
NM_000071.3(CBS):c.954+2T>G
|
rs1555874121
|
|
|
NM_000071.3(CBS):c.954+5G>T
|
rs1568928886
|
|
|
NM_000071.3(CBS):c.954+8G>T
|
|
|
|
NM_000071.3(CBS):c.954+9A>G
|
|
|
|
NM_000071.3(CBS):c.954G>A (p.Thr318=)
|
rs776122644
|
|
|
NM_000071.3(CBS):c.955-11G>T
|
|
|
|
NM_000071.3(CBS):c.955-3C>T
|
|
|
|
NM_000071.3(CBS):c.955-5C>A
|
rs746366131
|
|
|
NM_000071.3(CBS):c.955-5C>T
|
|
|
|
NM_000071.3(CBS):c.955-8C>T
|
rs1290305207
|
|
|
NM_000071.3(CBS):c.957G>C (p.Val319=)
|
|
|
|
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)
|
rs863223432
|
|
|
NM_000071.3(CBS):c.972C>T (p.Phe324=)
|
|
|
|
NM_000071.3(CBS):c.978C>T (p.Ser326=)
|
rs1343681863
|
|
|
NM_000071.3(CBS):c.987G>C (p.Glu329Asp)
|
rs765151853
|
|
|
NM_000071.3(CBS):c.98del (p.Pro33fs)
|
rs2146428203
|
|
|
NM_000071.3(CBS):c.990G>A (p.Glu330=)
|
rs1373353287
|
|
|
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)
|
rs777919630
|
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
|
NM_000108.5(DLD):c.1005T>C (p.Gly335=)
|
rs763878786
|
|
|
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly)
|
rs776547214
|
|
|
NM_000108.5(DLD):c.1011T>C (p.Ile337=)
|
rs761507009
|
|
|
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
|
rs764979410
|
|
|
NM_000108.5(DLD):c.1023C>A (p.Thr341=)
|
rs2116270465
|
|
|
NM_000108.5(DLD):c.1023C>T (p.Thr341=)
|
rs2116270465
|
|
|
NM_000108.5(DLD):c.1035T>C (p.Thr345=)
|
|
|
|
NM_000108.5(DLD):c.1044A>C (p.Pro348=)
|
rs1241426016
|
|
|
NM_000108.5(DLD):c.1046+16G>A
|
|
|
|
NM_000108.5(DLD):c.1046+16G>T
|
|
|
|
NM_000108.5(DLD):c.1047-13A>T
|
|
|
|
NM_000108.5(DLD):c.1047-13_1047-5del
|
rs1462836154
|
|
|
NM_000108.5(DLD):c.1047-19C>A
|
|
|
|
NM_000108.5(DLD):c.1047-4G>T
|
rs2116271429
|
|
|
NM_000108.5(DLD):c.1047-7G>A
|
|
|
|
NM_000108.5(DLD):c.1047-7G>T
|
|
|
|
NM_000108.5(DLD):c.1047-7_1047-4del
|
rs2116271424
|
|
|
NM_000108.5(DLD):c.104del (p.Tyr35fs)
|
|
|
|
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
|
|
|
|
NM_000108.5(DLD):c.1053T>C (p.Tyr351=)
|
rs2116271455
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
|
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
|
|
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
|
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
|
|
|
|
NM_000108.5(DLD):c.1074T>C (p.Ala358=)
|
|
|
|
NM_000108.5(DLD):c.108A>G (p.Ala36=)
|
|
|
|
NM_000108.5(DLD):c.108A>T (p.Ala36=)
|
|
|
|
NM_000108.5(DLD):c.1095A>G (p.Lys365=)
|
|
|
|
NM_000108.5(DLD):c.1113T>C (p.Ile371=)
|
rs773097241
|
|
|
NM_000108.5(DLD):c.1116C>A (p.Ile372=)
|
rs2116271616
|
|
|
NM_000108.5(DLD):c.1116_1117del (p.Ile372fs)
|
|
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
|
NM_000108.5(DLD):c.1139del (p.Gly380fs)
|
|
|
|
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
|
|
|
|
NM_000108.5(DLD):c.1158C>G (p.Tyr386Ter)
|
|
|
|
NM_000108.5(DLD):c.1158C>T (p.Tyr386=)
|
|
|
|
NM_000108.5(DLD):c.1173A>G (p.Ser391=)
|
|
|
|
NM_000108.5(DLD):c.1179T>C (p.Ile393=)
|
|
|
|
NM_000108.5(DLD):c.118+10T>G
|
rs1436028319
|
|
|
NM_000108.5(DLD):c.118+11A>G
|
|
|
|
NM_000108.5(DLD):c.118+12A>G
|
|
|
|
NM_000108.5(DLD):c.118+13G>A
|
|
|
|
NM_000108.5(DLD):c.118+18A>G
|
|
|
|
NM_000108.5(DLD):c.118+19C>G
|
|
|
|
NM_000108.5(DLD):c.118+19C>T
|
|
|
|
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
|
rs757087726
|
|
|
NM_000108.5(DLD):c.119-16T>C
|
|
|
|
NM_000108.5(DLD):c.119-18A>T
|
|
|
|
NM_000108.5(DLD):c.119-1G>A
|
rs2116206966
|
|
|
NM_000108.5(DLD):c.119-7A>G
|
rs2116206903
|
|
|
NM_000108.5(DLD):c.119-9T>C
|
|
|
|
NM_000108.5(DLD):c.1191T>C (p.Pro397=)
|
rs2116272074
|
|
|
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
|
|
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
|
NM_000108.5(DLD):c.1215A>G (p.Ser405=)
|
|
|
|
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
|
|
|
|
NM_000108.5(DLD):c.1221G>A (p.Glu407=)
|
|
|
|
NM_000108.5(DLD):c.1232_1233del (p.Glu411fs)
|
|
|
|
NM_000108.5(DLD):c.1233A>G (p.Glu411=)
|
|
|
|
NM_000108.5(DLD):c.1236+13A>T
|
|
|
|
NM_000108.5(DLD):c.1236+16G>A
|
rs2116272359
|
|
|
NM_000108.5(DLD):c.1236+16G>T
|
|
|
|
NM_000108.5(DLD):c.1236+19_1236+20insAAAA
|
|
|
|
NM_000108.5(DLD):c.1236+5G>A
|
|
|
|
NM_000108.5(DLD):c.1236+7C>A
|
|
|
|
NM_000108.5(DLD):c.1237-13C>G
|
|
|
|
NM_000108.5(DLD):c.1237-15_1237-14del
|
|
|
|
NM_000108.5(DLD):c.1237-17T>C
|
|
|
|
NM_000108.5(DLD):c.1237-5C>T
|
|
|
|
NM_000108.5(DLD):c.1237-7G>A
|
rs765771763
|
|
|
NM_000108.5(DLD):c.1237-7G>C
|
|
|
|
NM_000108.5(DLD):c.1245G>A (p.Glu415=)
|
|
|
|
NM_000108.5(DLD):c.1245_1249del (p.Tyr416fs)
|
rs2116273912
|
|
|
NM_000108.5(DLD):c.1248C>T (p.Tyr416=)
|
rs773685921
|
|
|
NM_000108.5(DLD):c.1254T>A (p.Val418=)
|
rs763401114
|
|
|
NM_000108.5(DLD):c.1254T>C (p.Val418=)
|
rs763401114
|
|
|
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
|
rs1005430908
|
|
|
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
|
rs2116274251
|
|
|
NM_000108.5(DLD):c.12G>A (p.Trp4Ter)
|
rs1562908173
|
|
|
NM_000108.5(DLD):c.1302C>T (p.Asp434=)
|
|
|
|
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
|
rs2116274362
|
|
|
NM_000108.5(DLD):c.1323C>T (p.Ile441=)
|
|
|
|
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
|
|
|
|
NM_000108.5(DLD):c.1338G>A (p.Ser446=)
|
rs1323254312
|
|
|
NM_000108.5(DLD):c.1344C>T (p.Asp448=)
|
|
|
|
NM_000108.5(DLD):c.1344_1347del (p.Asp448fs)
|
rs1402761530
|
|
|
NM_000108.5(DLD):c.1353G>A (p.Leu451=)
|
|
|
|
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
|
|
|
|
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
|
rs1291150689
|
|
|
NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)
|
|
|
|
NM_000108.5(DLD):c.1374+10G>A
|
rs2116274678
|
|
|
NM_000108.5(DLD):c.1374+12A>G
|
|
|
|
NM_000108.5(DLD):c.1374+16C>T
|
|
|
|
NM_000108.5(DLD):c.1374+17C>T
|
|
|
|
NM_000108.5(DLD):c.1374+9T>A
|
rs1584473925
|
|
|
NM_000108.5(DLD):c.1374+9T>G
|
|
|
|
NM_000108.5(DLD):c.1375-17G>T
|
|
|
|
NM_000108.5(DLD):c.1377T>A (p.Gly459=)
|
rs2032340474
|
|
|
NM_000108.5(DLD):c.1396G>T (p.Glu466Ter)
|
rs2116277809
|
|
|
NM_000108.5(DLD):c.140T>C (p.Ile47Thr)
|
rs397514651
|
|
|
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
|
|
|
|
NM_000108.5(DLD):c.1416A>G (p.Glu472=)
|
|
|
|
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)
|
rs1214130226
|
|
|
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
|
|
|
|
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
|
rs2032344125
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
|
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
|
|
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
|
NM_000108.5(DLD):c.144T>C (p.Gly48=)
|
rs2116207135
|
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
|
NM_000108.5(DLD):c.1464+16A>G
|
|
|
|
NM_000108.5(DLD):c.1464+17T>C
|
rs2116278286
|
|
|
NM_000108.5(DLD):c.1464+19T>C
|
|
|
|
NM_000108.5(DLD):c.1464+1G>A
|
|
|
|
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
|
|
|
|
NM_000108.5(DLD):c.1465-12C>T
|
|
|
|
NM_000108.5(DLD):c.1465-16A>T
|
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
|
NM_000108.5(DLD):c.1465-9C>T
|
rs2032348186
|
|
|
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
|
rs2032348683
|
|
|
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
|
|
|
|
NM_000108.5(DLD):c.1506A>G (p.Ser502=)
|
rs941059131
|
|
|
NM_000108.5(DLD):c.1515A>G (p.Lys505=)
|
|
|
|
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
|
|
|
|
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
|
|
|
|
NM_000108.5(DLD):c.156A>G (p.Gly52=)
|
|
|
|
NM_000108.5(DLD):c.159A>G (p.Gly53=)
|
|
|
|
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
|
|
|
|
NM_000108.5(DLD):c.168T>C (p.Ala56=)
|
rs2116207243
|
|
|
NM_000108.5(DLD):c.175A>T (p.Lys59Ter)
|
|
|
|
NM_000108.5(DLD):c.180T>G (p.Ala60=)
|
rs2116207327
|
|
|
NM_000108.5(DLD):c.183C>G (p.Ala61=)
|
rs2031882834
|
|
|
NM_000108.5(DLD):c.183C>T (p.Ala61=)
|
rs2031882834
|
|
|
NM_000108.5(DLD):c.189A>G (p.Leu63=)
|
|
|
|
NM_000108.5(DLD):c.18T>C (p.Arg6=)
|
rs2116150112
|
|
|
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
|
rs2031883055
|
|
|
NM_000108.5(DLD):c.192C>A (p.Gly64=)
|
rs1222766486
|
|
|
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
|
|
|
|
NM_000108.5(DLD):c.198+10G>C
|
rs777566045
|
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
|
NM_000108.5(DLD):c.199-10T>C
|
rs2116209763
|
|
|
NM_000108.5(DLD):c.199-4G>A
|
|
|
|
NM_000108.5(DLD):c.199-6T>C
|
rs1584462430
|
|
|
NM_000108.5(DLD):c.204C>T (p.Val68=)
|
rs553951105
|
|
|
NM_000108.5(DLD):c.228T>C (p.Leu76=)
|
|
|
|
NM_000108.5(DLD):c.231T>C (p.Gly77=)
|
|
|
|
NM_000108.5(DLD):c.237A>G (p.Thr79=)
|
|
|
|
NM_000108.5(DLD):c.24C>G (p.Tyr8Ter)
|
rs778122189
|
|
|
NM_000108.5(DLD):c.267+12T>C
|
|
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
|
NM_000108.5(DLD):c.267+8T>A
|
|
|
|
NM_000108.5(DLD):c.267+9G>C
|
rs188936529
|
|
|
NM_000108.5(DLD):c.268-15T>C
|
|
|
|
NM_000108.5(DLD):c.268-20A>T
|
|
|
|
NM_000108.5(DLD):c.268-3T>A
|
rs2031928500
|
|
|
NM_000108.5(DLD):c.268-6C>T
|
|
|
|
NM_000108.5(DLD):c.273A>G (p.Leu91=)
|
|
|
|
NM_000108.5(DLD):c.27C>T (p.Cys9=)
|
|
|
|
NM_000108.5(DLD):c.285T>C (p.Ser95=)
|
rs761564212
|
|
|
NM_000108.5(DLD):c.285_286del (p.His96fs)
|
|
|
|
NM_000108.5(DLD):c.297T>C (p.His99=)
|
|
|
|
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
|
|
|
|
NM_000108.5(DLD):c.305A>T (p.His102Leu)
|
rs893865374
|
|
|
NM_000108.5(DLD):c.306T>C (p.His102=)
|
|
|
|
NM_000108.5(DLD):c.308_310delinsT (p.Gly103fs)
|
rs2031929480
|
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.30C>T (p.Ser10=)
|
rs779166996
|
|
|
NM_000108.5(DLD):c.337+10C>T
|
rs752671238
|
|
|
NM_000108.5(DLD):c.337+16A>G
|
|
|
|
NM_000108.5(DLD):c.337+17T>C
|
|
|
|
NM_000108.5(DLD):c.337+19C>T
|
rs751168608
|
|
|
NM_000108.5(DLD):c.337+1G>T
|
|
|
|
NM_000108.5(DLD):c.338-18del
|
|
|
|
NM_000108.5(DLD):c.338-1G>A
|
|
|
|
NM_000108.5(DLD):c.338-2A>G
|
|
|
|
NM_000108.5(DLD):c.338-4A>C
|
rs2116219347
|
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
|
NM_000108.5(DLD):c.351C>A (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.351C>G (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.351C>T (p.Arg117=)
|
rs374988228
|
|
|
NM_000108.5(DLD):c.361G>A (p.Asp121Asn)
|
rs780305161
|
|
|
NM_000108.5(DLD):c.362del (p.Asp121fs)
|
rs2116219533
|
|
|
NM_000108.5(DLD):c.367A>G (p.Met123Val)
|
rs111352707
|
|
|
NM_000108.5(DLD):c.380del (p.Lys127fs)
|
|
|
|
NM_000108.5(DLD):c.39+10G>A
|
|
|
|
NM_000108.5(DLD):c.39+10G>C
|
|
|
|
NM_000108.5(DLD):c.39+12G>A
|
|
|
|
NM_000108.5(DLD):c.39+14A>G
|
|
|
|
NM_000108.5(DLD):c.39+14A>T
|
|
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
|
NM_000108.5(DLD):c.39+20G>C
|
|
|
|
NM_000108.5(DLD):c.39+3G>C
|
rs2031564629
|
|
|
NM_000108.5(DLD):c.39+7G>A
|
|
|
|
NM_000108.5(DLD):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000108.5(DLD):c.40-10C>G
|
rs2116162378
|
|
|
NM_000108.5(DLD):c.40-17A>G
|
|
|
|
NM_000108.5(DLD):c.40-18G>A
|
|
|
|
NM_000108.5(DLD):c.40-20G>A
|
rs2031631950
|
|
|
NM_000108.5(DLD):c.40-2A>G
|
|
|
|
NM_000108.5(DLD):c.40-3T>A
|
|
|
|
NM_000108.5(DLD):c.40-3T>C
|
rs2116162419
|
|
|
NM_000108.5(DLD):c.40-4del
|
rs2116162407
|
|
|
NM_000108.5(DLD):c.40-5del
|
|
|
|
NM_000108.5(DLD):c.421T>C (p.Leu141=)
|
rs2116219899
|
|
|
NM_000108.5(DLD):c.438+12A>C
|
|
|
|
NM_000108.5(DLD):c.438+15T>C
|
|
|
|
NM_000108.5(DLD):c.438+15T>G
|
|
|
|
NM_000108.5(DLD):c.438+16T>G
|
|
|
|
NM_000108.5(DLD):c.438+7G>A
|
|
|
|
NM_000108.5(DLD):c.439-2A>G
|
|
|
|
NM_000108.5(DLD):c.439-4A>G
|
rs1270309743
|
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
|
NM_000108.5(DLD):c.439-7_439-6inv
|
|
|
|
NM_000108.5(DLD):c.439-7del
|
|
|
|
NM_000108.5(DLD):c.444T>G (p.Val148=)
|
rs2116221274
|
|
|
NM_000108.5(DLD):c.450C>A (p.Val150=)
|
rs2116221334
|
|
|
NM_000108.5(DLD):c.453T>C (p.Asn151=)
|
|
|
|
NM_000108.5(DLD):c.459T>G (p.Tyr153Ter)
|
rs2116221384
|
|
|
NM_000108.5(DLD):c.462A>G (p.Gly154=)
|
rs2116221430
|
|
|
NM_000108.5(DLD):c.474C>A (p.Gly158=)
|
rs2116221541
|
|
|
NM_000108.5(DLD):c.474C>T (p.Gly158=)
|
|
|
|
NM_000108.5(DLD):c.486C>A (p.Val162=)
|
|
|
|
NM_000108.5(DLD):c.489T>G (p.Thr163=)
|
|
|
|
NM_000108.5(DLD):c.48T>C (p.His16=)
|
rs2031632982
|
|
|
NM_000108.5(DLD):c.499G>A (p.Ala167Thr)
|
rs2116221690
|
|
|
NM_000108.5(DLD):c.507C>A (p.Gly169=)
|
rs144351432
|
|
|
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
|
|
|
|
NM_000108.5(DLD):c.513T>A (p.Thr171=)
|
|
|
|
NM_000108.5(DLD):c.516G>A (p.Gln172=)
|
rs777748761
|
|
|
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
|
|
|
|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
|
|
|
NM_000108.5(DLD):c.552T>C (p.Gly184=)
|
|
|
|
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
|
|
|
|
NM_000108.5(DLD):c.582+11T>G
|
|
|
|
NM_000108.5(DLD):c.582+13C>A
|
|
|
|
NM_000108.5(DLD):c.582+16A>G
|
|
|
|
NM_000108.5(DLD):c.582+16_582+17insC
|
|
|
|
NM_000108.5(DLD):c.582+18T>C
|
|
|
|
NM_000108.5(DLD):c.582+18T>G
|
|
|
|
NM_000108.5(DLD):c.582+19T>G
|
|
|
|
NM_000108.5(DLD):c.582+2T>C
|
|
|
|
NM_000108.5(DLD):c.582+7A>G
|
|
|
|
NM_000108.5(DLD):c.582+7A>T
|
|
|
|
NM_000108.5(DLD):c.583-15_583-14del
|
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
|
|
NM_000108.5(DLD):c.583-8T>A
|
|
|
|
NM_000108.5(DLD):c.585A>T (p.Ile195=)
|
|
|
|
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
|
|
|
|
NM_000108.5(DLD):c.596C>A (p.Thr199Lys)
|
rs1336962180
|
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
|
NM_000108.5(DLD):c.615T>A (p.Gly205=)
|
|
|
|
NM_000108.5(DLD):c.627A>G (p.Leu209=)
|
|
|
|
NM_000108.5(DLD):c.630A>G (p.Lys210=)
|
|
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
|
NM_000108.5(DLD):c.636T>A (p.Val212=)
|
rs2116225767
|
|
|
NM_000108.5(DLD):c.647del (p.Met216fs)
|
|
|
|
NM_000108.5(DLD):c.654T>C (p.Val218=)
|
rs1584465590
|
|
|
NM_000108.5(DLD):c.660T>C (p.Gly220=)
|
rs2116225941
|
|
|
NM_000108.5(DLD):c.663A>G (p.Ala221=)
|
|
|
|
NM_000108.5(DLD):c.666A>G (p.Gly222=)
|
rs2116225961
|
|
|
NM_000108.5(DLD):c.66T>C (p.His22=)
|
rs2116162670
|
|
|
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
|
|
|
|
NM_000108.5(DLD):c.684+11T>A
|
|
|
|
NM_000108.5(DLD):c.684+20C>T
|
|
|
|
NM_000108.5(DLD):c.685-14T>C
|
|
|
|
NM_000108.5(DLD):c.685-14del
|
rs759170630
|
|
|
NM_000108.5(DLD):c.685-17_685-14del
|
|
|
|
NM_000108.5(DLD):c.685-18T>G
|
|
|
|
NM_000108.5(DLD):c.685-19T>C
|
|
|
|
NM_000108.5(DLD):c.685-20T>C
|
|
|
|
NM_000108.5(DLD):c.685-4G>A
|
rs1584471861
|
|
|
NM_000108.5(DLD):c.685-4G>T
|
rs1584471861
|
|
|
NM_000108.5(DLD):c.685-8_685-5del
|
rs2032245429
|
|
|
NM_000108.5(DLD):c.685-9_685-5del
|
|
|
|
NM_000108.5(DLD):c.699A>G (p.Gln233=)
|
rs1418720698
|
|
|
NM_000108.5(DLD):c.69C>T (p.Gly23=)
|
|
|
|
NM_000108.5(DLD):c.6G>A (p.Gln2=)
|
rs559880901
|
|
|
NM_000108.5(DLD):c.6G>C (p.Gln2His)
|
|
|
|
NM_000108.5(DLD):c.700A>C (p.Arg234=)
|
|
|
|
NM_000108.5(DLD):c.70C>T (p.Leu24=)
|
rs369442554
|
|
|
NM_000108.5(DLD):c.720A>G (p.Thr240=)
|
|
|
|
NM_000108.5(DLD):c.723A>G (p.Ala241=)
|
rs751488296
|
|
|
NM_000108.5(DLD):c.729A>G (p.Glu243=)
|
rs2032247071
|
|
|
NM_000108.5(DLD):c.72A>G (p.Leu24=)
|
rs769445579
|
|
|
NM_000108.5(DLD):c.744A>G (p.Val248=)
|
|
|
|
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
|
|
|
|
NM_000108.5(DLD):c.783del (p.Gln262fs)
|
rs1562919685
|
|
|
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_000108.5(DLD):c.789C>T (p.Arg263=)
|
|
|
|
NM_000108.5(DLD):c.79C>T (p.Leu27Phe)
|
rs2116162795
|
|
|
NM_000108.5(DLD):c.807G>A (p.Gly269=)
|
|
|
|
NM_000108.5(DLD):c.813del (p.Lys271fs)
|
|
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
|
NM_000108.5(DLD):c.828A>G (p.Thr276=)
|
rs2032250540
|
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
|
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
|
|
|
|
NM_000108.5(DLD):c.834T>C (p.Val278=)
|
rs1258445963
|
|
|
NM_000108.5(DLD):c.840T>A (p.Gly280=)
|
rs2116264411
|
|
|
NM_000108.5(DLD):c.84T>A (p.Ser28=)
|
|
|
|
NM_000108.5(DLD):c.84T>C (p.Ser28=)
|
|
|
|
NM_000108.5(DLD):c.854C>G (p.Ser285Ter)
|
|
|
|
NM_000108.5(DLD):c.866T>C (p.Ile289Thr)
|
rs2116264648
|
|
|
NM_000108.5(DLD):c.870T>C (p.Asp290=)
|
|
|
|
NM_000108.5(DLD):c.873T>C (p.Val291=)
|
|
|
|
NM_000108.5(DLD):c.875+11A>G
|
|
|
|
NM_000108.5(DLD):c.875+13C>A
|
|
|
|
NM_000108.5(DLD):c.875+14A>G
|
|
|
|
NM_000108.5(DLD):c.875+1G>T
|
rs1328820332
|
|
|
NM_000108.5(DLD):c.875+20T>C
|
|
|
|
NM_000108.5(DLD):c.875+9A>G
|
|
|
|
NM_000108.5(DLD):c.876-14T>C
|
|
|
|
NM_000108.5(DLD):c.876-19T>C
|
|
|
|
NM_000108.5(DLD):c.876-5T>A
|
|
|
|
NM_000108.5(DLD):c.876-6A>C
|
|
|
|
NM_000108.5(DLD):c.876-6A>G
|
rs199944006
|
|
|
NM_000108.5(DLD):c.879T>C (p.Ile293=)
|
rs2116269476
|
|
|
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
|
|
|
|
NM_000108.5(DLD):c.888T>C (p.Ala296=)
|
rs2032281375
|
|
|
NM_000108.5(DLD):c.897T>C (p.Gly299=)
|
rs2116269619
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
|
NM_000108.5(DLD):c.906A>G (p.Glu302=)
|
rs2116269710
|
|
|
NM_000108.5(DLD):c.911T>C (p.Ile304Thr)
|
|
|
|
NM_000108.5(DLD):c.918T>C (p.Cys306=)
|
rs1433041129
|
|
|
NM_000108.5(DLD):c.919G>A (p.Asp307Asn)
|
rs2032282601
|
|
|
NM_000108.5(DLD):c.924A>C (p.Val308=)
|
|
|
|
NM_000108.5(DLD):c.924A>G (p.Val308=)
|
|
|
|
NM_000108.5(DLD):c.93T>C (p.Pro31=)
|
rs1182818821
|
|
|
NM_000108.5(DLD):c.94C>T (p.Leu32=)
|
rs1241052092
|
|
|
NM_000108.5(DLD):c.954T>C (p.Phe318=)
|
rs2116270132
|
|
|
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
|
|
|
|
NM_000108.5(DLD):c.978G>A (p.Glu326=)
|
|
|
|
NM_000108.5(DLD):c.987dup (p.Glu330Ter)
|
|
|
|
NM_000108.5(DLD):c.988G>T (p.Glu330Ter)
|
|
|
|
NM_000108.5(DLD):c.991C>G (p.Leu331Val)
|
|
|
|
NM_000108.5(DLD):c.999C>G (p.Pro333=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.580_583+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-1G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
|
NM_000116.5(TAFAZZIN):c.778-63_778-51del
|
rs782249471
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
|
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)
|
|
|
|
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)
|
|
|
|
NM_000126.4(ETFA):c.120C>T (p.Thr40=)
|
|
|
|
NM_000126.4(ETFA):c.126T>G (p.Thr42=)
|
|
|
|
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)
|
|
|
|
NM_000126.4(ETFA):c.141T>G (p.Leu47=)
|
rs2141543772
|
|
|
NM_000126.4(ETFA):c.153G>A (p.Val51=)
|
rs2039810189
|
|
|
NM_000126.4(ETFA):c.156C>T (p.Ser52=)
|
rs2141543739
|
|
|
NM_000126.4(ETFA):c.15G>A (p.Ala5=)
|
rs1253564653
|
|
|
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)
|
rs1384386872
|
|
|
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)
|
rs1035217923
|
|
|
NM_000126.4(ETFA):c.165A>G (p.Val55=)
|
rs2039810025
|
|
|
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)
|
|
|
|
NM_000126.4(ETFA):c.177del (p.Lys59fs)
|
|
|
|
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)
|
|
|
|
NM_000126.4(ETFA):c.183C>T (p.Asp61=)
|
rs2141543697
|
|
|
NM_000126.4(ETFA):c.186+1G>A
|
rs2141543695
|
|
|
NM_000126.4(ETFA):c.186+7A>C
|
|
|
|
NM_000126.4(ETFA):c.186+8A>T
|
|
|
|
NM_000126.4(ETFA):c.186+9T>A
|
rs1596224309
|
|
|
NM_000126.4(ETFA):c.186+9T>C
|
rs1596224309
|
|
|
NM_000126.4(ETFA):c.187-13C>A
|
|
|
|
NM_000126.4(ETFA):c.187-14T>C
|
|
|
|
NM_000126.4(ETFA):c.187-17T>G
|
|
|
|
NM_000126.4(ETFA):c.187-18C>T
|
|
|
|
NM_000126.4(ETFA):c.187-3T>C
|
|
|
|
NM_000126.4(ETFA):c.189G>A (p.Val63=)
|
rs1179483198
|
|
|
NM_000126.4(ETFA):c.201C>G (p.Leu67=)
|
rs1250916782
|
|
|
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
|
|
|
|
NM_000126.4(ETFA):c.210A>G (p.Val70=)
|
rs1274661227
|
|
|
NM_000126.4(ETFA):c.210A>T (p.Val70=)
|
|
|
|
NM_000126.4(ETFA):c.213A>G (p.Ala71=)
|
|
|
|
NM_000126.4(ETFA):c.21G>A (p.Pro7=)
|
rs903002200
|
|
|
NM_000126.4(ETFA):c.222A>G (p.Ala74=)
|
rs2141540424
|
|
|
NM_000126.4(ETFA):c.228T>C (p.Val76=)
|
rs1277270558
|
|
|
NM_000126.4(ETFA):c.240G>A (p.Gln80=)
|
rs2141540395
|
|
|
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)
|
|
|
|
NM_000126.4(ETFA):c.24G>A (p.Gly8=)
|
rs2141564548
|
|
|
NM_000126.4(ETFA):c.24G>C (p.Gly8=)
|
rs2141564548
|
|
|
NM_000126.4(ETFA):c.261A>G (p.Leu87=)
|
|
|
|
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)
|
rs1400343293
|
|
|
NM_000126.4(ETFA):c.264T>G (p.Leu88=)
|
rs1405829462
|
|
|
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)
|
rs2039778041
|
|
|
NM_000126.4(ETFA):c.268+11C>G
|
|
|
|
NM_000126.4(ETFA):c.268+12C>T
|
|
|
|
NM_000126.4(ETFA):c.268+14G>A
|
|
|
|
NM_000126.4(ETFA):c.268+15T>C
|
|
|
|
NM_000126.4(ETFA):c.268+18A>G
|
rs757775846
|
|
|
NM_000126.4(ETFA):c.268+1G>A
|
|
|
|
NM_000126.4(ETFA):c.269-15G>T
|
|
|
|
NM_000126.4(ETFA):c.269-19A>G
|
|
|
|
NM_000126.4(ETFA):c.269-2A>G
|
|
|
|
NM_000126.4(ETFA):c.269-5C>A
|
|
|
|
NM_000126.4(ETFA):c.269-8A>G
|
rs1440046169
|
|
|
NM_000126.4(ETFA):c.282A>G (p.Pro94=)
|
|
|
|
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
|
|
|
|
NM_000126.4(ETFA):c.285del (p.Ile96fs)
|
rs2039775781
|
|
|
NM_000126.4(ETFA):c.288T>C (p.Ile96=)
|
|
|
|
NM_000126.4(ETFA):c.294A>C (p.Ala98=)
|
rs1458002715
|
|
|
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)
|
|
|
|
NM_000126.4(ETFA):c.297T>C (p.Thr99=)
|
rs2141540022
|
|
|
NM_000126.4(ETFA):c.297T>G (p.Thr99=)
|
|
|
|
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
|
|
|
|
NM_000126.4(ETFA):c.300G>T (p.Gln100His)
|
rs948361766
|
|
|
NM_000126.4(ETFA):c.303G>A (p.Lys101=)
|
|
|
|
NM_000126.4(ETFA):c.30C>G (p.Leu10=)
|
rs1042921735
|
|
|
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
|
|
|
|
NM_000126.4(ETFA):c.319_322del (p.His107fs)
|
rs866218814
|
|
|
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)
|
rs866218814
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NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
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NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)
|
rs1414148078
|
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NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)
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NM_000126.4(ETFA):c.324C>A (p.Ile108=)
|
rs753701756
|
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NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)
|
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NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)
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NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)
|
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NM_000126.4(ETFA):c.33G>C (p.Arg11=)
|
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NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)
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NM_000126.4(ETFA):c.348A>G (p.Gly116=)
|
rs2141539896
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NM_000126.4(ETFA):c.351+12G>A
|
rs2039773989
|
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NM_000126.4(ETFA):c.351+18G>A
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NM_000126.4(ETFA):c.351+1G>A
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NM_000126.4(ETFA):c.351+20G>A
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NM_000126.4(ETFA):c.351+2T>C
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NM_000126.4(ETFA):c.351+8G>C
|
rs374723922
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NM_000126.4(ETFA):c.351+9G>A
|
rs2039774067
|
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NM_000126.4(ETFA):c.352-16C>G
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NM_000126.4(ETFA):c.352-19C>T
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NM_000126.4(ETFA):c.352-1G>A
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NM_000126.4(ETFA):c.352-2A>G
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NM_000126.4(ETFA):c.352-7C>T
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NM_000126.4(ETFA):c.358T>C (p.Leu120=)
|
rs2141533653
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NM_000126.4(ETFA):c.363C>T (p.Pro121=)
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NM_000126.4(ETFA):c.366A>G (p.Arg122=)
|
rs2039718120
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NM_000126.4(ETFA):c.369A>T (p.Val123=)
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NM_000126.4(ETFA):c.369dup (p.Ala124fs)
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NM_000126.4(ETFA):c.36G>A (p.Arg12=)
|
rs1299355915
|
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NM_000126.4(ETFA):c.372A>C (p.Ala124=)
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NM_000126.4(ETFA):c.37dup (p.Ala13fs)
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NM_000126.4(ETFA):c.384G>A (p.Glu128=)
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NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)
|
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NM_000126.4(ETFA):c.39+11A>C
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NM_000126.4(ETFA):c.39+14G>T
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NM_000126.4(ETFA):c.39+17A>G
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NM_000126.4(ETFA):c.39+18del
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NM_000126.4(ETFA):c.39+19G>A
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NM_000126.4(ETFA):c.39+1G>A
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NM_000126.4(ETFA):c.39+1G>T
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NM_000126.4(ETFA):c.39+7C>T
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NM_000126.4(ETFA):c.39+8C>G
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NM_000126.4(ETFA):c.39+9G>A
|
rs2039995773
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NM_000126.4(ETFA):c.39+9G>C
|
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NM_000126.4(ETFA):c.390C>T (p.Ala130=)
|
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NM_000126.4(ETFA):c.40-10C>T
|
rs546196896
|
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NM_000126.4(ETFA):c.40-16T>G
|
rs1402206099
|
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NM_000126.4(ETFA):c.40-17C>A
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NM_000126.4(ETFA):c.40-17_40-8del
|
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NM_000126.4(ETFA):c.40-19T>C
|
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NM_000126.4(ETFA):c.40-19del
|
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NM_000126.4(ETFA):c.40-19dup
|
rs755841159
|
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NM_000126.4(ETFA):c.40-20_40-19dup
|
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NM_000126.4(ETFA):c.40-21_40-18dup
|
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NM_000126.4(ETFA):c.40-21_40-19dup
|
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NM_000126.4(ETFA):c.40-8C>T
|
rs1380119459
|
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NM_000126.4(ETFA):c.405C>G (p.Ile135Met)
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NM_000126.4(ETFA):c.423T>C (p.Pro141=)
|
rs2141533520
|
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NM_000126.4(ETFA):c.426C>T (p.Asp142=)
|
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NM_000126.4(ETFA):c.427dup (p.Thr143fs)
|
rs2039717357
|
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NM_000126.4(ETFA):c.429A>C (p.Thr143=)
|
rs2141533504
|
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NM_000126.4(ETFA):c.429A>G (p.Thr143=)
|
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NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)
|
rs755055339
|
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NM_000126.4(ETFA):c.435G>A (p.Val145=)
|
rs2141533487
|
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NM_000126.4(ETFA):c.438A>G (p.Arg146=)
|
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NM_000126.4(ETFA):c.441T>A (p.Thr147=)
|
rs2141533484
|
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NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)
|
rs1047426224
|
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NM_000126.4(ETFA):c.451+11A>C
|
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NM_000126.4(ETFA):c.451+12A>G
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NM_000126.4(ETFA):c.451+14_451+17del
|
rs2039716961
|
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NM_000126.4(ETFA):c.451+15A>G
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NM_000126.4(ETFA):c.451+17G>T
|
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NM_000126.4(ETFA):c.451+19T>C
|
rs1301022193
|
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NM_000126.4(ETFA):c.451+1G>A
|
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NM_000126.4(ETFA):c.452-13T>A
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NM_000126.4(ETFA):c.452-17T>C
|
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NM_000126.4(ETFA):c.452-2A>G
|
rs2141531787
|
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NM_000126.4(ETFA):c.452-7G>A
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NM_000126.4(ETFA):c.452-7G>T
|
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NM_000126.4(ETFA):c.452-9A>G
|
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|
NM_000126.4(ETFA):c.456T>C (p.Asn152=)
|
rs2141531775
|
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|
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)
|
rs1286837897
|
|
|
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
|
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NM_000126.4(ETFA):c.462A>C (p.Leu154=)
|
rs2039705956
|
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NM_000126.4(ETFA):c.462A>G (p.Leu154=)
|
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NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)
|
rs199597352
|
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NM_000126.4(ETFA):c.468A>C (p.Thr156=)
|
rs775043427
|
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NM_000126.4(ETFA):c.471G>A (p.Val157=)
|
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|
NM_000126.4(ETFA):c.478del (p.Asp160fs)
|
rs2039705645
|
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NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)
|
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NM_000126.4(ETFA):c.495G>A (p.Val165=)
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NM_000126.4(ETFA):c.495_496del (p.Ser167fs)
|
rs1298299792
|
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NM_000126.4(ETFA):c.513A>G (p.Thr171=)
|
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NM_000126.4(ETFA):c.51A>G (p.Leu17=)
|
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|
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)
|
rs1396125343
|
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NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)
|
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|
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)
|
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|
NM_000126.4(ETFA):c.540C>G (p.Gly180=)
|
rs146133196
|
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NM_000126.4(ETFA):c.540C>T (p.Gly180=)
|
rs146133196
|
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|
NM_000126.4(ETFA):c.549C>T (p.Ala183=)
|
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|
NM_000126.4(ETFA):c.54A>G (p.Arg18=)
|
rs2141543902
|
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NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
|
|
|
|
NM_000126.4(ETFA):c.558A>G (p.Glu186=)
|
rs2141531548
|
|
|
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)
|
rs2141531541
|
|
|
NM_000126.4(ETFA):c.560del (p.Lys187fs)
|
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NM_000126.4(ETFA):c.562+10C>G
|
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NM_000126.4(ETFA):c.562+11A>G
|
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NM_000126.4(ETFA):c.562+13T>G
|
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|
NM_000126.4(ETFA):c.562+15G>C
|
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|
|
NM_000126.4(ETFA):c.562+16G>T
|
rs2141531505
|
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NM_000126.4(ETFA):c.562+18G>T
|
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NM_000126.4(ETFA):c.562+8T>C
|
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NM_000126.4(ETFA):c.562+8T>G
|
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NM_000126.4(ETFA):c.563-11A>T
|
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NM_000126.4(ETFA):c.563-4G>A
|
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NM_000126.4(ETFA):c.563-5T>C
|
rs2141530823
|
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|
NM_000126.4(ETFA):c.563-6A>G
|
rs2141530825
|
|
|
NM_000126.4(ETFA):c.563-8G>A
|
rs777484688
|
|
|
NM_000126.4(ETFA):c.563-9T>C
|
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|
NM_000126.4(ETFA):c.579A>G (p.Pro193=)
|
rs936157234
|
|
|
NM_000126.4(ETFA):c.591A>C (p.Ser197=)
|
rs1327483238
|
|
|
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)
|
rs2141530756
|
|
|
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
|
|
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|
NM_000126.4(ETFA):c.594G>A (p.Glu198=)
|
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|
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
|
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|
NM_000126.4(ETFA):c.603C>T (p.Asp201=)
|
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|
NM_000126.4(ETFA):c.624del (p.Arg209fs)
|
rs1596218695
|
|
|
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)
|
rs199763682
|
|
|
NM_000126.4(ETFA):c.630A>G (p.Pro210=)
|
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|
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)
|
|
|
|
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)
|
rs1596224387
|
|
|
NM_000126.4(ETFA):c.657A>G (p.Val219=)
|
|
|
|
NM_000126.4(ETFA):c.658_664+3del
|
|
|
|
NM_000126.4(ETFA):c.660T>C (p.Ser220=)
|
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|
|
NM_000126.4(ETFA):c.664+16A>C
|
|
|
|
NM_000126.4(ETFA):c.664+1G>A
|
rs2039698086
|
|
|
NM_000126.4(ETFA):c.664+20T>C
|
|
|
|
NM_000126.4(ETFA):c.664+8A>T
|
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|
|
NM_000126.4(ETFA):c.665-12T>A
|
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|
NM_000126.4(ETFA):c.665-13C>G
|
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|
|
NM_000126.4(ETFA):c.665-14T>C
|
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|
NM_000126.4(ETFA):c.665-15A>G
|
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|
|
NM_000126.4(ETFA):c.665-16dup
|
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|
|
NM_000126.4(ETFA):c.665-17T>C
|
|
|
|
NM_000126.4(ETFA):c.665-17del
|
rs144403864
|
|
|
NM_000126.4(ETFA):c.665-17dup
|
rs144403864
|
|
|
NM_000126.4(ETFA):c.665-18T>C
|
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|
|
NM_000126.4(ETFA):c.665-4T>C
|
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|
|
NM_000126.4(ETFA):c.667C>A (p.Arg223=)
|
rs769976586
|
|
|
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)
|
|
|
|
NM_000126.4(ETFA):c.66C>T (p.Thr22=)
|
rs370375322
|
|
|
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)
|
rs1390694827
|
|
|
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)
|
|
|
|
NM_000126.4(ETFA):c.687G>A (p.Glu229=)
|
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|
|
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)
|
rs754050501
|
|
|
NM_000126.4(ETFA):c.696G>A (p.Lys232=)
|
|
|
|
NM_000126.4(ETFA):c.69G>A (p.Leu23=)
|
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|
|
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)
|
|
|
|
NM_000126.4(ETFA):c.700T>C (p.Leu234=)
|
|
|
|
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
|
rs775620228
|
|
|
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)
|
rs2141528171
|
|
|
NM_000126.4(ETFA):c.721C>T (p.Leu241=)
|
|
|
|
NM_000126.4(ETFA):c.723A>G (p.Leu241=)
|
rs2141528126
|
|
|
NM_000126.4(ETFA):c.733+10T>C
|
rs1298665818
|
|
|
NM_000126.4(ETFA):c.733+16T>A
|
|
|
|
NM_000126.4(ETFA):c.733+18A>C
|
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|
|
NM_000126.4(ETFA):c.733+8T>A
|
|
|
|
NM_000126.4(ETFA):c.733+8T>C
|
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|
|
NM_000126.4(ETFA):c.733+9A>G
|
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|
|
NM_000126.4(ETFA):c.734-10T>C
|
rs2141516395
|
|
|
NM_000126.4(ETFA):c.734-17A>G
|
|
|
|
NM_000126.4(ETFA):c.734-1_744del
|
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|
NM_000126.4(ETFA):c.734-2A>G
|
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|
|
NM_000126.4(ETFA):c.734-8C>T
|
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|
NM_000126.4(ETFA):c.734-9del
|
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|
|
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)
|
rs1353938548
|
|
|
NM_000126.4(ETFA):c.750T>C (p.Ala250=)
|
|
|
|
NM_000126.4(ETFA):c.765C>A (p.Gly255=)
|
rs2141516311
|
|
|
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)
|
|
|
|
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)
|
rs1389901296
|
|
|
NM_000126.4(ETFA):c.780C>T (p.Asp260=)
|
|
|
|
NM_000126.4(ETFA):c.786A>G (p.Gln262=)
|
|
|
|
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)
|
rs757409121
|
|
|
NM_000126.4(ETFA):c.798G>A (p.Thr266=)
|
rs764478797
|
|
|
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)
|
rs2141543849
|
|
|
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)
|
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
|
NM_000126.4(ETFA):c.810A>G (p.Val270=)
|
|
|
|
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)
|
|
|
|
NM_000126.4(ETFA):c.813A>C (p.Ala271=)
|
rs2141516230
|
|
|
NM_000126.4(ETFA):c.816+13A>G
|
|
|
|
NM_000126.4(ETFA):c.816+9T>A
|
rs2141516215
|
|
|
NM_000126.4(ETFA):c.817-12_817-11del
|
|
|
|
NM_000126.4(ETFA):c.817-16A>G
|
rs1176510084
|
|
|
NM_000126.4(ETFA):c.817-2A>G
|
|
|
|
NM_000126.4(ETFA):c.817-5T>A
|
|
|
|
NM_000126.4(ETFA):c.817-7A>G
|
|
|
|
NM_000126.4(ETFA):c.817-8T>G
|
|
|
|
NM_000126.4(ETFA):c.817-8del
|
|
|
|
NM_000126.4(ETFA):c.819A>G (p.Glu273=)
|
|
|
|
NM_000126.4(ETFA):c.81G>A (p.Glu27=)
|
|
|
|
NM_000126.4(ETFA):c.822T>A (p.Leu274=)
|
rs2141463797
|
|
|
NM_000126.4(ETFA):c.822T>C (p.Leu274=)
|
rs2141463797
|
|
|
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
|
|
|
|
NM_000126.4(ETFA):c.837A>C (p.Gly279=)
|
rs772717284
|
|
|
NM_000126.4(ETFA):c.837A>G (p.Gly279=)
|
rs772717284
|
|
|
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)
|
|
|
|
NM_000126.4(ETFA):c.84T>C (p.His28=)
|
|
|
|
NM_000126.4(ETFA):c.864T>G (p.Ala288=)
|
|
|
|
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)
|
|
|
|
NM_000126.4(ETFA):c.867G>A (p.Gly289=)
|
|
|
|
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)
|
rs1184566559
|
|
|
NM_000126.4(ETFA):c.882+10C>T
|
rs2039064081
|
|
|
NM_000126.4(ETFA):c.882+14A>T
|
|
|
|
NM_000126.4(ETFA):c.882+15G>A
|
|
|
|
NM_000126.4(ETFA):c.882+3A>G
|
|
|
|
NM_000126.4(ETFA):c.882+6T>G
|
rs746311782
|
|
|
NM_000126.4(ETFA):c.882+7G>A
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.882+7G>C
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.882+7G>T
|
rs753882653
|
|
|
NM_000126.4(ETFA):c.883-17_883-16del
|
|
|
|
NM_000126.4(ETFA):c.883-18T>C
|
|
|
|
NM_000126.4(ETFA):c.883-18T>G
|
|
|
|
NM_000126.4(ETFA):c.883-4A>G
|
rs2142108087
|
|
|
NM_000126.4(ETFA):c.883-5C>T
|
|
|
|
NM_000126.4(ETFA):c.883-6T>C
|
rs2142108091
|
|
|
NM_000126.4(ETFA):c.883-9A>G
|
rs773894937
|
|
|
NM_000126.4(ETFA):c.883-9dup
|
rs2142108094
|
|
|
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)
|
rs2039810890
|
|
|
NM_000126.4(ETFA):c.891G>C (p.Val297=)
|
rs2142108075
|
|
|
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)
|
rs2141564581
|
|
|
NM_000126.4(ETFA):c.909A>G (p.Pro303=)
|
rs2142108061
|
|
|
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)
|
|
|
|
NM_000126.4(ETFA):c.927A>G (p.Gln309=)
|
|
|
|
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)
|
|
|
|
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)
|
|
|
|
NM_000126.4(ETFA):c.942A>C (p.Gly314=)
|
rs1253828046
|
|
|
NM_000126.4(ETFA):c.945A>C (p.Ile315=)
|
rs2142108038
|
|
|
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)
|
rs1567195832
|
|
|
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)
|
rs1567195832
|
|
|
NM_000126.4(ETFA):c.955T>C (p.Leu319=)
|
|
|
|
NM_000126.4(ETFA):c.960T>C (p.Phe320=)
|
|
|
|
NM_000126.4(ETFA):c.963+14G>A
|
|
|
|
NM_000126.4(ETFA):c.963+14G>C
|
rs1369553684
|
|
|
NM_000126.4(ETFA):c.963+17A>G
|
|
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
|
NM_000126.4(ETFA):c.963+8G>A
|
|
|
|
NM_000126.4(ETFA):c.963+9del
|
rs2038998662
|
|
|
NM_000126.4(ETFA):c.964-10T>C
|
rs1223890959
|
|
|
NM_000126.4(ETFA):c.964-18T>G
|
|
|
|
NM_000126.4(ETFA):c.964-20C>G
|
rs570818940
|
|
|
NM_000126.4(ETFA):c.964-20C>T
|
|
|
|
NM_000126.4(ETFA):c.964-4G>T
|
|
|
|
NM_000126.4(ETFA):c.972T>C (p.Pro324=)
|
rs1351662991
|
|
|
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)
|
rs2038898400
|
|
|
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)
|
|
|
|
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)
|
|
|
|
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)
|
|
|
|
NM_000126.4(ETFA):c.99A>G (p.Leu33=)
|
|
|
|
NM_000137.4(FAH):c.1003G>A (p.Val335Ile)
|
|
|
|
NM_000137.4(FAH):c.1013G>A (p.Cys338Tyr)
|
|
|
|
NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)
|
|
|
|
NM_000137.4(FAH):c.1018C>T (p.Leu340=)
|
|
|
|
NM_000137.4(FAH):c.1025dup (p.Asp344fs)
|
rs2041318487
|
|
|
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)
|
rs970505762
|
|
|
NM_000137.4(FAH):c.1029G>T (p.Gly343=)
|
|
|
|
NM_000137.4(FAH):c.102G>A (p.Val34=)
|
|
|
|
NM_000137.4(FAH):c.1030del (p.Asp344fs)
|
rs747546798
|
|
|
NM_000137.4(FAH):c.1033del (p.Leu345fs)
|
|
|
|
NM_000137.4(FAH):c.1036C>T (p.Leu346=)
|
|
|
|
NM_000137.4(FAH):c.1044T>C (p.Ser348=)
|
rs2142107851
|
|
|
NM_000137.4(FAH):c.1059G>A (p.Gly353=)
|
|
|
|
NM_000137.4(FAH):c.1061C>T (p.Pro354Leu)
|
rs143326948
|
|
|
NM_000137.4(FAH):c.1062+11G>C
|
|
|
|
NM_000137.4(FAH):c.1062+15G>C
|
|
|
|
NM_000137.4(FAH):c.1062+16C>T
|
|
|
|
NM_000137.4(FAH):c.1062+18C>T
|
|
|
|
NM_000137.4(FAH):c.1062G>A (p.Pro354=)
|
rs767329352
|
|
|
NM_000137.4(FAH):c.1063-10T>C
|
|
|
|
NM_000137.4(FAH):c.1063-12C>T
|
|
|
|
NM_000137.4(FAH):c.1063-18C>T
|
|
|
|
NM_000137.4(FAH):c.1063-1G>A
|
rs2041326700
|
|
|
NM_000137.4(FAH):c.1063-2A>G
|
rs1555442385
|
|
|
NM_000137.4(FAH):c.1063-9G>T
|
rs866653704
|
|
|
NM_000137.4(FAH):c.1068A>C (p.Pro356=)
|
rs2142108569
|
|
|
NM_000137.4(FAH):c.1068A>G (p.Pro356=)
|
rs2142108569
|
|
|
NM_000137.4(FAH):c.1080C>T (p.Gly360=)
|
|
|
|
NM_000137.4(FAH):c.1087T>C (p.Leu363=)
|
|
|
|
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
|
|
|
|
NM_000137.4(FAH):c.1098G>T (p.Ser366=)
|
|
|
|
NM_000137.4(FAH):c.1124T>C (p.Leu375Pro)
|
|
|
|
NM_000137.4(FAH):c.1134T>G (p.Gly378=)
|
|
|
|
NM_000137.4(FAH):c.1140C>T (p.Thr380=)
|
rs2142108657
|
|
|
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly)
|
rs121965077
|
|
|
NM_000137.4(FAH):c.1146G>A (p.Lys382=)
|
rs2142108665
|
|
|
NM_000137.4(FAH):c.1152G>T (p.Leu384=)
|
rs886051497
|
|
|
NM_000137.4(FAH):c.1161G>A (p.Gly387=)
|
rs2142108682
|
|
|
NM_000137.4(FAH):c.1164T>C (p.Asp388=)
|
|
|
|
NM_000137.4(FAH):c.1180+10G>T
|
|
|
|
NM_000137.4(FAH):c.1180+18C>G
|
|
|
|
NM_000137.4(FAH):c.1180+1G>A
|
rs980415517
|
|
|
NM_000137.4(FAH):c.1180+7G>T
|
|
|
|
NM_000137.4(FAH):c.1180+9T>G
|
|
|
|
NM_000137.4(FAH):c.1181-10T>C
|
|
|
|
NM_000137.4(FAH):c.1181-18T>G
|
|
|
|
NM_000137.4(FAH):c.1181-7G>A
|
rs750983382
|
|
|
NM_000137.4(FAH):c.1181-9C>G
|
rs2142112575
|
|
|
NM_000137.4(FAH):c.1181G>A (p.Gly394Glu)
|
|
|
|
NM_000137.4(FAH):c.1182G>A (p.Gly394=)
|
rs2142112592
|
|
|
NM_000137.4(FAH):c.1182G>C (p.Gly394=)
|
|
|
|
NM_000137.4(FAH):c.1185C>T (p.Tyr395=)
|
rs2142112598
|
|
|
NM_000137.4(FAH):c.1203C>A (p.Tyr401Ter)
|
rs2041368952
|
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
|
NM_000137.4(FAH):c.1206C>T (p.Arg402=)
|
rs2142112638
|
|
|
NM_000137.4(FAH):c.1209C>A (p.Ile403=)
|
|
|
|
NM_000137.4(FAH):c.120C>T (p.Ile40=)
|
|
|
|
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg)
|
rs1297118863
|
|
|
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His)
|
rs1567123622
|
|
|
NM_000137.4(FAH):c.1221G>A (p.Gln407=)
|
|
|
|
NM_000137.4(FAH):c.122T>C (p.Leu41Pro)
|
rs2041114940
|
|
|
NM_000137.4(FAH):c.1235T>A (p.Val412Glu)
|
rs2142112670
|
|
|
NM_000137.4(FAH):c.1239G>T (p.Leu413=)
|
rs2142112674
|
|
|
NM_000137.4(FAH):c.1245T>G (p.Ala415=)
|
rs2142112683
|
|
|
NM_000137.4(FAH):c.128T>C (p.Leu43Pro)
|
|
|
|
NM_000137.4(FAH):c.129C>G (p.Leu43=)
|
|
|
|
NM_000137.4(FAH):c.129C>T (p.Leu43=)
|
|
|
|
NM_000137.4(FAH):c.132C>T (p.Ser44=)
|
|
|
|
NM_000137.4(FAH):c.138C>T (p.Ile46=)
|
rs2142090778
|
|
|
NM_000137.4(FAH):c.147C>G (p.Leu49=)
|
rs886051496
|
|
|
NM_000137.4(FAH):c.14del (p.Pro5fs)
|
rs1057517341
|
|
|
NM_000137.4(FAH):c.15G>A (p.Pro5=)
|
|
|
|
NM_000137.4(FAH):c.162C>T (p.Val54=)
|
|
|
|
NM_000137.4(FAH):c.165C>G (p.Leu55=)
|
|
|
|
NM_000137.4(FAH):c.189T>C (p.Asn63=)
|
|
|
|
NM_000137.4(FAH):c.191del (p.Gln64fs)
|
rs2142090831
|
|
|
NM_000137.4(FAH):c.192+10T>C
|
rs2142090839
|
|
|
NM_000137.4(FAH):c.192+13G>T
|
|
|
|
NM_000137.4(FAH):c.192+17C>T
|
|
|
|
NM_000137.4(FAH):c.192+19A>C
|
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
|
NM_000137.4(FAH):c.192+9T>C
|
rs1386784352
|
|
|
NM_000137.4(FAH):c.193-15_193-14del
|
|
|
|
NM_000137.4(FAH):c.193-8G>T
|
rs2142091970
|
|
|
NM_000137.4(FAH):c.1A>C (p.Met1Leu)
|
rs1057517972
|
|
|
NM_000137.4(FAH):c.201C>T (p.Leu67=)
|
rs779516322
|
|
|
NM_000137.4(FAH):c.207C>T (p.Ser69=)
|
|
|
|
NM_000137.4(FAH):c.210C>T (p.Phe70=)
|
rs2142091985
|
|
|
NM_000137.4(FAH):c.21C>T (p.Ala7=)
|
|
|
|
NM_000137.4(FAH):c.221del (p.Gly74fs)
|
rs2041131954
|
|
|
NM_000137.4(FAH):c.224A>G (p.Gln75Arg)
|
|
|
|
NM_000137.4(FAH):c.23A>C (p.Glu8Ala)
|
rs2041065243
|
|
|
NM_000137.4(FAH):c.249G>A (p.Val83=)
|
rs370095143
|
|
|
NM_000137.4(FAH):c.252C>T (p.Phe84=)
|
rs2041132568
|
|
|
NM_000137.4(FAH):c.253T>C (p.Leu85=)
|
rs2142092035
|
|
|
NM_000137.4(FAH):c.258G>A (p.Gln86=)
|
|
|
|
NM_000137.4(FAH):c.268T>A (p.Ser90Thr)
|
|
|
|
NM_000137.4(FAH):c.272T>G (p.Val91Gly)
|
rs1344024365
|
|
|
NM_000137.4(FAH):c.294T>C (p.Asp98=)
|
rs1413778856
|
|
|
NM_000137.4(FAH):c.295G>A (p.Asp99Asn)
|
rs1325951062
|
|
|
NM_000137.4(FAH):c.297C>T (p.Asp99=)
|
rs1595890511
|
|
|
NM_000137.4(FAH):c.306T>C (p.Leu102=)
|
rs2041133609
|
|
|
NM_000137.4(FAH):c.307C>A (p.Arg103=)
|
|
|
|
NM_000137.4(FAH):c.307C>T (p.Arg103Trp)
|
|
|
|
NM_000137.4(FAH):c.309G>A (p.Arg103=)
|
rs771117713
|
|
|
NM_000137.4(FAH):c.30C>T (p.Ser10=)
|
rs1051057226
|
|
|
NM_000137.4(FAH):c.312G>A (p.Lys104=)
|
rs1203041732
|
|
|
NM_000137.4(FAH):c.314+11C>G
|
|
|
|
NM_000137.4(FAH):c.314+11C>T
|
|
|
|
NM_000137.4(FAH):c.314+12G>A
|
|
|
|
NM_000137.4(FAH):c.314+12G>T
|
|
|
|
NM_000137.4(FAH):c.314+14G>T
|
|
|
|
NM_000137.4(FAH):c.314+18A>C
|
|
|
|
NM_000137.4(FAH):c.314+18A>T
|
|
|
|
NM_000137.4(FAH):c.314+20del
|
|
|
|
NM_000137.4(FAH):c.315-11C>T
|
|
|
|
NM_000137.4(FAH):c.315-12T>C
|
|
|
|
NM_000137.4(FAH):c.315-12T>G
|
|
|
|
NM_000137.4(FAH):c.315-13T>A
|
|
|
|
NM_000137.4(FAH):c.315-7G>A
|
|
|
|
NM_000137.4(FAH):c.315-9G>C
|
|
|
|
NM_000137.4(FAH):c.318A>C (p.Ala106=)
|
|
|
|
NM_000137.4(FAH):c.325del (p.Ser109fs)
|
|
|
|
NM_000137.4(FAH):c.328C>T (p.Gln110Ter)
|
rs754444882
|
|
|
NM_000137.4(FAH):c.336T>A (p.Ser112=)
|
|
|
|
NM_000137.4(FAH):c.342G>A (p.Thr114=)
|
rs773312072
|
|
|
NM_000137.4(FAH):c.342G>C (p.Thr114=)
|
|
|
|
NM_000137.4(FAH):c.348C>A (p.His116Gln)
|
|
|
|
NM_000137.4(FAH):c.348C>T (p.His116=)
|
|
|
|
NM_000137.4(FAH):c.34T>C (p.Phe12Leu)
|
|
|
|
NM_000137.4(FAH):c.354del (p.Ala119fs)
|
rs2041138762
|
|
|
NM_000137.4(FAH):c.357C>T (p.Ala119=)
|
rs2142092612
|
|
|
NM_000137.4(FAH):c.364+10G>C
|
|
|
|
NM_000137.4(FAH):c.364+12C>T
|
|
|
|
NM_000137.4(FAH):c.364+15T>C
|
|
|
|
NM_000137.4(FAH):c.364+18A>T
|
|
|
|
NM_000137.4(FAH):c.364+19C>G
|
|
|
|
NM_000137.4(FAH):c.364+19C>T
|
|
|
|
NM_000137.4(FAH):c.364+2T>C
|
rs1595890740
|
|
|
NM_000137.4(FAH):c.364+2T>G
|
rs1595890740
|
|
|
NM_000137.4(FAH):c.364+7G>T
|
|
|
|
NM_000137.4(FAH):c.364+9A>G
|
|
|
|
NM_000137.4(FAH):c.365-10del
|
|
|
|
NM_000137.4(FAH):c.365-11T>C
|
|
|
|
NM_000137.4(FAH):c.365-12T>C
|
|
|
|
NM_000137.4(FAH):c.365-15G>A
|
|
|
|
NM_000137.4(FAH):c.365-17G>T
|
|
|
|
NM_000137.4(FAH):c.365-18T>G
|
|
|
|
NM_000137.4(FAH):c.365-2A>G
|
|
|
|
NM_000137.4(FAH):c.365-2_399dup
|
|
|
|
NM_000137.4(FAH):c.365-4G>A
|
rs2041155157
|
|
|
NM_000137.4(FAH):c.365-5T>C
|
|
|
|
NM_000137.4(FAH):c.365-8C>G
|
|
|
|
NM_000137.4(FAH):c.365-9C>A
|
|
|
|
NM_000137.4(FAH):c.365-9C>T
|
|
|
|
NM_000137.4(FAH):c.369C>A (p.Asp123Glu)
|
|
|
|
NM_000137.4(FAH):c.379_380dup (p.Tyr128fs)
|
|
|
|
NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
|
|
|
|
NM_000137.4(FAH):c.386C>T (p.Ser129Phe)
|
|
|
|
NM_000137.4(FAH):c.38C>T (p.Pro13Leu)
|
rs2142086863
|
|
|
NM_000137.4(FAH):c.395A>G (p.Gln132Arg)
|
|
|
|
NM_000137.4(FAH):c.396G>A (p.Gln132=)
|
|
|
|
NM_000137.4(FAH):c.402T>G (p.Ala134=)
|
|
|
|
NM_000137.4(FAH):c.414A>G (p.Gly138=)
|
rs2142093995
|
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
|
NM_000137.4(FAH):c.441G>T (p.Ala147=)
|
rs141863249
|
|
|
NM_000137.4(FAH):c.455+10G>A
|
|
|
|
NM_000137.4(FAH):c.455+12G>A
|
|
|
|
NM_000137.4(FAH):c.455+18T>C
|
|
|
|
NM_000137.4(FAH):c.455+19G>A
|
|
|
|
NM_000137.4(FAH):c.455+1G>A
|
|
|
|
NM_000137.4(FAH):c.455+3A>T
|
|
|
|
NM_000137.4(FAH):c.455+6_455+10del
|
|
|
|
NM_000137.4(FAH):c.455+9T>C
|
rs531129429
|
|
|
NM_000137.4(FAH):c.455G>A (p.Trp152Ter)
|
rs1057516679
|
|
|
NM_000137.4(FAH):c.456-10C>G
|
|
|
|
NM_000137.4(FAH):c.456-10C>T
|
rs2142097863
|
|
|
NM_000137.4(FAH):c.456-14C>A
|
|
|
|
NM_000137.4(FAH):c.456-1G>A
|
|
|
|
NM_000137.4(FAH):c.456-2A>G
|
rs1555441251
|
|
|
NM_000137.4(FAH):c.456-4T>G
|
|
|
|
NM_000137.4(FAH):c.456G>A (p.Trp152Ter)
|
rs370686447
|
|
|
NM_000137.4(FAH):c.457C>T (p.Leu153=)
|
rs2142097876
|
|
|
NM_000137.4(FAH):c.462C>T (p.His154=)
|
|
|
|
NM_000137.4(FAH):c.480T>C (p.His160=)
|
rs2041209431
|
|
|
NM_000137.4(FAH):c.484del (p.Arg162fs)
|
rs2142097906
|
|
|
NM_000137.4(FAH):c.48C>T (p.Asn16=)
|
rs1256559961
|
|
|
NM_000137.4(FAH):c.494C>G (p.Ser165Cys)
|
rs2142097922
|
|
|
NM_000137.4(FAH):c.496G>C (p.Val166Leu)
|
|
|
|
NM_000137.4(FAH):c.497T>G (p.Val166Gly)
|
rs778387055
|
|
|
NM_000137.4(FAH):c.49C>T (p.Leu17=)
|
rs2041065702
|
|
|
NM_000137.4(FAH):c.501G>T (p.Val167=)
|
|
|
|
NM_000137.4(FAH):c.502G>A (p.Val168Met)
|
|
|
|
NM_000137.4(FAH):c.513C>T (p.Thr171=)
|
rs2142097954
|
|
|
NM_000137.4(FAH):c.519C>A (p.Ile173=)
|
rs2142097962
|
|
|
NM_000137.4(FAH):c.51G>A (p.Leu17=)
|
rs756012361
|
|
|
NM_000137.4(FAH):c.520C>T (p.Arg174Ter)
|
rs781496816
|
|
|
NM_000137.4(FAH):c.525G>A (p.Arg175=)
|
|
|
|
NM_000137.4(FAH):c.529A>G (p.Met177Val)
|
|
|
|
NM_000137.4(FAH):c.52C>G (p.Pro18Ala)
|
|
|
|
NM_000137.4(FAH):c.532G>C (p.Gly178Arg)
|
rs2041210221
|
|
|
NM_000137.4(FAH):c.534A>G (p.Gly178=)
|
rs2142097990
|
|
|
NM_000137.4(FAH):c.535_536del (p.Gln179fs)
|
rs2041210282
|
|
|
NM_000137.4(FAH):c.542_553+4dup
|
rs746554047
|
|
|
NM_000137.4(FAH):c.543A>G (p.Lys181=)
|
rs537190415
|
|
|
NM_000137.4(FAH):c.549T>C (p.Asp183=)
|
|
|
|
NM_000137.4(FAH):c.54C>A (p.Pro18=)
|
rs2142086887
|
|
|
NM_000137.4(FAH):c.553+11G>A
|
|
|
|
NM_000137.4(FAH):c.553+11G>T
|
|
|
|
NM_000137.4(FAH):c.553+16G>A
|
|
|
|
NM_000137.4(FAH):c.553+16G>T
|
|
|
|
NM_000137.4(FAH):c.553+17T>C
|
|
|
|
NM_000137.4(FAH):c.553+1G>A
|
|
|
|
NM_000137.4(FAH):c.553+2del
|
|
|
|
NM_000137.4(FAH):c.554-10G>A
|
rs765115302
|
|
|
NM_000137.4(FAH):c.554-12G>A
|
|
|
|
NM_000137.4(FAH):c.554-15C>T
|
rs774367598
|
|
|
NM_000137.4(FAH):c.554-15dup
|
|
|
|
NM_000137.4(FAH):c.554-16T>C
|
|
|
|
NM_000137.4(FAH):c.554-17_554-16insA
|
|
|
|
NM_000137.4(FAH):c.554-4C>G
|
rs1308165232
|
|
|
NM_000137.4(FAH):c.554-6T>C
|
rs2041212398
|
|
|
NM_000137.4(FAH):c.558G>A (p.Lys186=)
|
|
|
|
NM_000137.4(FAH):c.564C>G (p.Pro188=)
|
rs149988384
|
|
|
NM_000137.4(FAH):c.566_606+62del
|
|
|
|
NM_000137.4(FAH):c.570T>C (p.Tyr190=)
|
rs2142098208
|
|
|
NM_000137.4(FAH):c.576C>A (p.Ala192=)
|
|
|
|
NM_000137.4(FAH):c.580A>G (p.Lys194Glu)
|
|
|
|
NM_000137.4(FAH):c.582G>A (p.Lys194=)
|
|
|
|
NM_000137.4(FAH):c.588G>A (p.Leu196=)
|
rs1435460132
|
|
|
NM_000137.4(FAH):c.591C>T (p.Asp197=)
|
|
|
|
NM_000137.4(FAH):c.597G>A (p.Glu199=)
|
rs2142098244
|
|
|
NM_000137.4(FAH):c.598C>T (p.Leu200=)
|
rs2041213194
|
|
|
NM_000137.4(FAH):c.59G>A (p.Gly20Asp)
|
|
|
|
NM_000137.4(FAH):c.606+10C>T
|
rs2142098259
|
|
|
NM_000137.4(FAH):c.606+11T>A
|
|
|
|
NM_000137.4(FAH):c.606+11T>C
|
|
|
|
NM_000137.4(FAH):c.606+14A>C
|
|
|
|
NM_000137.4(FAH):c.606+16G>C
|
|
|
|
NM_000137.4(FAH):c.606+17T>G
|
|
|
|
NM_000137.4(FAH):c.606+1G>A
|
rs773450608
|
|
|
NM_000137.4(FAH):c.606+20T>C
|
|
|
|
NM_000137.4(FAH):c.606+8A>G
|
rs1444983943
|
|
|
NM_000137.4(FAH):c.607-10C>T
|
rs2041245977
|
|
|
NM_000137.4(FAH):c.607-17A>C
|
|
|
|
NM_000137.4(FAH):c.607-18A>G
|
|
|
|
NM_000137.4(FAH):c.607-1G>A
|
rs771712041
|
|
|
NM_000137.4(FAH):c.607-20T>A
|
|
|
|
NM_000137.4(FAH):c.607-4T>A
|
rs2142100909
|
|
|
NM_000137.4(FAH):c.607-5G>A
|
rs2142100907
|
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
|
NM_000137.4(FAH):c.607-8C>A
|
|
|
|
NM_000137.4(FAH):c.607-9C>T
|
rs1325357461
|
|
|
NM_000137.4(FAH):c.615T>A (p.Phe205Leu)
|
rs2041246277
|
|
|
NM_000137.4(FAH):c.615del (p.Phe205fs)
|
rs1057517084
|
|
|
NM_000137.4(FAH):c.615dup (p.Val206fs)
|
rs1057517084
|
|
|
NM_000137.4(FAH):c.621C>T (p.Gly207=)
|
rs1404777519
|
|
|
NM_000137.4(FAH):c.633A>T (p.Arg211Ser)
|
|
|
|
NM_000137.4(FAH):c.634T>C (p.Leu212=)
|
rs1337693496
|
|
|
NM_000137.4(FAH):c.63C>T (p.Val21=)
|
rs2142086898
|
|
|
NM_000137.4(FAH):c.642G>A (p.Glu214=)
|
|
|
|
NM_000137.4(FAH):c.645G>A (p.Pro215=)
|
rs151221329
|
|
|
NM_000137.4(FAH):c.645G>C (p.Pro215=)
|
rs151221329
|
|
|
NM_000137.4(FAH):c.645G>T (p.Pro215=)
|
rs151221329
|
|
|
NM_000137.4(FAH):c.648C>G (p.Ile216Met)
|
rs147016995
|
|
|
NM_000137.4(FAH):c.663C>A (p.Ala221=)
|
rs370892975
|
|
|
NM_000137.4(FAH):c.663C>T (p.Ala221=)
|
rs370892975
|
|
|
NM_000137.4(FAH):c.667G>T (p.Glu223Ter)
|
rs2142101007
|
|
|
NM_000137.4(FAH):c.669G>A (p.Glu223=)
|
|
|
|
NM_000137.4(FAH):c.678T>G (p.Phe226Leu)
|
rs2041247325
|
|
|
NM_000137.4(FAH):c.69G>A (p.Ser23=)
|
|
|
|
NM_000137.4(FAH):c.700T>G (p.Trp234Gly)
|
rs1555441595
|
|
|
NM_000137.4(FAH):c.701G>A (p.Trp234Ter)
|
|
|
|
NM_000137.4(FAH):c.702G>A (p.Trp234Ter)
|
rs765527687
|
|
|
NM_000137.4(FAH):c.704G>A (p.Ser235Asn)
|
|
|
|
NM_000137.4(FAH):c.706+16C>T
|
|
|
|
NM_000137.4(FAH):c.706+1G>A
|
|
|
|
NM_000137.4(FAH):c.706+20T>C
|
|
|
|
NM_000137.4(FAH):c.706+2T>G
|
rs1555441597
|
|
|
NM_000137.4(FAH):c.707-10T>C
|
|
|
|
NM_000137.4(FAH):c.707-12C>T
|
|
|
|
NM_000137.4(FAH):c.707-13C>T
|
|
|
|
NM_000137.4(FAH):c.707-1G>C
|
rs149052294
|
|
|
NM_000137.4(FAH):c.707-7_707-5del
|
rs779284513
|
|
|
NM_000137.4(FAH):c.707-8T>G
|
|
|
|
NM_000137.4(FAH):c.709C>A (p.Arg237=)
|
|
|
|
NM_000137.4(FAH):c.710G>A (p.Arg237Gln)
|
rs2041253905
|
|
|
NM_000137.4(FAH):c.721A>T (p.Lys241Ter)
|
rs2142101647
|
|
|
NM_000137.4(FAH):c.726G>A (p.Trp242Ter)
|
rs1567118987
|
|
|
NM_000137.4(FAH):c.72C>T (p.Thr24=)
|
rs768146083
|
|
|
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
|
|
|
|
NM_000137.4(FAH):c.732T>C (p.Tyr244=)
|
rs2041254296
|
|
|
NM_000137.4(FAH):c.735C>A (p.Val245=)
|
rs1399119821
|
|
|
NM_000137.4(FAH):c.735C>G (p.Val245=)
|
|
|
|
NM_000137.4(FAH):c.738T>G (p.Pro246=)
|
rs2142101669
|
|
|
NM_000137.4(FAH):c.741C>G (p.Leu247=)
|
rs145851627
|
|
|
NM_000137.4(FAH):c.744del (p.Pro249fs)
|
rs750741137
|
|
|
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
|
|
|
|
NM_000137.4(FAH):c.747A>C (p.Pro249=)
|
|
|
|
NM_000137.4(FAH):c.753T>C (p.Leu251=)
|
rs2142101706
|
|
|
NM_000137.4(FAH):c.756G>A (p.Gly252=)
|
rs202041382
|
|
|
NM_000137.4(FAH):c.768G>C (p.Gly256=)
|
|
|
|
NM_000137.4(FAH):c.778T>A (p.Ser260Thr)
|
|
|
|
NM_000137.4(FAH):c.783G>T (p.Pro261=)
|
rs777792671
|
|
|
NM_000137.4(FAH):c.789G>C (p.Val263=)
|
rs2142101764
|
|
|
NM_000137.4(FAH):c.79G>C (p.Asp27His)
|
|
|
|
NM_000137.4(FAH):c.801T>C (p.Asp267=)
|
rs1342383488
|
|
|
NM_000137.4(FAH):c.807C>T (p.Leu269=)
|
|
|
|
NM_000137.4(FAH):c.808dup (p.Met270fs)
|
|
|
|
NM_000137.4(FAH):c.81+10G>A
|
rs199733231
|
|
|
NM_000137.4(FAH):c.81+16T>C
|
|
|
|
NM_000137.4(FAH):c.81+17T>C
|
|
|
|
NM_000137.4(FAH):c.81+2T>G
|
rs772895065
|
|
|
NM_000137.4(FAH):c.81+9T>A
|
|
|
|
NM_000137.4(FAH):c.82-11C>T
|
|
|
|
NM_000137.4(FAH):c.82-16G>A
|
|
|
|
NM_000137.4(FAH):c.82-19G>C
|
|
|
|
NM_000137.4(FAH):c.82-1G>A
|
rs1247460110
|
|
|
NM_000137.4(FAH):c.82-1G>C
|
|
|
|
NM_000137.4(FAH):c.82-20C>T
|
|
|
|
NM_000137.4(FAH):c.82-4C>T
|
|
|
|
NM_000137.4(FAH):c.82-5C>A
|
|
|
|
NM_000137.4(FAH):c.82-5C>G
|
rs1446141136
|
|
|
NM_000137.4(FAH):c.82-5_82-3del
|
|
|
|
NM_000137.4(FAH):c.820G>C (p.Val274Leu)
|
|
|
|
NM_000137.4(FAH):c.825C>G (p.Pro275=)
|
|
|
|
NM_000137.4(FAH):c.827A>G (p.Asn276Ser)
|
|
|
|
NM_000137.4(FAH):c.827A>T (p.Asn276Ile)
|
|
|
|
NM_000137.4(FAH):c.830C>T (p.Pro277Leu)
|
|
|
|
NM_000137.4(FAH):c.837+13T>A
|
|
|
|
NM_000137.4(FAH):c.837+17C>A
|
|
|
|
NM_000137.4(FAH):c.837+18A>G
|
|
|
|
NM_000137.4(FAH):c.837+5G>A
|
|
|
|
NM_000137.4(FAH):c.837G>A (p.Gln279=)
|
|
|
|
NM_000137.4(FAH):c.838-10G>C
|
rs759821435
|
|
|
NM_000137.4(FAH):c.838-10G>T
|
|
|
|
NM_000137.4(FAH):c.838-11T>C
|
|
|
|
NM_000137.4(FAH):c.838-15G>A
|
|
|
|
NM_000137.4(FAH):c.838-19C>T
|
|
|
|
NM_000137.4(FAH):c.838-28_838-15del
|
rs2142103223
|
|
|
NM_000137.4(FAH):c.838-9C>T
|
|
|
|
NM_000137.4(FAH):c.839del (p.Asp280fs)
|
|
|
|
NM_000137.4(FAH):c.843del (p.Arg282fs)
|
|
|
|
NM_000137.4(FAH):c.845G>A (p.Arg282Lys)
|
|
|
|
NM_000137.4(FAH):c.846G>A (p.Arg282=)
|
rs886334563
|
|
|
NM_000137.4(FAH):c.850C>T (p.Leu284=)
|
|
|
|
NM_000137.4(FAH):c.855G>T (p.Pro285=)
|
rs73481171
|
|
|
NM_000137.4(FAH):c.860del (p.Leu287fs)
|
rs2142103306
|
|
|
NM_000137.4(FAH):c.866A>G (p.His289Arg)
|
|
|
|
NM_000137.4(FAH):c.876C>G (p.Pro292=)
|
rs2142103332
|
|
|
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
|
|
|
|
NM_000137.4(FAH):c.87A>G (p.Arg29=)
|
|
|
|
NM_000137.4(FAH):c.882A>G (p.Thr294=)
|
rs2142103341
|
|
|
NM_000137.4(FAH):c.894C>T (p.Asn298=)
|
|
|
|
NM_000137.4(FAH):c.897C>T (p.Leu299=)
|
rs947679755
|
|
|
NM_000137.4(FAH):c.906C>T (p.Asn302=)
|
rs2142103372
|
|
|
NM_000137.4(FAH):c.909G>C (p.Leu303=)
|
rs2142103381
|
|
|
NM_000137.4(FAH):c.90G>A (p.Pro30=)
|
rs202195651
|
|
|
NM_000137.4(FAH):c.90G>C (p.Pro30=)
|
rs202195651
|
|
|
NM_000137.4(FAH):c.910A>T (p.Lys304Ter)
|
rs2041271608
|
|
|
NM_000137.4(FAH):c.913+10A>G
|
rs2142103401
|
|
|
NM_000137.4(FAH):c.913+13G>C
|
|
|
|
NM_000137.4(FAH):c.913+14G>A
|
|
|
|
NM_000137.4(FAH):c.913+15G>T
|
|
|
|
NM_000137.4(FAH):c.913+16A>G
|
|
|
|
NM_000137.4(FAH):c.913+17C>A
|
|
|
|
NM_000137.4(FAH):c.913+8G>T
|
|
|
|
NM_000137.4(FAH):c.914-10T>C
|
rs1272034690
|
|
|
NM_000137.4(FAH):c.914-1G>A
|
rs2142105483
|
|
|
NM_000137.4(FAH):c.914-7C>T
|
|
|
|
NM_000137.4(FAH):c.921A>C (p.Gly307=)
|
|
|
|
NM_000137.4(FAH):c.932C>T (p.Ala311Val)
|
rs529709868
|
|
|
NM_000137.4(FAH):c.932del (p.Ala311fs)
|
rs2142105509
|
|
|
NM_000137.4(FAH):c.948G>A (p.Lys316=)
|
rs2142105527
|
|
|
NM_000137.4(FAH):c.953A>G (p.Asn318Ser)
|
|
|
|
NM_000137.4(FAH):c.960+2T>C
|
rs2142105542
|
|
|
NM_000137.4(FAH):c.960+5G>A
|
|
|
|
NM_000137.4(FAH):c.961-11A>G
|
|
|
|
NM_000137.4(FAH):c.961-13C>T
|
|
|
|
NM_000137.4(FAH):c.961-16C>T
|
rs780170029
|
|
|
NM_000137.4(FAH):c.961-18C>G
|
|
|
|
NM_000137.4(FAH):c.961-20C>G
|
rs2142107661
|
|
|
NM_000137.4(FAH):c.961-5T>C
|
rs2142107684
|
|
|
NM_000137.4(FAH):c.961-8G>T
|
rs932983420
|
|
|
NM_000137.4(FAH):c.963C>G (p.Tyr321Ter)
|
|
|
|
NM_000137.4(FAH):c.969C>T (p.Tyr323=)
|
rs1595897308
|
|
|
NM_000137.4(FAH):c.96dup (p.Gly33fs)
|
rs2142090708
|
|
|
NM_000137.4(FAH):c.971G>A (p.Trp324Ter)
|
rs2041316956
|
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
|
NM_000137.4(FAH):c.975G>A (p.Thr325=)
|
rs776473288
|
|
|
NM_000137.4(FAH):c.977T>C (p.Met326Thr)
|
rs2142107717
|
|
|
NM_000137.4(FAH):c.978dup (p.Leu327fs)
|
rs1595897321
|
|
|
NM_000137.4(FAH):c.981G>A (p.Leu327=)
|
|
|
|
NM_000156.6(GAMT):c.100C>T (p.Leu34=)
|
rs2144641175
|
|
|
NM_000156.6(GAMT):c.106A>G (p.Ile36Val)
|
rs2082632903
|
|
|
NM_000156.6(GAMT):c.108C>T (p.Ile36=)
|
rs2144641154
|
|
|
NM_000156.6(GAMT):c.10C>T (p.Pro4Ser)
|
|
|
|
NM_000156.6(GAMT):c.112G>A (p.Gly38Ser)
|
|
|
|
NM_000156.6(GAMT):c.115A>C (p.Lys39Gln)
|
rs2144641138
|
|
|
NM_000156.6(GAMT):c.119C>G (p.Pro40Arg)
|
|
|
|
NM_000156.6(GAMT):c.119C>T (p.Pro40Leu)
|
rs1222736128
|
|
|
NM_000156.6(GAMT):c.11C>G (p.Pro4Arg)
|
rs587780949
|
|
|
NM_000156.6(GAMT):c.11_36dup (p.Gly13fs)
|
rs1460147564
|
|
|
NM_000156.6(GAMT):c.120G>A (p.Pro40=)
|
rs2144641123
|
|
|
NM_000156.6(GAMT):c.122T>C (p.Val41Ala)
|
rs1569008901
|
|
|
NM_000156.6(GAMT):c.124A>G (p.Met42Val)
|
rs536055494
|
|
|
NM_000156.6(GAMT):c.127G>C (p.Glu43Gln)
|
rs765081198
|
|
|
NM_000156.6(GAMT):c.128_135dup (p.Glu46fs)
|
|
|
|
NM_000156.6(GAMT):c.130C>G (p.Arg44Gly)
|
|
|
|
NM_000156.6(GAMT):c.131G>A (p.Arg44His)
|
|
|
|
NM_000156.6(GAMT):c.131G>C (p.Arg44Pro)
|
rs200339910
|
|
|
NM_000156.6(GAMT):c.134G>A (p.Trp45Ter)
|
|
|
|
NM_000156.6(GAMT):c.138G>A (p.Glu46=)
|
rs2082632667
|
|
|
NM_000156.6(GAMT):c.141C>A (p.Thr47=)
|
rs1442811967
|
|
|
NM_000156.6(GAMT):c.141C>G (p.Thr47=)
|
rs1442811967
|
|
|
NM_000156.6(GAMT):c.144C>T (p.Pro48=)
|
|
|
|
NM_000156.6(GAMT):c.144del (p.Tyr49fs)
|
|
|
|
NM_000156.6(GAMT):c.144dup (p.Tyr49fs)
|
rs2082632611
|
|
|
NM_000156.6(GAMT):c.147T>C (p.Tyr49=)
|
rs2144641018
|
|
|
NM_000156.6(GAMT):c.148A>C (p.Met50Leu)
|
rs104894694
|
|
|
NM_000156.6(GAMT):c.150G>A (p.Met50Ile)
|
rs1569008795
|
|
|
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
|
|
|
|
NM_000156.6(GAMT):c.154G>T (p.Ala52Ser)
|
|
|
|
NM_000156.6(GAMT):c.155C>G (p.Ala52Gly)
|
|
|
|
NM_000156.6(GAMT):c.156G>A (p.Ala52=)
|
rs1447391161
|
|
|
NM_000156.6(GAMT):c.157_158inv (p.Leu53Arg)
|
|
|
|
NM_000156.6(GAMT):c.162C>G (p.Ala54=)
|
rs2082632327
|
|
|
NM_000156.6(GAMT):c.162C>T (p.Ala54=)
|
rs2082632327
|
|
|
NM_000156.6(GAMT):c.163_181+6del
|
rs2144640856
|
|
|
NM_000156.6(GAMT):c.164_171del (p.Ala55fs)
|
rs2144640900
|
|
|
NM_000156.6(GAMT):c.165C>A (p.Ala55=)
|
rs767100879
|
|
|
NM_000156.6(GAMT):c.165C>T (p.Ala55=)
|
rs767100879
|
|
|
NM_000156.6(GAMT):c.166G>A (p.Ala56Thr)
|
|
|
|
NM_000156.6(GAMT):c.168C>T (p.Ala56=)
|
|
|
|
NM_000156.6(GAMT):c.170C>T (p.Ala57Val)
|
rs2082632221
|
|
|
NM_000156.6(GAMT):c.171C>G (p.Ala57=)
|
rs1359387431
|
|
|
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup)
|
rs768895098
|
|
|
NM_000156.6(GAMT):c.179A>C (p.Lys60Thr)
|
rs1228556317
|
|
|
NM_000156.6(GAMT):c.17C>T (p.Ala6Val)
|
rs796052529
|
|
|
NM_000156.6(GAMT):c.181+10G>A
|
|
|
|
NM_000156.6(GAMT):c.181+10G>C
|
rs1555777328
|
|
|
NM_000156.6(GAMT):c.181+12C>T
|
|
|
|
NM_000156.6(GAMT):c.181+13C>G
|
|
|
|
NM_000156.6(GAMT):c.181+16C>T
|
rs776931007
|
|
|
NM_000156.6(GAMT):c.181+18T>G
|
rs2144640824
|
|
|
NM_000156.6(GAMT):c.181+2T>C
|
rs2144640859
|
|
|
NM_000156.6(GAMT):c.181+7C>T
|
rs2144640848
|
|
|
NM_000156.6(GAMT):c.181+8C>T
|
|
|
|
NM_000156.6(GAMT):c.181+9C>G
|
rs762178903
|
|
|
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg)
|
rs1300512258
|
|
|
NM_000156.6(GAMT):c.182-10G>T
|
rs1479331383
|
|
|
NM_000156.6(GAMT):c.182-12G>A
|
|
|
|
NM_000156.6(GAMT):c.182-17G>A
|
|
|
|
NM_000156.6(GAMT):c.182-2A>G
|
rs2082624299
|
|
|
NM_000156.6(GAMT):c.182-4C>T
|
|
|
|
NM_000156.6(GAMT):c.183G>A (p.Gly61=)
|
|
|
|
NM_000156.6(GAMT):c.183G>T (p.Gly61=)
|
rs2082624249
|
|
|
NM_000156.6(GAMT):c.18G>A (p.Ala6=)
|
|
|
|
NM_000156.6(GAMT):c.195G>A (p.Leu65=)
|
rs2144638523
|
|
|
NM_000156.6(GAMT):c.199G>A (p.Val67Met)
|
|
|
|
NM_000156.6(GAMT):c.1A>G (p.Met1Val)
|
rs796052527
|
|
|
NM_000156.6(GAMT):c.200T>A (p.Val67Glu)
|
rs2082624036
|
|
|
NM_000156.6(GAMT):c.218T>C (p.Ile73Thr)
|
rs2082623820
|
|
|
NM_000156.6(GAMT):c.219C>G (p.Ile73Met)
|
|
|
|
NM_000156.6(GAMT):c.21C>A (p.Thr7=)
|
|
|
|
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
|
|
|
|
NM_000156.6(GAMT):c.221C>T (p.Ala74Val)
|
|
|
|
NM_000156.6(GAMT):c.222A>G (p.Ala74=)
|
|
|
|
NM_000156.6(GAMT):c.230A>G (p.Lys77Arg)
|
|
|
|
NM_000156.6(GAMT):c.232G>A (p.Val78Met)
|
rs141358977
|
|
|
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
|
|
|
|
NM_000156.6(GAMT):c.237G>A (p.Gln79=)
|
|
|
|
NM_000156.6(GAMT):c.243G>A (p.Ala81=)
|
rs1048118950
|
|
|
NM_000156.6(GAMT):c.246C>A (p.Pro82=)
|
|
|
|
NM_000156.6(GAMT):c.246C>T (p.Pro82=)
|
|
|
|
NM_000156.6(GAMT):c.248T>C (p.Ile83Thr)
|
rs796052523
|
|
|
NM_000156.6(GAMT):c.24C>A (p.Pro8=)
|
rs2144641443
|
|
|
NM_000156.6(GAMT):c.24del (p.Ile9fs)
|
rs967689898
|
|
|
NM_000156.6(GAMT):c.250G>C (p.Asp84His)
|
rs762438523
|
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
|
NM_000156.6(GAMT):c.261G>C (p.Trp87Cys)
|
|
|
|
NM_000156.6(GAMT):c.262ATC[1] (p.Ile89del)
|
rs750232484
|
|
|
NM_000156.6(GAMT):c.264C>A (p.Ile88=)
|
|
|
|
NM_000156.6(GAMT):c.264C>T (p.Ile88=)
|
|
|
|
NM_000156.6(GAMT):c.267C>A (p.Ile89=)
|
rs1457175740
|
|
|
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys)
|
rs1569006974
|
|
|
NM_000156.6(GAMT):c.273C>T (p.Cys91=)
|
rs2144638258
|
|
|
NM_000156.6(GAMT):c.276T>C (p.Asn92=)
|
rs767814433
|
|
|
NM_000156.6(GAMT):c.278A>T (p.Asp93Val)
|
|
|
|
NM_000156.6(GAMT):c.27C>T (p.Ile9=)
|
rs2144641431
|
|
|
NM_000156.6(GAMT):c.280G>A (p.Gly94Ser)
|
rs774689819
|
|
|
NM_000156.6(GAMT):c.288C>G (p.Phe96Leu)
|
rs1600159259
|
|
|
NM_000156.6(GAMT):c.289del (p.Gln97fs)
|
|
|
|
NM_000156.6(GAMT):c.291G>A (p.Gln97=)
|
rs796052524
|
|
|
NM_000156.6(GAMT):c.291G>T (p.Gln97His)
|
rs796052524
|
|
|
NM_000156.6(GAMT):c.292C>A (p.Arg98=)
|
|
|
|
NM_000156.6(GAMT):c.295C>T (p.Leu99Phe)
|
rs1085307596
|
|
|
NM_000156.6(GAMT):c.299G>A (p.Arg100Gln)
|
|
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
|
NM_000156.6(GAMT):c.2T>C (p.Met1Thr)
|
rs2144641532
|
|
|
NM_000156.6(GAMT):c.301del (p.Asp101fs)
|
rs780806777
|
|
|
NM_000156.6(GAMT):c.304T>C (p.Trp102Arg)
|
|
|
|
NM_000156.6(GAMT):c.305G>A (p.Trp102Ter)
|
rs2144638122
|
|
|
NM_000156.6(GAMT):c.306G>A (p.Trp102Ter)
|
|
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
|
NM_000156.6(GAMT):c.308C>T (p.Ala103Val)
|
rs1298671907
|
|
|
NM_000156.6(GAMT):c.309C>G (p.Ala103=)
|
rs2144638101
|
|
|
NM_000156.6(GAMT):c.30C>G (p.Phe10Leu)
|
rs2144641422
|
|
|
NM_000156.6(GAMT):c.315G>A (p.Arg105=)
|
rs559092619
|
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
|
NM_000156.6(GAMT):c.321A>G (p.Thr107=)
|
|
|
|
NM_000156.6(GAMT):c.324C>T (p.His108=)
|
|
|
|
NM_000156.6(GAMT):c.324_325del (p.His108fs)
|
rs2144638048
|
|
|
NM_000156.6(GAMT):c.327+11G>A
|
|
|
|
NM_000156.6(GAMT):c.327+14C>T
|
|
|
|
NM_000156.6(GAMT):c.327+15G>A
|
|
|
|
NM_000156.6(GAMT):c.327+15G>C
|
|
|
|
NM_000156.6(GAMT):c.327+15G>T
|
|
|
|
NM_000156.6(GAMT):c.327+17A>G
|
|
|
|
NM_000156.6(GAMT):c.327+18G>A
|
|
|
|
NM_000156.6(GAMT):c.327+19G>A
|
|
|
|
NM_000156.6(GAMT):c.327+19G>T
|
|
|
|
NM_000156.6(GAMT):c.327+1G>T
|
rs2144638033
|
|
|
NM_000156.6(GAMT):c.327+2T>G
|
|
|
|
NM_000156.6(GAMT):c.327+4C>T
|
rs767824933
|
|
|
NM_000156.6(GAMT):c.327+7C>T
|
|
|
|
NM_000156.6(GAMT):c.327+9C>T
|
|
|
|
NM_000156.6(GAMT):c.328-11C>T
|
|
|
|
NM_000156.6(GAMT):c.328-13del
|
|
|
|
NM_000156.6(GAMT):c.328-15T>C
|
|
|
|
NM_000156.6(GAMT):c.328-15T>G
|
|
|
|
NM_000156.6(GAMT):c.328-17C>A
|
|
|
|
NM_000156.6(GAMT):c.328-19_328-18del
|
rs911385649
|
|
|
NM_000156.6(GAMT):c.328-23_328-20del
|
|
|
|
NM_000156.6(GAMT):c.328-2A>G
|
rs2082621259
|
|
|
NM_000156.6(GAMT):c.328-5G>A
|
rs1321189630
|
|
|
NM_000156.6(GAMT):c.328-5G>C
|
|
|
|
NM_000156.6(GAMT):c.328-7C>G
|
|
|
|
NM_000156.6(GAMT):c.328-7C>T
|
|
|
|
NM_000156.6(GAMT):c.328-9C>T
|
rs1220189610
|
|
|
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
|
|
|
|
NM_000156.6(GAMT):c.339G>A (p.Leu113=)
|
rs572944977
|
|
|
NM_000156.6(GAMT):c.33G>A (p.Ala11=)
|
rs763777192
|
|
|
NM_000156.6(GAMT):c.33G>T (p.Ala11=)
|
rs763777192
|
|
|
NM_000156.6(GAMT):c.346C>A (p.Leu116Met)
|
rs1467451589
|
|
|
NM_000156.6(GAMT):c.346C>T (p.Leu116=)
|
|
|
|
NM_000156.6(GAMT):c.347T>A (p.Leu116Gln)
|
rs765281181
|
|
|
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter)
|
rs2144637546
|
|
|
NM_000156.6(GAMT):c.356A>G (p.Asp119Gly)
|
rs2082620997
|
|
|
NM_000156.6(GAMT):c.356dup (p.Asp119fs)
|
rs2144637533
|
|
|
NM_000156.6(GAMT):c.358G>A (p.Val120Met)
|
rs2082620964
|
|
|
NM_000156.6(GAMT):c.360G>A (p.Val120=)
|
rs776439107
|
|
|
NM_000156.6(GAMT):c.366C>G (p.Pro122=)
|
|
|
|
NM_000156.6(GAMT):c.369C>G (p.Thr123=)
|
|
|
|
NM_000156.6(GAMT):c.369C>T (p.Thr123=)
|
|
|
|
NM_000156.6(GAMT):c.370del (p.Leu124fs)
|
|
|
|
NM_000156.6(GAMT):c.372G>C (p.Leu124=)
|
rs748762855
|
|
|
NM_000156.6(GAMT):c.37G>T (p.Gly13Cys)
|
|
|
|
NM_000156.6(GAMT):c.385T>G (p.Phe129Val)
|
rs2144637427
|
|
|
NM_000156.6(GAMT):c.389A>C (p.Asp130Ala)
|
rs2082620621
|
|
|
NM_000156.6(GAMT):c.391+18G>C
|
|
|
|
NM_000156.6(GAMT):c.391+1G>C
|
rs1600158894
|
|
|
NM_000156.6(GAMT):c.391+20A>G
|
|
|
|
NM_000156.6(GAMT):c.391+8G>C
|
rs1333892851
|
|
|
NM_000156.6(GAMT):c.391+9_391+15del
|
rs2144637383
|
|
|
NM_000156.6(GAMT):c.392-10C>T
|
|
|
|
NM_000156.6(GAMT):c.392-11T>C
|
|
|
|
NM_000156.6(GAMT):c.392-13G>A
|
|
|
|
NM_000156.6(GAMT):c.392-13G>T
|
|
|
|
NM_000156.6(GAMT):c.392-14T>C
|
|
|
|
NM_000156.6(GAMT):c.392-15C>T
|
|
|
|
NM_000156.6(GAMT):c.392-15_392-14del
|
|
|
|
NM_000156.6(GAMT):c.392-17T>G
|
|
|
|
NM_000156.6(GAMT):c.392-19G>A
|
rs1031492095
|
|
|
NM_000156.6(GAMT):c.392-1G>A
|
rs1600158650
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
|
NM_000156.6(GAMT):c.392-5T>G
|
|
|
|
NM_000156.6(GAMT):c.392-6G>C
|
rs753979877
|
|
|
NM_000156.6(GAMT):c.392-9T>C
|
|
|
|
NM_000156.6(GAMT):c.392-9T>G
|
rs2082618862
|
|
|
NM_000156.6(GAMT):c.393G>T (p.Gly131=)
|
|
|
|
NM_000156.6(GAMT):c.397C>T (p.Leu133=)
|
rs2144636902
|
|
|
NM_000156.6(GAMT):c.399G>T (p.Leu133=)
|
rs2144636896
|
|
|
NM_000156.6(GAMT):c.39C>A (p.Gly13=)
|
rs1262796024
|
|
|
NM_000156.6(GAMT):c.39C>G (p.Gly13=)
|
|
|
|
NM_000156.6(GAMT):c.39C>T (p.Gly13=)
|
rs1262796024
|
|
|
NM_000156.6(GAMT):c.3G>A (p.Met1Ile)
|
rs2082634017
|
|
|
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)
|
rs556829801
|
|
|
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)
|
rs556829801
|
|
|
NM_000156.6(GAMT):c.414_415del (p.Ser140fs)
|
rs2144636856
|
|
|
NM_000156.6(GAMT):c.418T>A (p.Ser140Thr)
|
|
|
|
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)
|
rs747656257
|
|
|
NM_000156.6(GAMT):c.429C>G (p.Thr143=)
|
rs779376340
|
|
|
NM_000156.6(GAMT):c.429C>T (p.Thr143=)
|
|
|
|
NM_000156.6(GAMT):c.42G>A (p.Glu14=)
|
rs775018136
|
|
|
NM_000156.6(GAMT):c.432G>A (p.Trp144Ter)
|
rs1600158570
|
|
|
NM_000156.6(GAMT):c.432_433dup (p.His145fs)
|
rs2144636785
|
|
|
NM_000156.6(GAMT):c.435C>G (p.His145Gln)
|
rs2144636777
|
|
|
NM_000156.6(GAMT):c.440_441del (p.His147fs)
|
rs1487842051
|
|
|
NM_000156.6(GAMT):c.440_441dup (p.Gln148fs)
|
rs1487842051
|
|
|
NM_000156.6(GAMT):c.441C>A (p.His147Gln)
|
rs1555777047
|
|
|
NM_000156.6(GAMT):c.442dup (p.Gln148fs)
|
rs2082618262
|
|
|
NM_000156.6(GAMT):c.444_448del (p.Phe149fs)
|
|
|
|
NM_000156.6(GAMT):c.449A>G (p.Asn150Ser)
|
|
|
|
NM_000156.6(GAMT):c.456C>A (p.Ile152=)
|
rs1198352263
|
|
|
NM_000156.6(GAMT):c.456C>G (p.Ile152Met)
|
|
|
|
NM_000156.6(GAMT):c.459+11C>T
|
|
|
|
NM_000156.6(GAMT):c.459+12dup
|
|
|
|
NM_000156.6(GAMT):c.459+19C>T
|
|
|
|
NM_000156.6(GAMT):c.459+1G>A
|
|
|
|
NM_000156.6(GAMT):c.459+3G>T
|
rs756194610
|
|
|
NM_000156.6(GAMT):c.459+8T>C
|
rs2144636697
|
|
|
NM_000156.6(GAMT):c.459+9_459+12del
|
rs762239322
|
|
|
NM_000156.6(GAMT):c.45C>T (p.Asn15=)
|
|
|
|
NM_000156.6(GAMT):c.460-12C>G
|
|
|
|
NM_000156.6(GAMT):c.460-15A>G
|
|
|
|
NM_000156.6(GAMT):c.460-3C>T
|
|
|
|
NM_000156.6(GAMT):c.460-5C>T
|
|
|
|
NM_000156.6(GAMT):c.460-9C>G
|
rs900568054
|
|
|
NM_000156.6(GAMT):c.460-9C>T
|
rs900568054
|
|
|
NM_000156.6(GAMT):c.462C>G (p.Asn154Lys)
|
rs748256259
|
|
|
NM_000156.6(GAMT):c.462C>T (p.Asn154=)
|
rs748256259
|
|
|
NM_000156.6(GAMT):c.463C>G (p.His155Asp)
|
rs1374777721
|
|
|
NM_000156.6(GAMT):c.463C>T (p.His155Tyr)
|
rs1374777721
|
|
|
NM_000156.6(GAMT):c.465C>T (p.His155=)
|
rs1454250040
|
|
|
NM_000156.6(GAMT):c.466G>A (p.Ala156Thr)
|
|
|
|
NM_000156.6(GAMT):c.46T>G (p.Cys16Gly)
|
rs2082633520
|
|
|
NM_000156.6(GAMT):c.470_476del (p.Phe157fs)
|
rs2144636455
|
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
|
NM_000156.6(GAMT):c.479T>G (p.Leu160Arg)
|
|
|
|
NM_000156.6(GAMT):c.484C>T (p.Pro162Ser)
|
rs1727242337
|
|
|
NM_000156.6(GAMT):c.486G>C (p.Pro162=)
|
rs368650653
|
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
|
NM_000156.6(GAMT):c.491G>T (p.Gly164Val)
|
rs760101382
|
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
|
NM_000156.6(GAMT):c.492C>G (p.Gly164=)
|
rs1555777026
|
|
|
NM_000156.6(GAMT):c.503_517del (p.Tyr168_Thr172del)
|
|
|
|
NM_000156.6(GAMT):c.504C>G (p.Tyr168Ter)
|
rs2082617068
|
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
|
NM_000156.6(GAMT):c.507C>T (p.Cys169=)
|
rs1555777024
|
|
|
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959
|
|
|
NM_000156.6(GAMT):c.509A>G (p.Asn170Ser)
|
rs202199674
|
|
|
NM_000156.6(GAMT):c.50del (p.Ser17fs)
|
|
|
|
NM_000156.6(GAMT):c.513C>A (p.Leu171=)
|
|
|
|
NM_000156.6(GAMT):c.513C>T (p.Leu171=)
|
rs748417607
|
|
|
NM_000156.6(GAMT):c.515C>T (p.Thr172Ile)
|
|
|
|
NM_000156.6(GAMT):c.516C>A (p.Thr172=)
|
rs2144636311
|
|
|
NM_000156.6(GAMT):c.516C>T (p.Thr172=)
|
rs2144636311
|
|
|
NM_000156.6(GAMT):c.519C>T (p.Ser173=)
|
|
|
|
NM_000156.6(GAMT):c.51C>T (p.Ser17=)
|
rs1600160670
|
|
|
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg)
|
rs891042971
|
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
|
NM_000156.6(GAMT):c.521G>T (p.Trp174Leu)
|
rs200444143
|
|
|
NM_000156.6(GAMT):c.522G>C (p.Trp174Cys)
|
|
|
|
NM_000156.6(GAMT):c.523G>T (p.Gly175Trp)
|
rs758371494
|
|
|
NM_000156.6(GAMT):c.525G>A (p.Gly175=)
|
rs2144636249
|
|
|
NM_000156.6(GAMT):c.525G>C (p.Gly175=)
|
rs2144636249
|
|
|
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)
|
rs796052525
|
|
|
NM_000156.6(GAMT):c.526del (p.Glu176fs)
|
rs2144636246
|
|
|
NM_000156.6(GAMT):c.526dup (p.Glu176fs)
|
rs2144636246
|
|
|
NM_000156.6(GAMT):c.527A>G (p.Glu176Gly)
|
|
|
|
NM_000156.6(GAMT):c.529C>T (p.Leu177=)
|
rs750356640
|
|
|
NM_000156.6(GAMT):c.530T>G (p.Leu177Arg)
|
rs1555777015
|
|
|
NM_000156.6(GAMT):c.531G>A (p.Leu177=)
|
rs2144636218
|
|
|
NM_000156.6(GAMT):c.534dup (p.Lys179fs)
|
rs2144636214
|
|
|
NM_000156.6(GAMT):c.536del (p.Lys179fs)
|
rs2144636198
|
|
|
NM_000156.6(GAMT):c.537G>A (p.Lys179=)
|
rs2144636191
|
|
|
NM_000156.6(GAMT):c.53C>T (p.Pro18Leu)
|
rs2144641340
|
|
|
NM_000156.6(GAMT):c.540C>T (p.Ser180=)
|
rs2144636187
|
|
|
NM_000156.6(GAMT):c.54C>G (p.Pro18=)
|
|
|
|
NM_000156.6(GAMT):c.552C>T (p.Asp184=)
|
|
|
|
NM_000156.6(GAMT):c.555C>T (p.Ile185=)
|
rs2144636150
|
|
|
NM_000156.6(GAMT):c.562A>G (p.Met188Val)
|
rs1366312192
|
|
|
NM_000156.6(GAMT):c.563T>A (p.Met188Lys)
|
rs1163644565
|
|
|
NM_000156.6(GAMT):c.563T>C (p.Met188Thr)
|
|
|
|
NM_000156.6(GAMT):c.570+11C>G
|
|
|
|
NM_000156.6(GAMT):c.570+11C>T
|
|
|
|
NM_000156.6(GAMT):c.570+17T>C
|
|
|
|
NM_000156.6(GAMT):c.570+1G>A
|
rs2144636105
|
|
|
NM_000156.6(GAMT):c.570+5G>A
|
rs199678332
|
|
|
NM_000156.6(GAMT):c.570+5G>T
|
rs199678332
|
|
|
NM_000156.6(GAMT):c.570+6C>T
|
|
|
|
NM_000156.6(GAMT):c.571-10C>T
|
|
|
|
NM_000156.6(GAMT):c.571-12A>G
|
|
|
|
NM_000156.6(GAMT):c.571-3C>A
|
|
|
|
NM_000156.6(GAMT):c.571-5A>G
|
|
|
|
NM_000156.6(GAMT):c.571-6G>C
|
rs2074899
|
|
|
NM_000156.6(GAMT):c.571-7_571-6delinsTA
|
rs2144633742
|
|
|
NM_000156.6(GAMT):c.571-9C>T
|
rs775582832
|
|
|
NM_000156.6(GAMT):c.577C>G (p.Gln193Glu)
|
|
|
|
NM_000156.6(GAMT):c.579G>A (p.Gln193=)
|
rs1215212718
|
|
|
NM_000156.6(GAMT):c.584C>T (p.Pro195Leu)
|
rs1569003317
|
|
|
NM_000156.6(GAMT):c.588G>T (p.Ala196=)
|
rs747909654
|
|
|
NM_000156.6(GAMT):c.591G>A (p.Leu197=)
|
rs2144633664
|
|
|
NM_000156.6(GAMT):c.593T>C (p.Leu198Pro)
|
rs1030954874
|
|
|
NM_000156.6(GAMT):c.593T>G (p.Leu198Arg)
|
|
|
|
NM_000156.6(GAMT):c.594G>A (p.Leu198=)
|
rs1569003278
|
|
|
NM_000156.6(GAMT):c.595G>A (p.Glu199Lys)
|
|
|
|
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter)
|
rs80338734
|
|
|
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)
|
rs80338734
|
|
|
NM_000156.6(GAMT):c.602G>A (p.Gly201Asp)
|
rs2082607153
|
|
|
NM_000156.6(GAMT):c.606C>T (p.Phe202=)
|
|
|
|
NM_000156.6(GAMT):c.608_621del (p.Arg203fs)
|
|
|
|
NM_000156.6(GAMT):c.60G>A (p.Trp20Ter)
|
|
|
|
NM_000156.6(GAMT):c.610A>G (p.Arg204Gly)
|
|
|
|
NM_000156.6(GAMT):c.615G>A (p.Glu205=)
|
rs1390338375
|
|
|
NM_000156.6(GAMT):c.617A>G (p.Asn206Ser)
|
|
|
|
NM_000156.6(GAMT):c.622C>A (p.Arg208Ser)
|
rs778279369
|
|
|
NM_000156.6(GAMT):c.623G>T (p.Arg208Leu)
|
|
|
|
NM_000156.6(GAMT):c.630G>A (p.Glu210=)
|
|
|
|
NM_000156.6(GAMT):c.631G>C (p.Val211Leu)
|
rs2144633525
|
|
|
NM_000156.6(GAMT):c.635T>A (p.Met212Lys)
|
|
|
|
NM_000156.6(GAMT):c.648A>G (p.Pro216=)
|
|
|
|
NM_000156.6(GAMT):c.64del (p.Ala22fs)
|
rs1569009071
|
|
|
NM_000156.6(GAMT):c.64dup (p.Ala22fs)
|
rs1569009071
|
|
|
NM_000156.6(GAMT):c.650C>A (p.Pro217Gln)
|
rs139890971
|
|
|
NM_000156.6(GAMT):c.651G>T (p.Pro217=)
|
|
|
|
NM_000156.6(GAMT):c.654C>G (p.Ala218=)
|
rs561375487
|
|
|
NM_000156.6(GAMT):c.657C>A (p.Asp219Glu)
|
|
|
|
NM_000156.6(GAMT):c.65del (p.Ala22fs)
|
|
|
|
NM_000156.6(GAMT):c.666C>T (p.Tyr222=)
|
|
|
|
NM_000156.6(GAMT):c.669C>G (p.Tyr223Ter)
|
rs762954251
|
|
|
NM_000156.6(GAMT):c.66G>T (p.Ala22=)
|
|
|
|
NM_000156.6(GAMT):c.670G>C (p.Ala224Pro)
|
rs141471799
|
|
|
NM_000156.6(GAMT):c.678A>G (p.Pro226=)
|
|
|
|
NM_000156.6(GAMT):c.690G>T (p.Thr230=)
|
|
|
|
NM_000156.6(GAMT):c.692C>T (p.Pro231Leu)
|
|
|
|
NM_000156.6(GAMT):c.693C>T (p.Pro231=)
|
|
|
|
NM_000156.6(GAMT):c.697G>A (p.Val233Met)
|
rs771709696
|
|
|
NM_000156.6(GAMT):c.69G>C (p.Ala23=)
|
|
|
|
NM_000156.6(GAMT):c.6C>T (p.Ser2=)
|
|
|
|
NM_000156.6(GAMT):c.705A>T (p.Lys235Asn)
|
|
|
|
NM_000156.6(GAMT):c.72C>A (p.Pro24=)
|
|
|
|
NM_000156.6(GAMT):c.81C>T (p.Tyr27=)
|
|
|
|
NM_000156.6(GAMT):c.82dup (p.Asp28fs)
|
|
|
|
NM_000156.6(GAMT):c.85G>A (p.Ala29Thr)
|
rs2082633095
|
|
|
NM_000156.6(GAMT):c.87A>T (p.Ala29=)
|
rs1242704513
|
|
|
NM_000156.6(GAMT):c.89C>T (p.Ala30Val)
|
|
|
|
NM_000156.6(GAMT):c.90G>A (p.Ala30=)
|
rs2144641210
|
|
|
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)
|
rs1443859067
|
|
|
NM_000156.6(GAMT):c.96G>A (p.Thr32=)
|
rs1293967229
|
|
|
NM_000159.4(GCDH):c.1000A>T (p.Lys334Ter)
|
|
|
|
NM_000159.4(GCDH):c.1002G>A (p.Lys334=)
|
|
|
|
NM_000159.4(GCDH):c.1002G>C (p.Lys334Asn)
|
|
|
|
NM_000159.4(GCDH):c.1006C>T (p.Leu336=)
|
|
|
|
NM_000159.4(GCDH):c.1008G>A (p.Leu336=)
|
|
|
|
NM_000159.4(GCDH):c.1011A>C (p.Ala337=)
|
|
|
|
NM_000159.4(GCDH):c.1020C>T (p.Leu340=)
|
|
|
|
NM_000159.4(GCDH):c.1021A>T (p.Thr341Ser)
|
|
|
|
NM_000159.4(GCDH):c.1031C>T (p.Thr344Ile)
|
rs869025299
|
|
|
NM_000159.4(GCDH):c.1033C>G (p.Leu345Val)
|
rs1970708854
|
|
|
NM_000159.4(GCDH):c.1038C>A (p.Gly346=)
|
rs1970709021
|
|
|
NM_000159.4(GCDH):c.1038C>T (p.Gly346=)
|
rs1970709021
|
|
|
NM_000159.4(GCDH):c.1047C>T (p.Ala349=)
|
|
|
|
NM_000159.4(GCDH):c.1048T>C (p.Cys350Arg)
|
|
|
|
NM_000159.4(GCDH):c.1056G>A (p.Gln352=)
|
|
|
|
NM_000159.4(GCDH):c.1060G>T (p.Gly354Cys)
|
|
|
|
NM_000159.4(GCDH):c.1064_1065insATTG (p.Lys357fs)
|
rs1568428779
|
|
|
NM_000159.4(GCDH):c.1065C>A (p.Arg355=)
|
rs112816231
|
|
|
NM_000159.4(GCDH):c.1068G>A (p.Leu356=)
|
|
|
|
NM_000159.4(GCDH):c.1075C>T (p.Gln359Ter)
|
|
|
|
NM_000159.4(GCDH):c.1080C>T (p.Asp360=)
|
rs1970710700
|
|
|
NM_000159.4(GCDH):c.1082+10G>A
|
rs2145954156
|
|
|
NM_000159.4(GCDH):c.1082+12G>A
|
|
|
|
NM_000159.4(GCDH):c.1082+14G>T
|
|
|
|
NM_000159.4(GCDH):c.1082+1G>A
|
|
|
|
NM_000159.4(GCDH):c.1082+20G>C
|
|
|
|
NM_000159.4(GCDH):c.1082+2T>C
|
rs2145954110
|
|
|
NM_000159.4(GCDH):c.1082+7G>A
|
rs1970710999
|
|
|
NM_000159.4(GCDH):c.1083-11G>A
|
|
|
|
NM_000159.4(GCDH):c.1083-14T>C
|
|
|
|
NM_000159.4(GCDH):c.1083-18C>G
|
|
|
|
NM_000159.4(GCDH):c.1083-19C>T
|
|
|
|
NM_000159.4(GCDH):c.1083-2A>C
|
rs2145954766
|
|
|
NM_000159.4(GCDH):c.1083-7C>T
|
|
|
|
NM_000159.4(GCDH):c.1083-8A>T
|
rs2145954753
|
|
|
NM_000159.4(GCDH):c.1083-9C>T
|
rs778065536
|
|
|
NM_000159.4(GCDH):c.1085C>T (p.Ala362Val)
|
|
|
|
NM_000159.4(GCDH):c.108A>G (p.Thr36=)
|
|
|
|
NM_000159.4(GCDH):c.1097T>C (p.Met366Thr)
|
|
|
|
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile)
|
rs1599618698
|
|
|
NM_000159.4(GCDH):c.109C>T (p.Gln37Ter)
|
|
|
|
NM_000159.4(GCDH):c.109_110del (p.Gln37fs)
|
rs1970555406
|
|
|
NM_000159.4(GCDH):c.1103C>A (p.Ser368Tyr)
|
rs1970718775
|
|
|
NM_000159.4(GCDH):c.1107G>A (p.Leu369=)
|
rs2145954839
|
|
|
NM_000159.4(GCDH):c.1113G>A (p.Lys371=)
|
rs2145954850
|
|
|
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys)
|
rs1555751240
|
|
|
NM_000159.4(GCDH):c.1116G>C (p.Arg372Ser)
|
|
|
|
NM_000159.4(GCDH):c.1116del (p.Asn373fs)
|
rs2145954876
|
|
|
NM_000159.4(GCDH):c.1118A>G (p.Asn373Ser)
|
rs1568429137
|
|
|
NM_000159.4(GCDH):c.1124G>A (p.Cys375Tyr)
|
rs1568429153
|
|
|
NM_000159.4(GCDH):c.1125_1126del (p.Cys375fs)
|
|
|
|
NM_000159.4(GCDH):c.1128G>A (p.Gly376=)
|
|
|
|
NM_000159.4(GCDH):c.1131A>C (p.Lys377Asn)
|
rs139241235
|
|
|
NM_000159.4(GCDH):c.1132G>A (p.Ala378Thr)
|
rs1442597198
|
|
|
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)
|
rs1970719648
|
|
|
NM_000159.4(GCDH):c.1135C>T (p.Leu379=)
|
|
|
|
NM_000159.4(GCDH):c.1137G>A (p.Leu379=)
|
rs1970719706
|
|
|
NM_000159.4(GCDH):c.1138del (p.Asp380fs)
|
|
|
|
NM_000159.4(GCDH):c.1141A>G (p.Ile381Val)
|
|
|
|
NM_000159.4(GCDH):c.114C>T (p.Ser38=)
|
rs767535651
|
|
|
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly)
|
rs752127949
|
|
|
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)
|
rs398123190
|
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
|
NM_000159.4(GCDH):c.1165C>T (p.Leu389=)
|
|
|
|
NM_000159.4(GCDH):c.1167G>A (p.Leu389=)
|
rs398123191
|
|
|
NM_000159.4(GCDH):c.1167G>C (p.Leu389=)
|
|
|
|
NM_000159.4(GCDH):c.1167G>T (p.Leu389=)
|
|
|
|
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)
|
rs372983141
|
|
|
NM_000159.4(GCDH):c.1168G>T (p.Gly390Trp)
|
|
|
|
NM_000159.4(GCDH):c.116A>C (p.Gln39Pro)
|
rs1599606857
|
|
|
NM_000159.4(GCDH):c.1173del (p.Asn392fs)
|
rs754002357
|
|
|
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)
|
rs754002357
|
|
|
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)
|
rs2145955095
|
|
|
NM_000159.4(GCDH):c.1176T>G (p.Asn392Lys)
|
rs2145955099
|
|
|
NM_000159.4(GCDH):c.1179G>A (p.Gly393=)
|
|
|
|
NM_000159.4(GCDH):c.1182T>G (p.Ile394Met)
|
rs1599618968
|
|
|
NM_000159.4(GCDH):c.1186G>A (p.Asp396Asn)
|
|
|
|
NM_000159.4(GCDH):c.1193A>G (p.Tyr398Cys)
|
|
|
|
NM_000159.4(GCDH):c.1194T>C (p.Tyr398=)
|
|
|
|
NM_000159.4(GCDH):c.1199T>C (p.Val400Ala)
|
rs2145955176
|
|
|
NM_000159.4(GCDH):c.1200G>T (p.Val400=)
|
|
|
|
NM_000159.4(GCDH):c.1203C>T (p.Ile401=)
|
|
|
|
NM_000159.4(GCDH):c.1204C>G (p.Arg402Gly)
|
|
|
|
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)
|
rs786204626
|
|
|
NM_000159.4(GCDH):c.1207C>T (p.His403Tyr)
|
rs1599619080
|
|
|
NM_000159.4(GCDH):c.1208_1243+718del
|
|
|
|
NM_000159.4(GCDH):c.1209C>G (p.His403Gln)
|
rs747746632
|
|
|
NM_000159.4(GCDH):c.120G>A (p.Leu40=)
|
rs2145938892
|
|
|
NM_000159.4(GCDH):c.120_123del (p.Ala41fs)
|
|
|
|
NM_000159.4(GCDH):c.1211C>G (p.Ala404Gly)
|
rs1432619357
|
|
|
NM_000159.4(GCDH):c.1212C>T (p.Ala404=)
|
|
|
|
NM_000159.4(GCDH):c.1214T>C (p.Met405Thr)
|
|
|
|
NM_000159.4(GCDH):c.1218C>T (p.Asn406=)
|
|
|
|
NM_000159.4(GCDH):c.1219C>G (p.Leu407Val)
|
|
|
|
NM_000159.4(GCDH):c.1227C>A (p.Ala409=)
|
|
|
|
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)
|
rs760155287
|
|
|
NM_000159.4(GCDH):c.1236C>A (p.Thr412=)
|
|
|
|
NM_000159.4(GCDH):c.1238A>G (p.Tyr413Cys)
|
|
|
|
NM_000159.4(GCDH):c.123T>A (p.Ala41=)
|
|
|
|
NM_000159.4(GCDH):c.123T>C (p.Ala41=)
|
rs2145938906
|
|
|
NM_000159.4(GCDH):c.1243+11G>A
|
rs1356042526
|
|
|
NM_000159.4(GCDH):c.1243+13C>T
|
|
|
|
NM_000159.4(GCDH):c.1243+17A>G
|
|
|
|
NM_000159.4(GCDH):c.1243+19A>G
|
|
|
|
NM_000159.4(GCDH):c.1243+1G>C
|
|
|
|
NM_000159.4(GCDH):c.1243+20G>A
|
|
|
|
NM_000159.4(GCDH):c.1243+9T>G
|
|
|
|
NM_000159.4(GCDH):c.1244-10T>C
|
|
|
|
NM_000159.4(GCDH):c.1244-11A>C
|
|
|
|
NM_000159.4(GCDH):c.1244-13T>C
|
|
|
|
NM_000159.4(GCDH):c.1244-17G>A
|
|
|
|
NM_000159.4(GCDH):c.1244-17G>C
|
|
|
|
NM_000159.4(GCDH):c.1244-17_1244-16del
|
rs745657713
|
|
|
NM_000159.4(GCDH):c.1244-1G>A
|
rs1160507620
|
|
|
NM_000159.4(GCDH):c.1244-2A>G
|
rs199999619
|
|
|
NM_000159.4(GCDH):c.1244-4C>T
|
rs774546166
|
|
|
NM_000159.4(GCDH):c.1244-6G>A
|
rs1384861178
|
|
|
NM_000159.4(GCDH):c.1247C>T (p.Thr416Ile)
|
rs121434368
|
|
|
NM_000159.4(GCDH):c.1249C>G (p.His417Asp)
|
rs1405935475
|
|
|
NM_000159.4(GCDH):c.1251T>C (p.His417=)
|
|
|
|
NM_000159.4(GCDH):c.1254C>T (p.Asp418=)
|
|
|
|
NM_000159.4(GCDH):c.127+16C>G
|
rs578242746
|
|
|
NM_000159.4(GCDH):c.127+16C>T
|
|
|
|
NM_000159.4(GCDH):c.127+18C>T
|
|
|
|
NM_000159.4(GCDH):c.127+1G>T
|
|
|
|
NM_000159.4(GCDH):c.127+20C>T
|
|
|
|
NM_000159.4(GCDH):c.1274G>A (p.Gly425Glu)
|
rs2145959018
|
|
|
NM_000159.4(GCDH):c.1274G>T (p.Gly425Val)
|
|
|
|
NM_000159.4(GCDH):c.1278A>G (p.Arg426=)
|
|
|
|
NM_000159.4(GCDH):c.128-12dup
|
|
|
|
NM_000159.4(GCDH):c.128-5C>T
|
|
|
|
NM_000159.4(GCDH):c.1287G>A (p.Thr429=)
|
rs141819282
|
|
|
NM_000159.4(GCDH):c.1287G>T (p.Thr429=)
|
rs141819282
|
|
|
NM_000159.4(GCDH):c.1290A>T (p.Gly430=)
|
|
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
|
NM_000159.4(GCDH):c.1305G>A (p.Thr435=)
|
rs200081311
|
|
|
NM_000159.4(GCDH):c.1305G>C (p.Thr435=)
|
rs200081311
|
|
|
NM_000159.4(GCDH):c.1314dup (p.Ter439ValextTer?)
|
|
|
|
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp)
|
rs1555751995
|
|
|
NM_000159.4(GCDH):c.133C>A (p.Arg45Ser)
|
rs1422889400
|
|
|
NM_000159.4(GCDH):c.138C>G (p.Pro46=)
|
|
|
|
NM_000159.4(GCDH):c.138C>T (p.Pro46=)
|
rs1403429553
|
|
|
NM_000159.4(GCDH):c.149G>A (p.Trp50Ter)
|
rs1970564107
|
|
|
NM_000159.4(GCDH):c.150G>A (p.Trp50Ter)
|
rs1970564149
|
|
|
NM_000159.4(GCDH):c.150G>C (p.Trp50Cys)
|
rs1970564149
|
|
|
NM_000159.4(GCDH):c.156C>T (p.Asp52=)
|
|
|
|
NM_000159.4(GCDH):c.158C>T (p.Pro53Leu)
|
|
|
|
NM_000159.4(GCDH):c.15C>A (p.Gly5=)
|
rs2145938210
|
|
|
NM_000159.4(GCDH):c.15C>T (p.Gly5=)
|
|
|
|
NM_000159.4(GCDH):c.167T>C (p.Leu56Pro)
|
|
|
|
NM_000159.4(GCDH):c.168G>T (p.Leu56=)
|
|
|
|
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
|
|
|
|
NM_000159.4(GCDH):c.171G>A (p.Glu57=)
|
|
|
|
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter)
|
rs1006150317
|
|
|
NM_000159.4(GCDH):c.178C>T (p.Leu60=)
|
|
|
|
NM_000159.4(GCDH):c.189T>C (p.Asp63=)
|
|
|
|
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp)
|
rs1555749239
|
|
|
NM_000159.4(GCDH):c.193A>C (p.Ile65Leu)
|
rs1275589130
|
|
|
NM_000159.4(GCDH):c.196C>T (p.Leu66Phe)
|
rs762640205
|
|
|
NM_000159.4(GCDH):c.198C>T (p.Leu66=)
|
|
|
|
NM_000159.4(GCDH):c.1A>C (p.Met1Leu)
|
rs1197426645
|
|
|
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr)
|
rs1417389111
|
|
|
NM_000159.4(GCDH):c.204G>A (p.Arg68=)
|
|
|
|
NM_000159.4(GCDH):c.204G>C (p.Arg68Ser)
|
|
|
|
NM_000159.4(GCDH):c.215G>A (p.Arg72His)
|
rs759076157
|
|
|
NM_000159.4(GCDH):c.215G>T (p.Arg72Leu)
|
|
|
|
NM_000159.4(GCDH):c.216C>T (p.Arg72=)
|
rs1970566527
|
|
|
NM_000159.4(GCDH):c.219del (p.Tyr74fs)
|
rs1057516521
|
|
|
NM_000159.4(GCDH):c.222C>A (p.Tyr74Ter)
|
rs754378464
|
|
|
NM_000159.4(GCDH):c.222C>T (p.Tyr74=)
|
|
|
|
NM_000159.4(GCDH):c.227A>G (p.Gln76Arg)
|
|
|
|
NM_000159.4(GCDH):c.231G>A (p.Glu77=)
|
rs1301943901
|
|
|
NM_000159.4(GCDH):c.232A>G (p.Arg78Gly)
|
|
|
|
NM_000159.4(GCDH):c.244C>T (p.Arg82Cys)
|
|
|
|
NM_000159.4(GCDH):c.245G>C (p.Arg82Pro)
|
rs1568424857
|
|
|
NM_000159.4(GCDH):c.246C>A (p.Arg82=)
|
rs1466044796
|
|
|
NM_000159.4(GCDH):c.249C>T (p.Ile83=)
|
rs1013749296
|
|
|
NM_000159.4(GCDH):c.250C>T (p.Leu84=)
|
rs2145940216
|
|
|
NM_000159.4(GCDH):c.251del (p.Leu84fs)
|
|
|
|
NM_000159.4(GCDH):c.252G>A (p.Leu84=)
|
|
|
|
NM_000159.4(GCDH):c.257C>G (p.Ala86Gly)
|
|
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
|
NM_000159.4(GCDH):c.262C>G (p.Arg88Gly)
|
rs142967670
|
|
|
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)
|
rs142967670
|
|
|
NM_000159.4(GCDH):c.271+11T>G
|
|
|
|
NM_000159.4(GCDH):c.271+16G>T
|
|
|
|
NM_000159.4(GCDH):c.271+17G>A
|
|
|
|
NM_000159.4(GCDH):c.271+19G>A
|
|
|
|
NM_000159.4(GCDH):c.271+1G>A
|
rs786204639
|
|
|
NM_000159.4(GCDH):c.271+8G>A
|
rs2145940277
|
|
|
NM_000159.4(GCDH):c.272-12G>A
|
|
|
|
NM_000159.4(GCDH):c.272-13G>T
|
|
|
|
NM_000159.4(GCDH):c.272-15C>T
|
|
|
|
NM_000159.4(GCDH):c.272-17C>T
|
|
|
|
NM_000159.4(GCDH):c.272-20G>C
|
|
|
|
NM_000159.4(GCDH):c.272-20G>T
|
|
|
|
NM_000159.4(GCDH):c.272-2A>C
|
rs1555749369
|
|
|
NM_000159.4(GCDH):c.272-9C>T
|
|
|
|
NM_000159.4(GCDH):c.275T>G (p.Phe92Cys)
|
rs2145940591
|
|
|
NM_000159.4(GCDH):c.276T>C (p.Phe92=)
|
|
|
|
NM_000159.4(GCDH):c.279T>C (p.His93=)
|
|
|
|
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp)
|
rs771602677
|
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
|
NM_000159.4(GCDH):c.283G>C (p.Glu95Gln)
|
|
|
|
NM_000159.4(GCDH):c.288C>T (p.Ile96=)
|
rs868023396
|
|
|
NM_000159.4(GCDH):c.291T>C (p.Ile97=)
|
rs766788256
|
|
|
NM_000159.4(GCDH):c.297G>A (p.Glu99=)
|
rs2145940675
|
|
|
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg)
|
rs1273164833
|
|
|
NM_000159.4(GCDH):c.304G>C (p.Glu102Gln)
|
|
|
|
NM_000159.4(GCDH):c.304del (p.Glu102fs)
|
|
|
|
NM_000159.4(GCDH):c.311G>C (p.Gly104Ala)
|
|
|
|
NM_000159.4(GCDH):c.316C>T (p.Leu106=)
|
|
|
|
NM_000159.4(GCDH):c.327C>G (p.Thr109=)
|
rs2145940768
|
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
|
NM_000159.4(GCDH):c.330C>A (p.Ile110=)
|
rs745618765
|
|
|
NM_000159.4(GCDH):c.330C>T (p.Ile110=)
|
rs745618765
|
|
|
NM_000159.4(GCDH):c.334+12T>C
|
|
|
|
NM_000159.4(GCDH):c.334+14T>C
|
|
|
|
NM_000159.4(GCDH):c.334+17C>G
|
|
|
|
NM_000159.4(GCDH):c.334+1G>A
|
|
|
|
NM_000159.4(GCDH):c.334+20C>T
|
|
|
|
NM_000159.4(GCDH):c.334+8C>A
|
|
|
|
NM_000159.4(GCDH):c.334+8C>T
|
|
|
|
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter)
|
rs758137643
|
|
|
NM_000159.4(GCDH):c.335-10C>T
|
|
|
|
NM_000159.4(GCDH):c.335-13C>T
|
|
|
|
NM_000159.4(GCDH):c.335-18C>T
|
|
|
|
NM_000159.4(GCDH):c.335-5A>C
|
|
|
|
NM_000159.4(GCDH):c.335-6del
|
|
|
|
NM_000159.4(GCDH):c.335-7C>T
|
rs1276560235
|
|
|
NM_000159.4(GCDH):c.337T>C (p.Tyr113His)
|
rs1555749853
|
|
|
NM_000159.4(GCDH):c.338A>G (p.Tyr113Cys)
|
rs1970602621
|
|
|
NM_000159.4(GCDH):c.339T>C (p.Tyr113=)
|
|
|
|
NM_000159.4(GCDH):c.342C>T (p.Gly114=)
|
rs933742715
|
|
|
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
|
|
|
|
NM_000159.4(GCDH):c.348T>G (p.Ala116=)
|
|
|
|
NM_000159.4(GCDH):c.349G>A (p.Gly117Arg)
|
|
|
|
NM_000159.4(GCDH):c.351G>A (p.Gly117=)
|
rs765292190
|
|
|
NM_000159.4(GCDH):c.363G>A (p.Val121=)
|
|
|
|
NM_000159.4(GCDH):c.366C>T (p.Ala122=)
|
rs751364711
|
|
|
NM_000159.4(GCDH):c.367T>C (p.Tyr123His)
|
|
|
|
NM_000159.4(GCDH):c.372G>A (p.Gly124=)
|
|
|
|
NM_000159.4(GCDH):c.372G>C (p.Gly124=)
|
|
|
|
NM_000159.4(GCDH):c.375C>T (p.Leu125=)
|
rs1262773034
|
|
|
NM_000159.4(GCDH):c.378G>C (p.Leu126=)
|
rs1599610282
|
|
|
NM_000159.4(GCDH):c.381C>G (p.Ala127=)
|
|
|
|
NM_000159.4(GCDH):c.381C>T (p.Ala127=)
|
|
|
|
NM_000159.4(GCDH):c.384A>G (p.Arg128=)
|
rs2145944138
|
|
|
NM_000159.4(GCDH):c.386A>C (p.Glu129Ala)
|
rs1568425945
|
|
|
NM_000159.4(GCDH):c.389T>C (p.Leu130Pro)
|
rs1254101861
|
|
|
NM_000159.4(GCDH):c.396G>A (p.Arg132=)
|
|
|
|
NM_000159.4(GCDH):c.397G>A (p.Val133Met)
|
rs746388510
|
|
|
NM_000159.4(GCDH):c.397G>T (p.Val133Leu)
|
rs746388510
|
|
|
NM_000159.4(GCDH):c.398T>G (p.Val133Gly)
|
rs772549903
|
|
|
NM_000159.4(GCDH):c.401A>T (p.Asp134Val)
|
rs1970604130
|
|
|
NM_000159.4(GCDH):c.402C>T (p.Asp134=)
|
rs2145944193
|
|
|
NM_000159.4(GCDH):c.406G>T (p.Gly136Cys)
|
rs1970604182
|
|
|
NM_000159.4(GCDH):c.408C>T (p.Gly136=)
|
|
|
|
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)
|
rs747370741
|
|
|
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)
|
rs139851890
|
|
|
NM_000159.4(GCDH):c.417G>T (p.Ser139=)
|
|
|
|
NM_000159.4(GCDH):c.420G>A (p.Ala140=)
|
rs1408565185
|
|
|
NM_000159.4(GCDH):c.428_957-39del
|
|
|
|
NM_000159.4(GCDH):c.429C>G (p.Val143=)
|
|
|
|
NM_000159.4(GCDH):c.429C>T (p.Val143=)
|
|
|
|
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr)
|
rs1555749927
|
|
|
NM_000159.4(GCDH):c.438C>T (p.Ser146=)
|
rs1970606310
|
|
|
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
|
|
|
|
NM_000159.4(GCDH):c.444C>T (p.Val148=)
|
|
|
|
NM_000159.4(GCDH):c.445A>G (p.Met149Val)
|
|
|
|
NM_000159.4(GCDH):c.446T>C (p.Met149Thr)
|
rs2145944429
|
|
|
NM_000159.4(GCDH):c.459T>C (p.Tyr153=)
|
|
|
|
NM_000159.4(GCDH):c.45C>T (p.Pro15=)
|
rs2145938335
|
|
|
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
|
|
|
|
NM_000159.4(GCDH):c.465T>C (p.Tyr155=)
|
rs2145944531
|
|
|
NM_000159.4(GCDH):c.467G>T (p.Gly156Val)
|
rs1034155331
|
|
|
NM_000159.4(GCDH):c.478C>T (p.Gln160Ter)
|
rs1970608600
|
|
|
NM_000159.4(GCDH):c.479_481del (p.Gln160del)
|
|
|
|
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)
|
rs1173575355
|
|
|
NM_000159.4(GCDH):c.483G>A (p.Arg161=)
|
|
|
|
NM_000159.4(GCDH):c.486G>A (p.Gln162=)
|
rs2145944634
|
|
|
NM_000159.4(GCDH):c.48C>G (p.Gly16=)
|
rs1436850883
|
|
|
NM_000159.4(GCDH):c.495G>A (p.Leu165=)
|
rs1475804794
|
|
|
NM_000159.4(GCDH):c.495G>T (p.Leu165=)
|
rs1475804794
|
|
|
NM_000159.4(GCDH):c.49C>G (p.Leu17Val)
|
|
|
|
NM_000159.4(GCDH):c.505+11G>T
|
|
|
|
NM_000159.4(GCDH):c.505+12C>T
|
|
|
|
NM_000159.4(GCDH):c.505+12_505+71del
|
rs2145944782
|
|
|
NM_000159.4(GCDH):c.505+14C>T
|
|
|
|
NM_000159.4(GCDH):c.505+15A>G
|
|
|
|
NM_000159.4(GCDH):c.505+19G>A
|
|
|
|
NM_000159.4(GCDH):c.505+1G>A
|
rs968628450
|
|
|
NM_000159.4(GCDH):c.505+7G>A
|
rs2145944779
|
|
|
NM_000159.4(GCDH):c.506-13C>A
|
|
|
|
NM_000159.4(GCDH):c.506-13C>G
|
|
|
|
NM_000159.4(GCDH):c.506-13C>T
|
|
|
|
NM_000159.4(GCDH):c.506-14T>C
|
|
|
|
NM_000159.4(GCDH):c.506-16T>C
|
|
|
|
NM_000159.4(GCDH):c.506-18T>A
|
|
|
|
NM_000159.4(GCDH):c.506-19C>T
|
|
|
|
NM_000159.4(GCDH):c.506-7C>T
|
|
|
|
NM_000159.4(GCDH):c.506-8G>A
|
rs376016112
|
|
|
NM_000159.4(GCDH):c.510G>A (p.Lys170=)
|
rs200785120
|
|
|
NM_000159.4(GCDH):c.510G>T (p.Lys170Asn)
|
|
|
|
NM_000159.4(GCDH):c.511G>C (p.Gly171Arg)
|
rs2145950047
|
|
|
NM_000159.4(GCDH):c.511G>T (p.Gly171Trp)
|
rs2145950047
|
|
|
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter)
|
rs1057516715
|
|
|
NM_000159.4(GCDH):c.51G>A (p.Leu17=)
|
rs772706462
|
|
|
NM_000159.4(GCDH):c.524del (p.Gly175fs)
|
|
|
|
NM_000159.4(GCDH):c.525C>G (p.Gly175=)
|
|
|
|
NM_000159.4(GCDH):c.528C>T (p.Cys176=)
|
rs756345321
|
|
|
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu)
|
rs786204627
|
|
|
NM_000159.4(GCDH):c.535C>G (p.Leu179Val)
|
rs201714645
|
|
|
NM_000159.4(GCDH):c.535C>T (p.Leu179Phe)
|
|
|
|
NM_000159.4(GCDH):c.540A>G (p.Thr180=)
|
rs2145950187
|
|
|
NM_000159.4(GCDH):c.542_543del (p.Glu181fs)
|
rs2145950197
|
|
|
NM_000159.4(GCDH):c.543G>A (p.Glu181=)
|
|
|
|
NM_000159.4(GCDH):c.548A>G (p.Asn183Ser)
|
|
|
|
NM_000159.4(GCDH):c.554G>A (p.Gly185Glu)
|
|
|
|
NM_000159.4(GCDH):c.555A>C (p.Gly185=)
|
|
|
|
NM_000159.4(GCDH):c.559G>A (p.Asp187Asn)
|
|
|
|
NM_000159.4(GCDH):c.561C>A (p.Asp187Glu)
|
|
|
|
NM_000159.4(GCDH):c.570C>T (p.Ser190=)
|
|
|
|
NM_000159.4(GCDH):c.576_577delinsAC (p.Thr193Pro)
|
|
|
|
NM_000159.4(GCDH):c.579C>T (p.Thr193=)
|
rs1338648863
|
|
|
NM_000159.4(GCDH):c.57C>A (p.Val19=)
|
rs1211924450
|
|
|
NM_000159.4(GCDH):c.57C>T (p.Val19=)
|
|
|
|
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)
|
rs2145950460
|
|
|
NM_000159.4(GCDH):c.591C>T (p.Tyr197=)
|
rs755546081
|
|
|
NM_000159.4(GCDH):c.597A>G (p.Ser199=)
|
|
|
|
NM_000159.4(GCDH):c.609C>T (p.Ser203=)
|
|
|
|
NM_000159.4(GCDH):c.614C>A (p.Thr205Asn)
|
|
|
|
NM_000159.4(GCDH):c.624G>A (p.Gly208=)
|
|
|
|
NM_000159.4(GCDH):c.627C>A (p.Thr209=)
|
rs143172809
|
|
|
NM_000159.4(GCDH):c.633C>A (p.Thr211=)
|
rs2145950612
|
|
|
NM_000159.4(GCDH):c.635+10C>A
|
rs1599614516
|
|
|
NM_000159.4(GCDH):c.635+12G>A
|
|
|
|
NM_000159.4(GCDH):c.635+19G>A
|
|
|
|
NM_000159.4(GCDH):c.635+7G>A
|
rs2145950631
|
|
|
NM_000159.4(GCDH):c.636-16A>G
|
|
|
|
NM_000159.4(GCDH):c.636-17G>A
|
|
|
|
NM_000159.4(GCDH):c.636-17G>C
|
|
|
|
NM_000159.4(GCDH):c.636-4C>T
|
|
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
|
NM_000159.4(GCDH):c.636-6C>A
|
|
|
|
NM_000159.4(GCDH):c.636-7T>A
|
|
|
|
NM_000159.4(GCDH):c.636-7T>C
|
|
|
|
NM_000159.4(GCDH):c.636-9del
|
rs771335099
|
|
|
NM_000159.4(GCDH):c.63C>T (p.Arg21=)
|
|
|
|
NM_000159.4(GCDH):c.640A>G (p.Thr214Ala)
|
rs1468636851
|
|
|
NM_000159.4(GCDH):c.643A>G (p.Asn215Asp)
|
rs1970674860
|
|
|
NM_000159.4(GCDH):c.648G>A (p.Ser216=)
|
rs2145950883
|
|
|
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)
|
rs1970675055
|
|
|
NM_000159.4(GCDH):c.658G>T (p.Asp220Tyr)
|
|
|
|
NM_000159.4(GCDH):c.659A>T (p.Asp220Val)
|
|
|
|
NM_000159.4(GCDH):c.661_662del (p.Leu221fs)
|
rs2145950918
|
|
|
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)
|
rs786205862
|
|
|
NM_000159.4(GCDH):c.679C>G (p.Arg227Gly)
|
|
|
|
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln)
|
rs121434373
|
|
|
NM_000159.4(GCDH):c.680G>T (p.Arg227Leu)
|
rs121434373
|
|
|
NM_000159.4(GCDH):c.681G>A (p.Arg227=)
|
|
|
|
NM_000159.4(GCDH):c.681G>C (p.Arg227=)
|
|
|
|
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)
|
rs1970675873
|
|
|
NM_000159.4(GCDH):c.688G>A (p.Asp230Asn)
|
rs575325364
|
|
|
NM_000159.4(GCDH):c.693C>G (p.Gly231=)
|
rs1970676135
|
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
|
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)
|
rs1203022386
|
|
|
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)
|
rs747920711
|
|
|
NM_000159.4(GCDH):c.713T>C (p.Leu238Pro)
|
|
|
|
NM_000159.4(GCDH):c.714G>A (p.Leu238=)
|
|
|
|
NM_000159.4(GCDH):c.715G>A (p.Glu239Lys)
|
rs1970677215
|
|
|
NM_000159.4(GCDH):c.728G>A (p.Arg243Gln)
|
|
|
|
NM_000159.4(GCDH):c.729G>C (p.Arg243=)
|
rs2145951167
|
|
|
NM_000159.4(GCDH):c.732T>C (p.Gly244=)
|
rs1599614979
|
|
|
NM_000159.4(GCDH):c.735C>A (p.Leu245=)
|
rs372678445
|
|
|
NM_000159.4(GCDH):c.736_737del (p.Ser246fs)
|
rs751287220
|
|
|
NM_000159.4(GCDH):c.741C>T (p.Ala247=)
|
rs2145951229
|
|
|
NM_000159.4(GCDH):c.747del (p.Ile250fs)
|
|
|
|
NM_000159.4(GCDH):c.748A>T (p.Ile250Phe)
|
rs1599615059
|
|
|
NM_000159.4(GCDH):c.751C>T (p.Gln251Ter)
|
rs1008834111
|
|
|
NM_000159.4(GCDH):c.763T>C (p.Ser255Pro)
|
|
|
|
NM_000159.4(GCDH):c.764C>A (p.Ser255Ter)
|
|
|
|
NM_000159.4(GCDH):c.764C>G (p.Ser255Trp)
|
|
|
|
NM_000159.4(GCDH):c.765G>A (p.Ser255=)
|
rs1193455540
|
|
|
NM_000159.4(GCDH):c.765G>T (p.Ser255=)
|
|
|
|
NM_000159.4(GCDH):c.775T>C (p.Ser259Pro)
|
rs2145951375
|
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
|
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile)
|
rs777494547
|
|
|
NM_000159.4(GCDH):c.786C>A (p.Gly262=)
|
rs1599615180
|
|
|
NM_000159.4(GCDH):c.787A>G (p.Met263Val)
|
|
|
|
NM_000159.4(GCDH):c.788T>C (p.Met263Thr)
|
|
|
|
NM_000159.4(GCDH):c.78G>A (p.Ser26=)
|
|
|
|
NM_000159.4(GCDH):c.78G>C (p.Ser26=)
|
rs376747683
|
|
|
NM_000159.4(GCDH):c.797T>C (p.Met266Thr)
|
rs771650894
|
|
|
NM_000159.4(GCDH):c.79del (p.Ala27fs)
|
rs1057516939
|
|
|
NM_000159.4(GCDH):c.7C>T (p.Leu3=)
|
|
|
|
NM_000159.4(GCDH):c.803G>T (p.Gly268Val)
|
rs765723076
|
|
|
NM_000159.4(GCDH):c.80C>T (p.Ala27Val)
|
|
|
|
NM_000159.4(GCDH):c.810G>A (p.Glu270=)
|
rs2145951500
|
|
|
NM_000159.4(GCDH):c.813G>T (p.Val271=)
|
rs2145951510
|
|
|
NM_000159.4(GCDH):c.81G>T (p.Ala27=)
|
rs773407020
|
|
|
NM_000159.4(GCDH):c.831C>T (p.Leu277=)
|
rs1355435798
|
|
|
NM_000159.4(GCDH):c.831_834dup (p.Gly279fs)
|
|
|
|
NM_000159.4(GCDH):c.833C>G (p.Pro278Arg)
|
|
|
|
NM_000159.4(GCDH):c.834T>C (p.Pro278=)
|
rs2145951607
|
|
|
NM_000159.4(GCDH):c.840A>C (p.Ala280=)
|
rs2145951627
|
|
|
NM_000159.4(GCDH):c.848T>C (p.Leu283Pro)
|
rs1970682343
|
|
|
NM_000159.4(GCDH):c.84G>A (p.Ala28=)
|
rs751454066
|
|
|
NM_000159.4(GCDH):c.84G>T (p.Ala28=)
|
|
|
|
NM_000159.4(GCDH):c.851G>C (p.Gly284Ala)
|
|
|
|
NM_000159.4(GCDH):c.852+15C>G
|
|
|
|
NM_000159.4(GCDH):c.852+18T>A
|
|
|
|
NM_000159.4(GCDH):c.852+1G>A
|
rs1367214521
|
|
|
NM_000159.4(GCDH):c.852+1del
|
|
|
|
NM_000159.4(GCDH):c.853-11C>T
|
|
|
|
NM_000159.4(GCDH):c.853-15A>C
|
|
|
|
NM_000159.4(GCDH):c.853-18G>A
|
|
|
|
NM_000159.4(GCDH):c.853-19C>T
|
|
|
|
NM_000159.4(GCDH):c.853-20G>T
|
|
|
|
NM_000159.4(GCDH):c.853-4A>G
|
|
|
|
NM_000159.4(GCDH):c.858C>T (p.Pro286=)
|
|
|
|
NM_000159.4(GCDH):c.860T>C (p.Phe287Ser)
|
|
|
|
NM_000159.4(GCDH):c.860dup (p.Gly288fs)
|
rs1970693382
|
|
|
NM_000159.4(GCDH):c.864C>T (p.Gly288=)
|
|
|
|
NM_000159.4(GCDH):c.870G>A (p.Leu290=)
|
rs2145952706
|
|
|
NM_000159.4(GCDH):c.873C>T (p.Asn291=)
|
|
|
|
NM_000159.4(GCDH):c.878C>T (p.Ala293Val)
|
|
|
|
NM_000159.4(GCDH):c.879C>G (p.Ala293=)
|
|
|
|
NM_000159.4(GCDH):c.879C>T (p.Ala293=)
|
|
|
|
NM_000159.4(GCDH):c.881G>C (p.Arg294Pro)
|
rs775606471
|
|
|
NM_000159.4(GCDH):c.881G>T (p.Arg294Leu)
|
rs775606471
|
|
|
NM_000159.4(GCDH):c.882G>A (p.Arg294=)
|
rs2145952773
|
|
|
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)
|
rs139192015
|
|
|
NM_000159.4(GCDH):c.894G>C (p.Ala298=)
|
rs150834108
|
|
|
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)
|
rs1599616676
|
|
|
NM_000159.4(GCDH):c.8dup (p.Arg4fs)
|
rs2145938175
|
|
|
NM_000159.4(GCDH):c.900C>T (p.Gly300=)
|
|
|
|
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
|
|
|
|
NM_000159.4(GCDH):c.903G>A (p.Val301=)
|
rs2145952871
|
|
|
NM_000159.4(GCDH):c.905T>C (p.Leu302Pro)
|
rs2145952877
|
|
|
NM_000159.4(GCDH):c.91+12G>A
|
|
|
|
NM_000159.4(GCDH):c.91+14C>A
|
|
|
|
NM_000159.4(GCDH):c.91+15G>T
|
|
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
|
NM_000159.4(GCDH):c.91+5G>T
|
rs952356983
|
|
|
NM_000159.4(GCDH):c.91+8T>A
|
|
|
|
NM_000159.4(GCDH):c.91+8_91+9del
|
|
|
|
NM_000159.4(GCDH):c.91G>T (p.Glu31Ter)
|
rs1374072630
|
|
|
NM_000159.4(GCDH):c.92-10G>A
|
rs1970555071
|
|
|
NM_000159.4(GCDH):c.92-15G>T
|
|
|
|
NM_000159.4(GCDH):c.92-16C>T
|
|
|
|
NM_000159.4(GCDH):c.92-18C>T
|
|
|
|
NM_000159.4(GCDH):c.92-4G>A
|
rs1970555166
|
|
|
NM_000159.4(GCDH):c.92-8G>C
|
rs2145938816
|
|
|
NM_000159.4(GCDH):c.920dup (p.Cys308fs)
|
|
|
|
NM_000159.4(GCDH):c.926T>G (p.Leu309Trp)
|
|
|
|
NM_000159.4(GCDH):c.930C>T (p.His310=)
|
rs2145952978
|
|
|
NM_000159.4(GCDH):c.932dup (p.Ala312fs)
|
rs1970695925
|
|
|
NM_000159.4(GCDH):c.940C>T (p.Gln314Ter)
|
rs1970696255
|
|
|
NM_000159.4(GCDH):c.942G>A (p.Gln314=)
|
rs2145953021
|
|
|
NM_000159.4(GCDH):c.956+11G>A
|
|
|
|
NM_000159.4(GCDH):c.956+14G>A
|
|
|
|
NM_000159.4(GCDH):c.956+17G>A
|
rs765218612
|
|
|
NM_000159.4(GCDH):c.956+18T>C
|
|
|
|
NM_000159.4(GCDH):c.957-16G>A
|
|
|
|
NM_000159.4(GCDH):c.957-1G>T
|
|
|
|
NM_000159.4(GCDH):c.957-20C>A
|
|
|
|
NM_000159.4(GCDH):c.957-20C>T
|
|
|
|
NM_000159.4(GCDH):c.957-6A>C
|
rs748270195
|
|
|
NM_000159.4(GCDH):c.957-6A>T
|
rs748270195
|
|
|
NM_000159.4(GCDH):c.957-7C>T
|
rs2145953733
|
|
|
NM_000159.4(GCDH):c.957G>A (p.Arg319=)
|
|
|
|
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)
|
|
|
|
NM_000159.4(GCDH):c.966T>C (p.Phe322=)
|
rs1436984668
|
|
|
NM_000159.4(GCDH):c.972C>A (p.Val324=)
|
|
|
|
NM_000159.4(GCDH):c.981_982delinsTT (p.Arg328Trp)
|
|
|
|
NM_000159.4(GCDH):c.993G>A (p.Leu331=)
|
rs1477463597
|
|
|
NM_000159.4(GCDH):c.993G>C (p.Leu331=)
|
rs1477463597
|
|
|
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu)
|
rs794726972
|
|
|
NM_000159.4(GCDH):c.998A>G (p.Gln333Arg)
|
rs2145953853
|
|
|
NM_000159.4(GCDH):c.99C>A (p.Gly33=)
|
|
|
|
NM_000161.3(GCH1):c.-22C>T
|
|
|
|
NM_000161.3(GCH1):c.109G>T (p.Glu37Ter)
|
rs2140127551
|
|
|
NM_000161.3(GCH1):c.10G>A (p.Gly4Ser)
|
|
|
|
NM_000161.3(GCH1):c.111G>A (p.Glu37=)
|
|
|
|
NM_000161.3(GCH1):c.115C>A (p.Pro39Thr)
|
rs770932357
|
|
|
NM_000161.3(GCH1):c.119C>G (p.Pro40Arg)
|
rs995999325
|
|
|
NM_000161.3(GCH1):c.11G>A (p.Gly4Asp)
|
rs2140127797
|
|
|
NM_000161.3(GCH1):c.120G>C (p.Pro40=)
|
|
|
|
NM_000161.3(GCH1):c.126C>A (p.Pro42=)
|
rs2140127497
|
|
|
NM_000161.3(GCH1):c.126C>T (p.Pro42=)
|
rs2140127497
|
|
|
NM_000161.3(GCH1):c.127_130dup (p.Ala44fs)
|
rs1595031524
|
|
|
NM_000161.3(GCH1):c.12C>A (p.Gly4=)
|
|
|
|
NM_000161.3(GCH1):c.137G>A (p.Ser46Asn)
|
|
|
|
NM_000161.3(GCH1):c.138C>A (p.Ser46Arg)
|
|
|
|
NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)
|
rs2040587976
|
|
|
NM_000161.3(GCH1):c.140C>A (p.Ala47Glu)
|
rs2040584415
|
|
|
NM_000161.3(GCH1):c.140C>T (p.Ala47Val)
|
|
|
|
NM_000161.3(GCH1):c.141G>A (p.Ala47=)
|
|
|
|
NM_000161.3(GCH1):c.141G>T (p.Ala47=)
|
|
|
|
NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)
|
rs104894444
|
|
|
NM_000161.3(GCH1):c.145C>T (p.Pro49Ser)
|
|
|
|
NM_000161.3(GCH1):c.153C>A (p.Asp51Glu)
|
rs745516526
|
|
|
NM_000161.3(GCH1):c.154G>A (p.Gly52Ser)
|
|
|
|
NM_000161.3(GCH1):c.154G>T (p.Gly52Cys)
|
|
|
|
NM_000161.3(GCH1):c.156C>T (p.Gly52=)
|
|
|
|
NM_000161.3(GCH1):c.158G>A (p.Trp53Ter)
|
rs2140127425
|
|
|
NM_000161.3(GCH1):c.162G>A (p.Lys54=)
|
|
|
|
NM_000161.3(GCH1):c.163G>A (p.Gly55Ser)
|
rs2140127419
|
|
|
NM_000161.3(GCH1):c.164G>A (p.Gly55Asp)
|
|
|
|
NM_000161.3(GCH1):c.165C>T (p.Gly55=)
|
rs2040583785
|
|
|
NM_000161.3(GCH1):c.168G>A (p.Glu56=)
|
rs2140127407
|
|
|
NM_000161.3(GCH1):c.16G>T (p.Val6Leu)
|
rs1413964407
|
|
|
NM_000161.3(GCH1):c.170G>A (p.Arg57Gln)
|
|
|
|
NM_000161.3(GCH1):c.172C>T (p.Pro58Ser)
|
rs2040583643
|
|
|
NM_000161.3(GCH1):c.174C>T (p.Pro58=)
|
|
|
|
NM_000161.3(GCH1):c.175C>G (p.Arg59Gly)
|
|
|
|
NM_000161.3(GCH1):c.183G>A (p.Glu61=)
|
|
|
|
NM_000161.3(GCH1):c.185del (p.Glu62fs)
|
|
|
|
NM_000161.3(GCH1):c.186G>A (p.Glu62=)
|
|
|
|
NM_000161.3(GCH1):c.186G>T (p.Glu62Asp)
|
rs752590798
|
|
|
NM_000161.3(GCH1):c.186_197delinsA (p.Asp63fs)
|
rs1555362845
|
|
|
NM_000161.3(GCH1):c.187G>A (p.Asp63Asn)
|
|
|
|
NM_000161.3(GCH1):c.192C>T (p.Asn64=)
|
rs1486693649
|
|
|
NM_000161.3(GCH1):c.194A>T (p.Glu65Val)
|
rs2140127337
|
|
|
NM_000161.3(GCH1):c.196C>T (p.Leu66=)
|
|
|
|
NM_000161.3(GCH1):c.197T>C (p.Leu66Pro)
|
rs1042390728
|
|
|
NM_000161.3(GCH1):c.198G>C (p.Leu66=)
|
|
|
|
NM_000161.3(GCH1):c.1A>C (p.Met1Leu)
|
rs1555362907
|
|
|
NM_000161.3(GCH1):c.1A>G (p.Met1Val)
|
rs1555362907
|
|
|
NM_000161.3(GCH1):c.202C>T (p.Leu68Phe)
|
|
|
|
NM_000161.3(GCH1):c.212T>C (p.Leu71Pro)
|
rs1555362843
|
|
|
NM_000161.3(GCH1):c.212del (p.Leu71fs)
|
rs2140127278
|
|
|
NM_000161.3(GCH1):c.215C>G (p.Ala72Gly)
|
|
|
|
NM_000161.3(GCH1):c.220_223del (p.Ala74fs)
|
rs1566687321
|
|
|
NM_000161.3(GCH1):c.229_246del (p.Ser77_Leu82del)
|
rs2140127202
|
|
|
NM_000161.3(GCH1):c.22G>C (p.Ala8Pro)
|
rs529381971
|
|
|
NM_000161.3(GCH1):c.22G>T (p.Ala8Ser)
|
rs529381971
|
|
|
NM_000161.3(GCH1):c.230C>G (p.Ser77Cys)
|
rs748666093
|
|
|
NM_000161.3(GCH1):c.233del (p.Ile78fs)
|
|
|
|
NM_000161.3(GCH1):c.234C>T (p.Ile78=)
|
|
|
|
NM_000161.3(GCH1):c.235C>T (p.Leu79=)
|
|
|
|
NM_000161.3(GCH1):c.238A>T (p.Ser80Cys)
|
rs2140127221
|
|
|
NM_000161.3(GCH1):c.241T>C (p.Ser81Pro)
|
rs2140127208
|
|
|
NM_000161.3(GCH1):c.243G>T (p.Ser81=)
|
rs557028351
|
|
|
NM_000161.3(GCH1):c.246G>C (p.Leu82=)
|
|
|
|
NM_000161.3(GCH1):c.248dup (p.Glu84fs)
|
rs1595031221
|
|
|
NM_000161.3(GCH1):c.250G>T (p.Glu84Ter)
|
rs755556239
|
|
|
NM_000161.3(GCH1):c.251A>G (p.Glu84Gly)
|
rs1595031209
|
|
|
NM_000161.3(GCH1):c.252G>A (p.Glu84=)
|
rs1263510185
|
|
|
NM_000161.3(GCH1):c.255C>T (p.Asn85=)
|
|
|
|
NM_000161.3(GCH1):c.257C>G (p.Pro86Arg)
|
rs1555362836
|
|
|
NM_000161.3(GCH1):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro)
|
rs1595031190
|
|
|
NM_000161.3(GCH1):c.261G>T (p.Gln87His)
|
|
|
|
NM_000161.3(GCH1):c.266A>G (p.Gln89Arg)
|
rs2140127145
|
|
|
NM_000161.3(GCH1):c.268G>A (p.Gly90Arg)
|
|
|
|
NM_000161.3(GCH1):c.270G>A (p.Gly90=)
|
|
|
|
NM_000161.3(GCH1):c.272T>A (p.Leu91Gln)
|
|
|
|
NM_000161.3(GCH1):c.273G>A (p.Leu91=)
|
|
|
|
NM_000161.3(GCH1):c.278dup (p.Thr94fs)
|
rs1555362835
|
|
|
NM_000161.3(GCH1):c.279G>T (p.Lys93Asn)
|
|
|
|
NM_000161.3(GCH1):c.27G>C (p.Pro9=)
|
rs1361472755
|
|
|
NM_000161.3(GCH1):c.27G>T (p.Pro9=)
|
|
|
|
NM_000161.3(GCH1):c.280A>G (p.Thr94Ala)
|
|
|
|
NM_000161.3(GCH1):c.281C>A (p.Thr94Lys)
|
rs1566687244
|
|
|
NM_000161.3(GCH1):c.281C>T (p.Thr94Met)
|
rs1566687244
|
|
|
NM_000161.3(GCH1):c.289A>T (p.Arg97Trp)
|
rs2140127094
|
|
|
NM_000161.3(GCH1):c.293C>T (p.Ala98Val)
|
rs2040580445
|
|
|
NM_000161.3(GCH1):c.295G>C (p.Ala99Pro)
|
rs1566687219
|
|
|
NM_000161.3(GCH1):c.298T>C (p.Ser100Pro)
|
|
|
|
NM_000161.3(GCH1):c.300G>C (p.Ser100=)
|
|
|
|
NM_000161.3(GCH1):c.303C>T (p.Ala101=)
|
|
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
|
NM_000161.3(GCH1):c.307C>T (p.Gln103Ter)
|
|
|
|
NM_000161.3(GCH1):c.30G>A (p.Ala10=)
|
|
|
|
NM_000161.3(GCH1):c.321G>C (p.Lys107Asn)
|
rs1375057499
|
|
|
NM_000161.3(GCH1):c.322G>A (p.Gly108Ser)
|
rs2140127010
|
|
|
NM_000161.3(GCH1):c.323G>A (p.Gly108Asp)
|
rs104894435
|
|
|
NM_000161.3(GCH1):c.324C>A (p.Gly108=)
|
|
|
|
NM_000161.3(GCH1):c.327C>T (p.Tyr109=)
|
|
|
|
NM_000161.3(GCH1):c.33G>A (p.Glu11=)
|
rs2140127730
|
|
|
NM_000161.3(GCH1):c.343+10C>T
|
|
|
|
NM_000161.3(GCH1):c.343+11C>T
|
|
|
|
NM_000161.3(GCH1):c.343+12C>G
|
|
|
|
NM_000161.3(GCH1):c.343+12dup
|
rs759191308
|
|
|
NM_000161.3(GCH1):c.343+13G>T
|
|
|
|
NM_000161.3(GCH1):c.343+14C>G
|
|
|
|
NM_000161.3(GCH1):c.343+14_343+15del
|
|
|
|
NM_000161.3(GCH1):c.343+16G>A
|
|
|
|
NM_000161.3(GCH1):c.343+17G>A
|
|
|
|
NM_000161.3(GCH1):c.343+3C>T
|
|
|
|
NM_000161.3(GCH1):c.343+7G>T
|
|
|
|
NM_000161.3(GCH1):c.343+9G>C
|
|
|
|
NM_000161.3(GCH1):c.343+9G>T
|
|
|
|
NM_000161.3(GCH1):c.344-14G>C
|
|
|
|
NM_000161.3(GCH1):c.344-16715G>A
|
rs11158026
|
|
|
NM_000161.3(GCH1):c.344-16715G>C
|
rs11158026
|
|
|
NM_000161.3(GCH1):c.344-16715G>T
|
rs11158026
|
|
|
NM_000161.3(GCH1):c.344-1G>A
|
rs1555360050
|
|
|
NM_000161.3(GCH1):c.344-1G>C
|
rs1555360050
|
|
|
NM_000161.3(GCH1):c.344-3C>G
|
rs2039977194
|
|
|
NM_000161.3(GCH1):c.344-9del
|
|
|
|
NM_000161.3(GCH1):c.349C>T (p.Leu117=)
|
|
|
|
NM_000161.3(GCH1):c.351A>C (p.Leu117=)
|
|
|
|
NM_000161.3(GCH1):c.355G>A (p.Asp119Asn)
|
|
|
|
NM_000161.3(GCH1):c.360T>A (p.Ala120=)
|
|
|
|
NM_000161.3(GCH1):c.361A>G (p.Ile121Val)
|
|
|
|
NM_000161.3(GCH1):c.367G>A (p.Asp123Asn)
|
rs2140074143
|
|
|
NM_000161.3(GCH1):c.369T>C (p.Asp123=)
|
|
|
|
NM_000161.3(GCH1):c.394G>A (p.Val132Met)
|
|
|
|
NM_000161.3(GCH1):c.395T>C (p.Val132Ala)
|
rs1555360034
|
|
|
NM_000161.3(GCH1):c.395_396del (p.Val132fs)
|
rs2140074097
|
|
|
NM_000161.3(GCH1):c.39G>C (p.Pro13=)
|
|
|
|
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn)
|
rs1353623780
|
|
|
NM_000161.3(GCH1):c.416C>T (p.Ser139Phe)
|
rs144542994
|
|
|
NM_000161.3(GCH1):c.418A>G (p.Met140Val)
|
|
|
|
NM_000161.3(GCH1):c.420G>A (p.Met140Ile)
|
rs1360081603
|
|
|
NM_000161.3(GCH1):c.423T>G (p.Cys141Trp)
|
rs2140074056
|
|
|
NM_000161.3(GCH1):c.432C>T (p.His144=)
|
|
|
|
NM_000161.3(GCH1):c.435G>T (p.Leu145Phe)
|
rs763677193
|
|
|
NM_000161.3(GCH1):c.439C>A (p.Pro147Thr)
|
|
|
|
NM_000161.3(GCH1):c.43G>A (p.Gly15Ser)
|
|
|
|
NM_000161.3(GCH1):c.440C>T (p.Pro147Leu)
|
rs1594989087
|
|
|
NM_000161.3(GCH1):c.440_453+9dup
|
|
|
|
NM_000161.3(GCH1):c.452A>G (p.Lys151Arg)
|
rs2140073994
|
|
|
NM_000161.3(GCH1):c.453+11C>G
|
|
|
|
NM_000161.3(GCH1):c.453+14T>C
|
|
|
|
NM_000161.3(GCH1):c.453+16T>C
|
|
|
|
NM_000161.3(GCH1):c.453+1G>A
|
|
|
|
NM_000161.3(GCH1):c.453+1G>C
|
rs2140073990
|
|
|
NM_000161.3(GCH1):c.453+2T>G
|
rs2140073988
|
|
|
NM_000161.3(GCH1):c.453+6G>T
|
|
|
|
NM_000161.3(GCH1):c.454-11C>T
|
|
|
|
NM_000161.3(GCH1):c.454-13C>G
|
|
|
|
NM_000161.3(GCH1):c.454-16C>T
|
|
|
|
NM_000161.3(GCH1):c.458A>G (p.His153Arg)
|
|
|
|
NM_000161.3(GCH1):c.460A>G (p.Ile154Val)
|
|
|
|
NM_000161.3(GCH1):c.462T>G (p.Ile154Met)
|
rs1566665914
|
|
|
NM_000161.3(GCH1):c.473del (p.Pro158fs)
|
rs2039866628
|
|
|
NM_000161.3(GCH1):c.474T>C (p.Pro158=)
|
|
|
|
NM_000161.3(GCH1):c.476A>G (p.Asn159Ser)
|
|
|
|
NM_000161.3(GCH1):c.480G>A (p.Lys160=)
|
|
|
|
NM_000161.3(GCH1):c.486C>A (p.Val162=)
|
|
|
|
NM_000161.3(GCH1):c.491G>C (p.Gly164Ala)
|
|
|
|
NM_000161.3(GCH1):c.493C>T (p.Leu165Phe)
|
|
|
|
NM_000161.3(GCH1):c.498C>T (p.Ser166=)
|
|
|
|
NM_000161.3(GCH1):c.49del (p.Arg17fs)
|
|
|
|
NM_000161.3(GCH1):c.506C>G (p.Ala169Gly)
|
|
|
|
NM_000161.3(GCH1):c.507G>C (p.Ala169=)
|
rs150158277
|
|
|
NM_000161.3(GCH1):c.508A>G (p.Arg170Gly)
|
rs2039865673
|
|
|
NM_000161.3(GCH1):c.509+12T>A
|
|
|
|
NM_000161.3(GCH1):c.509+12T>C
|
rs760292517
|
|
|
NM_000161.3(GCH1):c.509+14T>C
|
|
|
|
NM_000161.3(GCH1):c.509+16C>T
|
|
|
|
NM_000161.3(GCH1):c.509+1_509+3delinsTGTGAG
|
rs1594982939
|
|
|
NM_000161.3(GCH1):c.509+20G>C
|
|
|
|
NM_000161.3(GCH1):c.509+6T>C
|
rs2140063307
|
|
|
NM_000161.3(GCH1):c.509+9G>A
|
|
|
|
NM_000161.3(GCH1):c.509+9G>T
|
|
|
|
NM_000161.3(GCH1):c.510-13C>A
|
|
|
|
NM_000161.3(GCH1):c.510-13C>G
|
rs1172601960
|
|
|
NM_000161.3(GCH1):c.510-18C>T
|
|
|
|
NM_000161.3(GCH1):c.510-19A>G
|
rs778122258
|
|
|
NM_000161.3(GCH1):c.510-1G>A
|
rs1555358604
|
|
|
NM_000161.3(GCH1):c.510-8T>C
|
rs2140043752
|
|
|
NM_000161.3(GCH1):c.510-9C>G
|
|
|
|
NM_000161.3(GCH1):c.514G>T (p.Val172Leu)
|
rs1566660315
|
|
|
NM_000161.3(GCH1):c.525T>C (p.Tyr175=)
|
|
|
|
NM_000161.3(GCH1):c.532A>G (p.Arg178Gly)
|
rs1594971274
|
|
|
NM_000161.3(GCH1):c.532A>T (p.Arg178Ter)
|
rs1594971274
|
|
|
NM_000161.3(GCH1):c.532_537del (p.Arg178_Leu179del)
|
rs2039654207
|
|
|
NM_000161.3(GCH1):c.539A>G (p.Gln180Arg)
|
rs1566660298
|
|
|
NM_000161.3(GCH1):c.541+10A>G
|
|
|
|
NM_000161.3(GCH1):c.541+1G>C
|
rs1555358599
|
|
|
NM_000161.3(GCH1):c.541+1G>T
|
rs1555358599
|
|
|
NM_000161.3(GCH1):c.541G>A (p.Val181Ile)
|
|
|
|
NM_000161.3(GCH1):c.542-12T>C
|
|
|
|
NM_000161.3(GCH1):c.542-13A>G
|
|
|
|
NM_000161.3(GCH1):c.542-20G>A
|
|
|
|
NM_000161.3(GCH1):c.542-9C>T
|
|
|
|
NM_000161.3(GCH1):c.549G>A (p.Glu183=)
|
|
|
|
NM_000161.3(GCH1):c.550C>T (p.Arg184Cys)
|
rs2140041841
|
|
|
NM_000161.3(GCH1):c.551G>A (p.Arg184His)
|
rs104894445
|
|
|
NM_000161.3(GCH1):c.573A>G (p.Val191=)
|
|
|
|
NM_000161.3(GCH1):c.575C>T (p.Ala192Val)
|
|
|
|
NM_000161.3(GCH1):c.578T>A (p.Ile193Asn)
|
rs2140041744
|
|
|
NM_000161.3(GCH1):c.578_583del (p.Ile193_Glu195delinsLys)
|
rs2140041733
|
|
|
NM_000161.3(GCH1):c.581C>T (p.Thr194Met)
|
|
|
|
NM_000161.3(GCH1):c.591G>C (p.Leu197Phe)
|
|
|
|
NM_000161.3(GCH1):c.592C>T (p.Arg198Trp)
|
rs752447862
|
|
|
NM_000161.3(GCH1):c.594G>T (p.Arg198=)
|
|
|
|
NM_000161.3(GCH1):c.596C>T (p.Pro199Leu)
|
rs2140041686
|
|
|
NM_000161.3(GCH1):c.599C>G (p.Ala200Gly)
|
|
|
|
NM_000161.3(GCH1):c.601G>C (p.Gly201Arg)
|
|
|
|
NM_000161.3(GCH1):c.606C>T (p.Val202=)
|
rs1171007081
|
|
|
NM_000161.3(GCH1):c.607G>A (p.Gly203Arg)
|
rs988395114
|
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
|
NM_000161.3(GCH1):c.615G>A (p.Val205=)
|
|
|
|
NM_000161.3(GCH1):c.617T>C (p.Val206Ala)
|
rs773159175
|
|
|
NM_000161.3(GCH1):c.621A>T (p.Glu207Asp)
|
rs2140041594
|
|
|
NM_000161.3(GCH1):c.626+17C>G
|
rs2140041535
|
|
|
NM_000161.3(GCH1):c.626+18T>A
|
|
|
|
NM_000161.3(GCH1):c.626+1G>A
|
rs1555358507
|
|
|
NM_000161.3(GCH1):c.626+1G>T
|
rs1555358507
|
|
|
NM_000161.3(GCH1):c.626+2T>C
|
|
|
|
NM_000161.3(GCH1):c.626+5G>A
|
|
|
|
NM_000161.3(GCH1):c.626+5G>C
|
rs1594970015
|
|
|
NM_000161.3(GCH1):c.626+6T>G
|
|
|
|
NM_000161.3(GCH1):c.626+7C>G
|
|
|
|
NM_000161.3(GCH1):c.626+7C>T
|
|
|
|
NM_000161.3(GCH1):c.626+9G>C
|
|
|
|
NM_000161.3(GCH1):c.626+9G>T
|
rs374007793
|
|
|
NM_000161.3(GCH1):c.626C>T (p.Thr209Ile)
|
rs141634133
|
|
|
NM_000161.3(GCH1):c.627-10del
|
|
|
|
NM_000161.3(GCH1):c.627-14_627-10del
|
|
|
|
NM_000161.3(GCH1):c.627-19G>T
|
|
|
|
NM_000161.3(GCH1):c.627-2A>G
|
|
|
|
NM_000161.3(GCH1):c.627-9_627-7del
|
|
|
|
NM_000161.3(GCH1):c.631A>G (p.Met211Val)
|
|
|
|
NM_000161.3(GCH1):c.631_632del (p.Met211fs)
|
rs886039379
|
|
|
NM_000161.3(GCH1):c.634T>C (p.Cys212Arg)
|
rs2039604113
|
|
|
NM_000161.3(GCH1):c.635G>A (p.Cys212Tyr)
|
|
|
|
NM_000161.3(GCH1):c.641T>C (p.Val214Ala)
|
rs2140038925
|
|
|
NM_000161.3(GCH1):c.642A>G (p.Val214=)
|
|
|
|
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter)
|
rs41298440
|
|
|
NM_000161.3(GCH1):c.647G>C (p.Arg216Pro)
|
rs2039603118
|
|
|
NM_000161.3(GCH1):c.650G>T (p.Gly217Val)
|
rs2039603046
|
|
|
NM_000161.3(GCH1):c.661A>G (p.Met221Val)
|
|
|
|
NM_000161.3(GCH1):c.666C>T (p.Asn222=)
|
|
|
|
NM_000161.3(GCH1):c.66C>T (p.Phe22=)
|
|
|
|
NM_000161.3(GCH1):c.673del (p.Thr225fs)
|
rs2140038846
|
|
|
NM_000161.3(GCH1):c.675T>A (p.Thr225=)
|
|
|
|
NM_000161.3(GCH1):c.676G>C (p.Val226Leu)
|
rs2140038840
|
|
|
NM_000161.3(GCH1):c.687A>G (p.Thr229=)
|
|
|
|
NM_000161.3(GCH1):c.689T>C (p.Met230Thr)
|
rs2140038798
|
|
|
NM_000161.3(GCH1):c.694G>C (p.Gly232Arg)
|
|
|
|
NM_000161.3(GCH1):c.695G>A (p.Gly232Asp)
|
rs2140038792
|
|
|
NM_000161.3(GCH1):c.69C>G (p.Pro23=)
|
|
|
|
NM_000161.3(GCH1):c.705G>C (p.Arg235=)
|
|
|
|
NM_000161.3(GCH1):c.709G>A (p.Asp237Asn)
|
rs2140038782
|
|
|
NM_000161.3(GCH1):c.712C>A (p.Pro238Thr)
|
rs2140038781
|
|
|
NM_000161.3(GCH1):c.714A>T (p.Pro238=)
|
|
|
|
NM_000161.3(GCH1):c.721C>T (p.Arg241Trp)
|
|
|
|
NM_000161.3(GCH1):c.722G>A (p.Arg241Gln)
|
|
|
|
NM_000161.3(GCH1):c.724G>T (p.Glu242Ter)
|
rs1296731359
|
|
|
NM_000161.3(GCH1):c.72G>A (p.Glu24=)
|
|
|
|
NM_000161.3(GCH1):c.732C>T (p.Phe244=)
|
rs745929907
|
|
|
NM_000161.3(GCH1):c.73C>T (p.Arg25Trp)
|
|
|
|
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly)
|
rs2039600745
|
|
|
NM_000161.3(GCH1):c.747_748delinsCT (p.Arg249_Ser250delinsSerCys)
|
|
|
|
NM_000161.3(GCH1):c.750C>T (p.Ser250=)
|
|
|
|
NM_000161.3(GCH1):c.751T>C (p.Ter251Arg)
|
|
|
|
NM_000161.3(GCH1):c.752G>A (p.Ter251=)
|
|
|
|
NM_000161.3(GCH1):c.753A>C (p.Ter251Cys)
|
rs1555358379
|
|
|
NM_000161.3(GCH1):c.75G>A (p.Arg25=)
|
|
|
|
NM_000161.3(GCH1):c.75G>C (p.Arg25=)
|
|
|
|
NM_000161.3(GCH1):c.76del (p.Asp26fs)
|
rs1595031674
|
|
|
NM_000161.3(GCH1):c.82C>T (p.Pro28Ser)
|
|
|
|
NM_000161.3(GCH1):c.90C>G (p.Pro30=)
|
|
|
|
NM_000161.3(GCH1):c.90C>T (p.Pro30=)
|
|
|
|
NM_000161.3(GCH1):c.91G>C (p.Gly31Arg)
|
|
|
|
NM_000161.3(GCH1):c.93G>A (p.Gly31=)
|
|
|
|
NM_000161.3(GCH1):c.93G>T (p.Gly31=)
|
|
|
|
NM_000161.3(GCH1):c.96C>G (p.Pro32=)
|
|
|
|
NM_000161.3(GCH1):c.96C>T (p.Pro32=)
|
|
|
|
NM_000161.3(GCH1):c.97A>T (p.Ser33Cys)
|
rs1373130817
|
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
|
NM_000170.3(GLDC):c.1007T>C (p.Val336Ala)
|
rs1563856669
|
|
|
NM_000170.3(GLDC):c.1008C>A (p.Val336=)
|
|
|
|
NM_000170.3(GLDC):c.1009C>A (p.Arg337=)
|
|
|
|
NM_000170.3(GLDC):c.1011A>G (p.Arg337=)
|
rs2129895844
|
|
|
NM_000170.3(GLDC):c.1020G>C (p.Leu340Phe)
|
|
|
|
NM_000170.3(GLDC):c.1023G>A (p.Val341=)
|
rs2129895800
|
|
|
NM_000170.3(GLDC):c.102C>T (p.Ser34=)
|
|
|
|
NM_000170.3(GLDC):c.1035T>C (p.Pro345=)
|
|
|
|
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
|
|
|
|
NM_000170.3(GLDC):c.1041A>C (p.Arg347Ser)
|
rs1818691758
|
|
|
NM_000170.3(GLDC):c.1048G>C (p.Gly350Arg)
|
|
|
|
NM_000170.3(GLDC):c.1051del (p.Gly350_Val351insTer)
|
rs2129895643
|
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
|
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
|
|
|
|
NM_000170.3(GLDC):c.1057_1058+13del
|
|
|
|
NM_000170.3(GLDC):c.1058+10C>G
|
rs774499942
|
|
|
NM_000170.3(GLDC):c.1058+10del
|
|
|
|
NM_000170.3(GLDC):c.1058+12C>A
|
rs1043292818
|
|
|
NM_000170.3(GLDC):c.1058+12C>T
|
rs1043292818
|
|
|
NM_000170.3(GLDC):c.1058+13A>G
|
|
|
|
NM_000170.3(GLDC):c.1058+16T>C
|
|
|
|
NM_000170.3(GLDC):c.1058+17T>C
|
|
|
|
NM_000170.3(GLDC):c.1058+2T>A
|
rs1587959976
|
|
|
NM_000170.3(GLDC):c.1058+2T>C
|
|
|
|
NM_000170.3(GLDC):c.1058+9G>A
|
rs1363690964
|
|
|
NM_000170.3(GLDC):c.1058+9G>C
|
rs1363690964
|
|
|
NM_000170.3(GLDC):c.1058G>A (p.Arg353Lys)
|
|
|
|
NM_000170.3(GLDC):c.1059-14T>C
|
|
|
|
NM_000170.3(GLDC):c.1059-16C>T
|
|
|
|
NM_000170.3(GLDC):c.1059-1G>C
|
rs1587958061
|
|
|
NM_000170.3(GLDC):c.1059-4G>A
|
|
|
|
NM_000170.3(GLDC):c.1059-6G>A
|
|
|
|
NM_000170.3(GLDC):c.1059-6del
|
|
|
|
NM_000170.3(GLDC):c.1063G>A (p.Ala355Thr)
|
rs1291866387
|
|
|
NM_000170.3(GLDC):c.1064C>T (p.Ala355Val)
|
|
|
|
NM_000170.3(GLDC):c.1068T>C (p.Thr356=)
|
rs2129885580
|
|
|
NM_000170.3(GLDC):c.1069G>A (p.Gly357Arg)
|
rs941998596
|
|
|
NM_000170.3(GLDC):c.106G>C (p.Asp36His)
|
rs573883784
|
|
|
NM_000170.3(GLDC):c.1074A>G (p.Lys358=)
|
|
|
|
NM_000170.3(GLDC):c.1075G>A (p.Glu359Lys)
|
rs1818624630
|
|
|
NM_000170.3(GLDC):c.107A>G (p.Asp36Gly)
|
|
|
|
NM_000170.3(GLDC):c.1080G>A (p.Val360=)
|
rs745502236
|
|
|
NM_000170.3(GLDC):c.1080G>C (p.Val360=)
|
rs745502236
|
|
|
NM_000170.3(GLDC):c.1083T>G (p.Tyr361Ter)
|
rs2129885505
|
|
|
NM_000170.3(GLDC):c.1084C>T (p.Arg362Cys)
|
rs10975674
|
|
|
NM_000170.3(GLDC):c.1087C>A (p.Leu363Ile)
|
rs2129885472
|
|
|
NM_000170.3(GLDC):c.1089T>G (p.Leu363=)
|
|
|
|
NM_000170.3(GLDC):c.108C>T (p.Asp36=)
|
rs1819723828
|
|
|
NM_000170.3(GLDC):c.1094T>C (p.Leu365Pro)
|
|
|
|
NM_000170.3(GLDC):c.1096C>T (p.Gln366Ter)
|
|
|
|
NM_000170.3(GLDC):c.1097A>G (p.Gln366Arg)
|
|
|
|
NM_000170.3(GLDC):c.109A>C (p.Ser37Arg)
|
rs1819723770
|
|
|
NM_000170.3(GLDC):c.10T>C (p.Cys4Arg)
|
rs2130033101
|
|
|
NM_000170.3(GLDC):c.1100C>A (p.Thr367Asn)
|
rs1183976692
|
|
|
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile)
|
rs1183976692
|
|
|
NM_000170.3(GLDC):c.1101C>A (p.Thr367=)
|
rs2129885400
|
|
|
NM_000170.3(GLDC):c.1101C>T (p.Thr367=)
|
|
|
|
NM_000170.3(GLDC):c.1108C>A (p.Gln370Lys)
|
rs570097430
|
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
|
NM_000170.3(GLDC):c.1118G>A (p.Arg373Gln)
|
rs2129885269
|
|
|
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
|
|
|
|
NM_000170.3(GLDC):c.1119G>C (p.Arg373=)
|
|
|
|
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)
|
rs1300550278
|
|
|
NM_000170.3(GLDC):c.1128G>A (p.Lys376=)
|
rs751362445
|
|
|
NM_000170.3(GLDC):c.1128G>T (p.Lys376Asn)
|
|
|
|
NM_000170.3(GLDC):c.1137C>T (p.Ser379=)
|
rs762926339
|
|
|
NM_000170.3(GLDC):c.1142T>C (p.Ile381Thr)
|
rs775502762
|
|
|
NM_000170.3(GLDC):c.1143C>T (p.Ile381=)
|
rs755376052
|
|
|
NM_000170.3(GLDC):c.1143del (p.Cys382fs)
|
|
|
|
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
|
|
|
|
NM_000170.3(GLDC):c.1148C>T (p.Thr383Ile)
|
|
|
|
NM_000170.3(GLDC):c.1155+12G>T
|
|
|
|
NM_000170.3(GLDC):c.1155+14C>G
|
|
|
|
NM_000170.3(GLDC):c.1155+16G>A
|
|
|
|
NM_000170.3(GLDC):c.1155+16G>C
|
rs1370343582
|
|
|
NM_000170.3(GLDC):c.1155+17A>G
|
|
|
|
NM_000170.3(GLDC):c.1155+18C>T
|
|
|
|
NM_000170.3(GLDC):c.1155+7C>T
|
|
|
|
NM_000170.3(GLDC):c.1155+8A>C
|
rs2129885109
|
|
|
NM_000170.3(GLDC):c.1155+9C>G
|
rs994997633
|
|
|
NM_000170.3(GLDC):c.1155+9C>T
|
rs994997633
|
|
|
NM_000170.3(GLDC):c.1156-14T>C
|
rs1243954142
|
|
|
NM_000170.3(GLDC):c.1156-17A>T
|
|
|
|
NM_000170.3(GLDC):c.1156-20T>C
|
|
|
|
NM_000170.3(GLDC):c.1156-4T>G
|
rs2129862068
|
|
|
NM_000170.3(GLDC):c.1156-4_1156-3del
|
|
|
|
NM_000170.3(GLDC):c.1156-7C>A
|
rs150095531
|
|
|
NM_000170.3(GLDC):c.1156G>A (p.Ala386Thr)
|
|
|
|
NM_000170.3(GLDC):c.1158C>A (p.Ala386=)
|
|
|
|
NM_000170.3(GLDC):c.1158C>T (p.Ala386=)
|
|
|
|
NM_000170.3(GLDC):c.1161C>A (p.Leu387=)
|
rs781613958
|
|
|
NM_000170.3(GLDC):c.1161C>G (p.Leu387=)
|
rs781613958
|
|
|
NM_000170.3(GLDC):c.1162T>C (p.Leu388=)
|
|
|
|
NM_000170.3(GLDC):c.1167G>A (p.Ala389=)
|
rs199901045
|
|
|
NM_000170.3(GLDC):c.1167G>C (p.Ala389=)
|
rs199901045
|
|
|
NM_000170.3(GLDC):c.1179C>T (p.Ala393=)
|
|
|
|
NM_000170.3(GLDC):c.1183T>C (p.Phe395Leu)
|
rs767200188
|
|
|
NM_000170.3(GLDC):c.1185T>C (p.Phe395=)
|
|
|
|
NM_000170.3(GLDC):c.1188A>G (p.Ala396=)
|
rs2129861872
|
|
|
NM_000170.3(GLDC):c.118G>A (p.Gly40Ser)
|
|
|
|
NM_000170.3(GLDC):c.1191C>T (p.Ile397=)
|
|
|
|
NM_000170.3(GLDC):c.1194C>G (p.Tyr398Ter)
|
|
|
|
NM_000170.3(GLDC):c.1196A>G (p.His399Arg)
|
|
|
|
NM_000170.3(GLDC):c.1202C>T (p.Ser401Phe)
|
rs1563852496
|
|
|
NM_000170.3(GLDC):c.1203C>T (p.Ser401=)
|
rs768917100
|
|
|
NM_000170.3(GLDC):c.1205A>G (p.His402Arg)
|
rs763451428
|
|
|
NM_000170.3(GLDC):c.1206T>A (p.His402Gln)
|
rs776207334
|
|
|
NM_000170.3(GLDC):c.120C>A (p.Gly40=)
|
|
|
|
NM_000170.3(GLDC):c.120C>G (p.Gly40=)
|
rs775879413
|
|
|
NM_000170.3(GLDC):c.1214A>G (p.Glu405Gly)
|
rs1387648444
|
|
|
NM_000170.3(GLDC):c.1217A>G (p.His406Arg)
|
rs1818464686
|
|
|
NM_000170.3(GLDC):c.1218T>C (p.His406=)
|
rs2129861696
|
|
|
NM_000170.3(GLDC):c.1221T>A (p.Ile407=)
|
|
|
|
NM_000170.3(GLDC):c.1222G>T (p.Ala408Ser)
|
rs1387492186
|
|
|
NM_000170.3(GLDC):c.1227G>A (p.Arg409=)
|
rs778700604
|
|
|
NM_000170.3(GLDC):c.1227G>C (p.Arg409Ser)
|
|
|
|
NM_000170.3(GLDC):c.122del (p.Gly41fs)
|
rs2130032358
|
|
|
NM_000170.3(GLDC):c.1230G>T (p.Arg410Ser)
|
|
|
|
NM_000170.3(GLDC):c.1233A>G (p.Val411=)
|
|
|
|
NM_000170.3(GLDC):c.1237A>T (p.Asn413Tyr)
|
|
|
|
NM_000170.3(GLDC):c.1239T>C (p.Asn413=)
|
|
|
|
NM_000170.3(GLDC):c.1242C>G (p.Ala414=)
|
rs761471932
|
|
|
NM_000170.3(GLDC):c.1254G>A (p.Leu418=)
|
|
|
|
NM_000170.3(GLDC):c.1254G>C (p.Leu418Phe)
|
|
|
|
NM_000170.3(GLDC):c.1256C>G (p.Ser419Ter)
|
rs1227030484
|
|
|
NM_000170.3(GLDC):c.1257A>G (p.Ser419=)
|
rs1818463744
|
|
|
NM_000170.3(GLDC):c.1261+12A>G
|
|
|
|
NM_000170.3(GLDC):c.1261+13T>C
|
|
|
|
NM_000170.3(GLDC):c.1261+14C>G
|
|
|
|
NM_000170.3(GLDC):c.1261+1G>C
|
|
|
|
NM_000170.3(GLDC):c.1261+2T>A
|
rs1818463608
|
|
|
NM_000170.3(GLDC):c.1261+3G>A
|
rs763285478
|
|
|
NM_000170.3(GLDC):c.1261+5G>A
|
|
|
|
NM_000170.3(GLDC):c.1261+6T>A
|
rs931422809
|
|
|
NM_000170.3(GLDC):c.1261+9G>T
|
rs2129861490
|
|
|
NM_000170.3(GLDC):c.1262-11A>C
|
|
|
|
NM_000170.3(GLDC):c.1262-11A>G
|
|
|
|
NM_000170.3(GLDC):c.1262-12T>C
|
|
|
|
NM_000170.3(GLDC):c.1262-13C>T
|
|
|
|
NM_000170.3(GLDC):c.1262-15T>C
|
|
|
|
NM_000170.3(GLDC):c.1262-16C>A
|
|
|
|
NM_000170.3(GLDC):c.1262-16C>T
|
|
|
|
NM_000170.3(GLDC):c.1262-17T>A
|
rs2129853883
|
|
|
NM_000170.3(GLDC):c.1262-17T>C
|
|
|
|
NM_000170.3(GLDC):c.1262-19G>C
|
|
|
|
NM_000170.3(GLDC):c.1262-19G>T
|
|
|
|
NM_000170.3(GLDC):c.1262-20G>A
|
|
|
|
NM_000170.3(GLDC):c.1262-4G>A
|
rs549797631
|
|
|
NM_000170.3(GLDC):c.1262-4G>T
|
rs549797631
|
|
|
NM_000170.3(GLDC):c.1262-7T>C
|
|
|
|
NM_000170.3(GLDC):c.1262-9C>T
|
|
|
|
NM_000170.3(GLDC):c.1262-9_1262-8insA
|
rs2129853829
|
|
|
NM_000170.3(GLDC):c.1263T>A (p.Gly421=)
|
rs1403086128
|
|
|
NM_000170.3(GLDC):c.1263T>C (p.Gly421=)
|
rs1403086128
|
|
|
NM_000170.3(GLDC):c.1264C>A (p.Leu422Ile)
|
rs1554647026
|
|
|
NM_000170.3(GLDC):c.1266C>T (p.Leu422=)
|
|
|
|
NM_000170.3(GLDC):c.1267A>G (p.Lys423Glu)
|
|
|
|
NM_000170.3(GLDC):c.1269G>A (p.Lys423=)
|
rs1334975700
|
|
|
NM_000170.3(GLDC):c.1271G>A (p.Arg424Gln)
|
rs2129853745
|
|
|
NM_000170.3(GLDC):c.1272A>C (p.Arg424=)
|
|
|
|
NM_000170.3(GLDC):c.1274C>T (p.Ala425Val)
|
|
|
|
NM_000170.3(GLDC):c.1278G>A (p.Gly426=)
|
rs1554647023
|
|
|
NM_000170.3(GLDC):c.127G>T (p.Asp43Tyr)
|
rs1819723104
|
|
|
NM_000170.3(GLDC):c.1284A>C (p.Gln428His)
|
|
|
|
NM_000170.3(GLDC):c.1285C>G (p.Leu429Val)
|
|
|
|
NM_000170.3(GLDC):c.1287C>G (p.Leu429=)
|
rs2129853644
|
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
|
NM_000170.3(GLDC):c.1290G>C (p.Gln430His)
|
rs1408480389
|
|
|
NM_000170.3(GLDC):c.1293del (p.His431fs)
|
|
|
|
NM_000170.3(GLDC):c.1296C>T (p.Asp432=)
|
rs766465179
|
|
|
NM_000170.3(GLDC):c.130A>T (p.Ser44Cys)
|
rs2130032299
|
|
|
NM_000170.3(GLDC):c.1311C>G (p.Thr437=)
|
rs1317859936
|
|
|
NM_000170.3(GLDC):c.1311C>T (p.Thr437=)
|
rs1317859936
|
|
|
NM_000170.3(GLDC):c.1314G>C (p.Leu438Phe)
|
rs1286813560
|
|
|
NM_000170.3(GLDC):c.1319T>C (p.Ile440Thr)
|
rs386833523
|
|
|
NM_000170.3(GLDC):c.1323G>A (p.Gln441=)
|
|
|
|
NM_000170.3(GLDC):c.1326T>C (p.Cys442=)
|
|
|
|
NM_000170.3(GLDC):c.1336G>A (p.Val446Met)
|
|
|
|
NM_000170.3(GLDC):c.1338G>A (p.Val446=)
|
|
|
|
NM_000170.3(GLDC):c.1340A>T (p.Lys447Met)
|
rs1161073883
|
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
|
NM_000170.3(GLDC):c.1344G>A (p.Glu448=)
|
rs758064858
|
|
|
NM_000170.3(GLDC):c.1353C>T (p.Gly451=)
|
|
|
|
NM_000170.3(GLDC):c.1356G>A (p.Arg452=)
|
rs1818404846
|
|
|
NM_000170.3(GLDC):c.1359C>G (p.Ala453=)
|
|
|
|
NM_000170.3(GLDC):c.1360G>A (p.Ala454Thr)
|
|
|
|
NM_000170.3(GLDC):c.1363C>A (p.Gln455Lys)
|
rs1818404451
|
|
|
NM_000170.3(GLDC):c.1364A>G (p.Gln455Arg)
|
|
|
|
NM_000170.3(GLDC):c.1368G>C (p.Arg456=)
|
|
|
|
NM_000170.3(GLDC):c.1370A>G (p.Gln457Arg)
|
|
|
|
NM_000170.3(GLDC):c.1371G>A (p.Gln457=)
|
rs2129853083
|
|
|
NM_000170.3(GLDC):c.1378T>G (p.Phe460Val)
|
rs2129853060
|
|
|
NM_000170.3(GLDC):c.1381C>A (p.Arg461=)
|
rs761957837
|
|
|
NM_000170.3(GLDC):c.1383G>C (p.Arg461=)
|
|
|
|
NM_000170.3(GLDC):c.1386T>C (p.Leu462=)
|
|
|
|
NM_000170.3(GLDC):c.1388T>C (p.Phe463Ser)
|
rs1818403390
|
|
|
NM_000170.3(GLDC):c.1394A>G (p.Asp465Gly)
|
rs2129852952
|
|
|
NM_000170.3(GLDC):c.1398C>A (p.Gly466=)
|
|
|
|
NM_000170.3(GLDC):c.139G>A (p.Ala47Thr)
|
|
|
|
NM_000170.3(GLDC):c.139G>C (p.Ala47Pro)
|
|
|
|
NM_000170.3(GLDC):c.13G>T (p.Ala5Ser)
|
|
|
|
NM_000170.3(GLDC):c.1401+10del
|
|
|
|
NM_000170.3(GLDC):c.1401+17G>A
|
|
|
|
NM_000170.3(GLDC):c.1401+17G>C
|
rs2129852854
|
|
|
NM_000170.3(GLDC):c.1401+18T>C
|
|
|
|
NM_000170.3(GLDC):c.1401+19A>G
|
|
|
|
NM_000170.3(GLDC):c.1401+5G>T
|
|
|
|
NM_000170.3(GLDC):c.1402-12G>C
|
|
|
|
NM_000170.3(GLDC):c.1402-13T>G
|
|
|
|
NM_000170.3(GLDC):c.1402-14T>A
|
|
|
|
NM_000170.3(GLDC):c.1402-16G>T
|
|
|
|
NM_000170.3(GLDC):c.1402-1G>A
|
rs386833525
|
|
|
NM_000170.3(GLDC):c.1402-3T>G
|
|
|
|
NM_000170.3(GLDC):c.1411T>C (p.Ser471Pro)
|
rs2129850481
|
|
|
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
|
|
|
|
NM_000170.3(GLDC):c.1413T>C (p.Ser471=)
|
|
|
|
NM_000170.3(GLDC):c.1416T>C (p.Leu472=)
|
|
|
|
NM_000170.3(GLDC):c.1419T>C (p.Asp473=)
|
rs2129850459
|
|
|
NM_000170.3(GLDC):c.141T>A (p.Ala47=)
|
rs1819722643
|
|
|
NM_000170.3(GLDC):c.141T>G (p.Ala47=)
|
|
|
|
NM_000170.3(GLDC):c.1428C>A (p.Val476=)
|
|
|
|
NM_000170.3(GLDC):c.1438del (p.Asp480fs)
|
|
|
|
NM_000170.3(GLDC):c.1441C>T (p.Leu481=)
|
|
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
|
NM_000170.3(GLDC):c.1446C>G (p.Asp482Glu)
|
rs201147701
|
|
|
NM_000170.3(GLDC):c.1450T>C (p.Leu484=)
|
|
|
|
NM_000170.3(GLDC):c.1455G>A (p.Leu485=)
|
|
|
|
NM_000170.3(GLDC):c.145G>T (p.Ala49Ser)
|
|
|
|
NM_000170.3(GLDC):c.1464T>C (p.Phe488=)
|
|
|
|
NM_000170.3(GLDC):c.1466G>A (p.Gly489Asp)
|
rs767519430
|
|
|
NM_000170.3(GLDC):c.1470T>G (p.Cys490Trp)
|
rs1183108459
|
|
|
NM_000170.3(GLDC):c.1471G>A (p.Glu491Lys)
|
rs1818387020
|
|
|
NM_000170.3(GLDC):c.1476A>T (p.Ser492=)
|
rs768290485
|
|
|
NM_000170.3(GLDC):c.1479T>C (p.Ser493=)
|
|
|
|
NM_000170.3(GLDC):c.147C>A (p.Ala49=)
|
|
|
|
NM_000170.3(GLDC):c.147C>G (p.Ala49=)
|
|
|
|
NM_000170.3(GLDC):c.1482+11T>C
|
|
|
|
NM_000170.3(GLDC):c.1482+18A>C
|
rs770032700
|
|
|
NM_000170.3(GLDC):c.1482+18A>G
|
|
|
|
NM_000170.3(GLDC):c.1482+20G>A
|
|
|
|
NM_000170.3(GLDC):c.1482+6T>C
|
|
|
|
NM_000170.3(GLDC):c.1483-13G>A
|
|
|
|
NM_000170.3(GLDC):c.1483-13_1483-12del
|
|
|
|
NM_000170.3(GLDC):c.1483-16dup
|
|
|
|
NM_000170.3(GLDC):c.1483-19C>G
|
|
|
|
NM_000170.3(GLDC):c.1483-19C>T
|
|
|
|
NM_000170.3(GLDC):c.1483-3C>G
|
|
|
|
NM_000170.3(GLDC):c.1483-5T>C
|
rs2129840025
|
|
|
NM_000170.3(GLDC):c.1483-7C>T
|
rs1818331244
|
|
|
NM_000170.3(GLDC):c.1483-9C>T
|
rs2129840047
|
|
|
NM_000170.3(GLDC):c.1483G>C (p.Glu495Gln)
|
rs1554646734
|
|
|
NM_000170.3(GLDC):c.1484_1489del
|
rs778109389
|
|
|
NM_000170.3(GLDC):c.1488G>T (p.Leu496=)
|
|
|
|
NM_000170.3(GLDC):c.1489G>A (p.Val497Ile)
|
|
|
|
NM_000170.3(GLDC):c.1489G>T (p.Val497Phe)
|
rs1389059785
|
|
|
NM_000170.3(GLDC):c.1491T>C (p.Val497=)
|
|
|
|
NM_000170.3(GLDC):c.1495G>A (p.Glu499Lys)
|
|
|
|
NM_000170.3(GLDC):c.1505G>C (p.Gly502Ala)
|
|
|
|
NM_000170.3(GLDC):c.150G>T (p.Ser50=)
|
rs768354829
|
|
|
NM_000170.3(GLDC):c.1512G>C (p.Glu504Asp)
|
|
|
|
NM_000170.3(GLDC):c.1514G>A (p.Cys505Tyr)
|
|
|
|
NM_000170.3(GLDC):c.1515C>T (p.Cys505=)
|
rs2129839857
|
|
|
NM_000170.3(GLDC):c.1530G>C (p.Gly510=)
|
|
|
|
NM_000170.3(GLDC):c.1530G>T (p.Gly510=)
|
|
|
|
NM_000170.3(GLDC):c.1536G>T (p.Val512=)
|
|
|
|
NM_000170.3(GLDC):c.1539C>G (p.Phe513Leu)
|
|
|
|
NM_000170.3(GLDC):c.153C>T (p.Arg51=)
|
|
|
|
NM_000170.3(GLDC):c.1543A>C (p.Arg515=)
|
|
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
|
NM_000170.3(GLDC):c.1551C>T (p.Ser517=)
|
rs750825656
|
|
|
NM_000170.3(GLDC):c.1553C>G (p.Pro518Arg)
|
rs761064507
|
|
|
NM_000170.3(GLDC):c.1553C>T (p.Pro518Leu)
|
rs761064507
|
|
|
NM_000170.3(GLDC):c.1554G>A (p.Pro518=)
|
rs377219563
|
|
|
NM_000170.3(GLDC):c.1554G>C (p.Pro518=)
|
rs377219563
|
|
|
NM_000170.3(GLDC):c.1554G>T (p.Pro518=)
|
|
|
|
NM_000170.3(GLDC):c.1563C>A (p.Thr521=)
|
rs768689997
|
|
|
NM_000170.3(GLDC):c.1563C>T (p.Thr521=)
|
rs768689997
|
|
|
NM_000170.3(GLDC):c.1566T>A (p.His522Gln)
|
|
|
|
NM_000170.3(GLDC):c.156C>A (p.Leu52=)
|
rs779860452
|
|
|
NM_000170.3(GLDC):c.1576A>C (p.Asn526His)
|
rs898444750
|
|
|
NM_000170.3(GLDC):c.1576A>T (p.Asn526Tyr)
|
|
|
|
NM_000170.3(GLDC):c.1579A>C (p.Ser527Arg)
|
|
|
|
NM_000170.3(GLDC):c.1580+13T>C
|
rs1563849682
|
|
|
NM_000170.3(GLDC):c.1580+15T>G
|
|
|
|
NM_000170.3(GLDC):c.1580+16G>T
|
rs1818327175
|
|
|
NM_000170.3(GLDC):c.1580+17T>C
|
|
|
|
NM_000170.3(GLDC):c.1580+17T>G
|
|
|
|
NM_000170.3(GLDC):c.1580+1G>C
|
|
|
|
NM_000170.3(GLDC):c.1580+2T>G
|
rs1554646710
|
|
|
NM_000170.3(GLDC):c.1580+7G>A
|
|
|
|
NM_000170.3(GLDC):c.1580+7G>C
|
rs1205124797
|
|
|
NM_000170.3(GLDC):c.1580+7G>T
|
|
|
|
NM_000170.3(GLDC):c.1580G>C (p.Ser527Thr)
|
rs1247180998
|
|
|
NM_000170.3(GLDC):c.1581-10G>A
|
|
|
|
NM_000170.3(GLDC):c.1581-17G>C
|
|
|
|
NM_000170.3(GLDC):c.1581-19C>T
|
|
|
|
NM_000170.3(GLDC):c.1581-42_1665+5del
|
rs2129837171
|
|
|
NM_000170.3(GLDC):c.1581-5C>G
|
rs184463452
|
|
|
NM_000170.3(GLDC):c.1581-8G>A
|
|
|
|
NM_000170.3(GLDC):c.1587C>T (p.His529=)
|
|
|
|
NM_000170.3(GLDC):c.1590T>C (p.Ser530=)
|
rs2129837600
|
|
|
NM_000170.3(GLDC):c.1593A>G (p.Glu531=)
|
|
|
|
NM_000170.3(GLDC):c.1596A>C (p.Thr532=)
|
rs2129837578
|
|
|
NM_000170.3(GLDC):c.159G>A (p.Leu53=)
|
|
|
|
NM_000170.3(GLDC):c.15C>A (p.Ala5=)
|
rs1217742509
|
|
|
NM_000170.3(GLDC):c.1600A>G (p.Ile534Val)
|
|
|
|
NM_000170.3(GLDC):c.1602T>C (p.Ile534=)
|
rs201758383
|
|
|
NM_000170.3(GLDC):c.1611C>A (p.Tyr537Ter)
|
|
|
|
NM_000170.3(GLDC):c.1611C>G (p.Tyr537Ter)
|
rs1818317328
|
|
|
NM_000170.3(GLDC):c.1611C>T (p.Tyr537=)
|
|
|
|
NM_000170.3(GLDC):c.1621C>T (p.Leu541=)
|
|
|
|
NM_000170.3(GLDC):c.1623G>T (p.Leu541=)
|
|
|
|
NM_000170.3(GLDC):c.1629del (p.Asn543fs)
|
rs1345599468
|
|
|
NM_000170.3(GLDC):c.1630A>G (p.Lys544Glu)
|
|
|
|
NM_000170.3(GLDC):c.1635C>G (p.Asp545Glu)
|
rs2129837376
|
|
|
NM_000170.3(GLDC):c.1635C>T (p.Asp545=)
|
rs2129837376
|
|
|
NM_000170.3(GLDC):c.1636del (p.Ile546fs)
|
rs1818316799
|
|
|
NM_000170.3(GLDC):c.1638_1655del (p.Ile546_Ser551del)
|
|
|
|
NM_000170.3(GLDC):c.1641C>T (p.Ser547=)
|
|
|
|
NM_000170.3(GLDC):c.1644T>C (p.Leu548=)
|
rs750071045
|
|
|
NM_000170.3(GLDC):c.164G>A (p.Arg55His)
|
rs1195896229
|
|
|
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
|
|
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
|
NM_000170.3(GLDC):c.1658T>G (p.Ile553Ser)
|
rs2129837261
|
|
|
NM_000170.3(GLDC):c.165C>T (p.Arg55=)
|
rs1481397059
|
|
|
NM_000170.3(GLDC):c.1661C>T (p.Pro554Leu)
|
rs1244239144
|
|
|
NM_000170.3(GLDC):c.1662A>G (p.Pro554=)
|
rs547588947
|
|
|
NM_000170.3(GLDC):c.1665+11G>C
|
|
|
|
NM_000170.3(GLDC):c.1665+12T>C
|
|
|
|
NM_000170.3(GLDC):c.1665+14G>A
|
|
|
|
NM_000170.3(GLDC):c.1665+16C>T
|
|
|
|
NM_000170.3(GLDC):c.1665+17T>G
|
|
|
|
NM_000170.3(GLDC):c.1665+1G>A
|
rs267602258
|
|
|
NM_000170.3(GLDC):c.1665+2del
|
|
|
|
NM_000170.3(GLDC):c.1665+7A>G
|
|
|
|
NM_000170.3(GLDC):c.1665+8T>C
|
|
|
|
NM_000170.3(GLDC):c.1666-13G>A
|
|
|
|
NM_000170.3(GLDC):c.1666-15A>G
|
|
|
|
NM_000170.3(GLDC):c.1666-1G>A
|
|
|
|
NM_000170.3(GLDC):c.1666-6T>A
|
|
|
|
NM_000170.3(GLDC):c.1666-8T>C
|
rs2129836483
|
|
|
NM_000170.3(GLDC):c.1668A>G (p.Gly556=)
|
rs760801304
|
|
|
NM_000170.3(GLDC):c.1671C>G (p.Ser557=)
|
rs2129836432
|
|
|
NM_000170.3(GLDC):c.1674C>T (p.Cys558=)
|
rs1469574000
|
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
|
NM_000170.3(GLDC):c.1677C>A (p.Thr559=)
|
|
|
|
NM_000170.3(GLDC):c.1678A>G (p.Met560Val)
|
rs1818312039
|
|
|
NM_000170.3(GLDC):c.1686G>A (p.Leu562=)
|
|
|
|
NM_000170.3(GLDC):c.1689C>G (p.Asn563Lys)
|
rs546431385
|
|
|
NM_000170.3(GLDC):c.168T>C (p.Leu56=)
|
|
|
|
NM_000170.3(GLDC):c.1697C>A (p.Ser566Tyr)
|
|
|
|
NM_000170.3(GLDC):c.1698T>G (p.Ser566=)
|
rs2129836314
|
|
|
NM_000170.3(GLDC):c.16A>C (p.Arg6=)
|
|
|
|
NM_000170.3(GLDC):c.1704C>T (p.Leu568=)
|
rs919319637
|
|
|
NM_000170.3(GLDC):c.1705G>C (p.Ala569Pro)
|
rs151268759
|
|
|
NM_000170.3(GLDC):c.1706C>T (p.Ala569Val)
|
rs1263586630
|
|
|
NM_000170.3(GLDC):c.1707+11C>T
|
rs2129836174
|
|
|
NM_000170.3(GLDC):c.1707+12A>T
|
|
|
|
NM_000170.3(GLDC):c.1707+13C>T
|
|
|
|
NM_000170.3(GLDC):c.1707+17T>C
|
|
|
|
NM_000170.3(GLDC):c.1707+18G>A
|
|
|
|
NM_000170.3(GLDC):c.1708-18T>C
|
|
|
|
NM_000170.3(GLDC):c.1708-9T>G
|
rs2129832194
|
|
|
NM_000170.3(GLDC):c.1708C>G (p.Pro570Ala)
|
rs1289915951
|
|
|
NM_000170.3(GLDC):c.1709del (p.Pro570fs)
|
|
|
|
NM_000170.3(GLDC):c.1711A>G (p.Ile571Val)
|
|
|
|
NM_000170.3(GLDC):c.1714A>G (p.Thr572Ala)
|
|
|
|
NM_000170.3(GLDC):c.1718G>A (p.Trp573Ter)
|
rs959935793
|
|
|
NM_000170.3(GLDC):c.1722A>C (p.Lys574Asn)
|
rs1554646530
|
|
|
NM_000170.3(GLDC):c.1722A>G (p.Lys574=)
|
|
|
|
NM_000170.3(GLDC):c.1729G>A (p.Ala577Thr)
|
rs1818290393
|
|
|
NM_000170.3(GLDC):c.172C>T (p.Pro58Ser)
|
rs780963698
|
|
|
NM_000170.3(GLDC):c.1731A>C (p.Ala577=)
|
|
|
|
NM_000170.3(GLDC):c.1735A>G (p.Ile579Val)
|
rs2129832016
|
|
|
NM_000170.3(GLDC):c.1738C>G (p.His580Asp)
|
rs1164241828
|
|
|
NM_000170.3(GLDC):c.1740C>G (p.His580Gln)
|
rs1587946346
|
|
|
NM_000170.3(GLDC):c.1740C>T (p.His580=)
|
rs1587946346
|
|
|
NM_000170.3(GLDC):c.1743C>A (p.Pro581=)
|
|
|
|
NM_000170.3(GLDC):c.1743C>T (p.Pro581=)
|
|
|
|
NM_000170.3(GLDC):c.1749G>A (p.Val583=)
|
|
|
|
NM_000170.3(GLDC):c.174C>T (p.Pro58=)
|
|
|
|
NM_000170.3(GLDC):c.1756G>T (p.Asp586Tyr)
|
rs1042809307
|
|
|
NM_000170.3(GLDC):c.1765C>T (p.Gln589Ter)
|
rs1818289368
|
|
|
NM_000170.3(GLDC):c.176G>A (p.Arg59Lys)
|
rs386833530
|
|
|
NM_000170.3(GLDC):c.1773T>C (p.Tyr591=)
|
rs2129831810
|
|
|
NM_000170.3(GLDC):c.1776G>A (p.Gln592=)
|
|
|
|
NM_000170.3(GLDC):c.1779G>C (p.Gln593His)
|
|
|
|
NM_000170.3(GLDC):c.1789G>T (p.Glu597Ter)
|
rs2129831711
|
|
|
NM_000170.3(GLDC):c.1797G>A (p.Glu599=)
|
rs1587946274
|
|
|
NM_000170.3(GLDC):c.1801G>C (p.Asp601His)
|
|
|
|
NM_000170.3(GLDC):c.1806G>A (p.Leu602=)
|
rs2129831668
|
|
|
NM_000170.3(GLDC):c.180C>T (p.His60=)
|
|
|
|
NM_000170.3(GLDC):c.1816A>G (p.Thr606Ala)
|
rs2129831606
|
|
|
NM_000170.3(GLDC):c.181GAC[1] (p.Asp62del)
|
rs1554652789
|
|
|
NM_000170.3(GLDC):c.1820G>C (p.Gly607Ala)
|
rs1818288295
|
|
|
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
|
|
|
|
NM_000170.3(GLDC):c.1829A>G (p.Gln610Arg)
|
|
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
|
NM_000170.3(GLDC):c.1833C>T (p.Val611=)
|
|
|
|
NM_000170.3(GLDC):c.183C>G (p.Asp61Glu)
|
rs375497905
|
|
|
NM_000170.3(GLDC):c.183C>T (p.Asp61=)
|
rs375497905
|
|
|
NM_000170.3(GLDC):c.1842G>T (p.Gln614His)
|
|
|
|
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)
|
rs2129831448
|
|
|
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)
|
rs2129831443
|
|
|
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp)
|
rs2129831435
|
|
|
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
|
|
|
|
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)
|
rs1818287644
|
|
|
NM_000170.3(GLDC):c.184G>T (p.Asp62Tyr)
|
rs2130032047
|
|
|
NM_000170.3(GLDC):c.1850+12del
|
|
|
|
NM_000170.3(GLDC):c.1850+14T>C
|
|
|
|
NM_000170.3(GLDC):c.1850+17T>C
|
|
|
|
NM_000170.3(GLDC):c.1850+18C>G
|
|
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
|
NM_000170.3(GLDC):c.1850+1del
|
rs1399754800
|
|
|
NM_000170.3(GLDC):c.1850+6G>A
|
|
|
|
NM_000170.3(GLDC):c.1850+8C>A
|
rs1326427792
|
|
|
NM_000170.3(GLDC):c.1850+8C>T
|
rs1326427792
|
|
|
NM_000170.3(GLDC):c.1850+9A>G
|
rs2129831335
|
|
|
NM_000170.3(GLDC):c.1850G>C (p.Ser617Thr)
|
|
|
|
NM_000170.3(GLDC):c.1851-14_1851-12del
|
|
|
|
NM_000170.3(GLDC):c.1851-1G>A
|
|
|
|
NM_000170.3(GLDC):c.1852G>T (p.Gly618Ter)
|
rs758575745
|
|
|
NM_000170.3(GLDC):c.1862del (p.Gly621fs)
|
rs1449126451
|
|
|
NM_000170.3(GLDC):c.1863A>T (p.Gly621=)
|
|
|
|
NM_000170.3(GLDC):c.1868A>T (p.Tyr623Phe)
|
rs2129758401
|
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
|
NM_000170.3(GLDC):c.1869T>C (p.Tyr623=)
|
rs2129758380
|
|
|
NM_000170.3(GLDC):c.186C>T (p.Asp62=)
|
rs1462209032
|
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
|
NM_000170.3(GLDC):c.1881C>G (p.Ala627=)
|
rs2129758314
|
|
|
NM_000170.3(GLDC):c.1885A>G (p.Ile629Val)
|
rs761680597
|
|
|
NM_000170.3(GLDC):c.1889G>C (p.Arg630Pro)
|
rs763517274
|
|
|
NM_000170.3(GLDC):c.1893C>G (p.Ala631=)
|
|
|
|
NM_000170.3(GLDC):c.1893C>T (p.Ala631=)
|
rs565751857
|
|
|
NM_000170.3(GLDC):c.1896C>G (p.Tyr632Ter)
|
rs1272244088
|
|
|
NM_000170.3(GLDC):c.1898T>G (p.Leu633Ter)
|
rs2129758221
|
|
|
NM_000170.3(GLDC):c.189C>T (p.Phe63=)
|
|
|
|
NM_000170.3(GLDC):c.1903C>T (p.Gln635Ter)
|
rs2129758198
|
|
|
NM_000170.3(GLDC):c.1908A>G (p.Lys636=)
|
rs552960907
|
|
|
NM_000170.3(GLDC):c.190G>A (p.Ala64Thr)
|
rs141601131
|
|
|
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser)
|
rs141601131
|
|
|
NM_000170.3(GLDC):c.1910G>A (p.Gly637Glu)
|
rs759852256
|
|
|
NM_000170.3(GLDC):c.1914G>C (p.Glu638Asp)
|
rs1200000126
|
|
|
NM_000170.3(GLDC):c.1917G>T (p.Gly639=)
|
|
|
|
NM_000170.3(GLDC):c.1923A>G (p.Arg641=)
|
|
|
|
NM_000170.3(GLDC):c.1926+12A>G
|
|
|
|
NM_000170.3(GLDC):c.1926+14G>T
|
|
|
|
NM_000170.3(GLDC):c.1926+17G>A
|
|
|
|
NM_000170.3(GLDC):c.1926+19G>C
|
|
|
|
NM_000170.3(GLDC):c.1926+3G>T
|
rs1563839674
|
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
|
NM_000170.3(GLDC):c.1926+8T>C
|
rs1268260237
|
|
|
NM_000170.3(GLDC):c.1927-10T>C
|
|
|
|
NM_000170.3(GLDC):c.1927-11C>G
|
|
|
|
NM_000170.3(GLDC):c.1927-12T>G
|
|
|
|
NM_000170.3(GLDC):c.1927-13T>G
|
|
|
|
NM_000170.3(GLDC):c.1927-14T>C
|
|
|
|
NM_000170.3(GLDC):c.1927-15C>G
|
|
|
|
NM_000170.3(GLDC):c.1927-16C>G
|
rs1817685878
|
|
|
NM_000170.3(GLDC):c.1927-19C>T
|
|
|
|
NM_000170.3(GLDC):c.1927-1G>A
|
rs2129735367
|
|
|
NM_000170.3(GLDC):c.1927-21_1927-17del
|
|
|
|
NM_000170.3(GLDC):c.1927-4G>A
|
rs576723612
|
|
|
NM_000170.3(GLDC):c.1927-6C>T
|
|
|
|
NM_000170.3(GLDC):c.1927-7T>C
|
rs1174878870
|
|
|
NM_000170.3(GLDC):c.1927-8T>C
|
|
|
|
NM_000170.3(GLDC):c.1929T>G (p.Val643=)
|
|
|
|
NM_000170.3(GLDC):c.1931G>A (p.Cys644Tyr)
|
rs386833535
|
|
|
NM_000170.3(GLDC):c.1935C>A (p.Leu645=)
|
|
|
|
NM_000170.3(GLDC):c.1935C>G (p.Leu645=)
|
rs1192928029
|
|
|
NM_000170.3(GLDC):c.1935C>T (p.Leu645=)
|
rs1192928029
|
|
|
NM_000170.3(GLDC):c.1944del (p.Lys648fs)
|
|
|
|
NM_000170.3(GLDC):c.1947A>G (p.Ser649=)
|
|
|
|
NM_000170.3(GLDC):c.194G>A (p.Arg65Gln)
|
|
|
|
NM_000170.3(GLDC):c.194G>C (p.Arg65Pro)
|
|
|
|
NM_000170.3(GLDC):c.1950A>G (p.Ala650=)
|
rs1458021364
|
|
|
NM_000170.3(GLDC):c.1951C>G (p.His651Asp)
|
rs2129735272
|
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
|
NM_000170.3(GLDC):c.1956G>A (p.Gly652=)
|
|
|
|
NM_000170.3(GLDC):c.1959C>T (p.Thr653=)
|
rs2129735219
|
|
|
NM_000170.3(GLDC):c.195G>C (p.Arg65=)
|
rs2130031993
|
|
|
NM_000170.3(GLDC):c.1970G>A (p.Ser657Asn)
|
rs1301895668
|
|
|
NM_000170.3(GLDC):c.1971T>C (p.Ser657=)
|
|
|
|
NM_000170.3(GLDC):c.1974C>T (p.Ala658=)
|
rs534062853
|
|
|
NM_000170.3(GLDC):c.1975C>T (p.His659Tyr)
|
|
|
|
NM_000170.3(GLDC):c.1978A>G (p.Met660Val)
|
|
|
|
NM_000170.3(GLDC):c.197G>C (p.Arg66Thr)
|
|
|
|
NM_000170.3(GLDC):c.197_198delinsAA (p.Arg66Lys)
|
rs1554652780
|
|
|
NM_000170.3(GLDC):c.1983A>T (p.Ala661=)
|
|
|
|
NM_000170.3(GLDC):c.1998G>A (p.Gln666=)
|
|
|
|
NM_000170.3(GLDC):c.2000C>T (p.Pro667Leu)
|
|
|
|
NM_000170.3(GLDC):c.2001T>C (p.Pro667=)
|
|
|
|
NM_000170.3(GLDC):c.2008G>C (p.Val670Leu)
|
rs767864486
|
|
|
NM_000170.3(GLDC):c.2010G>A (p.Val670=)
|
rs368248411
|
|
|
NM_000170.3(GLDC):c.2010G>C (p.Val670=)
|
rs368248411
|
|
|
NM_000170.3(GLDC):c.2011G>C (p.Asp671His)
|
rs2129734998
|
|
|
NM_000170.3(GLDC):c.2013T>G (p.Asp671Glu)
|
|
|
|
NM_000170.3(GLDC):c.2017T>C (p.Tyr673His)
|
|
|
|
NM_000170.3(GLDC):c.2019T>A (p.Tyr673Ter)
|
rs774506115
|
|
|
NM_000170.3(GLDC):c.2020G>T (p.Gly674Trp)
|
rs2129734932
|
|
|
NM_000170.3(GLDC):c.2025T>C (p.Asn675=)
|
|
|
|
NM_000170.3(GLDC):c.2029G>A (p.Asp677Asn)
|
|
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
|
NM_000170.3(GLDC):c.2034A>G (p.Ala678=)
|
|
|
|
NM_000170.3(GLDC):c.2041C>A (p.Leu681Ile)
|
rs753457618
|
|
|
NM_000170.3(GLDC):c.2043C>G (p.Leu681=)
|
|
|
|
NM_000170.3(GLDC):c.2043C>T (p.Leu681=)
|
rs72695507
|
|
|
NM_000170.3(GLDC):c.2045A>G (p.Lys682Arg)
|
rs1305077560
|
|
|
NM_000170.3(GLDC):c.2047G>A (p.Ala683Thr)
|
rs2129734759
|
|
|
NM_000170.3(GLDC):c.2049C>G (p.Ala683=)
|
|
|
|
NM_000170.3(GLDC):c.204C>A (p.Ile68=)
|
|
|
|
NM_000170.3(GLDC):c.204C>T (p.Ile68=)
|
rs2130031955
|
|
|
NM_000170.3(GLDC):c.2052+10T>C
|
|
|
|
NM_000170.3(GLDC):c.2052+11_2052+13del
|
|
|
|
NM_000170.3(GLDC):c.2052+12C>G
|
|
|
|
NM_000170.3(GLDC):c.2052+13T>A
|
|
|
|
NM_000170.3(GLDC):c.2052+13T>C
|
|
|
|
NM_000170.3(GLDC):c.2052+16T>G
|
rs1817682144
|
|
|
NM_000170.3(GLDC):c.2052+1G>A
|
rs765906340
|
|
|
NM_000170.3(GLDC):c.2052+20C>T
|
|
|
|
NM_000170.3(GLDC):c.2052+4C>T
|
|
|
|
NM_000170.3(GLDC):c.2052+6T>C
|
rs1421593264
|
|
|
NM_000170.3(GLDC):c.2052+8T>A
|
rs2129734705
|
|
|
NM_000170.3(GLDC):c.2053-11T>C
|
|
|
|
NM_000170.3(GLDC):c.2053-15C>T
|
|
|
|
NM_000170.3(GLDC):c.2053-16C>A
|
|
|
|
NM_000170.3(GLDC):c.2053-17C>A
|
|
|
|
NM_000170.3(GLDC):c.2053-17C>T
|
|
|
|
NM_000170.3(GLDC):c.2053-18A>G
|
|
|
|
NM_000170.3(GLDC):c.2053-2A>C
|
rs1323060528
|
|
|
NM_000170.3(GLDC):c.2053-2A>G
|
|
|
|
NM_000170.3(GLDC):c.2053-9C>A
|
rs2129726722
|
|
|
NM_000170.3(GLDC):c.2053-9C>G
|
|
|
|
NM_000170.3(GLDC):c.2061G>A (p.Lys687=)
|
rs1817630045
|
|
|
NM_000170.3(GLDC):c.2063A>C (p.His688Pro)
|
rs759659824
|
|
|
NM_000170.3(GLDC):c.2063A>G (p.His688Arg)
|
rs759659824
|
|
|
NM_000170.3(GLDC):c.2074C>G (p.Leu692Val)
|
|
|
|
NM_000170.3(GLDC):c.2074C>T (p.Leu692=)
|
|
|
|
NM_000170.3(GLDC):c.2085C>A (p.Ile695=)
|
rs145547090
|
|
|
NM_000170.3(GLDC):c.2085C>G (p.Ile695Met)
|
|
|
|
NM_000170.3(GLDC):c.2085C>T (p.Ile695=)
|
rs145547090
|
|
|
NM_000170.3(GLDC):c.2086A>G (p.Met696Val)
|
|
|
|
NM_000170.3(GLDC):c.2086A>T (p.Met696Leu)
|
rs371447782
|
|
|
NM_000170.3(GLDC):c.2088G>A (p.Met696Ile)
|
|
|
|
NM_000170.3(GLDC):c.2090T>C (p.Ile697Thr)
|
|
|
|
NM_000170.3(GLDC):c.2091T>G (p.Ile697Met)
|
rs2129726512
|
|
|
NM_000170.3(GLDC):c.2094A>C (p.Thr698=)
|
rs779427031
|
|
|
NM_000170.3(GLDC):c.2094A>G (p.Thr698=)
|
|
|
|
NM_000170.3(GLDC):c.209C>A (p.Pro70His)
|
rs776730073
|
|
|
NM_000170.3(GLDC):c.209C>G (p.Pro70Arg)
|
rs776730073
|
|
|
NM_000170.3(GLDC):c.209del (p.Pro70fs)
|
|
|
|
NM_000170.3(GLDC):c.20C>T (p.Ala7Val)
|
rs1420734296
|
|
|
NM_000170.3(GLDC):c.2109T>C (p.Asn703=)
|
|
|
|
NM_000170.3(GLDC):c.210T>C (p.Pro70=)
|
rs1170354400
|
|
|
NM_000170.3(GLDC):c.2112G>A (p.Gly704=)
|
rs1817628881
|
|
|
NM_000170.3(GLDC):c.2113del (p.Val705fs)
|
rs2129726392
|
|
|
NM_000170.3(GLDC):c.2115G>C (p.Val705=)
|
rs765205689
|
|
|
NM_000170.3(GLDC):c.2121A>G (p.Glu707=)
|
|
|
|
NM_000170.3(GLDC):c.2125A>G (p.Asn709Asp)
|
|
|
|
NM_000170.3(GLDC):c.2127C>T (p.Asn709=)
|
rs753895623
|
|
|
NM_000170.3(GLDC):c.2134_2135insT (p.Asp712fs)
|
|
|
|
NM_000170.3(GLDC):c.2136C>G (p.Asp712Glu)
|
rs762761551
|
|
|
NM_000170.3(GLDC):c.2136C>T (p.Asp712=)
|
rs762761551
|
|
|
NM_000170.3(GLDC):c.2142T>C (p.Cys714=)
|
|
|
|
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
|
|
|
|
NM_000170.3(GLDC):c.2148C>T (p.Leu716=)
|
rs367750112
|
|
|
NM_000170.3(GLDC):c.214G>C (p.Asp72His)
|
|
|
|
NM_000170.3(GLDC):c.214G>T (p.Asp72Tyr)
|
rs1819720191
|
|
|
NM_000170.3(GLDC):c.2159A>G (p.His720Arg)
|
|
|
|
NM_000170.3(GLDC):c.2160T>C (p.His720=)
|
rs758841885
|
|
|
NM_000170.3(GLDC):c.2161G>A (p.Gly721Arg)
|
rs1587924821
|
|
|
NM_000170.3(GLDC):c.2162G>C (p.Gly721Ala)
|
rs2129726062
|
|
|
NM_000170.3(GLDC):c.2163A>G (p.Gly721=)
|
rs748569405
|
|
|
NM_000170.3(GLDC):c.2167C>G (p.Gln723Glu)
|
|
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
|
NM_000170.3(GLDC):c.2172C>G (p.Val724=)
|
rs753855821
|
|
|
NM_000170.3(GLDC):c.2175C>G (p.Tyr725Ter)
|
rs147951756
|
|
|
NM_000170.3(GLDC):c.2176del (p.Tyr725_Leu726insTer)
|
rs2129725961
|
|
|
NM_000170.3(GLDC):c.2179G>C (p.Asp727His)
|
rs2129725947
|
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
|
NM_000170.3(GLDC):c.2183G>A (p.Gly728Glu)
|
|
|
|
NM_000170.3(GLDC):c.2187A>G (p.Ala729=)
|
|
|
|
NM_000170.3(GLDC):c.2190T>A (p.Asn730Lys)
|
|
|
|
NM_000170.3(GLDC):c.2191A>G (p.Met731Val)
|
rs545419197
|
|
|
NM_000170.3(GLDC):c.2196T>C (p.Asn732=)
|
rs386833544
|
|
|
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)
|
rs2129725849
|
|
|
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
|
|
|
|
NM_000170.3(GLDC):c.2201A>G (p.Gln734Arg)
|
rs1817625875
|
|
|
NM_000170.3(GLDC):c.2202+13G>C
|
rs1288374750
|
|
|
NM_000170.3(GLDC):c.2202+16G>C
|
|
|
|
NM_000170.3(GLDC):c.2202+17C>G
|
rs1014629026
|
|
|
NM_000170.3(GLDC):c.2202+17C>T
|
|
|
|
NM_000170.3(GLDC):c.2202+19C>A
|
|
|
|
NM_000170.3(GLDC):c.2202+7A>G
|
|
|
|
NM_000170.3(GLDC):c.2203-11C>A
|
|
|
|
NM_000170.3(GLDC):c.2203-11C>G
|
|
|
|
NM_000170.3(GLDC):c.2203-14T>C
|
|
|
|
NM_000170.3(GLDC):c.2203-16C>G
|
|
|
|
NM_000170.3(GLDC):c.2203-17C>T
|
|
|
|
NM_000170.3(GLDC):c.2203-18C>A
|
|
|
|
NM_000170.3(GLDC):c.2203-18C>G
|
|
|
|
NM_000170.3(GLDC):c.2203-18C>T
|
|
|
|
NM_000170.3(GLDC):c.2203-1G>A
|
|
|
|
NM_000170.3(GLDC):c.2203-20G>A
|
rs1290189679
|
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
|
NM_000170.3(GLDC):c.2203-2A>T
|
|
|
|
NM_000170.3(GLDC):c.2203-4G>A
|
rs2129720252
|
|
|
NM_000170.3(GLDC):c.2203-6T>C
|
|
|
|
NM_000170.3(GLDC):c.2203-8_2203-6dup
|
|
|
|
NM_000170.3(GLDC):c.2205G>A (p.Val735=)
|
|
|
|
NM_000170.3(GLDC):c.2211C>T (p.Ile737=)
|
rs1587923448
|
|
|
NM_000170.3(GLDC):c.2217C>T (p.Arg739=)
|
rs757437950
|
|
|
NM_000170.3(GLDC):c.2218C>G (p.Pro740Ala)
|
|
|
|
NM_000170.3(GLDC):c.2219C>G (p.Pro740Arg)
|
|
|
|
NM_000170.3(GLDC):c.2225_2232del (p.Asp742fs)
|
rs1817584930
|
|
|
NM_000170.3(GLDC):c.2232G>A (p.Gly744=)
|
|
|
|
NM_000170.3(GLDC):c.2232G>T (p.Gly744=)
|
|
|
|
NM_000170.3(GLDC):c.2234C>G (p.Ser745Cys)
|
rs1398537221
|
|
|
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
|
|
|
|
NM_000170.3(GLDC):c.2236G>C (p.Asp746His)
|
|
|
|
NM_000170.3(GLDC):c.2238T>A (p.Asp746Glu)
|
rs749882600
|
|
|
NM_000170.3(GLDC):c.2238T>C (p.Asp746=)
|
|
|
|
NM_000170.3(GLDC):c.2241C>G (p.Val747=)
|
rs375733985
|
|
|
NM_000170.3(GLDC):c.2247C>T (p.His749=)
|
|
|
|
NM_000170.3(GLDC):c.224A>G (p.Gln75Arg)
|
rs1819719916
|
|
|
NM_000170.3(GLDC):c.2256T>C (p.Leu752=)
|
rs1587923380
|
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
|
NM_000170.3(GLDC):c.2259C>T (p.His753=)
|
|
|
|
NM_000170.3(GLDC):c.225G>A (p.Gln75=)
|
|
|
|
NM_000170.3(GLDC):c.226A>C (p.Arg76=)
|
rs2130031859
|
|
|
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
|
|
|
|
NM_000170.3(GLDC):c.2277C>A (p.Pro759=)
|
|
|
|
NM_000170.3(GLDC):c.2277C>T (p.Pro759=)
|
rs970388208
|
|
|
NM_000170.3(GLDC):c.2278dup (p.His760fs)
|
rs1563834980
|
|
|
NM_000170.3(GLDC):c.2279A>T (p.His760Leu)
|
rs1817583687
|
|
|
NM_000170.3(GLDC):c.2283A>G (p.Gly761=)
|
rs1554643744
|
|
|
NM_000170.3(GLDC):c.2286A>G (p.Gly762=)
|
rs2129719766
|
|
|
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
|
|
|
|
NM_000170.3(GLDC):c.2288G>A (p.Gly763Asp)
|
rs1374110692
|
|
|
NM_000170.3(GLDC):c.2292T>C (p.Gly764=)
|
rs2129719724
|
|
|
NM_000170.3(GLDC):c.2295T>C (p.Pro765=)
|
rs1817583288
|
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
|
NM_000170.3(GLDC):c.2298C>T (p.Gly766=)
|
rs1031003330
|
|
|
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)
|
rs2129719653
|
|
|
NM_000170.3(GLDC):c.2304G>C (p.Gly768=)
|
|
|
|
NM_000170.3(GLDC):c.2304G>T (p.Gly768=)
|
rs533775952
|
|
|
NM_000170.3(GLDC):c.2305C>G (p.Pro769Ala)
|
|
|
|
NM_000170.3(GLDC):c.2307C>A (p.Pro769=)
|
rs565834029
|
|
|
NM_000170.3(GLDC):c.2310C>A (p.Ile770=)
|
rs765661419
|
|
|
NM_000170.3(GLDC):c.2310C>T (p.Ile770=)
|
rs765661419
|
|
|
NM_000170.3(GLDC):c.2310del (p.Ile770fs)
|
rs2129719586
|
|
|
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)
|
rs760077981
|
|
|
NM_000170.3(GLDC):c.2315+10G>A
|
|
|
|
NM_000170.3(GLDC):c.2315+13C>A
|
|
|
|
NM_000170.3(GLDC):c.2315+16C>T
|
|
|
|
NM_000170.3(GLDC):c.2315+19G>C
|
|
|
|
NM_000170.3(GLDC):c.2315+20T>C
|
rs1212346753
|
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
|
NM_000170.3(GLDC):c.2315+6T>C
|
rs1817582202
|
|
|
NM_000170.3(GLDC):c.2316-13_2316-12dup
|
rs3215923
|
|
|
NM_000170.3(GLDC):c.2316-18C>T
|
rs1330113346
|
|
|
NM_000170.3(GLDC):c.2316-5dup
|
|
|
|
NM_000170.3(GLDC):c.2316-6del
|
rs3215923
|
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
|
NM_000170.3(GLDC):c.231G>C (p.Glu77Asp)
|
|
|
|
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)
|
rs1554643619
|
|
|
NM_000170.3(GLDC):c.2329G>A (p.Ala777Thr)
|
|
|
|
NM_000170.3(GLDC):c.2329G>T (p.Ala777Ser)
|
|
|
|
NM_000170.3(GLDC):c.2331C>T (p.Ala777=)
|
|
|
|
NM_000170.3(GLDC):c.2333C>G (p.Pro778Arg)
|
rs754670348
|
|
|
NM_000170.3(GLDC):c.2333C>T (p.Pro778Leu)
|
rs754670348
|
|
|
NM_000170.3(GLDC):c.2334G>C (p.Pro778=)
|
rs191795314
|
|
|
NM_000170.3(GLDC):c.2335T>C (p.Phe779Leu)
|
rs1817557171
|
|
|
NM_000170.3(GLDC):c.233T>C (p.Met78Thr)
|
rs2130031822
|
|
|
NM_000170.3(GLDC):c.2345A>G (p.Asn782Ser)
|
|
|
|
NM_000170.3(GLDC):c.234G>C (p.Met78Ile)
|
rs1282813808
|
|
|
NM_000170.3(GLDC):c.2352C>G (p.Pro784=)
|
rs367781728
|
|
|
NM_000170.3(GLDC):c.2353G>A (p.Val785Ile)
|
rs372101832
|
|
|
NM_000170.3(GLDC):c.2355C>T (p.Val785=)
|
rs2129715094
|
|
|
NM_000170.3(GLDC):c.2356A>G (p.Ile786Val)
|
|
|
|
NM_000170.3(GLDC):c.2361A>C (p.Ser787=)
|
rs2129715080
|
|
|
NM_000170.3(GLDC):c.2361A>G (p.Ser787=)
|
|
|
|
NM_000170.3(GLDC):c.2364A>G (p.Leu788=)
|
rs992373079
|
|
|
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)
|
rs2130031802
|
|
|
NM_000170.3(GLDC):c.2373T>C (p.Asn791=)
|
rs923929584
|
|
|
NM_000170.3(GLDC):c.2376G>A (p.Glu792=)
|
rs2129715013
|
|
|
NM_000170.3(GLDC):c.2377G>A (p.Asp793Asn)
|
rs776288649
|
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
|
NM_000170.3(GLDC):c.2381C>G (p.Ala794Gly)
|
rs1817556275
|
|
|
NM_000170.3(GLDC):c.2383T>A (p.Cys795Ser)
|
rs567167527
|
|
|
NM_000170.3(GLDC):c.2384G>C (p.Cys795Ser)
|
|
|
|
NM_000170.3(GLDC):c.238C>T (p.Gln80Ter)
|
|
|
|
NM_000170.3(GLDC):c.2390T>G (p.Val797Gly)
|
|
|
|
NM_000170.3(GLDC):c.2396C>G (p.Thr799Ser)
|
|
|
|
NM_000170.3(GLDC):c.2396C>T (p.Thr799Ile)
|
rs772015252
|
|
|
NM_000170.3(GLDC):c.2397C>A (p.Thr799=)
|
rs778396953
|
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
|
NM_000170.3(GLDC):c.2407_2408delinsTT (p.Ala803Phe)
|
|
|
|
NM_000170.3(GLDC):c.2409C>A (p.Ala803=)
|
rs1554643608
|
|
|
NM_000170.3(GLDC):c.2409C>T (p.Ala803=)
|
rs1554643608
|
|
|
NM_000170.3(GLDC):c.2410C>T (p.Pro804Ser)
|
rs2129714808
|
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
|
NM_000170.3(GLDC):c.2424T>C (p.Ser808=)
|
|
|
|
NM_000170.3(GLDC):c.2427C>T (p.Ser809=)
|
rs2129714696
|
|
|
NM_000170.3(GLDC):c.2430C>T (p.Ile810=)
|
rs2129714681
|
|
|
NM_000170.3(GLDC):c.2431T>C (p.Leu811=)
|
|
|
|
NM_000170.3(GLDC):c.2431T>G (p.Leu811Val)
|
rs2129714675
|
|
|
NM_000170.3(GLDC):c.2436C>G (p.Pro812=)
|
rs2129714654
|
|
|
NM_000170.3(GLDC):c.2436C>T (p.Pro812=)
|
|
|
|
NM_000170.3(GLDC):c.243C>T (p.Thr81=)
|
|
|
|
NM_000170.3(GLDC):c.2445G>A (p.Trp815Ter)
|
rs2129714616
|
|
|
NM_000170.3(GLDC):c.2447C>T (p.Ala816Val)
|
rs2129714588
|
|
|
NM_000170.3(GLDC):c.2451T>C (p.Tyr817=)
|
rs766061438
|
|
|
NM_000170.3(GLDC):c.2454C>T (p.Ile818=)
|
rs1817554747
|
|
|
NM_000170.3(GLDC):c.2455A>G (p.Lys819Glu)
|
rs1587922096
|
|
|
NM_000170.3(GLDC):c.2457+11G>C
|
rs2129714505
|
|
|
NM_000170.3(GLDC):c.2457+12G>A
|
|
|
|
NM_000170.3(GLDC):c.2457+14G>A
|
|
|
|
NM_000170.3(GLDC):c.2457+14G>C
|
|
|
|
NM_000170.3(GLDC):c.2457+14G>T
|
|
|
|
NM_000170.3(GLDC):c.2457+15T>G
|
|
|
|
NM_000170.3(GLDC):c.2457+16A>G
|
|
|
|
NM_000170.3(GLDC):c.2457+20G>T
|
|
|
|
NM_000170.3(GLDC):c.2457+8C>G
|
rs147308839
|
|
|
NM_000170.3(GLDC):c.2458-11C>G
|
|
|
|
NM_000170.3(GLDC):c.2458-12C>G
|
|
|
|
NM_000170.3(GLDC):c.2458-15T>G
|
|
|
|
NM_000170.3(GLDC):c.2458-18T>G
|
|
|
|
NM_000170.3(GLDC):c.2458-20T>C
|
|
|
|
NM_000170.3(GLDC):c.2458-26_2458-10dup
|
rs2129705813
|
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
|
NM_000170.3(GLDC):c.2458-4G>A
|
rs2129705803
|
|
|
NM_000170.3(GLDC):c.2458-4G>T
|
rs2129705803
|
|
|
NM_000170.3(GLDC):c.2458-7G>A
|
rs2129705811
|
|
|
NM_000170.3(GLDC):c.2458-7G>C
|
|
|
|
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser)
|
rs386833559
|
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
|
NM_000170.3(GLDC):c.2461A>T (p.Met821Leu)
|
|
|
|
NM_000170.3(GLDC):c.2466A>G (p.Gly822=)
|
|
|
|
NM_000170.3(GLDC):c.2468G>A (p.Gly823Asp)
|
|
|
|
NM_000170.3(GLDC):c.2470A>T (p.Lys824Ter)
|
rs1447727878
|
|
|
NM_000170.3(GLDC):c.2475T>A (p.Gly825=)
|
|
|
|
NM_000170.3(GLDC):c.247G>C (p.Gly83Arg)
|
rs946962875
|
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
|
NM_000170.3(GLDC):c.2485G>A (p.Ala829Thr)
|
|
|
|
NM_000170.3(GLDC):c.2490G>A (p.Thr830=)
|
rs145407593
|
|
|
NM_000170.3(GLDC):c.2490G>C (p.Thr830=)
|
|
|
|
NM_000170.3(GLDC):c.2490G>T (p.Thr830=)
|
rs145407593
|
|
|
NM_000170.3(GLDC):c.2496T>G (p.Thr832=)
|
|
|
|
NM_000170.3(GLDC):c.2499G>T (p.Ala833=)
|
|
|
|
NM_000170.3(GLDC):c.249G>C (p.Gly83=)
|
rs12341698
|
|
|
NM_000170.3(GLDC):c.24G>A (p.Trp8Ter)
|
rs1163356968
|
|
|
NM_000170.3(GLDC):c.2501T>C (p.Ile834Thr)
|
|
|
|
NM_000170.3(GLDC):c.2502A>G (p.Ile834Met)
|
|
|
|
NM_000170.3(GLDC):c.2503T>C (p.Leu835=)
|
|
|
|
NM_000170.3(GLDC):c.2508T>C (p.Asn836=)
|
rs2129705484
|
|
|
NM_000170.3(GLDC):c.2509G>T (p.Ala837Ser)
|
|
|
|
NM_000170.3(GLDC):c.2511C>G (p.Ala837=)
|
rs2129705466
|
|
|
NM_000170.3(GLDC):c.2512A>C (p.Asn838His)
|
rs1817498068
|
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
|
NM_000170.3(GLDC):c.2517C>T (p.Tyr839=)
|
rs1817497939
|
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
|
NM_000170.3(GLDC):c.251del (p.Leu84fs)
|
rs2130031690
|
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
|
NM_000170.3(GLDC):c.2523C>A (p.Ala841=)
|
rs762805307
|
|
|
NM_000170.3(GLDC):c.2523C>G (p.Ala841=)
|
rs762805307
|
|
|
NM_000170.3(GLDC):c.2526G>A (p.Lys842=)
|
rs548033815
|
|
|
NM_000170.3(GLDC):c.2526G>C (p.Lys842Asn)
|
rs548033815
|
|
|
NM_000170.3(GLDC):c.2527C>A (p.Arg843=)
|
rs1554643360
|
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
|
NM_000170.3(GLDC):c.2528G>A (p.Arg843Gln)
|
rs1422108790
|
|
|
NM_000170.3(GLDC):c.252G>A (p.Leu84=)
|
rs1314463455
|
|
|
NM_000170.3(GLDC):c.2531T>G (p.Leu844Ter)
|
rs770743220
|
|
|
NM_000170.3(GLDC):c.2535A>G (p.Glu845=)
|
rs2129705267
|
|
|
NM_000170.3(GLDC):c.2537C>A (p.Thr846Lys)
|
|
|
|
NM_000170.3(GLDC):c.2537C>T (p.Thr846Ile)
|
rs747336541
|
|
|
NM_000170.3(GLDC):c.2541C>T (p.His847=)
|
|
|
|
NM_000170.3(GLDC):c.2544C>T (p.Tyr848=)
|
|
|
|
NM_000170.3(GLDC):c.255+11C>T
|
|
|
|
NM_000170.3(GLDC):c.255+12C>A
|
|
|
|
NM_000170.3(GLDC):c.255+12C>T
|
|
|
|
NM_000170.3(GLDC):c.255+15C>A
|
|
|
|
NM_000170.3(GLDC):c.255+16C>G
|
|
|
|
NM_000170.3(GLDC):c.255+16C>T
|
rs1819718277
|
|
|
NM_000170.3(GLDC):c.255+17G>C
|
|
|
|
NM_000170.3(GLDC):c.255+18G>A
|
|
|
|
NM_000170.3(GLDC):c.255+19C>T
|
|
|
|
NM_000170.3(GLDC):c.255+3A>T
|
rs1417674040
|
|
|
NM_000170.3(GLDC):c.255+7A>G
|
|
|
|
NM_000170.3(GLDC):c.255+8C>A
|
|
|
|
NM_000170.3(GLDC):c.255+9C>A
|
|
|
|
NM_000170.3(GLDC):c.255+9C>G
|
|
|
|
NM_000170.3(GLDC):c.255+9C>T
|
rs2130031617
|
|
|
NM_000170.3(GLDC):c.2550T>A (p.Ile850=)
|
|
|
|
NM_000170.3(GLDC):c.256-13G>A
|
|
|
|
NM_000170.3(GLDC):c.256-18C>G
|
|
|
|
NM_000170.3(GLDC):c.256-19C>T
|
|
|
|
NM_000170.3(GLDC):c.256-20G>T
|
|
|
|
NM_000170.3(GLDC):c.256-4T>A
|
|
|
|
NM_000170.3(GLDC):c.256-9T>C
|
rs747777485
|
|
|
NM_000170.3(GLDC):c.2561G>A (p.Gly854Asp)
|
rs1271552143
|
|
|
NM_000170.3(GLDC):c.2562T>A (p.Gly854=)
|
rs756304498
|
|
|
NM_000170.3(GLDC):c.2563G>A (p.Ala855Thr)
|
|
|
|
NM_000170.3(GLDC):c.2567G>C (p.Arg856Thr)
|
|
|
|
NM_000170.3(GLDC):c.2569+12C>G
|
|
|
|
NM_000170.3(GLDC):c.2569+13T>A
|
|
|
|
NM_000170.3(GLDC):c.2569+14T>G
|
|
|
|
NM_000170.3(GLDC):c.2569+16A>T
|
|
|
|
NM_000170.3(GLDC):c.2569+17A>T
|
|
|
|
NM_000170.3(GLDC):c.2569+18T>C
|
|
|
|
NM_000170.3(GLDC):c.2569+20T>C
|
|
|
|
NM_000170.3(GLDC):c.2569+7A>G
|
|
|
|
NM_000170.3(GLDC):c.2569+8T>G
|
rs894742250
|
|
|
NM_000170.3(GLDC):c.2569+9C>A
|
|
|
|
NM_000170.3(GLDC):c.2570-10T>A
|
|
|
|
NM_000170.3(GLDC):c.2570-14A>G
|
|
|
|
NM_000170.3(GLDC):c.2570-20G>T
|
|
|
|
NM_000170.3(GLDC):c.2570-2A>G
|
|
|
|
NM_000170.3(GLDC):c.2570-4A>G
|
|
|
|
NM_000170.3(GLDC):c.2570-8C>T
|
|
|
|
NM_000170.3(GLDC):c.2573A>C (p.Tyr858Ser)
|
|
|
|
NM_000170.3(GLDC):c.2574T>C (p.Tyr858=)
|
|
|
|
NM_000170.3(GLDC):c.2575G>T (p.Val859Leu)
|
rs1817224485
|
|
|
NM_000170.3(GLDC):c.2576T>A (p.Val859Glu)
|
rs2129663404
|
|
|
NM_000170.3(GLDC):c.2577G>A (p.Val859=)
|
rs935896982
|
|
|
NM_000170.3(GLDC):c.2577G>C (p.Val859=)
|
rs935896982
|
|
|
NM_000170.3(GLDC):c.2577G>T (p.Val859=)
|
rs935896982
|
|
|
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg)
|
rs753759723
|
|
|
NM_000170.3(GLDC):c.2579G>T (p.Gly860Val)
|
rs2129663355
|
|
|
NM_000170.3(GLDC):c.2583T>C (p.His861=)
|
|
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
|
NM_000170.3(GLDC):c.2593T>A (p.Leu865Met)
|
rs375375700
|
|
|
NM_000170.3(GLDC):c.2593T>C (p.Leu865=)
|
rs375375700
|
|
|
NM_000170.3(GLDC):c.2594del (p.Leu865fs)
|
|
|
|
NM_000170.3(GLDC):c.2596G>C (p.Asp866His)
|
rs2129663304
|
|
|
NM_000170.3(GLDC):c.2597A>G (p.Asp866Gly)
|
rs1817224032
|
|
|
NM_000170.3(GLDC):c.2598C>T (p.Asp866=)
|
|
|
|
NM_000170.3(GLDC):c.2601G>C (p.Thr867=)
|
|
|
|
NM_000170.3(GLDC):c.2601G>T (p.Thr867=)
|
|
|
|
NM_000170.3(GLDC):c.2603G>C (p.Arg868Thr)
|
rs1376198157
|
|
|
NM_000170.3(GLDC):c.2607C>G (p.Pro869=)
|
|
|
|
NM_000170.3(GLDC):c.260T>C (p.Ile87Thr)
|
rs561846684
|
|
|
NM_000170.3(GLDC):c.2610C>T (p.Phe870=)
|
|
|
|
NM_000170.3(GLDC):c.2616G>C (p.Lys872Asn)
|
rs778913771
|
|
|
NM_000170.3(GLDC):c.2625T>G (p.Asn875Lys)
|
|
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
|
NM_000170.3(GLDC):c.2633C>T (p.Ala878Val)
|
rs2129663100
|
|
|
NM_000170.3(GLDC):c.2634T>C (p.Ala878=)
|
|
|
|
NM_000170.3(GLDC):c.2637G>C (p.Val879=)
|
|
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
|
NM_000170.3(GLDC):c.263A>G (p.Asp88Gly)
|
|
|
|
NM_000170.3(GLDC):c.2643G>A (p.Val881=)
|
|
|
|
NM_000170.3(GLDC):c.2647A>C (p.Lys883Gln)
|
rs2129663030
|
|
|
NM_000170.3(GLDC):c.2649G>C (p.Lys883Asn)
|
|
|
|
NM_000170.3(GLDC):c.264T>G (p.Asp88Glu)
|
|
|
|
NM_000170.3(GLDC):c.2654T>C (p.Leu885Pro)
|
|
|
|
NM_000170.3(GLDC):c.2655C>G (p.Leu885=)
|
rs2129662984
|
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
|
NM_000170.3(GLDC):c.2665+10T>C
|
rs774684209
|
|
|
NM_000170.3(GLDC):c.2665+11T>A
|
|
|
|
NM_000170.3(GLDC):c.2665+15A>C
|
|
|
|
NM_000170.3(GLDC):c.2665+16C>T
|
|
|
|
NM_000170.3(GLDC):c.2665+1G>A
|
rs149070244
|
|
|
NM_000170.3(GLDC):c.2665+1G>T
|
|
|
|
NM_000170.3(GLDC):c.2665+20C>A
|
|
|
|
NM_000170.3(GLDC):c.2665+20C>T
|
|
|
|
NM_000170.3(GLDC):c.2665+4A>C
|
|
|
|
NM_000170.3(GLDC):c.2665+8G>A
|
rs761468673
|
|
|
NM_000170.3(GLDC):c.2665+9del
|
rs1432943603
|
|
|
NM_000170.3(GLDC):c.2666-10C>G
|
|
|
|
NM_000170.3(GLDC):c.2666-10C>T
|
|
|
|
NM_000170.3(GLDC):c.2666-12C>G
|
|
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
|
NM_000170.3(GLDC):c.2666-7T>G
|
|
|
|
NM_000170.3(GLDC):c.2666-8C>G
|
|
|
|
NM_000170.3(GLDC):c.2666-9C>T
|
|
|
|
NM_000170.3(GLDC):c.2674G>T (p.Ala892Ser)
|
|
|
|
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)
|
rs2129650066
|
|
|
NM_000170.3(GLDC):c.267A>G (p.Glu89=)
|
|
|
|
NM_000170.3(GLDC):c.2682C>G (p.Thr894=)
|
rs2129650044
|
|
|
NM_000170.3(GLDC):c.2688C>A (p.Ser896=)
|
rs2129650009
|
|
|
NM_000170.3(GLDC):c.2688C>T (p.Ser896=)
|
|
|
|
NM_000170.3(GLDC):c.2691G>A (p.Trp897Ter)
|
rs2129649998
|
|
|
NM_000170.3(GLDC):c.2694T>C (p.Pro898=)
|
rs147762931
|
|
|
NM_000170.3(GLDC):c.2695G>A (p.Val899Met)
|
rs2129649975
|
|
|
NM_000170.3(GLDC):c.26G>A (p.Gly9Glu)
|
|
|
|
NM_000170.3(GLDC):c.2703G>A (p.Gly901=)
|
|
|
|
NM_000170.3(GLDC):c.2703G>T (p.Gly901=)
|
|
|
|
NM_000170.3(GLDC):c.2706C>G (p.Thr902=)
|
rs752943013
|
|
|
NM_000170.3(GLDC):c.2709C>T (p.Leu903=)
|
|
|
|
NM_000170.3(GLDC):c.2715G>A (p.Val905=)
|
|
|
|
NM_000170.3(GLDC):c.2720C>T (p.Pro907Leu)
|
rs2129649871
|
|
|
NM_000170.3(GLDC):c.2723C>T (p.Thr908Ile)
|
|
|
|
NM_000170.3(GLDC):c.2724T>C (p.Thr908=)
|
|
|
|
NM_000170.3(GLDC):c.2727G>A (p.Glu909=)
|
rs2129649835
|
|
|
NM_000170.3(GLDC):c.2729C>T (p.Ser910Leu)
|
rs759933539
|
|
|
NM_000170.3(GLDC):c.2733G>A (p.Glu911=)
|
rs1397333445
|
|
|
NM_000170.3(GLDC):c.2736C>G (p.Asp912Glu)
|
|
|
|
NM_000170.3(GLDC):c.2742A>G (p.Ala914=)
|
rs374022098
|
|
|
NM_000170.3(GLDC):c.2746C>G (p.Leu916Val)
|
|
|
|
NM_000170.3(GLDC):c.2746C>T (p.Leu916=)
|
rs773430894
|
|
|
NM_000170.3(GLDC):c.2755T>A (p.Phe919Ile)
|
rs1817122724
|
|
|
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)
|
rs1817122724
|
|
|
NM_000170.3(GLDC):c.2760T>C (p.Cys920=)
|
|
|
|
NM_000170.3(GLDC):c.2763T>C (p.Asp921=)
|
rs2129649657
|
|
|
NM_000170.3(GLDC):c.2768T>C (p.Met923Thr)
|
rs2129649642
|
|
|
NM_000170.3(GLDC):c.2770_2774del (p.Ile924fs)
|
|
|
|
NM_000170.3(GLDC):c.2776A>G (p.Ile926Val)
|
|
|
|
NM_000170.3(GLDC):c.2778del (p.Arg927fs)
|
|
|
|
NM_000170.3(GLDC):c.2779C>T (p.Arg927Trp)
|
|
|
|
NM_000170.3(GLDC):c.2780G>A (p.Arg927Gln)
|
rs934940369
|
|
|
NM_000170.3(GLDC):c.2781G>T (p.Arg927=)
|
|
|
|
NM_000170.3(GLDC):c.2782C>T (p.Gln928Ter)
|
|
|
|
NM_000170.3(GLDC):c.2783A>G (p.Gln928Arg)
|
|
|
|
NM_000170.3(GLDC):c.2785G>A (p.Glu929Lys)
|
|
|
|
NM_000170.3(GLDC):c.2790T>C (p.Ile930=)
|
|
|
|
NM_000170.3(GLDC):c.2791del (p.Ala931fs)
|
|
|
|
NM_000170.3(GLDC):c.2798T>A (p.Ile933Asn)
|
rs758029533
|
|
|
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr)
|
rs758029533
|
|
|
NM_000170.3(GLDC):c.27G>A (p.Gly9=)
|
|
|
|
NM_000170.3(GLDC):c.2802G>T (p.Glu934Asp)
|
|
|
|
NM_000170.3(GLDC):c.2805G>A (p.Glu935=)
|
|
|
|
NM_000170.3(GLDC):c.2806G>A (p.Gly936Ser)
|
|
|
|
NM_000170.3(GLDC):c.2808C>T (p.Gly936=)
|
|
|
|
NM_000170.3(GLDC):c.2811C>T (p.Arg937=)
|
rs2129649432
|
|
|
NM_000170.3(GLDC):c.2815G>A (p.Asp939Asn)
|
|
|
|
NM_000170.3(GLDC):c.2819C>A (p.Pro940His)
|
rs2129649391
|
|
|
NM_000170.3(GLDC):c.2821A>C (p.Arg941=)
|
rs1587909520
|
|
|
NM_000170.3(GLDC):c.2824del (p.Val942fs)
|
rs2129649366
|
|
|
NM_000170.3(GLDC):c.282G>C (p.Thr94=)
|
rs769003941
|
|
|
NM_000170.3(GLDC):c.2835G>T (p.Leu945=)
|
|
|
|
NM_000170.3(GLDC):c.2838+10C>T
|
rs1587909491
|
|
|
NM_000170.3(GLDC):c.2838+11C>A
|
|
|
|
NM_000170.3(GLDC):c.2838+12C>G
|
|
|
|
NM_000170.3(GLDC):c.2838+14G>C
|
|
|
|
NM_000170.3(GLDC):c.2838+14G>T
|
|
|
|
NM_000170.3(GLDC):c.2838+16A>C
|
|
|
|
NM_000170.3(GLDC):c.2838+19A>G
|
|
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
|
NM_000170.3(GLDC):c.2838+4C>T
|
rs200680938
|
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
|
NM_000170.3(GLDC):c.2838+5G>T
|
|
|
|
NM_000170.3(GLDC):c.2838+8G>C
|
|
|
|
NM_000170.3(GLDC):c.2838+8G>T
|
rs1353016990
|
|
|
NM_000170.3(GLDC):c.2839-10T>C
|
rs750768090
|
|
|
NM_000170.3(GLDC):c.2839-12T>C
|
|
|
|
NM_000170.3(GLDC):c.2839-13G>T
|
|
|
|
NM_000170.3(GLDC):c.2839-13_2839-12del
|
|
|
|
NM_000170.3(GLDC):c.2839-19G>C
|
|
|
|
NM_000170.3(GLDC):c.2839-3C>T
|
rs1252272018
|
|
|
NM_000170.3(GLDC):c.2839-4T>C
|
rs2129645533
|
|
|
NM_000170.3(GLDC):c.2839-4T>G
|
|
|
|
NM_000170.3(GLDC):c.2839-5C>T
|
|
|
|
NM_000170.3(GLDC):c.2839-6T>C
|
|
|
|
NM_000170.3(GLDC):c.2839-7G>C
|
|
|
|
NM_000170.3(GLDC):c.2839-9C>G
|
|
|
|
NM_000170.3(GLDC):c.2841G>A (p.Met947Ile)
|
rs1214310966
|
|
|
NM_000170.3(GLDC):c.2841dup (p.Ser948fs)
|
|
|
|
NM_000170.3(GLDC):c.2843C>G (p.Ser948Cys)
|
rs1817084329
|
|
|
NM_000170.3(GLDC):c.2844T>C (p.Ser948=)
|
rs1817084254
|
|
|
NM_000170.3(GLDC):c.2844T>G (p.Ser948=)
|
rs1817084254
|
|
|
NM_000170.3(GLDC):c.2853C>A (p.Ser951=)
|
rs1365662392
|
|
|
NM_000170.3(GLDC):c.2853C>T (p.Ser951=)
|
|
|
|
NM_000170.3(GLDC):c.2859C>G (p.Thr953=)
|
rs1817083513
|
|
|
NM_000170.3(GLDC):c.2868A>C (p.Thr956=)
|
|
|
|
NM_000170.3(GLDC):c.2868A>G (p.Thr956=)
|
|
|
|
NM_000170.3(GLDC):c.2868A>T (p.Thr956=)
|
|
|
|
NM_000170.3(GLDC):c.286C>T (p.Pro96Ser)
|
|
|
|
NM_000170.3(GLDC):c.2870_2909del (p.Ser957fs)
|
rs2129645235
|
|
|
NM_000170.3(GLDC):c.2874C>A (p.Ser958=)
|
|
|
|
NM_000170.3(GLDC):c.2874C>G (p.Ser958=)
|
|
|
|
NM_000170.3(GLDC):c.2876A>C (p.His959Pro)
|
|
|
|
NM_000170.3(GLDC):c.2876A>G (p.His959Arg)
|
rs572523552
|
|
|
NM_000170.3(GLDC):c.2876_2877del (p.His959fs)
|
rs2129645358
|
|
|
NM_000170.3(GLDC):c.2877C>T (p.His959=)
|
|
|
|
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)
|
rs1172061571
|
|
|
NM_000170.3(GLDC):c.2885G>C (p.Arg962Pro)
|
|
|
|
NM_000170.3(GLDC):c.2886G>A (p.Arg962=)
|
|
|
|
NM_000170.3(GLDC):c.2890T>C (p.Tyr964His)
|
|
|
|
NM_000170.3(GLDC):c.289G>A (p.Ala97Thr)
|
rs1587989978
|
|
|
NM_000170.3(GLDC):c.28C>T (p.Leu10=)
|
|
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
|
NM_000170.3(GLDC):c.2900A>G (p.Glu967Gly)
|
|
|
|
NM_000170.3(GLDC):c.2904G>A (p.Val968=)
|
|
|
|
NM_000170.3(GLDC):c.2907A>C (p.Ala969=)
|
|
|
|
NM_000170.3(GLDC):c.2907A>G (p.Ala969=)
|
|
|
|
NM_000170.3(GLDC):c.2916A>T (p.Pro972=)
|
|
|
|
NM_000170.3(GLDC):c.2919+12G>T
|
|
|
|
NM_000170.3(GLDC):c.2919+16C>G
|
|
|
|
NM_000170.3(GLDC):c.2919+16C>T
|
rs775233747
|
|
|
NM_000170.3(GLDC):c.2919+18G>A
|
|
|
|
NM_000170.3(GLDC):c.2919+18G>C
|
|
|
|
NM_000170.3(GLDC):c.2919+1G>C
|
rs386833575
|
|
|
NM_000170.3(GLDC):c.2919+2dup
|
rs2129645182
|
|
|
NM_000170.3(GLDC):c.2919+5G>T
|
rs768091555
|
|
|
NM_000170.3(GLDC):c.2919+7del
|
|
|
|
NM_000170.3(GLDC):c.2919+9T>C
|
|
|
|
NM_000170.3(GLDC):c.2919C>G (p.Leu973=)
|
rs113736090
|
|
|
NM_000170.3(GLDC):c.291del (p.Asn98fs)
|
rs2130029354
|
|
|
NM_000170.3(GLDC):c.2920-14T>G
|
|
|
|
NM_000170.3(GLDC):c.2920-16C>A
|
|
|
|
NM_000170.3(GLDC):c.2920-18A>G
|
|
|
|
NM_000170.3(GLDC):c.2920-1G>C
|
rs1474611877
|
|
|
NM_000170.3(GLDC):c.2920-4G>A
|
|
|
|
NM_000170.3(GLDC):c.2920-8C>G
|
rs138786708
|
|
|
NM_000170.3(GLDC):c.2920C>T (p.Pro974Ser)
|
rs949553434
|
|
|
NM_000170.3(GLDC):c.2922C>G (p.Pro974=)
|
|
|
|
NM_000170.3(GLDC):c.2922C>T (p.Pro974=)
|
rs2129641379
|
|
|
NM_000170.3(GLDC):c.2928G>A (p.Val976=)
|
|
|
|
NM_000170.3(GLDC):c.2930A>C (p.Lys977Thr)
|
rs2129641363
|
|
|
NM_000170.3(GLDC):c.2937G>C (p.Glu979Asp)
|
rs1271866161
|
|
|
NM_000170.3(GLDC):c.2940C>T (p.Asn980=)
|
|
|
|
NM_000170.3(GLDC):c.2943A>G (p.Lys981=)
|
|
|
|
NM_000170.3(GLDC):c.2946C>T (p.Phe982=)
|
rs1270215089
|
|
|
NM_000170.3(GLDC):c.294C>A (p.Asn98Lys)
|
rs1819702080
|
|
|
NM_000170.3(GLDC):c.294C>T (p.Asn98=)
|
rs1819702080
|
|
|
NM_000170.3(GLDC):c.2954C>T (p.Thr985Met)
|
|
|
|
NM_000170.3(GLDC):c.2956A>T (p.Ile986Phe)
|
|
|
|
NM_000170.3(GLDC):c.2957T>C (p.Ile986Thr)
|
rs1817036068
|
|
|
NM_000170.3(GLDC):c.2962C>A (p.Arg988=)
|
|
|
|
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp)
|
rs1288008254
|
|
|
NM_000170.3(GLDC):c.2964G>C (p.Arg988=)
|
rs146045718
|
|
|
NM_000170.3(GLDC):c.2965A>G (p.Ile989Val)
|
|
|
|
NM_000170.3(GLDC):c.2970T>C (p.Asp990=)
|
rs764054067
|
|
|
NM_000170.3(GLDC):c.2970T>G (p.Asp990Glu)
|
|
|
|
NM_000170.3(GLDC):c.2973C>T (p.Asp991=)
|
|
|
|
NM_000170.3(GLDC):c.2978A>G (p.Tyr993Cys)
|
|
|
|
NM_000170.3(GLDC):c.2978_2979del (p.Tyr993fs)
|
|
|
|
NM_000170.3(GLDC):c.2978dup (p.Tyr993Ter)
|
|
|
|
NM_000170.3(GLDC):c.2982A>C (p.Gly994=)
|
|
|
|
NM_000170.3(GLDC):c.2982A>G (p.Gly994=)
|
|
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
|
NM_000170.3(GLDC):c.2983G>T (p.Asp995Tyr)
|
rs1554641505
|
|
|
NM_000170.3(GLDC):c.2985T>C (p.Asp995=)
|
|
|
|
NM_000170.3(GLDC):c.2986C>T (p.Gln996Ter)
|
rs1296191006
|
|
|
NM_000170.3(GLDC):c.2988G>A (p.Gln996=)
|
rs138640017
|
|
|
NM_000170.3(GLDC):c.2990A>G (p.His997Arg)
|
rs2129641211
|
|
|
NM_000170.3(GLDC):c.2991C>A (p.His997Gln)
|
rs757398632
|
|
|
NM_000170.3(GLDC):c.2991C>T (p.His997=)
|
rs757398632
|
|
|
NM_000170.3(GLDC):c.2992C>T (p.Leu998=)
|
|
|
|
NM_000170.3(GLDC):c.2993T>G (p.Leu998Arg)
|
rs1817035007
|
|
|
NM_000170.3(GLDC):c.2995G>A (p.Val999Ile)
|
rs2129641188
|
|
|
NM_000170.3(GLDC):c.2997T>C (p.Val999=)
|
|
|
|
NM_000170.3(GLDC):c.2997T>G (p.Val999=)
|
|
|
|
NM_000170.3(GLDC):c.2T>A (p.Met1Lys)
|
rs121964978
|
|
|
NM_000170.3(GLDC):c.2T>C (p.Met1Thr)
|
rs121964978
|
|
|
NM_000170.3(GLDC):c.3000T>C (p.Cys1000=)
|
|
|
|
NM_000170.3(GLDC):c.3007C>T (p.Pro1003Ser)
|
|
|
|
NM_000170.3(GLDC):c.3009A>T (p.Pro1003=)
|
|
|
|
NM_000170.3(GLDC):c.3018A>G (p.Glu1006=)
|
rs1179382589
|
|
|
NM_000170.3(GLDC):c.3019G>A (p.Val1007Ile)
|
rs112299567
|
|
|
NM_000170.3(GLDC):c.3019G>T (p.Val1007Phe)
|
rs112299567
|
|
|
NM_000170.3(GLDC):c.3039T>C (p.Ser1013=)
|
rs2129641096
|
|
|
NM_000170.3(GLDC):c.3040G>T (p.Glu1014Ter)
|
rs1444245039
|
|
|
NM_000170.3(GLDC):c.3045A>T (p.Gln1015His)
|
rs2129641086
|
|
|
NM_000170.3(GLDC):c.3050G>A (p.Arg1017Lys)
|
rs1294726700
|
|
|
NM_000170.3(GLDC):c.3050G>T (p.Arg1017Met)
|
rs1294726700
|
|
|
NM_000170.3(GLDC):c.3053C>T (p.Ala1018Val)
|
|
|
|
NM_000170.3(GLDC):c.3057T>A (p.Ser1019=)
|
rs2129641056
|
|
|
NM_000170.3(GLDC):c.3061del (p.Ter1021SerextTer?)
|
|
|
|
NM_000170.3(GLDC):c.307A>C (p.Arg103=)
|
rs781076791
|
|
|
NM_000170.3(GLDC):c.307dup (p.Arg103fs)
|
rs2130029302
|
|
|
NM_000170.3(GLDC):c.309A>G (p.Arg103=)
|
|
|
|
NM_000170.3(GLDC):c.312C>G (p.Pro104=)
|
rs764472892
|
|
|
NM_000170.3(GLDC):c.312C>T (p.Pro104=)
|
|
|
|
NM_000170.3(GLDC):c.313T>C (p.Leu105=)
|
|
|
|
NM_000170.3(GLDC):c.315G>T (p.Leu105Phe)
|
|
|
|
NM_000170.3(GLDC):c.316A>G (p.Lys106Glu)
|
|
|
|
NM_000170.3(GLDC):c.319del (p.Met107fs)
|
|
|
|
NM_000170.3(GLDC):c.322G>T (p.Glu108Ter)
|
rs2130029228
|
|
|
NM_000170.3(GLDC):c.331_332insCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGGAAGACCCTG (p.Val111delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
|
NM_000170.3(GLDC):c.334+10C>G
|
|
|
|
NM_000170.3(GLDC):c.334+11G>A
|
|
|
|
NM_000170.3(GLDC):c.334+12G>A
|
|
|
|
NM_000170.3(GLDC):c.334+13G>A
|
rs749620185
|
|
|
NM_000170.3(GLDC):c.334+16_334+22del
|
rs1819700494
|
|
|
NM_000170.3(GLDC):c.334+17G>T
|
|
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
|
NM_000170.3(GLDC):c.334+20C>G
|
rs368832194
|
|
|
NM_000170.3(GLDC):c.334+20C>T
|
rs368832194
|
|
|
NM_000170.3(GLDC):c.334+8G>A
|
|
|
|
NM_000170.3(GLDC):c.334+8G>C
|
rs773212382
|
|
|
NM_000170.3(GLDC):c.334+9C>G
|
rs771413015
|
|
|
NM_000170.3(GLDC):c.335-15T>G
|
rs1819064204
|
|
|
NM_000170.3(GLDC):c.335-17C>G
|
|
|
|
NM_000170.3(GLDC):c.335-17_335-16del
|
|
|
|
NM_000170.3(GLDC):c.335-19C>T
|
rs773889966
|
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
|
NM_000170.3(GLDC):c.335-20T>C
|
|
|
|
NM_000170.3(GLDC):c.335-6A>G
|
|
|
|
NM_000170.3(GLDC):c.335-8A>C
|
rs770049528
|
|
|
NM_000170.3(GLDC):c.335-8A>G
|
|
|
|
NM_000170.3(GLDC):c.335G>A (p.Cys112Tyr)
|
|
|
|
NM_000170.3(GLDC):c.33C>A (p.Arg11=)
|
|
|
|
NM_000170.3(GLDC):c.34C>T (p.Leu12=)
|
rs1819728398
|
|
|
NM_000170.3(GLDC):c.351T>C (p.Leu117=)
|
rs2129949270
|
|
|
NM_000170.3(GLDC):c.356_362del (p.Thr119fs)
|
|
|
|
NM_000170.3(GLDC):c.357_358insTAAACT (p.Leu120Ter)
|
rs2129949245
|
|
|
NM_000170.3(GLDC):c.358C>G (p.Leu120Val)
|
rs758562313
|
|
|
NM_000170.3(GLDC):c.35T>C (p.Leu12Pro)
|
rs1819728347
|
|
|
NM_000170.3(GLDC):c.360G>C (p.Leu120=)
|
|
|
|
NM_000170.3(GLDC):c.360G>T (p.Leu120=)
|
|
|
|
NM_000170.3(GLDC):c.362A>G (p.His121Arg)
|
|
|
|
NM_000170.3(GLDC):c.365C>T (p.Ala122Val)
|
rs748248885
|
|
|
NM_000170.3(GLDC):c.367A>G (p.Ile123Val)
|
|
|
|
NM_000170.3(GLDC):c.369T>C (p.Ile123=)
|
rs2129949164
|
|
|
NM_000170.3(GLDC):c.36G>C (p.Leu12=)
|
rs1476935488
|
|
|
NM_000170.3(GLDC):c.371C>T (p.Ser124Leu)
|
rs1819062238
|
|
|
NM_000170.3(GLDC):c.372A>G (p.Ser124=)
|
|
|
|
NM_000170.3(GLDC):c.381C>G (p.Asn127Lys)
|
rs767326222
|
|
|
NM_000170.3(GLDC):c.381C>T (p.Asn127=)
|
rs767326222
|
|
|
NM_000170.3(GLDC):c.383A>G (p.Gln128Arg)
|
rs1819061825
|
|
|
NM_000170.3(GLDC):c.384G>C (p.Gln128His)
|
rs2129949115
|
|
|
NM_000170.3(GLDC):c.384G>T (p.Gln128His)
|
|
|
|
NM_000170.3(GLDC):c.391A>C (p.Arg131=)
|
|
|
|
NM_000170.3(GLDC):c.393A>G (p.Arg131=)
|
|
|
|
NM_000170.3(GLDC):c.395C>A (p.Ser132Ter)
|
|
|
|
NM_000170.3(GLDC):c.396G>T (p.Ser132=)
|
rs542613459
|
|
|
NM_000170.3(GLDC):c.398A>C (p.Tyr133Ser)
|
|
|
|
NM_000170.3(GLDC):c.399T>C (p.Tyr133=)
|
|
|
|
NM_000170.3(GLDC):c.39C>T (p.Gly13=)
|
rs1819728146
|
|
|
NM_000170.3(GLDC):c.405C>T (p.Gly135=)
|
|
|
|
NM_000170.3(GLDC):c.411_412insAATA (p.Tyr138fs)
|
rs1563864784
|
|
|
NM_000170.3(GLDC):c.420C>T (p.Asn140=)
|
|
|
|
NM_000170.3(GLDC):c.421T>C (p.Cys141Arg)
|
rs759792163
|
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
|
NM_000170.3(GLDC):c.429G>A (p.Val143=)
|
|
|
|
NM_000170.3(GLDC):c.42C>T (p.Arg14=)
|
rs2130032913
|
|
|
NM_000170.3(GLDC):c.431C>A (p.Pro144Gln)
|
rs747464155
|
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
|
NM_000170.3(GLDC):c.438G>T (p.Thr146=)
|
rs13289273
|
|
|
NM_000170.3(GLDC):c.443T>C (p.Leu148Ser)
|
rs1819059273
|
|
|
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)
|
rs386833578
|
|
|
NM_000170.3(GLDC):c.44G>A (p.Gly15Glu)
|
rs1405876098
|
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
|
NM_000170.3(GLDC):c.452T>G (p.Leu151Ter)
|
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
|
NM_000170.3(GLDC):c.462C>T (p.Asn154=)
|
|
|
|
NM_000170.3(GLDC):c.465A>G (p.Ser155=)
|
|
|
|
NM_000170.3(GLDC):c.466G>C (p.Gly156Arg)
|
rs1819058509
|
|
|
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)
|
rs2129948795
|
|
|
NM_000170.3(GLDC):c.468A>G (p.Gly156=)
|
rs2129948789
|
|
|
NM_000170.3(GLDC):c.470+10T>C
|
|
|
|
NM_000170.3(GLDC):c.470+16G>C
|
|
|
|
NM_000170.3(GLDC):c.470+17T>C
|
|
|
|
NM_000170.3(GLDC):c.470+1G>C
|
|
|
|
NM_000170.3(GLDC):c.470+4A>G
|
rs2129948774
|
|
|
NM_000170.3(GLDC):c.470+9T>C
|
rs2129948755
|
|
|
NM_000170.3(GLDC):c.471-12T>C
|
|
|
|
NM_000170.3(GLDC):c.471-13G>T
|
|
|
|
NM_000170.3(GLDC):c.471-14T>G
|
|
|
|
NM_000170.3(GLDC):c.471-15T>A
|
rs1310810720
|
|
|
NM_000170.3(GLDC):c.471-15T>C
|
|
|
|
NM_000170.3(GLDC):c.471-17T>A
|
|
|
|
NM_000170.3(GLDC):c.471-18C>G
|
|
|
|
NM_000170.3(GLDC):c.471-18C>T
|
|
|
|
NM_000170.3(GLDC):c.471-1G>C
|
rs1818826951
|
|
|
NM_000170.3(GLDC):c.471-1G>T
|
|
|
|
NM_000170.3(GLDC):c.471-20A>T
|
|
|
|
NM_000170.3(GLDC):c.471-5dup
|
rs2129916881
|
|
|
NM_000170.3(GLDC):c.471-7C>G
|
rs1362669104
|
|
|
NM_000170.3(GLDC):c.472A>G (p.Ile158Val)
|
|
|
|
NM_000170.3(GLDC):c.474C>T (p.Ile158=)
|
rs2129916861
|
|
|
NM_000170.3(GLDC):c.478C>T (p.Gln160Ter)
|
rs1264725941
|
|
|
NM_000170.3(GLDC):c.480G>A (p.Gln160=)
|
|
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
|
NM_000170.3(GLDC):c.490T>C (p.Tyr164His)
|
|
|
|
NM_000170.3(GLDC):c.492C>G (p.Tyr164Ter)
|
rs746124283
|
|
|
NM_000170.3(GLDC):c.493C>G (p.Gln165Glu)
|
rs2129916804
|
|
|
NM_000170.3(GLDC):c.498T>G (p.Pro166=)
|
|
|
|
NM_000170.3(GLDC):c.49G>C (p.Gly17Arg)
|
|
|
|
NM_000170.3(GLDC):c.4C>A (p.Gln2Lys)
|
rs1554652870
|
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
|
NM_000170.3(GLDC):c.504G>A (p.Val168=)
|
|
|
|
NM_000170.3(GLDC):c.504G>T (p.Val168=)
|
|
|
|
NM_000170.3(GLDC):c.509_510del (p.Gln170fs)
|
rs2129916678
|
|
|
NM_000170.3(GLDC):c.510G>A (p.Gln170=)
|
|
|
|
NM_000170.3(GLDC):c.51G>C (p.Gly17=)
|
rs947785805
|
|
|
NM_000170.3(GLDC):c.527T>C (p.Leu176Ser)
|
|
|
|
NM_000170.3(GLDC):c.527del (p.Leu176fs)
|
rs1563859767
|
|
|
NM_000170.3(GLDC):c.531C>G (p.Leu177=)
|
rs763706954
|
|
|
NM_000170.3(GLDC):c.531C>T (p.Leu177=)
|
|
|
|
NM_000170.3(GLDC):c.533A>G (p.Asn178Ser)
|
|
|
|
NM_000170.3(GLDC):c.534C>T (p.Asn178=)
|
rs375402770
|
|
|
NM_000170.3(GLDC):c.543C>T (p.Thr181=)
|
|
|
|
NM_000170.3(GLDC):c.547del (p.Val183fs)
|
|
|
|
NM_000170.3(GLDC):c.550T>A (p.Cys184Ser)
|
|
|
|
NM_000170.3(GLDC):c.551G>A (p.Cys184Tyr)
|
rs1263123723
|
|
|
NM_000170.3(GLDC):c.555C>T (p.Asp185=)
|
rs2129916426
|
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
|
NM_000170.3(GLDC):c.564C>A (p.Gly188=)
|
|
|
|
NM_000170.3(GLDC):c.567G>A (p.Leu189=)
|
|
|
|
NM_000170.3(GLDC):c.570C>T (p.Asp190=)
|
rs574428768
|
|
|
NM_000170.3(GLDC):c.573_574insA (p.Ala192fs)
|
|
|
|
NM_000170.3(GLDC):c.575C>G (p.Ala192Gly)
|
rs2129916367
|
|
|
NM_000170.3(GLDC):c.579T>C (p.Asn193=)
|
|
|
|
NM_000170.3(GLDC):c.580G>T (p.Ala194Ser)
|
|
|
|
NM_000170.3(GLDC):c.582A>G (p.Ala194=)
|
rs1587964992
|
|
|
NM_000170.3(GLDC):c.582_589del (p.Ser195fs)
|
|
|
|
NM_000170.3(GLDC):c.585_589del (p.Leu196fs)
|
|
|
|
NM_000170.3(GLDC):c.586del (p.Leu196fs)
|
rs2129916327
|
|
|
NM_000170.3(GLDC):c.589C>T (p.Leu197=)
|
rs1461615694
|
|
|
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
|
|
|
|
NM_000170.3(GLDC):c.600G>T (p.Gly200=)
|
|
|
|
NM_000170.3(GLDC):c.600del (p.Thr201fs)
|
rs2129916293
|
|
|
NM_000170.3(GLDC):c.602C>G (p.Thr201Ser)
|
|
|
|
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)
|
rs386833583
|
|
|
NM_000170.3(GLDC):c.609C>A (p.Ala203=)
|
|
|
|
NM_000170.3(GLDC):c.609C>G (p.Ala203=)
|
rs201699152
|
|
|
NM_000170.3(GLDC):c.609C>T (p.Ala203=)
|
rs201699152
|
|
|
NM_000170.3(GLDC):c.610G>A (p.Ala204Thr)
|
|
|
|
NM_000170.3(GLDC):c.613del (p.Glu205fs)
|
rs2129916235
|
|
|
NM_000170.3(GLDC):c.618A>G (p.Ala206=)
|
rs764552944
|
|
|
NM_000170.3(GLDC):c.622C>A (p.Gln208Lys)
|
|
|
|
NM_000170.3(GLDC):c.624G>T (p.Gln208His)
|
rs1385183318
|
|
|
NM_000170.3(GLDC):c.625C>T (p.Leu209=)
|
|
|
|
NM_000170.3(GLDC):c.627G>A (p.Leu209=)
|
|
|
|
NM_000170.3(GLDC):c.629G>A (p.Cys210Tyr)
|
|
|
|
NM_000170.3(GLDC):c.634A>C (p.Arg212=)
|
rs1212968746
|
|
|
NM_000170.3(GLDC):c.635+10C>T
|
|
|
|
NM_000170.3(GLDC):c.635+14C>T
|
|
|
|
NM_000170.3(GLDC):c.635+15A>G
|
|
|
|
NM_000170.3(GLDC):c.635+16A>T
|
rs182471927
|
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
|
NM_000170.3(GLDC):c.635+1G>T
|
|
|
|
NM_000170.3(GLDC):c.635+3G>C
|
|
|
|
NM_000170.3(GLDC):c.635+7G>A
|
|
|
|
NM_000170.3(GLDC):c.635+8G>A
|
rs760774268
|
|
|
NM_000170.3(GLDC):c.635+9C>A
|
rs775573191
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
|
NM_000170.3(GLDC):c.636-12T>C
|
|
|
|
NM_000170.3(GLDC):c.636-12del
|
|
|
|
NM_000170.3(GLDC):c.636-15T>C
|
|
|
|
NM_000170.3(GLDC):c.636-17C>G
|
|
|
|
NM_000170.3(GLDC):c.636-18G>A
|
|
|
|
NM_000170.3(GLDC):c.636-1G>T
|
|
|
|
NM_000170.3(GLDC):c.636-20G>T
|
|
|
|
NM_000170.3(GLDC):c.636-2A>G
|
|
|
|
NM_000170.3(GLDC):c.636-5A>G
|
rs1818740864
|
|
|
NM_000170.3(GLDC):c.636-5A>T
|
|
|
|
NM_000170.3(GLDC):c.636-6C>T
|
rs2129903875
|
|
|
NM_000170.3(GLDC):c.636-7T>C
|
|
|
|
NM_000170.3(GLDC):c.636-9T>C
|
rs1254322993
|
|
|
NM_000170.3(GLDC):c.636A>G (p.Arg212=)
|
|
|
|
NM_000170.3(GLDC):c.639C>T (p.His213=)
|
|
|
|
NM_000170.3(GLDC):c.639CAA[1] (p.Asn214del)
|
rs1222749984
|
|
|
NM_000170.3(GLDC):c.63C>T (p.Arg21=)
|
|
|
|
NM_000170.3(GLDC):c.642C>G (p.Asn214Lys)
|
rs775546889
|
|
|
NM_000170.3(GLDC):c.643A>G (p.Lys215Glu)
|
rs907616957
|
|
|
NM_000170.3(GLDC):c.645G>A (p.Lys215=)
|
rs1818740340
|
|
|
NM_000170.3(GLDC):c.646A>C (p.Arg216=)
|
|
|
|
NM_000170.3(GLDC):c.646A>T (p.Arg216Trp)
|
|
|
|
NM_000170.3(GLDC):c.64C>T (p.Leu22=)
|
|
|
|
NM_000170.3(GLDC):c.663T>G (p.Val221=)
|
rs2129903677
|
|
|
NM_000170.3(GLDC):c.669C>A (p.Pro223=)
|
|
|
|
NM_000170.3(GLDC):c.66G>C (p.Leu22=)
|
rs1337924090
|
|
|
NM_000170.3(GLDC):c.66G>T (p.Leu22=)
|
rs1337924090
|
|
|
NM_000170.3(GLDC):c.675C>T (p.Cys225=)
|
|
|
|
NM_000170.3(GLDC):c.678C>A (p.His226Gln)
|
|
|
|
NM_000170.3(GLDC):c.681A>C (p.Pro227=)
|
|
|
|
NM_000170.3(GLDC):c.681A>G (p.Pro227=)
|
rs1818739152
|
|
|
NM_000170.3(GLDC):c.682C>T (p.Gln228Ter)
|
|
|
|
NM_000170.3(GLDC):c.684G>A (p.Gln228=)
|
rs2129903563
|
|
|
NM_000170.3(GLDC):c.689T>C (p.Ile230Thr)
|
|
|
|
NM_000170.3(GLDC):c.704C>G (p.Thr235Ser)
|
|
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
|
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)
|
rs772832052
|
|
|
NM_000170.3(GLDC):c.708_709del (p.Ala237fs)
|
|
|
|
NM_000170.3(GLDC):c.70G>T (p.Gly24Trp)
|
|
|
|
NM_000170.3(GLDC):c.712A>C (p.Lys238Gln)
|
rs2129903388
|
|
|
NM_000170.3(GLDC):c.713+12G>C
|
|
|
|
NM_000170.3(GLDC):c.713+13A>T
|
|
|
|
NM_000170.3(GLDC):c.713+14T>G
|
rs560495542
|
|
|
NM_000170.3(GLDC):c.713+17G>C
|
|
|
|
NM_000170.3(GLDC):c.713+18T>A
|
|
|
|
NM_000170.3(GLDC):c.713+18del
|
|
|
|
NM_000170.3(GLDC):c.713+19G>A
|
|
|
|
NM_000170.3(GLDC):c.713+1G>A
|
rs903653902
|
|
|
NM_000170.3(GLDC):c.713+7_713+10del
|
rs2129903352
|
|
|
NM_000170.3(GLDC):c.713+8A>G
|
|
|
|
NM_000170.3(GLDC):c.713+8A>T
|
rs367971072
|
|
|
NM_000170.3(GLDC):c.713+9T>C
|
|
|
|
NM_000170.3(GLDC):c.714-10G>A
|
|
|
|
NM_000170.3(GLDC):c.714-11T>C
|
|
|
|
NM_000170.3(GLDC):c.714-13T>A
|
|
|
|
NM_000170.3(GLDC):c.714-15_714-13del
|
rs780790361
|
|
|
NM_000170.3(GLDC):c.714-17G>T
|
|
|
|
NM_000170.3(GLDC):c.714-18T>C
|
|
|
|
NM_000170.3(GLDC):c.714-19T>C
|
|
|
|
NM_000170.3(GLDC):c.714-19T>G
|
rs1387477311
|
|
|
NM_000170.3(GLDC):c.714-1G>A
|
rs2129898670
|
|
|
NM_000170.3(GLDC):c.714-4C>A
|
rs1206369229
|
|
|
NM_000170.3(GLDC):c.714-4C>G
|
rs1206369229
|
|
|
NM_000170.3(GLDC):c.714-5T>A
|
|
|
|
NM_000170.3(GLDC):c.714-8C>G
|
rs746399537
|
|
|
NM_000170.3(GLDC):c.714-9T>C
|
rs2129898712
|
|
|
NM_000170.3(GLDC):c.719C>A (p.Thr240Asn)
|
|
|
|
NM_000170.3(GLDC):c.719C>T (p.Thr240Ile)
|
rs1563857096
|
|
|
NM_000170.3(GLDC):c.71G>A (p.Gly24Glu)
|
rs967983950
|
|
|
NM_000170.3(GLDC):c.720T>C (p.Thr240=)
|
rs2129898600
|
|
|
NM_000170.3(GLDC):c.721G>A (p.Gly241Arg)
|
rs2129898592
|
|
|
NM_000170.3(GLDC):c.723A>G (p.Gly241=)
|
|
|
|
NM_000170.3(GLDC):c.726C>T (p.Val242=)
|
rs377750481
|
|
|
NM_000170.3(GLDC):c.72G>A (p.Gly24=)
|
rs1161994258
|
|
|
NM_000170.3(GLDC):c.72G>C (p.Gly24=)
|
rs1161994258
|
|
|
NM_000170.3(GLDC):c.747C>G (p.Pro249=)
|
|
|
|
NM_000170.3(GLDC):c.759C>T (p.Asp253=)
|
|
|
|
NM_000170.3(GLDC):c.771A>T (p.Lys257Asn)
|
|
|
|
NM_000170.3(GLDC):c.772G>T (p.Asp258Tyr)
|
rs369719863
|
|
|
NM_000170.3(GLDC):c.775G>C (p.Val259Leu)
|
|
|
|
NM_000170.3(GLDC):c.777C>T (p.Val259=)
|
|
|
|
NM_000170.3(GLDC):c.77C>A (p.Ser26Ter)
|
rs2130032664
|
|
|
NM_000170.3(GLDC):c.780T>C (p.Ser260=)
|
rs2129898347
|
|
|
NM_000170.3(GLDC):c.782G>C (p.Gly261Ala)
|
|
|
|
NM_000170.3(GLDC):c.783A>T (p.Gly261=)
|
|
|
|
NM_000170.3(GLDC):c.78G>A (p.Ser26=)
|
rs915226152
|
|
|
NM_000170.3(GLDC):c.78G>T (p.Ser26=)
|
|
|
|
NM_000170.3(GLDC):c.790T>C (p.Phe264Leu)
|
rs1038444873
|
|
|
NM_000170.3(GLDC):c.792C>T (p.Phe264=)
|
|
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
|
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)
|
rs1818705322
|
|
|
NM_000170.3(GLDC):c.798C>G (p.Tyr266Ter)
|
rs2129898271
|
|
|
NM_000170.3(GLDC):c.80_93del (p.Gly27fs)
|
|
|
|
NM_000170.3(GLDC):c.810G>A (p.Glu270=)
|
rs760055824
|
|
|
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
|
|
|
|
NM_000170.3(GLDC):c.815A>C (p.Lys272Thr)
|
|
|
|
NM_000170.3(GLDC):c.815A>G (p.Lys272Arg)
|
rs566939288
|
|
|
NM_000170.3(GLDC):c.815A>T (p.Lys272Met)
|
|
|
|
NM_000170.3(GLDC):c.819G>A (p.Val273=)
|
rs2129898179
|
|
|
NM_000170.3(GLDC):c.81G>A (p.Gly27=)
|
rs1457809070
|
|
|
NM_000170.3(GLDC):c.81G>T (p.Gly27=)
|
|
|
|
NM_000170.3(GLDC):c.825C>G (p.Asp275Glu)
|
rs1818704651
|
|
|
NM_000170.3(GLDC):c.827T>C (p.Phe276Ser)
|
rs967825860
|
|
|
NM_000170.3(GLDC):c.830C>G (p.Thr277Arg)
|
|
|
|
NM_000170.3(GLDC):c.830C>T (p.Thr277Met)
|
|
|
|
NM_000170.3(GLDC):c.831G>C (p.Thr277=)
|
rs369824891
|
|
|
NM_000170.3(GLDC):c.831G>T (p.Thr277=)
|
rs369824891
|
|
|
NM_000170.3(GLDC):c.834A>G (p.Glu278=)
|
|
|
|
NM_000170.3(GLDC):c.835C>A (p.Leu279Ile)
|
|
|
|
NM_000170.3(GLDC):c.837C>T (p.Leu279=)
|
rs755904706
|
|
|
NM_000170.3(GLDC):c.840G>A (p.Val280=)
|
|
|
|
NM_000170.3(GLDC):c.840G>T (p.Val280=)
|
rs781162390
|
|
|
NM_000170.3(GLDC):c.843G>T (p.Glu281Asp)
|
rs1563857008
|
|
|
NM_000170.3(GLDC):c.846_847del (p.Arg282fs)
|
|
|
|
NM_000170.3(GLDC):c.847G>A (p.Ala283Thr)
|
rs386833589
|
|
|
NM_000170.3(GLDC):c.849T>C (p.Ala283=)
|
rs2129898030
|
|
|
NM_000170.3(GLDC):c.84G>A (p.Pro28=)
|
|
|
|
NM_000170.3(GLDC):c.84G>C (p.Pro28=)
|
rs1259938806
|
|
|
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
|
|
|
|
NM_000170.3(GLDC):c.858T>G (p.Ser286Arg)
|
|
|
|
NM_000170.3(GLDC):c.859G>C (p.Gly287Arg)
|
rs1291181951
|
|
|
NM_000170.3(GLDC):c.859G>T (p.Gly287Trp)
|
rs1291181951
|
|
|
NM_000170.3(GLDC):c.861+11C>G
|
rs757254927
|
|
|
NM_000170.3(GLDC):c.861+18G>C
|
|
|
|
NM_000170.3(GLDC):c.861+18G>T
|
rs1387226807
|
|
|
NM_000170.3(GLDC):c.861+20G>T
|
|
|
|
NM_000170.3(GLDC):c.861+2T>A
|
rs2129897960
|
|
|
NM_000170.3(GLDC):c.861+2T>C
|
|
|
|
NM_000170.3(GLDC):c.861+4G>A
|
|
|
|
NM_000170.3(GLDC):c.861+5G>A
|
rs192663616
|
|
|
NM_000170.3(GLDC):c.861+5G>C
|
rs192663616
|
|
|
NM_000170.3(GLDC):c.861+7dup
|
rs2129897938
|
|
|
NM_000170.3(GLDC):c.861+8_861+9del
|
rs753142140
|
|
|
NM_000170.3(GLDC):c.861G>C (p.Gly287=)
|
rs540315265
|
|
|
NM_000170.3(GLDC):c.861G>T (p.Gly287=)
|
|
|
|
NM_000170.3(GLDC):c.862-10T>A
|
rs1264036061
|
|
|
NM_000170.3(GLDC):c.862-16C>T
|
rs780268150
|
|
|
NM_000170.3(GLDC):c.862-18C>G
|
|
|
|
NM_000170.3(GLDC):c.862-18C>T
|
|
|
|
NM_000170.3(GLDC):c.862-5_883del
|
rs2129896575
|
|
|
NM_000170.3(GLDC):c.862-7T>C
|
rs761854548
|
|
|
NM_000170.3(GLDC):c.862-7T>G
|
rs761854548
|
|
|
NM_000170.3(GLDC):c.862-8C>G
|
|
|
|
NM_000170.3(GLDC):c.862-9C>G
|
rs1818696548
|
|
|
NM_000170.3(GLDC):c.862-9C>T
|
|
|
|
NM_000170.3(GLDC):c.862-9_862-6del
|
rs2129896706
|
|
|
NM_000170.3(GLDC):c.864C>T (p.Ser288=)
|
|
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
|
NM_000170.3(GLDC):c.872G>A (p.Cys291Tyr)
|
rs777632051
|
|
|
NM_000170.3(GLDC):c.879T>A (p.Ala293=)
|
rs776503486
|
|
|
NM_000170.3(GLDC):c.87C>T (p.Cys29=)
|
rs2130032585
|
|
|
NM_000170.3(GLDC):c.880A>G (p.Thr294Ala)
|
rs1818695779
|
|
|
NM_000170.3(GLDC):c.882T>C (p.Thr294=)
|
rs757906469
|
|
|
NM_000170.3(GLDC):c.885C>G (p.Asp295Glu)
|
|
|
|
NM_000170.3(GLDC):c.88T>A (p.Trp30Arg)
|
|
|
|
NM_000170.3(GLDC):c.894T>C (p.Ala298=)
|
rs2129896515
|
|
|
NM_000170.3(GLDC):c.89G>A (p.Trp30Ter)
|
rs1819724531
|
|
|
NM_000170.3(GLDC):c.89G>T (p.Trp30Leu)
|
|
|
|
NM_000170.3(GLDC):c.8C>A (p.Ser3Tyr)
|
|
|
|
NM_000170.3(GLDC):c.903C>T (p.Ile301=)
|
rs1818695265
|
|
|
NM_000170.3(GLDC):c.906G>A (p.Leu302=)
|
|
|
|
NM_000170.3(GLDC):c.90G>A (p.Trp30Ter)
|
|
|
|
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)
|
rs1207147043
|
|
|
NM_000170.3(GLDC):c.912A>G (p.Pro304=)
|
|
|
|
NM_000170.3(GLDC):c.913C>A (p.Pro305Thr)
|
rs370964168
|
|
|
NM_000170.3(GLDC):c.918A>C (p.Gly306=)
|
rs1157125186
|
|
|
NM_000170.3(GLDC):c.918A>G (p.Gly306=)
|
|
|
|
NM_000170.3(GLDC):c.91G>T (p.Ala31Ser)
|
|
|
|
NM_000170.3(GLDC):c.91del (p.Ala31fs)
|
|
|
|
NM_000170.3(GLDC):c.921A>G (p.Glu307=)
|
|
|
|
NM_000170.3(GLDC):c.925G>A (p.Gly309Arg)
|
|
|
|
NM_000170.3(GLDC):c.926G>T (p.Gly309Val)
|
|
|
|
NM_000170.3(GLDC):c.930A>C (p.Val310=)
|
|
|
|
NM_000170.3(GLDC):c.931G>A (p.Asp311Asn)
|
|
|
|
NM_000170.3(GLDC):c.933C>T (p.Asp311=)
|
|
|
|
NM_000170.3(GLDC):c.937G>A (p.Ala313Thr)
|
|
|
|
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
|
|
|
|
NM_000170.3(GLDC):c.939C>T (p.Ala313=)
|
|
|
|
NM_000170.3(GLDC):c.93G>C (p.Ala31=)
|
rs2130032552
|
|
|
NM_000170.3(GLDC):c.945C>G (p.Gly315=)
|
|
|
|
NM_000170.3(GLDC):c.948C>T (p.Ser316=)
|
rs2129896227
|
|
|
NM_000170.3(GLDC):c.94_121del (p.Pro32fs)
|
|
|
|
NM_000170.3(GLDC):c.953A>G (p.Gln318Arg)
|
|
|
|
NM_000170.3(GLDC):c.954G>A (p.Gln318=)
|
rs1818693894
|
|
|
NM_000170.3(GLDC):c.957A>G (p.Arg319=)
|
|
|
|
NM_000170.3(GLDC):c.959T>C (p.Phe320Ser)
|
rs773173613
|
|
|
NM_000170.3(GLDC):c.95C>T (p.Pro32Leu)
|
|
|
|
NM_000170.3(GLDC):c.960T>C (p.Phe320=)
|
|
|
|
NM_000170.3(GLDC):c.961G>C (p.Gly321Arg)
|
rs1184125501
|
|
|
NM_000170.3(GLDC):c.962G>C (p.Gly321Ala)
|
rs1818693650
|
|
|
NM_000170.3(GLDC):c.963A>G (p.Gly321=)
|
rs1471765259
|
|
|
NM_000170.3(GLDC):c.969_970dup (p.Leu324fs)
|
rs1818693456
|
|
|
NM_000170.3(GLDC):c.96G>A (p.Pro32=)
|
rs1430526811
|
|
|
NM_000170.3(GLDC):c.975C>G (p.Gly325=)
|
rs748941890
|
|
|
NM_000170.3(GLDC):c.976T>C (p.Tyr326His)
|
|
|
|
NM_000170.3(GLDC):c.978T>C (p.Tyr326=)
|
|
|
|
NM_000170.3(GLDC):c.97C>T (p.Arg33Trp)
|
|
|
|
NM_000170.3(GLDC):c.981G>A (p.Gly327=)
|
rs1818693268
|
|
|
NM_000170.3(GLDC):c.981G>C (p.Gly327=)
|
rs1818693268
|
|
|
NM_000170.3(GLDC):c.981G>T (p.Gly327=)
|
|
|
|
NM_000170.3(GLDC):c.983G>A (p.Gly328Glu)
|
|
|
|
NM_000170.3(GLDC):c.984A>G (p.Gly328=)
|
rs2129896036
|
|
|
NM_000170.3(GLDC):c.984A>T (p.Gly328=)
|
|
|
|
NM_000170.3(GLDC):c.993A>G (p.Ala331=)
|
|
|
|
NM_000170.3(GLDC):c.996A>C (p.Ala332=)
|
|
|
|
NM_000170.3(GLDC):c.996A>G (p.Ala332=)
|
|
|
|
NM_000170.3(GLDC):c.99G>A (p.Arg33=)
|
rs1554652817
|
|
|
NM_000170.3(GLDC):c.9C>G (p.Ser3=)
|
|
|
|
NM_000170.3(GLDC):c.9C>T (p.Ser3=)
|
|
|
|
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
|
|
|
|
NM_000182.5(HADHA):c.1011G>A (p.Lys337=)
|
|
|
|
NM_000182.5(HADHA):c.1014C>G (p.Ala338=)
|
|
|
|
NM_000182.5(HADHA):c.1015T>C (p.Leu339=)
|
rs2147766676
|
|
|
NM_000182.5(HADHA):c.1023A>G (p.Gly341=)
|
|
|
|
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
|
|
|
|
NM_000182.5(HADHA):c.1032T>C (p.His344=)
|
|
|
|
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
|
|
|
|
NM_000182.5(HADHA):c.1041C>A (p.Val347=)
|
|
|
|
NM_000182.5(HADHA):c.1042C>T (p.Leu348=)
|
|
|
|
NM_000182.5(HADHA):c.1044G>A (p.Leu348=)
|
rs1574612640
|
|
|
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg)
|
rs757845324
|
|
|
NM_000182.5(HADHA):c.1050G>A (p.Lys350=)
|
rs2147766641
|
|
|
NM_000182.5(HADHA):c.1053G>A (p.Lys351=)
|
|
|
|
NM_000182.5(HADHA):c.105G>A (p.Leu35=)
|
rs772322566
|
|
|
NM_000182.5(HADHA):c.1065A>C (p.Gly355=)
|
rs1574612617
|
|
|
NM_000182.5(HADHA):c.1070del (p.Pro357fs)
|
rs1670051013
|
|
|
NM_000182.5(HADHA):c.1077G>A (p.Lys359=)
|
rs2147766596
|
|
|
NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)
|
|
|
|
NM_000182.5(HADHA):c.1085+10del
|
|
|
|
NM_000182.5(HADHA):c.1085+12T>G
|
|
|
|
NM_000182.5(HADHA):c.1085+15A>G
|
|
|
|
NM_000182.5(HADHA):c.1085+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1085+19A>G
|
|
|
|
NM_000182.5(HADHA):c.1086-2A>T
|
rs2147762411
|
|
|
NM_000182.5(HADHA):c.1086-3_1092del
|
rs1057516460
|
|
|
NM_000182.5(HADHA):c.1086-8C>T
|
|
|
|
NM_000182.5(HADHA):c.1086-9G>T
|
|
|
|
NM_000182.5(HADHA):c.110-10T>C
|
rs372046774
|
|
|
NM_000182.5(HADHA):c.110-11T>C
|
|
|
|
NM_000182.5(HADHA):c.110-12T>A
|
|
|
|
NM_000182.5(HADHA):c.110-12T>C
|
|
|
|
NM_000182.5(HADHA):c.110-13C>A
|
rs1314506688
|
|
|
NM_000182.5(HADHA):c.110-13_110-10del
|
|
|
|
NM_000182.5(HADHA):c.110-14T>A
|
|
|
|
NM_000182.5(HADHA):c.110-14T>C
|
|
|
|
NM_000182.5(HADHA):c.110-15T>G
|
|
|
|
NM_000182.5(HADHA):c.110-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1110G>C (p.Gly370=)
|
|
|
|
NM_000182.5(HADHA):c.1113G>T (p.Leu371=)
|
|
|
|
NM_000182.5(HADHA):c.1119A>G (p.Gly373=)
|
rs2147762370
|
|
|
NM_000182.5(HADHA):c.1125C>T (p.Gly375=)
|
|
|
|
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
|
|
|
|
NM_000182.5(HADHA):c.1131C>G (p.Ala377=)
|
|
|
|
NM_000182.5(HADHA):c.1137C>A (p.Val379=)
|
|
|
|
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu)
|
rs370054250
|
|
|
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter)
|
rs2147762308
|
|
|
NM_000182.5(HADHA):c.1173T>C (p.Asp391=)
|
|
|
|
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
|
|
|
|
NM_000182.5(HADHA):c.1188G>A (p.Ala396=)
|
rs781338540
|
|
|
NM_000182.5(HADHA):c.1188G>T (p.Ala396=)
|
|
|
|
NM_000182.5(HADHA):c.1194C>T (p.Asp398=)
|
|
|
|
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
|
|
|
|
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter)
|
rs2147762267
|
|
|
NM_000182.5(HADHA):c.1209del (p.Val404fs)
|
|
|
|
NM_000182.5(HADHA):c.1220+10C>A
|
|
|
|
NM_000182.5(HADHA):c.1220+10CT[3]
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+12C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>G
|
|
|
|
NM_000182.5(HADHA):c.1220+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1220+17T>C
|
|
|
|
NM_000182.5(HADHA):c.1220+1G>T
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>A
|
|
|
|
NM_000182.5(HADHA):c.1220+9G>C
|
rs539814267
|
|
|
NM_000182.5(HADHA):c.1221-11G>T
|
|
|
|
NM_000182.5(HADHA):c.1222T>C (p.Leu408=)
|
|
|
|
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
|
|
|
|
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu)
|
rs770219903
|
|
|
NM_000182.5(HADHA):c.1236G>T (p.Val412=)
|
|
|
|
NM_000182.5(HADHA):c.1242G>A (p.Lys414=)
|
rs781509327
|
|
|
NM_000182.5(HADHA):c.1248T>G (p.Ala416=)
|
rs769173885
|
|
|
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
|
|
|
|
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
|
|
|
|
NM_000182.5(HADHA):c.1266G>A (p.Arg422=)
|
|
|
|
NM_000182.5(HADHA):c.1290T>C (p.Thr430=)
|
|
|
|
NM_000182.5(HADHA):c.129T>C (p.Tyr43=)
|
rs2147785511
|
|
|
NM_000182.5(HADHA):c.129dup (p.Gly44fs)
|
rs1298883200
|
|
|
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
|
|
|
|
NM_000182.5(HADHA):c.1319dup (p.Ala441fs)
|
rs2147759662
|
|
|
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
|
|
|
|
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
|
|
|
|
NM_000182.5(HADHA):c.1350G>A (p.Glu450=)
|
|
|
|
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
|
|
|
|
NM_000182.5(HADHA):c.1365G>A (p.Lys455=)
|
rs2147759599
|
|
|
NM_000182.5(HADHA):c.1368C>T (p.His456=)
|
|
|
|
NM_000182.5(HADHA):c.1392+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>C
|
|
|
|
NM_000182.5(HADHA):c.1392+14T>G
|
|
|
|
NM_000182.5(HADHA):c.1392+15G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>A
|
|
|
|
NM_000182.5(HADHA):c.1392+18G>T
|
|
|
|
NM_000182.5(HADHA):c.1392+19T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-10dup
|
rs2147756168
|
|
|
NM_000182.5(HADHA):c.1393-13T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-16T>C
|
|
|
|
NM_000182.5(HADHA):c.1393-17dup
|
|
|
|
NM_000182.5(HADHA):c.1393-20T>A
|
|
|
|
NM_000182.5(HADHA):c.1393-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu)
|
rs1226499517
|
|
|
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
|
|
|
|
NM_000182.5(HADHA):c.1413C>T (p.Ile471=)
|
|
|
|
NM_000182.5(HADHA):c.1419C>G (p.Ala473=)
|
|
|
|
NM_000182.5(HADHA):c.141G>A (p.Gly47=)
|
rs1670826504
|
|
|
NM_000182.5(HADHA):c.1422T>C (p.Ser474=)
|
rs2147756121
|
|
|
NM_000182.5(HADHA):c.1431T>G (p.Ser477=)
|
rs758130768
|
|
|
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro)
|
rs1669713015
|
|
|
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
|
|
|
|
NM_000182.5(HADHA):c.1437C>T (p.Leu479=)
|
|
|
|
NM_000182.5(HADHA):c.1440A>C (p.Pro480=)
|
|
|
|
NM_000182.5(HADHA):c.1452C>A (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1452C>T (p.Ile484=)
|
rs758386186
|
|
|
NM_000182.5(HADHA):c.1461C>A (p.Val487=)
|
|
|
|
NM_000182.5(HADHA):c.1476G>A (p.Glu492=)
|
|
|
|
NM_000182.5(HADHA):c.1479+12A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1479+14A>T
|
|
|
|
NM_000182.5(HADHA):c.1479+17G>A
|
|
|
|
NM_000182.5(HADHA):c.1479+1G>T
|
rs1290945516
|
|
|
NM_000182.5(HADHA):c.1479+7T>A
|
rs1574605330
|
|
|
NM_000182.5(HADHA):c.1479+8C>A
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+8C>T
|
rs764385972
|
|
|
NM_000182.5(HADHA):c.1479+9_1479+25del
|
rs1325169012
|
|
|
NM_000182.5(HADHA):c.147G>A (p.Val49=)
|
rs2147785494
|
|
|
NM_000182.5(HADHA):c.1480-10C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-12T>C
|
|
|
|
NM_000182.5(HADHA):c.1480-139C>G
|
|
|
|
NM_000182.5(HADHA):c.1480-15G>T
|
|
|
|
NM_000182.5(HADHA):c.1480-1G>C
|
rs1558315590
|
|
|
NM_000182.5(HADHA):c.1480-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-3C>T
|
|
|
|
NM_000182.5(HADHA):c.1480-8C>T
|
rs1574603649
|
|
|
NM_000182.5(HADHA):c.1482G>T (p.Val494=)
|
|
|
|
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs)
|
rs2147753741
|
|
|
NM_000182.5(HADHA):c.1497C>T (p.Tyr499=)
|
rs373104835
|
|
|
NM_000182.5(HADHA):c.1503T>G (p.Ser501=)
|
|
|
|
NM_000182.5(HADHA):c.1506C>T (p.Pro502=)
|
rs1477172372
|
|
|
NM_000182.5(HADHA):c.1523del (p.Leu508fs)
|
rs754145990
|
|
|
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter)
|
rs137852769
|
|
|
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
|
|
|
|
NM_000182.5(HADHA):c.1539G>T (p.Thr513=)
|
rs755287314
|
|
|
NM_000182.5(HADHA):c.1540del (p.Thr514fs)
|
rs1478391725
|
|
|
NM_000182.5(HADHA):c.1542C>G (p.Thr514=)
|
rs374189575
|
|
|
NM_000182.5(HADHA):c.1545G>A (p.Glu515=)
|
|
|
|
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
|
|
|
|
NM_000182.5(HADHA):c.1554C>G (p.Ser518=)
|
rs765162716
|
|
|
NM_000182.5(HADHA):c.1554del (p.Asp520fs)
|
rs2147753630
|
|
|
NM_000182.5(HADHA):c.1563C>T (p.Thr521=)
|
rs1574603522
|
|
|
NM_000182.5(HADHA):c.1566T>C (p.Ser522=)
|
rs2147753617
|
|
|
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
|
|
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter)
|
rs147103714
|
|
|
NM_000182.5(HADHA):c.1581A>C (p.Ala527=)
|
rs2147753600
|
|
|
NM_000182.5(HADHA):c.1584T>C (p.Val528=)
|
rs2147753595
|
|
|
NM_000182.5(HADHA):c.1590C>T (p.Leu530=)
|
rs1250337326
|
|
|
NM_000182.5(HADHA):c.1590del (p.Lys531fs)
|
rs1057516991
|
|
|
NM_000182.5(HADHA):c.160del (p.Ile54fs)
|
|
|
|
NM_000182.5(HADHA):c.1614G>A (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1614G>T (p.Val538=)
|
|
|
|
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
|
|
|
|
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser)
|
rs2147785483
|
|
|
NM_000182.5(HADHA):c.1620+11G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+13A>G
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>A
|
|
|
|
NM_000182.5(HADHA):c.1620+19G>C
|
|
|
|
NM_000182.5(HADHA):c.1620+1del
|
rs2147753555
|
|
|
NM_000182.5(HADHA):c.1620+20_1620+21del
|
rs1064794598
|
|
|
NM_000182.5(HADHA):c.1620+2_1620+6del
|
rs764557236
|
|
|
NM_000182.5(HADHA):c.1620+7G>A
|
rs2147753540
|
|
|
NM_000182.5(HADHA):c.1620+8dup
|
|
|
|
NM_000182.5(HADHA):c.1620+9C>T
|
rs772786562
|
|
|
NM_000182.5(HADHA):c.1621-18T>C
|
rs2147753134
|
|
|
NM_000182.5(HADHA):c.1621-20C>T
|
|
|
|
NM_000182.5(HADHA):c.1621-8del
|
rs1558315187
|
|
|
NM_000182.5(HADHA):c.1623T>C (p.Asp541=)
|
|
|
|
NM_000182.5(HADHA):c.162T>C (p.Ile54=)
|
rs1558331903
|
|
|
NM_000182.5(HADHA):c.1638T>C (p.Tyr546=)
|
rs779881707
|
|
|
NM_000182.5(HADHA):c.1644del (p.Arg549fs)
|
rs1267615713
|
|
|
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
|
|
|
|
NM_000182.5(HADHA):c.1654dup (p.Ala552fs)
|
rs2147753069
|
|
|
NM_000182.5(HADHA):c.1656G>T (p.Ala552=)
|
rs541069396
|
|
|
NM_000182.5(HADHA):c.165C>T (p.Asn55=)
|
|
|
|
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys)
|
rs2147753043
|
|
|
NM_000182.5(HADHA):c.1679G>A (p.Arg560Gln)
|
rs779324271
|
|
|
NM_000182.5(HADHA):c.1683C>T (p.Ile561=)
|
|
|
|
NM_000182.5(HADHA):c.1686C>G (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1686C>T (p.Leu562=)
|
rs757813588
|
|
|
NM_000182.5(HADHA):c.1689+16C>T
|
|
|
|
NM_000182.5(HADHA):c.1689+18G>C
|
|
|
|
NM_000182.5(HADHA):c.1689+19_1689+20del
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>C
|
|
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
|
NM_000182.5(HADHA):c.1689+8T>C
|
rs576886917
|
|
|
NM_000182.5(HADHA):c.1690-16A>C
|
|
|
|
NM_000182.5(HADHA):c.1690-16A>G
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>A
|
|
|
|
NM_000182.5(HADHA):c.1690-17C>T
|
|
|
|
NM_000182.5(HADHA):c.1690-17_1690-2del
|
rs1669581856
|
|
|
NM_000182.5(HADHA):c.1690-19T>C
|
|
|
|
NM_000182.5(HADHA):c.1690-20C>G
|
|
|
|
NM_000182.5(HADHA):c.16G>A (p.Ala6Thr)
|
|
|
|
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro)
|
rs150565988
|
|
|
NM_000182.5(HADHA):c.1707G>A (p.Lys569=)
|
rs2147752219
|
|
|
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)
|
rs1553312058
|
|
|
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
|
rs1278248464
|
|
|
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
|
|
|
|
NM_000182.5(HADHA):c.1731C>T (p.Ser577=)
|
rs1308806038
|
|
|
NM_000182.5(HADHA):c.1734T>C (p.Phe578=)
|
rs1343063543
|
|
|
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000182.5(HADHA):c.1743T>C (p.Pro581=)
|
rs1669579845
|
|
|
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala)
|
rs1574602341
|
|
|
NM_000182.5(HADHA):c.1758A>G (p.Thr586=)
|
rs974621601
|
|
|
NM_000182.5(HADHA):c.1759C>T (p.Leu587=)
|
rs2147752154
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
|
NM_000182.5(HADHA):c.1761G>A (p.Leu587=)
|
|
|
|
NM_000182.5(HADHA):c.1770A>G (p.Glu590=)
|
rs2147752135
|
|
|
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly)
|
rs1574602310
|
|
|
NM_000182.5(HADHA):c.1776T>C (p.Gly592=)
|
|
|
|
NM_000182.5(HADHA):c.177A>C (p.Ser59=)
|
rs1574627624
|
|
|
NM_000182.5(HADHA):c.1785A>T (p.Val595=)
|
rs2147752107
|
|
|
NM_000182.5(HADHA):c.17C>T (p.Ala6Val)
|
|
|
|
NM_000182.5(HADHA):c.180+14T>A
|
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
|
NM_000182.5(HADHA):c.180+20G>A
|
|
|
|
NM_000182.5(HADHA):c.180+7C>G
|
|
|
|
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
|
|
|
|
NM_000182.5(HADHA):c.1807C>T (p.Leu603=)
|
|
|
|
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
|
|
|
|
NM_000182.5(HADHA):c.181-15A>G
|
|
|
|
NM_000182.5(HADHA):c.181-17A>G
|
|
|
|
NM_000182.5(HADHA):c.181-8T>A
|
rs1670779458
|
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
|
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
|
|
|
|
NM_000182.5(HADHA):c.1828C>A (p.Arg610=)
|
rs267599303
|
|
|
NM_000182.5(HADHA):c.1830G>A (p.Arg610=)
|
|
|
|
NM_000182.5(HADHA):c.1833T>C (p.Phe611=)
|
|
|
|
NM_000182.5(HADHA):c.1854G>A (p.Leu618=)
|
|
|
|
NM_000182.5(HADHA):c.1857G>C (p.Leu619=)
|
|
|
|
NM_000182.5(HADHA):c.1863G>A (p.Gln621=)
|
rs1396271017
|
|
|
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
|
|
|
|
NM_000182.5(HADHA):c.1869G>A (p.Val623=)
|
rs2147751984
|
|
|
NM_000182.5(HADHA):c.1878C>T (p.Gly626=)
|
|
|
|
NM_000182.5(HADHA):c.1885+12C>G
|
|
|
|
NM_000182.5(HADHA):c.1885+14A>G
|
|
|
|
NM_000182.5(HADHA):c.1886-13T>G
|
|
|
|
NM_000182.5(HADHA):c.1886-14C>T
|
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18del
|
rs772436809
|
|
|
NM_000182.5(HADHA):c.1886-44_1886-18dup
|
|
|
|
NM_000182.5(HADHA):c.1886-7G>A
|
rs2147750524
|
|
|
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
|
|
|
|
NM_000182.5(HADHA):c.1890T>C (p.Arg630=)
|
rs1331075824
|
|
|
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
|
|
|
|
NM_000182.5(HADHA):c.189A>C (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.189A>T (p.Thr63=)
|
rs748187062
|
|
|
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs)
|
rs1057517397
|
|
|
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
|
|
|
|
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
|
|
|
|
NM_000182.5(HADHA):c.1926T>C (p.Gly642=)
|
|
|
|
NM_000182.5(HADHA):c.192G>A (p.Leu64=)
|
rs2147784458
|
|
|
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
|
|
|
|
NM_000182.5(HADHA):c.1932G>A (p.Lys644=)
|
rs765574028
|
|
|
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
|
|
|
|
NM_000182.5(HADHA):c.1962T>C (p.Ser654=)
|
rs1669532360
|
|
|
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)
|
rs779113356
|
|
|
NM_000182.5(HADHA):c.1971G>A (p.Ala657=)
|
rs570854524
|
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
|
NM_000182.5(HADHA):c.1983G>A (p.Leu661=)
|
rs2147750371
|
|
|
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter)
|
rs757671025
|
|
|
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe)
|
rs1669530829
|
|
|
NM_000182.5(HADHA):c.2000+1G>A
|
|
|
|
NM_000182.5(HADHA):c.2000+1G>C
|
rs1167218743
|
|
|
NM_000182.5(HADHA):c.2000+5G>C
|
|
|
|
NM_000182.5(HADHA):c.2000+9G>T
|
rs200802583
|
|
|
NM_000182.5(HADHA):c.2001-10C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-10C>T
|
rs1463681982
|
|
|
NM_000182.5(HADHA):c.2001-13T>C
|
|
|
|
NM_000182.5(HADHA):c.2001-14C>T
|
|
|
|
NM_000182.5(HADHA):c.2001-16C>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18A>G
|
|
|
|
NM_000182.5(HADHA):c.2001-18_2001-16dup
|
|
|
|
NM_000182.5(HADHA):c.2001-4G>A
|
|
|
|
NM_000182.5(HADHA):c.2004A>T (p.Ser668=)
|
|
|
|
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala)
|
rs1669507749
|
|
|
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
|
|
|
|
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
|
|
|
|
NM_000182.5(HADHA):c.2019C>T (p.Ile673=)
|
|
|
|
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter)
|
rs2147749450
|
|
|
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
|
|
|
|
NM_000182.5(HADHA):c.2027G>A (p.Arg676His)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu)
|
rs1204190984
|
|
|
NM_000182.5(HADHA):c.202C>T (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
|
|
|
|
NM_000182.5(HADHA):c.204A>G (p.Leu68=)
|
|
|
|
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
|
|
|
|
NM_000182.5(HADHA):c.2073G>A (p.Glu691=)
|
rs2147749350
|
|
|
NM_000182.5(HADHA):c.2076G>T (p.Gly692=)
|
|
|
|
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
|
|
|
|
NM_000182.5(HADHA):c.2085C>T (p.Ala695=)
|
|
|
|
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile)
|
rs2147749338
|
|
|
NM_000182.5(HADHA):c.2091T>G (p.Pro697=)
|
rs2147749333
|
|
|
NM_000182.5(HADHA):c.2094A>G (p.Ala698=)
|
rs757938383
|
|
|
NM_000182.5(HADHA):c.2100A>G (p.Gly700=)
|
|
|
|
NM_000182.5(HADHA):c.2109A>G (p.Gly703=)
|
|
|
|
NM_000182.5(HADHA):c.2127C>G (p.Gly709=)
|
|
|
|
NM_000182.5(HADHA):c.2132dup (p.Pro712fs)
|
rs1574600309
|
|
|
NM_000182.5(HADHA):c.213G>A (p.Glu71=)
|
rs532314552
|
|
|
NM_000182.5(HADHA):c.2146+12A>G
|
|
|
|
NM_000182.5(HADHA):c.2146+17G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>A
|
|
|
|
NM_000182.5(HADHA):c.2146+19G>C
|
|
|
|
NM_000182.5(HADHA):c.2146+1G>A
|
rs794727219
|
|
|
NM_000182.5(HADHA):c.2146+20A>C
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>A
|
|
|
|
NM_000182.5(HADHA):c.2146+9C>G
|
|
|
|
NM_000182.5(HADHA):c.2147-10C>A
|
|
|
|
NM_000182.5(HADHA):c.2147-12_2147-11del
|
|
|
|
NM_000182.5(HADHA):c.2147-2A>G
|
|
|
|
NM_000182.5(HADHA):c.2147-5T>C
|
rs2147748983
|
|
|
NM_000182.5(HADHA):c.2147-7_2147-6insGA
|
rs767103938
|
|
|
NM_000182.5(HADHA):c.2147-8C>T
|
|
|
|
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
|
|
|
|
NM_000182.5(HADHA):c.216C>T (p.Phe72=)
|
rs1670777856
|
|
|
NM_000182.5(HADHA):c.2172T>C (p.Tyr724=)
|
|
|
|
NM_000182.5(HADHA):c.2178C>T (p.Ala726=)
|
|
|
|
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
|
|
|
|
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
|
|
|
|
NM_000182.5(HADHA):c.2193C>T (p.Asp731=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
|
|
|
|
NM_000182.5(HADHA):c.2196G>A (p.Arg732=)
|
|
|
|
NM_000182.5(HADHA):c.2198T>C (p.Leu733Pro)
|
rs2147748812
|
|
|
NM_000182.5(HADHA):c.2199C>T (p.Leu733=)
|
|
|
|
NM_000182.5(HADHA):c.2202G>A (p.Lys734=)
|
rs2147748806
|
|
|
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter)
|
rs774114061
|
|
|
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
|
|
|
|
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser)
|
rs141164185
|
|
|
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=)
|
rs142120825
|
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
|
NM_000182.5(HADHA):c.2229_2233dup (p.Thr745fs)
|
|
|
|
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
|
|
|
|
NM_000182.5(HADHA):c.2235C>T (p.Thr745=)
|
|
|
|
NM_000182.5(HADHA):c.2241C>T (p.Cys747=)
|
|
|
|
NM_000182.5(HADHA):c.2259T>C (p.His753=)
|
rs1669489360
|
|
|
NM_000182.5(HADHA):c.2262T>C (p.Ala754=)
|
rs1423314926
|
|
|
NM_000182.5(HADHA):c.2265C>T (p.Asn755=)
|
rs2147748705
|
|
|
NM_000182.5(HADHA):c.2268C>T (p.Ser756=)
|
|
|
|
NM_000182.5(HADHA):c.2283C>T (p.Phe761=)
|
|
|
|
NM_000182.5(HADHA):c.2286C>T (p.Tyr762=)
|
rs2147748660
|
|
|
NM_000182.5(HADHA):c.2289G>A (p.Gln763=)
|
|
|
|
NM_000182.5(HADHA):c.2291G>A (p.Ter764=)
|
|
|
|
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
|
|
|
|
NM_000182.5(HADHA):c.238del (p.Trp80fs)
|
|
|
|
NM_000182.5(HADHA):c.243T>C (p.Ala81=)
|
|
|
|
NM_000182.5(HADHA):c.24C>A (p.Gly8=)
|
rs942208244
|
|
|
NM_000182.5(HADHA):c.258A>G (p.Arg86=)
|
|
|
|
NM_000182.5(HADHA):c.264C>G (p.Ala88=)
|
|
|
|
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
|
|
|
|
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg)
|
rs2147784395
|
|
|
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)
|
rs781205883
|
|
|
NM_000182.5(HADHA):c.276A>G (p.Ser92=)
|
|
|
|
NM_000182.5(HADHA):c.279A>G (p.Ser93=)
|
|
|
|
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
|
|
|
|
NM_000182.5(HADHA):c.291C>T (p.Cys97=)
|
|
|
|
NM_000182.5(HADHA):c.294del (p.Phe98fs)
|
rs2147784383
|
|
|
NM_000182.5(HADHA):c.297T>C (p.Ile99=)
|
|
|
|
NM_000182.5(HADHA):c.300A>G (p.Ala100=)
|
rs1335136331
|
|
|
NM_000182.5(HADHA):c.303T>G (p.Gly101=)
|
rs1670773890
|
|
|
NM_000182.5(HADHA):c.306T>C (p.Ala102=)
|
|
|
|
NM_000182.5(HADHA):c.30C>A (p.Leu10=)
|
|
|
|
NM_000182.5(HADHA):c.30C>G (p.Leu10=)
|
rs1221423725
|
|
|
NM_000182.5(HADHA):c.310dup (p.Ile104fs)
|
rs1670773680
|
|
|
NM_000182.5(HADHA):c.314+11G>A
|
|
|
|
NM_000182.5(HADHA):c.314+12G>T
|
|
|
|
NM_000182.5(HADHA):c.314+14A>C
|
|
|
|
NM_000182.5(HADHA):c.314+15A>G
|
|
|
|
NM_000182.5(HADHA):c.314+17T>C
|
|
|
|
NM_000182.5(HADHA):c.314+18dup
|
rs2147784338
|
|
|
NM_000182.5(HADHA):c.314+19G>A
|
|
|
|
NM_000182.5(HADHA):c.314+1G>C
|
|
|
|
NM_000182.5(HADHA):c.314+2T>G
|
|
|
|
NM_000182.5(HADHA):c.314+8T>A
|
|
|
|
NM_000182.5(HADHA):c.315-16T>A
|
|
|
|
NM_000182.5(HADHA):c.315-2A>T
|
|
|
|
NM_000182.5(HADHA):c.327T>C (p.Ala109=)
|
|
|
|
NM_000182.5(HADHA):c.336C>A (p.Thr112=)
|
|
|
|
NM_000182.5(HADHA):c.33C>T (p.Ser11=)
|
rs1574631841
|
|
|
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter)
|
rs1670695733
|
|
|
NM_000182.5(HADHA):c.345A>G (p.Glu115=)
|
|
|
|
NM_000182.5(HADHA):c.348A>G (p.Val116=)
|
rs2147782544
|
|
|
NM_000182.5(HADHA):c.352_353del (p.Gln118fs)
|
rs1670695370
|
|
|
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
|
|
|
|
NM_000182.5(HADHA):c.36C>A (p.Arg12=)
|
rs2147789735
|
|
|
NM_000182.5(HADHA):c.384G>A (p.Glu128=)
|
|
|
|
NM_000182.5(HADHA):c.387_388del (p.Lys129fs)
|
rs780350631
|
|
|
NM_000182.5(HADHA):c.402A>G (p.Thr134=)
|
|
|
|
NM_000182.5(HADHA):c.411T>C (p.Ile137=)
|
rs1574625100
|
|
|
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe)
|
rs758107197
|
|
|
NM_000182.5(HADHA):c.432C>A (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.432C>G (p.Ser144=)
|
rs2147782494
|
|
|
NM_000182.5(HADHA):c.453+12C>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>G
|
|
|
|
NM_000182.5(HADHA):c.453+14A>T
|
|
|
|
NM_000182.5(HADHA):c.453+1G>A
|
rs1057516417
|
|
|
NM_000182.5(HADHA):c.453+20_453+22del
|
|
|
|
NM_000182.5(HADHA):c.453+9A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12A>G
|
|
|
|
NM_000182.5(HADHA):c.454-12_454-11del
|
|
|
|
NM_000182.5(HADHA):c.454-13C>A
|
|
|
|
NM_000182.5(HADHA):c.454-17C>G
|
|
|
|
NM_000182.5(HADHA):c.454-5C>T
|
|
|
|
NM_000182.5(HADHA):c.454-8G>T
|
rs1175400236
|
|
|
NM_000182.5(HADHA):c.45C>T (p.Ala15=)
|
|
|
|
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr)
|
rs1670643151
|
|
|
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
|
|
|
|
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
|
|
|
|
NM_000182.5(HADHA):c.501A>G (p.Thr167=)
|
|
|
|
NM_000182.5(HADHA):c.507A>G (p.Leu169=)
|
|
|
|
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_000182.5(HADHA):c.513C>T (p.Thr171=)
|
|
|
|
NM_000182.5(HADHA):c.540A>G (p.Pro180=)
|
|
|
|
NM_000182.5(HADHA):c.546A>G (p.Ala182=)
|
|
|
|
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter)
|
rs2147781182
|
|
|
NM_000182.5(HADHA):c.558A>G (p.Gln186=)
|
|
|
|
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
|
|
|
|
NM_000182.5(HADHA):c.564G>A (p.Leu188=)
|
rs2147781176
|
|
|
NM_000182.5(HADHA):c.567C>G (p.Pro189=)
|
|
|
|
NM_000182.5(HADHA):c.573+15C>T
|
|
|
|
NM_000182.5(HADHA):c.573+1G>A
|
|
|
|
NM_000182.5(HADHA):c.573+7C>G
|
|
|
|
NM_000182.5(HADHA):c.573+8T>C
|
rs2147781158
|
|
|
NM_000182.5(HADHA):c.573G>A (p.Met191Ile)
|
rs2147781167
|
|
|
NM_000182.5(HADHA):c.574-13G>A
|
|
|
|
NM_000182.5(HADHA):c.574-13G>T
|
|
|
|
NM_000182.5(HADHA):c.574-17C>T
|
|
|
|
NM_000182.5(HADHA):c.574-2A>G
|
rs1670591013
|
|
|
NM_000182.5(HADHA):c.574-4T>G
|
|
|
|
NM_000182.5(HADHA):c.574-4dup
|
rs763636903
|
|
|
NM_000182.5(HADHA):c.574-5G>A
|
rs1248416510
|
|
|
NM_000182.5(HADHA):c.574-6T>C
|
|
|
|
NM_000182.5(HADHA):c.574-9G>T
|
|
|
|
NM_000182.5(HADHA):c.57C>G (p.Leu19=)
|
|
|
|
NM_000182.5(HADHA):c.592T>C (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.594G>A (p.Leu198=)
|
|
|
|
NM_000182.5(HADHA):c.609T>G (p.Thr203=)
|
rs2147779949
|
|
|
NM_000182.5(HADHA):c.612T>A (p.Gly204=)
|
rs2147779944
|
|
|
NM_000182.5(HADHA):c.612dup (p.Arg205Ter)
|
rs1574623071
|
|
|
NM_000182.5(HADHA):c.621T>C (p.Ile207=)
|
|
|
|
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
|
|
|
|
NM_000182.5(HADHA):c.624T>C (p.Arg208=)
|
rs2147779940
|
|
|
NM_000182.5(HADHA):c.627A>G (p.Ala209=)
|
|
|
|
NM_000182.5(HADHA):c.633G>A (p.Arg211=)
|
rs2147779928
|
|
|
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
|
|
|
|
NM_000182.5(HADHA):c.63C>T (p.Ser21=)
|
rs2147789695
|
|
|
NM_000182.5(HADHA):c.651G>T (p.Leu217=)
|
|
|
|
NM_000182.5(HADHA):c.654T>C (p.Val218=)
|
|
|
|
NM_000182.5(HADHA):c.661C>T (p.Leu221=)
|
rs1574623021
|
|
|
NM_000182.5(HADHA):c.669A>G (p.Glu223=)
|
rs748977241
|
|
|
NM_000182.5(HADHA):c.67+13C>G
|
|
|
|
NM_000182.5(HADHA):c.67+14G>A
|
|
|
|
NM_000182.5(HADHA):c.67+16G>C
|
|
|
|
NM_000182.5(HADHA):c.67+18G>A
|
|
|
|
NM_000182.5(HADHA):c.67+18G>T
|
|
|
|
NM_000182.5(HADHA):c.67+9T>C
|
|
|
|
NM_000182.5(HADHA):c.676+1G>A
|
rs1670587668
|
|
|
NM_000182.5(HADHA):c.677-16G>T
|
|
|
|
NM_000182.5(HADHA):c.677-17T>A
|
|
|
|
NM_000182.5(HADHA):c.677-20T>C
|
|
|
|
NM_000182.5(HADHA):c.677-2A>G
|
|
|
|
NM_000182.5(HADHA):c.677-6T>C
|
rs2147770003
|
|
|
NM_000182.5(HADHA):c.677-9T>C
|
rs2147770005
|
|
|
NM_000182.5(HADHA):c.678A>C (p.Gly226=)
|
|
|
|
NM_000182.5(HADHA):c.68-12C>G
|
|
|
|
NM_000182.5(HADHA):c.68-12C>T
|
|
|
|
NM_000182.5(HADHA):c.68-14G>A
|
|
|
|
NM_000182.5(HADHA):c.68-16A>C
|
|
|
|
NM_000182.5(HADHA):c.68-18A>T
|
|
|
|
NM_000182.5(HADHA):c.68-4A>G
|
|
|
|
NM_000182.5(HADHA):c.68-7C>T
|
rs1670832440
|
|
|
NM_000182.5(HADHA):c.687A>G (p.Leu229=)
|
rs2147769994
|
|
|
NM_000182.5(HADHA):c.690del (p.Lys230fs)
|
rs2147769993
|
|
|
NM_000182.5(HADHA):c.693T>C (p.Pro231=)
|
|
|
|
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs)
|
rs1456890163
|
|
|
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)
|
rs786204607
|
|
|
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
|
|
|
|
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
|
|
|
|
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
|
|
|
|
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
|
|
|
|
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
|
|
|
|
NM_000182.5(HADHA):c.72T>C (p.Tyr24=)
|
|
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
|
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
|
|
|
|
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
|
|
|
|
NM_000182.5(HADHA):c.743C>T (p.Ala248Val)
|
rs199688741
|
|
|
NM_000182.5(HADHA):c.744C>G (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.744C>T (p.Ala248=)
|
|
|
|
NM_000182.5(HADHA):c.750A>G (p.Gly250=)
|
|
|
|
NM_000182.5(HADHA):c.759T>C (p.Asp253=)
|
|
|
|
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
|
|
|
|
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn)
|
rs1490396477
|
|
|
NM_000182.5(HADHA):c.774A>G (p.Pro258=)
|
rs2147769914
|
|
|
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
|
|
|
|
NM_000182.5(HADHA):c.790T>C (p.Leu264=)
|
|
|
|
NM_000182.5(HADHA):c.799+10A>C
|
rs2147769884
|
|
|
NM_000182.5(HADHA):c.799+13G>A
|
|
|
|
NM_000182.5(HADHA):c.799+18dup
|
|
|
|
NM_000182.5(HADHA):c.799+1G>A
|
|
|
|
NM_000182.5(HADHA):c.799+5G>A
|
|
|
|
NM_000182.5(HADHA):c.799+7A>G
|
|
|
|
NM_000182.5(HADHA):c.799+8T>A
|
rs1451443100
|
|
|
NM_000182.5(HADHA):c.800-16del
|
|
|
|
NM_000182.5(HADHA):c.800-20A>G
|
|
|
|
NM_000182.5(HADHA):c.800-9A>G
|
rs2147769623
|
|
|
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
|
|
|
|
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr)
|
rs1574615066
|
|
|
NM_000182.5(HADHA):c.80G>A (p.Arg27His)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.80G>T (p.Arg27Leu)
|
rs200145855
|
|
|
NM_000182.5(HADHA):c.815C>A (p.Ala272Asp)
|
|
|
|
NM_000182.5(HADHA):c.81C>T (p.Arg27=)
|
|
|
|
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
|
|
|
|
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)
|
rs774235292
|
|
|
NM_000182.5(HADHA):c.846T>A (p.Val282=)
|
rs1574615034
|
|
|
NM_000182.5(HADHA):c.849C>T (p.Tyr283=)
|
|
|
|
NM_000182.5(HADHA):c.870G>A (p.Val290=)
|
rs771022089
|
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
|
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
|
|
|
|
NM_000182.5(HADHA):c.879G>A (p.Gln293=)
|
|
|
|
NM_000182.5(HADHA):c.882T>A (p.Thr294=)
|
|
|
|
NM_000182.5(HADHA):c.882T>C (p.Thr294=)
|
rs769959246
|
|
|
NM_000182.5(HADHA):c.891T>A (p.Leu297=)
|
rs748396892
|
|
|
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
|
|
|
|
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
|
|
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
|
NM_000182.5(HADHA):c.918+15A>G
|
|
|
|
NM_000182.5(HADHA):c.918+16T>G
|
|
|
|
NM_000182.5(HADHA):c.918+20C>T
|
|
|
|
NM_000182.5(HADHA):c.919-10T>C
|
rs2147768564
|
|
|
NM_000182.5(HADHA):c.919-11A>G
|
|
|
|
NM_000182.5(HADHA):c.919-15T>G
|
|
|
|
NM_000182.5(HADHA):c.919-7T>G
|
rs2147768563
|
|
|
NM_000182.5(HADHA):c.930T>C (p.Thr310=)
|
rs1670129457
|
|
|
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
|
|
|
|
NM_000182.5(HADHA):c.93G>A (p.Gly31=)
|
rs2147785589
|
|
|
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
|
|
|
|
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
|
|
|
|
NM_000182.5(HADHA):c.954C>A (p.Ala318=)
|
|
|
|
NM_000182.5(HADHA):c.957T>C (p.Gly319=)
|
|
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
|
NM_000182.5(HADHA):c.975+12del
|
|
|
|
NM_000182.5(HADHA):c.975+17dup
|
|
|
|
NM_000182.5(HADHA):c.975+20A>G
|
|
|
|
NM_000182.5(HADHA):c.975G>A (p.Gln325=)
|
rs751970693
|
|
|
NM_000182.5(HADHA):c.976-10T>A
|
|
|
|
NM_000182.5(HADHA):c.976-12T>C
|
|
|
|
NM_000182.5(HADHA):c.976-18T>C
|
|
|
|
NM_000182.5(HADHA):c.976-19A>C
|
rs2147766738
|
|
|
NM_000182.5(HADHA):c.976-1G>T
|
rs2147766716
|
|
|
NM_000182.5(HADHA):c.976-20C>T
|
|
|
|
NM_000182.5(HADHA):c.984A>G (p.Gly328=)
|
|
|
|
NM_000182.5(HADHA):c.990T>C (p.Leu330=)
|
rs1433589314
|
|
|
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
|
|
|
|
NM_000182.5(HADHA):c.995T>G (p.Met332Arg)
|
rs752285354
|
|
|
NM_000182.5(HADHA):c.999C>A (p.Thr333=)
|
rs2147766687
|
|
|
NM_000187.3(HGD):c.651_652delGG
|
rs786204662
|
|
|
NM_000187.4(HGD):c.1006+2T>A
|
rs1320184173
|
|
|
NM_000187.4(HGD):c.1006+9C>T
|
|
|
|
NM_000187.4(HGD):c.1007-18C>T
|
|
|
|
NM_000187.4(HGD):c.1007-3del
|
rs1261269370
|
|
|
NM_000187.4(HGD):c.100del (p.Val34fs)
|
|
|
|
NM_000187.4(HGD):c.1039C>T (p.Arg347Ter)
|
rs975005146
|
|
|
NM_000187.4(HGD):c.1040G>A (p.Arg347Gln)
|
|
|
|
NM_000187.4(HGD):c.105C>A (p.Cys35Ter)
|
|
|
|
NM_000187.4(HGD):c.1061A>C (p.Gln354Pro)
|
|
|
|
NM_000187.4(HGD):c.1061A>G (p.Gln354Arg)
|
|
|
|
NM_000187.4(HGD):c.1068G>A (p.Gly356=)
|
rs1940648400
|
|
|
NM_000187.4(HGD):c.1076C>T (p.Pro359Leu)
|
|
|
|
NM_000187.4(HGD):c.1080G>C (p.Gly360=)
|
rs752713602
|
|
|
NM_000187.4(HGD):c.1097G>A (p.Ser366Asn)
|
|
|
|
NM_000187.4(HGD):c.1098C>T (p.Ser366=)
|
|
|
|
NM_000187.4(HGD):c.109T>G (p.Tyr37Asp)
|
|
|
|
NM_000187.4(HGD):c.1110C>T (p.Pro370=)
|
|
|
|
NM_000187.4(HGD):c.1111del (p.His371fs)
|
rs397515516
|
|
|
NM_000187.4(HGD):c.1112dup (p.His371fs)
|
|
|
|
NM_000187.4(HGD):c.1114G>A (p.Gly372Arg)
|
rs1940645842
|
|
|
NM_000187.4(HGD):c.1120G>C (p.Asp374His)
|
rs981454067
|
|
|
NM_000187.4(HGD):c.1131C>A (p.Cys377Ter)
|
|
|
|
NM_000187.4(HGD):c.1157_1160del (p.Leu386fs)
|
|
|
|
NM_000187.4(HGD):c.1162C>T (p.Pro388Ser)
|
|
|
|
NM_000187.4(HGD):c.1185del (p.Met396fs)
|
rs2107489196
|
|
|
NM_000187.4(HGD):c.1188+1G>T
|
rs760206323
|
|
|
NM_000187.4(HGD):c.1188+2T>A
|
|
|
|
NM_000187.4(HGD):c.1188+7A>T
|
|
|
|
NM_000187.4(HGD):c.1188+8T>C
|
rs1940642048
|
|
|
NM_000187.4(HGD):c.1189-14G>A
|
|
|
|
NM_000187.4(HGD):c.1189-20C>G
|
|
|
|
NM_000187.4(HGD):c.1189-8T>A
|
rs2107483848
|
|
|
NM_000187.4(HGD):c.1191A>G (p.Ala397=)
|
|
|
|
NM_000187.4(HGD):c.11T>C (p.Leu4Ser)
|
rs786204422
|
|
|
NM_000187.4(HGD):c.1201G>C (p.Glu401Gln)
|
rs767159114
|
|
|
NM_000187.4(HGD):c.1230G>A (p.Lys410=)
|
|
|
|
NM_000187.4(HGD):c.1242G>A (p.Lys414=)
|
|
|
|
NM_000187.4(HGD):c.1245del (p.Ser416fs)
|
rs2107483736
|
|
|
NM_000187.4(HGD):c.1248C>T (p.Ser416=)
|
rs2107483728
|
|
|
NM_000187.4(HGD):c.1249A>C (p.Arg417=)
|
|
|
|
NM_000187.4(HGD):c.1269C>A (p.Tyr423Ter)
|
rs1186509068
|
|
|
NM_000187.4(HGD):c.1275G>A (p.Lys425=)
|
|
|
|
NM_000187.4(HGD):c.1287A>T (p.Pro429=)
|
rs2107483639
|
|
|
NM_000187.4(HGD):c.1288del (p.Leu430fs)
|
rs2107483632
|
|
|
NM_000187.4(HGD):c.1290C>T (p.Leu430=)
|
rs2107483622
|
|
|
NM_000187.4(HGD):c.1290_1300del (p.Lys431fs)
|
rs1553715351
|
|
|
NM_000187.4(HGD):c.1299C>T (p.His433=)
|
rs2107483607
|
|
|
NM_000187.4(HGD):c.1314C>T (p.Ser438=)
|
|
|
|
NM_000187.4(HGD):c.1320C>T (p.Asn440=)
|
|
|
|
NM_000187.4(HGD):c.132C>T (p.Leu44=)
|
rs1413985635
|
|
|
NM_000187.4(HGD):c.1332T>C (p.Pro444=)
|
|
|
|
NM_000187.4(HGD):c.133del (p.Ser45fs)
|
|
|
|
NM_000187.4(HGD):c.15+15G>A
|
|
|
|
NM_000187.4(HGD):c.15+16A>T
|
|
|
|
NM_000187.4(HGD):c.15+1G>A
|
rs552207335
|
|
|
NM_000187.4(HGD):c.15+8del
|
rs771784891
|
|
|
NM_000187.4(HGD):c.164_166del (p.Thr55del)
|
rs1708093744
|
|
|
NM_000187.4(HGD):c.165C>T (p.Thr55=)
|
|
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
|
NM_000187.4(HGD):c.176+13G>C
|
|
|
|
NM_000187.4(HGD):c.176+14A>T
|
|
|
|
NM_000187.4(HGD):c.177-14_177-11del
|
|
|
|
NM_000187.4(HGD):c.177-16A>G
|
|
|
|
NM_000187.4(HGD):c.177-17T>C
|
|
|
|
NM_000187.4(HGD):c.177-18G>C
|
|
|
|
NM_000187.4(HGD):c.177-19T>C
|
|
|
|
NM_000187.4(HGD):c.177-1G>T
|
|
|
|
NM_000187.4(HGD):c.177-4C>T
|
|
|
|
NM_000187.4(HGD):c.177-9T>C
|
rs2107548928
|
|
|
NM_000187.4(HGD):c.179G>A (p.Trp60Ter)
|
rs1057516467
|
|
|
NM_000187.4(HGD):c.186T>C (p.Tyr62=)
|
|
|
|
NM_000187.4(HGD):c.186T>G (p.Tyr62Ter)
|
rs2107548853
|
|
|
NM_000187.4(HGD):c.18C>T (p.Tyr6=)
|
rs769728875
|
|
|
NM_000187.4(HGD):c.198T>C (p.Pro66=)
|
rs2107548808
|
|
|
NM_000187.4(HGD):c.210C>T (p.His70=)
|
|
|
|
NM_000187.4(HGD):c.216C>T (p.Pro72=)
|
|
|
|
NM_000187.4(HGD):c.225C>T (p.Ser75=)
|
rs2107548752
|
|
|
NM_000187.4(HGD):c.228T>C (p.Ile76=)
|
rs2107548724
|
|
|
NM_000187.4(HGD):c.237C>T (p.Gly79=)
|
|
|
|
NM_000187.4(HGD):c.237_240del (p.Gln80fs)
|
|
|
|
NM_000187.4(HGD):c.243C>T (p.Val81=)
|
rs377043265
|
|
|
NM_000187.4(HGD):c.255G>A (p.Trp85Ter)
|
|
|
|
NM_000187.4(HGD):c.278A>G (p.Asn93Ser)
|
|
|
|
NM_000187.4(HGD):c.279C>T (p.Asn93=)
|
|
|
|
NM_000187.4(HGD):c.282+11C>T
|
|
|
|
NM_000187.4(HGD):c.282+14G>A
|
|
|
|
NM_000187.4(HGD):c.282+5C>A
|
|
|
|
NM_000187.4(HGD):c.283-12dup
|
rs777429123
|
|
|
NM_000187.4(HGD):c.283-13A>T
|
|
|
|
NM_000187.4(HGD):c.283-18T>A
|
|
|
|
NM_000187.4(HGD):c.283-18T>C
|
|
|
|
NM_000187.4(HGD):c.283-1G>A
|
rs2107522179
|
|
|
NM_000187.4(HGD):c.283-20T>C
|
|
|
|
NM_000187.4(HGD):c.283-5del
|
rs777429123
|
|
|
NM_000187.4(HGD):c.33G>C (p.Gly11=)
|
rs886415775
|
|
|
NM_000187.4(HGD):c.342+15T>A
|
|
|
|
NM_000187.4(HGD):c.342+16_342+17del
|
|
|
|
NM_000187.4(HGD):c.342+19C>T
|
|
|
|
NM_000187.4(HGD):c.342+20A>G
|
|
|
|
NM_000187.4(HGD):c.342+3A>C
|
|
|
|
NM_000187.4(HGD):c.342+9G>T
|
rs1941376798
|
|
|
NM_000187.4(HGD):c.343-11G>A
|
rs143223637
|
|
|
NM_000187.4(HGD):c.343-11G>T
|
|
|
|
NM_000187.4(HGD):c.343-11del
|
|
|
|
NM_000187.4(HGD):c.343-20_343-19del
|
|
|
|
NM_000187.4(HGD):c.343-6T>A
|
rs753344566
|
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
|
NM_000187.4(HGD):c.368G>A (p.Gly123Glu)
|
rs374473331
|
|
|
NM_000187.4(HGD):c.375A>T (p.Ile125=)
|
|
|
|
NM_000187.4(HGD):c.378del (p.Lys126fs)
|
|
|
|
NM_000187.4(HGD):c.398del (p.Ile133fs)
|
|
|
|
NM_000187.4(HGD):c.3G>C (p.Met1Ile)
|
rs1057516355
|
|
|
NM_000187.4(HGD):c.401A>G (p.His134Arg)
|
|
|
|
NM_000187.4(HGD):c.413_434+35del
|
|
|
|
NM_000187.4(HGD):c.420C>T (p.Thr140=)
|
|
|
|
NM_000187.4(HGD):c.434+12A>G
|
|
|
|
NM_000187.4(HGD):c.434+13G>C
|
|
|
|
NM_000187.4(HGD):c.434+14T>C
|
|
|
|
NM_000187.4(HGD):c.434+19G>A
|
|
|
|
NM_000187.4(HGD):c.434+19G>T
|
|
|
|
NM_000187.4(HGD):c.434+1del
|
|
|
|
NM_000187.4(HGD):c.434+20G>A
|
|
|
|
NM_000187.4(HGD):c.435-1G>C
|
|
|
|
NM_000187.4(HGD):c.43T>C (p.Ser15Pro)
|
rs2107557717
|
|
|
NM_000187.4(HGD):c.447T>A (p.Asn149Lys)
|
rs2107513499
|
|
|
NM_000187.4(HGD):c.448del (p.Ser150fs)
|
|
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
|
NM_000187.4(HGD):c.469+15C>G
|
|
|
|
NM_000187.4(HGD):c.469+1G>C
|
rs1260545974
|
|
|
NM_000187.4(HGD):c.470-11T>G
|
|
|
|
NM_000187.4(HGD):c.470-18C>T
|
|
|
|
NM_000187.4(HGD):c.470-5G>A
|
rs980173157
|
|
|
NM_000187.4(HGD):c.470-6del
|
|
|
|
NM_000187.4(HGD):c.474G>A (p.Pro158=)
|
rs2293734
|
|
|
NM_000187.4(HGD):c.474G>T (p.Pro158=)
|
rs2293734
|
|
|
NM_000187.4(HGD):c.480A>G (p.Lys160=)
|
|
|
|
NM_000187.4(HGD):c.482G>A (p.Gly161Glu)
|
|
|
|
NM_000187.4(HGD):c.499A>G (p.Thr167Ala)
|
|
|
|
NM_000187.4(HGD):c.502G>T (p.Glu168Ter)
|
rs375283568
|
|
|
NM_000187.4(HGD):c.518T>A (p.Leu173His)
|
|
|
|
NM_000187.4(HGD):c.525G>A (p.Gln175=)
|
|
|
|
NM_000187.4(HGD):c.541G>A (p.Val181Ile)
|
|
|
|
NM_000187.4(HGD):c.549+1G>T
|
|
|
|
NM_000187.4(HGD):c.550-7A>C
|
|
|
|
NM_000187.4(HGD):c.550-9C>A
|
|
|
|
NM_000187.4(HGD):c.559C>A (p.Arg187=)
|
rs756255206
|
|
|
NM_000187.4(HGD):c.57T>G (p.Pro19=)
|
|
|
|
NM_000187.4(HGD):c.583G>T (p.Glu195Ter)
|
rs1184695718
|
|
|
NM_000187.4(HGD):c.588_597del (p.Arg197fs)
|
|
|
|
NM_000187.4(HGD):c.588del (p.Arg197fs)
|
|
|
|
NM_000187.4(HGD):c.624T>C (p.Phe208=)
|
rs1576295648
|
|
|
NM_000187.4(HGD):c.633T>C (p.Pro211=)
|
|
|
|
NM_000187.4(HGD):c.649+13T>C
|
|
|
|
NM_000187.4(HGD):c.649+13T>G
|
|
|
|
NM_000187.4(HGD):c.649+18G>A
|
|
|
|
NM_000187.4(HGD):c.650-13T>G
|
|
|
|
NM_000187.4(HGD):c.652del
|
rs786204662
|
|
|
NM_000187.4(HGD):c.660C>G (p.Gly220=)
|
|
|
|
NM_000187.4(HGD):c.663G>A (p.Leu221=)
|
rs755921083
|
|
|
NM_000187.4(HGD):c.666C>G (p.Ala222=)
|
|
|
|
NM_000187.4(HGD):c.672T>C (p.Pro224=)
|
|
|
|
NM_000187.4(HGD):c.673del (p.Arg225fs)
|
|
|
|
NM_000187.4(HGD):c.674G>C (p.Arg225Pro)
|
|
|
|
NM_000187.4(HGD):c.680T>C (p.Phe227Ser)
|
rs1941093400
|
|
|
NM_000187.4(HGD):c.684G>A (p.Leu228=)
|
|
|
|
NM_000187.4(HGD):c.699G>A (p.Trp233Ter)
|
|
|
|
NM_000187.4(HGD):c.702T>G (p.Tyr234Ter)
|
|
|
|
NM_000187.4(HGD):c.714A>G (p.Gln238=)
|
rs1194507329
|
|
|
NM_000187.4(HGD):c.717A>T (p.Val239=)
|
|
|
|
NM_000187.4(HGD):c.735C>T (p.Val245=)
|
|
|
|
NM_000187.4(HGD):c.756G>A (p.Lys252=)
|
|
|
|
NM_000187.4(HGD):c.774+17G>C
|
|
|
|
NM_000187.4(HGD):c.774+20A>C
|
|
|
|
NM_000187.4(HGD):c.774+7T>C
|
|
|
|
NM_000187.4(HGD):c.775-15G>A
|
|
|
|
NM_000187.4(HGD):c.775-15G>T
|
|
|
|
NM_000187.4(HGD):c.775-1G>A
|
rs2107502859
|
|
|
NM_000187.4(HGD):c.792T>C (p.Asn264=)
|
rs2107502799
|
|
|
NM_000187.4(HGD):c.820C>A (p.Pro274Thr)
|
|
|
|
NM_000187.4(HGD):c.831C>T (p.Tyr277=)
|
rs1940984085
|
|
|
NM_000187.4(HGD):c.852T>C (p.Val284=)
|
|
|
|
NM_000187.4(HGD):c.87+13A>G
|
|
|
|
NM_000187.4(HGD):c.87+1G>A
|
|
|
|
NM_000187.4(HGD):c.87+7G>A
|
rs1576319604
|
|
|
NM_000187.4(HGD):c.87+8C>T
|
|
|
|
NM_000187.4(HGD):c.879+14C>T
|
|
|
|
NM_000187.4(HGD):c.879+14del
|
|
|
|
NM_000187.4(HGD):c.879+9G>A
|
rs915477284
|
|
|
NM_000187.4(HGD):c.88-20T>A
|
|
|
|
NM_000187.4(HGD):c.88-7G>T
|
rs759234521
|
|
|
NM_000187.4(HGD):c.880-20C>A
|
|
|
|
NM_000187.4(HGD):c.880-23_880-18del
|
|
|
|
NM_000187.4(HGD):c.880-4A>G
|
rs781667761
|
|
|
NM_000187.4(HGD):c.891T>C (p.Ile297=)
|
|
|
|
NM_000187.4(HGD):c.897A>G (p.Thr299=)
|
|
|
|
NM_000187.4(HGD):c.898G>C (p.Val300Leu)
|
|
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
|
NM_000187.4(HGD):c.900A>G (p.Val300=)
|
|
|
|
NM_000187.4(HGD):c.931G>A (p.Ala311Thr)
|
|
|
|
NM_000187.4(HGD):c.948C>A (p.Val316=)
|
rs1576289221
|
|
|
NM_000187.4(HGD):c.95C>A (p.Pro32His)
|
|
|
|
NM_000187.4(HGD):c.960T>G (p.Pro320=)
|
rs2107498220
|
|
|
NM_000187.4(HGD):c.961C>T (p.Arg321Ter)
|
|
|
|
NM_000187.4(HGD):c.963A>G (p.Arg321=)
|
|
|
|
NM_000187.4(HGD):c.970dup (p.Val324fs)
|
rs34214309
|
|
|
NM_000187.4(HGD):c.972T>G (p.Val324=)
|
|
|
|
NM_000187.4(HGD):c.999T>C (p.Tyr333=)
|
|
|
|
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
|
|
|
|
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
|
|
|
|
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
|
|
|
|
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
|
|
|
|
NM_000191.3(HMGCL):c.123A>T (p.Arg41=)
|
rs2148425859
|
|
|
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
|
|
|
|
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
|
|
|
|
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
|
|
|
|
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter)
|
rs2148425853
|
|
|
NM_000191.3(HMGCL):c.137dup (p.Asn46fs)
|
rs1638698938
|
|
|
NM_000191.3(HMGCL):c.144+15G>T
|
|
|
|
NM_000191.3(HMGCL):c.144+16A>G
|
|
|
|
NM_000191.3(HMGCL):c.144+18C>G
|
|
|
|
NM_000191.3(HMGCL):c.144+20A>C
|
|
|
|
NM_000191.3(HMGCL):c.144+2T>C
|
rs1001955490
|
|
|
NM_000191.3(HMGCL):c.144+4A>G
|
|
|
|
NM_000191.3(HMGCL):c.144+8T>G
|
rs2148425829
|
|
|
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
|
|
|
|
NM_000191.3(HMGCL):c.145-11C>G
|
|
|
|
NM_000191.3(HMGCL):c.145-16TC[3]
|
rs2148424266
|
|
|
NM_000191.3(HMGCL):c.145-19G>A
|
|
|
|
NM_000191.3(HMGCL):c.145-1G>C
|
|
|
|
NM_000191.3(HMGCL):c.145-5T>A
|
|
|
|
NM_000191.3(HMGCL):c.145-6C>T
|
rs2148424258
|
|
|
NM_000191.3(HMGCL):c.145-7A>C
|
|
|
|
NM_000191.3(HMGCL):c.145-7A>G
|
|
|
|
NM_000191.3(HMGCL):c.145-9C>T
|
|
|
|
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
|
|
|
|
NM_000191.3(HMGCL):c.150C>A (p.Ile50=)
|
rs376705029
|
|
|
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
|
|
|
|
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
|
|
|
|
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
|
|
|
|
NM_000191.3(HMGCL):c.171C>T (p.Ile57=)
|
rs2148424231
|
|
|
NM_000191.3(HMGCL):c.174G>A (p.Lys58=)
|
rs2148424227
|
|
|
NM_000191.3(HMGCL):c.177G>T (p.Leu59=)
|
rs1375512664
|
|
|
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
|
|
|
|
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
|
|
|
|
NM_000191.3(HMGCL):c.183C>T (p.Asp61=)
|
rs755922538
|
|
|
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)
|
rs373738626
|
|
|
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
|
|
|
|
NM_000191.3(HMGCL):c.195A>G (p.Glu65=)
|
rs2148424193
|
|
|
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)
|
rs752137615
|
|
|
NM_000191.3(HMGCL):c.208_209del (p.Val70fs)
|
rs2148424175
|
|
|
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)
|
rs754437215
|
|
|
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)
|
rs754437215
|
|
|
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)
|
rs1570652345
|
|
|
NM_000191.3(HMGCL):c.21G>A (p.Ala7=)
|
rs751528960
|
|
|
NM_000191.3(HMGCL):c.21G>T (p.Ala7=)
|
|
|
|
NM_000191.3(HMGCL):c.225C>T (p.Ser75=)
|
rs1357942068
|
|
|
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
|
|
|
|
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
|
|
|
|
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter)
|
rs2148424154
|
|
|
NM_000191.3(HMGCL):c.24T>C (p.Leu8=)
|
rs2148428459
|
|
|
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
|
|
|
|
NM_000191.3(HMGCL):c.252+10A>G
|
|
|
|
NM_000191.3(HMGCL):c.252+10A>T
|
rs1194729820
|
|
|
NM_000191.3(HMGCL):c.252+12C>A
|
|
|
|
NM_000191.3(HMGCL):c.252+14C>T
|
|
|
|
NM_000191.3(HMGCL):c.252+18A>G
|
|
|
|
NM_000191.3(HMGCL):c.252+19T>C
|
|
|
|
NM_000191.3(HMGCL):c.252+1G>A
|
rs775218067
|
|
|
NM_000191.3(HMGCL):c.252+1G>C
|
|
|
|
NM_000191.3(HMGCL):c.252+8C>G
|
|
|
|
NM_000191.3(HMGCL):c.253-18G>A
|
|
|
|
NM_000191.3(HMGCL):c.253-7T>C
|
rs1391681111
|
|
|
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)
|
rs886046314
|
|
|
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
|
|
|
|
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
|
|
|
|
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)
|
rs890995574
|
|
|
NM_000191.3(HMGCL):c.286del (p.Gln96fs)
|
rs1184002840
|
|
|
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
|
|
|
|
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)
|
rs2148428492
|
|
|
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs)
|
rs1274176298
|
|
|
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
|
|
|
|
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
|
|
|
|
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
|
|
|
|
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)
|
rs2148423771
|
|
|
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)
|
rs1638619737
|
|
|
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
|
|
|
|
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
|
|
|
|
NM_000191.3(HMGCL):c.33A>G (p.Arg11=)
|
rs2148428444
|
|
|
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
|
|
|
|
NM_000191.3(HMGCL):c.348+14T>G
|
|
|
|
NM_000191.3(HMGCL):c.348+17_348+19del
|
|
|
|
NM_000191.3(HMGCL):c.348+1G>A
|
rs1322650779
|
|
|
NM_000191.3(HMGCL):c.348+20G>A
|
|
|
|
NM_000191.3(HMGCL):c.348+7_348+9dup
|
|
|
|
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
|
|
|
|
NM_000191.3(HMGCL):c.349-10A>G
|
rs755304948
|
|
|
NM_000191.3(HMGCL):c.349-15C>T
|
|
|
|
NM_000191.3(HMGCL):c.349-17C>G
|
|
|
|
NM_000191.3(HMGCL):c.349-19T>A
|
|
|
|
NM_000191.3(HMGCL):c.349-4G>A
|
|
|
|
NM_000191.3(HMGCL):c.349-8G>T
|
rs770814366
|
|
|
NM_000191.3(HMGCL):c.349_361del
|
|
|
|
NM_000191.3(HMGCL):c.34C>T (p.Leu12=)
|
rs2148428443
|
|
|
NM_000191.3(HMGCL):c.357T>A (p.Ala119=)
|
rs2148422516
|
|
|
NM_000191.3(HMGCL):c.360A>T (p.Gly120=)
|
|
|
|
NM_000191.3(HMGCL):c.374_375del (p.Val125fs)
|
rs1638575413
|
|
|
NM_000191.3(HMGCL):c.378C>T (p.Ile126=)
|
rs2148422513
|
|
|
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)
|
rs1244160232
|
|
|
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer)
|
rs1638575128
|
|
|
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
|
|
|
|
NM_000191.3(HMGCL):c.402C>T (p.Phe134=)
|
rs11551767
|
|
|
NM_000191.3(HMGCL):c.405C>G (p.Thr135=)
|
|
|
|
NM_000191.3(HMGCL):c.408G>A (p.Lys136=)
|
|
|
|
NM_000191.3(HMGCL):c.411G>A (p.Lys137=)
|
|
|
|
NM_000191.3(HMGCL):c.414C>T (p.Asn138=)
|
|
|
|
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
|
|
|
|
NM_000191.3(HMGCL):c.423T>C (p.Cys141=)
|
rs2148422474
|
|
|
NM_000191.3(HMGCL):c.42C>T (p.Gly14=)
|
rs1638799252
|
|
|
NM_000191.3(HMGCL):c.456A>G (p.Ala152=)
|
rs2148422453
|
|
|
NM_000191.3(HMGCL):c.460C>T (p.Leu154=)
|
rs2148422448
|
|
|
NM_000191.3(HMGCL):c.468A>G (p.Ala156=)
|
rs1017877874
|
|
|
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
|
|
|
|
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
|
|
|
|
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
|
|
|
|
NM_000191.3(HMGCL):c.48G>C (p.Ala16=)
|
rs115611440
|
|
|
NM_000191.3(HMGCL):c.48_60+289del
|
|
|
|
NM_000191.3(HMGCL):c.497+10A>G
|
|
|
|
NM_000191.3(HMGCL):c.497+13A>G
|
|
|
|
NM_000191.3(HMGCL):c.497+1G>A
|
|
|
|
NM_000191.3(HMGCL):c.497+20T>A
|
|
|
|
NM_000191.3(HMGCL):c.497+3G>A
|
rs763178392
|
|
|
NM_000191.3(HMGCL):c.498-12G>A
|
|
|
|
NM_000191.3(HMGCL):c.498-12G>C
|
|
|
|
NM_000191.3(HMGCL):c.498-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter)
|
rs200189529
|
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
|
NM_000191.3(HMGCL):c.513T>C (p.Ala171=)
|
|
|
|
NM_000191.3(HMGCL):c.519C>T (p.Gly173=)
|
|
|
|
NM_000191.3(HMGCL):c.51C>A (p.Ser17=)
|
|
|
|
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)
|
rs112508527
|
|
|
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)
|
rs2148420690
|
|
|
NM_000191.3(HMGCL):c.545del (p.Pro182fs)
|
rs2148420687
|
|
|
NM_000191.3(HMGCL):c.54C>G (p.Leu18=)
|
|
|
|
NM_000191.3(HMGCL):c.54C>T (p.Leu18=)
|
|
|
|
NM_000191.3(HMGCL):c.558T>A (p.Ala186=)
|
rs1638505746
|
|
|
NM_000191.3(HMGCL):c.561+13G>A
|
rs755556712
|
|
|
NM_000191.3(HMGCL):c.561+15C>A
|
|
|
|
NM_000191.3(HMGCL):c.561+19G>A
|
rs1239783360
|
|
|
NM_000191.3(HMGCL):c.561+1G>T
|
|
|
|
NM_000191.3(HMGCL):c.561+7G>C
|
|
|
|
NM_000191.3(HMGCL):c.561+9A>G
|
|
|
|
NM_000191.3(HMGCL):c.562-12T>C
|
|
|
|
NM_000191.3(HMGCL):c.562-14G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-14G>C
|
rs751368427
|
|
|
NM_000191.3(HMGCL):c.562-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.562-18G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-1G>A
|
|
|
|
NM_000191.3(HMGCL):c.562-20G>C
|
|
|
|
NM_000191.3(HMGCL):c.562-2A>G
|
rs1553131955
|
|
|
NM_000191.3(HMGCL):c.562-8T>C
|
rs2148419215
|
|
|
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
|
|
|
|
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
|
|
|
|
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
|
|
|
|
NM_000191.3(HMGCL):c.597G>A (p.Glu199=)
|
rs2148419180
|
|
|
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000191.3(HMGCL):c.60+10C>T
|
|
|
|
NM_000191.3(HMGCL):c.60+12G>T
|
|
|
|
NM_000191.3(HMGCL):c.60+1G>C
|
|
|
|
NM_000191.3(HMGCL):c.60+20G>A
|
|
|
|
NM_000191.3(HMGCL):c.60+6T>A
|
|
|
|
NM_000191.3(HMGCL):c.60+7G>C
|
|
|
|
NM_000191.3(HMGCL):c.60+7G>T
|
rs368461149
|
|
|
NM_000191.3(HMGCL):c.60+8C>A
|
|
|
|
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)
|
rs1553131940
|
|
|
NM_000191.3(HMGCL):c.61-11T>C
|
|
|
|
NM_000191.3(HMGCL):c.61-13T>C
|
|
|
|
NM_000191.3(HMGCL):c.61-14C>T
|
|
|
|
NM_000191.3(HMGCL):c.61-16C>T
|
|
|
|
NM_000191.3(HMGCL):c.61-1G>C
|
rs1638701269
|
|
|
NM_000191.3(HMGCL):c.61-4A>G
|
|
|
|
NM_000191.3(HMGCL):c.610del (p.Asp204fs)
|
rs2148419170
|
|
|
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)
|
rs1445870588
|
|
|
NM_000191.3(HMGCL):c.621T>G (p.Gly207=)
|
rs1638449170
|
|
|
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
|
|
|
|
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
|
|
|
|
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)
|
rs1570645382
|
|
|
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)
|
rs886046313
|
|
|
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)
|
rs767993106
|
|
|
NM_000191.3(HMGCL):c.652C>T (p.Leu218=)
|
rs779813777
|
|
|
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)
|
rs745624801
|
|
|
NM_000191.3(HMGCL):c.663C>G (p.Val221=)
|
rs143884026
|
|
|
NM_000191.3(HMGCL):c.675G>A (p.Val225=)
|
rs1266803426
|
|
|
NM_000191.3(HMGCL):c.675G>C (p.Val225=)
|
|
|
|
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
|
|
|
|
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)
|
rs752913892
|
|
|
NM_000191.3(HMGCL):c.687C>A (p.Ala229=)
|
rs1638447338
|
|
|
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
|
|
|
|
NM_000191.3(HMGCL):c.699C>T (p.His233=)
|
|
|
|
NM_000191.3(HMGCL):c.6A>T (p.Ala2=)
|
rs375969301
|
|
|
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
|
|
|
|
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)
|
rs886046312
|
|
|
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
|
|
|
|
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
|
|
|
|
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
|
|
|
|
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)
|
rs763416473
|
|
|
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
|
|
|
|
NM_000191.3(HMGCL):c.72A>C (p.Ser24=)
|
rs2148425901
|
|
|
NM_000191.3(HMGCL):c.72A>G (p.Ser24=)
|
rs2148425901
|
|
|
NM_000191.3(HMGCL):c.732C>T (p.Asn244=)
|
|
|
|
NM_000191.3(HMGCL):c.735C>G (p.Thr245=)
|
rs202074025
|
|
|
NM_000191.3(HMGCL):c.735C>T (p.Thr245=)
|
|
|
|
NM_000191.3(HMGCL):c.736T>C (p.Leu246=)
|
rs143823689
|
|
|
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
|
|
|
|
NM_000191.3(HMGCL):c.745C>T (p.Leu249=)
|
|
|
|
NM_000191.3(HMGCL):c.750+14T>A
|
rs778868742
|
|
|
NM_000191.3(HMGCL):c.750+14T>C
|
|
|
|
NM_000191.3(HMGCL):c.750+14del
|
|
|
|
NM_000191.3(HMGCL):c.750+18C>T
|
|
|
|
NM_000191.3(HMGCL):c.750+19C>T
|
|
|
|
NM_000191.3(HMGCL):c.750+2T>C
|
|
|
|
NM_000191.3(HMGCL):c.750+6C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-10A>G
|
|
|
|
NM_000191.3(HMGCL):c.751-10_751-9del
|
rs1638366878
|
|
|
NM_000191.3(HMGCL):c.751-11T>C
|
|
|
|
NM_000191.3(HMGCL):c.751-13C>G
|
|
|
|
NM_000191.3(HMGCL):c.751-15T>A
|
|
|
|
NM_000191.3(HMGCL):c.751-17C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-3T>C
|
rs1356054021
|
|
|
NM_000191.3(HMGCL):c.751-4C>T
|
|
|
|
NM_000191.3(HMGCL):c.751-7T>C
|
|
|
|
NM_000191.3(HMGCL):c.751-8G>A
|
|
|
|
NM_000191.3(HMGCL):c.751-9T>C
|
|
|
|
NM_000191.3(HMGCL):c.759G>A (p.Val253=)
|
rs1570642400
|
|
|
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
|
|
|
|
NM_000191.3(HMGCL):c.765C>A (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.765C>G (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
|
rs778296169
|
|
|
NM_000191.3(HMGCL):c.769del (p.Asp257fs)
|
rs2148417048
|
|
|
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)
|
rs756958205
|
|
|
NM_000191.3(HMGCL):c.771C>T (p.Asp257=)
|
rs1300668281
|
|
|
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
|
|
|
|
NM_000191.3(HMGCL):c.795C>G (p.Gly265=)
|
rs1488079271
|
|
|
NM_000191.3(HMGCL):c.795C>T (p.Gly265=)
|
rs1488079271
|
|
|
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)
|
rs1220289416
|
|
|
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)
|
rs750347526
|
|
|
NM_000191.3(HMGCL):c.801C>T (p.Pro267=)
|
|
|
|
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
|
|
|
|
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
|
|
|
|
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)
|
rs1638363983
|
|
|
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
|
|
|
|
NM_000191.3(HMGCL):c.826T>C (p.Leu276=)
|
rs2148416982
|
|
|
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
|
|
|
|
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)
|
rs1638363122
|
|
|
NM_000191.3(HMGCL):c.841C>T (p.Leu281=)
|
rs1638363122
|
|
|
NM_000191.3(HMGCL):c.846C>T (p.Val282=)
|
rs2148416963
|
|
|
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)
|
|
|
|
NM_000191.3(HMGCL):c.862T>C (p.Leu288=)
|
|
|
|
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
|
|
|
|
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
|
|
|
|
NM_000191.3(HMGCL):c.874_876+31del
|
|
|
|
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
|
|
|
|
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)
|
rs1638362250
|
|
|
NM_000191.3(HMGCL):c.876+14C>A
|
|
|
|
NM_000191.3(HMGCL):c.876+17C>G
|
|
|
|
NM_000191.3(HMGCL):c.876+18del
|
|
|
|
NM_000191.3(HMGCL):c.876+19del
|
|
|
|
NM_000191.3(HMGCL):c.876+5_876+8dup
|
rs1261907415
|
|
|
NM_000191.3(HMGCL):c.876+7C>A
|
|
|
|
NM_000191.3(HMGCL):c.876+9A>G
|
|
|
|
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
|
|
|
|
NM_000191.3(HMGCL):c.877-11G>T
|
|
|
|
NM_000191.3(HMGCL):c.877-17T>C
|
|
|
|
NM_000191.3(HMGCL):c.877-17dup
|
|
|
|
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
|
|
|
|
NM_000191.3(HMGCL):c.888C>T (p.Leu296=)
|
|
|
|
NM_000191.3(HMGCL):c.894G>A (p.Lys298=)
|
|
|
|
NM_000191.3(HMGCL):c.897T>A (p.Leu299=)
|
rs992734996
|
|
|
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)
|
rs2148415814
|
|
|
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)
|
rs1638700415
|
|
|
NM_000191.3(HMGCL):c.909A>G (p.Gly303=)
|
|
|
|
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)
|
rs786205431
|
|
|
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
|
|
|
|
NM_000191.3(HMGCL):c.918C>T (p.Ile306=)
|
rs2148415804
|
|
|
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
|
|
|
|
NM_000191.3(HMGCL):c.933C>T (p.Asn311=)
|
rs1194563406
|
|
|
NM_000191.3(HMGCL):c.93G>A (p.Lys31=)
|
|
|
|
NM_000191.3(HMGCL):c.942T>A (p.Thr314=)
|
|
|
|
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)
|
rs1557484629
|
|
|
NM_000191.3(HMGCL):c.960G>A (p.Gln320=)
|
|
|
|
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)
|
|
|
|
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
|
|
|
|
NM_000191.3(HMGCL):c.969T>C (p.Cys323=)
|
rs2148415747
|
|
|
NM_000240.4(MAOA):c.1052+17T>G
|
|
|
|
NM_000240.4(MAOA):c.1052+4G>C
|
|
|
|
NM_000240.4(MAOA):c.1053-10C>G
|
rs1601948966
|
|
|
NM_000240.4(MAOA):c.1094A>G (p.His365Arg)
|
|
|
|
NM_000240.4(MAOA):c.1106+15C>T
|
|
|
|
NM_000240.4(MAOA):c.1164+7A>C
|
|
|
|
NM_000240.4(MAOA):c.1165-18T>G
|
|
|
|
NM_000240.4(MAOA):c.1214del (p.Gly405fs)
|
rs2147107556
|
|
|
NM_000240.4(MAOA):c.1215C>T (p.Gly405=)
|
|
|
|
NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)
|
|
|
|
NM_000240.4(MAOA):c.1263-16C>G
|
|
|
|
NM_000240.4(MAOA):c.1279G>A (p.Val427Met)
|
|
|
|
NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)
|
|
|
|
NM_000240.4(MAOA):c.1299G>A (p.Ala433=)
|
|
|
|
NM_000240.4(MAOA):c.1361G>A (p.Arg454Gln)
|
rs2033978967
|
|
|
NM_000240.4(MAOA):c.1375-14T>C
|
|
|
|
NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)
|
|
|
|
NM_000240.4(MAOA):c.1401C>T (p.Thr467=)
|
|
|
|
NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)
|
|
|
|
NM_000240.4(MAOA):c.1437+11T>C
|
|
|
|
NM_000240.4(MAOA):c.1437+4A>T
|
|
|
|
NM_000240.4(MAOA):c.1440C>A (p.Asp480Glu)
|
rs367715125
|
|
|
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
|
|
|
|
NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)
|
|
|
|
NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)
|
|
|
|
NM_000240.4(MAOA):c.1567C>T (p.Leu523Phe)
|
rs2033984974
|
|
|
NM_000240.4(MAOA):c.15G>A (p.Glu5=)
|
rs2147066663
|
|
|
NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)
|
|
|
|
NM_000240.4(MAOA):c.163A>G (p.Ile55Val)
|
|
|
|
NM_000240.4(MAOA):c.168+11_168+15del
|
rs375984321
|
|
|
NM_000240.4(MAOA):c.186C>T (p.Tyr62=)
|
|
|
|
NM_000240.4(MAOA):c.188T>C (p.Val63Ala)
|
|
|
|
NM_000240.4(MAOA):c.290T>C (p.Leu97Pro)
|
rs2147085459
|
|
|
NM_000240.4(MAOA):c.306+18C>A
|
|
|
|
NM_000240.4(MAOA):c.307-18T>C
|
|
|
|
NM_000240.4(MAOA):c.307-19G>C
|
|
|
|
NM_000240.4(MAOA):c.3G>A (p.Met1Ile)
|
rs1601921232
|
|
|
NM_000240.4(MAOA):c.412-20G>A
|
|
|
|
NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)
|
|
|
|
NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)
|
|
|
|
NM_000240.4(MAOA):c.576G>T (p.Leu192=)
|
|
|
|
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
|
|
|
|
NM_000240.4(MAOA):c.645+13T>A
|
|
|
|
NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)
|
|
|
|
NM_000240.4(MAOA):c.73+19G>C
|
|
|
|
NM_000240.4(MAOA):c.732C>T (p.Val244=)
|
rs980804164
|
|
|
NM_000240.4(MAOA):c.736C>A (p.His246Asn)
|
|
|
|
NM_000240.4(MAOA):c.74-6C>T
|
rs1196492976
|
|
|
NM_000240.4(MAOA):c.74-9T>A
|
|
|
|
NM_000240.4(MAOA):c.766A>G (p.Ile256Val)
|
rs2147102887
|
|
|
NM_000240.4(MAOA):c.774G>A (p.Thr258=)
|
|
|
|
NM_000240.4(MAOA):c.796-15T>G
|
|
|
|
NM_000240.4(MAOA):c.796-9G>A
|
rs2033882536
|
|
|
NM_000240.4(MAOA):c.804C>T (p.Tyr268=)
|
|
|
|
NM_000240.4(MAOA):c.812A>G (p.Asn271Ser)
|
rs2147103024
|
|
|
NM_000240.4(MAOA):c.831G>A (p.Leu277=)
|
|
|
|
NM_000240.4(MAOA):c.933G>A (p.Lys311=)
|
|
|
|
NM_000240.4(MAOA):c.955+4G>A
|
|
|
|
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
|
|
|
|
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys)
|
rs1322031909
|
|
|
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
|
|
|
|
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
|
|
|
|
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
|
|
|
|
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
|
|
|
|
NM_000254.3(MTR):c.1075+12A>C
|
|
|
|
NM_000254.3(MTR):c.1075+14A>T
|
|
|
|
NM_000254.3(MTR):c.1076-11C>G
|
rs186367553
|
|
|
NM_000254.3(MTR):c.1076-19A>T
|
|
|
|
NM_000254.3(MTR):c.1076-20A>T
|
|
|
|
NM_000254.3(MTR):c.1076-9C>T
|
|
|
|
NM_000254.3(MTR):c.1077T>G (p.Gly359=)
|
rs745469748
|
|
|
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
|
|
|
|
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
|
|
|
|
NM_000254.3(MTR):c.1101G>A (p.Pro367=)
|
rs763018049
|
|
|
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp)
|
rs1662641467
|
|
|
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
|
|
|
|
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
|
|
|
|
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
|
|
|
|
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
|
|
|
|
NM_000254.3(MTR):c.1188+19C>T
|
|
|
|
NM_000254.3(MTR):c.1188+1G>A
|
rs2103130072
|
|
|
NM_000254.3(MTR):c.1188+7A>G
|
|
|
|
NM_000254.3(MTR):c.1189-11T>C
|
rs2103148397
|
|
|
NM_000254.3(MTR):c.1189-14C>G
|
|
|
|
NM_000254.3(MTR):c.1189-18C>T
|
|
|
|
NM_000254.3(MTR):c.1189-20C>T
|
|
|
|
NM_000254.3(MTR):c.1189-7C>T
|
|
|
|
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
|
|
|
|
NM_000254.3(MTR):c.1200dup (p.Val401fs)
|
|
|
|
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
|
|
|
|
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
|
|
|
|
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
|
|
|
|
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
|
|
|
|
NM_000254.3(MTR):c.1251G>T (p.Met417Ile)
|
rs2103148829
|
|
|
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
|
|
|
|
NM_000254.3(MTR):c.1266A>G (p.Leu422=)
|
rs984927112
|
|
|
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
|
|
|
|
NM_000254.3(MTR):c.126G>A (p.Gln42=)
|
|
|
|
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp)
|
rs2103149012
|
|
|
NM_000254.3(MTR):c.128G>A (p.Arg43Gln)
|
rs143088011
|
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
|
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
|
|
|
|
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
|
|
|
|
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
|
|
|
|
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
|
|
|
|
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
|
|
|
|
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)
|
rs770004849
|
|
|
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
|
|
|
|
NM_000254.3(MTR):c.1329+14T>C
|
|
|
|
NM_000254.3(MTR):c.1329+15_1329+16del
|
|
|
|
NM_000254.3(MTR):c.1329+16T>C
|
|
|
|
NM_000254.3(MTR):c.1329+16del
|
|
|
|
NM_000254.3(MTR):c.1329+19T>G
|
|
|
|
NM_000254.3(MTR):c.1329+9A>G
|
|
|
|
NM_000254.3(MTR):c.1330-10C>T
|
|
|
|
NM_000254.3(MTR):c.1330-12T>C
|
|
|
|
NM_000254.3(MTR):c.1330-2A>T
|
|
|
|
NM_000254.3(MTR):c.1330-5C>A
|
|
|
|
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
|
|
|
|
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
|
|
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
|
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
|
|
|
|
NM_000254.3(MTR):c.135G>A (p.Lys45=)
|
rs747724978
|
|
|
NM_000254.3(MTR):c.1362T>G (p.Ala454=)
|
rs376684560
|
|
|
NM_000254.3(MTR):c.136C>T (p.Leu46=)
|
|
|
|
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
|
|
|
|
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
|
|
|
|
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
|
|
|
|
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
|
|
|
|
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser)
|
rs2103166386
|
|
|
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
|
|
|
|
NM_000254.3(MTR):c.141C>T (p.Asn47=)
|
|
|
|
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
|
|
|
|
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
|
|
|
|
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
|
|
|
|
NM_000254.3(MTR):c.1488G>C (p.Val496=)
|
|
|
|
NM_000254.3(MTR):c.1491C>T (p.Val497=)
|
|
|
|
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
|
|
|
|
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
|
|
|
|
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
|
|
|
|
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
|
|
|
|
NM_000254.3(MTR):c.1512del (p.Gln505fs)
|
|
|
|
NM_000254.3(MTR):c.1515+14T>G
|
|
|
|
NM_000254.3(MTR):c.1515+16T>C
|
|
|
|
NM_000254.3(MTR):c.1515+17G>A
|
|
|
|
NM_000254.3(MTR):c.1515+2T>C
|
|
|
|
NM_000254.3(MTR):c.1516-11C>G
|
|
|
|
NM_000254.3(MTR):c.1516-11C>T
|
|
|
|
NM_000254.3(MTR):c.1516-15dup
|
|
|
|
NM_000254.3(MTR):c.1516-5C>T
|
|
|
|
NM_000254.3(MTR):c.1516-6C>G
|
|
|
|
NM_000254.3(MTR):c.1516-6C>T
|
|
|
|
NM_000254.3(MTR):c.1516-7T>G
|
|
|
|
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
|
|
|
|
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln)
|
rs1572261571
|
|
|
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
|
|
|
|
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
|
|
|
|
NM_000254.3(MTR):c.1544T>G (p.Val515Gly)
|
rs1663828645
|
|
|
NM_000254.3(MTR):c.1545G>A (p.Val515=)
|
|
|
|
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
|
|
|
|
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
|
|
|
|
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
|
|
|
|
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
|
|
|
|
NM_000254.3(MTR):c.1575A>G (p.Lys525=)
|
rs199700767
|
|
|
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn)
|
rs199700767
|
|
|
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
|
|
|
|
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
|
|
|
|
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
|
|
|
|
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
|
|
|
|
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
|
|
|
|
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
|
|
|
|
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
|
|
|
|
NM_000254.3(MTR):c.1647A>G (p.Glu549=)
|
rs1171736020
|
|
|
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
|
|
|
|
NM_000254.3(MTR):c.1689C>A (p.Val563=)
|
|
|
|
NM_000254.3(MTR):c.1689C>T (p.Val563=)
|
|
|
|
NM_000254.3(MTR):c.1695+10G>A
|
|
|
|
NM_000254.3(MTR):c.1695+11G>A
|
|
|
|
NM_000254.3(MTR):c.1695+13A>G
|
|
|
|
NM_000254.3(MTR):c.1695+13A>T
|
|
|
|
NM_000254.3(MTR):c.1695+14T>C
|
|
|
|
NM_000254.3(MTR):c.1695+17T>G
|
|
|
|
NM_000254.3(MTR):c.1695+18C>T
|
|
|
|
NM_000254.3(MTR):c.1695+20C>T
|
|
|
|
NM_000254.3(MTR):c.1695+6T>C
|
|
|
|
NM_000254.3(MTR):c.1695+7G>A
|
|
|
|
NM_000254.3(MTR):c.1695+7G>T
|
rs183273480
|
|
|
NM_000254.3(MTR):c.1696-14A>G
|
|
|
|
NM_000254.3(MTR):c.1696-18T>C
|
rs2103252601
|
|
|
NM_000254.3(MTR):c.1696-19A>G
|
|
|
|
NM_000254.3(MTR):c.1696-4C>T
|
|
|
|
NM_000254.3(MTR):c.1696-5G>A
|
|
|
|
NM_000254.3(MTR):c.1696-5G>T
|
|
|
|
NM_000254.3(MTR):c.1696-6T>C
|
|
|
|
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
|
|
|
|
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
|
|
|
|
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
|
|
|
|
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
|
|
|
|
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
|
|
|
|
NM_000254.3(MTR):c.174T>C (p.Asp58=)
|
rs2103013970
|
|
|
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
|
|
|
|
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
|
|
|
|
NM_000254.3(MTR):c.177T>C (p.His59=)
|
|
|
|
NM_000254.3(MTR):c.1803T>C (p.His601=)
|
|
|
|
NM_000254.3(MTR):c.1812+10A>G
|
|
|
|
NM_000254.3(MTR):c.1812+12G>T
|
|
|
|
NM_000254.3(MTR):c.1812+15C>T
|
|
|
|
NM_000254.3(MTR):c.1812+16T>A
|
|
|
|
NM_000254.3(MTR):c.1812+17C>T
|
|
|
|
NM_000254.3(MTR):c.1812_1812+1insATAC
|
|
|
|
NM_000254.3(MTR):c.1813-11A>G
|
rs1289723374
|
|
|
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
|
|
|
|
NM_000254.3(MTR):c.186G>A (p.Pro62=)
|
|
|
|
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
|
|
|
|
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
|
|
|
|
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
|
|
|
|
NM_000254.3(MTR):c.18A>G (p.Gln6=)
|
|
|
|
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
|
|
|
|
NM_000254.3(MTR):c.192A>G (p.Lys64=)
|
|
|
|
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
|
|
|
|
NM_000254.3(MTR):c.1953+11A>C
|
|
|
|
NM_000254.3(MTR):c.1953+12A>G
|
|
|
|
NM_000254.3(MTR):c.1953+13G>A
|
|
|
|
NM_000254.3(MTR):c.1953+15G>T
|
|
|
|
NM_000254.3(MTR):c.1953+18C>T
|
|
|
|
NM_000254.3(MTR):c.1953+19T>A
|
|
|
|
NM_000254.3(MTR):c.1953+20A>G
|
|
|
|
NM_000254.3(MTR):c.1953+3A>G
|
rs781246271
|
|
|
NM_000254.3(MTR):c.1953+9A>C
|
|
|
|
NM_000254.3(MTR):c.1954-11T>A
|
|
|
|
NM_000254.3(MTR):c.1954-12A>C
|
rs192346180
|
|
|
NM_000254.3(MTR):c.1954-12A>G
|
|
|
|
NM_000254.3(MTR):c.1954-19G>C
|
rs2103290480
|
|
|
NM_000254.3(MTR):c.1954-4T>C
|
|
|
|
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
|
|
|
|
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
|
|
|
|
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg)
|
rs1664416870
|
|
|
NM_000254.3(MTR):c.1986G>T (p.Gln662His)
|
rs1664418343
|
|
|
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
|
|
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
|
NM_000254.3(MTR):c.2013C>A (p.Val671=)
|
|
|
|
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser)
|
rs150058137
|
|
|
NM_000254.3(MTR):c.2021G>A (p.Arg674His)
|
rs774231870
|
|
|
NM_000254.3(MTR):c.2022C>T (p.Arg674=)
|
rs2103291244
|
|
|
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
|
|
|
|
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
|
|
|
|
NM_000254.3(MTR):c.2043+15C>T
|
|
|
|
NM_000254.3(MTR):c.2043+8A>G
|
|
|
|
NM_000254.3(MTR):c.2043+9C>T
|
rs2103291466
|
|
|
NM_000254.3(MTR):c.2044-11_2044-9del
|
rs542174711
|
|
|
NM_000254.3(MTR):c.2044-11dup
|
|
|
|
NM_000254.3(MTR):c.2044-12T>C
|
|
|
|
NM_000254.3(MTR):c.2044-17T>C
|
|
|
|
NM_000254.3(MTR):c.2044-19T>C
|
|
|
|
NM_000254.3(MTR):c.2044-1G>A
|
|
|
|
NM_000254.3(MTR):c.2044-20T>C
|
|
|
|
NM_000254.3(MTR):c.2044-4T>C
|
|
|
|
NM_000254.3(MTR):c.2044-7T>G
|
|
|
|
NM_000254.3(MTR):c.2044-8T>C
|
rs1664517879
|
|
|
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
|
|
|
|
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
|
|
|
|
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
|
|
|
|
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
|
|
|
|
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
|
|
|
|
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
|
|
|
|
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
|
|
|
|
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
|
|
|
|
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
|
|
|
|
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
|
|
|
|
NM_000254.3(MTR):c.2118T>C (p.Asn706=)
|
rs1664526437
|
|
|
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
|
|
|
|
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
|
|
|
|
NM_000254.3(MTR):c.2139del (p.Met713fs)
|
|
|
|
NM_000254.3(MTR):c.213T>C (p.Ser71=)
|
|
|
|
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
|
|
|
|
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro)
|
rs1553321807
|
|
|
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
|
|
|
|
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
|
|
|
|
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
|
|
|
|
NM_000254.3(MTR):c.2196+12A>C
|
rs1664530187
|
|
|
NM_000254.3(MTR):c.2196+13T>C
|
|
|
|
NM_000254.3(MTR):c.2196+15G>A
|
|
|
|
NM_000254.3(MTR):c.2196+17G>A
|
|
|
|
NM_000254.3(MTR):c.2196+17G>C
|
|
|
|
NM_000254.3(MTR):c.2196+19G>A
|
rs372533462
|
|
|
NM_000254.3(MTR):c.2196+5G>A
|
rs2103301889
|
|
|
NM_000254.3(MTR):c.2197-18C>A
|
|
|
|
NM_000254.3(MTR):c.2197-18C>G
|
|
|
|
NM_000254.3(MTR):c.2197-5C>G
|
|
|
|
NM_000254.3(MTR):c.2197-6T>C
|
rs1328542941
|
|
|
NM_000254.3(MTR):c.2197-6dup
|
|
|
|
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
|
|
|
|
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
|
|
|
|
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
|
|
|
|
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
|
|
|
|
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
|
|
|
|
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
|
|
|
|
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
|
|
|
|
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
|
|
|
|
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
|
|
|
|
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
|
|
|
|
NM_000254.3(MTR):c.225T>G (p.Pro75=)
|
|
|
|
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
|
|
|
|
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
|
|
|
|
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
|
|
|
|
NM_000254.3(MTR):c.2282T>A (p.Leu761His)
|
rs1664590593
|
|
|
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
|
|
|
|
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
|
|
|
|
NM_000254.3(MTR):c.2304+16C>A
|
|
|
|
NM_000254.3(MTR):c.2304+16C>T
|
|
|
|
NM_000254.3(MTR):c.2304+3A>C
|
rs1572283994
|
|
|
NM_000254.3(MTR):c.2305-11T>C
|
|
|
|
NM_000254.3(MTR):c.2305-11T>G
|
|
|
|
NM_000254.3(MTR):c.2305-14G>T
|
|
|
|
NM_000254.3(MTR):c.2305-1G>T
|
rs1664661222
|
|
|
NM_000254.3(MTR):c.2305-2A>G
|
|
|
|
NM_000254.3(MTR):c.2305-4C>T
|
|
|
|
NM_000254.3(MTR):c.2305-5T>C
|
|
|
|
NM_000254.3(MTR):c.2305-9C>T
|
|
|
|
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala)
|
rs968363996
|
|
|
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
|
|
|
|
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
|
|
|
|
NM_000254.3(MTR):c.2333C>T (p.Ala778Val)
|
rs2103313543
|
|
|
NM_000254.3(MTR):c.2346C>T (p.Gly782=)
|
rs777213189
|
|
|
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
|
|
|
|
NM_000254.3(MTR):c.2355C>T (p.His785=)
|
|
|
|
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
|
|
|
|
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
|
|
|
|
NM_000254.3(MTR):c.2385C>A (p.Val795=)
|
|
|
|
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
|
|
|
|
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
|
|
|
|
NM_000254.3(MTR):c.2405+18del
|
|
|
|
NM_000254.3(MTR):c.2405+20C>G
|
|
|
|
NM_000254.3(MTR):c.2405+20C>T
|
|
|
|
NM_000254.3(MTR):c.2405+8A>G
|
rs886046221
|
|
|
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln)
|
rs760932771
|
|
|
NM_000254.3(MTR):c.2406-10T>C
|
|
|
|
NM_000254.3(MTR):c.2406-18C>G
|
|
|
|
NM_000254.3(MTR):c.2406-18C>T
|
|
|
|
NM_000254.3(MTR):c.2406-2A>T
|
|
|
|
NM_000254.3(MTR):c.2406-8T>G
|
|
|
|
NM_000254.3(MTR):c.2406-9G>C
|
|
|
|
NM_000254.3(MTR):c.240A>G (p.Gln80=)
|
|
|
|
NM_000254.3(MTR):c.2424C>G (p.Val808=)
|
|
|
|
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
|
|
|
|
NM_000254.3(MTR):c.2472A>T (p.Ala824=)
|
rs1665277178
|
|
|
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
|
|
|
|
NM_000254.3(MTR):c.2473+17C>T
|
|
|
|
NM_000254.3(MTR):c.2473+20T>A
|
|
|
|
NM_000254.3(MTR):c.2473+9C>A
|
|
|
|
NM_000254.3(MTR):c.2474-10A>T
|
|
|
|
NM_000254.3(MTR):c.2474-15A>T
|
|
|
|
NM_000254.3(MTR):c.2474-17_2474-16inv
|
|
|
|
NM_000254.3(MTR):c.2474-18T>C
|
rs10925256
|
|
|
NM_000254.3(MTR):c.2474-18_2474-17insTA
|
|
|
|
NM_000254.3(MTR):c.2474-19_2474-17del
|
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18insAA
|
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18inv
|
|
|
|
NM_000254.3(MTR):c.2474-20_2474-19insA
|
rs1665333724
|
|
|
NM_000254.3(MTR):c.2474-4del
|
rs546254033
|
|
|
NM_000254.3(MTR):c.2474-4dup
|
rs546254033
|
|
|
NM_000254.3(MTR):c.2474-5_2474-4del
|
rs546254033
|
|
|
NM_000254.3(MTR):c.2474-5_2474-4dup
|
rs546254033
|
|
|
NM_000254.3(MTR):c.2474-9A>C
|
|
|
|
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer)
|
rs1572309822
|
|
|
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
|
|
|
|
NM_000254.3(MTR):c.249+11C>T
|
|
|
|
NM_000254.3(MTR):c.249+15G>T
|
|
|
|
NM_000254.3(MTR):c.249+16del
|
|
|
|
NM_000254.3(MTR):c.249+19C>G
|
|
|
|
NM_000254.3(MTR):c.249+20C>G
|
|
|
|
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
|
|
|
|
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
|
|
|
|
NM_000254.3(MTR):c.250-10C>G
|
|
|
|
NM_000254.3(MTR):c.250-12C>G
|
|
|
|
NM_000254.3(MTR):c.250-15A>C
|
|
|
|
NM_000254.3(MTR):c.250-4dup
|
|
|
|
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
|
|
|
|
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
|
|
|
|
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
|
|
|
|
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
|
|
|
|
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
|
|
|
|
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
|
|
|
|
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
|
|
|
|
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr)
|
rs2147881808
|
|
|
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
|
|
|
|
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
|
|
|
|
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
|
|
|
|
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
|
|
|
|
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
|
|
|
|
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
|
|
|
|
NM_000254.3(MTR):c.2594+10A>G
|
|
|
|
NM_000254.3(MTR):c.2594+11C>T
|
|
|
|
NM_000254.3(MTR):c.2594+18G>A
|
rs1558329619
|
|
|
NM_000254.3(MTR):c.2594+19C>G
|
|
|
|
NM_000254.3(MTR):c.2594+1_2594+36dup
|
|
|
|
NM_000254.3(MTR):c.2594+20_2594+28dup
|
|
|
|
NM_000254.3(MTR):c.2594+5G>A
|
|
|
|
NM_000254.3(MTR):c.2595-2A>G
|
rs1558334603
|
|
|
NM_000254.3(MTR):c.2595-3del
|
|
|
|
NM_000254.3(MTR):c.2595-8C>G
|
|
|
|
NM_000254.3(MTR):c.2595-8C>T
|
|
|
|
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
|
|
|
|
NM_000254.3(MTR):c.2601C>T (p.His867=)
|
|
|
|
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
|
|
|
|
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
|
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
|
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
|
|
|
|
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
|
|
|
|
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
|
|
|
|
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg)
|
rs1553326540
|
|
|
NM_000254.3(MTR):c.2669_2670del (p.Val890fs)
|
rs794727395
|
|
|
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
|
|
|
|
NM_000254.3(MTR):c.2676+11G>A
|
|
|
|
NM_000254.3(MTR):c.2676+14C>G
|
|
|
|
NM_000254.3(MTR):c.2676+17A>C
|
|
|
|
NM_000254.3(MTR):c.2676+17A>G
|
|
|
|
NM_000254.3(MTR):c.2676+19A>G
|
|
|
|
NM_000254.3(MTR):c.2676+23dup
|
|
|
|
NM_000254.3(MTR):c.2676+8G>T
|
|
|
|
NM_000254.3(MTR):c.2677-10dup
|
|
|
|
NM_000254.3(MTR):c.2677-13C>T
|
|
|
|
NM_000254.3(MTR):c.2677-15A>G
|
|
|
|
NM_000254.3(MTR):c.2677-5T>G
|
|
|
|
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
|
|
|
|
NM_000254.3(MTR):c.270A>G (p.Ala90=)
|
|
|
|
NM_000254.3(MTR):c.271G>C (p.Asp91His)
|
|
|
|
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
|
|
|
|
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
|
|
|
|
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
|
|
|
|
NM_000254.3(MTR):c.2744A>T (p.Asp915Val)
|
rs977928036
|
|
|
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
|
|
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
|
NM_000254.3(MTR):c.2760T>C (p.His920=)
|
|
|
|
NM_000254.3(MTR):c.2775+17G>A
|
|
|
|
NM_000254.3(MTR):c.2775+19T>G
|
|
|
|
NM_000254.3(MTR):c.2775+1G>T
|
|
|
|
NM_000254.3(MTR):c.2775+4A>G
|
|
|
|
NM_000254.3(MTR):c.2775+7G>A
|
|
|
|
NM_000254.3(MTR):c.2776-11T>G
|
|
|
|
NM_000254.3(MTR):c.2776-6dup
|
|
|
|
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
|
|
|
|
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
|
|
|
|
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
|
|
|
|
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
|
|
|
|
NM_000254.3(MTR):c.2802A>G (p.Gln934=)
|
rs963291512
|
|
|
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
|
|
|
|
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
|
|
|
|
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
|
|
|
|
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
|
|
|
|
NM_000254.3(MTR):c.2851+13A>G
|
|
|
|
NM_000254.3(MTR):c.2851+2T>G
|
rs2147922731
|
|
|
NM_000254.3(MTR):c.2851+8T>G
|
|
|
|
NM_000254.3(MTR):c.2852-11C>G
|
|
|
|
NM_000254.3(MTR):c.2852-13T>C
|
|
|
|
NM_000254.3(MTR):c.2852-15A>T
|
|
|
|
NM_000254.3(MTR):c.2852-17A>G
|
|
|
|
NM_000254.3(MTR):c.2852-18C>T
|
|
|
|
NM_000254.3(MTR):c.2852-4G>T
|
|
|
|
NM_000254.3(MTR):c.2852-7C>T
|
rs1233643439
|
|
|
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
|
|
|
|
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
|
|
|
|
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
|
|
|
|
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
|
|
|
|
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
|
|
|
|
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
|
|
|
|
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
|
|
|
|
NM_000254.3(MTR):c.2890T>C (p.Tyr964His)
|
rs779579945
|
|
|
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
|
|
|
|
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
|
|
|
|
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
|
|
|
|
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
|
|
|
|
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
|
|
|
|
NM_000254.3(MTR):c.294T>C (p.Phe98=)
|
|
|
|
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
|
|
|
|
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
|
|
|
|
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
|
|
|
|
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
|
|
|
|
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
|
|
|
|
NM_000254.3(MTR):c.3007+15T>G
|
|
|
|
NM_000254.3(MTR):c.3007+1G>C
|
|
|
|
NM_000254.3(MTR):c.3007+20C>T
|
|
|
|
NM_000254.3(MTR):c.3007+7G>A
|
|
|
|
NM_000254.3(MTR):c.3008-13G>T
|
|
|
|
NM_000254.3(MTR):c.3008-15C>A
|
|
|
|
NM_000254.3(MTR):c.3008-19_3008-14del
|
|
|
|
NM_000254.3(MTR):c.3008-2A>G
|
|
|
|
NM_000254.3(MTR):c.3008-3T>C
|
rs1286783552
|
|
|
NM_000254.3(MTR):c.3008-4A>G
|
rs1224783275
|
|
|
NM_000254.3(MTR):c.3008-5A>G
|
|
|
|
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly)
|
rs1666296405
|
|
|
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
|
|
|
|
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
|
|
|
|
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
|
|
|
|
NM_000254.3(MTR):c.3057A>G (p.Thr1019=)
|
rs1394740700
|
|
|
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
|
|
|
|
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln)
|
rs2147939390
|
|
|
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
|
|
|
|
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
|
|
|
|
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
|
|
|
|
NM_000254.3(MTR):c.30A>G (p.Gln10=)
|
|
|
|
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
|
|
|
|
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
|
|
|
|
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
|
|
|
|
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
|
|
|
|
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
|
|
|
|
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe)
|
rs1572341910
|
|
|
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
|
|
|
|
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly)
|
rs1666303969
|
|
|
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
|
|
|
|
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
|
|
|
|
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
|
|
|
|
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
|
|
|
|
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
|
|
|
|
NM_000254.3(MTR):c.3204+11T>C
|
|
|
|
NM_000254.3(MTR):c.3204+14A>G
|
|
|
|
NM_000254.3(MTR):c.3204+20A>G
|
|
|
|
NM_000254.3(MTR):c.3205-12C>T
|
|
|
|
NM_000254.3(MTR):c.3205-13C>T
|
|
|
|
NM_000254.3(MTR):c.3205-15C>T
|
|
|
|
NM_000254.3(MTR):c.3205-16A>G
|
|
|
|
NM_000254.3(MTR):c.3205-18A>G
|
|
|
|
NM_000254.3(MTR):c.3205-7T>C
|
|
|
|
NM_000254.3(MTR):c.3205-8G>C
|
|
|
|
NM_000254.3(MTR):c.3205-9G>A
|
rs1666501324
|
|
|
NM_000254.3(MTR):c.3205-9G>T
|
|
|
|
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
|
|
|
|
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
|
|
|
|
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
|
|
|
|
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
|
|
|
|
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
|
|
|
|
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
|
|
|
|
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr)
|
rs1666504883
|
|
|
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
|
|
|
|
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
|
|
|
|
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
|
|
|
|
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
|
|
|
|
NM_000254.3(MTR):c.327C>T (p.Gly109=)
|
|
|
|
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
|
|
|
|
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
|
|
|
|
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
|
|
|
|
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu)
|
rs1221565565
|
|
|
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
|
|
|
|
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
|
|
|
|
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
|
|
|
|
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys)
|
rs1666509852
|
|
|
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
|
|
|
|
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
|
|
|
|
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
|
|
|
|
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
|
|
|
|
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
|
|
|
|
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
|
|
|
|
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
|
|
|
|
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln)
|
rs1305962485
|
|
|
NM_000254.3(MTR):c.33C>T (p.Pro11=)
|
|
|
|
NM_000254.3(MTR):c.34+11G>C
|
|
|
|
NM_000254.3(MTR):c.34+13C>T
|
|
|
|
NM_000254.3(MTR):c.34+14C>T
|
|
|
|
NM_000254.3(MTR):c.34+15C>T
|
|
|
|
NM_000254.3(MTR):c.34+16C>A
|
|
|
|
NM_000254.3(MTR):c.34+19C>T
|
|
|
|
NM_000254.3(MTR):c.34+2T>C
|
|
|
|
NM_000254.3(MTR):c.34+9G>A
|
|
|
|
NM_000254.3(MTR):c.340-166A>C
|
|
|
|
NM_000254.3(MTR):c.340-20G>A
|
|
|
|
NM_000254.3(MTR):c.3405+17G>A
|
|
|
|
NM_000254.3(MTR):c.3405+19G>A
|
|
|
|
NM_000254.3(MTR):c.3405+21del
|
|
|
|
NM_000254.3(MTR):c.3405+6_3405+33dup
|
|
|
|
NM_000254.3(MTR):c.3406-12T>C
|
|
|
|
NM_000254.3(MTR):c.3406-2A>G
|
|
|
|
NM_000254.3(MTR):c.3406-4C>T
|
|
|
|
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
|
|
|
|
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
|
|
|
|
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
|
|
|
|
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
|
|
|
|
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
|
|
|
|
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
|
|
|
|
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
|
|
|
|
NM_000254.3(MTR):c.349A>C (p.Met117Leu)
|
rs143180799
|
|
|
NM_000254.3(MTR):c.349A>G (p.Met117Val)
|
rs143180799
|
|
|
NM_000254.3(MTR):c.35-12C>T
|
|
|
|
NM_000254.3(MTR):c.35-14del
|
|
|
|
NM_000254.3(MTR):c.35-20A>G
|
|
|
|
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys)
|
rs756440911
|
|
|
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro)
|
rs778432496
|
|
|
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
|
|
|
|
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
|
|
|
|
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
|
|
|
|
NM_000254.3(MTR):c.3552C>G (p.Thr1184=)
|
rs760793648
|
|
|
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
|
|
|
|
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
|
|
|
|
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
|
|
|
|
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
|
|
|
|
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
|
|
|
|
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
|
|
|
|
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
|
|
|
|
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro)
|
rs2147955084
|
|
|
NM_000254.3(MTR):c.3598+13A>C
|
|
|
|
NM_000254.3(MTR):c.3598+18G>A
|
|
|
|
NM_000254.3(MTR):c.3598+19C>T
|
|
|
|
NM_000254.3(MTR):c.3598+20G>A
|
|
|
|
NM_000254.3(MTR):c.3599-14G>A
|
|
|
|
NM_000254.3(MTR):c.3599-14G>C
|
|
|
|
NM_000254.3(MTR):c.3599-17T>C
|
|
|
|
NM_000254.3(MTR):c.3599-4C>T
|
|
|
|
NM_000254.3(MTR):c.3599-5T>C
|
|
|
|
NM_000254.3(MTR):c.3599-6C>G
|
rs2147960863
|
|
|
NM_000254.3(MTR):c.3599-8C>T
|
|
|
|
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
|
|
|
|
NM_000254.3(MTR):c.3600del (p.Ile1201fs)
|
rs1346847201
|
|
|
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter)
|
rs121913581
|
|
|
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
|
|
|
|
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
|
|
|
|
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg)
|
rs777562650
|
|
|
NM_000254.3(MTR):c.3678A>G (p.Lys1226=)
|
rs2147961173
|
|
|
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
|
|
|
|
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
|
|
|
|
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
|
|
|
|
NM_000254.3(MTR):c.3711+10C>A
|
|
|
|
NM_000254.3(MTR):c.3711+10C>T
|
|
|
|
NM_000254.3(MTR):c.3711+15del
|
|
|
|
NM_000254.3(MTR):c.3711+20A>G
|
|
|
|
NM_000254.3(MTR):c.3711+22_3711+23del
|
|
|
|
NM_000254.3(MTR):c.3712-4G>A
|
|
|
|
NM_000254.3(MTR):c.3712-5del
|
|
|
|
NM_000254.3(MTR):c.3712-9C>A
|
|
|
|
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp)
|
rs2147965312
|
|
|
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
|
|
|
|
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
|
|
|
|
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
|
|
|
|
NM_000254.3(MTR):c.375C>T (p.Ala125=)
|
|
|
|
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
|
|
|
|
NM_000254.3(MTR):c.381del (p.Ala128fs)
|
|
|
|
NM_000254.3(MTR):c.387C>A (p.Ala129=)
|
|
|
|
NM_000254.3(MTR):c.387C>T (p.Ala129=)
|
rs575706892
|
|
|
NM_000254.3(MTR):c.399T>C (p.Thr133=)
|
|
|
|
NM_000254.3(MTR):c.402C>T (p.Leu134=)
|
|
|
|
NM_000254.3(MTR):c.409+14T>G
|
|
|
|
NM_000254.3(MTR):c.409+15_409+17del
|
rs750828089
|
|
|
NM_000254.3(MTR):c.409+17T>C
|
|
|
|
NM_000254.3(MTR):c.409+25dup
|
|
|
|
NM_000254.3(MTR):c.426G>C (p.Val142=)
|
|
|
|
NM_000254.3(MTR):c.447T>A (p.Thr149=)
|
|
|
|
NM_000254.3(MTR):c.452A>G (p.Lys151Arg)
|
rs2103039190
|
|
|
NM_000254.3(MTR):c.468C>T (p.Ser156=)
|
|
|
|
NM_000254.3(MTR):c.471A>G (p.Pro157=)
|
rs931152176
|
|
|
NM_000254.3(MTR):c.471A>T (p.Pro157=)
|
|
|
|
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
|
|
|
|
NM_000254.3(MTR):c.502+14A>G
|
|
|
|
NM_000254.3(MTR):c.502+16A>C
|
|
|
|
NM_000254.3(MTR):c.502+21_502+24dup
|
|
|
|
NM_000254.3(MTR):c.503-14T>C
|
|
|
|
NM_000254.3(MTR):c.503-15A>T
|
|
|
|
NM_000254.3(MTR):c.503-2A>G
|
|
|
|
NM_000254.3(MTR):c.504A>C (p.Thr168=)
|
|
|
|
NM_000254.3(MTR):c.504A>G (p.Thr168=)
|
|
|
|
NM_000254.3(MTR):c.507T>C (p.Phe169=)
|
|
|
|
NM_000254.3(MTR):c.510T>C (p.Asp170=)
|
|
|
|
NM_000254.3(MTR):c.546A>G (p.Gly182=)
|
|
|
|
NM_000254.3(MTR):c.573dup (p.Leu192fs)
|
|
|
|
NM_000254.3(MTR):c.606C>T (p.Ala202=)
|
|
|
|
NM_000254.3(MTR):c.609+1088G>A
|
rs752526782
|
|
|
NM_000254.3(MTR):c.609+14G>C
|
|
|
|
NM_000254.3(MTR):c.609+14G>T
|
|
|
|
NM_000254.3(MTR):c.609+16A>G
|
|
|
|
NM_000254.3(MTR):c.609+20dup
|
|
|
|
NM_000254.3(MTR):c.610-10del
|
|
|
|
NM_000254.3(MTR):c.610-12T>C
|
|
|
|
NM_000254.3(MTR):c.610-1_613dup
|
|
|
|
NM_000254.3(MTR):c.610-6T>C
|
rs769743026
|
|
|
NM_000254.3(MTR):c.610-6T>G
|
|
|
|
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
|
|
|
|
NM_000254.3(MTR):c.617del (p.Leu206fs)
|
|
|
|
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
|
|
|
|
NM_000254.3(MTR):c.627C>A (p.Leu209=)
|
|
|
|
NM_000254.3(MTR):c.630A>G (p.Gln210=)
|
|
|
|
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
|
|
|
|
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
|
|
|
|
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
|
|
|
|
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
|
|
|
|
NM_000254.3(MTR):c.660G>A (p.Arg220=)
|
|
|
|
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
|
|
|
|
NM_000254.3(MTR):c.669+12dup
|
|
|
|
NM_000254.3(MTR):c.670-11T>C
|
|
|
|
NM_000254.3(MTR):c.670-20T>C
|
|
|
|
NM_000254.3(MTR):c.670-20T>G
|
|
|
|
NM_000254.3(MTR):c.681G>A (p.Thr227=)
|
|
|
|
NM_000254.3(MTR):c.684C>A (p.Ile228=)
|
|
|
|
NM_000254.3(MTR):c.699G>A (p.Gly233=)
|
|
|
|
NM_000254.3(MTR):c.6A>G (p.Ser2=)
|
|
|
|
NM_000254.3(MTR):c.702G>A (p.Arg234=)
|
|
|
|
NM_000254.3(MTR):c.726G>A (p.Glu242=)
|
|
|
|
NM_000254.3(MTR):c.741C>T (p.Ser247=)
|
|
|
|
NM_000254.3(MTR):c.742G>A (p.Val248Met)
|
rs142648132
|
|
|
NM_000254.3(MTR):c.750T>C (p.His250=)
|
|
|
|
NM_000254.3(MTR):c.761T>A (p.Leu254His)
|
rs2103062352
|
|
|
NM_000254.3(MTR):c.764+7G>A
|
|
|
|
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
|
|
|
|
NM_000254.3(MTR):c.765-12C>G
|
|
|
|
NM_000254.3(MTR):c.765-13dup
|
|
|
|
NM_000254.3(MTR):c.765-4C>T
|
|
|
|
NM_000254.3(MTR):c.765-5T>C
|
|
|
|
NM_000254.3(MTR):c.786G>A (p.Leu262=)
|
|
|
|
NM_000254.3(MTR):c.792A>G (p.Ala264=)
|
|
|
|
NM_000254.3(MTR):c.80A>G (p.Gln27Arg)
|
rs1039659576
|
|
|
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
|
NM_000254.3(MTR):c.834A>G (p.Thr278=)
|
|
|
|
NM_000254.3(MTR):c.865+10T>C
|
|
|
|
NM_000254.3(MTR):c.865+12A>G
|
rs2103095649
|
|
|
NM_000254.3(MTR):c.865+18G>T
|
|
|
|
NM_000254.3(MTR):c.865+18dup
|
|
|
|
NM_000254.3(MTR):c.865+1GT[3]
|
rs2103095576
|
|
|
NM_000254.3(MTR):c.865+7G>T
|
|
|
|
NM_000254.3(MTR):c.866-13T>G
|
|
|
|
NM_000254.3(MTR):c.866-16A>C
|
|
|
|
NM_000254.3(MTR):c.866-2A>C
|
|
|
|
NM_000254.3(MTR):c.866-6T>C
|
|
|
|
NM_000254.3(MTR):c.866-8T>C
|
|
|
|
NM_000254.3(MTR):c.873C>G (p.Pro291=)
|
|
|
|
NM_000254.3(MTR):c.877A>G (p.Thr293Ala)
|
rs2103101092
|
|
|
NM_000254.3(MTR):c.879C>T (p.Thr293=)
|
|
|
|
NM_000254.3(MTR):c.888C>T (p.Asp296=)
|
|
|
|
NM_000254.3(MTR):c.894T>C (p.Asp298=)
|
|
|
|
NM_000254.3(MTR):c.899dup (p.Pro301fs)
|
|
|
|
NM_000254.3(MTR):c.900G>A (p.Thr300=)
|
|
|
|
NM_000254.3(MTR):c.901C>T (p.Pro301Ser)
|
rs766371534
|
|
|
NM_000254.3(MTR):c.906T>C (p.Ser302=)
|
|
|
|
NM_000254.3(MTR):c.907A>G (p.Met303Val)
|
|
|
|
NM_000254.3(MTR):c.915C>T (p.Ala305=)
|
|
|
|
NM_000254.3(MTR):c.920dup (p.His307fs)
|
|
|
|
NM_000254.3(MTR):c.924A>G (p.Leu308=)
|
|
|
|
NM_000254.3(MTR):c.927+10C>A
|
|
|
|
NM_000254.3(MTR):c.927+11C>A
|
|
|
|
NM_000254.3(MTR):c.927+14dup
|
|
|
|
NM_000254.3(MTR):c.927+18C>G
|
|
|
|
NM_000254.3(MTR):c.927+1G>A
|
|
|
|
NM_000254.3(MTR):c.927+1G>C
|
rs1572218599
|
|
|
NM_000254.3(MTR):c.927+20C>T
|
|
|
|
NM_000254.3(MTR):c.927+20del
|
|
|
|
NM_000254.3(MTR):c.927+7G>A
|
|
|
|
NM_000254.3(MTR):c.928-18G>A
|
|
|
|
NM_000254.3(MTR):c.928-19T>G
|
|
|
|
NM_000254.3(MTR):c.928-9T>A
|
|
|
|
NM_000254.3(MTR):c.963A>C (p.Gly321=)
|
|
|
|
NM_000254.3(MTR):c.975G>A (p.Gly325=)
|
|
|
|
NM_000254.3(MTR):c.981A>C (p.Thr327=)
|
|
|
|
NM_000254.3(MTR):c.984A>G (p.Pro328=)
|
|
|
|
NM_000254.3(MTR):c.987T>C (p.Asp329=)
|
|
|
|
NM_000254.3(MTR):c.995+14A>G
|
|
|
|
NM_000254.3(MTR):c.995+19C>T
|
|
|
|
NM_000254.3(MTR):c.996-12C>T
|
|
|
|
NM_000254.3(MTR):c.996-14C>T
|
|
|
|
NM_000254.3(MTR):c.99G>A (p.Leu33=)
|
|
|
|
NM_000254.3(MTR):c.9C>T (p.Pro3=)
|
rs201975748
|
|
|
NM_000255.4(MMUT):c.1885dup (p.Arg629fs)
|
rs1561952122
|
|
|
NM_000255.4(MMUT):c.2196_2197insCGGCA (p.Val733fs)
|
rs1766985866
|
|
|
NM_000274.4(OAT):c.1001dup (p.Ala335fs)
|
rs2134452962
|
|
|
NM_000274.4(OAT):c.1003G>T (p.Ala335Ser)
|
rs751075605
|
|
|
NM_000274.4(OAT):c.1008C>T (p.Ala336=)
|
|
|
|
NM_000274.4(OAT):c.1014+14C>G
|
|
|
|
NM_000274.4(OAT):c.1014+16G>A
|
|
|
|
NM_000274.4(OAT):c.1014+19A>C
|
|
|
|
NM_000274.4(OAT):c.1014+19A>G
|
|
|
|
NM_000274.4(OAT):c.1014+1G>A
|
rs1951414426
|
|
|
NM_000274.4(OAT):c.1014+6G>A
|
|
|
|
NM_000274.4(OAT):c.1014+8C>T
|
|
|
|
NM_000274.4(OAT):c.1014G>A (p.Glu338=)
|
|
|
|
NM_000274.4(OAT):c.1015-18A>C
|
|
|
|
NM_000274.4(OAT):c.1015-4G>A
|
rs1312077418
|
|
|
NM_000274.4(OAT):c.1015-4G>C
|
rs1312077418
|
|
|
NM_000274.4(OAT):c.1015-4G>T
|
|
|
|
NM_000274.4(OAT):c.1015-6A>C
|
rs561800688
|
|
|
NM_000274.4(OAT):c.1015-6del
|
|
|
|
NM_000274.4(OAT):c.1015-9dup
|
|
|
|
NM_000274.4(OAT):c.1017T>C (p.Val339=)
|
rs2134450954
|
|
|
NM_000274.4(OAT):c.1027G>C (p.Glu343Gln)
|
rs1951391727
|
|
|
NM_000274.4(OAT):c.102C>A (p.Val34=)
|
rs2134491030
|
|
|
NM_000274.4(OAT):c.102C>T (p.Val34=)
|
|
|
|
NM_000274.4(OAT):c.1032C>T (p.Asn344=)
|
rs2134450878
|
|
|
NM_000274.4(OAT):c.1035T>A (p.Leu345=)
|
rs1951391200
|
|
|
NM_000274.4(OAT):c.1035T>C (p.Leu345=)
|
rs1951391200
|
|
|
NM_000274.4(OAT):c.1036G>A (p.Ala346Thr)
|
|
|
|
NM_000274.4(OAT):c.1039G>A (p.Glu347Lys)
|
rs2134450837
|
|
|
NM_000274.4(OAT):c.1050C>T (p.Asp350=)
|
rs2134450807
|
|
|
NM_000274.4(OAT):c.1053A>G (p.Lys351=)
|
rs757483886
|
|
|
NM_000274.4(OAT):c.1055T>C (p.Leu352Ser)
|
|
|
|
NM_000274.4(OAT):c.1056G>C (p.Leu352Phe)
|
rs766145396
|
|
|
NM_000274.4(OAT):c.1073A>G (p.Asn358Ser)
|
|
|
|
NM_000274.4(OAT):c.1076A>G (p.Glu359Gly)
|
|
|
|
NM_000274.4(OAT):c.1077A>G (p.Glu359=)
|
rs2134450629
|
|
|
NM_000274.4(OAT):c.1078del (p.Leu360fs)
|
rs1951389692
|
|
|
NM_000274.4(OAT):c.1080C>G (p.Leu360=)
|
|
|
|
NM_000274.4(OAT):c.1084A>G (p.Lys362Glu)
|
rs2134450586
|
|
|
NM_000274.4(OAT):c.1089A>T (p.Leu363=)
|
rs1589697490
|
|
|
NM_000274.4(OAT):c.108C>T (p.Gly36=)
|
rs2134490957
|
|
|
NM_000274.4(OAT):c.109C>G (p.Pro37Ala)
|
|
|
|
NM_000274.4(OAT):c.1104A>G (p.Val368=)
|
|
|
|
NM_000274.4(OAT):c.1111G>A (p.Val371Ile)
|
|
|
|
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)
|
rs386833595
|
|
|
NM_000274.4(OAT):c.111T>C (p.Pro37=)
|
|
|
|
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala)
|
rs121965045
|
|
|
NM_000274.4(OAT):c.1125A>G (p.Gly375=)
|
rs1589697304
|
|
|
NM_000274.4(OAT):c.1126T>C (p.Leu376=)
|
rs2134450338
|
|
|
NM_000274.4(OAT):c.112C>T (p.Pro38Ser)
|
|
|
|
NM_000274.4(OAT):c.1137T>C (p.Ala379=)
|
rs1390940241
|
|
|
NM_000274.4(OAT):c.1138A>G (p.Ile380Val)
|
rs545710763
|
|
|
NM_000274.4(OAT):c.1140del (p.Ile380fs)
|
|
|
|
NM_000274.4(OAT):c.114A>G (p.Pro38=)
|
|
|
|
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter)
|
rs1285313333
|
|
|
NM_000274.4(OAT):c.1155C>A (p.Thr385=)
|
rs2134450152
|
|
|
NM_000274.4(OAT):c.1155C>T (p.Thr385=)
|
|
|
|
NM_000274.4(OAT):c.1159+10T>G
|
rs1589697164
|
|
|
NM_000274.4(OAT):c.1159+15C>T
|
|
|
|
NM_000274.4(OAT):c.1159+16A>C
|
|
|
|
NM_000274.4(OAT):c.1159+1G>A
|
rs2134450136
|
|
|
NM_000274.4(OAT):c.1159+2_1159+3insAAAGAAACCAAAGGTGTGCTCAATGGTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCGCTACAACCACCTCCCAGCCGCCTGCCTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_000274.4(OAT):c.1159G>C (p.Asp387His)
|
|
|
|
NM_000274.4(OAT):c.1160-13T>C
|
|
|
|
NM_000274.4(OAT):c.1160-15A>G
|
|
|
|
NM_000274.4(OAT):c.1160-16T>A
|
rs2134440750
|
|
|
NM_000274.4(OAT):c.1160-20G>A
|
|
|
|
NM_000274.4(OAT):c.1160-43_1160-15del
|
|
|
|
NM_000274.4(OAT):c.1160-6del
|
rs2134440702
|
|
|
NM_000274.4(OAT):c.1160A>G (p.Asp387Gly)
|
|
|
|
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter)
|
rs2134440659
|
|
|
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
|
|
|
|
NM_000274.4(OAT):c.116C>T (p.Thr39Ile)
|
rs754764229
|
|
|
NM_000274.4(OAT):c.1179G>A (p.Val393=)
|
|
|
|
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs)
|
rs2134440572
|
|
|
NM_000274.4(OAT):c.1184T>G (p.Leu395Arg)
|
rs2134440552
|
|
|
NM_000274.4(OAT):c.1186C>A (p.Arg396=)
|
rs121965036
|
|
|
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)
|
rs121965036
|
|
|
NM_000274.4(OAT):c.1187G>T (p.Arg396Leu)
|
|
|
|
NM_000274.4(OAT):c.1188A>G (p.Arg396=)
|
rs2134440491
|
|
|
NM_000274.4(OAT):c.1198A>T (p.Asn400Tyr)
|
rs2134440441
|
|
|
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)
|
rs121965055
|
|
|
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)
|
rs121965043
|
|
|
NM_000274.4(OAT):c.1212C>G (p.Ala404=)
|
rs2134440359
|
|
|
NM_000274.4(OAT):c.1215G>A (p.Lys405=)
|
|
|
|
NM_000274.4(OAT):c.1221C>G (p.Thr407=)
|
|
|
|
NM_000274.4(OAT):c.1222C>G (p.His408Asp)
|
|
|
|
NM_000274.4(OAT):c.1227C>A (p.Gly409=)
|
|
|
|
NM_000274.4(OAT):c.1227C>G (p.Gly409=)
|
|
|
|
NM_000274.4(OAT):c.1230C>T (p.Asp410=)
|
|
|
|
NM_000274.4(OAT):c.1231A>G (p.Ile411Val)
|
|
|
|
NM_000274.4(OAT):c.123T>C (p.Asp41=)
|
rs376051303
|
|
|
NM_000274.4(OAT):c.124G>A (p.Asp42Asn)
|
rs2134490858
|
|
|
NM_000274.4(OAT):c.1252C>T (p.Leu418=)
|
|
|
|
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer)
|
rs2134440057
|
|
|
NM_000274.4(OAT):c.1254G>A (p.Leu418=)
|
|
|
|
NM_000274.4(OAT):c.126C>T (p.Asp42=)
|
|
|
|
NM_000274.4(OAT):c.1272G>T (p.Glu424Asp)
|
rs1170702129
|
|
|
NM_000274.4(OAT):c.1276C>A (p.Arg426=)
|
|
|
|
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)
|
rs121965058
|
|
|
NM_000274.4(OAT):c.1281G>A (p.Glu427=)
|
rs1589692099
|
|
|
NM_000274.4(OAT):c.1284C>G (p.Ser428=)
|
|
|
|
NM_000274.4(OAT):c.1284C>T (p.Ser428=)
|
rs762294532
|
|
|
NM_000274.4(OAT):c.1285A>G (p.Ile429Val)
|
|
|
|
NM_000274.4(OAT):c.1293T>A (p.Ile431=)
|
rs2134439830
|
|
|
NM_000274.4(OAT):c.1294A>T (p.Ile432Phe)
|
|
|
|
NM_000274.4(OAT):c.1299C>T (p.Asn433=)
|
|
|
|
NM_000274.4(OAT):c.1300A>G (p.Lys434Glu)
|
|
|
|
NM_000274.4(OAT):c.1301A>C (p.Lys434Thr)
|
rs2134439801
|
|
|
NM_000274.4(OAT):c.1305C>A (p.Thr435=)
|
rs528039246
|
|
|
NM_000274.4(OAT):c.1305C>T (p.Thr435=)
|
rs528039246
|
|
|
NM_000274.4(OAT):c.1309T>C (p.Leu437=)
|
|
|
|
NM_000274.4(OAT):c.1311G>A (p.Leu437=)
|
rs1800456
|
|
|
NM_000274.4(OAT):c.1312T>A (p.Ser438Thr)
|
|
|
|
NM_000274.4(OAT):c.1314T>C (p.Ser438=)
|
|
|
|
NM_000274.4(OAT):c.1320A>G (p.Ter440Trp)
|
rs2134439693
|
|
|
NM_000274.4(OAT):c.141A>G (p.Glu47=)
|
|
|
|
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
|
|
|
|
NM_000274.4(OAT):c.158A>G (p.His53Arg)
|
|
|
|
NM_000274.4(OAT):c.159C>T (p.His53=)
|
|
|
|
NM_000274.4(OAT):c.159del (p.His53fs)
|
rs386833599
|
|
|
NM_000274.4(OAT):c.162C>T (p.Asn54=)
|
|
|
|
NM_000274.4(OAT):c.174A>G (p.Leu58=)
|
rs1383903514
|
|
|
NM_000274.4(OAT):c.175C>T (p.Pro59Ser)
|
|
|
|
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
|
|
|
|
NM_000274.4(OAT):c.192A>G (p.Arg64=)
|
rs1329587046
|
|
|
NM_000274.4(OAT):c.192_193del (p.Gly65fs)
|
rs386833600
|
|
|
NM_000274.4(OAT):c.198_199+6delinsTTAA
|
rs1554867698
|
|
|
NM_000274.4(OAT):c.198del (p.Gly67fs)
|
rs1432416419
|
|
|
NM_000274.4(OAT):c.199+11_199+16dup
|
rs201396618
|
|
|
NM_000274.4(OAT):c.199+17T>C
|
|
|
|
NM_000274.4(OAT):c.199+18C>T
|
|
|
|
NM_000274.4(OAT):c.199+19C>A
|
|
|
|
NM_000274.4(OAT):c.199+20G>T
|
rs746812237
|
|
|
NM_000274.4(OAT):c.199+20del
|
|
|
|
NM_000274.4(OAT):c.199+4C>T
|
rs373425479
|
|
|
NM_000274.4(OAT):c.199+5G>A
|
rs1564739598
|
|
|
NM_000274.4(OAT):c.199+8T>A
|
|
|
|
NM_000274.4(OAT):c.199+9C>A
|
|
|
|
NM_000274.4(OAT):c.1A>G (p.Met1Val)
|
rs1283361732
|
|
|
NM_000274.4(OAT):c.1del (p.Met1fs)
|
|
|
|
NM_000274.4(OAT):c.200-13T>A
|
|
|
|
NM_000274.4(OAT):c.200-14del
|
rs2134479102
|
|
|
NM_000274.4(OAT):c.200-36_222del
|
rs1564737136
|
|
|
NM_000274.4(OAT):c.200-6T>C
|
|
|
|
NM_000274.4(OAT):c.210A>G (p.Leu70=)
|
rs2134478994
|
|
|
NM_000274.4(OAT):c.219A>C (p.Val73=)
|
|
|
|
NM_000274.4(OAT):c.228A>G (p.Arg76=)
|
|
|
|
NM_000274.4(OAT):c.240C>T (p.Asp80=)
|
rs2134478924
|
|
|
NM_000274.4(OAT):c.24G>A (p.Leu8=)
|
rs1383131322
|
|
|
NM_000274.4(OAT):c.258T>C (p.Ser86=)
|
|
|
|
NM_000274.4(OAT):c.267C>T (p.Asn89=)
|
|
|
|
NM_000274.4(OAT):c.268C>G (p.Gln90Glu)
|
rs121965060
|
|
|
NM_000274.4(OAT):c.272G>A (p.Gly91Glu)
|
rs386833603
|
|
|
NM_000274.4(OAT):c.276T>C (p.His92=)
|
|
|
|
NM_000274.4(OAT):c.285C>T (p.Pro95=)
|
|
|
|
NM_000274.4(OAT):c.296A>G (p.Asn99Ser)
|
|
|
|
NM_000274.4(OAT):c.297T>C (p.Asn99=)
|
rs530768910
|
|
|
NM_000274.4(OAT):c.300T>C (p.Ala100=)
|
rs2134478568
|
|
|
NM_000274.4(OAT):c.301C>T (p.Leu101=)
|
rs2134478556
|
|
|
NM_000274.4(OAT):c.304_305del (p.Lys102fs)
|
rs2134478524
|
|
|
NM_000274.4(OAT):c.307A>G (p.Ser103Gly)
|
rs2134478495
|
|
|
NM_000274.4(OAT):c.312A>G (p.Gln104=)
|
|
|
|
NM_000274.4(OAT):c.315G>C (p.Val105=)
|
rs780286690
|
|
|
NM_000274.4(OAT):c.336T>C (p.Ser112=)
|
rs2134478347
|
|
|
NM_000274.4(OAT):c.33T>C (p.Phe11=)
|
|
|
|
NM_000274.4(OAT):c.34G>T (p.Ala12Ser)
|
|
|
|
NM_000274.4(OAT):c.360T>C (p.Leu120=)
|
|
|
|
NM_000274.4(OAT):c.384T>C (p.Thr128=)
|
|
|
|
NM_000274.4(OAT):c.391T>C (p.Phe131Leu)
|
rs2134478077
|
|
|
NM_000274.4(OAT):c.395A>G (p.Asn132Ser)
|
|
|
|
NM_000274.4(OAT):c.3G>A (p.Met1Ile)
|
rs121965034
|
|
|
NM_000274.4(OAT):c.401A>G (p.His134Arg)
|
rs1217397711
|
|
|
NM_000274.4(OAT):c.402C>T (p.His134=)
|
|
|
|
NM_000274.4(OAT):c.413C>T (p.Pro138Leu)
|
rs1951673489
|
|
|
NM_000274.4(OAT):c.414T>C (p.Pro138=)
|
|
|
|
NM_000274.4(OAT):c.424+1G>A
|
|
|
|
NM_000274.4(OAT):c.424+6dup
|
rs2134477923
|
|
|
NM_000274.4(OAT):c.424+8A>G
|
rs2134477909
|
|
|
NM_000274.4(OAT):c.425-11T>C
|
|
|
|
NM_000274.4(OAT):c.425-20A>G
|
|
|
|
NM_000274.4(OAT):c.425-4A>G
|
|
|
|
NM_000274.4(OAT):c.425-5G>T
|
rs2134477497
|
|
|
NM_000274.4(OAT):c.426del (p.Val143fs)
|
|
|
|
NM_000274.4(OAT):c.427G>T (p.Val143Leu)
|
rs2134477473
|
|
|
NM_000274.4(OAT):c.435T>C (p.Ala145=)
|
rs764910542
|
|
|
NM_000274.4(OAT):c.435T>G (p.Ala145=)
|
rs764910542
|
|
|
NM_000274.4(OAT):c.437G>T (p.Gly146Val)
|
rs1951668263
|
|
|
NM_000274.4(OAT):c.442A>T (p.Thr148Ser)
|
|
|
|
NM_000274.4(OAT):c.447C>A (p.Ala149=)
|
rs1951667717
|
|
|
NM_000274.4(OAT):c.44G>T (p.Ser15Ile)
|
|
|
|
NM_000274.4(OAT):c.460C>T (p.Arg154Cys)
|
|
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
|
NM_000274.4(OAT):c.465G>A (p.Lys155=)
|
|
|
|
NM_000274.4(OAT):c.466T>A (p.Trp156Arg)
|
|
|
|
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
|
|
|
|
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)
|
rs386833611
|
|
|
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)
|
|
|
|
NM_000274.4(OAT):c.478G>C (p.Val160Leu)
|
|
|
|
NM_000274.4(OAT):c.47G>A (p.Arg16His)
|
|
|
|
NM_000274.4(OAT):c.480G>A (p.Val160=)
|
rs2134477131
|
|
|
NM_000274.4(OAT):c.483G>A (p.Lys161=)
|
|
|
|
NM_000274.4(OAT):c.48C>A (p.Arg16=)
|
rs143526711
|
|
|
NM_000274.4(OAT):c.48C>G (p.Arg16=)
|
|
|
|
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
|
|
|
|
NM_000274.4(OAT):c.49G>C (p.Gly17Arg)
|
rs760716065
|
|
|
NM_000274.4(OAT):c.49_52dup (p.Val18fs)
|
rs1554867854
|
|
|
NM_000274.4(OAT):c.500A>C (p.Lys167Thr)
|
|
|
|
NM_000274.4(OAT):c.501A>G (p.Lys167=)
|
rs1951665213
|
|
|
NM_000274.4(OAT):c.504A>C (p.Ala168=)
|
rs138591022
|
|
|
NM_000274.4(OAT):c.504A>G (p.Ala168=)
|
rs138591022
|
|
|
NM_000274.4(OAT):c.511G>A (p.Val171Ile)
|
rs1951664964
|
|
|
NM_000274.4(OAT):c.515T>C (p.Phe172Ser)
|
|
|
|
NM_000274.4(OAT):c.515_516del (p.Phe172fs)
|
rs2134476898
|
|
|
NM_000274.4(OAT):c.516T>C (p.Phe172=)
|
rs2134476880
|
|
|
NM_000274.4(OAT):c.519A>G (p.Ala173=)
|
rs2134476827
|
|
|
NM_000274.4(OAT):c.520+17A>G
|
|
|
|
NM_000274.4(OAT):c.520+1G>T
|
rs2134476814
|
|
|
NM_000274.4(OAT):c.520+4T>C
|
|
|
|
NM_000274.4(OAT):c.521-15_521-12del
|
rs376636397
|
|
|
NM_000274.4(OAT):c.521-6T>G
|
rs369018496
|
|
|
NM_000274.4(OAT):c.521-9C>T
|
|
|
|
NM_000274.4(OAT):c.525del (p.Asn176fs)
|
|
|
|
NM_000274.4(OAT):c.531C>T (p.Phe177=)
|
|
|
|
NM_000274.4(OAT):c.533G>A (p.Trp178Ter)
|
rs267606923
|
|
|
NM_000274.4(OAT):c.533G>T (p.Trp178Leu)
|
rs267606923
|
|
|
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)
|
rs386833612
|
|
|
NM_000274.4(OAT):c.534G>A (p.Trp178Ter)
|
rs890106099
|
|
|
NM_000274.4(OAT):c.538A>C (p.Arg180=)
|
rs2134465732
|
|
|
NM_000274.4(OAT):c.542C>T (p.Thr181Met)
|
rs386833613
|
|
|
NM_000274.4(OAT):c.543G>T (p.Thr181=)
|
|
|
|
NM_000274.4(OAT):c.548C>G (p.Ser183Cys)
|
rs2134465660
|
|
|
NM_000274.4(OAT):c.558C>T (p.Ser186=)
|
rs1589705355
|
|
|
NM_000274.4(OAT):c.561T>C (p.Ser187=)
|
|
|
|
NM_000274.4(OAT):c.565A>G (p.Thr189Ala)
|
|
|
|
NM_000274.4(OAT):c.567A>G (p.Thr189=)
|
rs2134465525
|
|
|
NM_000274.4(OAT):c.573A>G (p.Pro191=)
|
|
|
|
NM_000274.4(OAT):c.576del (p.Ser193fs)
|
rs2134465433
|
|
|
NM_000274.4(OAT):c.578G>A (p.Ser193Asn)
|
|
|
|
NM_000274.4(OAT):c.583G>A (p.Asp195Asn)
|
rs386833614
|
|
|
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)
|
rs386833614
|
|
|
NM_000274.4(OAT):c.591dup (p.Gly198fs)
|
|
|
|
NM_000274.4(OAT):c.603G>T (p.Met201Ile)
|
|
|
|
NM_000274.4(OAT):c.604C>T (p.Pro202Ser)
|
|
|
|
NM_000274.4(OAT):c.605C>T (p.Pro202Leu)
|
|
|
|
NM_000274.4(OAT):c.612C>T (p.Phe204=)
|
rs750055546
|
|
|
NM_000274.4(OAT):c.613_614delinsAC (p.Asp205Thr)
|
|
|
|
NM_000274.4(OAT):c.614A>G (p.Asp205Gly)
|
rs375157197
|
|
|
NM_000274.4(OAT):c.619A>T (p.Ile207Phe)
|
|
|
|
NM_000274.4(OAT):c.624C>T (p.Pro208=)
|
rs2134465205
|
|
|
NM_000274.4(OAT):c.626A>G (p.Tyr209Cys)
|
rs2134465189
|
|
|
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)
|
rs121965056
|
|
|
NM_000274.4(OAT):c.627T>C (p.Tyr209=)
|
rs121965056
|
|
|
NM_000274.4(OAT):c.630T>C (p.Asn210=)
|
|
|
|
NM_000274.4(OAT):c.633T>C (p.Asp211=)
|
|
|
|
NM_000274.4(OAT):c.634C>T (p.Leu212=)
|
rs2134465097
|
|
|
NM_000274.4(OAT):c.636G>A (p.Leu212=)
|
|
|
|
NM_000274.4(OAT):c.63A>G (p.Ser21=)
|
|
|
|
NM_000274.4(OAT):c.640G>T (p.Ala214Ser)
|
rs1464097966
|
|
|
NM_000274.4(OAT):c.642A>G (p.Ala214=)
|
|
|
|
NM_000274.4(OAT):c.648+13C>T
|
|
|
|
NM_000274.4(OAT):c.648+13_648+14inv
|
|
|
|
NM_000274.4(OAT):c.648+19A>C
|
|
|
|
NM_000274.4(OAT):c.648+1G>A
|
rs1951546023
|
|
|
NM_000274.4(OAT):c.648+20G>A
|
|
|
|
NM_000274.4(OAT):c.648+20G>T
|
|
|
|
NM_000274.4(OAT):c.648+6T>G
|
rs1951545873
|
|
|
NM_000274.4(OAT):c.648+8A>C
|
rs1951545729
|
|
|
NM_000274.4(OAT):c.649-13G>A
|
|
|
|
NM_000274.4(OAT):c.649-14T>C
|
|
|
|
NM_000274.4(OAT):c.649-1G>C
|
rs551144161
|
|
|
NM_000274.4(OAT):c.649-5T>C
|
|
|
|
NM_000274.4(OAT):c.649-7T>A
|
rs773438111
|
|
|
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)
|
|
|
|
NM_000274.4(OAT):c.672G>C (p.Val224=)
|
rs2134460257
|
|
|
NM_000274.4(OAT):c.678G>A (p.Ala226=)
|
rs1305977647
|
|
|
NM_000274.4(OAT):c.678G>C (p.Ala226=)
|
rs1305977647
|
|
|
NM_000274.4(OAT):c.678G>T (p.Ala226=)
|
rs1305977647
|
|
|
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer)
|
rs2134460074
|
|
|
NM_000274.4(OAT):c.681C>T (p.Phe227=)
|
rs777909577
|
|
|
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)
|
|
|
|
NM_000274.4(OAT):c.710G>A (p.Gly237Asp)
|
rs386833616
|
|
|
NM_000274.4(OAT):c.711C>G (p.Gly237=)
|
rs941484898
|
|
|
NM_000274.4(OAT):c.712G>A (p.Val238Ile)
|
|
|
|
NM_000274.4(OAT):c.714T>A (p.Val238=)
|
|
|
|
NM_000274.4(OAT):c.717T>C (p.Val239=)
|
|
|
|
NM_000274.4(OAT):c.718G>A (p.Val240Ile)
|
rs777488833
|
|
|
NM_000274.4(OAT):c.723G>A (p.Pro241=)
|
|
|
|
NM_000274.4(OAT):c.723G>C (p.Pro241=)
|
rs765113522
|
|
|
NM_000274.4(OAT):c.748C>A (p.Arg250=)
|
rs386833617
|
|
|
NM_000274.4(OAT):c.753G>A (p.Glu251=)
|
rs1589702393
|
|
|
NM_000274.4(OAT):c.756C>T (p.Leu252=)
|
|
|
|
NM_000274.4(OAT):c.75T>C (p.Ala25=)
|
rs1199534913
|
|
|
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
|
|
|
|
NM_000274.4(OAT):c.771+10T>C
|
rs2134459550
|
|
|
NM_000274.4(OAT):c.771+13G>A
|
|
|
|
NM_000274.4(OAT):c.771+14C>G
|
|
|
|
NM_000274.4(OAT):c.771+18_771+21del
|
rs370661606
|
|
|
NM_000274.4(OAT):c.771+20G>A
|
|
|
|
NM_000274.4(OAT):c.771+2T>C
|
|
|
|
NM_000274.4(OAT):c.771+8C>G
|
rs113532454
|
|
|
NM_000274.4(OAT):c.771+8_771+10dup
|
|
|
|
NM_000274.4(OAT):c.771+9G>A
|
rs756798690
|
|
|
NM_000274.4(OAT):c.771_771+7del
|
rs1564731646
|
|
|
NM_000274.4(OAT):c.772-10del
|
|
|
|
NM_000274.4(OAT):c.772-17dup
|
rs778743727
|
|
|
NM_000274.4(OAT):c.772-1G>A
|
rs770390524
|
|
|
NM_000274.4(OAT):c.772-1G>T
|
rs770390524
|
|
|
NM_000274.4(OAT):c.772-20G>A
|
|
|
|
NM_000274.4(OAT):c.772-20del
|
|
|
|
NM_000274.4(OAT):c.772-5A>G
|
|
|
|
NM_000274.4(OAT):c.772-9C>T
|
|
|
|
NM_000274.4(OAT):c.773T>A (p.Val258Asp)
|
|
|
|
NM_000274.4(OAT):c.775C>G (p.Leu259Val)
|
rs1252853867
|
|
|
NM_000274.4(OAT):c.776del (p.Leu259fs)
|
rs2134456729
|
|
|
NM_000274.4(OAT):c.777C>T (p.Leu259=)
|
|
|
|
NM_000274.4(OAT):c.780del (p.Phe260fs)
|
rs2134456707
|
|
|
NM_000274.4(OAT):c.783del (p.Ile261fs)
|
rs1195885907
|
|
|
NM_000274.4(OAT):c.789T>C (p.Asp263=)
|
rs2134456663
|
|
|
NM_000274.4(OAT):c.792A>T (p.Glu264Asp)
|
rs1174503043
|
|
|
NM_000274.4(OAT):c.796C>A (p.Gln266Lys)
|
rs1951458291
|
|
|
NM_000274.4(OAT):c.807G>A (p.Leu269=)
|
rs2134456558
|
|
|
NM_000274.4(OAT):c.809C>T (p.Ala270Val)
|
rs2134456541
|
|
|
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)
|
rs121965042
|
|
|
NM_000274.4(OAT):c.819T>A (p.Gly273=)
|
rs2134456505
|
|
|
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)
|
rs267606924
|
|
|
NM_000274.4(OAT):c.834T>C (p.Val278=)
|
|
|
|
NM_000274.4(OAT):c.839A>G (p.Tyr280Cys)
|
|
|
|
NM_000274.4(OAT):c.840T>C (p.Tyr280=)
|
|
|
|
NM_000274.4(OAT):c.843A>G (p.Glu281=)
|
|
|
|
NM_000274.4(OAT):c.844A>C (p.Asn282His)
|
rs144131321
|
|
|
NM_000274.4(OAT):c.864C>G (p.Val288=)
|
rs1951455108
|
|
|
NM_000274.4(OAT):c.864C>T (p.Val288=)
|
|
|
|
NM_000274.4(OAT):c.867C>T (p.Leu289=)
|
rs2134456266
|
|
|
NM_000274.4(OAT):c.876G>A (p.Lys292=)
|
|
|
|
NM_000274.4(OAT):c.879C>T (p.Ala293=)
|
rs1951454400
|
|
|
NM_000274.4(OAT):c.881_900+51del
|
rs1951451290
|
|
|
NM_000274.4(OAT):c.886G>A (p.Gly296Arg)
|
rs1589700741
|
|
|
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)
|
rs2134456170
|
|
|
NM_000274.4(OAT):c.897C>T (p.Tyr299=)
|
|
|
|
NM_000274.4(OAT):c.900+10A>G
|
rs2134456121
|
|
|
NM_000274.4(OAT):c.900+12G>C
|
|
|
|
NM_000274.4(OAT):c.900+15C>A
|
|
|
|
NM_000274.4(OAT):c.900+1G>A
|
rs1589700702
|
|
|
NM_000274.4(OAT):c.900+20del
|
|
|
|
NM_000274.4(OAT):c.900+7T>C
|
rs2134456131
|
|
|
NM_000274.4(OAT):c.901-10T>C
|
rs376686600
|
|
|
NM_000274.4(OAT):c.901-10T>G
|
rs376686600
|
|
|
NM_000274.4(OAT):c.901-12A>T
|
rs1951421133
|
|
|
NM_000274.4(OAT):c.901-15T>C
|
|
|
|
NM_000274.4(OAT):c.901-1G>A
|
rs1951420329
|
|
|
NM_000274.4(OAT):c.901-20G>A
|
|
|
|
NM_000274.4(OAT):c.90T>G (p.Thr30=)
|
rs1250394805
|
|
|
NM_000274.4(OAT):c.911T>G (p.Val304Gly)
|
|
|
|
NM_000274.4(OAT):c.915G>A (p.Leu305=)
|
|
|
|
NM_000274.4(OAT):c.922G>A (p.Asp308Asn)
|
|
|
|
NM_000274.4(OAT):c.924T>C (p.Asp308=)
|
rs2134453379
|
|
|
NM_000274.4(OAT):c.927C>T (p.Asp309=)
|
rs2134453354
|
|
|
NM_000274.4(OAT):c.934C>A (p.Leu312Met)
|
|
|
|
NM_000274.4(OAT):c.93A>G (p.Lys31=)
|
rs1274789501
|
|
|
NM_000274.4(OAT):c.948A>C (p.Pro316=)
|
rs2134453303
|
|
|
NM_000274.4(OAT):c.952del (p.Glu318fs)
|
rs386833620
|
|
|
NM_000274.4(OAT):c.956A>G (p.His319Arg)
|
|
|
|
NM_000274.4(OAT):c.965C>T (p.Thr322Ile)
|
rs953827835
|
|
|
NM_000274.4(OAT):c.966A>G (p.Thr322=)
|
rs1951417723
|
|
|
NM_000274.4(OAT):c.966A>T (p.Thr322=)
|
rs1951417723
|
|
|
NM_000274.4(OAT):c.966del (p.Tyr323fs)
|
rs1951417940
|
|
|
NM_000274.4(OAT):c.96A>C (p.Lys32Asn)
|
rs978283946
|
|
|
NM_000274.4(OAT):c.97dup (p.Thr33fs)
|
rs1375779674
|
|
|
NM_000274.4(OAT):c.981A>T (p.Pro327=)
|
rs1365800165
|
|
|
NM_000274.4(OAT):c.982C>T (p.Leu328=)
|
|
|
|
NM_000274.4(OAT):c.984A>G (p.Leu328=)
|
rs755193146
|
|
|
NM_000274.4(OAT):c.986G>C (p.Gly329Ala)
|
|
|
|
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
|
|
|
|
NM_000274.4(OAT):c.992G>A (p.Arg331Gln)
|
|
|
|
NM_000274.4(OAT):c.992G>T (p.Arg331Leu)
|
rs201504751
|
|
|
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)
|
rs1556346316
|
|
|
NM_000276.4(OCRL):c.101A>G (p.Gln34Arg)
|
|
|
|
NM_000276.4(OCRL):c.1024G>T (p.Glu342Ter)
|
|
|
|
NM_000276.4(OCRL):c.1031T>C (p.Val344Ala)
|
|
|
|
NM_000276.4(OCRL):c.1056+19G>T
|
|
|
|
NM_000276.4(OCRL):c.1057-13C>A
|
|
|
|
NM_000276.4(OCRL):c.1057-19T>C
|
|
|
|
NM_000276.4(OCRL):c.1057-6T>G
|
|
|
|
NM_000276.4(OCRL):c.1057-7C>A
|
|
|
|
NM_000276.4(OCRL):c.1083A>G (p.Arg361=)
|
|
|
|
NM_000276.4(OCRL):c.1089A>G (p.Val363=)
|
|
|
|
NM_000276.4(OCRL):c.1095C>T (p.His365=)
|
|
|
|
NM_000276.4(OCRL):c.109G>A (p.Gly37Arg)
|
rs767054196
|
|
|
NM_000276.4(OCRL):c.109G>C (p.Gly37Arg)
|
rs767054196
|
|
|
NM_000276.4(OCRL):c.1110C>T (p.Cys370=)
|
|
|
|
NM_000276.4(OCRL):c.1113T>C (p.Ile371=)
|
|
|
|
NM_000276.4(OCRL):c.1122C>T (p.Ser374=)
|
|
|
|
NM_000276.4(OCRL):c.1128G>T (p.Leu376=)
|
|
|
|
NM_000276.4(OCRL):c.1139T>C (p.Val380Ala)
|
|
|
|
NM_000276.4(OCRL):c.114A>G (p.Gln38=)
|
|
|
|
NM_000276.4(OCRL):c.1155A>G (p.Arg385=)
|
|
|
|
NM_000276.4(OCRL):c.117T>C (p.Tyr39=)
|
|
|
|
NM_000276.4(OCRL):c.1185G>C (p.Ala395=)
|
|
|
|
NM_000276.4(OCRL):c.119+11A>G
|
|
|
|
NM_000276.4(OCRL):c.119+12C>T
|
|
|
|
NM_000276.4(OCRL):c.119+15G>C
|
|
|
|
NM_000276.4(OCRL):c.119+8dup
|
|
|
|
NM_000276.4(OCRL):c.120-17G>A
|
|
|
|
NM_000276.4(OCRL):c.120-4C>T
|
|
|
|
NM_000276.4(OCRL):c.120-5C>T
|
|
|
|
NM_000276.4(OCRL):c.1220C>G (p.Pro407Arg)
|
|
|
|
NM_000276.4(OCRL):c.1222C>T (p.Gln408Ter)
|
|
|
|
NM_000276.4(OCRL):c.1225T>C (p.Leu409=)
|
|
|
|
NM_000276.4(OCRL):c.1242T>C (p.His414=)
|
|
|
|
NM_000276.4(OCRL):c.1244+1338_1366del
|
|
|
|
NM_000276.4(OCRL):c.1244+13_1244+38del
|
rs1465814805
|
|
|
NM_000276.4(OCRL):c.1244+13_1244+41delinsAAA
|
rs2124406244
|
|
|
NM_000276.4(OCRL):c.1244+14T>C
|
|
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
|
NM_000276.4(OCRL):c.1244+20_1244+26dup
|
|
|
|
NM_000276.4(OCRL):c.1244+8G>T
|
|
|
|
NM_000276.4(OCRL):c.1245-10dup
|
|
|
|
NM_000276.4(OCRL):c.1245-18C>T
|
|
|
|
NM_000276.4(OCRL):c.1245-20T>G
|
|
|
|
NM_000276.4(OCRL):c.1245-7T>C
|
|
|
|
NM_000276.4(OCRL):c.1281T>C (p.Leu427=)
|
|
|
|
NM_000276.4(OCRL):c.129C>T (p.Ile43=)
|
|
|
|
NM_000276.4(OCRL):c.12G>C (p.Pro4=)
|
|
|
|
NM_000276.4(OCRL):c.1320T>C (p.Asn440=)
|
|
|
|
NM_000276.4(OCRL):c.1329C>T (p.Asp443=)
|
|
|
|
NM_000276.4(OCRL):c.1341C>G (p.Leu447=)
|
|
|
|
NM_000276.4(OCRL):c.1350C>T (p.Phe450=)
|
|
|
|
NM_000276.4(OCRL):c.1353C>T (p.Asp451=)
|
|
|
|
NM_000276.4(OCRL):c.1355A>G (p.Gln452Arg)
|
rs1936210819
|
|
|
NM_000276.4(OCRL):c.1356+17T>C
|
|
|
|
NM_000276.4(OCRL):c.1356+7A>G
|
|
|
|
NM_000276.4(OCRL):c.1357-10C>G
|
|
|
|
NM_000276.4(OCRL):c.1357-14C>T
|
|
|
|
NM_000276.4(OCRL):c.1359A>C (p.Leu453=)
|
|
|
|
NM_000276.4(OCRL):c.1367A>C (p.Gln456Pro)
|
rs1569460215
|
|
|
NM_000276.4(OCRL):c.1367A>G (p.Gln456Arg)
|
|
|
|
NM_000276.4(OCRL):c.1369C>T (p.Arg457Cys)
|
rs137853839
|
|
|
NM_000276.4(OCRL):c.1370G>C (p.Arg457Pro)
|
rs1602791150
|
|
|
NM_000276.4(OCRL):c.1374A>T (p.Thr458=)
|
|
|
|
NM_000276.4(OCRL):c.1380A>G (p.Lys460=)
|
|
|
|
NM_000276.4(OCRL):c.1386T>C (p.Ala462=)
|
|
|
|
NM_000276.4(OCRL):c.1389T>C (p.Phe463=)
|
|
|
|
NM_000276.4(OCRL):c.1391T>C (p.Val464Ala)
|
|
|
|
NM_000276.4(OCRL):c.1393G>C (p.Asp465His)
|
|
|
|
NM_000276.4(OCRL):c.1399A>T (p.Asn467Tyr)
|
|
|
|
NM_000276.4(OCRL):c.1419C>T (p.Phe473=)
|
|
|
|
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)
|
rs1602791255
|
|
|
NM_000276.4(OCRL):c.1449A>C (p.Thr483=)
|
|
|
|
NM_000276.4(OCRL):c.1454G>A (p.Arg485Gln)
|
|
|
|
NM_000276.4(OCRL):c.1454G>C (p.Arg485Pro)
|
rs993587899
|
|
|
NM_000276.4(OCRL):c.1466+12A>G
|
|
|
|
NM_000276.4(OCRL):c.1466+20C>T
|
|
|
|
NM_000276.4(OCRL):c.1467-11T>G
|
|
|
|
NM_000276.4(OCRL):c.1467-12_1467-9dup
|
|
|
|
NM_000276.4(OCRL):c.1467-16G>A
|
|
|
|
NM_000276.4(OCRL):c.1467-16del
|
|
|
|
NM_000276.4(OCRL):c.1467-3C>G
|
rs779822028
|
|
|
NM_000276.4(OCRL):c.1467-4dup
|
|
|
|
NM_000276.4(OCRL):c.1470G>A (p.Gly490=)
|
|
|
|
NM_000276.4(OCRL):c.1478G>A (p.Arg493Gln)
|
|
|
|
NM_000276.4(OCRL):c.1479G>A (p.Arg493=)
|
|
|
|
NM_000276.4(OCRL):c.1492T>C (p.Cys498Arg)
|
|
|
|
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)
|
rs137853260
|
|
|
NM_000276.4(OCRL):c.1513G>A (p.Gly505Arg)
|
|
|
|
NM_000276.4(OCRL):c.1514G>A (p.Gly505Glu)
|
rs1569460717
|
|
|
NM_000276.4(OCRL):c.1516A>G (p.Thr506Ala)
|
|
|
|
NM_000276.4(OCRL):c.1518A>G (p.Thr506=)
|
|
|
|
NM_000276.4(OCRL):c.1522G>A (p.Val508Ile)
|
|
|
|
NM_000276.4(OCRL):c.1526A>C (p.Asn509Thr)
|
|
|
|
NM_000276.4(OCRL):c.153T>A (p.His51Gln)
|
rs1392543051
|
|
|
NM_000276.4(OCRL):c.1541G>A (p.Arg514Gln)
|
|
|
|
NM_000276.4(OCRL):c.1566C>T (p.Ser522=)
|
|
|
|
NM_000276.4(OCRL):c.1571A>G (p.His524Arg)
|
rs137853852
|
|
|
NM_000276.4(OCRL):c.1576C>T (p.Pro526Ser)
|
rs886039518
|
|
|
NM_000276.4(OCRL):c.1577C>T (p.Pro526Leu)
|
rs137853858
|
|
|
NM_000276.4(OCRL):c.1584C>T (p.Ser528=)
|
|
|
|
NM_000276.4(OCRL):c.1595A>G (p.His532Arg)
|
|
|
|
NM_000276.4(OCRL):c.15C>G (p.Leu5=)
|
|
|
|
NM_000276.4(OCRL):c.1602+15G>T
|
|
|
|
NM_000276.4(OCRL):c.1602+17A>T
|
rs2124412959
|
|
|
NM_000276.4(OCRL):c.1602+1G>T
|
rs2124412937
|
|
|
NM_000276.4(OCRL):c.1602+5A>G
|
|
|
|
NM_000276.4(OCRL):c.1603-13C>T
|
|
|
|
NM_000276.4(OCRL):c.1603-20G>A
|
|
|
|
NM_000276.4(OCRL):c.1603-4T>C
|
|
|
|
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)
|
rs1182741031
|
|
|
NM_000276.4(OCRL):c.1626G>A (p.Arg542=)
|
|
|
|
NM_000276.4(OCRL):c.1631G>A (p.Arg544Gln)
|
|
|
|
NM_000276.4(OCRL):c.163A>G (p.Ile55Val)
|
|
|
|
NM_000276.4(OCRL):c.1653A>G (p.Val551=)
|
|
|
|
NM_000276.4(OCRL):c.1655G>A (p.Arg552His)
|
rs2124417872
|
|
|
NM_000276.4(OCRL):c.165C>A (p.Ile55=)
|
|
|
|
NM_000276.4(OCRL):c.1666A>C (p.Arg556=)
|
|
|
|
NM_000276.4(OCRL):c.1666A>G (p.Arg556Gly)
|
|
|
|
NM_000276.4(OCRL):c.1696G>T (p.Glu566Ter)
|
|
|
|
NM_000276.4(OCRL):c.1710G>A (p.Arg570=)
|
|
|
|
NM_000276.4(OCRL):c.1712del (p.Glu571fs)
|
|
|
|
NM_000276.4(OCRL):c.1713+1G>A
|
|
|
|
NM_000276.4(OCRL):c.1713+7A>G
|
|
|
|
NM_000276.4(OCRL):c.1714-10T>C
|
|
|
|
NM_000276.4(OCRL):c.1714-14C>T
|
|
|
|
NM_000276.4(OCRL):c.1714-17T>C
|
|
|
|
NM_000276.4(OCRL):c.1714-18C>G
|
|
|
|
NM_000276.4(OCRL):c.1714-18C>T
|
|
|
|
NM_000276.4(OCRL):c.1714-1G>A
|
rs794727182
|
|
|
NM_000276.4(OCRL):c.1714-4C>T
|
|
|
|
NM_000276.4(OCRL):c.1714-6C>T
|
|
|
|
NM_000276.4(OCRL):c.1714-7T>C
|
|
|
|
NM_000276.4(OCRL):c.1714-8T>C
|
|
|
|
NM_000276.4(OCRL):c.1714-9del
|
|
|
|
NM_000276.4(OCRL):c.1725A>G (p.Glu575=)
|
|
|
|
NM_000276.4(OCRL):c.1731G>A (p.Val577=)
|
|
|
|
NM_000276.4(OCRL):c.1739G>A (p.Arg580Gln)
|
|
|
|
NM_000276.4(OCRL):c.1753_1755del (p.Glu585del)
|
rs1936362098
|
|
|
NM_000276.4(OCRL):c.1754A>G (p.Glu585Gly)
|
|
|
|
NM_000276.4(OCRL):c.1758G>A (p.Lys586=)
|
|
|
|
NM_000276.4(OCRL):c.1764G>A (p.Gln588=)
|
|
|
|
NM_000276.4(OCRL):c.1775A>T (p.Asn592Ile)
|
|
|
|
NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)
|
|
|
|
NM_000276.4(OCRL):c.17C>G (p.Pro6Arg)
|
|
|
|
NM_000276.4(OCRL):c.17C>T (p.Pro6Leu)
|
|
|
|
NM_000276.4(OCRL):c.1812A>G (p.Lys604=)
|
|
|
|
NM_000276.4(OCRL):c.181C>T (p.His61Tyr)
|
rs2124388046
|
|
|
NM_000276.4(OCRL):c.1821C>T (p.Asp607=)
|
|
|
|
NM_000276.4(OCRL):c.1822dup (p.Ser608fs)
|
|
|
|
NM_000276.4(OCRL):c.182A>G (p.His61Arg)
|
|
|
|
NM_000276.4(OCRL):c.183C>T (p.His61=)
|
|
|
|
NM_000276.4(OCRL):c.1863G>A (p.Glu621=)
|
|
|
|
NM_000276.4(OCRL):c.1879+19A>G
|
|
|
|
NM_000276.4(OCRL):c.1879+2T>G
|
|
|
|
NM_000276.4(OCRL):c.1880-19A>G
|
|
|
|
NM_000276.4(OCRL):c.1880-7A>G
|
|
|
|
NM_000276.4(OCRL):c.1880-9A>C
|
|
|
|
NM_000276.4(OCRL):c.1882G>A (p.Glu628Lys)
|
|
|
|
NM_000276.4(OCRL):c.1887A>G (p.Thr629=)
|
|
|
|
NM_000276.4(OCRL):c.1893C>A (p.Asp631Glu)
|
|
|
|
NM_000276.4(OCRL):c.1898C>T (p.Ser633Phe)
|
|
|
|
NM_000276.4(OCRL):c.1905T>C (p.Asp635=)
|
|
|
|
NM_000276.4(OCRL):c.1926T>C (p.Ser642=)
|
|
|
|
NM_000276.4(OCRL):c.1956G>A (p.Lys652=)
|
|
|
|
NM_000276.4(OCRL):c.1971C>A (p.Leu657=)
|
|
|
|
NM_000276.4(OCRL):c.1971C>T (p.Leu657=)
|
|
|
|
NM_000276.4(OCRL):c.1972G>A (p.Val658Ile)
|
|
|
|
NM_000276.4(OCRL):c.1974C>T (p.Val658=)
|
rs781410604
|
|
|
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)
|
rs2124419015
|
|
|
NM_000276.4(OCRL):c.1988G>T (p.Arg663Leu)
|
rs745885693
|
|
|
NM_000276.4(OCRL):c.199+10T>C
|
|
|
|
NM_000276.4(OCRL):c.199+20A>G
|
|
|
|
NM_000276.4(OCRL):c.200-11T>C
|
|
|
|
NM_000276.4(OCRL):c.200-11dup
|
rs765652296
|
|
|
NM_000276.4(OCRL):c.200-3del
|
|
|
|
NM_000276.4(OCRL):c.200-4T>C
|
|
|
|
NM_000276.4(OCRL):c.200-4_200-3del
|
rs753117153
|
|
|
NM_000276.4(OCRL):c.200-7C>T
|
|
|
|
NM_000276.4(OCRL):c.200-7dup
|
|
|
|
NM_000276.4(OCRL):c.2007G>A (p.Leu669=)
|
|
|
|
NM_000276.4(OCRL):c.2016T>C (p.Ser672=)
|
rs1012694347
|
|
|
NM_000276.4(OCRL):c.2049C>T (p.Ser683=)
|
|
|
|
NM_000276.4(OCRL):c.2058T>C (p.Ala686=)
|
|
|
|
NM_000276.4(OCRL):c.207A>G (p.Glu69=)
|
|
|
|
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)
|
rs2124419087
|
|
|
NM_000276.4(OCRL):c.2086G>A (p.Glu696Lys)
|
rs2124419096
|
|
|
NM_000276.4(OCRL):c.2097T>G (p.Val699=)
|
|
|
|
NM_000276.4(OCRL):c.2106C>T (p.Leu702=)
|
|
|
|
NM_000276.4(OCRL):c.2112C>T (p.Asp704=)
|
|
|
|
NM_000276.4(OCRL):c.2115+15A>G
|
|
|
|
NM_000276.4(OCRL):c.2116-11T>A
|
rs2124426123
|
|
|
NM_000276.4(OCRL):c.2116-14T>C
|
|
|
|
NM_000276.4(OCRL):c.2116-16C>T
|
|
|
|
NM_000276.4(OCRL):c.2116-16_2116-12del
|
|
|
|
NM_000276.4(OCRL):c.2116-8G>A
|
|
|
|
NM_000276.4(OCRL):c.2116-8G>T
|
|
|
|
NM_000276.4(OCRL):c.2132T>G (p.Leu711Arg)
|
|
|
|
NM_000276.4(OCRL):c.2136A>G (p.Glu712=)
|
|
|
|
NM_000276.4(OCRL):c.2139+13A>G
|
|
|
|
NM_000276.4(OCRL):c.2139+17G>A
|
|
|
|
NM_000276.4(OCRL):c.2139+20G>A
|
|
|
|
NM_000276.4(OCRL):c.2139+7C>T
|
|
|
|
NM_000276.4(OCRL):c.2139+9A>G
|
|
|
|
NM_000276.4(OCRL):c.2140-12T>C
|
|
|
|
NM_000276.4(OCRL):c.2140-18T>C
|
|
|
|
NM_000276.4(OCRL):c.2145A>G (p.Lys715=)
|
|
|
|
NM_000276.4(OCRL):c.2151T>G (p.Leu717=)
|
|
|
|
NM_000276.4(OCRL):c.2154G>T (p.Leu718=)
|
|
|
|
NM_000276.4(OCRL):c.2199G>A (p.Gln733=)
|
|
|
|
NM_000276.4(OCRL):c.21C>T (p.Val7=)
|
|
|
|
NM_000276.4(OCRL):c.2214C>G (p.Ile738Met)
|
|
|
|
NM_000276.4(OCRL):c.2214C>T (p.Ile738=)
|
|
|
|
NM_000276.4(OCRL):c.2256+10_2256+11del
|
|
|
|
NM_000276.4(OCRL):c.2256+12T>C
|
|
|
|
NM_000276.4(OCRL):c.2256+17del
|
|
|
|
NM_000276.4(OCRL):c.2256+18T>C
|
|
|
|
NM_000276.4(OCRL):c.2256+1G>T
|
rs2124428298
|
|
|
NM_000276.4(OCRL):c.2256+20C>T
|
|
|
|
NM_000276.4(OCRL):c.2256+6T>C
|
|
|
|
NM_000276.4(OCRL):c.2257-20C>A
|
|
|
|
NM_000276.4(OCRL):c.2277T>G (p.Pro759=)
|
|
|
|
NM_000276.4(OCRL):c.2292G>T (p.Glu764Asp)
|
|
|
|
NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter)
|
rs794727333
|
|
|
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)
|
|
|
|
NM_000276.4(OCRL):c.2313_2316del (p.Cys771fs)
|
|
|
|
NM_000276.4(OCRL):c.2314C>T (p.Leu772=)
|
|
|
|
NM_000276.4(OCRL):c.2341+11C>T
|
|
|
|
NM_000276.4(OCRL):c.2341+12G>A
|
rs756410458
|
|
|
NM_000276.4(OCRL):c.2341+12G>C
|
|
|
|
NM_000276.4(OCRL):c.2341C>G (p.Pro781Ala)
|
|
|
|
NM_000276.4(OCRL):c.2342-10G>A
|
|
|
|
NM_000276.4(OCRL):c.235A>G (p.Asn79Asp)
|
|
|
|
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)
|
rs886039519
|
|
|
NM_000276.4(OCRL):c.2376C>G (p.Leu792=)
|
|
|
|
NM_000276.4(OCRL):c.238+19G>A
|
|
|
|
NM_000276.4(OCRL):c.238+3G>A
|
|
|
|
NM_000276.4(OCRL):c.238+6T>C
|
|
|
|
NM_000276.4(OCRL):c.2389G>C (p.Ala797Pro)
|
rs935956958
|
|
|
NM_000276.4(OCRL):c.238_238+1del
|
|
|
|
NM_000276.4(OCRL):c.239-3dup
|
|
|
|
NM_000276.4(OCRL):c.239-4T>A
|
|
|
|
NM_000276.4(OCRL):c.239-7T>C
|
|
|
|
NM_000276.4(OCRL):c.2392C>T (p.Leu798=)
|
|
|
|
NM_000276.4(OCRL):c.2418_2419delinsTA (p.Glu806_Leu807delinsAspMet)
|
rs2124429709
|
|
|
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)
|
rs1569463775
|
|
|
NM_000276.4(OCRL):c.2429G>A (p.Arg810Gln)
|
|
|
|
NM_000276.4(OCRL):c.2449G>T (p.Asp817Tyr)
|
|
|
|
NM_000276.4(OCRL):c.2456G>C (p.Arg819Pro)
|
|
|
|
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
|
rs1602819835
|
|
|
NM_000276.4(OCRL):c.2469+12T>C
|
|
|
|
NM_000276.4(OCRL):c.2469+13G>A
|
|
|
|
NM_000276.4(OCRL):c.2469+17T>C
|
|
|
|
NM_000276.4(OCRL):c.2469+18G>A
|
|
|
|
NM_000276.4(OCRL):c.2469+1G>A
|
rs1936553500
|
|
|
NM_000276.4(OCRL):c.2469+4G>T
|
|
|
|
NM_000276.4(OCRL):c.2469+8C>T
|
|
|
|
NM_000276.4(OCRL):c.2470-16C>G
|
|
|
|
NM_000276.4(OCRL):c.2470-1G>A
|
rs1602820970
|
|
|
NM_000276.4(OCRL):c.2470-4A>G
|
|
|
|
NM_000276.4(OCRL):c.2470-9T>A
|
|
|
|
NM_000276.4(OCRL):c.2478C>T (p.Ser826=)
|
rs1936564599
|
|
|
NM_000276.4(OCRL):c.2487G>A (p.Pro829=)
|
|
|
|
NM_000276.4(OCRL):c.2490A>G (p.Arg830=)
|
|
|
|
NM_000276.4(OCRL):c.2510G>A (p.Arg837His)
|
|
|
|
NM_000276.4(OCRL):c.2523A>G (p.Ala841=)
|
|
|
|
NM_000276.4(OCRL):c.2529T>C (p.Leu843=)
|
|
|
|
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)
|
rs387906484
|
|
|
NM_000276.4(OCRL):c.2531G>A (p.Arg844Gln)
|
|
|
|
NM_000276.4(OCRL):c.2535A>G (p.Glu845=)
|
|
|
|
NM_000276.4(OCRL):c.2553A>G (p.Glu851=)
|
|
|
|
NM_000276.4(OCRL):c.2556C>T (p.Tyr852=)
|
|
|
|
NM_000276.4(OCRL):c.2562C>T (p.Ser854=)
|
|
|
|
NM_000276.4(OCRL):c.2581+15T>G
|
|
|
|
NM_000276.4(OCRL):c.2581+16G>A
|
|
|
|
NM_000276.4(OCRL):c.2581+19A>C
|
|
|
|
NM_000276.4(OCRL):c.2581G>C (p.Ala861Pro)
|
rs2124430527
|
|
|
NM_000276.4(OCRL):c.2581G>T (p.Ala861Ser)
|
|
|
|
NM_000276.4(OCRL):c.2582-10C>T
|
|
|
|
NM_000276.4(OCRL):c.2582-18C>T
|
|
|
|
NM_000276.4(OCRL):c.2582-3T>A
|
rs2124430712
|
|
|
NM_000276.4(OCRL):c.2586T>A (p.Thr862=)
|
|
|
|
NM_000276.4(OCRL):c.2587C>G (p.Leu863Val)
|
rs2124430719
|
|
|
NM_000276.4(OCRL):c.2593A>G (p.Thr865Ala)
|
|
|
|
NM_000276.4(OCRL):c.2607G>A (p.Leu869=)
|
|
|
|
NM_000276.4(OCRL):c.2613T>C (p.Pro871=)
|
|
|
|
NM_000276.4(OCRL):c.2620A>G (p.Asn874Asp)
|
|
|
|
NM_000276.4(OCRL):c.2621A>G (p.Asn874Ser)
|
|
|
|
NM_000276.4(OCRL):c.2627T>A (p.Met876Lys)
|
|
|
|
NM_000276.4(OCRL):c.2635C>T (p.Gln879Ter)
|
rs1556359544
|
|
|
NM_000276.4(OCRL):c.2657G>A (p.Arg886His)
|
|
|
|
NM_000276.4(OCRL):c.2658T>A (p.Arg886=)
|
|
|
|
NM_000276.4(OCRL):c.265G>C (p.Asp89His)
|
|
|
|
NM_000276.4(OCRL):c.27C>T (p.Ala9=)
|
|
|
|
NM_000276.4(OCRL):c.283C>T (p.Arg95Cys)
|
|
|
|
NM_000276.4(OCRL):c.29A>T (p.Gln10Leu)
|
|
|
|
NM_000276.4(OCRL):c.311G>C (p.Cys104Ser)
|
|
|
|
NM_000276.4(OCRL):c.318G>A (p.Lys106=)
|
|
|
|
NM_000276.4(OCRL):c.332T>C (p.Val111Ala)
|
rs2124401168
|
|
|
NM_000276.4(OCRL):c.33G>A (p.Pro11=)
|
|
|
|
NM_000276.4(OCRL):c.344A>G (p.Gln115Arg)
|
|
|
|
NM_000276.4(OCRL):c.349+12C>T
|
|
|
|
NM_000276.4(OCRL):c.349+16G>A
|
|
|
|
NM_000276.4(OCRL):c.349+17C>T
|
|
|
|
NM_000276.4(OCRL):c.349+18G>A
|
|
|
|
NM_000276.4(OCRL):c.349+2T>G
|
|
|
|
NM_000276.4(OCRL):c.350-10A>C
|
|
|
|
NM_000276.4(OCRL):c.350-14C>T
|
rs2124401607
|
|
|
NM_000276.4(OCRL):c.350-6C>G
|
|
|
|
NM_000276.4(OCRL):c.350-7T>A
|
|
|
|
NM_000276.4(OCRL):c.350-9TC[2]
|
rs1936081749
|
|
|
NM_000276.4(OCRL):c.370C>G (p.Pro124Ala)
|
rs2124401648
|
|
|
NM_000276.4(OCRL):c.384C>T (p.Asp128=)
|
|
|
|
NM_000276.4(OCRL):c.39+14A>C
|
|
|
|
NM_000276.4(OCRL):c.39+15G>A
|
|
|
|
NM_000276.4(OCRL):c.39+15G>C
|
|
|
|
NM_000276.4(OCRL):c.39+16_39+19del
|
|
|
|
NM_000276.4(OCRL):c.39+17A>C
|
|
|
|
NM_000276.4(OCRL):c.39+17A>G
|
|
|
|
NM_000276.4(OCRL):c.39+18G>C
|
|
|
|
NM_000276.4(OCRL):c.39+19G>A
|
|
|
|
NM_000276.4(OCRL):c.39+20G>C
|
|
|
|
NM_000276.4(OCRL):c.39+9C>G
|
rs1261991452
|
|
|
NM_000276.4(OCRL):c.393C>T (p.Ser131=)
|
|
|
|
NM_000276.4(OCRL):c.40-11A>G
|
|
|
|
NM_000276.4(OCRL):c.40-20C>T
|
|
|
|
NM_000276.4(OCRL):c.40-8G>A
|
|
|
|
NM_000276.4(OCRL):c.40-8G>T
|
|
|
|
NM_000276.4(OCRL):c.405A>G (p.Lys135=)
|
|
|
|
NM_000276.4(OCRL):c.411C>T (p.Asp137=)
|
|
|
|
NM_000276.4(OCRL):c.417G>A (p.Lys139=)
|
|
|
|
NM_000276.4(OCRL):c.423A>G (p.Lys141=)
|
|
|
|
NM_000276.4(OCRL):c.427T>C (p.Ser143Pro)
|
|
|
|
NM_000276.4(OCRL):c.430G>T (p.Val144Phe)
|
rs1283513096
|
|
|
NM_000276.4(OCRL):c.431T>C (p.Val144Ala)
|
|
|
|
NM_000276.4(OCRL):c.432T>C (p.Val144=)
|
|
|
|
NM_000276.4(OCRL):c.437C>T (p.Ser146Leu)
|
|
|
|
NM_000276.4(OCRL):c.439+10A>T
|
|
|
|
NM_000276.4(OCRL):c.439+10del
|
|
|
|
NM_000276.4(OCRL):c.439+11G>T
|
|
|
|
NM_000276.4(OCRL):c.439+15C>G
|
|
|
|
NM_000276.4(OCRL):c.439+15C>T
|
|
|
|
NM_000276.4(OCRL):c.439+7A>G
|
|
|
|
NM_000276.4(OCRL):c.439+9A>T
|
|
|
|
NM_000276.4(OCRL):c.43G>C (p.Val15Leu)
|
rs2071724829
|
|
|
NM_000276.4(OCRL):c.440-15G>A
|
|
|
|
NM_000276.4(OCRL):c.440G>C (p.Gly147Ala)
|
rs2124402286
|
|
|
NM_000276.4(OCRL):c.461A>G (p.Asn154Ser)
|
|
|
|
NM_000276.4(OCRL):c.471T>A (p.Ser157=)
|
rs747396791
|
|
|
NM_000276.4(OCRL):c.471T>G (p.Ser157=)
|
rs747396791
|
|
|
NM_000276.4(OCRL):c.474G>A (p.Met158Ile)
|
|
|
|
NM_000276.4(OCRL):c.510T>C (p.Pro170=)
|
|
|
|
NM_000276.4(OCRL):c.516G>T (p.Gly172=)
|
|
|
|
NM_000276.4(OCRL):c.520C>T (p.His174Tyr)
|
|
|
|
NM_000276.4(OCRL):c.548C>T (p.Ser183Leu)
|
|
|
|
NM_000276.4(OCRL):c.560+10A>T
|
|
|
|
NM_000276.4(OCRL):c.560+19C>T
|
|
|
|
NM_000276.4(OCRL):c.560+1G>C
|
rs1569458883
|
|
|
NM_000276.4(OCRL):c.560+8C>G
|
|
|
|
NM_000276.4(OCRL):c.561-17T>C
|
|
|
|
NM_000276.4(OCRL):c.561-8T>G
|
|
|
|
NM_000276.4(OCRL):c.561G>A (p.Met187Ile)
|
rs916507337
|
|
|
NM_000276.4(OCRL):c.568C>T (p.Arg190Cys)
|
|
|
|
NM_000276.4(OCRL):c.569G>A (p.Arg190His)
|
rs776946722
|
|
|
NM_000276.4(OCRL):c.569G>C (p.Arg190Pro)
|
|
|
|
NM_000276.4(OCRL):c.571G>C (p.Glu191Gln)
|
|
|
|
NM_000276.4(OCRL):c.574A>G (p.Lys192Glu)
|
|
|
|
NM_000276.4(OCRL):c.587A>C (p.Asn196Thr)
|
|
|
|
NM_000276.4(OCRL):c.594G>A (p.Glu198=)
|
|
|
|
NM_000276.4(OCRL):c.601A>G (p.Lys201Glu)
|
|
|
|
NM_000276.4(OCRL):c.625C>T (p.Leu209Phe)
|
|
|
|
NM_000276.4(OCRL):c.639T>C (p.Asn213=)
|
|
|
|
NM_000276.4(OCRL):c.642C>G (p.Thr214=)
|
|
|
|
NM_000276.4(OCRL):c.660G>A (p.Glu220=)
|
|
|
|
NM_000276.4(OCRL):c.662G>T (p.Gly221Val)
|
|
|
|
NM_000276.4(OCRL):c.663del (p.Leu222fs)
|
rs2124402639
|
|
|
NM_000276.4(OCRL):c.666C>T (p.Leu222=)
|
|
|
|
NM_000276.4(OCRL):c.671A>G (p.Lys224Arg)
|
|
|
|
NM_000276.4(OCRL):c.676_677del (p.Ile226fs)
|
rs1602782195
|
|
|
NM_000276.4(OCRL):c.678C>T (p.Ile226=)
|
|
|
|
NM_000276.4(OCRL):c.67C>T (p.Pro23Ser)
|
|
|
|
NM_000276.4(OCRL):c.708C>T (p.Asn236=)
|
|
|
|
NM_000276.4(OCRL):c.722+11C>T
|
|
|
|
NM_000276.4(OCRL):c.722G>A (p.Arg241Lys)
|
|
|
|
NM_000276.4(OCRL):c.723-14G>A
|
|
|
|
NM_000276.4(OCRL):c.723-15C>T
|
|
|
|
NM_000276.4(OCRL):c.723-1G>A
|
rs2124404113
|
|
|
NM_000276.4(OCRL):c.746T>G (p.Val249Gly)
|
rs1602783417
|
|
|
NM_000276.4(OCRL):c.74G>C (p.Arg25Pro)
|
|
|
|
NM_000276.4(OCRL):c.75G>A (p.Arg25=)
|
|
|
|
NM_000276.4(OCRL):c.775G>C (p.Glu259Gln)
|
|
|
|
NM_000276.4(OCRL):c.789C>T (p.Asn263=)
|
|
|
|
NM_000276.4(OCRL):c.78G>A (p.Glu26=)
|
|
|
|
NM_000276.4(OCRL):c.799A>G (p.Asn267Asp)
|
|
|
|
NM_000276.4(OCRL):c.800A>G (p.Asn267Ser)
|
|
|
|
NM_000276.4(OCRL):c.801T>C (p.Asn267=)
|
|
|
|
NM_000276.4(OCRL):c.809A>G (p.Asp270Gly)
|
rs1936133194
|
|
|
NM_000276.4(OCRL):c.810T>C (p.Asp270=)
|
|
|
|
NM_000276.4(OCRL):c.820A>G (p.Ile274Val)
|
|
|
|
NM_000276.4(OCRL):c.820del (p.Ile274fs)
|
rs2124404250
|
|
|
NM_000276.4(OCRL):c.825-19A>C
|
|
|
|
NM_000276.4(OCRL):c.825-20C>T
|
|
|
|
NM_000276.4(OCRL):c.831A>G (p.Gln277=)
|
|
|
|
NM_000276.4(OCRL):c.834A>G (p.Glu278=)
|
|
|
|
NM_000276.4(OCRL):c.860dup (p.Tyr288fs)
|
rs1556345889
|
|
|
NM_000276.4(OCRL):c.864C>T (p.Tyr288=)
|
|
|
|
NM_000276.4(OCRL):c.876G>C (p.Val292=)
|
|
|
|
NM_000276.4(OCRL):c.888A>G (p.Glu296=)
|
rs2124404797
|
|
|
NM_000276.4(OCRL):c.904G>T (p.Glu302Ter)
|
rs2124404819
|
|
|
NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)
|
rs1936141520
|
|
|
NM_000276.4(OCRL):c.939+7C>T
|
|
|
|
NM_000276.4(OCRL):c.940-11G>A
|
rs776743373
|
|
|
NM_000276.4(OCRL):c.940-11G>T
|
|
|
|
NM_000276.4(OCRL):c.940-15C>A
|
|
|
|
NM_000276.4(OCRL):c.940-4A>G
|
rs2124405755
|
|
|
NM_000276.4(OCRL):c.943C>T (p.Gln315Ter)
|
|
|
|
NM_000276.4(OCRL):c.946C>G (p.Leu316Val)
|
|
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
|
NM_000276.4(OCRL):c.970CTT[1] (p.Leu325del)
|
rs727504056
|
|
|
NM_000276.4(OCRL):c.982G>A (p.Ala328Thr)
|
|
|
|
NM_000276.4(OCRL):c.984C>G (p.Ala328=)
|
|
|
|
NM_000276.4(OCRL):c.986G>A (p.Arg329Lys)
|
|
|
|
NM_000276.4(OCRL):c.998G>T (p.Cys333Phe)
|
rs2124405824
|
|
|
NM_000276.4(OCRL):c.99C>G (p.Ala33=)
|
|
|
|
NM_000277.2(PAH):c.169_171delGAG
|
rs199475665
|
|
|
NM_000277.3(PAH):c.1011_1024dup (p.Ala342delinsGluThrProTer)
|
|
|
|
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala)
|
rs1169310686
|
|
|
NM_000277.3(PAH):c.1013A>T (p.Asp338Val)
|
|
|
|
NM_000277.3(PAH):c.1017C>T (p.Ser339=)
|
|
|
|
NM_000277.3(PAH):c.1023G>A (p.Lys341=)
|
|
|
|
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr)
|
rs62507282
|
|
|
NM_000277.3(PAH):c.1024G>C (p.Ala342Pro)
|
rs62507282
|
|
|
NM_000277.3(PAH):c.1024del (p.Ala342fs)
|
rs63581460
|
|
|
NM_000277.3(PAH):c.1026A>C (p.Ala342=)
|
|
|
|
NM_000277.3(PAH):c.1028A>G (p.Tyr343Cys)
|
rs62507265
|
|
|
NM_000277.3(PAH):c.1029T>C (p.Tyr343=)
|
|
|
|
NM_000277.3(PAH):c.1029T>G (p.Tyr343Ter)
|
rs1874735553
|
|
|
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)
|
rs62508679
|
|
|
NM_000277.3(PAH):c.1032T>C (p.Gly344=)
|
|
|
|
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)
|
rs62516062
|
|
|
NM_000277.3(PAH):c.1037G>A (p.Gly346Glu)
|
rs1555203737
|
|
|
NM_000277.3(PAH):c.1038del (p.Leu347fs)
|
rs62516063
|
|
|
NM_000277.3(PAH):c.1045T>G (p.Ser349Ala)
|
rs62508646
|
|
|
NM_000277.3(PAH):c.1046C>T (p.Ser349Leu)
|
rs62507279
|
|
|
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
|
|
|
|
NM_000277.3(PAH):c.1050C>A (p.Ser350=)
|
|
|
|
NM_000277.3(PAH):c.1050C>G (p.Ser350=)
|
rs2136636815
|
|
|
NM_000277.3(PAH):c.1054G>T (p.Gly352Cys)
|
rs62508686
|
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
|
NM_000277.3(PAH):c.1062A>G (p.Leu354=)
|
rs2136636752
|
|
|
NM_000277.3(PAH):c.1063C>T (p.Gln355Ter)
|
rs199475633
|
|
|
NM_000277.3(PAH):c.1065+15G>A
|
|
|
|
NM_000277.3(PAH):c.1065+16G>A
|
|
|
|
NM_000277.3(PAH):c.1065+1G>A
|
rs62516147
|
|
|
NM_000277.3(PAH):c.1065+1G>T
|
rs62516147
|
|
|
NM_000277.3(PAH):c.1065+20C>A
|
|
|
|
NM_000277.3(PAH):c.1065+20C>G
|
rs370258593
|
|
|
NM_000277.3(PAH):c.1065+20C>T
|
rs370258593
|
|
|
NM_000277.3(PAH):c.1065+7C>T
|
|
|
|
NM_000277.3(PAH):c.1065+8C>A
|
|
|
|
NM_000277.3(PAH):c.1065+8C>T
|
rs2136636719
|
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
|
NM_000277.3(PAH):c.1066-10_1070del
|
rs1592947582
|
|
|
NM_000277.3(PAH):c.1066-14C>G
|
rs62507334
|
|
|
NM_000277.3(PAH):c.1066-14C>T
|
|
|
|
NM_000277.3(PAH):c.1066-16C>T
|
|
|
|
NM_000277.3(PAH):c.1066-19T>G
|
|
|
|
NM_000277.3(PAH):c.1066-1G>A
|
rs62508684
|
|
|
NM_000277.3(PAH):c.1066-1G>T
|
rs62508684
|
|
|
NM_000277.3(PAH):c.1066-31G>A
|
rs199475685
|
|
|
NM_000277.3(PAH):c.1066-5T>G
|
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
|
NM_000277.3(PAH):c.1066-8G>C
|
|
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
|
NM_000277.3(PAH):c.1069T>C (p.Cys357Arg)
|
rs62508595
|
|
|
NM_000277.3(PAH):c.1071C>T (p.Cys357=)
|
rs766107583
|
|
|
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe)
|
rs376480977
|
|
|
NM_000277.3(PAH):c.1076C>G (p.Ser359Ter)
|
rs5030854
|
|
|
NM_000277.3(PAH):c.1080G>A (p.Glu360=)
|
|
|
|
NM_000277.3(PAH):c.1083G>A (p.Lys361=)
|
rs1874700949
|
|
|
NM_000277.3(PAH):c.1084C>A (p.Pro362Thr)
|
rs62507329
|
|
|
NM_000277.3(PAH):c.1085C>T (p.Pro362Leu)
|
|
|
|
NM_000277.3(PAH):c.1089G>A (p.Lys363=)
|
rs63329263
|
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
|
NM_000277.3(PAH):c.1092T>G (p.Leu364=)
|
rs1174053337
|
|
|
NM_000277.3(PAH):c.1095C>A (p.Leu365=)
|
|
|
|
NM_000277.3(PAH):c.1095C>T (p.Leu365=)
|
rs747661840
|
|
|
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser)
|
rs2136635839
|
|
|
NM_000277.3(PAH):c.1097C>A (p.Pro366His)
|
rs62516098
|
|
|
NM_000277.3(PAH):c.1098C>G (p.Pro366=)
|
|
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
|
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys)
|
rs1488232864
|
|
|
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly)
|
rs1592947508
|
|
|
NM_000277.3(PAH):c.1111_1117del (p.Lys371fs)
|
|
|
|
NM_000277.3(PAH):c.1113G>A (p.Lys371=)
|
|
|
|
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser)
|
rs62517163
|
|
|
NM_000277.3(PAH):c.1115_1116dup (p.Ala373fs)
|
|
|
|
NM_000277.3(PAH):c.1127A>G (p.Asn376Ser)
|
|
|
|
NM_000277.3(PAH):c.1127del (p.Asn376fs)
|
rs62642921
|
|
|
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys)
|
rs62642942
|
|
|
NM_000277.3(PAH):c.1134T>C (p.Thr378=)
|
rs1874693005
|
|
|
NM_000277.3(PAH):c.1134T>G (p.Thr378=)
|
rs1874693005
|
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
|
NM_000277.3(PAH):c.1143G>A (p.Glu381=)
|
rs2136635626
|
|
|
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)
|
rs1555203681
|
|
|
NM_000277.3(PAH):c.1147C>T (p.Gln383Ter)
|
rs1037293795
|
|
|
NM_000277.3(PAH):c.1149del (p.Gln383fs)
|
rs1874691210
|
|
|
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser)
|
rs1555203677
|
|
|
NM_000277.3(PAH):c.1152C>A (p.Pro384=)
|
|
|
|
NM_000277.3(PAH):c.1152C>G (p.Pro384=)
|
rs281865458
|
|
|
NM_000277.3(PAH):c.1153del (p.Leu385fs)
|
rs1565842203
|
|
|
NM_000277.3(PAH):c.1155C>A (p.Leu385=)
|
rs772897
|
|
|
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His)
|
rs2136635586
|
|
|
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp)
|
rs199475691
|
|
|
NM_000277.3(PAH):c.1158T>C (p.Tyr386=)
|
rs2136635574
|
|
|
NM_000277.3(PAH):c.1159T>C (p.Tyr387His)
|
rs62517194
|
|
|
NM_000277.3(PAH):c.1161C>G (p.Tyr387Ter)
|
rs149595475
|
|
|
NM_000277.3(PAH):c.1164G>C (p.Val388=)
|
|
|
|
NM_000277.3(PAH):c.1166del (p.Ala389fs)
|
rs62506949
|
|
|
NM_000277.3(PAH):c.1167A>G (p.Ala389=)
|
rs2136635539
|
|
|
NM_000277.3(PAH):c.1170G>A (p.Glu390=)
|
rs2136635531
|
|
|
NM_000277.3(PAH):c.1172G>T (p.Ser391Ile)
|
|
|
|
NM_000277.3(PAH):c.1180G>C (p.Asp394His)
|
rs62516142
|
|
|
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala)
|
rs62516102
|
|
|
NM_000277.3(PAH):c.1187A>G (p.Lys396Arg)
|
rs776178623
|
|
|
NM_000277.3(PAH):c.1192A>T (p.Lys398Ter)
|
rs2136635468
|
|
|
NM_000277.3(PAH):c.1194A>G (p.Lys398=)
|
rs199475638
|
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
|
NM_000277.3(PAH):c.1198A>C (p.Arg400=)
|
rs199475593
|
|
|
NM_000277.3(PAH):c.1198del (p.Arg400fs)
|
rs199475590
|
|
|
NM_000277.3(PAH):c.1199+18G>A
|
|
|
|
NM_000277.3(PAH):c.1199+19T>C
|
|
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
|
NM_000277.3(PAH):c.1199+20G>C
|
rs62509018
|
|
|
NM_000277.3(PAH):c.1199+4A>G
|
rs1471682834
|
|
|
NM_000277.3(PAH):c.1199+88C>T
|
|
|
|
NM_000277.3(PAH):c.1199+9G>C
|
|
|
|
NM_000277.3(PAH):c.1199G>C (p.Arg400Thr)
|
rs199475658
|
|
|
NM_000277.3(PAH):c.1200-16G>A
|
|
|
|
NM_000277.3(PAH):c.1200-17T>G
|
|
|
|
NM_000277.3(PAH):c.1200-19C>A
|
|
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
|
NM_000277.3(PAH):c.1200-4T>A
|
rs2136632220
|
|
|
NM_000277.3(PAH):c.1200-8G>A
|
rs62507261
|
|
|
NM_000277.3(PAH):c.1200-8G>C
|
rs62507261
|
|
|
NM_000277.3(PAH):c.1200-8G>T
|
rs62507261
|
|
|
NM_000277.3(PAH):c.1200-9T>C
|
rs1329150180
|
|
|
NM_000277.3(PAH):c.1210G>T (p.Ala404Ser)
|
|
|
|
NM_000277.3(PAH):c.1215A>G (p.Thr405=)
|
|
|
|
NM_000277.3(PAH):c.1219C>T (p.Pro407Ser)
|
rs62644465
|
|
|
NM_000277.3(PAH):c.121C>T (p.Leu41Phe)
|
rs62642928
|
|
|
NM_000277.3(PAH):c.1220C>T (p.Pro407Leu)
|
rs62644473
|
|
|
NM_000277.3(PAH):c.1221T>G (p.Pro407=)
|
|
|
|
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys)
|
rs62644475
|
|
|
NM_000277.3(PAH):c.1237C>A (p.Arg413Ser)
|
rs62644467
|
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
|
NM_000277.3(PAH):c.1240T>C (p.Tyr414His)
|
rs281865437
|
|
|
NM_000277.3(PAH):c.1245C>T (p.Asp415=)
|
|
|
|
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)
|
rs1445893088
|
|
|
NM_000277.3(PAH):c.1248A>C (p.Pro416=)
|
rs1874540728
|
|
|
NM_000277.3(PAH):c.1248A>G (p.Pro416=)
|
|
|
|
NM_000277.3(PAH):c.1250A>G (p.Tyr417Cys)
|
rs1371700813
|
|
|
NM_000277.3(PAH):c.1252A>C (p.Thr418Pro)
|
rs62644501
|
|
|
NM_000277.3(PAH):c.1253C>A (p.Thr418Asn)
|
|
|
|
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile)
|
rs1874539947
|
|
|
NM_000277.3(PAH):c.1254C>A (p.Thr418=)
|
rs755787172
|
|
|
NM_000277.3(PAH):c.1257A>G (p.Gln419=)
|
rs2136632019
|
|
|
NM_000277.3(PAH):c.1258A>G (p.Arg420Gly)
|
|
|
|
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr)
|
rs767075719
|
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
|
NM_000277.3(PAH):c.1262T>C (p.Ile421Thr)
|
rs199475696
|
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
|
NM_000277.3(PAH):c.1264G>A (p.Glu422Lys)
|
rs199475621
|
|
|
NM_000277.3(PAH):c.1266G>A (p.Glu422=)
|
|
|
|
NM_000277.3(PAH):c.127del (p.Glu43fs)
|
rs2136728245
|
|
|
NM_000277.3(PAH):c.1282C>G (p.Gln428Glu)
|
|
|
|
NM_000277.3(PAH):c.1282C>T (p.Gln428Ter)
|
rs567261857
|
|
|
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)
|
rs764974157
|
|
|
NM_000277.3(PAH):c.1287G>A (p.Gln429=)
|
rs2136631945
|
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
|
NM_000277.3(PAH):c.1304A>T (p.Asp435Val)
|
rs1592945394
|
|
|
NM_000277.3(PAH):c.1305T>C (p.Asp435=)
|
|
|
|
NM_000277.3(PAH):c.1315+10T>G
|
|
|
|
NM_000277.3(PAH):c.1315+13C>T
|
|
|
|
NM_000277.3(PAH):c.1315+14del
|
|
|
|
NM_000277.3(PAH):c.1315+16C>A
|
|
|
|
NM_000277.3(PAH):c.1315+17T>C
|
|
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
|
NM_000277.3(PAH):c.1315+4A>G
|
rs62508649
|
|
|
NM_000277.3(PAH):c.1315+6T>A
|
rs62508650
|
|
|
NM_000277.3(PAH):c.1315+7A>C
|
|
|
|
NM_000277.3(PAH):c.1315+9T>C
|
rs199979357
|
|
|
NM_000277.3(PAH):c.1316-11T>C
|
|
|
|
NM_000277.3(PAH):c.1316-17G>A
|
|
|
|
NM_000277.3(PAH):c.1316-8C>A
|
rs2136630870
|
|
|
NM_000277.3(PAH):c.1316-9T>C
|
|
|
|
NM_000277.3(PAH):c.1329C>A (p.Ile443=)
|
rs1285012083
|
|
|
NM_000277.3(PAH):c.1332T>G (p.Leu444=)
|
rs957481163
|
|
|
NM_000277.3(PAH):c.1339G>A (p.Ala447Thr)
|
rs1192400891
|
|
|
NM_000277.3(PAH):c.133G>T (p.Val45Phe)
|
rs1878255139
|
|
|
NM_000277.3(PAH):c.1341C>A (p.Ala447=)
|
rs2136630826
|
|
|
NM_000277.3(PAH):c.1342C>T (p.Leu448Phe)
|
|
|
|
NM_000277.3(PAH):c.1344C>T (p.Leu448=)
|
rs747923532
|
|
|
NM_000277.3(PAH):c.1353A>C (p.Ile451=)
|
rs1440206706
|
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
|
NM_000277.3(PAH):c.1357_*2del (p.Ter453ProextTer?)
|
rs794727086
|
|
|
NM_000277.3(PAH):c.135T>C (p.Val45=)
|
rs773425620
|
|
|
NM_000277.3(PAH):c.146C>T (p.Ala49Val)
|
rs1878253465
|
|
|
NM_000277.3(PAH):c.147C>G (p.Ala49=)
|
rs2136728129
|
|
|
NM_000277.3(PAH):c.148A>G (p.Lys50Glu)
|
|
|
|
NM_000277.3(PAH):c.153A>T (p.Val51=)
|
rs2136728110
|
|
|
NM_000277.3(PAH):c.155T>C (p.Leu52Ser)
|
rs199475630
|
|
|
NM_000277.3(PAH):c.157C>A (p.Arg53Ser)
|
rs199475619
|
|
|
NM_000277.3(PAH):c.159C>T (p.Arg53=)
|
rs2136728068
|
|
|
NM_000277.3(PAH):c.165T>C (p.Phe55=)
|
rs199475598
|
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
|
NM_000277.3(PAH):c.168+13A>G
|
|
|
|
NM_000277.3(PAH):c.168+14T>C
|
|
|
|
NM_000277.3(PAH):c.168+17T>C
|
|
|
|
NM_000277.3(PAH):c.168+18G>T
|
|
|
|
NM_000277.3(PAH):c.168+19T>G
|
|
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
|
NM_000277.3(PAH):c.168+2T>A
|
rs1025860114
|
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
|
NM_000277.3(PAH):c.168G>T (p.Glu56Asp)
|
rs199475567
|
|
|
NM_000277.3(PAH):c.168_168+1delinsAA
|
rs786204457
|
|
|
NM_000277.3(PAH):c.169-10T>C
|
rs536596014
|
|
|
NM_000277.3(PAH):c.169-10T>G
|
rs536596014
|
|
|
NM_000277.3(PAH):c.169-16_169-15del
|
|
|
|
NM_000277.3(PAH):c.169-18C>A
|
|
|
|
NM_000277.3(PAH):c.169-5T>A
|
rs2136702231
|
|
|
NM_000277.3(PAH):c.169-7C>G
|
rs2136702235
|
|
|
NM_000277.3(PAH):c.169-8T>C
|
|
|
|
NM_000277.3(PAH):c.181A>G (p.Asn61Asp)
|
rs199475651
|
|
|
NM_000277.3(PAH):c.182A>G (p.Asn61Ser)
|
rs2136702181
|
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
|
NM_000277.3(PAH):c.184C>T (p.Leu62=)
|
|
|
|
NM_000277.3(PAH):c.187_190delinsCCCA (p.Thr63_His64delinsProAsn)
|
rs1877437047
|
|
|
NM_000277.3(PAH):c.192C>T (p.His64=)
|
|
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
|
NM_000277.3(PAH):c.1A>T (p.Met1Leu)
|
rs62514891
|
|
|
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
|
|
|
|
NM_000277.3(PAH):c.200C>G (p.Ser67Cys)
|
rs2136702072
|
|
|
NM_000277.3(PAH):c.201T>G (p.Ser67=)
|
rs1368765465
|
|
|
NM_000277.3(PAH):c.204A>G (p.Arg68=)
|
|
|
|
NM_000277.3(PAH):c.205C>T (p.Pro69Ser)
|
rs199475678
|
|
|
NM_000277.3(PAH):c.206C>T (p.Pro69Leu)
|
|
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
|
NM_000277.3(PAH):c.212G>C (p.Arg71Pro)
|
rs62508695
|
|
|
NM_000277.3(PAH):c.214T>G (p.Leu72Val)
|
|
|
|
NM_000277.3(PAH):c.21A>G (p.Glu7=)
|
rs2136734114
|
|
|
NM_000277.3(PAH):c.223G>C (p.Asp75His)
|
rs767453024
|
|
|
NM_000277.3(PAH):c.227A>C (p.Glu76Ala)
|
rs62507347
|
|
|
NM_000277.3(PAH):c.227A>G (p.Glu76Gly)
|
rs62507347
|
|
|
NM_000277.3(PAH):c.228G>A (p.Glu76=)
|
|
|
|
NM_000277.3(PAH):c.229T>C (p.Tyr77His)
|
|
|
|
NM_000277.3(PAH):c.22A>G (p.Asn8Asp)
|
|
|
|
NM_000277.3(PAH):c.232G>A (p.Glu78Lys)
|
rs62507326
|
|
|
NM_000277.3(PAH):c.234A>T (p.Glu78Asp)
|
rs2136701879
|
|
|
NM_000277.3(PAH):c.23del (p.Asn8fs)
|
|
|
|
NM_000277.3(PAH):c.242C>A (p.Thr81Asn)
|
rs796064502
|
|
|
NM_000277.3(PAH):c.247T>C (p.Leu83=)
|
rs2136701833
|
|
|
NM_000277.3(PAH):c.250G>A (p.Asp84Asn)
|
|
|
|
NM_000277.3(PAH):c.257G>A (p.Arg86His)
|
|
|
|
NM_000277.3(PAH):c.261C>T (p.Ser87=)
|
rs62516151
|
|
|
NM_000277.3(PAH):c.264G>A (p.Leu88=)
|
|
|
|
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
|
|
|
|
NM_000277.3(PAH):c.265C>T (p.Pro89Ser)
|
rs62507270
|
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
|
NM_000277.3(PAH):c.27A>C (p.Pro9=)
|
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
|
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)
|
rs281865432
|
|
|
NM_000277.3(PAH):c.285C>T (p.Ile95=)
|
rs1877427309
|
|
|
NM_000277.3(PAH):c.291C>T (p.Ile97=)
|
rs2136701670
|
|
|
NM_000277.3(PAH):c.293T>C (p.Leu98Ser)
|
rs62517167
|
|
|
NM_000277.3(PAH):c.295A>G (p.Arg99Gly)
|
rs2136701651
|
|
|
NM_000277.3(PAH):c.297G>A (p.Arg99=)
|
|
|
|
NM_000277.3(PAH):c.301G>A (p.Asp101Asn)
|
rs1555207979
|
|
|
NM_000277.3(PAH):c.303C>T (p.Asp101=)
|
|
|
|
NM_000277.3(PAH):c.305T>C (p.Ile102Thr)
|
rs62508591
|
|
|
NM_000277.3(PAH):c.308G>A (p.Gly103Asp)
|
rs2136701578
|
|
|
NM_000277.3(PAH):c.309T>G (p.Gly103=)
|
rs2136701573
|
|
|
NM_000277.3(PAH):c.312C>T (p.Ala104=)
|
|
|
|
NM_000277.3(PAH):c.320A>C (p.His107Pro)
|
rs542645236
|
|
|
NM_000277.3(PAH):c.327T>C (p.Leu109=)
|
rs1229487239
|
|
|
NM_000277.3(PAH):c.329del (p.Ser110fs)
|
rs1057516389
|
|
|
NM_000277.3(PAH):c.330A>G (p.Ser110=)
|
|
|
|
NM_000277.3(PAH):c.339G>A (p.Lys113=)
|
|
|
|
NM_000277.3(PAH):c.342G>A (p.Lys114=)
|
rs2136701489
|
|
|
NM_000277.3(PAH):c.352+10A>C
|
rs559561517
|
|
|
NM_000277.3(PAH):c.352+16A>G
|
|
|
|
NM_000277.3(PAH):c.352+1G>A
|
rs199475684
|
|
|
NM_000277.3(PAH):c.352+7A>C
|
|
|
|
NM_000277.3(PAH):c.352+7A>T
|
rs2136701430
|
|
|
NM_000277.3(PAH):c.353-14T>C
|
|
|
|
NM_000277.3(PAH):c.353-16C>T
|
|
|
|
NM_000277.3(PAH):c.353-18G>A
|
|
|
|
NM_000277.3(PAH):c.353-1G>A
|
rs1876628530
|
|
|
NM_000277.3(PAH):c.353-4T>G
|
rs2136679249
|
|
|
NM_000277.3(PAH):c.353-7G>A
|
rs2136679264
|
|
|
NM_000277.3(PAH):c.353-7G>T
|
rs2136679264
|
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
|
NM_000277.3(PAH):c.353-8T>C
|
rs1174392751
|
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
|
NM_000277.3(PAH):c.357C>T (p.Pro119=)
|
rs2136679226
|
|
|
NM_000277.3(PAH):c.357del (p.Trp120fs)
|
rs794727619
|
|
|
NM_000277.3(PAH):c.361T>C (p.Phe121Leu)
|
|
|
|
NM_000277.3(PAH):c.364C>T (p.Pro122Ser)
|
rs1466564208
|
|
|
NM_000277.3(PAH):c.365C>A (p.Pro122Gln)
|
rs199475622
|
|
|
NM_000277.3(PAH):c.365del (p.Pro122fs)
|
rs1876626818
|
|
|
NM_000277.3(PAH):c.366A>G (p.Pro122=)
|
|
|
|
NM_000277.3(PAH):c.368G>T (p.Arg123Ile)
|
rs199475681
|
|
|
NM_000277.3(PAH):c.371C>A (p.Thr124Asn)
|
|
|
|
NM_000277.3(PAH):c.375T>C (p.Ile125=)
|
rs1028484259
|
|
|
NM_000277.3(PAH):c.381G>A (p.Glu127=)
|
rs767127989
|
|
|
NM_000277.3(PAH):c.384G>A (p.Leu128=)
|
|
|
|
NM_000277.3(PAH):c.385G>T (p.Asp129Tyr)
|
rs199475606
|
|
|
NM_000277.3(PAH):c.392T>C (p.Phe131Ser)
|
rs1876624286
|
|
|
NM_000277.3(PAH):c.398_401del (p.Asn133fs)
|
rs199475605
|
|
|
NM_000277.3(PAH):c.39G>A (p.Arg13=)
|
|
|
|
NM_000277.3(PAH):c.3G>A (p.Met1Ile)
|
rs62514893
|
|
|
NM_000277.3(PAH):c.3G>C (p.Met1Ile)
|
rs62514893
|
|
|
NM_000277.3(PAH):c.419C>T (p.Ala140Val)
|
|
|
|
NM_000277.3(PAH):c.420G>T (p.Ala140=)
|
rs200366386
|
|
|
NM_000277.3(PAH):c.428A>G (p.Asp143Gly)
|
rs199475572
|
|
|
NM_000277.3(PAH):c.432T>C (p.Ala144=)
|
|
|
|
NM_000277.3(PAH):c.435C>T (p.Asp145=)
|
|
|
|
NM_000277.3(PAH):c.439C>T (p.Pro147Ser)
|
rs199475624
|
|
|
NM_000277.3(PAH):c.440C>T (p.Pro147Leu)
|
rs199475694
|
|
|
NM_000277.3(PAH):c.441+10T>C
|
|
|
|
NM_000277.3(PAH):c.441+12G>A
|
rs767307581
|
|
|
NM_000277.3(PAH):c.441+16G>A
|
|
|
|
NM_000277.3(PAH):c.441+16G>T
|
|
|
|
NM_000277.3(PAH):c.441+18del
|
|
|
|
NM_000277.3(PAH):c.441+20G>T
|
|
|
|
NM_000277.3(PAH):c.441+6T>A
|
rs199475698
|
|
|
NM_000277.3(PAH):c.441+6T>C
|
rs199475698
|
|
|
NM_000277.3(PAH):c.441+8C>T
|
rs777613969
|
|
|
NM_000277.3(PAH):c.442-10T>C
|
|
|
|
NM_000277.3(PAH):c.442-14C>G
|
|
|
|
NM_000277.3(PAH):c.442-17T>C
|
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
|
NM_000277.3(PAH):c.442-2A>C
|
rs281865448
|
|
|
NM_000277.3(PAH):c.442-4C>G
|
rs987125136
|
|
|
NM_000277.3(PAH):c.442-4C>T
|
|
|
|
NM_000277.3(PAH):c.442-7C>A
|
|
|
|
NM_000277.3(PAH):c.442-7C>T
|
|
|
|
NM_000277.3(PAH):c.443G>A (p.Gly148Asp)
|
rs1555205655
|
|
|
NM_000277.3(PAH):c.447T>C (p.Phe149=)
|
rs770990005
|
|
|
NM_000277.3(PAH):c.44T>G (p.Leu15Arg)
|
|
|
|
NM_000277.3(PAH):c.450dup (p.Asp151fs)
|
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
|
NM_000277.3(PAH):c.458T>C (p.Val153Ala)
|
|
|
|
NM_000277.3(PAH):c.45C>G (p.Leu15=)
|
|
|
|
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys)
|
rs1565853526
|
|
|
NM_000277.3(PAH):c.461A>T (p.Tyr154Phe)
|
rs1565853526
|
|
|
NM_000277.3(PAH):c.462C>T (p.Tyr154=)
|
rs1191473722
|
|
|
NM_000277.3(PAH):c.464G>C (p.Arg155Pro)
|
rs199475663
|
|
|
NM_000277.3(PAH):c.465T>C (p.Arg155=)
|
|
|
|
NM_000277.3(PAH):c.467C>G (p.Ala156Gly)
|
rs570748767
|
|
|
NM_000277.3(PAH):c.467C>T (p.Ala156Val)
|
rs570748767
|
|
|
NM_000277.3(PAH):c.470G>T (p.Arg157Ile)
|
rs199475611
|
|
|
NM_000277.3(PAH):c.471A>G (p.Arg157=)
|
|
|
|
NM_000277.3(PAH):c.472C>G (p.Arg158Gly)
|
|
|
|
NM_000277.3(PAH):c.474G>A (p.Arg158=)
|
rs2136663312
|
|
|
NM_000277.3(PAH):c.477G>A (p.Lys159=)
|
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
|
NM_000277.3(PAH):c.489C>T (p.Asp163=)
|
rs1315260421
|
|
|
NM_000277.3(PAH):c.491T>C (p.Ile164Thr)
|
rs199475595
|
|
|
NM_000277.3(PAH):c.493G>C (p.Ala165Pro)
|
rs199475626
|
|
|
NM_000277.3(PAH):c.493_496del (p.Ala165fs)
|
|
|
|
NM_000277.3(PAH):c.495C>T (p.Ala165=)
|
rs1875979842
|
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
|
NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)
|
rs281865455
|
|
|
NM_000277.3(PAH):c.504C>T (p.Tyr168=)
|
|
|
|
NM_000277.3(PAH):c.505C>A (p.Arg169Ser)
|
rs281865440
|
|
|
NM_000277.3(PAH):c.506G>T (p.Arg169Leu)
|
|
|
|
NM_000277.3(PAH):c.509+15C>T
|
|
|
|
NM_000277.3(PAH):c.509+17T>C
|
|
|
|
NM_000277.3(PAH):c.509+19T>C
|
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
|
NM_000277.3(PAH):c.509+9del
|
|
|
|
NM_000277.3(PAH):c.509A>C (p.His170Pro)
|
rs199475573
|
|
|
NM_000277.3(PAH):c.510-10T>C
|
rs1256834291
|
|
|
NM_000277.3(PAH):c.510-14T>C
|
|
|
|
NM_000277.3(PAH):c.510-16T>G
|
rs2136649964
|
|
|
NM_000277.3(PAH):c.510-20A>G
|
|
|
|
NM_000277.3(PAH):c.510-20_510-18dup
|
rs398123293
|
|
|
NM_000277.3(PAH):c.510-21_687delinsCCA
|
rs2136649216
|
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
|
NM_000277.3(PAH):c.510-7A>G
|
|
|
|
NM_000277.3(PAH):c.510-8T>C
|
|
|
|
NM_000277.3(PAH):c.510-9G>A
|
|
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.511G>C (p.Gly171Arg)
|
rs199475613
|
|
|
NM_000277.3(PAH):c.514C>T (p.Gln172Ter)
|
rs199475588
|
|
|
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
|
|
|
|
NM_000277.3(PAH):c.516G>C (p.Gln172His)
|
rs192592111
|
|
|
NM_000277.3(PAH):c.521T>A (p.Ile174Asn)
|
|
|
|
NM_000277.3(PAH):c.526C>A (p.Arg176=)
|
|
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.527G>C (p.Arg176Pro)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
|
NM_000277.3(PAH):c.543G>A (p.Glu181=)
|
|
|
|
NM_000277.3(PAH):c.544G>A (p.Glu182Lys)
|
rs2136649777
|
|
|
NM_000277.3(PAH):c.547G>T (p.Glu183Ter)
|
rs199475664
|
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
|
NM_000277.3(PAH):c.552_554del (p.Lys185del)
|
|
|
|
NM_000277.3(PAH):c.553A>G (p.Lys185Glu)
|
|
|
|
NM_000277.3(PAH):c.553_706+646delinsTACTTACCTAT
|
|
|
|
NM_000277.3(PAH):c.553_706+647del
|
|
|
|
NM_000277.3(PAH):c.556A>G (p.Thr186Ala)
|
|
|
|
NM_000277.3(PAH):c.556del (p.Thr186fs)
|
rs62507328
|
|
|
NM_000277.3(PAH):c.557C>T (p.Thr186Ile)
|
rs1875371404
|
|
|
NM_000277.3(PAH):c.561G>C (p.Trp187Cys)
|
rs62507336
|
|
|
NM_000277.3(PAH):c.562G>A (p.Gly188Ser)
|
rs2136649680
|
|
|
NM_000277.3(PAH):c.563G>A (p.Gly188Asp)
|
rs199475689
|
|
|
NM_000277.3(PAH):c.563del (p.Gly188fs)
|
rs62507260
|
|
|
NM_000277.3(PAH):c.567A>G (p.Thr189=)
|
rs1368976942
|
|
|
NM_000277.3(PAH):c.568G>A (p.Val190Met)
|
rs281865441
|
|
|
NM_000277.3(PAH):c.570G>A (p.Val190=)
|
rs2136649631
|
|
|
NM_000277.3(PAH):c.574A>G (p.Lys192Glu)
|
|
|
|
NM_000277.3(PAH):c.574_580del (p.Phe191_Lys192insTer)
|
rs2136649605
|
|
|
NM_000277.3(PAH):c.58C>T (p.Gln20Ter)
|
rs199475585
|
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
|
NM_000277.3(PAH):c.60+10G>A
|
rs1878409841
|
|
|
NM_000277.3(PAH):c.60+12C>T
|
|
|
|
NM_000277.3(PAH):c.60+17T>A
|
|
|
|
NM_000277.3(PAH):c.60+19A>G
|
|
|
|
NM_000277.3(PAH):c.60+7_60+12del
|
|
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
|
NM_000277.3(PAH):c.602A>G (p.His201Arg)
|
rs62517180
|
|
|
NM_000277.3(PAH):c.603T>G (p.His201Gln)
|
rs751977644
|
|
|
NM_000277.3(PAH):c.61-10T>C
|
|
|
|
NM_000277.3(PAH):c.61-13T>C
|
|
|
|
NM_000277.3(PAH):c.61-15C>A
|
|
|
|
NM_000277.3(PAH):c.61-15C>T
|
|
|
|
NM_000277.3(PAH):c.61-17T>C
|
|
|
|
NM_000277.3(PAH):c.61-19A>G
|
|
|
|
NM_000277.3(PAH):c.61-4G>A
|
|
|
|
NM_000277.3(PAH):c.61-4del
|
|
|
|
NM_000277.3(PAH):c.61-6C>T
|
rs2136728439
|
|
|
NM_000277.3(PAH):c.61-9A>C
|
|
|
|
NM_000277.3(PAH):c.61-9A>T
|
rs2136728443
|
|
|
NM_000277.3(PAH):c.610dup (p.Tyr204fs)
|
rs1555204711
|
|
|
NM_000277.3(PAH):c.612T>G (p.Tyr204Ter)
|
rs62514928
|
|
|
NM_000277.3(PAH):c.613G>A (p.Glu205Lys)
|
rs63083560
|
|
|
NM_000277.3(PAH):c.614A>G (p.Glu205Gly)
|
rs62508593
|
|
|
NM_000277.3(PAH):c.615G>A (p.Glu205=)
|
|
|
|
NM_000277.3(PAH):c.615G>C (p.Glu205Asp)
|
rs765552494
|
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
|
NM_000277.3(PAH):c.620A>G (p.Asn207Ser)
|
rs62508721
|
|
|
NM_000277.3(PAH):c.626T>C (p.Ile209Thr)
|
|
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
|
NM_000277.3(PAH):c.632dup (p.Leu212fs)
|
|
|
|
NM_000277.3(PAH):c.635T>C (p.Leu212Pro)
|
rs62517198
|
|
|
NM_000277.3(PAH):c.637C>T (p.Leu213Phe)
|
rs1131691945
|
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
|
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
|
|
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
|
NM_000277.3(PAH):c.649T>C (p.Cys217Arg)
|
rs62508718
|
|
|
NM_000277.3(PAH):c.650G>A (p.Cys217Tyr)
|
rs62508617
|
|
|
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
|
|
|
|
NM_000277.3(PAH):c.651T>C (p.Cys217=)
|
rs2136649339
|
|
|
NM_000277.3(PAH):c.654C>G (p.Gly218=)
|
rs777465976
|
|
|
NM_000277.3(PAH):c.654C>T (p.Gly218=)
|
rs777465976
|
|
|
NM_000277.3(PAH):c.656T>A (p.Phe219Tyr)
|
|
|
|
NM_000277.3(PAH):c.657C>T (p.Phe219=)
|
|
|
|
NM_000277.3(PAH):c.661G>A (p.Glu221Lys)
|
rs2136649314
|
|
|
NM_000277.3(PAH):c.662A>G (p.Glu221Gly)
|
rs62514934
|
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
|
NM_000277.3(PAH):c.665A>T (p.Asp222Val)
|
rs62507319
|
|
|
NM_000277.3(PAH):c.666T>G (p.Asp222Glu)
|
rs1263259211
|
|
|
NM_000277.3(PAH):c.669C>T (p.Asn223=)
|
rs1875356807
|
|
|
NM_000277.3(PAH):c.66A>C (p.Thr22=)
|
rs2136728416
|
|
|
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
|
|
|
|
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
|
|
|
|
NM_000277.3(PAH):c.675C>T (p.Pro225=)
|
rs2136649258
|
|
|
NM_000277.3(PAH):c.678G>C (p.Gln226His)
|
rs62508615
|
|
|
NM_000277.3(PAH):c.679C>T (p.Leu227=)
|
|
|
|
NM_000277.3(PAH):c.682G>A (p.Glu228Lys)
|
rs281865444
|
|
|
NM_000277.3(PAH):c.686dup (p.Asp229fs)
|
rs1565848110
|
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
|
NM_000277.3(PAH):c.692C>T (p.Ser231Phe)
|
rs62508577
|
|
|
NM_000277.3(PAH):c.703C>A (p.Gln235Lys)
|
rs1237792711
|
|
|
NM_000277.3(PAH):c.703C>T (p.Gln235Ter)
|
rs1237792711
|
|
|
NM_000277.3(PAH):c.706+11A>C
|
|
|
|
NM_000277.3(PAH):c.706+11A>T
|
|
|
|
NM_000277.3(PAH):c.706+12T>G
|
|
|
|
NM_000277.3(PAH):c.706+19C>A
|
|
|
|
NM_000277.3(PAH):c.706+8C>A
|
rs2136649125
|
|
|
NM_000277.3(PAH):c.706+8C>T
|
rs2136649125
|
|
|
NM_000277.3(PAH):c.706+9A>G
|
|
|
|
NM_000277.3(PAH):c.707-12T>C
|
|
|
|
NM_000277.3(PAH):c.707-12_711del
|
rs1555204492
|
|
|
NM_000277.3(PAH):c.707-17_707-14del
|
|
|
|
NM_000277.3(PAH):c.707-18T>C
|
rs779692890
|
|
|
NM_000277.3(PAH):c.707-18T>G
|
|
|
|
NM_000277.3(PAH):c.707-1G>A
|
rs62507269
|
|
|
NM_000277.3(PAH):c.707-2A>T
|
|
|
|
NM_000277.3(PAH):c.707-4C>A
|
|
|
|
NM_000277.3(PAH):c.707-59C>G
|
|
|
|
NM_000277.3(PAH):c.707-8C>T
|
rs764946616
|
|
|
NM_000277.3(PAH):c.713C>T (p.Thr238Ile)
|
|
|
|
NM_000277.3(PAH):c.714T>A (p.Thr238=)
|
rs2136646476
|
|
|
NM_000277.3(PAH):c.714T>C (p.Thr238=)
|
|
|
|
NM_000277.3(PAH):c.716G>A (p.Gly239Asp)
|
rs62507283
|
|
|
NM_000277.3(PAH):c.716G>C (p.Gly239Ala)
|
rs62507283
|
|
|
NM_000277.3(PAH):c.718T>G (p.Phe240Val)
|
rs62507337
|
|
|
NM_000277.3(PAH):c.721C>A (p.Arg241Ser)
|
rs76687508
|
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
|
NM_000277.3(PAH):c.722del (p.Arg241fs)
|
rs199475657
|
|
|
NM_000277.3(PAH):c.724C>T (p.Leu242Phe)
|
rs199475578
|
|
|
NM_000277.3(PAH):c.72T>C (p.Tyr24=)
|
rs2136728385
|
|
|
NM_000277.3(PAH):c.732T>G (p.Pro244=)
|
|
|
|
NM_000277.3(PAH):c.733G>C (p.Val245Leu)
|
rs62508694
|
|
|
NM_000277.3(PAH):c.734T>A (p.Val245Glu)
|
rs76212747
|
|
|
NM_000277.3(PAH):c.737C>A (p.Ala246Asp)
|
rs199475610
|
|
|
NM_000277.3(PAH):c.739G>C (p.Gly247Arg)
|
rs62508731
|
|
|
NM_000277.3(PAH):c.740G>T (p.Gly247Val)
|
rs199475579
|
|
|
NM_000277.3(PAH):c.742C>T (p.Leu248=)
|
|
|
|
NM_000277.3(PAH):c.750C>A (p.Ser250=)
|
rs1592953026
|
|
|
NM_000277.3(PAH):c.750C>T (p.Ser250=)
|
rs1592953026
|
|
|
NM_000277.3(PAH):c.752C>T (p.Ser251Phe)
|
|
|
|
NM_000277.3(PAH):c.754C>A (p.Arg252=)
|
|
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
|
NM_000277.3(PAH):c.755G>C (p.Arg252Pro)
|
rs62644503
|
|
|
NM_000277.3(PAH):c.756G>A (p.Arg252=)
|
rs1320172123
|
|
|
NM_000277.3(PAH):c.75T>C (p.Ile25=)
|
rs1592988950
|
|
|
NM_000277.3(PAH):c.764T>C (p.Leu255Ser)
|
rs62642930
|
|
|
NM_000277.3(PAH):c.771C>A (p.Gly257=)
|
rs544995045
|
|
|
NM_000277.3(PAH):c.774G>A (p.Leu258=)
|
rs2136646229
|
|
|
NM_000277.3(PAH):c.774G>T (p.Leu258=)
|
rs2136646229
|
|
|
NM_000277.3(PAH):c.775G>A (p.Ala259Thr)
|
rs62642932
|
|
|
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
|
|
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
|
NM_000277.3(PAH):c.783A>G (p.Arg261=)
|
rs2136646206
|
|
|
NM_000277.3(PAH):c.789C>A (p.Phe263Leu)
|
rs62642944
|
|
|
NM_000277.3(PAH):c.789C>T (p.Phe263=)
|
|
|
|
NM_000277.3(PAH):c.78del (p.Asp27fs)
|
|
|
|
NM_000277.3(PAH):c.791A>G (p.His264Arg)
|
rs199475580
|
|
|
NM_000277.3(PAH):c.792C>T (p.His264=)
|
rs912042558
|
|
|
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr)
|
rs62507335
|
|
|
NM_000277.3(PAH):c.795C>T (p.Cys265=)
|
rs1231529155
|
|
|
NM_000277.3(PAH):c.796A>G (p.Thr266Ala)
|
rs62508752
|
|
|
NM_000277.3(PAH):c.799C>T (p.Gln267Ter)
|
rs199475676
|
|
|
NM_000277.3(PAH):c.800A>T (p.Gln267Leu)
|
rs778154939
|
|
|
NM_000277.3(PAH):c.801G>A (p.Gln267=)
|
rs199475675
|
|
|
NM_000277.3(PAH):c.801del (p.Gln267fs)
|
rs1875230062
|
|
|
NM_000277.3(PAH):c.803A>G (p.Tyr268Cys)
|
rs1565846805
|
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
|
NM_000277.3(PAH):c.805A>G (p.Ile269Val)
|
rs62508692
|
|
|
NM_000277.3(PAH):c.807C>A (p.Ile269=)
|
|
|
|
NM_000277.3(PAH):c.809_820del (p.Arg270_Ser273del)
|
|
|
|
NM_000277.3(PAH):c.811C>A (p.His271Asn)
|
|
|
|
NM_000277.3(PAH):c.816A>G (p.Gly272=)
|
|
|
|
NM_000277.3(PAH):c.81C>T (p.Asp27=)
|
rs1878258443
|
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
|
NM_000277.3(PAH):c.823C>T (p.Pro275Ser)
|
rs62508691
|
|
|
NM_000277.3(PAH):c.824C>G (p.Pro275Arg)
|
rs62508715
|
|
|
NM_000277.3(PAH):c.824C>T (p.Pro275Leu)
|
rs62508715
|
|
|
NM_000277.3(PAH):c.826A>G (p.Met276Val)
|
rs62516149
|
|
|
NM_000277.3(PAH):c.827T>A (p.Met276Lys)
|
rs62508722
|
|
|
NM_000277.3(PAH):c.827T>C (p.Met276Thr)
|
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
|
NM_000277.3(PAH):c.835C>A (p.Pro279Thr)
|
|
|
|
NM_000277.3(PAH):c.836C>T (p.Pro279Leu)
|
rs796064503
|
|
|
NM_000277.3(PAH):c.837dup (p.Glu280fs)
|
|
|
|
NM_000277.3(PAH):c.838G>C (p.Glu280Gln)
|
rs62508698
|
|
|
NM_000277.3(PAH):c.839A>C (p.Glu280Ala)
|
|
|
|
NM_000277.3(PAH):c.839A>G (p.Glu280Gly)
|
rs62508734
|
|
|
NM_000277.3(PAH):c.842+11T>C
|
|
|
|
NM_000277.3(PAH):c.842+20T>C
|
|
|
|
NM_000277.3(PAH):c.842+20T>G
|
|
|
|
NM_000277.3(PAH):c.842+2T>A
|
rs62514955
|
|
|
NM_000277.3(PAH):c.842+4A>G
|
rs1555204434
|
|
|
NM_000277.3(PAH):c.842C>A (p.Pro281His)
|
rs5030851
|
|
|
NM_000277.3(PAH):c.842C>G (p.Pro281Arg)
|
rs5030851
|
|
|
NM_000277.3(PAH):c.843-11C>G
|
|
|
|
NM_000277.3(PAH):c.843-8T>C
|
rs2136645006
|
|
|
NM_000277.3(PAH):c.843-9G>C
|
rs2136645008
|
|
|
NM_000277.3(PAH):c.844G>A (p.Asp282Asn)
|
rs199475582
|
|
|
NM_000277.3(PAH):c.845A>G (p.Asp282Gly)
|
rs199475660
|
|
|
NM_000277.3(PAH):c.856G>A (p.Glu286Lys)
|
rs62508739
|
|
|
NM_000277.3(PAH):c.858G>A (p.Glu286=)
|
rs556021587
|
|
|
NM_000277.3(PAH):c.861G>T (p.Leu287=)
|
rs754686336
|
|
|
NM_000277.3(PAH):c.867A>T (p.Gly289=)
|
|
|
|
NM_000277.3(PAH):c.868C>T (p.His290Tyr)
|
rs1486763160
|
|
|
NM_000277.3(PAH):c.869A>T (p.His290Leu)
|
rs62642919
|
|
|
NM_000277.3(PAH):c.870T>A (p.His290Gln)
|
|
|
|
NM_000277.3(PAH):c.873_880del (p.Pro292fs)
|
|
|
|
NM_000277.3(PAH):c.876C>A (p.Pro292=)
|
|
|
|
NM_000277.3(PAH):c.880T>A (p.Phe294Ile)
|
rs1565846198
|
|
|
NM_000277.3(PAH):c.887A>G (p.Asp296Gly)
|
rs281865446
|
|
|
NM_000277.3(PAH):c.888T>C (p.Asp296=)
|
|
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
|
NM_000277.3(PAH):c.899C>G (p.Ala300Gly)
|
|
|
|
NM_000277.3(PAH):c.899C>T (p.Ala300Val)
|
rs199475609
|
|
|
NM_000277.3(PAH):c.901del (p.Gln301fs)
|
|
|
|
NM_000277.3(PAH):c.907del (p.Ser303fs)
|
rs62642920
|
|
|
NM_000277.3(PAH):c.912+15T>G
|
|
|
|
NM_000277.3(PAH):c.912+18dup
|
|
|
|
NM_000277.3(PAH):c.912+20G>T
|
|
|
|
NM_000277.3(PAH):c.912+3A>C
|
rs281865450
|
|
|
NM_000277.3(PAH):c.912+9T>C
|
|
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
|
NM_000277.3(PAH):c.913-18A>G
|
|
|
|
NM_000277.3(PAH):c.913-2A>C
|
rs1555203951
|
|
|
NM_000277.3(PAH):c.913-2A>G
|
rs1555203951
|
|
|
NM_000277.3(PAH):c.913-5T>C
|
|
|
|
NM_000277.3(PAH):c.913-8A>C
|
|
|
|
NM_000277.3(PAH):c.913-9C>T
|
rs2136639713
|
|
|
NM_000277.3(PAH):c.920G>A (p.Gly307Asp)
|
rs2136639683
|
|
|
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
|
|
|
|
NM_000277.3(PAH):c.921C>T (p.Gly307=)
|
rs920882128
|
|
|
NM_000277.3(PAH):c.926C>A (p.Ala309Asp)
|
rs62642935
|
|
|
NM_000277.3(PAH):c.927C>T (p.Ala309=)
|
rs1449406538
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
|
NM_000277.3(PAH):c.930T>C (p.Ser310=)
|
|
|
|
NM_000277.3(PAH):c.930_940del (p.Ser310_Leu311insTer)
|
rs62651568
|
|
|
NM_000277.3(PAH):c.935G>T (p.Gly312Val)
|
rs62642915
|
|
|
NM_000277.3(PAH):c.936T>A (p.Gly312=)
|
rs776778122
|
|
|
NM_000277.3(PAH):c.938C>A (p.Ala313Glu)
|
rs62642914
|
|
|
NM_000277.3(PAH):c.938C>T (p.Ala313Val)
|
rs62642914
|
|
|
NM_000277.3(PAH):c.940C>T (p.Pro314Ser)
|
rs199475650
|
|
|
NM_000277.3(PAH):c.945T>A (p.Asp315Glu)
|
rs1180470263
|
|
|
NM_000277.3(PAH):c.947A>T (p.Glu316Val)
|
rs1874873096
|
|
|
NM_000277.3(PAH):c.950A>G (p.Tyr317Cys)
|
rs2136639547
|
|
|
NM_000277.3(PAH):c.951C>T (p.Tyr317=)
|
rs2136639538
|
|
|
NM_000277.3(PAH):c.952A>G (p.Ile318Val)
|
|
|
|
NM_000277.3(PAH):c.954T>C (p.Ile318=)
|
rs2136639524
|
|
|
NM_000277.3(PAH):c.957_958insTT (p.Lys320fs)
|
|
|
|
NM_000277.3(PAH):c.960G>C (p.Lys320Asn)
|
rs199475615
|
|
|
NM_000277.3(PAH):c.969+14C>G
|
|
|
|
NM_000277.3(PAH):c.969+14C>T
|
|
|
|
NM_000277.3(PAH):c.969+16C>T
|
|
|
|
NM_000277.3(PAH):c.969+18C>T
|
|
|
|
NM_000277.3(PAH):c.969+19T>C
|
|
|
|
NM_000277.3(PAH):c.969+1G>A
|
rs62508584
|
|
|
NM_000277.3(PAH):c.969+2T>G
|
rs1477313214
|
|
|
NM_000277.3(PAH):c.969+5G>A
|
rs62508637
|
|
|
NM_000277.3(PAH):c.969+9C>G
|
rs1448283369
|
|
|
NM_000277.3(PAH):c.970-7A>T
|
rs745670264
|
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
|
NM_000277.3(PAH):c.975C>G (p.Tyr325Ter)
|
rs62508573
|
|
|
NM_000277.3(PAH):c.977G>A (p.Trp326Ter)
|
rs62514959
|
|
|
NM_000277.3(PAH):c.983C>T (p.Thr328Ile)
|
rs886042096
|
|
|
NM_000277.3(PAH):c.98G>T (p.Gly33Val)
|
|
|
|
NM_000277.3(PAH):c.990G>A (p.Glu330=)
|
|
|
|
NM_000277.3(PAH):c.990G>C (p.Glu330Asp)
|
rs62508580
|
|
|
NM_000277.3(PAH):c.992T>C (p.Phe331Ser)
|
rs199475614
|
|
|
NM_000277.3(PAH):c.992T>G (p.Phe331Cys)
|
rs199475614
|
|
|
NM_000277.3(PAH):c.993T>C (p.Phe331=)
|
|
|
|
NM_000277.3(PAH):c.999C>G (p.Leu333=)
|
rs777221457
|
|
|
NM_000277.3(PAH):c.999C>T (p.Leu333=)
|
rs777221457
|
|
|
NM_000281.4(PCBD1):c.102C>T (p.Ile34=)
|
|
|
|
NM_000281.4(PCBD1):c.108_118del (p.Lys36fs)
|
|
|
|
NM_000281.4(PCBD1):c.111G>A (p.Gln37=)
|
|
|
|
NM_000281.4(PCBD1):c.111del (p.Gln37fs)
|
|
|
|
NM_000281.4(PCBD1):c.126C>T (p.Asp42=)
|
|
|
|
NM_000281.4(PCBD1):c.135+12G>C
|
|
|
|
NM_000281.4(PCBD1):c.135+16G>A
|
|
|
|
NM_000281.4(PCBD1):c.135+7C>T
|
|
|
|
NM_000281.4(PCBD1):c.136-11C>T
|
|
|
|
NM_000281.4(PCBD1):c.136-12C>G
|
|
|
|
NM_000281.4(PCBD1):c.136-16C>T
|
|
|
|
NM_000281.4(PCBD1):c.136-18C>T
|
|
|
|
NM_000281.4(PCBD1):c.141T>C (p.Phe47=)
|
|
|
|
NM_000281.4(PCBD1):c.162C>T (p.Ala54=)
|
|
|
|
NM_000281.4(PCBD1):c.165G>A (p.Leu55=)
|
|
|
|
NM_000281.4(PCBD1):c.189T>C (p.His63=)
|
|
|
|
NM_000281.4(PCBD1):c.201dup (p.Asn68Ter)
|
|
|
|
NM_000281.4(PCBD1):c.216+15G>T
|
|
|
|
NM_000281.4(PCBD1):c.216+17G>A
|
|
|
|
NM_000281.4(PCBD1):c.217-11T>C
|
|
|
|
NM_000281.4(PCBD1):c.217-12G>A
|
|
|
|
NM_000281.4(PCBD1):c.217-12G>T
|
|
|
|
NM_000281.4(PCBD1):c.217-16T>G
|
|
|
|
NM_000281.4(PCBD1):c.222C>T (p.His74=)
|
|
|
|
NM_000281.4(PCBD1):c.236C>T (p.Thr79Ile)
|
rs121913014
|
|
|
NM_000281.4(PCBD1):c.24G>A (p.Leu8=)
|
|
|
|
NM_000281.4(PCBD1):c.252C>G (p.Gly84=)
|
|
|
|
NM_000281.4(PCBD1):c.252C>T (p.Gly84=)
|
|
|
|
NM_000281.4(PCBD1):c.262C>A (p.Arg88=)
|
|
|
|
NM_000281.4(PCBD1):c.270A>C (p.Ile90=)
|
|
|
|
NM_000281.4(PCBD1):c.281G>T (p.Ser94Ile)
|
rs1846540236
|
|
|
NM_000281.4(PCBD1):c.286A>G (p.Ile96Val)
|
|
|
|
NM_000281.4(PCBD1):c.288C>T (p.Ile96=)
|
|
|
|
NM_000281.4(PCBD1):c.3+11G>T
|
|
|
|
NM_000281.4(PCBD1):c.3+13G>T
|
|
|
|
NM_000281.4(PCBD1):c.3+14T>A
|
|
|
|
NM_000281.4(PCBD1):c.3+18C>T
|
|
|
|
NM_000281.4(PCBD1):c.3+1G>T
|
|
|
|
NM_000281.4(PCBD1):c.3+9A>G
|
|
|
|
NM_000281.4(PCBD1):c.300A>C (p.Ala100=)
|
|
|
|
NM_000281.4(PCBD1):c.308T>A (p.Met103Lys)
|
|
|
|
NM_000281.4(PCBD1):c.313T>C (p.Ter105Gln)
|
rs770334825
|
|
|
NM_000281.4(PCBD1):c.37A>T (p.Arg13Trp)
|
|
|
|
NM_000281.4(PCBD1):c.4-11C>T
|
|
|
|
NM_000281.4(PCBD1):c.4-12del
|
|
|
|
NM_000281.4(PCBD1):c.4-12dup
|
|
|
|
NM_000281.4(PCBD1):c.4-18T>G
|
|
|
|
NM_000281.4(PCBD1):c.4-19G>C
|
|
|
|
NM_000281.4(PCBD1):c.4-21_4-20del
|
|
|
|
NM_000281.4(PCBD1):c.4-4C>G
|
rs1303323172
|
|
|
NM_000281.4(PCBD1):c.4-6T>C
|
|
|
|
NM_000281.4(PCBD1):c.4-7C>A
|
|
|
|
NM_000281.4(PCBD1):c.45G>A (p.Gln15=)
|
|
|
|
NM_000281.4(PCBD1):c.45G>C (p.Gln15His)
|
|
|
|
NM_000281.4(PCBD1):c.46del (p.Leu16fs)
|
rs397518414
|
|
|
NM_000281.4(PCBD1):c.48G>T (p.Leu16=)
|
|
|
|
NM_000281.4(PCBD1):c.5C>T (p.Ala2Val)
|
rs1846575724
|
|
|
NM_000281.4(PCBD1):c.60G>C (p.Leu20=)
|
|
|
|
NM_000281.4(PCBD1):c.61A>C (p.Arg21=)
|
|
|
|
NM_000281.4(PCBD1):c.66T>C (p.Ala22=)
|
|
|
|
NM_000281.4(PCBD1):c.72G>A (p.Gly24=)
|
|
|
|
NM_000282.4(PCCA):c.1003_1012del (p.Val335fs)
|
|
|
|
NM_000282.4(PCCA):c.1005G>A (p.Val335=)
|
|
|
|
NM_000282.4(PCCA):c.1007A>G (p.Glu336Gly)
|
rs2063428007
|
|
|
NM_000282.4(PCCA):c.1016T>A (p.Val339Glu)
|
|
|
|
NM_000282.4(PCCA):c.1020C>T (p.Asp340=)
|
rs2152588978
|
|
|
NM_000282.4(PCCA):c.1023dup (p.Lys342Ter)
|
rs398123297
|
|
|
NM_000282.4(PCCA):c.1026G>A (p.Lys342=)
|
rs2152589052
|
|
|
NM_000282.4(PCCA):c.1026GAA[1] (p.Lys343del)
|
|
|
|
NM_000282.4(PCCA):c.1030A>G (p.Asn344Asp)
|
|
|
|
NM_000282.4(PCCA):c.1031A>G (p.Asn344Ser)
|
rs2063430702
|
|
|
NM_000282.4(PCCA):c.1031A>T (p.Asn344Ile)
|
|
|
|
NM_000282.4(PCCA):c.1033T>G (p.Phe345Val)
|
rs1014756935
|
|
|
NM_000282.4(PCCA):c.1037A>G (p.Tyr346Cys)
|
rs542465356
|
|
|
NM_000282.4(PCCA):c.1040T>C (p.Phe347Ser)
|
rs2152589132
|
|
|
NM_000282.4(PCCA):c.1042T>C (p.Leu348=)
|
rs2152589147
|
|
|
NM_000282.4(PCCA):c.1044G>A (p.Leu348=)
|
|
|
|
NM_000282.4(PCCA):c.105+11A>G
|
|
|
|
NM_000282.4(PCCA):c.105+1G>A
|
rs879253804
|
|
|
NM_000282.4(PCCA):c.105+20C>T
|
|
|
|
NM_000282.4(PCCA):c.105+8G>A
|
|
|
|
NM_000282.4(PCCA):c.105+9C>T
|
|
|
|
NM_000282.4(PCCA):c.1055C>T (p.Thr352Ile)
|
rs2063432405
|
|
|
NM_000282.4(PCCA):c.106-11T>C
|
|
|
|
NM_000282.4(PCCA):c.106-12C>A
|
|
|
|
NM_000282.4(PCCA):c.106-12del
|
rs2152250467
|
|
|
NM_000282.4(PCCA):c.106-17C>T
|
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
|
NM_000282.4(PCCA):c.106-5del
|
|
|
|
NM_000282.4(PCCA):c.106-5dup
|
|
|
|
NM_000282.4(PCCA):c.106-9T>G
|
|
|
|
NM_000282.4(PCCA):c.1062C>A (p.Leu354=)
|
|
|
|
NM_000282.4(PCCA):c.1065+11C>T
|
|
|
|
NM_000282.4(PCCA):c.1065+18T>A
|
rs1458093935
|
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
|
NM_000282.4(PCCA):c.1065+3AAC[2]
|
rs1467232371
|
|
|
NM_000282.4(PCCA):c.1065+8C>T
|
|
|
|
NM_000282.4(PCCA):c.1066-10G>C
|
rs1486164333
|
|
|
NM_000282.4(PCCA):c.1066-15A>G
|
|
|
|
NM_000282.4(PCCA):c.1066-4G>T
|
|
|
|
NM_000282.4(PCCA):c.1066-7C>G
|
|
|
|
NM_000282.4(PCCA):c.1066-8C>T
|
|
|
|
NM_000282.4(PCCA):c.1067_1068insCT (p.Glu357fs)
|
rs2152683826
|
|
|
NM_000282.4(PCCA):c.1071G>T (p.Glu357Asp)
|
rs761295534
|
|
|
NM_000282.4(PCCA):c.1075C>G (p.Pro359Ala)
|
|
|
|
NM_000282.4(PCCA):c.1099C>T (p.Leu367=)
|
rs1328083857
|
|
|
NM_000282.4(PCCA):c.1101G>A (p.Leu367=)
|
|
|
|
NM_000282.4(PCCA):c.1105C>G (p.Leu369Val)
|
|
|
|
NM_000282.4(PCCA):c.1113G>A (p.Gln371=)
|
rs2152683893
|
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
|
NM_000282.4(PCCA):c.1127T>C (p.Val376Ala)
|
|
|
|
NM_000282.4(PCCA):c.1131T>A (p.Ala377=)
|
|
|
|
NM_000282.4(PCCA):c.1132A>T (p.Lys378Ter)
|
|
|
|
NM_000282.4(PCCA):c.1138T>C (p.Tyr380His)
|
rs1303977643
|
|
|
NM_000282.4(PCCA):c.1138dup (p.Tyr380fs)
|
|
|
|
NM_000282.4(PCCA):c.1141C>T (p.Pro381Ser)
|
rs2152683965
|
|
|
NM_000282.4(PCCA):c.1145T>G (p.Leu382Arg)
|
|
|
|
NM_000282.4(PCCA):c.114G>A (p.Leu38=)
|
|
|
|
NM_000282.4(PCCA):c.1152C>A (p.His384Gln)
|
|
|
|
NM_000282.4(PCCA):c.1155A>G (p.Lys385=)
|
|
|
|
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly)
|
rs1484267212
|
|
|
NM_000282.4(PCCA):c.1162G>A (p.Asp388Asn)
|
|
|
|
NM_000282.4(PCCA):c.1164T>C (p.Asp388=)
|
rs2152684012
|
|
|
NM_000282.4(PCCA):c.1168C>T (p.Arg390Cys)
|
|
|
|
NM_000282.4(PCCA):c.1169G>A (p.Arg390His)
|
|
|
|
NM_000282.4(PCCA):c.1171A>G (p.Ile391Val)
|
|
|
|
NM_000282.4(PCCA):c.1175A>G (p.Asn392Ser)
|
rs202015762
|
|
|
NM_000282.4(PCCA):c.1177G>A (p.Gly393Ser)
|
|
|
|
NM_000282.4(PCCA):c.1178G>A (p.Gly393Asp)
|
|
|
|
NM_000282.4(PCCA):c.1178G>C (p.Gly393Ala)
|
|
|
|
NM_000282.4(PCCA):c.1178dup (p.Trp394fs)
|
|
|
|
NM_000282.4(PCCA):c.1179C>A (p.Gly393=)
|
rs1430193054
|
|
|
NM_000282.4(PCCA):c.1184C>T (p.Ala395Val)
|
rs1354175358
|
|
|
NM_000282.4(PCCA):c.1189G>T (p.Glu397Ter)
|
rs1295357399
|
|
|
NM_000282.4(PCCA):c.1190_1193del (p.Glu397fs)
|
rs879253806
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
|
NM_000282.4(PCCA):c.1197G>C (p.Arg399=)
|
|
|
|
NM_000282.4(PCCA):c.1209+10A>G
|
rs764226410
|
|
|
NM_000282.4(PCCA):c.1209+13G>C
|
|
|
|
NM_000282.4(PCCA):c.1209+14T>G
|
|
|
|
NM_000282.4(PCCA):c.1209+18G>A
|
|
|
|
NM_000282.4(PCCA):c.1209+18G>T
|
|
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
|
NM_000282.4(PCCA):c.1209+6dup
|
rs746645726
|
|
|
NM_000282.4(PCCA):c.1209+8G>C
|
|
|
|
NM_000282.4(PCCA):c.1209G>A (p.Glu403=)
|
rs775767058
|
|
|
NM_000282.4(PCCA):c.1210-14C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-15C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-16T>C
|
|
|
|
NM_000282.4(PCCA):c.1210-19C>T
|
|
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
|
NM_000282.4(PCCA):c.1210-4T>C
|
rs1415422969
|
|
|
NM_000282.4(PCCA):c.1210-9A>T
|
|
|
|
NM_000282.4(PCCA):c.1212C>T (p.Asp404=)
|
rs2152686072
|
|
|
NM_000282.4(PCCA):c.1213C>G (p.Pro405Ala)
|
rs772750102
|
|
|
NM_000282.4(PCCA):c.1215C>T (p.Pro405=)
|
|
|
|
NM_000282.4(PCCA):c.1219A>G (p.Lys407Glu)
|
rs1190274343
|
|
|
NM_000282.4(PCCA):c.1220A>G (p.Lys407Arg)
|
|
|
|
NM_000282.4(PCCA):c.1221G>A (p.Lys407=)
|
rs2152686094
|
|
|
NM_000282.4(PCCA):c.1226_1227del (p.Phe409fs)
|
|
|
|
NM_000282.4(PCCA):c.1230T>C (p.Gly410=)
|
|
|
|
NM_000282.4(PCCA):c.1239T>G (p.Ser413=)
|
|
|
|
NM_000282.4(PCCA):c.1240A>G (p.Ile414Val)
|
|
|
|
NM_000282.4(PCCA):c.1245G>A (p.Gly415=)
|
|
|
|
NM_000282.4(PCCA):c.1249T>C (p.Leu417=)
|
rs2066177786
|
|
|
NM_000282.4(PCCA):c.1258T>C (p.Tyr420His)
|
|
|
|
NM_000282.4(PCCA):c.1263A>G (p.Gln421=)
|
|
|
|
NM_000282.4(PCCA):c.1265A>G (p.Glu422Gly)
|
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
|
NM_000282.4(PCCA):c.126A>G (p.Arg42=)
|
rs763916930
|
|
|
NM_000282.4(PCCA):c.1271T>C (p.Leu424Ser)
|
|
|
|
NM_000282.4(PCCA):c.1276C>T (p.Leu426=)
|
|
|
|
NM_000282.4(PCCA):c.127C>T (p.Gln43Ter)
|
rs2047400320
|
|
|
NM_000282.4(PCCA):c.1284+10T>G
|
|
|
|
NM_000282.4(PCCA):c.1284+10dup
|
rs1309984509
|
|
|
NM_000282.4(PCCA):c.1284+14C>T
|
|
|
|
NM_000282.4(PCCA):c.1284+18_1284+34del
|
|
|
|
NM_000282.4(PCCA):c.1284+19A>G
|
rs2066182757
|
|
|
NM_000282.4(PCCA):c.1284+7C>A
|
|
|
|
NM_000282.4(PCCA):c.1285-12_1285-8del
|
rs2066517246
|
|
|
NM_000282.4(PCCA):c.1285-13_1285-6del
|
rs535982202
|
|
|
NM_000282.4(PCCA):c.1285-14T>C
|
rs1374058554
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
|
NM_000282.4(PCCA):c.1285-7C>T
|
rs748531448
|
|
|
NM_000282.4(PCCA):c.1285-7dup
|
rs2066518077
|
|
|
NM_000282.4(PCCA):c.1285-8dup
|
rs2066517246
|
|
|
NM_000282.4(PCCA):c.1285-9T>C
|
|
|
|
NM_000282.4(PCCA):c.1288C>G (p.Arg430Gly)
|
rs776821944
|
|
|
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
|
rs776821944
|
|
|
NM_000282.4(PCCA):c.128A>G (p.Gln43Arg)
|
|
|
|
NM_000282.4(PCCA):c.129G>A (p.Gln43=)
|
|
|
|
NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)
|
rs759257021
|
|
|
NM_000282.4(PCCA):c.1311A>T (p.Pro437=)
|
rs2152692646
|
|
|
NM_000282.4(PCCA):c.1312G>T (p.Gly438Ter)
|
rs2152692650
|
|
|
NM_000282.4(PCCA):c.1318G>A (p.Asp440Asn)
|
|
|
|
NM_000282.4(PCCA):c.1323T>G (p.Ile441Met)
|
|
|
|
NM_000282.4(PCCA):c.1339C>T (p.Pro447Ser)
|
|
|
|
NM_000282.4(PCCA):c.1353+10A>C
|
rs1595236362
|
|
|
NM_000282.4(PCCA):c.1353+10A>G
|
rs1595236362
|
|
|
NM_000282.4(PCCA):c.1353+10del
|
|
|
|
NM_000282.4(PCCA):c.1353+12T>G
|
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
|
NM_000282.4(PCCA):c.1353+9_1353+13del
|
|
|
|
NM_000282.4(PCCA):c.1354-13T>C
|
|
|
|
NM_000282.4(PCCA):c.1354-14T>G
|
|
|
|
NM_000282.4(PCCA):c.1354-17T>G
|
|
|
|
NM_000282.4(PCCA):c.1354-20_1354-17del
|
|
|
|
NM_000282.4(PCCA):c.1354-3dup
|
|
|
|
NM_000282.4(PCCA):c.1354-8G>C
|
|
|
|
NM_000282.4(PCCA):c.1356A>G (p.Leu452=)
|
|
|
|
NM_000282.4(PCCA):c.1362A>C (p.Thr454=)
|
rs765949778
|
|
|
NM_000282.4(PCCA):c.1364_1365del (p.Tyr455fs)
|
|
|
|
NM_000282.4(PCCA):c.1365T>C (p.Tyr455=)
|
rs1225545034
|
|
|
NM_000282.4(PCCA):c.1366G>A (p.Gly456Ser)
|
rs1566911665
|
|
|
NM_000282.4(PCCA):c.136A>G (p.Met46Val)
|
rs774158004
|
|
|
NM_000282.4(PCCA):c.1374T>C (p.Asp458=)
|
|
|
|
NM_000282.4(PCCA):c.1381G>A (p.Glu461Lys)
|
|
|
|
NM_000282.4(PCCA):c.1392G>A (p.Lys464=)
|
rs2152697440
|
|
|
NM_000282.4(PCCA):c.1397T>C (p.Met466Thr)
|
rs370549437
|
|
|
NM_000282.4(PCCA):c.1399G>A (p.Ala467Thr)
|
|
|
|
NM_000282.4(PCCA):c.1404T>G (p.Asp468Glu)
|
rs769970677
|
|
|
NM_000282.4(PCCA):c.1407A>T (p.Ala469=)
|
rs2152697468
|
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
|
NM_000282.4(PCCA):c.1408C>T (p.Leu470=)
|
rs1566911871
|
|
|
NM_000282.4(PCCA):c.1415A>G (p.Asn472Ser)
|
|
|
|
NM_000282.4(PCCA):c.1415dup (p.Asn472fs)
|
|
|
|
NM_000282.4(PCCA):c.1416C>T (p.Asn472=)
|
|
|
|
NM_000282.4(PCCA):c.1418_1419del (p.Tyr473fs)
|
|
|
|
NM_000282.4(PCCA):c.1419T>C (p.Tyr473=)
|
rs1437714151
|
|
|
NM_000282.4(PCCA):c.141G>T (p.Val47=)
|
|
|
|
NM_000282.4(PCCA):c.1422T>C (p.Val474=)
|
rs2066771458
|
|
|
NM_000282.4(PCCA):c.1423A>T (p.Ile475Phe)
|
rs35719359
|
|
|
NM_000282.4(PCCA):c.1427G>A (p.Arg476Gln)
|
|
|
|
NM_000282.4(PCCA):c.1429+10A>G
|
|
|
|
NM_000282.4(PCCA):c.1429+13A>T
|
|
|
|
NM_000282.4(PCCA):c.1429+13_1429+14del
|
|
|
|
NM_000282.4(PCCA):c.1429+15T>G
|
|
|
|
NM_000282.4(PCCA):c.1429+18C>T
|
rs1445188783
|
|
|
NM_000282.4(PCCA):c.1429+20C>T
|
rs2152697607
|
|
|
NM_000282.4(PCCA):c.1429G>A (p.Gly477Ser)
|
|
|
|
NM_000282.4(PCCA):c.1430-14C>A
|
|
|
|
NM_000282.4(PCCA):c.1430-15T>C
|
|
|
|
NM_000282.4(PCCA):c.1430-16A>G
|
|
|
|
NM_000282.4(PCCA):c.1430-17T>C
|
|
|
|
NM_000282.4(PCCA):c.1430-18A>T
|
rs770776146
|
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
|
NM_000282.4(PCCA):c.1430-8A>T
|
|
|
|
NM_000282.4(PCCA):c.1430-9dup
|
|
|
|
NM_000282.4(PCCA):c.1438C>A (p.His480Asn)
|
|
|
|
NM_000282.4(PCCA):c.1446T>C (p.Ile482=)
|
|
|
|
NM_000282.4(PCCA):c.1449A>G (p.Ala483=)
|
rs764611115
|
|
|
NM_000282.4(PCCA):c.1449A>T (p.Ala483=)
|
|
|
|
NM_000282.4(PCCA):c.1453C>T (p.Leu485Phe)
|
rs1302157004
|
|
|
NM_000282.4(PCCA):c.1455T>C (p.Leu485=)
|
rs752220238
|
|
|
NM_000282.4(PCCA):c.1456C>T (p.Arg486Ter)
|
rs2069404553
|
|
|
NM_000282.4(PCCA):c.1458A>C (p.Arg486=)
|
rs2152733872
|
|
|
NM_000282.4(PCCA):c.145del (p.Arg49fs)
|
rs2047402577
|
|
|
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp)
|
rs767997785
|
|
|
NM_000282.4(PCCA):c.1469T>C (p.Ile490Thr)
|
|
|
|
NM_000282.4(PCCA):c.1476A>T (p.Ser492=)
|
|
|
|
NM_000282.4(PCCA):c.1477del (p.Arg493fs)
|
rs746733688
|
|
|
NM_000282.4(PCCA):c.1478G>A (p.Arg493His)
|
|
|
|
NM_000282.4(PCCA):c.1482T>C (p.Phe494=)
|
|
|
|
NM_000282.4(PCCA):c.1491A>G (p.Gly497=)
|
rs965243149
|
|
|
NM_000282.4(PCCA):c.1494C>T (p.Asp498=)
|
rs977076579
|
|
|
NM_000282.4(PCCA):c.1495del (p.Ile499fs)
|
|
|
|
NM_000282.4(PCCA):c.1496T>C (p.Ile499Thr)
|
|
|
|
NM_000282.4(PCCA):c.1506A>G (p.Lys502=)
|
|
|
|
NM_000282.4(PCCA):c.1512C>G (p.Leu504=)
|
|
|
|
NM_000282.4(PCCA):c.1512C>T (p.Leu504=)
|
|
|
|
NM_000282.4(PCCA):c.1516G>T (p.Asp506Tyr)
|
|
|
|
NM_000282.4(PCCA):c.1519G>T (p.Val507Leu)
|
rs146061036
|
|
|
NM_000282.4(PCCA):c.1522T>C (p.Tyr508His)
|
|
|
|
NM_000282.4(PCCA):c.1524T>C (p.Tyr508=)
|
rs2152734002
|
|
|
NM_000282.4(PCCA):c.1533C>T (p.Gly511=)
|
|
|
|
NM_000282.4(PCCA):c.1534T>G (p.Phe512Val)
|
rs779659813
|
|
|
NM_000282.4(PCCA):c.1539del (p.Gly514fs)
|
rs1566945996
|
|
|
NM_000282.4(PCCA):c.153T>A (p.Leu51=)
|
|
|
|
NM_000282.4(PCCA):c.1540+13T>C
|
rs2069419811
|
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
|
NM_000282.4(PCCA):c.1540+7A>G
|
rs761046263
|
|
|
NM_000282.4(PCCA):c.1540+9G>A
|
|
|
|
NM_000282.4(PCCA):c.1540+9G>T
|
|
|
|
NM_000282.4(PCCA):c.1541-12_1541-9del
|
rs763530693
|
|
|
NM_000282.4(PCCA):c.1541-14T>C
|
|
|
|
NM_000282.4(PCCA):c.1541-16G>A
|
|
|
|
NM_000282.4(PCCA):c.1541-17T>C
|
|
|
|
NM_000282.4(PCCA):c.1541-19G>A
|
|
|
|
NM_000282.4(PCCA):c.1541-19G>T
|
|
|
|
NM_000282.4(PCCA):c.1541-19_1541-12del
|
|
|
|
NM_000282.4(PCCA):c.1541-19del
|
rs773809966
|
|
|
NM_000282.4(PCCA):c.1541-20_1541-9del
|
|
|
|
NM_000282.4(PCCA):c.1541-5C>T
|
|
|
|
NM_000282.4(PCCA):c.1541-6C>T
|
|
|
|
NM_000282.4(PCCA):c.1558_1559dup (p.Ser520fs)
|
|
|
|
NM_000282.4(PCCA):c.1561G>T (p.Glu521Ter)
|
rs2071086995
|
|
|
NM_000282.4(PCCA):c.1566G>T (p.Lys522Asn)
|
rs2071087775
|
|
|
NM_000282.4(PCCA):c.1567A>T (p.Asn523Tyr)
|
|
|
|
NM_000282.4(PCCA):c.1568A>C (p.Asn523Thr)
|
rs2152751879
|
|
|
NM_000282.4(PCCA):c.1569C>G (p.Asn523Lys)
|
|
|
|
NM_000282.4(PCCA):c.156T>C (p.Gly52=)
|
|
|
|
NM_000282.4(PCCA):c.1575A>G (p.Leu525=)
|
|
|
|
NM_000282.4(PCCA):c.1589C>T (p.Ser530Leu)
|
rs2071090257
|
|
|
NM_000282.4(PCCA):c.1590A>G (p.Ser530=)
|
rs2152751916
|
|
|
NM_000282.4(PCCA):c.1591T>C (p.Ser531Pro)
|
|
|
|
NM_000282.4(PCCA):c.1593A>G (p.Ser531=)
|
rs2152751931
|
|
|
NM_000282.4(PCCA):c.1594T>C (p.Leu532=)
|
rs2152751935
|
|
|
NM_000282.4(PCCA):c.1596G>T (p.Leu532Phe)
|
|
|
|
NM_000282.4(PCCA):c.1598_1601del (p.Phe533fs)
|
rs1344574242
|
|
|
NM_000282.4(PCCA):c.1599T>C (p.Phe533=)
|
rs2152751951
|
|
|
NM_000282.4(PCCA):c.159A>C (p.Ser53=)
|
|
|
|
NM_000282.4(PCCA):c.159A>T (p.Ser53=)
|
|
|
|
NM_000282.4(PCCA):c.1612T>A (p.Leu538Ile)
|
|
|
|
NM_000282.4(PCCA):c.1620A>G (p.Ala540=)
|
rs1566960733
|
|
|
NM_000282.4(PCCA):c.1622A>G (p.Gln541Arg)
|
rs2152751997
|
|
|
NM_000282.4(PCCA):c.1626T>G (p.His542Gln)
|
|
|
|
NM_000282.4(PCCA):c.1643+11T>C
|
rs2152752064
|
|
|
NM_000282.4(PCCA):c.1643+12C>A
|
|
|
|
NM_000282.4(PCCA):c.1643+15T>C
|
|
|
|
NM_000282.4(PCCA):c.1643+17A>G
|
|
|
|
NM_000282.4(PCCA):c.1643+6G>A
|
|
|
|
NM_000282.4(PCCA):c.1643+8_1643+13del
|
rs2152752048
|
|
|
NM_000282.4(PCCA):c.1643+9G>A
|
|
|
|
NM_000282.4(PCCA):c.1644-18C>T
|
rs1431833092
|
|
|
NM_000282.4(PCCA):c.1644-7A>G
|
|
|
|
NM_000282.4(PCCA):c.1644-9C>T
|
rs1425956784
|
|
|
NM_000282.4(PCCA):c.1650T>G (p.Pro550=)
|
|
|
|
NM_000282.4(PCCA):c.1651G>A (p.Val551Ile)
|
rs61749895
|
|
|
NM_000282.4(PCCA):c.1665C>T (p.Asp555=)
|
rs1461874924
|
|
|
NM_000282.4(PCCA):c.1666A>G (p.Ile556Val)
|
rs2152811800
|
|
|
NM_000282.4(PCCA):c.1671C>G (p.Ala557=)
|
rs2075362375
|
|
|
NM_000282.4(PCCA):c.1680G>A (p.Glu560=)
|
|
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
|
NM_000282.4(PCCA):c.1687G>A (p.Val563Ile)
|
|
|
|
NM_000282.4(PCCA):c.1694T>C (p.Leu565Ser)
|
|
|
|
NM_000282.4(PCCA):c.1695G>A (p.Leu565=)
|
rs1595621243
|
|
|
NM_000282.4(PCCA):c.1697A>G (p.His566Arg)
|
|
|
|
NM_000282.4(PCCA):c.16del (p.Val6fs)
|
|
|
|
NM_000282.4(PCCA):c.1705G>A (p.Val569Ile)
|
|
|
|
NM_000282.4(PCCA):c.1713C>G (p.Thr571=)
|
|
|
|
NM_000282.4(PCCA):c.1714G>A (p.Val572Ile)
|
|
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
|
NM_000282.4(PCCA):c.171T>C (p.Asp57=)
|
|
|
|
NM_000282.4(PCCA):c.1729A>G (p.Asn577Asp)
|
rs1475268855
|
|
|
NM_000282.4(PCCA):c.172C>T (p.Pro58Ser)
|
|
|
|
NM_000282.4(PCCA):c.1731T>A (p.Asn577Lys)
|
rs2152811890
|
|
|
NM_000282.4(PCCA):c.1731T>C (p.Asn577=)
|
rs2152811890
|
|
|
NM_000282.4(PCCA):c.1740G>A (p.Val580=)
|
rs2152811913
|
|
|
NM_000282.4(PCCA):c.1746+12T>C
|
|
|
|
NM_000282.4(PCCA):c.1746+14_1746+17del
|
|
|
|
NM_000282.4(PCCA):c.1746+15T>C
|
|
|
|
NM_000282.4(PCCA):c.1746+17del
|
|
|
|
NM_000282.4(PCCA):c.1746+1G>A
|
rs2075369142
|
|
|
NM_000282.4(PCCA):c.1746+2T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-11T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-12G>A
|
|
|
|
NM_000282.4(PCCA):c.1747-15T>G
|
|
|
|
NM_000282.4(PCCA):c.1747-18T>C
|
|
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
|
NM_000282.4(PCCA):c.1747-20C>T
|
|
|
|
NM_000282.4(PCCA):c.1747-6C>T
|
|
|
|
NM_000282.4(PCCA):c.1747-7A>G
|
|
|
|
NM_000282.4(PCCA):c.1761G>A (p.Gly587=)
|
|
|
|
NM_000282.4(PCCA):c.1763C>A (p.Ser588Ter)
|
|
|
|
NM_000282.4(PCCA):c.1772_1778dup (p.Ser594fs)
|
|
|
|
NM_000282.4(PCCA):c.1773T>C (p.Asn591=)
|
rs1595860527
|
|
|
NM_000282.4(PCCA):c.1791C>T (p.Asn597=)
|
rs2079093623
|
|
|
NM_000282.4(PCCA):c.1792C>G (p.Leu598Val)
|
rs2079093758
|
|
|
NM_000282.4(PCCA):c.1799C>T (p.Ser600Leu)
|
|
|
|
NM_000282.4(PCCA):c.1800G>C (p.Ser600=)
|
rs761681712
|
|
|
NM_000282.4(PCCA):c.1800G>T (p.Ser600=)
|
rs761681712
|
|
|
NM_000282.4(PCCA):c.1803C>T (p.Pro601=)
|
|
|
|
NM_000282.4(PCCA):c.1804T>C (p.Leu602=)
|
|
|
|
NM_000282.4(PCCA):c.1806A>G (p.Leu602=)
|
rs2152893970
|
|
|
NM_000282.4(PCCA):c.1807T>C (p.Leu603=)
|
rs2079094668
|
|
|
NM_000282.4(PCCA):c.1809G>A (p.Leu603=)
|
|
|
|
NM_000282.4(PCCA):c.1812T>C (p.Ser604=)
|
rs2152893989
|
|
|
NM_000282.4(PCCA):c.1819G>A (p.Val607Ile)
|
|
|
|
NM_000282.4(PCCA):c.1819G>C (p.Val607Leu)
|
|
|
|
NM_000282.4(PCCA):c.183+15G>T
|
|
|
|
NM_000282.4(PCCA):c.183+19T>C
|
rs780105316
|
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
|
NM_000282.4(PCCA):c.183+3A>G
|
|
|
|
NM_000282.4(PCCA):c.183+4_183+7del
|
rs1555342581
|
|
|
NM_000282.4(PCCA):c.183+7A>G
|
rs369767655
|
|
|
NM_000282.4(PCCA):c.183+9T>G
|
rs2152251053
|
|
|
NM_000282.4(PCCA):c.1830T>C (p.Thr610=)
|
|
|
|
NM_000282.4(PCCA):c.1830T>G (p.Thr610=)
|
|
|
|
NM_000282.4(PCCA):c.1831C>T (p.Gln611Ter)
|
rs2152894046
|
|
|
NM_000282.4(PCCA):c.1835G>C (p.Arg612Thr)
|
rs1947530469
|
|
|
NM_000282.4(PCCA):c.183A>G (p.Lys61=)
|
|
|
|
NM_000282.4(PCCA):c.184-10C>G
|
|
|
|
NM_000282.4(PCCA):c.184-10C>T
|
rs2048349934
|
|
|
NM_000282.4(PCCA):c.184-11dup
|
|
|
|
NM_000282.4(PCCA):c.184-15T>G
|
rs1257547578
|
|
|
NM_000282.4(PCCA):c.184-17_184-16del
|
rs111778723
|
|
|
NM_000282.4(PCCA):c.184-19G>A
|
|
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
|
NM_000282.4(PCCA):c.184-9T>A
|
|
|
|
NM_000282.4(PCCA):c.184-9T>C
|
|
|
|
NM_000282.4(PCCA):c.1842C>G (p.Val614=)
|
|
|
|
NM_000282.4(PCCA):c.1842C>T (p.Val614=)
|
|
|
|
NM_000282.4(PCCA):c.1845+10584_1845+10585delinsTC
|
|
|
|
NM_000282.4(PCCA):c.1845+10G>T
|
rs1456360150
|
|
|
NM_000282.4(PCCA):c.1845+12A>G
|
|
|
|
NM_000282.4(PCCA):c.1845+13A>G
|
|
|
|
NM_000282.4(PCCA):c.1845+20C>A
|
|
|
|
NM_000282.4(PCCA):c.1845+21del
|
|
|
|
NM_000282.4(PCCA):c.1845+2T>G
|
|
|
|
NM_000282.4(PCCA):c.1845+8T>C
|
|
|
|
NM_000282.4(PCCA):c.1845+9T>C
|
|
|
|
NM_000282.4(PCCA):c.1846-10dup
|
|
|
|
NM_000282.4(PCCA):c.1846-13G>T
|
|
|
|
NM_000282.4(PCCA):c.1846-15_1846-14del
|
|
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
|
NM_000282.4(PCCA):c.1846-20A>G
|
|
|
|
NM_000282.4(PCCA):c.1846-6T>C
|
|
|
|
NM_000282.4(PCCA):c.1846-9_1846-6del
|
|
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
|
NM_000282.4(PCCA):c.1851T>G (p.Leu617=)
|
|
|
|
NM_000282.4(PCCA):c.1856G>C (p.Arg619Pro)
|
|
|
|
NM_000282.4(PCCA):c.1863A>C (p.Ala621=)
|
rs937736837
|
|
|
NM_000282.4(PCCA):c.1872C>T (p.Asn624=)
|
|
|
|
NM_000282.4(PCCA):c.1877G>A (p.Ser626Asn)
|
|
|
|
NM_000282.4(PCCA):c.1883A>C (p.Gln628Pro)
|
|
|
|
NM_000282.4(PCCA):c.1884G>A (p.Gln628=)
|
rs552141237
|
|
|
NM_000282.4(PCCA):c.1890T>C (p.Leu630=)
|
|
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
|
NM_000282.4(PCCA):c.1893T>C (p.Gly631=)
|
rs2152925693
|
|
|
NM_000282.4(PCCA):c.1896A>C (p.Thr632=)
|
rs61760965
|
|
|
NM_000282.4(PCCA):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_000282.4(PCCA):c.1898T>G (p.Val633Gly)
|
rs375617644
|
|
|
NM_000282.4(PCCA):c.1899+12A>G
|
|
|
|
NM_000282.4(PCCA):c.1899+14C>T
|
|
|
|
NM_000282.4(PCCA):c.1899+15A>G
|
rs1595942350
|
|
|
NM_000282.4(PCCA):c.1899+18C>A
|
|
|
|
NM_000282.4(PCCA):c.1899+21_1899+24del
|
|
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
|
NM_000282.4(PCCA):c.18C>G (p.Val6=)
|
|
|
|
NM_000282.4(PCCA):c.18C>T (p.Val6=)
|
rs752423629
|
|
|
NM_000282.4(PCCA):c.1900-14G>T
|
|
|
|
NM_000282.4(PCCA):c.1900-15T>C
|
|
|
|
NM_000282.4(PCCA):c.1900-15del
|
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
|
NM_000282.4(PCCA):c.1900-20G>T
|
|
|
|
NM_000282.4(PCCA):c.1900-7C>T
|
|
|
|
NM_000282.4(PCCA):c.1900-8C>T
|
rs1480940423
|
|
|
NM_000282.4(PCCA):c.1902C>G (p.Tyr634Ter)
|
|
|
|
NM_000282.4(PCCA):c.1903A>G (p.Lys635Glu)
|
|
|
|
NM_000282.4(PCCA):c.1905G>A (p.Lys635=)
|
|
|
|
NM_000282.4(PCCA):c.1911T>C (p.Asn637=)
|
|
|
|
NM_000282.4(PCCA):c.1915T>C (p.Leu639=)
|
rs2152998157
|
|
|
NM_000282.4(PCCA):c.1919C>G (p.Thr640Ser)
|
rs1594099709
|
|
|
NM_000282.4(PCCA):c.1920C>T (p.Thr640=)
|
rs2152998162
|
|
|
NM_000282.4(PCCA):c.1926T>G (p.Leu642=)
|
|
|
|
NM_000282.4(PCCA):c.1936T>C (p.Leu646=)
|
|
|
|
NM_000282.4(PCCA):c.1941C>T (p.Asn647=)
|
|
|
|
NM_000282.4(PCCA):c.1943A>C (p.Lys648Thr)
|
|
|
|
NM_000282.4(PCCA):c.1943A>G (p.Lys648Arg)
|
|
|
|
NM_000282.4(PCCA):c.1947T>C (p.Phe649=)
|
|
|
|
NM_000282.4(PCCA):c.1951C>T (p.Leu651=)
|
rs1449490636
|
|
|
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.1953G>T (p.Leu651=)
|
rs765771203
|
|
|
NM_000282.4(PCCA):c.1962G>A (p.Val654=)
|
rs2086766593
|
|
|
NM_000282.4(PCCA):c.1962G>T (p.Val654=)
|
rs2086766593
|
|
|
NM_000282.4(PCCA):c.1969G>A (p.Asp657Asn)
|
|
|
|
NM_000282.4(PCCA):c.1971C>T (p.Asp657=)
|
|
|
|
NM_000282.4(PCCA):c.1977_1978dup (p.Ser660fs)
|
|
|
|
NM_000282.4(PCCA):c.1978A>T (p.Ser660Cys)
|
|
|
|
NM_000282.4(PCCA):c.1980T>C (p.Ser660=)
|
rs751989323
|
|
|
NM_000282.4(PCCA):c.1981G>A (p.Val661Ile)
|
|
|
|
NM_000282.4(PCCA):c.1985T>G (p.Leu662Arg)
|
|
|
|
NM_000282.4(PCCA):c.1986G>A (p.Leu662=)
|
|
|
|
NM_000282.4(PCCA):c.1992C>T (p.Ser664=)
|
|
|
|
NM_000282.4(PCCA):c.1994C>T (p.Pro665Leu)
|
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
|
NM_000282.4(PCCA):c.1995G>C (p.Pro665=)
|
|
|
|
NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_000282.4(PCCA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000282.4(PCCA):c.2005G>C (p.Val669Leu)
|
|
|
|
NM_000282.4(PCCA):c.2007G>C (p.Val669=)
|
rs2152998254
|
|
|
NM_000282.4(PCCA):c.2013G>A (p.Val671=)
|
|
|
|
NM_000282.4(PCCA):c.2013G>T (p.Val671=)
|
|
|
|
NM_000282.4(PCCA):c.2016C>A (p.Ala672=)
|
rs773033856
|
|
|
NM_000282.4(PCCA):c.2016C>G (p.Ala672=)
|
|
|
|
NM_000282.4(PCCA):c.2017G>A (p.Val673Ile)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu)
|
rs142646074
|
|
|
NM_000282.4(PCCA):c.201T>C (p.Leu67=)
|
|
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
|
NM_000282.4(PCCA):c.2028G>T (p.Lys676Asn)
|
|
|
|
NM_000282.4(PCCA):c.2031T>C (p.Pro677=)
|
rs2152998273
|
|
|
NM_000282.4(PCCA):c.2040+12G>C
|
|
|
|
NM_000282.4(PCCA):c.2040+12G>T
|
|
|
|
NM_000282.4(PCCA):c.2040+15T>C
|
|
|
|
NM_000282.4(PCCA):c.2040+16G>C
|
rs2152998313
|
|
|
NM_000282.4(PCCA):c.2040+17TC[4]
|
rs1312258807
|
|
|
NM_000282.4(PCCA):c.2040+18C>G
|
|
|
|
NM_000282.4(PCCA):c.2040+20C>G
|
|
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
|
NM_000282.4(PCCA):c.2040+7G>A
|
|
|
|
NM_000282.4(PCCA):c.2040+8C>T
|
|
|
|
NM_000282.4(PCCA):c.2040+9TG[3]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.2040+9TG[5]
|
rs751014655
|
|
|
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)
|
rs369982920
|
|
|
NM_000282.4(PCCA):c.2041-10del
|
|
|
|
NM_000282.4(PCCA):c.2041-16C>T
|
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
|
NM_000282.4(PCCA):c.2041-8T>C
|
rs2153008293
|
|
|
NM_000282.4(PCCA):c.2043A>G (p.Val681=)
|
rs745390236
|
|
|
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)
|
rs774949844
|
|
|
NM_000282.4(PCCA):c.207T>C (p.Ala69=)
|
rs2152278538
|
|
|
NM_000282.4(PCCA):c.2094T>C (p.Ser698=)
|
rs2153008347
|
|
|
NM_000282.4(PCCA):c.2098_2104del (p.Thr700fs)
|
|
|
|
NM_000282.4(PCCA):c.209A>G (p.Asn70Ser)
|
|
|
|
NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)
|
|
|
|
NM_000282.4(PCCA):c.2100A>G (p.Thr700=)
|
rs141926030
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
|
NM_000282.4(PCCA):c.2108_2111del (p.Lys703fs)
|
|
|
|
NM_000282.4(PCCA):c.2109A>G (p.Lys703=)
|
|
|
|
NM_000282.4(PCCA):c.210T>C (p.Asn70=)
|
|
|
|
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
|
rs2087968295
|
|
|
NM_000282.4(PCCA):c.2115C>T (p.Gly705=)
|
|
|
|
NM_000282.4(PCCA):c.2117C>T (p.Thr706Met)
|
|
|
|
NM_000282.4(PCCA):c.2118+12_2118+19dup
|
|
|
|
NM_000282.4(PCCA):c.2118+18C>T
|
|
|
|
NM_000282.4(PCCA):c.2118+3G>C
|
|
|
|
NM_000282.4(PCCA):c.2118+7C>T
|
|
|
|
NM_000282.4(PCCA):c.2118G>A (p.Thr706=)
|
rs758468297
|
|
|
NM_000282.4(PCCA):c.2119-17A>G
|
|
|
|
NM_000282.4(PCCA):c.2119-19G>A
|
rs1162118685
|
|
|
NM_000282.4(PCCA):c.2119-4C>T
|
|
|
|
NM_000282.4(PCCA):c.2124A>G (p.Lys708=)
|
rs2153010943
|
|
|
NM_000282.4(PCCA):c.2125T>C (p.Ser709Pro)
|
|
|
|
NM_000282.4(PCCA):c.2129_2130del (p.Val710fs)
|
rs1317003529
|
|
|
NM_000282.4(PCCA):c.2130G>A (p.Val710=)
|
|
|
|
NM_000282.4(PCCA):c.2133C>T (p.His711=)
|
|
|
|
NM_000282.4(PCCA):c.2134T>C (p.Cys712Arg)
|
rs2088292660
|
|
|
NM_000282.4(PCCA):c.2135G>A (p.Cys712Tyr)
|
|
|
|
NM_000282.4(PCCA):c.2155G>A (p.Gly719Arg)
|
rs141286340
|
|
|
NM_000282.4(PCCA):c.2161G>T (p.Gly721Trp)
|
|
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
|
NM_000282.4(PCCA):c.2163G>C (p.Gly721=)
|
|
|
|
NM_000282.4(PCCA):c.2165A>T (p.Asp722Val)
|
rs1283571787
|
|
|
NM_000282.4(PCCA):c.2167C>T (p.Leu723=)
|
rs748808267
|
|
|
NM_000282.4(PCCA):c.217G>T (p.Glu73Ter)
|
rs2152278559
|
|
|
NM_000282.4(PCCA):c.2181G>A (p.Leu727=)
|
|
|
|
NM_000282.4(PCCA):c.225A>C (p.Ala75=)
|
rs1243423868
|
|
|
NM_000282.4(PCCA):c.225A>G (p.Ala75=)
|
|
|
|
NM_000282.4(PCCA):c.231+10A>G
|
|
|
|
NM_000282.4(PCCA):c.231+18C>A
|
|
|
|
NM_000282.4(PCCA):c.231+19T>G
|
|
|
|
NM_000282.4(PCCA):c.231+47_231+50del
|
rs147037340
|
|
|
NM_000282.4(PCCA):c.231+9_231+13del
|
rs759203419
|
|
|
NM_000282.4(PCCA):c.232-13T>C
|
|
|
|
NM_000282.4(PCCA):c.232-17A>C
|
|
|
|
NM_000282.4(PCCA):c.232-18T>A
|
|
|
|
NM_000282.4(PCCA):c.232-18T>C
|
|
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
|
NM_000282.4(PCCA):c.232-6A>T
|
rs527249599
|
|
|
NM_000282.4(PCCA):c.234del (p.Ile79fs)
|
|
|
|
NM_000282.4(PCCA):c.243T>A (p.Thr81=)
|
|
|
|
NM_000282.4(PCCA):c.243T>C (p.Thr81=)
|
rs2152278998
|
|
|
NM_000282.4(PCCA):c.24A>T (p.Thr8=)
|
rs117397004
|
|
|
NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)
|
rs999936193
|
|
|
NM_000282.4(PCCA):c.252G>T (p.Lys84Asn)
|
|
|
|
NM_000282.4(PCCA):c.257G>A (p.Gly86Asp)
|
|
|
|
NM_000282.4(PCCA):c.264G>C (p.Lys88Asn)
|
rs2152279056
|
|
|
NM_000282.4(PCCA):c.267A>G (p.Thr89=)
|
rs2152279061
|
|
|
NM_000282.4(PCCA):c.270dup (p.Ala91fs)
|
|
|
|
NM_000282.4(PCCA):c.273C>T (p.Ala91=)
|
rs2152279075
|
|
|
NM_000282.4(PCCA):c.279C>T (p.His93=)
|
rs776253297
|
|
|
NM_000282.4(PCCA):c.27A>G (p.Ala9=)
|
|
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
|
NM_000282.4(PCCA):c.286G>A (p.Val96Ile)
|
|
|
|
NM_000282.4(PCCA):c.287T>C (p.Val96Ala)
|
rs2048368792
|
|
|
NM_000282.4(PCCA):c.289G>C (p.Asp97His)
|
|
|
|
NM_000282.4(PCCA):c.290A>G (p.Asp97Gly)
|
|
|
|
NM_000282.4(PCCA):c.293C>T (p.Ala98Val)
|
rs2152279131
|
|
|
NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)
|
rs1251572354
|
|
|
NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)
|
rs1251572354
|
|
|
NM_000282.4(PCCA):c.300+15G>A
|
|
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|
NM_000282.4(PCCA):c.300+18T>C
|
|
|
|
NM_000282.4(PCCA):c.300+1G>A
|
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|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
|
NM_000282.4(PCCA):c.300+2dup
|
rs2048370100
|
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|
NM_000282.4(PCCA):c.300+7A>G
|
rs1241971231
|
|
|
NM_000282.4(PCCA):c.300+8T>G
|
|
|
|
NM_000282.4(PCCA):c.300+9A>G
|
rs2152279171
|
|
|
NM_000282.4(PCCA):c.301-10G>A
|
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|
|
NM_000282.4(PCCA):c.301-11T>C
|
|
|
|
NM_000282.4(PCCA):c.301-18A>G
|
|
|
|
NM_000282.4(PCCA):c.301-5C>T
|
rs2152382806
|
|
|
NM_000282.4(PCCA):c.305A>C (p.His102Pro)
|
|
|
|
NM_000282.4(PCCA):c.305del (p.His102fs)
|
rs1594413545
|
|
|
NM_000282.4(PCCA):c.306T>C (p.His102=)
|
rs1388078702
|
|
|
NM_000282.4(PCCA):c.30G>A (p.Pro10=)
|
|
|
|
NM_000282.4(PCCA):c.30G>C (p.Pro10=)
|
|
|
|
NM_000282.4(PCCA):c.312A>G (p.Lys104=)
|
|
|
|
NM_000282.4(PCCA):c.315G>A (p.Met105Ile)
|
|
|
|
NM_000282.4(PCCA):c.31C>T (p.Leu11=)
|
|
|
|
NM_000282.4(PCCA):c.322G>T (p.Glu108Ter)
|
|
|
|
NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)
|
|
|
|
NM_000282.4(PCCA):c.331T>A (p.Cys111Ser)
|
|
|
|
NM_000282.4(PCCA):c.334G>A (p.Val112Ile)
|
|
|
|
NM_000282.4(PCCA):c.33G>A (p.Leu11=)
|
rs922002208
|
|
|
NM_000282.4(PCCA):c.340C>A (p.Pro114Thr)
|
|
|
|
NM_000282.4(PCCA):c.342A>G (p.Pro114=)
|
|
|
|
NM_000282.4(PCCA):c.366C>T (p.Leu122=)
|
rs1228885494
|
|
|
NM_000282.4(PCCA):c.375T>C (p.Asp125=)
|
|
|
|
NM_000282.4(PCCA):c.378C>T (p.Ala126=)
|
rs2152382977
|
|
|
NM_000282.4(PCCA):c.380T>G (p.Ile127Ser)
|
|
|
|
NM_000282.4(PCCA):c.383T>C (p.Met128Thr)
|
|
|
|
NM_000282.4(PCCA):c.391A>G (p.Ile131Val)
|
|
|
|
NM_000282.4(PCCA):c.391A>T (p.Ile131Phe)
|
|
|
|
NM_000282.4(PCCA):c.396G>A (p.Lys132=)
|
rs2152383018
|
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
|
NM_000282.4(PCCA):c.402C>T (p.Thr134=)
|
|
|
|
NM_000282.4(PCCA):c.409C>A (p.Gln137Lys)
|
|
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
|
NM_000282.4(PCCA):c.414+11A>G
|
|
|
|
NM_000282.4(PCCA):c.414+15A>C
|
|
|
|
NM_000282.4(PCCA):c.414+15A>G
|
rs1016791209
|
|
|
NM_000282.4(PCCA):c.414+19A>T
|
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
|
NM_000282.4(PCCA):c.415-10C>A
|
|
|
|
NM_000282.4(PCCA):c.415-13T>C
|
|
|
|
NM_000282.4(PCCA):c.415-1G>A
|
|
|
|
NM_000282.4(PCCA):c.415-2A>G
|
rs746286209
|
|
|
NM_000282.4(PCCA):c.415-4T>C
|
rs2152387053
|
|
|
NM_000282.4(PCCA):c.415G>A (p.Val139Ile)
|
rs770129876
|
|
|
NM_000282.4(PCCA):c.415G>T (p.Val139Leu)
|
|
|
|
NM_000282.4(PCCA):c.418C>T (p.His140Tyr)
|
|
|
|
NM_000282.4(PCCA):c.419A>G (p.His140Arg)
|
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
|
NM_000282.4(PCCA):c.429T>C (p.Tyr143=)
|
|
|
|
NM_000282.4(PCCA):c.42C>G (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.42C>T (p.Ala14=)
|
rs200714802
|
|
|
NM_000282.4(PCCA):c.441A>G (p.Ser147=)
|
|
|
|
NM_000282.4(PCCA):c.449A>G (p.Lys150Arg)
|
|
|
|
NM_000282.4(PCCA):c.449_450del (p.Lys150fs)
|
|
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
|
NM_000282.4(PCCA):c.458C>A (p.Ala153Asp)
|
|
|
|
NM_000282.4(PCCA):c.459C>T (p.Ala153=)
|
rs1358991180
|
|
|
NM_000282.4(PCCA):c.45A>G (p.Gly15=)
|
|
|
|
NM_000282.4(PCCA):c.460A>G (p.Arg154Gly)
|
|
|
|
NM_000282.4(PCCA):c.468+10T>C
|
|
|
|
NM_000282.4(PCCA):c.468+10T>G
|
rs2152387181
|
|
|
NM_000282.4(PCCA):c.468+15A>G
|
|
|
|
NM_000282.4(PCCA):c.468+18C>G
|
|
|
|
NM_000282.4(PCCA):c.468+18C>T
|
|
|
|
NM_000282.4(PCCA):c.468+19A>G
|
|
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
|
NM_000282.4(PCCA):c.468+8G>A
|
rs2152387172
|
|
|
NM_000282.4(PCCA):c.468+8_468+10dup
|
|
|
|
NM_000282.4(PCCA):c.469-4A>G
|
|
|
|
NM_000282.4(PCCA):c.469-5C>T
|
|
|
|
NM_000282.4(PCCA):c.469-5dup
|
|
|
|
NM_000282.4(PCCA):c.469-8C>A
|
|
|
|
NM_000282.4(PCCA):c.469-9del
|
|
|
|
NM_000282.4(PCCA):c.474A>G (p.Ala158=)
|
|
|
|
NM_000282.4(PCCA):c.479A>G (p.Asp160Gly)
|
|
|
|
NM_000282.4(PCCA):c.483C>G (p.Val161=)
|
|
|
|
NM_000282.4(PCCA):c.484G>T (p.Val162Phe)
|
|
|
|
NM_000282.4(PCCA):c.488T>A (p.Phe163Tyr)
|
rs1177671858
|
|
|
NM_000282.4(PCCA):c.48G>C (p.Arg16=)
|
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
|
NM_000282.4(PCCA):c.497C>T (p.Pro166Leu)
|
|
|
|
NM_000282.4(PCCA):c.497del (p.Pro166fs)
|
|
|
|
NM_000282.4(PCCA):c.498T>C (p.Pro166=)
|
|
|
|
NM_000282.4(PCCA):c.49_53del (p.Arg17fs)
|
|
|
|
NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)
|
|
|
|
NM_000282.4(PCCA):c.505C>T (p.His169Tyr)
|
|
|
|
NM_000282.4(PCCA):c.505_506del (p.His169fs)
|
rs2152478652
|
|
|
NM_000282.4(PCCA):c.506dup (p.His169fs)
|
rs2152478688
|
|
|
NM_000282.4(PCCA):c.518C>G (p.Ala173Gly)
|
|
|
|
NM_000282.4(PCCA):c.519C>A (p.Ala173=)
|
|
|
|
NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)
|
rs779286461
|
|
|
NM_000282.4(PCCA):c.531G>C (p.Lys177Asn)
|
rs2152478767
|
|
|
NM_000282.4(PCCA):c.556A>T (p.Lys186Ter)
|
rs2059069232
|
|
|
NM_000282.4(PCCA):c.564G>A (p.Glu188=)
|
rs1594744855
|
|
|
NM_000282.4(PCCA):c.567T>C (p.Val189=)
|
rs773301690
|
|
|
NM_000282.4(PCCA):c.576C>A (p.Ile192=)
|
|
|
|
NM_000282.4(PCCA):c.578C>T (p.Pro193Leu)
|
rs1225108460
|
|
|
NM_000282.4(PCCA):c.579T>G (p.Pro193=)
|
rs2152478869
|
|
|
NM_000282.4(PCCA):c.587A>G (p.Asp196Gly)
|
|
|
|
NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)
|
|
|
|
NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)
|
rs1302125451
|
|
|
NM_000282.4(PCCA):c.592G>A (p.Val198Ile)
|
|
|
|
NM_000282.4(PCCA):c.597C>G (p.Val199=)
|
|
|
|
NM_000282.4(PCCA):c.600+15T>C
|
|
|
|
NM_000282.4(PCCA):c.600+16A>C
|
|
|
|
NM_000282.4(PCCA):c.600+17A>C
|
|
|
|
NM_000282.4(PCCA):c.600+1G>A
|
rs879253802
|
|
|
NM_000282.4(PCCA):c.601-10G>A
|
rs903647084
|
|
|
NM_000282.4(PCCA):c.601-12C>T
|
|
|
|
NM_000282.4(PCCA):c.601-18C>T
|
|
|
|
NM_000282.4(PCCA):c.601-4A>G
|
|
|
|
NM_000282.4(PCCA):c.601-6T>C
|
|
|
|
NM_000282.4(PCCA):c.601-9C>T
|
rs775469263
|
|
|
NM_000282.4(PCCA):c.602A>T (p.Asp201Val)
|
|
|
|
NM_000282.4(PCCA):c.603T>C (p.Asp201=)
|
rs773868428
|
|
|
NM_000282.4(PCCA):c.608AAG[1] (p.Glu204del)
|
rs750672608
|
|
|
NM_000282.4(PCCA):c.611A>C (p.Glu204Ala)
|
|
|
|
NM_000282.4(PCCA):c.611A>G (p.Glu204Gly)
|
|
|
|
NM_000282.4(PCCA):c.612A>G (p.Glu204=)
|
rs1594860188
|
|
|
NM_000282.4(PCCA):c.615dup (p.Val206fs)
|
rs1566767338
|
|
|
NM_000282.4(PCCA):c.630G>A (p.Arg210=)
|
rs2152522233
|
|
|
NM_000282.4(PCCA):c.632A>G (p.Glu211Gly)
|
|
|
|
NM_000282.4(PCCA):c.633A>T (p.Glu211Asp)
|
|
|
|
NM_000282.4(PCCA):c.637+18C>T
|
rs758676556
|
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
|
NM_000282.4(PCCA):c.637+3A>G
|
|
|
|
NM_000282.4(PCCA):c.637+9T>G
|
rs2152522254
|
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
|
NM_000282.4(PCCA):c.638-5G>T
|
rs764316702
|
|
|
NM_000282.4(PCCA):c.638-7C>T
|
rs2152558252
|
|
|
NM_000282.4(PCCA):c.63G>A (p.Pro21=)
|
rs2152189800
|
|
|
NM_000282.4(PCCA):c.645T>A (p.Pro215=)
|
rs751840442
|
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
|
NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)
|
|
|
|
NM_000282.4(PCCA):c.650T>C (p.Met217Thr)
|
rs750593565
|
|
|
NM_000282.4(PCCA):c.651G>C (p.Met217Ile)
|
rs1018685292
|
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
|
NM_000282.4(PCCA):c.66G>A (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.66G>C (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.66G>T (p.Pro22=)
|
|
|
|
NM_000282.4(PCCA):c.672dup (p.Gly225fs)
|
rs1164986524
|
|
|
NM_000282.4(PCCA):c.674G>A (p.Gly225Asp)
|
rs2062161647
|
|
|
NM_000282.4(PCCA):c.685A>G (p.Met229Val)
|
|
|
|
NM_000282.4(PCCA):c.696T>G (p.Ala232=)
|
rs2152558384
|
|
|
NM_000282.4(PCCA):c.69G>A (p.Gln23=)
|
rs1593997093
|
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
|
NM_000282.4(PCCA):c.6G>A (p.Ala2=)
|
rs958365590
|
|
|
NM_000282.4(PCCA):c.6G>T (p.Ala2=)
|
|
|
|
NM_000282.4(PCCA):c.701A>G (p.Asp234Gly)
|
|
|
|
NM_000282.4(PCCA):c.702T>A (p.Asp234Glu)
|
|
|
|
NM_000282.4(PCCA):c.716+16A>G
|
|
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
|
NM_000282.4(PCCA):c.716+20A>G
|
|
|
|
NM_000282.4(PCCA):c.717-15T>G
|
|
|
|
NM_000282.4(PCCA):c.717-19T>G
|
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
|
NM_000282.4(PCCA):c.717-5dup
|
rs2062610539
|
|
|
NM_000282.4(PCCA):c.717-8T>G
|
rs1367148068
|
|
|
NM_000282.4(PCCA):c.719A>C (p.Asp240Ala)
|
|
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
|
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
|
|
|
|
NM_000282.4(PCCA):c.72G>A (p.Gln24=)
|
rs2152189926
|
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
|
NM_000282.4(PCCA):c.734C>G (p.Ser245Ter)
|
rs1594992191
|
|
|
NM_000282.4(PCCA):c.735A>G (p.Ser245=)
|
|
|
|
NM_000282.4(PCCA):c.737dup (p.Gln247fs)
|
|
|
|
NM_000282.4(PCCA):c.73C>T (p.Leu25=)
|
|
|
|
NM_000282.4(PCCA):c.740A>C (p.Gln247Pro)
|
|
|
|
NM_000282.4(PCCA):c.742G>A (p.Glu248Lys)
|
rs1064793224
|
|
|
NM_000282.4(PCCA):c.747T>C (p.Ala249=)
|
rs1594992384
|
|
|
NM_000282.4(PCCA):c.755G>C (p.Ser252Thr)
|
|
|
|
NM_000282.4(PCCA):c.756T>C (p.Ser252=)
|
rs2152564931
|
|
|
NM_000282.4(PCCA):c.75G>T (p.Leu25=)
|
rs1295789610
|
|
|
NM_000282.4(PCCA):c.762C>A (p.Gly254=)
|
rs758211858
|
|
|
NM_000282.4(PCCA):c.763G>A (p.Asp255Asn)
|
|
|
|
NM_000282.4(PCCA):c.771A>G (p.Arg257=)
|
rs1483857199
|
|
|
NM_000282.4(PCCA):c.774A>C (p.Leu258=)
|
|
|
|
NM_000282.4(PCCA):c.774A>G (p.Leu258=)
|
|
|
|
NM_000282.4(PCCA):c.775C>T (p.Leu259=)
|
|
|
|
NM_000282.4(PCCA):c.77T>C (p.Met26Thr)
|
|
|
|
NM_000282.4(PCCA):c.780A>T (p.Ile260=)
|
rs1451573276
|
|
|
NM_000282.4(PCCA):c.783A>G (p.Glu261=)
|
rs917366865
|
|
|
NM_000282.4(PCCA):c.789del (p.Phe263fs)
|
|
|
|
NM_000282.4(PCCA):c.792T>G (p.Ile264Met)
|
rs1484956776
|
|
|
NM_000282.4(PCCA):c.797A>C (p.Asn266Thr)
|
rs2152564988
|
|
|
NM_000282.4(PCCA):c.79C>T (p.Leu27=)
|
rs2152189967
|
|
|
NM_000282.4(PCCA):c.801T>C (p.Pro267=)
|
rs2152564990
|
|
|
NM_000282.4(PCCA):c.807T>C (p.His269=)
|
rs2152565006
|
|
|
NM_000282.4(PCCA):c.819+10T>C
|
rs1280822128
|
|
|
NM_000282.4(PCCA):c.819+13_819+35del
|
|
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|
NM_000282.4(PCCA):c.819+16A>T
|
rs377356398
|
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|
NM_000282.4(PCCA):c.819+19C>T
|
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|
NM_000282.4(PCCA):c.819+1G>A
|
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|
|
NM_000282.4(PCCA):c.819+7A>G
|
|
|
|
NM_000282.4(PCCA):c.819+8C>T
|
|
|
|
NM_000282.4(PCCA):c.81G>A (p.Leu27=)
|
rs2152189973
|
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|
NM_000282.4(PCCA):c.820-18A>G
|
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|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
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|
NM_000282.4(PCCA):c.820-8T>C
|
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|
|
NM_000282.4(PCCA):c.820-9C>T
|
rs1371297395
|
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|
NM_000282.4(PCCA):c.820G>A (p.Val274Ile)
|
rs767299022
|
|
|
NM_000282.4(PCCA):c.832A>G (p.Lys278Glu)
|
rs1595032543
|
|
|
NM_000282.4(PCCA):c.841A>C (p.Asn281His)
|
rs2152572294
|
|
|
NM_000282.4(PCCA):c.847T>C (p.Leu283=)
|
rs911990330
|
|
|
NM_000282.4(PCCA):c.858T>A (p.Asn286Lys)
|
rs778427348
|
|
|
NM_000282.4(PCCA):c.85del (p.Ala29fs)
|
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
|
NM_000282.4(PCCA):c.867G>A (p.Glu289=)
|
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|
|
NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)
|
rs1595033018
|
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NM_000282.4(PCCA):c.873A>C (p.Ser291=)
|
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|
|
NM_000282.4(PCCA):c.877C>G (p.Gln293Glu)
|
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|
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg)
|
rs879253805
|
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|
NM_000282.4(PCCA):c.87G>C (p.Ala29=)
|
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|
|
NM_000282.4(PCCA):c.880A>C (p.Arg294=)
|
rs2063109467
|
|
|
NM_000282.4(PCCA):c.891_892del (p.Lys298fs)
|
|
|
|
NM_000282.4(PCCA):c.897G>C (p.Val299=)
|
rs770113371
|
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|
NM_000282.4(PCCA):c.900G>A (p.Val300=)
|
rs2152572391
|
|
|
NM_000282.4(PCCA):c.904G>C (p.Glu302Gln)
|
rs775686458
|
|
|
NM_000282.4(PCCA):c.906A>G (p.Glu302=)
|
|
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|
NM_000282.4(PCCA):c.90G>C (p.Ala30=)
|
rs776449255
|
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NM_000282.4(PCCA):c.90G>T (p.Ala30=)
|
rs776449255
|
|
|
NM_000282.4(PCCA):c.912A>G (p.Pro304=)
|
rs2063111759
|
|
|
NM_000282.4(PCCA):c.914+14G>A
|
|
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|
NM_000282.4(PCCA):c.914+14G>C
|
rs2152572441
|
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|
NM_000282.4(PCCA):c.914+16A>T
|
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|
NM_000282.4(PCCA):c.914+17A>G
|
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|
NM_000282.4(PCCA):c.914+17A>T
|
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|
|
NM_000282.4(PCCA):c.914+18_914+19inv
|
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|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
|
NM_000282.4(PCCA):c.914+8T>A
|
rs543352333
|
|
|
NM_000282.4(PCCA):c.914+9C>T
|
|
|
|
NM_000282.4(PCCA):c.915-11dup
|
rs1311154145
|
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|
NM_000282.4(PCCA):c.915-13T>G
|
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|
NM_000282.4(PCCA):c.915-15T>G
|
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NM_000282.4(PCCA):c.915-18A>G
|
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|
|
NM_000282.4(PCCA):c.915-18del
|
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
|
NM_000282.4(PCCA):c.915-4G>A
|
|
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|
NM_000282.4(PCCA):c.915-5T>C
|
rs2152587983
|
|
|
NM_000282.4(PCCA):c.915-6A>G
|
rs2063416816
|
|
|
NM_000282.4(PCCA):c.915-6A>T
|
rs2063416816
|
|
|
NM_000282.4(PCCA):c.915-8A>G
|
rs2063416324
|
|
|
NM_000282.4(PCCA):c.915C>A (p.Ser305Arg)
|
|
|
|
NM_000282.4(PCCA):c.915C>G (p.Ser305Arg)
|
rs768758704
|
|
|
NM_000282.4(PCCA):c.915C>T (p.Ser305=)
|
|
|
|
NM_000282.4(PCCA):c.917T>A (p.Ile306Asn)
|
|
|
|
NM_000282.4(PCCA):c.91C>T (p.Leu31=)
|
rs2152190063
|
|
|
NM_000282.4(PCCA):c.923dup (p.Leu308fs)
|
rs573607437
|
|
|
NM_000282.4(PCCA):c.926A>T (p.Asp309Val)
|
|
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.929C>T (p.Ala310Val)
|
rs146927771
|
|
|
NM_000282.4(PCCA):c.930G>A (p.Ala310=)
|
|
|
|
NM_000282.4(PCCA):c.930G>C (p.Ala310=)
|
rs377248400
|
|
|
NM_000282.4(PCCA):c.933G>C (p.Glu311Asp)
|
rs369790356
|
|
|
NM_000282.4(PCCA):c.934A>T (p.Thr312Ser)
|
|
|
|
NM_000282.4(PCCA):c.937C>G (p.Arg313Gly)
|
rs138149179
|
|
|
NM_000282.4(PCCA):c.938G>A (p.Arg313Gln)
|
|
|
|
NM_000282.4(PCCA):c.939A>G (p.Arg313=)
|
|
|
|
NM_000282.4(PCCA):c.93G>A (p.Leu31=)
|
|
|
|
NM_000282.4(PCCA):c.940A>C (p.Arg314=)
|
rs2152588262
|
|
|
NM_000282.4(PCCA):c.942A>G (p.Arg314=)
|
rs2152588280
|
|
|
NM_000282.4(PCCA):c.944C>T (p.Ala315Val)
|
rs1302507711
|
|
|
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)
|
rs137861347
|
|
|
NM_000282.4(PCCA):c.947T>C (p.Met316Thr)
|
|
|
|
NM_000282.4(PCCA):c.947T>G (p.Met316Arg)
|
rs137861347
|
|
|
NM_000282.4(PCCA):c.94C>A (p.Arg32=)
|
rs2152190089
|
|
|
NM_000282.4(PCCA):c.954A>G (p.Glu318=)
|
rs2152588516
|
|
|
NM_000282.4(PCCA):c.957A>G (p.Gln319=)
|
rs756496977
|
|
|
NM_000282.4(PCCA):c.958G>A (p.Ala320Thr)
|
rs1434912184
|
|
|
NM_000282.4(PCCA):c.960T>C (p.Ala320=)
|
|
|
|
NM_000282.4(PCCA):c.962T>C (p.Val321Ala)
|
|
|
|
NM_000282.4(PCCA):c.966T>G (p.Ala322=)
|
rs2152588623
|
|
|
NM_000282.4(PCCA):c.967C>T (p.Leu323Phe)
|
rs1394612377
|
|
|
NM_000282.4(PCCA):c.972C>G (p.Ala324=)
|
rs2063425317
|
|
|
NM_000282.4(PCCA):c.972C>T (p.Ala324=)
|
rs2063425317
|
|
|
NM_000282.4(PCCA):c.978A>G (p.Ala326=)
|
|
|
|
NM_000282.4(PCCA):c.978del (p.Ala326_Val327insTer)
|
|
|
|
NM_000282.4(PCCA):c.981A>G (p.Val327=)
|
rs2063425788
|
|
|
NM_000282.4(PCCA):c.996T>C (p.Ala332=)
|
rs2152588809
|
|
|
NM_000282.4(PCCA):c.996T>G (p.Ala332=)
|
|
|
|
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
|
rs2063427075
|
|
|
NM_000282.4(PCCA):c.99C>G (p.Thr33=)
|
|
|
|
NM_000282.4(PCCA):c.99C>T (p.Thr33=)
|
|
|
|
NM_000282.4(PCCA):c.9G>A (p.Gly3=)
|
|
|
|
NM_000282.4(PCCA):c.9G>C (p.Gly3=)
|
rs547209141
|
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
|
NM_000317.3(PTS):c.105A>C (p.Glu35Asp)
|
|
|
|
NM_000317.3(PTS):c.107del (p.Asn36fs)
|
rs1859894340
|
|
|
NM_000317.3(PTS):c.108C>G (p.Asn36Lys)
|
rs1449216377
|
|
|
NM_000317.3(PTS):c.108C>T (p.Asn36=)
|
rs1449216377
|
|
|
NM_000317.3(PTS):c.117G>C (p.Leu39=)
|
rs2135408246
|
|
|
NM_000317.3(PTS):c.118_121del (p.Phe40fs)
|
rs747260038
|
|
|
NM_000317.3(PTS):c.11A>G (p.Glu4Gly)
|
|
|
|
NM_000317.3(PTS):c.120T>C (p.Phe40=)
|
|
|
|
NM_000317.3(PTS):c.123G>A (p.Gly41=)
|
|
|
|
NM_000317.3(PTS):c.130A>G (p.Asn44Asp)
|
|
|
|
NM_000317.3(PTS):c.136C>A (p.Pro46Thr)
|
rs2135408262
|
|
|
NM_000317.3(PTS):c.141T>C (p.Asn47=)
|
|
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
|
NM_000317.3(PTS):c.147T>C (p.His49=)
|
|
|
|
NM_000317.3(PTS):c.148G>A (p.Gly50Arg)
|
rs922940879
|
|
|
NM_000317.3(PTS):c.149G>A (p.Gly50Glu)
|
rs2135408273
|
|
|
NM_000317.3(PTS):c.158A>C (p.Tyr53Ser)
|
rs2135408283
|
|
|
NM_000317.3(PTS):c.159T>C (p.Tyr53=)
|
rs781197929
|
|
|
NM_000317.3(PTS):c.159T>G (p.Tyr53Ter)
|
rs781197929
|
|
|
NM_000317.3(PTS):c.163+14_163+15inv
|
|
|
|
NM_000317.3(PTS):c.163+17T>C
|
|
|
|
NM_000317.3(PTS):c.163+1G>T
|
rs2135408292
|
|
|
NM_000317.3(PTS):c.164-10C>G
|
|
|
|
NM_000317.3(PTS):c.164-37dup
|
|
|
|
NM_000317.3(PTS):c.164-4A>G
|
|
|
|
NM_000317.3(PTS):c.164-4A>T
|
rs780741396
|
|
|
NM_000317.3(PTS):c.164-716A>T
|
rs1859903893
|
|
|
NM_000317.3(PTS):c.164-7T>A
|
rs1555198232
|
|
|
NM_000317.3(PTS):c.164-7T>C
|
rs1555198232
|
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
|
NM_000317.3(PTS):c.174_175del (p.Val59fs)
|
rs2135408968
|
|
|
NM_000317.3(PTS):c.177A>G (p.Val59=)
|
|
|
|
NM_000317.3(PTS):c.180T>C (p.His60=)
|
rs1859913195
|
|
|
NM_000317.3(PTS):c.186+14A>G
|
|
|
|
NM_000317.3(PTS):c.186+16A>G
|
|
|
|
NM_000317.3(PTS):c.186+17T>G
|
|
|
|
NM_000317.3(PTS):c.186+18T>A
|
|
|
|
NM_000317.3(PTS):c.186+18T>C
|
|
|
|
NM_000317.3(PTS):c.186+19T>C
|
|
|
|
NM_000317.3(PTS):c.186+19del
|
|
|
|
NM_000317.3(PTS):c.186+1G>A
|
|
|
|
NM_000317.3(PTS):c.186+20G>C
|
|
|
|
NM_000317.3(PTS):c.186+7G>A
|
|
|
|
NM_000317.3(PTS):c.186+7G>T
|
rs2135408985
|
|
|
NM_000317.3(PTS):c.186G>A (p.Glu62=)
|
rs189051075
|
|
|
NM_000317.3(PTS):c.187-10T>A
|
|
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
|
NM_000317.3(PTS):c.187-8T>C
|
|
|
|
NM_000317.3(PTS):c.189dup (p.Asp64Ter)
|
|
|
|
NM_000317.3(PTS):c.193C>T (p.Pro65Ser)
|
|
|
|
NM_000317.3(PTS):c.196G>A (p.Ala66Thr)
|
|
|
|
NM_000317.3(PTS):c.1A>G (p.Met1Val)
|
rs2135407146
|
|
|
NM_000317.3(PTS):c.200C>A (p.Thr67Lys)
|
rs370340361
|
|
|
NM_000317.3(PTS):c.209T>A (p.Val70Asp)
|
rs1592880489
|
|
|
NM_000317.3(PTS):c.21C>T (p.Gly7=)
|
rs2135407159
|
|
|
NM_000317.3(PTS):c.222T>A (p.Ala74=)
|
|
|
|
NM_000317.3(PTS):c.228C>A (p.Leu76=)
|
rs772713545
|
|
|
NM_000317.3(PTS):c.231A>G (p.Lys77=)
|
|
|
|
NM_000317.3(PTS):c.236_239del (p.Tyr79fs)
|
rs1399026048
|
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
|
NM_000317.3(PTS):c.243+10T>C
|
rs1859918965
|
|
|
NM_000317.3(PTS):c.243+10T>G
|
|
|
|
NM_000317.3(PTS):c.243+11G>A
|
|
|
|
NM_000317.3(PTS):c.243+13T>C
|
|
|
|
NM_000317.3(PTS):c.243+15G>T
|
|
|
|
NM_000317.3(PTS):c.243+1G>T
|
|
|
|
NM_000317.3(PTS):c.243+7G>A
|
|
|
|
NM_000317.3(PTS):c.243+9A>G
|
rs200446631
|
|
|
NM_000317.3(PTS):c.243G>A (p.Glu81=)
|
rs2135409211
|
|
|
NM_000317.3(PTS):c.244-17C>T
|
|
|
|
NM_000317.3(PTS):c.244-4C>G
|
|
|
|
NM_000317.3(PTS):c.244-4C>T
|
rs759579787
|
|
|
NM_000317.3(PTS):c.244-8G>A
|
|
|
|
NM_000317.3(PTS):c.244-8G>C
|
|
|
|
NM_000317.3(PTS):c.244-8G>T
|
rs773715386
|
|
|
NM_000317.3(PTS):c.244-9T>C
|
|
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
|
NM_000317.3(PTS):c.249G>A (p.Ala83=)
|
|
|
|
NM_000317.3(PTS):c.24T>C (p.Arg8=)
|
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
|
NM_000317.3(PTS):c.261C>A (p.Pro87=)
|
|
|
|
NM_000317.3(PTS):c.26G>A (p.Arg9His)
|
rs1213277062
|
|
|
NM_000317.3(PTS):c.272A>G (p.Lys91Arg)
|
rs761285716
|
|
|
NM_000317.3(PTS):c.273G>A (p.Lys91=)
|
rs1318726823
|
|
|
NM_000317.3(PTS):c.274A>C (p.Asn92His)
|
rs1859964367
|
|
|
NM_000317.3(PTS):c.277C>T (p.Leu93=)
|
|
|
|
NM_000317.3(PTS):c.281A>G (p.Asp94Gly)
|
rs1057517811
|
|
|
NM_000317.3(PTS):c.291G>A (p.Val97=)
|
rs2135410310
|
|
|
NM_000317.3(PTS):c.292_293insATACTTTG (p.Pro98fs)
|
|
|
|
NM_000317.3(PTS):c.296A>G (p.Tyr99Cys)
|
rs1555198458
|
|
|
NM_000317.3(PTS):c.303A>C (p.Ala101=)
|
|
|
|
NM_000317.3(PTS):c.303A>G (p.Ala101=)
|
|
|
|
NM_000317.3(PTS):c.308T>C (p.Val103Ala)
|
rs1555198459
|
|
|
NM_000317.3(PTS):c.309G>A (p.Val103=)
|
|
|
|
NM_000317.3(PTS):c.312G>C (p.Val104=)
|
rs148185068
|
|
|
NM_000317.3(PTS):c.314+10A>C
|
rs2135410346
|
|
|
NM_000317.3(PTS):c.314+11C>T
|
|
|
|
NM_000317.3(PTS):c.314+14T>C
|
rs377221164
|
|
|
NM_000317.3(PTS):c.314+14T>G
|
|
|
|
NM_000317.3(PTS):c.314+20G>A
|
|
|
|
NM_000317.3(PTS):c.314+2T>C
|
rs2135410340
|
|
|
NM_000317.3(PTS):c.314+7G>C
|
|
|
|
NM_000317.3(PTS):c.314+8G>A
|
rs751944451
|
|
|
NM_000317.3(PTS):c.315-17G>A
|
|
|
|
NM_000317.3(PTS):c.315-17G>T
|
|
|
|
NM_000317.3(PTS):c.315-17del
|
|
|
|
NM_000317.3(PTS):c.315-1G>A
|
|
|
|
NM_000317.3(PTS):c.315-20T>C
|
rs1566817881
|
|
|
NM_000317.3(PTS):c.315-2A>G
|
rs1555198483
|
|
|
NM_000317.3(PTS):c.315-5T>C
|
rs2135410431
|
|
|
NM_000317.3(PTS):c.315-6T>C
|
|
|
|
NM_000317.3(PTS):c.315-8T>C
|
|
|
|
NM_000317.3(PTS):c.315-8del
|
|
|
|
NM_000317.3(PTS):c.315-8dup
|
|
|
|
NM_000317.3(PTS):c.318G>T (p.Thr106=)
|
|
|
|
NM_000317.3(PTS):c.322G>T (p.Glu108Ter)
|
|
|
|
NM_000317.3(PTS):c.327T>C (p.Asn109=)
|
|
|
|
NM_000317.3(PTS):c.331G>A (p.Ala111Thr)
|
rs1367077861
|
|
|
NM_000317.3(PTS):c.333T>C (p.Ala111=)
|
rs1320913050
|
|
|
NM_000317.3(PTS):c.356A>G (p.Gln119Arg)
|
|
|
|
NM_000317.3(PTS):c.364C>A (p.Leu122Ile)
|
|
|
|
NM_000317.3(PTS):c.369T>C (p.Pro123=)
|
|
|
|
NM_000317.3(PTS):c.36A>G (p.Ala12=)
|
rs2135407170
|
|
|
NM_000317.3(PTS):c.370G>C (p.Val124Leu)
|
|
|
|
NM_000317.3(PTS):c.372A>G (p.Val124=)
|
|
|
|
NM_000317.3(PTS):c.379C>T (p.Leu127Phe)
|
rs1859971515
|
|
|
NM_000317.3(PTS):c.384T>A (p.Tyr128Ter)
|
rs1859971691
|
|
|
NM_000317.3(PTS):c.385A>G (p.Lys129Glu)
|
|
|
|
NM_000317.3(PTS):c.390A>G (p.Val130=)
|
rs2135410489
|
|
|
NM_000317.3(PTS):c.393A>G (p.Lys131=)
|
rs2135410494
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
|
NM_000317.3(PTS):c.399C>A (p.Tyr133Ter)
|
rs199603175
|
|
|
NM_000317.3(PTS):c.3G>T (p.Met1Ile)
|
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
|
NM_000317.3(PTS):c.405T>G (p.Thr135=)
|
rs59731976
|
|
|
NM_000317.3(PTS):c.407A>G (p.Asp136Gly)
|
rs1859972447
|
|
|
NM_000317.3(PTS):c.407A>T (p.Asp136Val)
|
rs1859972447
|
|
|
NM_000317.3(PTS):c.420G>A (p.Val140=)
|
|
|
|
NM_000317.3(PTS):c.429A>C (p.Lys143Asn)
|
rs1555198513
|
|
|
NM_000317.3(PTS):c.47G>A (p.Arg16His)
|
|
|
|
NM_000317.3(PTS):c.48C>T (p.Arg16=)
|
|
|
|
NM_000317.3(PTS):c.54C>A (p.Ile18=)
|
rs749133827
|
|
|
NM_000317.3(PTS):c.57C>T (p.Ser19=)
|
rs2135407185
|
|
|
NM_000317.3(PTS):c.63C>T (p.Ser21=)
|
|
|
|
NM_000317.3(PTS):c.73C>G (p.Arg25Gly)
|
rs1167104933
|
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
|
NM_000317.3(PTS):c.74G>A (p.Arg25Gln)
|
rs104894273
|
|
|
NM_000317.3(PTS):c.75A>T (p.Arg25=)
|
|
|
|
NM_000317.3(PTS):c.76T>C (p.Leu26=)
|
|
|
|
NM_000317.3(PTS):c.83+10G>A
|
rs372809628
|
|
|
NM_000317.3(PTS):c.83+10G>T
|
rs372809628
|
|
|
NM_000317.3(PTS):c.83+11C>T
|
|
|
|
NM_000317.3(PTS):c.83+12A>C
|
|
|
|
NM_000317.3(PTS):c.83+12A>G
|
|
|
|
NM_000317.3(PTS):c.83+1G>A
|
rs927103678
|
|
|
NM_000317.3(PTS):c.83+5G>A
|
|
|
|
NM_000317.3(PTS):c.83+5G>T
|
|
|
|
NM_000317.3(PTS):c.83+9T>C
|
|
|
|
NM_000317.3(PTS):c.83+9T>G
|
rs2135407218
|
|
|
NM_000317.3(PTS):c.84-10T>A
|
|
|
|
NM_000317.3(PTS):c.84-18T>C
|
|
|
|
NM_000317.3(PTS):c.84-1G>A
|
|
|
|
NM_000317.3(PTS):c.84-2A>G
|
|
|
|
NM_000317.3(PTS):c.84-4T>G
|
|
|
|
NM_000317.3(PTS):c.84-5G>A
|
rs61900919
|
|
|
NM_000317.3(PTS):c.84-5G>C
|
|
|
|
NM_000317.3(PTS):c.84-5G>T
|
rs61900919
|
|
|
NM_000317.3(PTS):c.84-5del
|
rs750461383
|
|
|
NM_000317.3(PTS):c.84-6G>T
|
rs778736284
|
|
|
NM_000317.3(PTS):c.84-8T>C
|
|
|
|
NM_000317.3(PTS):c.85A>T (p.Lys29Ter)
|
|
|
|
NM_000317.3(PTS):c.9G>A (p.Thr3=)
|
rs1460470110
|
|
|
NM_000320.3(QDPR):c.102C>T (p.Asn34=)
|
rs1357084602
|
|
|
NM_000320.3(QDPR):c.105+10C>G
|
|
|
|
NM_000320.3(QDPR):c.105+11G>C
|
|
|
|
NM_000320.3(QDPR):c.105+13G>A
|
|
|
|
NM_000320.3(QDPR):c.105+13G>T
|
|
|
|
NM_000320.3(QDPR):c.105+14C>T
|
|
|
|
NM_000320.3(QDPR):c.105+15T>C
|
|
|
|
NM_000320.3(QDPR):c.105+16G>C
|
|
|
|
NM_000320.3(QDPR):c.105+20C>G
|
|
|
|
NM_000320.3(QDPR):c.105+2T>A
|
|
|
|
NM_000320.3(QDPR):c.105G>C (p.Trp35Cys)
|
|
|
|
NM_000320.3(QDPR):c.106-12T>C
|
|
|
|
NM_000320.3(QDPR):c.106-19del
|
rs1303595690
|
|
|
NM_000320.3(QDPR):c.106-1G>C
|
rs1428018512
|
|
|
NM_000320.3(QDPR):c.106-20A>C
|
|
|
|
NM_000320.3(QDPR):c.106-6T>C
|
|
|
|
NM_000320.3(QDPR):c.106-8C>T
|
|
|
|
NM_000320.3(QDPR):c.117C>T (p.Ser39=)
|
|
|
|
NM_000320.3(QDPR):c.11C>T (p.Ala4Val)
|
|
|
|
NM_000320.3(QDPR):c.121G>T (p.Asp41Tyr)
|
|
|
|
NM_000320.3(QDPR):c.123T>C (p.Asp41=)
|
|
|
|
NM_000320.3(QDPR):c.125TGG[1] (p.Val43del)
|
|
|
|
NM_000320.3(QDPR):c.12G>A (p.Ala4=)
|
|
|
|
NM_000320.3(QDPR):c.132G>A (p.Glu44=)
|
|
|
|
NM_000320.3(QDPR):c.134A>G (p.Asn45Ser)
|
|
|
|
NM_000320.3(QDPR):c.144C>T (p.Ala48=)
|
|
|
|
NM_000320.3(QDPR):c.153C>G (p.Ser51Arg)
|
rs2108997310
|
|
|
NM_000320.3(QDPR):c.163A>G (p.Lys55Glu)
|
|
|
|
NM_000320.3(QDPR):c.173A>C (p.Asp58Ala)
|
|
|
|
NM_000320.3(QDPR):c.177G>A (p.Ser59=)
|
|
|
|
NM_000320.3(QDPR):c.189G>A (p.Gln63=)
|
|
|
|
NM_000320.3(QDPR):c.18T>G (p.Ala6=)
|
|
|
|
NM_000320.3(QDPR):c.190G>T (p.Ala64Ser)
|
rs1480794443
|
|
|
NM_000320.3(QDPR):c.192T>C (p.Ala64=)
|
|
|
|
NM_000320.3(QDPR):c.196C>T (p.Gln66Ter)
|
|
|
|
NM_000320.3(QDPR):c.198+13A>T
|
|
|
|
NM_000320.3(QDPR):c.198+15G>A
|
|
|
|
NM_000320.3(QDPR):c.198+17C>T
|
|
|
|
NM_000320.3(QDPR):c.198+18C>G
|
|
|
|
NM_000320.3(QDPR):c.198+19C>A
|
|
|
|
NM_000320.3(QDPR):c.198+1G>A
|
rs2108997263
|
|
|
NM_000320.3(QDPR):c.199-15G>A
|
|
|
|
NM_000320.3(QDPR):c.199-16dup
|
rs1277522602
|
|
|
NM_000320.3(QDPR):c.199-18T>A
|
|
|
|
NM_000320.3(QDPR):c.199-7G>A
|
|
|
|
NM_000320.3(QDPR):c.201G>C (p.Val67=)
|
|
|
|
NM_000320.3(QDPR):c.201G>T (p.Val67=)
|
|
|
|
NM_000320.3(QDPR):c.204T>C (p.Thr68=)
|
|
|
|
NM_000320.3(QDPR):c.210G>A (p.Glu70=)
|
|
|
|
NM_000320.3(QDPR):c.219G>A (p.Lys73=)
|
|
|
|
NM_000320.3(QDPR):c.21A>C (p.Ala7=)
|
|
|
|
NM_000320.3(QDPR):c.227G>A (p.Gly76Asp)
|
rs2108994422
|
|
|
NM_000320.3(QDPR):c.240G>A (p.Val80=)
|
|
|
|
NM_000320.3(QDPR):c.246A>C (p.Ala82=)
|
|
|
|
NM_000320.3(QDPR):c.24C>G (p.Gly8=)
|
|
|
|
NM_000320.3(QDPR):c.24C>T (p.Gly8=)
|
|
|
|
NM_000320.3(QDPR):c.256G>A (p.Val86Ile)
|
rs186929388
|
|
|
NM_000320.3(QDPR):c.261T>C (p.Ala87=)
|
|
|
|
NM_000320.3(QDPR):c.264A>C (p.Gly88=)
|
|
|
|
NM_000320.3(QDPR):c.265G>C (p.Gly89Arg)
|
rs1184906056
|
|
|
NM_000320.3(QDPR):c.271G>A (p.Ala91Thr)
|
rs147257284
|
|
|
NM_000320.3(QDPR):c.278del (p.Gly93fs)
|
|
|
|
NM_000320.3(QDPR):c.279C>T (p.Gly93=)
|
|
|
|
NM_000320.3(QDPR):c.285C>G (p.Ala95=)
|
|
|
|
NM_000320.3(QDPR):c.295+19C>T
|
|
|
|
NM_000320.3(QDPR):c.296-14T>C
|
|
|
|
NM_000320.3(QDPR):c.296-15G>T
|
rs776479029
|
|
|
NM_000320.3(QDPR):c.296-17A>G
|
|
|
|
NM_000320.3(QDPR):c.297T>C (p.Ser99=)
|
rs1309099253
|
|
|
NM_000320.3(QDPR):c.308A>G (p.Asn103Ser)
|
rs1248495029
|
|
|
NM_000320.3(QDPR):c.309C>T (p.Asn103=)
|
|
|
|
NM_000320.3(QDPR):c.311G>A (p.Cys104Tyr)
|
rs2108993051
|
|
|
NM_000320.3(QDPR):c.312T>C (p.Cys104=)
|
|
|
|
NM_000320.3(QDPR):c.327G>A (p.Lys109=)
|
|
|
|
NM_000320.3(QDPR):c.328C>T (p.Gln110Ter)
|
|
|
|
NM_000320.3(QDPR):c.331A>G (p.Ser111Gly)
|
rs1404740384
|
|
|
NM_000320.3(QDPR):c.332G>T (p.Ser111Ile)
|
|
|
|
NM_000320.3(QDPR):c.342A>G (p.Thr114=)
|
|
|
|
NM_000320.3(QDPR):c.345G>T (p.Ser115=)
|
|
|
|
NM_000320.3(QDPR):c.348C>T (p.Thr116=)
|
|
|
|
NM_000320.3(QDPR):c.351C>T (p.Ile117=)
|
|
|
|
NM_000320.3(QDPR):c.354C>T (p.Ser118=)
|
|
|
|
NM_000320.3(QDPR):c.361C>T (p.Leu121=)
|
|
|
|
NM_000320.3(QDPR):c.365C>A (p.Ala122Asp)
|
rs1553875105
|
|
|
NM_000320.3(QDPR):c.36G>A (p.Arg12=)
|
rs2108999106
|
|
|
NM_000320.3(QDPR):c.36G>C (p.Arg12=)
|
|
|
|
NM_000320.3(QDPR):c.374A>G (p.His125Arg)
|
rs201283946
|
|
|
NM_000320.3(QDPR):c.378C>A (p.Leu126=)
|
rs2108992993
|
|
|
NM_000320.3(QDPR):c.37G>A (p.Val13Met)
|
|
|
|
NM_000320.3(QDPR):c.385G>A (p.Gly129Arg)
|
|
|
|
NM_000320.3(QDPR):c.390C>A (p.Gly130=)
|
|
|
|
NM_000320.3(QDPR):c.393C>T (p.Leu131=)
|
|
|
|
NM_000320.3(QDPR):c.399C>G (p.Thr133=)
|
rs1331138236
|
|
|
NM_000320.3(QDPR):c.3GGC[4] (p.Ala7del)
|
rs762480653
|
|
|
NM_000320.3(QDPR):c.3GGC[6] (p.Ala7dup)
|
rs762480653
|
|
|
NM_000320.3(QDPR):c.3GGC[7] (p.Ala7_Gly8insAlaAla)
|
|
|
|
NM_000320.3(QDPR):c.40C>T (p.Leu14=)
|
|
|
|
NM_000320.3(QDPR):c.412A>C (p.Lys138Gln)
|
rs2108992947
|
|
|
NM_000320.3(QDPR):c.415G>C (p.Ala139Pro)
|
rs779606633
|
|
|
NM_000320.3(QDPR):c.41T>C (p.Leu14Pro)
|
|
|
|
NM_000320.3(QDPR):c.420C>G (p.Ala140=)
|
|
|
|
NM_000320.3(QDPR):c.42G>A (p.Leu14=)
|
|
|
|
NM_000320.3(QDPR):c.436+11A>G
|
rs1718566849
|
|
|
NM_000320.3(QDPR):c.436+19A>C
|
|
|
|
NM_000320.3(QDPR):c.437-10C>G
|
|
|
|
NM_000320.3(QDPR):c.437-10C>T
|
|
|
|
NM_000320.3(QDPR):c.437-11C>G
|
|
|
|
NM_000320.3(QDPR):c.437-15C>G
|
|
|
|
NM_000320.3(QDPR):c.437-18C>T
|
|
|
|
NM_000320.3(QDPR):c.437-20A>G
|
|
|
|
NM_000320.3(QDPR):c.437-5C>A
|
|
|
|
NM_000320.3(QDPR):c.437-5C>T
|
rs2108987742
|
|
|
NM_000320.3(QDPR):c.437-9A>G
|
|
|
|
NM_000320.3(QDPR):c.445G>A (p.Gly149Arg)
|
rs1028029163
|
|
|
NM_000320.3(QDPR):c.445G>C (p.Gly149Arg)
|
|
|
|
NM_000320.3(QDPR):c.45G>A (p.Val15=)
|
|
|
|
NM_000320.3(QDPR):c.468T>C (p.Ala156=)
|
|
|
|
NM_000320.3(QDPR):c.474C>T (p.His158=)
|
|
|
|
NM_000320.3(QDPR):c.482G>T (p.Cys161Phe)
|
|
|
|
NM_000320.3(QDPR):c.485A>G (p.Gln162Arg)
|
|
|
|
NM_000320.3(QDPR):c.48C>G (p.Tyr16Ter)
|
rs1171544975
|
|
|
NM_000320.3(QDPR):c.504C>T (p.Asn168=)
|
|
|
|
NM_000320.3(QDPR):c.510C>T (p.Gly170=)
|
|
|
|
NM_000320.3(QDPR):c.515C>T (p.Pro172Leu)
|
|
|
|
NM_000320.3(QDPR):c.516G>A (p.Pro172=)
|
rs549416247
|
|
|
NM_000320.3(QDPR):c.516G>C (p.Pro172=)
|
rs549416247
|
|
|
NM_000320.3(QDPR):c.516G>T (p.Pro172=)
|
|
|
|
NM_000320.3(QDPR):c.519C>G (p.Pro173=)
|
|
|
|
NM_000320.3(QDPR):c.51C>A (p.Gly17=)
|
|
|
|
NM_000320.3(QDPR):c.523del (p.Ala175fs)
|
|
|
|
NM_000320.3(QDPR):c.528C>T (p.Ala176=)
|
|
|
|
NM_000320.3(QDPR):c.531C>A (p.Ala177=)
|
|
|
|
NM_000320.3(QDPR):c.531C>T (p.Ala177=)
|
|
|
|
NM_000320.3(QDPR):c.53del (p.Gly18fs)
|
rs2108999089
|
|
|
NM_000320.3(QDPR):c.545+14G>A
|
|
|
|
NM_000320.3(QDPR):c.545+18C>T
|
|
|
|
NM_000320.3(QDPR):c.545+19C>T
|
|
|
|
NM_000320.3(QDPR):c.545+2dup
|
rs1718190006
|
|
|
NM_000320.3(QDPR):c.545+8C>G
|
|
|
|
NM_000320.3(QDPR):c.545+9T>C
|
|
|
|
NM_000320.3(QDPR):c.546-11G>A
|
|
|
|
NM_000320.3(QDPR):c.546-1G>A
|
rs995264302
|
|
|
NM_000320.3(QDPR):c.546-20C>G
|
rs2108986777
|
|
|
NM_000320.3(QDPR):c.546-7A>G
|
|
|
|
NM_000320.3(QDPR):c.546G>A (p.Pro182=)
|
rs1176312266
|
|
|
NM_000320.3(QDPR):c.54C>A (p.Gly18=)
|
|
|
|
NM_000320.3(QDPR):c.553C>T (p.Leu185=)
|
|
|
|
NM_000320.3(QDPR):c.556G>C (p.Asp186His)
|
|
|
|
NM_000320.3(QDPR):c.558T>C (p.Asp186=)
|
|
|
|
NM_000320.3(QDPR):c.560C>A (p.Thr187Asn)
|
rs2108986735
|
|
|
NM_000320.3(QDPR):c.561C>T (p.Thr187=)
|
|
|
|
NM_000320.3(QDPR):c.564G>A (p.Pro188=)
|
|
|
|
NM_000320.3(QDPR):c.576A>G (p.Lys192=)
|
|
|
|
NM_000320.3(QDPR):c.576del (p.Lys192fs)
|
|
|
|
NM_000320.3(QDPR):c.578C>T (p.Ser193Leu)
|
rs2108986715
|
|
|
NM_000320.3(QDPR):c.580A>G (p.Met194Val)
|
|
|
|
NM_000320.3(QDPR):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000320.3(QDPR):c.603C>T (p.Ser201=)
|
rs891408281
|
|
|
NM_000320.3(QDPR):c.609dup (p.Pro204fs)
|
|
|
|
NM_000320.3(QDPR):c.60C>A (p.Gly20=)
|
|
|
|
NM_000320.3(QDPR):c.60C>T (p.Gly20=)
|
|
|
|
NM_000320.3(QDPR):c.612C>T (p.Pro204=)
|
|
|
|
NM_000320.3(QDPR):c.614T>G (p.Leu205Ter)
|
rs1362475419
|
|
|
NM_000320.3(QDPR):c.618A>G (p.Glu206=)
|
|
|
|
NM_000320.3(QDPR):c.629+11_629+12del
|
|
|
|
NM_000320.3(QDPR):c.629+16A>G
|
|
|
|
NM_000320.3(QDPR):c.629+17T>C
|
rs2108986649
|
|
|
NM_000320.3(QDPR):c.629+2T>C
|
|
|
|
NM_000320.3(QDPR):c.629+9T>C
|
rs113400069
|
|
|
NM_000320.3(QDPR):c.630-14A>G
|
|
|
|
NM_000320.3(QDPR):c.630-15T>C
|
rs781122232
|
|
|
NM_000320.3(QDPR):c.630-19C>A
|
|
|
|
NM_000320.3(QDPR):c.630-20A>T
|
|
|
|
NM_000320.3(QDPR):c.630-20del
|
rs746771741
|
|
|
NM_000320.3(QDPR):c.630-20dup
|
|
|
|
NM_000320.3(QDPR):c.630-23_630-20del
|
|
|
|
NM_000320.3(QDPR):c.630-4C>A
|
|
|
|
NM_000320.3(QDPR):c.635T>C (p.Phe212Ser)
|
|
|
|
NM_000320.3(QDPR):c.636C>T (p.Phe212=)
|
rs751389453
|
|
|
NM_000320.3(QDPR):c.639T>C (p.His213=)
|
|
|
|
NM_000320.3(QDPR):c.642C>T (p.Asp214=)
|
|
|
|
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup)
|
rs757385912
|
|
|
NM_000320.3(QDPR):c.662G>A (p.Arg221Gln)
|
rs1478668973
|
|
|
NM_000320.3(QDPR):c.666G>A (p.Pro222=)
|
|
|
|
NM_000320.3(QDPR):c.668G>A (p.Ser223Asn)
|
|
|
|
NM_000320.3(QDPR):c.67G>A (p.Gly23Ser)
|
|
|
|
NM_000320.3(QDPR):c.681A>C (p.Leu227=)
|
|
|
|
NM_000320.3(QDPR):c.689T>C (p.Val230Ala)
|
rs761568067
|
|
|
NM_000320.3(QDPR):c.68G>C (p.Gly23Ala)
|
rs104893863
|
|
|
NM_000320.3(QDPR):c.6G>A (p.Ala2=)
|
|
|
|
NM_000320.3(QDPR):c.70T>G (p.Ser24Ala)
|
|
|
|
NM_000320.3(QDPR):c.711G>A (p.Thr237=)
|
|
|
|
NM_000320.3(QDPR):c.717C>T (p.Leu239=)
|
|
|
|
NM_000320.3(QDPR):c.720C>A (p.Thr240=)
|
|
|
|
NM_000320.3(QDPR):c.75A>C (p.Arg25=)
|
|
|
|
NM_000320.3(QDPR):c.81G>T (p.Val27=)
|
|
|
|
NM_000320.3(QDPR):c.90T>C (p.Phe30=)
|
|
|
|
NM_000320.3(QDPR):c.91C>T (p.Arg31Trp)
|
rs2108999046
|
|
|
NM_000320.3(QDPR):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
|
NM_000329.3(RPE65):c.1002del (p.Phe334fs)
|
|
|
|
NM_000329.3(RPE65):c.1013A>G (p.Tyr338Cys)
|
rs1645875407
|
|
|
NM_000329.3(RPE65):c.1017T>C (p.Asn339=)
|
rs780869180
|
|
|
NM_000329.3(RPE65):c.101T>C (p.Ile34Thr)
|
|
|
|
NM_000329.3(RPE65):c.1020C>T (p.Tyr340=)
|
rs2100817149
|
|
|
NM_000329.3(RPE65):c.1023A>G (p.Leu341=)
|
|
|
|
NM_000329.3(RPE65):c.1028T>G (p.Leu343Ter)
|
rs2100817136
|
|
|
NM_000329.3(RPE65):c.1031C>T (p.Ala344Val)
|
|
|
|
NM_000329.3(RPE65):c.1038A>C (p.Leu346Phe)
|
rs2100817108
|
|
|
NM_000329.3(RPE65):c.1039C>T (p.Arg347Cys)
|
|
|
|
NM_000329.3(RPE65):c.1040G>A (p.Arg347His)
|
rs562037932
|
|
|
NM_000329.3(RPE65):c.1040G>T (p.Arg347Leu)
|
rs562037932
|
|
|
NM_000329.3(RPE65):c.1058T>G (p.Val353Gly)
|
rs2100817038
|
|
|
NM_000329.3(RPE65):c.1059dup (p.Lys354fs)
|
rs2100817031
|
|
|
NM_000329.3(RPE65):c.1060A>G (p.Lys354Glu)
|
|
|
|
NM_000329.3(RPE65):c.1062A>G (p.Lys354=)
|
rs2100817026
|
|
|
NM_000329.3(RPE65):c.1065A>G (p.Lys355=)
|
|
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1071C>G (p.Ala357=)
|
|
|
|
NM_000329.3(RPE65):c.1072A>C (p.Arg358=)
|
rs1307155552
|
|
|
NM_000329.3(RPE65):c.1077G>A (p.Lys359=)
|
|
|
|
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr)
|
rs62646883
|
|
|
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro)
|
rs62646883
|
|
|
NM_000329.3(RPE65):c.1088C>A (p.Pro363His)
|
|
|
|
NM_000329.3(RPE65):c.108C>T (p.Leu36=)
|
rs749757610
|
|
|
NM_000329.3(RPE65):c.1098G>A (p.Arg366=)
|
rs764589805
|
|
|
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
|
rs764589805
|
|
|
NM_000329.3(RPE65):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_000329.3(RPE65):c.10del (p.Gln4fs)
|
rs747393487
|
|
|
NM_000329.3(RPE65):c.11+10T>C
|
|
|
|
NM_000329.3(RPE65):c.11+12T>C
|
|
|
|
NM_000329.3(RPE65):c.11+13G>A
|
|
|
|
NM_000329.3(RPE65):c.11+17G>A
|
|
|
|
NM_000329.3(RPE65):c.11+18A>T
|
|
|
|
NM_000329.3(RPE65):c.11+4_11+7del
|
|
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
|
NM_000329.3(RPE65):c.1115T>C (p.Leu372Ser)
|
|
|
|
NM_000329.3(RPE65):c.1115dup (p.Leu372fs)
|
rs2100816844
|
|
|
NM_000329.3(RPE65):c.1118A>G (p.Asn373Ser)
|
rs1645874179
|
|
|
NM_000329.3(RPE65):c.1119T>C (p.Asn373=)
|
|
|
|
NM_000329.3(RPE65):c.1122T>C (p.Ile374=)
|
|
|
|
NM_000329.3(RPE65):c.1123G>A (p.Asp375Asn)
|
rs1645874113
|
|
|
NM_000329.3(RPE65):c.1123G>C (p.Asp375His)
|
rs1645874113
|
|
|
NM_000329.3(RPE65):c.1125C>T (p.Asp375=)
|
rs771869960
|
|
|
NM_000329.3(RPE65):c.1128+20A>G
|
|
|
|
NM_000329.3(RPE65):c.1128+7T>C
|
|
|
|
NM_000329.3(RPE65):c.1129-12C>G
|
|
|
|
NM_000329.3(RPE65):c.1129-13T>A
|
rs374162988
|
|
|
NM_000329.3(RPE65):c.1129-16T>G
|
|
|
|
NM_000329.3(RPE65):c.1129-18T>G
|
|
|
|
NM_000329.3(RPE65):c.1129-7C>G
|
|
|
|
NM_000329.3(RPE65):c.1137A>G (p.Thr379=)
|
rs2100808086
|
|
|
NM_000329.3(RPE65):c.1148T>G (p.Leu383Ter)
|
|
|
|
NM_000329.3(RPE65):c.1149A>G (p.Leu383=)
|
rs2100808067
|
|
|
NM_000329.3(RPE65):c.1149A>T (p.Leu383Phe)
|
|
|
|
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe)
|
rs1645826797
|
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
|
NM_000329.3(RPE65):c.1158C>T (p.Leu386=)
|
rs2100808030
|
|
|
NM_000329.3(RPE65):c.1161C>T (p.Pro387=)
|
|
|
|
NM_000329.3(RPE65):c.1167A>C (p.Thr389=)
|
rs2100807982
|
|
|
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
|
rs1645826475
|
|
|
NM_000329.3(RPE65):c.1179A>C (p.Ala393=)
|
|
|
|
NM_000329.3(RPE65):c.1179A>G (p.Ala393=)
|
|
|
|
NM_000329.3(RPE65):c.117C>G (p.Thr39=)
|
rs143929144
|
|
|
NM_000329.3(RPE65):c.1183C>A (p.Leu395Met)
|
|
|
|
NM_000329.3(RPE65):c.1185G>C (p.Leu395=)
|
|
|
|
NM_000329.3(RPE65):c.1190G>A (p.Ser397Asn)
|
|
|
|
NM_000329.3(RPE65):c.119G>A (p.Gly40Asp)
|
|
|
|
NM_000329.3(RPE65):c.12-1G>C
|
rs1348031618
|
|
|
NM_000329.3(RPE65):c.12-2A>T
|
|
|
|
NM_000329.3(RPE65):c.12-7A>G
|
rs1645960187
|
|
|
NM_000329.3(RPE65):c.1201_1203dup (p.Ile401dup)
|
rs2100807868
|
|
|
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs)
|
rs62636295
|
|
|
NM_000329.3(RPE65):c.1209G>A (p.Leu403=)
|
|
|
|
NM_000329.3(RPE65):c.1213C>G (p.Pro405Ala)
|
|
|
|
NM_000329.3(RPE65):c.1215T>A (p.Pro405=)
|
|
|
|
NM_000329.3(RPE65):c.1218A>G (p.Glu406=)
|
rs1571158792
|
|
|
NM_000329.3(RPE65):c.1230A>C (p.Ser410=)
|
|
|
|
NM_000329.3(RPE65):c.1234C>T (p.Pro412Ser)
|
|
|
|
NM_000329.3(RPE65):c.1243+14G>A
|
|
|
|
NM_000329.3(RPE65):c.1243+16G>A
|
|
|
|
NM_000329.3(RPE65):c.1243+1G>A
|
rs1421696563
|
|
|
NM_000329.3(RPE65):c.1243+1G>C
|
|
|
|
NM_000329.3(RPE65):c.1243+7T>C
|
|
|
|
NM_000329.3(RPE65):c.1243+8G>A
|
|
|
|
NM_000329.3(RPE65):c.1243+8G>C
|
|
|
|
NM_000329.3(RPE65):c.1243+9A>T
|
rs375375768
|
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
|
NM_000329.3(RPE65):c.1244-19C>A
|
|
|
|
NM_000329.3(RPE65):c.1244-19C>T
|
|
|
|
NM_000329.3(RPE65):c.1244-4G>A
|
|
|
|
NM_000329.3(RPE65):c.1244-4G>T
|
|
|
|
NM_000329.3(RPE65):c.1244-9A>G
|
rs1042120764
|
|
|
NM_000329.3(RPE65):c.1245A>G (p.Ala415=)
|
|
|
|
NM_000329.3(RPE65):c.1248T>C (p.Phe416=)
|
rs780625967
|
|
|
NM_000329.3(RPE65):c.1250A>G (p.Glu417Gly)
|
|
|
|
NM_000329.3(RPE65):c.1251G>A (p.Glu417=)
|
|
|
|
NM_000329.3(RPE65):c.1254T>C (p.Phe418=)
|
rs756785114
|
|
|
NM_000329.3(RPE65):c.1265A>G (p.Asn422Ser)
|
|
|
|
NM_000329.3(RPE65):c.1269C>A (p.Tyr423Ter)
|
|
|
|
NM_000329.3(RPE65):c.1269C>T (p.Tyr423=)
|
rs1355323529
|
|
|
NM_000329.3(RPE65):c.126C>G (p.Leu42=)
|
rs148973921
|
|
|
NM_000329.3(RPE65):c.1278T>C (p.Tyr426=)
|
|
|
|
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
|
|
|
|
NM_000329.3(RPE65):c.1291T>C (p.Tyr431His)
|
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
|
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
|
|
|
|
NM_000329.3(RPE65):c.1294A>C (p.Thr432Pro)
|
rs1645824500
|
|
|
NM_000329.3(RPE65):c.1294A>T (p.Thr432Ser)
|
rs1645824500
|
|
|
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
|
rs147206805
|
|
|
NM_000329.3(RPE65):c.1299T>A (p.Tyr433Ter)
|
|
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
|
NM_000329.3(RPE65):c.1302G>T (p.Ala434=)
|
|
|
|
NM_000329.3(RPE65):c.1305T>C (p.Tyr435=)
|
|
|
|
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu)
|
rs62637002
|
|
|
NM_000329.3(RPE65):c.1314C>A (p.Gly438=)
|
|
|
|
NM_000329.3(RPE65):c.131G>C (p.Arg44Pro)
|
|
|
|
NM_000329.3(RPE65):c.131G>T (p.Arg44Leu)
|
rs61751282
|
|
|
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
|
rs1645824226
|
|
|
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
|
rs1645824187
|
|
|
NM_000329.3(RPE65):c.1335T>C (p.Asp445=)
|
rs746506594
|
|
|
NM_000329.3(RPE65):c.1338+10C>T
|
rs2100807260
|
|
|
NM_000329.3(RPE65):c.1338+11C>G
|
|
|
|
NM_000329.3(RPE65):c.1338+13T>C
|
|
|
|
NM_000329.3(RPE65):c.1338+15T>C
|
|
|
|
NM_000329.3(RPE65):c.1338+17A>T
|
|
|
|
NM_000329.3(RPE65):c.1338+19T>A
|
|
|
|
NM_000329.3(RPE65):c.1338+1G>A
|
rs1057518922
|
|
|
NM_000329.3(RPE65):c.1338+3A>T
|
rs1645824066
|
|
|
NM_000329.3(RPE65):c.1338+9T>A
|
rs2100807262
|
|
|
NM_000329.3(RPE65):c.1339-11C>T
|
|
|
|
NM_000329.3(RPE65):c.1339-2A>G
|
|
|
|
NM_000329.3(RPE65):c.1339-3C>G
|
|
|
|
NM_000329.3(RPE65):c.1339-4del
|
|
|
|
NM_000329.3(RPE65):c.1341C>G (p.Leu447=)
|
rs2100807097
|
|
|
NM_000329.3(RPE65):c.1357A>G (p.Lys453Glu)
|
|
|
|
NM_000329.3(RPE65):c.1359A>T (p.Lys453Asn)
|
|
|
|
NM_000329.3(RPE65):c.1360del (p.Thr454fs)
|
rs2100807036
|
|
|
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
|
rs1645823028
|
|
|
NM_000329.3(RPE65):c.1380G>T (p.Trp460Cys)
|
rs1645823028
|
|
|
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)
|
rs62637006
|
|
|
NM_000329.3(RPE65):c.1395A>G (p.Ser465=)
|
rs764923358
|
|
|
NM_000329.3(RPE65):c.1396_1397dup (p.Pro467fs)
|
|
|
|
NM_000329.3(RPE65):c.1398C>A (p.Tyr466Ter)
|
|
|
|
NM_000329.3(RPE65):c.1399C>A (p.Pro467Thr)
|
rs1395763356
|
|
|
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser)
|
rs1395763356
|
|
|
NM_000329.3(RPE65):c.1401A>G (p.Pro467=)
|
|
|
|
NM_000329.3(RPE65):c.1402T>A (p.Ser468Thr)
|
rs2100806926
|
|
|
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)
|
rs2100806889
|
|
|
NM_000329.3(RPE65):c.1409C>A (p.Pro470His)
|
rs774211361
|
|
|
NM_000329.3(RPE65):c.1409C>T (p.Pro470Leu)
|
rs774211361
|
|
|
NM_000329.3(RPE65):c.1412T>C (p.Ile471Thr)
|
|
|
|
NM_000329.3(RPE65):c.1424A>C (p.His475Pro)
|
rs2100806867
|
|
|
NM_000329.3(RPE65):c.1429G>C (p.Asp477His)
|
rs2100806843
|
|
|
NM_000329.3(RPE65):c.142_143del (p.Gly48fs)
|
|
|
|
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)
|
rs1571158279
|
|
|
NM_000329.3(RPE65):c.1432G>A (p.Ala478Thr)
|
rs2100806829
|
|
|
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)
|
rs1557595745
|
|
|
NM_000329.3(RPE65):c.1444G>T (p.Asp482Tyr)
|
rs2100806802
|
|
|
NM_000329.3(RPE65):c.1450+10G>A
|
rs1009277050
|
|
|
NM_000329.3(RPE65):c.1450+13A>C
|
rs371783875
|
|
|
NM_000329.3(RPE65):c.1450+13A>G
|
|
|
|
NM_000329.3(RPE65):c.1450+19G>C
|
|
|
|
NM_000329.3(RPE65):c.1450+20T>C
|
|
|
|
NM_000329.3(RPE65):c.1450+20T>G
|
|
|
|
NM_000329.3(RPE65):c.1450+3A>G
|
|
|
|
NM_000329.3(RPE65):c.1451-1G>A
|
rs1317871521
|
|
|
NM_000329.3(RPE65):c.1451-6A>T
|
rs2100805367
|
|
|
NM_000329.3(RPE65):c.1451-9G>C
|
rs1291761354
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.1455A>G (p.Val485=)
|
|
|
|
NM_000329.3(RPE65):c.1456G>A (p.Val486Ile)
|
|
|
|
NM_000329.3(RPE65):c.1456G>T (p.Val486Phe)
|
rs2100805317
|
|
|
NM_000329.3(RPE65):c.1458T>A (p.Val486=)
|
rs2100805312
|
|
|
NM_000329.3(RPE65):c.1459del (p.Val486_Leu487insTer)
|
|
|
|
NM_000329.3(RPE65):c.1461G>C (p.Leu487=)
|
|
|
|
NM_000329.3(RPE65):c.1464T>C (p.Ser488=)
|
rs769814819
|
|
|
NM_000329.3(RPE65):c.1473G>A (p.Val491=)
|
|
|
|
NM_000329.3(RPE65):c.1476C>T (p.Ser492=)
|
rs778912170
|
|
|
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
|
rs1645945978
|
|
|
NM_000329.3(RPE65):c.1491A>G (p.Gln497=)
|
rs766848627
|
|
|
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu)
|
rs1557595139
|
|
|
NM_000329.3(RPE65):c.1501_1505del (p.Tyr501fs)
|
rs2100805193
|
|
|
NM_000329.3(RPE65):c.1509G>A (p.Leu503=)
|
rs750750345
|
|
|
NM_000329.3(RPE65):c.1513C>T (p.Leu505=)
|
|
|
|
NM_000329.3(RPE65):c.1515G>A (p.Leu505=)
|
rs2100805164
|
|
|
NM_000329.3(RPE65):c.1518T>C (p.Asn506=)
|
rs2100805159
|
|
|
NM_000329.3(RPE65):c.1524G>A (p.Lys508=)
|
rs369335287
|
|
|
NM_000329.3(RPE65):c.1524G>C (p.Lys508Asn)
|
|
|
|
NM_000329.3(RPE65):c.1525G>A (p.Asp509Asn)
|
|
|
|
NM_000329.3(RPE65):c.1528T>C (p.Leu510=)
|
|
|
|
NM_000329.3(RPE65):c.1532G>A (p.Ser511Asn)
|
rs1645807408
|
|
|
NM_000329.3(RPE65):c.1534G>A (p.Glu512Lys)
|
|
|
|
NM_000329.3(RPE65):c.1545G>A (p.Arg515=)
|
rs2100805075
|
|
|
NM_000329.3(RPE65):c.1554G>A (p.Val518=)
|
|
|
|
NM_000329.3(RPE65):c.1555G>A (p.Glu519Lys)
|
rs373274945
|
|
|
NM_000329.3(RPE65):c.1560T>A (p.Ile520=)
|
|
|
|
NM_000329.3(RPE65):c.1563C>T (p.Asn521=)
|
|
|
|
NM_000329.3(RPE65):c.156T>G (p.Val52=)
|
rs1645945856
|
|
|
NM_000329.3(RPE65):c.1578T>C (p.Phe526=)
|
|
|
|
NM_000329.3(RPE65):c.1580A>G (p.His527Arg)
|
rs1194458561
|
|
|
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg)
|
rs150832066
|
|
|
NM_000329.3(RPE65):c.1584A>G (p.Gly528=)
|
rs2100804966
|
|
|
NM_000329.3(RPE65):c.1587G>C (p.Leu529=)
|
|
|
|
NM_000329.3(RPE65):c.158G>A (p.Gly53Glu)
|
|
|
|
NM_000329.3(RPE65):c.158G>T (p.Gly53Val)
|
rs763536294
|
|
|
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu)
|
rs2100804954
|
|
|
NM_000329.3(RPE65):c.1590del (p.Phe530fs)
|
rs281865292
|
|
|
NM_000329.3(RPE65):c.1596A>G (p.Lys532=)
|
|
|
|
NM_000329.3(RPE65):c.162T>C (p.Ser54=)
|
rs2100831350
|
|
|
NM_000329.3(RPE65):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_000329.3(RPE65):c.171T>G (p.Phe57Leu)
|
rs2100831318
|
|
|
NM_000329.3(RPE65):c.174C>T (p.Tyr58=)
|
|
|
|
NM_000329.3(RPE65):c.180G>C (p.Leu60=)
|
rs2100831297
|
|
|
NM_000329.3(RPE65):c.198C>T (p.Leu66=)
|
|
|
|
NM_000329.3(RPE65):c.199C>T (p.Leu67=)
|
rs1219400458
|
|
|
NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)
|
rs1344724754
|
|
|
NM_000329.3(RPE65):c.20A>G (p.His7Arg)
|
|
|
|
NM_000329.3(RPE65):c.213C>T (p.Asp71=)
|
rs1297442944
|
|
|
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser)
|
rs1553153597
|
|
|
NM_000329.3(RPE65):c.219A>G (p.Lys73=)
|
|
|
|
NM_000329.3(RPE65):c.220G>A (p.Glu74Lys)
|
rs2100831197
|
|
|
NM_000329.3(RPE65):c.220G>C (p.Glu74Gln)
|
rs2100831197
|
|
|
NM_000329.3(RPE65):c.221A>G (p.Glu74Gly)
|
rs2100831191
|
|
|
NM_000329.3(RPE65):c.225A>G (p.Gly75=)
|
|
|
|
NM_000329.3(RPE65):c.225A>T (p.Gly75=)
|
|
|
|
NM_000329.3(RPE65):c.227A>G (p.His76Arg)
|
rs1571172233
|
|
|
NM_000329.3(RPE65):c.234A>G (p.Thr78=)
|
|
|
|
NM_000329.3(RPE65):c.240C>T (p.His80=)
|
|
|
|
NM_000329.3(RPE65):c.243A>G (p.Arg81=)
|
|
|
|
NM_000329.3(RPE65):c.245+11del
|
|
|
|
NM_000329.3(RPE65):c.245+18G>A
|
|
|
|
NM_000329.3(RPE65):c.245+7C>G
|
|
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
|
NM_000329.3(RPE65):c.246-12A>G
|
|
|
|
NM_000329.3(RPE65):c.246-24_246-20del
|
rs752554231
|
|
|
NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)
|
rs2100828545
|
|
|
NM_000329.3(RPE65):c.24T>C (p.Pro8=)
|
rs2100834378
|
|
|
NM_000329.3(RPE65):c.252C>A (p.Ile84=)
|
rs1645931175
|
|
|
NM_000329.3(RPE65):c.256A>G (p.Thr86Ala)
|
rs2100828493
|
|
|
NM_000329.3(RPE65):c.257C>A (p.Thr86Asn)
|
rs1645931073
|
|
|
NM_000329.3(RPE65):c.260A>G (p.Asp87Gly)
|
rs1645931040
|
|
|
NM_000329.3(RPE65):c.270A>G (p.Val90=)
|
|
|
|
NM_000329.3(RPE65):c.280A>G (p.Thr94Ala)
|
rs1645930710
|
|
|
NM_000329.3(RPE65):c.280A>T (p.Thr94Ser)
|
|
|
|
NM_000329.3(RPE65):c.284A>G (p.Glu95Gly)
|
|
|
|
NM_000329.3(RPE65):c.291G>A (p.Arg97=)
|
rs754533608
|
|
|
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr)
|
rs1645930635
|
|
|
NM_000329.3(RPE65):c.294C>A (p.Ile98=)
|
rs367983478
|
|
|
NM_000329.3(RPE65):c.294C>T (p.Ile98=)
|
rs367983478
|
|
|
NM_000329.3(RPE65):c.297C>T (p.Val99=)
|
rs2100828363
|
|
|
NM_000329.3(RPE65):c.303A>G (p.Thr101=)
|
rs2100828338
|
|
|
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser)
|
rs1645930469
|
|
|
NM_000329.3(RPE65):c.310G>A (p.Gly104Ser)
|
|
|
|
NM_000329.3(RPE65):c.311G>A (p.Gly104Asp)
|
|
|
|
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)
|
rs1260914084
|
|
|
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
|
|
|
|
NM_000329.3(RPE65):c.318T>C (p.Cys106=)
|
|
|
|
NM_000329.3(RPE65):c.325C>T (p.Pro109Ser)
|
|
|
|
NM_000329.3(RPE65):c.336C>A (p.Cys112Ter)
|
|
|
|
NM_000329.3(RPE65):c.34dup (p.Tyr12fs)
|
|
|
|
NM_000329.3(RPE65):c.353+10C>T
|
rs2100828143
|
|
|
NM_000329.3(RPE65):c.353+11C>G
|
|
|
|
NM_000329.3(RPE65):c.353+14A>C
|
|
|
|
NM_000329.3(RPE65):c.353+15A>G
|
|
|
|
NM_000329.3(RPE65):c.353+20A>T
|
|
|
|
NM_000329.3(RPE65):c.353+4A>T
|
rs1299116346
|
|
|
NM_000329.3(RPE65):c.353+8A>C
|
|
|
|
NM_000329.3(RPE65):c.353+8A>G
|
rs1645929465
|
|
|
NM_000329.3(RPE65):c.354-10G>T
|
|
|
|
NM_000329.3(RPE65):c.354-15C>T
|
|
|
|
NM_000329.3(RPE65):c.354-1G>A
|
rs2100827985
|
|
|
NM_000329.3(RPE65):c.354-1G>T
|
rs2100827985
|
|
|
NM_000329.3(RPE65):c.354-2del
|
rs2100827990
|
|
|
NM_000329.3(RPE65):c.361del (p.Ser121fs)
|
rs121918844
|
|
|
NM_000329.3(RPE65):c.361dup (p.Ser121fs)
|
rs121918844
|
|
|
NM_000329.3(RPE65):c.366C>A (p.Tyr122Ter)
|
|
|
|
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
|
rs1479443954
|
|
|
NM_000329.3(RPE65):c.371G>A (p.Arg124Gln)
|
|
|
|
NM_000329.3(RPE65):c.372A>C (p.Arg124=)
|
rs2100827903
|
|
|
NM_000329.3(RPE65):c.37A>C (p.Lys13Gln)
|
|
|
|
NM_000329.3(RPE65):c.37A>G (p.Lys13Glu)
|
|
|
|
NM_000329.3(RPE65):c.382G>A (p.Val128Ile)
|
|
|
|
NM_000329.3(RPE65):c.386C>T (p.Thr129Ile)
|
rs768336015
|
|
|
NM_000329.3(RPE65):c.390C>T (p.Asp130=)
|
rs2100827854
|
|
|
NM_000329.3(RPE65):c.3G>A (p.Met1Ile)
|
rs1357241537
|
|
|
NM_000329.3(RPE65):c.400G>A (p.Val134Ile)
|
|
|
|
NM_000329.3(RPE65):c.400_402del (p.Val134del)
|
rs1170746947
|
|
|
NM_000329.3(RPE65):c.405T>A (p.Asn135Lys)
|
rs1645928294
|
|
|
NM_000329.3(RPE65):c.406G>C (p.Val136Leu)
|
|
|
|
NM_000329.3(RPE65):c.411C>A (p.Tyr137Ter)
|
|
|
|
NM_000329.3(RPE65):c.411C>G (p.Tyr137Ter)
|
|
|
|
NM_000329.3(RPE65):c.414A>C (p.Pro138=)
|
rs777483146
|
|
|
NM_000329.3(RPE65):c.415G>A (p.Val139Met)
|
|
|
|
NM_000329.3(RPE65):c.417G>T (p.Val139=)
|
rs536073181
|
|
|
NM_000329.3(RPE65):c.420G>A (p.Gly140=)
|
rs1571170264
|
|
|
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)
|
rs1469460289
|
|
|
NM_000329.3(RPE65):c.425A>T (p.Asp142Val)
|
|
|
|
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp)
|
rs61752880
|
|
|
NM_000329.3(RPE65):c.432C>G (p.Tyr144Ter)
|
rs56021047
|
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
|
NM_000329.3(RPE65):c.434C>T (p.Ala145Val)
|
|
|
|
NM_000329.3(RPE65):c.435T>C (p.Ala145=)
|
rs2100827657
|
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
|
NM_000329.3(RPE65):c.447C>A (p.Thr149=)
|
|
|
|
NM_000329.3(RPE65):c.447C>T (p.Thr149=)
|
rs750892483
|
|
|
NM_000329.3(RPE65):c.455T>C (p.Ile152Thr)
|
|
|
|
NM_000329.3(RPE65):c.456T>C (p.Ile152=)
|
|
|
|
NM_000329.3(RPE65):c.459A>C (p.Thr153=)
|
|
|
|
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn)
|
rs2100827532
|
|
|
NM_000329.3(RPE65):c.46_49del (p.Phe16fs)
|
rs866809120
|
|
|
NM_000329.3(RPE65):c.471A>T (p.Pro157=)
|
|
|
|
NM_000329.3(RPE65):c.485C>T (p.Thr162Ile)
|
rs1360779220
|
|
|
NM_000329.3(RPE65):c.495+12T>C
|
|
|
|
NM_000329.3(RPE65):c.495+13G>A
|
|
|
|
NM_000329.3(RPE65):c.495+1dup
|
rs281865288
|
|
|
NM_000329.3(RPE65):c.495+7C>T
|
|
|
|
NM_000329.3(RPE65):c.495+8A>G
|
rs780898366
|
|
|
NM_000329.3(RPE65):c.496-12T>C
|
|
|
|
NM_000329.3(RPE65):c.496-19A>G
|
|
|
|
NM_000329.3(RPE65):c.496-1G>A
|
rs2100821984
|
|
|
NM_000329.3(RPE65):c.497T>C (p.Val166Ala)
|
rs2100821973
|
|
|
NM_000329.3(RPE65):c.498T>C (p.Val166=)
|
|
|
|
NM_000329.3(RPE65):c.501T>C (p.Asp167=)
|
rs2100821961
|
|
|
NM_000329.3(RPE65):c.504_580del (p.Cys169fs)
|
rs2100821707
|
|
|
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
|
rs1645898563
|
|
|
NM_000329.3(RPE65):c.513T>A (p.Tyr171Ter)
|
|
|
|
NM_000329.3(RPE65):c.513T>C (p.Tyr171=)
|
|
|
|
NM_000329.3(RPE65):c.528G>A (p.Gly176=)
|
|
|
|
NM_000329.3(RPE65):c.528G>C (p.Gly176=)
|
|
|
|
NM_000329.3(RPE65):c.528_529del (p.Ala177fs)
|
rs2100821898
|
|
|
NM_000329.3(RPE65):c.535G>A (p.Ala179Thr)
|
rs1645898290
|
|
|
NM_000329.3(RPE65):c.536C>T (p.Ala179Val)
|
rs1645898265
|
|
|
NM_000329.3(RPE65):c.53C>G (p.Thr18Ser)
|
rs1645959906
|
|
|
NM_000329.3(RPE65):c.544C>T (p.His182Tyr)
|
rs61752884
|
|
|
NM_000329.3(RPE65):c.545A>G (p.His182Arg)
|
rs1459110114
|
|
|
NM_000329.3(RPE65):c.548T>C (p.Ile183Thr)
|
|
|
|
NM_000329.3(RPE65):c.557A>T (p.Asp186Val)
|
|
|
|
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
|
|
|
|
NM_000329.3(RPE65):c.56T>A (p.Val19Glu)
|
rs1645959875
|
|
|
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)
|
rs1189903735
|
|
|
NM_000329.3(RPE65):c.576T>C (p.Ile192=)
|
rs747122876
|
|
|
NM_000329.3(RPE65):c.579T>G (p.Gly193=)
|
rs2100821713
|
|
|
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)
|
rs755545288
|
|
|
NM_000329.3(RPE65):c.596del (p.Asn199fs)
|
|
|
|
NM_000329.3(RPE65):c.597T>A (p.Asn199Lys)
|
|
|
|
NM_000329.3(RPE65):c.598T>G (p.Phe200Val)
|
rs1406145019
|
|
|
NM_000329.3(RPE65):c.601del (p.Ser201fs)
|
|
|
|
NM_000329.3(RPE65):c.609C>T (p.Ala203=)
|
rs61752886
|
|
|
NM_000329.3(RPE65):c.612C>T (p.Tyr204=)
|
rs1557600983
|
|
|
NM_000329.3(RPE65):c.615_616del (p.Ile206fs)
|
rs61752888
|
|
|
NM_000329.3(RPE65):c.616A>G (p.Ile206Val)
|
|
|
|
NM_000329.3(RPE65):c.61G>T (p.Glu21Ter)
|
|
|
|
NM_000329.3(RPE65):c.61del (p.Glu21fs)
|
rs758550330
|
|
|
NM_000329.3(RPE65):c.624G>T (p.Lys208Asn)
|
rs1170839612
|
|
|
NM_000329.3(RPE65):c.625A>T (p.Ile209Phe)
|
|
|
|
NM_000329.3(RPE65):c.627C>A (p.Ile209=)
|
rs1408756289
|
|
|
NM_000329.3(RPE65):c.629C>G (p.Pro210Arg)
|
rs757538512
|
|
|
NM_000329.3(RPE65):c.633A>G (p.Pro211=)
|
|
|
|
NM_000329.3(RPE65):c.636G>A (p.Leu212=)
|
|
|
|
NM_000329.3(RPE65):c.637C>T (p.Gln213Ter)
|
rs777966849
|
|
|
NM_000329.3(RPE65):c.638A>C (p.Gln213Pro)
|
rs1224080719
|
|
|
NM_000329.3(RPE65):c.641C>T (p.Ala214Val)
|
|
|
|
NM_000329.3(RPE65):c.643+15C>A
|
|
|
|
NM_000329.3(RPE65):c.643+18T>C
|
|
|
|
NM_000329.3(RPE65):c.643+19C>A
|
|
|
|
NM_000329.3(RPE65):c.643+20C>T
|
|
|
|
NM_000329.3(RPE65):c.643+2T>A
|
rs1645896934
|
|
|
NM_000329.3(RPE65):c.643+3G>A
|
rs1277690393
|
|
|
NM_000329.3(RPE65):c.643+9del
|
|
|
|
NM_000329.3(RPE65):c.644-13C>T
|
|
|
|
NM_000329.3(RPE65):c.644-14C>G
|
rs1645886573
|
|
|
NM_000329.3(RPE65):c.644-14C>T
|
|
|
|
NM_000329.3(RPE65):c.644-1G>A
|
|
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
|
NM_000329.3(RPE65):c.644-7A>C
|
|
|
|
NM_000329.3(RPE65):c.644-9T>G
|
rs2100819936
|
|
|
NM_000329.3(RPE65):c.645C>T (p.Asp215=)
|
rs1202083660
|
|
|
NM_000329.3(RPE65):c.646A>T (p.Lys216Ter)
|
|
|
|
NM_000329.3(RPE65):c.648G>A (p.Lys216=)
|
|
|
|
NM_000329.3(RPE65):c.64C>T (p.Leu22=)
|
rs754228407
|
|
|
NM_000329.3(RPE65):c.650A>T (p.Glu217Val)
|
rs777646597
|
|
|
NM_000329.3(RPE65):c.652G>T (p.Asp218Tyr)
|
|
|
|
NM_000329.3(RPE65):c.658A>G (p.Ile220Val)
|
|
|
|
NM_000329.3(RPE65):c.672_673del (p.Glu224fs)
|
|
|
|
NM_000329.3(RPE65):c.675C>T (p.Ile225=)
|
rs114379164
|
|
|
NM_000329.3(RPE65):c.676G>T (p.Val226Phe)
|
|
|
|
NM_000329.3(RPE65):c.678T>C (p.Val226=)
|
|
|
|
NM_000329.3(RPE65):c.690C>T (p.Pro230=)
|
|
|
|
NM_000329.3(RPE65):c.69C>T (p.Ser23=)
|
rs1645959675
|
|
|
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)
|
rs1645885900
|
|
|
NM_000329.3(RPE65):c.708G>A (p.Lys236=)
|
rs2100819732
|
|
|
NM_000329.3(RPE65):c.711A>G (p.Pro237=)
|
|
|
|
NM_000329.3(RPE65):c.714T>C (p.Ser238=)
|
rs1159440503
|
|
|
NM_000329.3(RPE65):c.716dup (p.Tyr239Ter)
|
|
|
|
NM_000329.3(RPE65):c.717C>G (p.Tyr239Ter)
|
|
|
|
NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
|
rs192907397
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
|
NM_000329.3(RPE65):c.723T>C (p.His241=)
|
|
|
|
NM_000329.3(RPE65):c.725+12G>T
|
|
|
|
NM_000329.3(RPE65):c.725+19A>G
|
|
|
|
NM_000329.3(RPE65):c.725+1G>A
|
rs1260969698
|
|
|
NM_000329.3(RPE65):c.725+1G>T
|
|
|
|
NM_000329.3(RPE65):c.725+20T>C
|
|
|
|
NM_000329.3(RPE65):c.725+2T>C
|
rs1355979496
|
|
|
NM_000329.3(RPE65):c.725+5C>T
|
rs923933222
|
|
|
NM_000329.3(RPE65):c.725+6T>C
|
rs2100819643
|
|
|
NM_000329.3(RPE65):c.725+8G>A
|
rs1286528844
|
|
|
NM_000329.3(RPE65):c.725+8G>C
|
rs1286528844
|
|
|
NM_000329.3(RPE65):c.725+9A>G
|
rs111518661
|
|
|
NM_000329.3(RPE65):c.726-13T>C
|
|
|
|
NM_000329.3(RPE65):c.726-16T>C
|
rs2100819317
|
|
|
NM_000329.3(RPE65):c.726-17T>C
|
|
|
|
NM_000329.3(RPE65):c.726-1G>A
|
|
|
|
NM_000329.3(RPE65):c.726-20C>T
|
|
|
|
NM_000329.3(RPE65):c.726-2A>C
|
rs878853372
|
|
|
NM_000329.3(RPE65):c.726-2A>T
|
rs878853372
|
|
|
NM_000329.3(RPE65):c.726-3C>A
|
|
|
|
NM_000329.3(RPE65):c.72G>A (p.Ser24=)
|
rs1282164855
|
|
|
NM_000329.3(RPE65):c.72G>C (p.Ser24=)
|
rs1282164855
|
|
|
NM_000329.3(RPE65):c.72G>T (p.Ser24=)
|
|
|
|
NM_000329.3(RPE65):c.72_73insAGGAACTGT (p.Ser24_Pro25insArgAsnCys)
|
rs2100834242
|
|
|
NM_000329.3(RPE65):c.731G>A (p.Gly244Asp)
|
rs2100819283
|
|
|
NM_000329.3(RPE65):c.735G>C (p.Leu245=)
|
rs2100819271
|
|
|
NM_000329.3(RPE65):c.744C>T (p.Asn248=)
|
rs1343005273
|
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
|
NM_000329.3(RPE65):c.750del (p.Ile250fs)
|
|
|
|
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
|
rs1325815513
|
|
|
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser)
|
rs1553153135
|
|
|
NM_000329.3(RPE65):c.768A>C (p.Pro256=)
|
|
|
|
NM_000329.3(RPE65):c.775dup (p.Ile259fs)
|
rs2100819197
|
|
|
NM_000329.3(RPE65):c.777dup (p.Asn260Ter)
|
rs2100819190
|
|
|
NM_000329.3(RPE65):c.782T>C (p.Leu261Pro)
|
|
|
|
NM_000329.3(RPE65):c.786C>T (p.Phe262=)
|
|
|
|
NM_000329.3(RPE65):c.78C>T (p.Leu26=)
|
|
|
|
NM_000329.3(RPE65):c.798T>A (p.Ser266=)
|
rs1645882700
|
|
|
NM_000329.3(RPE65):c.802T>A (p.Trp268Arg)
|
|
|
|
NM_000329.3(RPE65):c.803G>A (p.Trp268Ter)
|
|
|
|
NM_000329.3(RPE65):c.818C>A (p.Ala273Asp)
|
|
|
|
NM_000329.3(RPE65):c.819C>T (p.Ala273=)
|
rs2100819102
|
|
|
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter)
|
rs988133284
|
|
|
NM_000329.3(RPE65):c.826A>G (p.Met276Val)
|
|
|
|
NM_000329.3(RPE65):c.829_833del (p.Asp277fs)
|
rs1645882447
|
|
|
NM_000329.3(RPE65):c.82G>T (p.Ala28Ser)
|
|
|
|
NM_000329.3(RPE65):c.83C>A (p.Ala28Asp)
|
|
|
|
NM_000329.3(RPE65):c.840G>C (p.Glu280Asp)
|
|
|
|
NM_000329.3(RPE65):c.84T>C (p.Ala28=)
|
|
|
|
NM_000329.3(RPE65):c.851C>T (p.Thr284Ile)
|
|
|
|
NM_000329.3(RPE65):c.852C>T (p.Thr284=)
|
|
|
|
NM_000329.3(RPE65):c.853A>T (p.Met285Leu)
|
|
|
|
NM_000329.3(RPE65):c.858+10A>C
|
rs2100818982
|
|
|
NM_000329.3(RPE65):c.858+13T>C
|
rs2100818973
|
|
|
NM_000329.3(RPE65):c.858+14A>G
|
|
|
|
NM_000329.3(RPE65):c.858+15T>C
|
|
|
|
NM_000329.3(RPE65):c.858+1G>A
|
rs61752899
|
|
|
NM_000329.3(RPE65):c.858+1G>C
|
|
|
|
NM_000329.3(RPE65):c.858+1G>T
|
rs61752899
|
|
|
NM_000329.3(RPE65):c.859-13C>T
|
|
|
|
NM_000329.3(RPE65):c.859-17T>G
|
rs1418885901
|
|
|
NM_000329.3(RPE65):c.859-19A>G
|
|
|
|
NM_000329.3(RPE65):c.859-2A>C
|
|
|
|
NM_000329.3(RPE65):c.859-4C>G
|
rs1571165470
|
|
|
NM_000329.3(RPE65):c.859-5dup
|
|
|
|
NM_000329.3(RPE65):c.86A>G (p.His29Arg)
|
|
|
|
NM_000329.3(RPE65):c.871A>G (p.Ile291Val)
|
|
|
|
NM_000329.3(RPE65):c.872T>C (p.Ile291Thr)
|
|
|
|
NM_000329.3(RPE65):c.879C>T (p.Asp293=)
|
|
|
|
NM_000329.3(RPE65):c.87T>C (p.His29=)
|
|
|
|
NM_000329.3(RPE65):c.880A>G (p.Lys294Glu)
|
|
|
|
NM_000329.3(RPE65):c.882A>G (p.Lys294=)
|
rs1381189679
|
|
|
NM_000329.3(RPE65):c.885A>G (p.Lys295=)
|
|
|
|
NM_000329.3(RPE65):c.886del (p.Arg296fs)
|
rs746127684
|
|
|
NM_000329.3(RPE65):c.886dup (p.Arg296fs)
|
rs746127684
|
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
|
NM_000329.3(RPE65):c.89dup (p.Thr31fs)
|
rs281865286
|
|
|
NM_000329.3(RPE65):c.902A>C (p.Asn301Thr)
|
|
|
|
NM_000329.3(RPE65):c.90A>G (p.Val30=)
|
rs2100834158
|
|
|
NM_000329.3(RPE65):c.912C>G (p.Tyr304Ter)
|
rs2100818575
|
|
|
NM_000329.3(RPE65):c.922C>T (p.Pro308Ser)
|
|
|
|
NM_000329.3(RPE65):c.94+10G>C
|
|
|
|
NM_000329.3(RPE65):c.94+10G>T
|
rs777879312
|
|
|
NM_000329.3(RPE65):c.94+11C>A
|
|
|
|
NM_000329.3(RPE65):c.94+13C>T
|
|
|
|
NM_000329.3(RPE65):c.94+14A>G
|
|
|
|
NM_000329.3(RPE65):c.94+15T>C
|
|
|
|
NM_000329.3(RPE65):c.94+17T>A
|
|
|
|
NM_000329.3(RPE65):c.94+18T>G
|
rs748142481
|
|
|
NM_000329.3(RPE65):c.94+9C>T
|
rs747174742
|
|
|
NM_000329.3(RPE65):c.943_950del (p.Ile315fs)
|
rs2100818444
|
|
|
NM_000329.3(RPE65):c.945C>T (p.Ile315=)
|
|
|
|
NM_000329.3(RPE65):c.946A>G (p.Asn316Asp)
|
rs2100818454
|
|
|
NM_000329.3(RPE65):c.948C>T (p.Asn316=)
|
rs2100818448
|
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
|
NM_000329.3(RPE65):c.95-12C>A
|
|
|
|
NM_000329.3(RPE65):c.95-13C>T
|
|
|
|
NM_000329.3(RPE65):c.95-14C>G
|
|
|
|
NM_000329.3(RPE65):c.95-14C>T
|
|
|
|
NM_000329.3(RPE65):c.95-15_95-13dup
|
|
|
|
NM_000329.3(RPE65):c.95-18G>C
|
|
|
|
NM_000329.3(RPE65):c.95-1G>C
|
|
|
|
NM_000329.3(RPE65):c.95-5C>T
|
rs2100831568
|
|
|
NM_000329.3(RPE65):c.95-8C>T
|
|
|
|
NM_000329.3(RPE65):c.951C>T (p.Thr317=)
|
rs1645880052
|
|
|
NM_000329.3(RPE65):c.954T>C (p.Tyr318=)
|
rs1444997062
|
|
|
NM_000329.3(RPE65):c.960C>T (p.Asp320=)
|
|
|
|
NM_000329.3(RPE65):c.962dup (p.Asn321fs)
|
rs61752906
|
|
|
NM_000329.3(RPE65):c.963T>C (p.Asn321=)
|
|
|
|
NM_000329.3(RPE65):c.966G>A (p.Gly322=)
|
rs1400399381
|
|
|
NM_000329.3(RPE65):c.96C>G (p.Gly32=)
|
rs2100831551
|
|
|
NM_000329.3(RPE65):c.972G>C (p.Leu324=)
|
|
|
|
NM_000329.3(RPE65):c.972G>T (p.Leu324=)
|
rs2100818359
|
|
|
NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
|
|
NM_000329.3(RPE65):c.981T>C (p.Asp327=)
|
rs2100818330
|
|
|
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)
|
rs1169420841
|
|
|
NM_000329.3(RPE65):c.985del (p.Cys329fs)
|
|
|
|
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)
|
rs61752908
|
|
|
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup)
|
rs1571165140
|
|
|
NM_000329.3(RPE65):c.996A>G (p.Lys332=)
|
rs2100818284
|
|
|
NM_000329.3(RPE65):c.998+11A>G
|
|
|
|
NM_000329.3(RPE65):c.998+12C>T
|
|
|
|
NM_000329.3(RPE65):c.998+13A>C
|
|
|
|
NM_000329.3(RPE65):c.998+15T>C
|
|
|
|
NM_000329.3(RPE65):c.998+16G>A
|
|
|
|
NM_000329.3(RPE65):c.998+1G>A
|
rs1645879495
|
|
|
NM_000329.3(RPE65):c.998+20A>G
|
|
|
|
NM_000329.3(RPE65):c.998G>A (p.Gly333Glu)
|
rs1173207597
|
|
|
NM_000329.3(RPE65):c.999-10_999-9del
|
rs2100817210
|
|
|
NM_000329.3(RPE65):c.999-12T>C
|
|
|
|
NM_000329.3(RPE65):c.999-17A>G
|
|
|
|
NM_000329.3(RPE65):c.999-2A>G
|
|
|
|
NM_000329.3(RPE65):c.999-3C>G
|
rs2100817189
|
|
|
NM_000329.3(RPE65):c.999-7T>C
|
|
|
|
NM_000329.3(RPE65):c.99G>A (p.Arg33=)
|
|
|
|
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
|
|
|
|
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
|
|
|
|
NM_000341.4(SLC3A1):c.1011+3A>G
|
rs1206425661
|
|
|
NM_000341.4(SLC3A1):c.1011G>A (p.Pro337=)
|
rs772810111
|
|
|
NM_000341.4(SLC3A1):c.1012-11G>A
|
|
|
|
NM_000341.4(SLC3A1):c.1012-16G>A
|
|
|
|
NM_000341.4(SLC3A1):c.1012-17C>T
|
|
|
|
NM_000341.4(SLC3A1):c.1012-3A>G
|
|
|
|
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
|
|
|
|
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)
|
rs567478582
|
|
|
NM_000341.4(SLC3A1):c.1094G>T (p.Arg365Leu)
|
rs567478582
|
|
|
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
|
|
|
|
NM_000341.4(SLC3A1):c.1136+1G>T
|
|
|
|
NM_000341.4(SLC3A1):c.1136+2T>C
|
|
|
|
NM_000341.4(SLC3A1):c.1136+3del
|
rs796262035
|
|
|
NM_000341.4(SLC3A1):c.1136+9C>A
|
|
|
|
NM_000341.4(SLC3A1):c.1137-18C>G
|
|
|
|
NM_000341.4(SLC3A1):c.1149T>C (p.Thr383=)
|
|
|
|
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
|
|
|
|
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=)
|
rs886056069
|
|
|
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
|
|
|
|
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
|
|
|
|
NM_000341.4(SLC3A1):c.1263G>T (p.Gly421=)
|
|
|
|
NM_000341.4(SLC3A1):c.1307dup (p.Glu437fs)
|
|
|
|
NM_000341.4(SLC3A1):c.1332+18C>T
|
|
|
|
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
|
|
|
|
NM_000341.4(SLC3A1):c.1365G>A (p.Ser455=)
|
|
|
|
NM_000341.4(SLC3A1):c.1365G>T (p.Ser455=)
|
|
|
|
NM_000341.4(SLC3A1):c.1366C>A (p.Arg456Ser)
|
rs139251285
|
|
|
NM_000341.4(SLC3A1):c.1374G>C (p.Gly458=)
|
|
|
|
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
|
|
|
|
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
|
|
|
|
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)
|
rs121912691
|
|
|
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg)
|
rs2104383996
|
|
|
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
|
|
|
|
NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)
|
|
|
|
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
|
|
|
|
NM_000341.4(SLC3A1):c.1440T>C (p.Tyr480=)
|
|
|
|
NM_000341.4(SLC3A1):c.1506C>A (p.Thr502=)
|
|
|
|
NM_000341.4(SLC3A1):c.1506C>T (p.Thr502=)
|
|
|
|
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
|
|
|
|
NM_000341.4(SLC3A1):c.1592C>G (p.Ser531Ter)
|
rs2104385536
|
|
|
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
|
|
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
|
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
|
|
|
|
NM_000341.4(SLC3A1):c.1618-11T>A
|
|
|
|
NM_000341.4(SLC3A1):c.1618-16T>C
|
|
|
|
NM_000341.4(SLC3A1):c.1618-5A>T
|
|
|
|
NM_000341.4(SLC3A1):c.163del (p.Gln55fs)
|
rs779932118
|
|
|
NM_000341.4(SLC3A1):c.1640C>A (p.Ser547Ter)
|
|
|
|
NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)
|
rs368796166
|
|
|
NM_000341.4(SLC3A1):c.1653A>G (p.Leu551=)
|
|
|
|
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
|
|
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
|
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
|
|
|
|
NM_000341.4(SLC3A1):c.1749_1750del (p.Glu585fs)
|
rs1672820246
|
|
|
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs)
|
rs775827496
|
|
|
NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)
|
|
|
|
NM_000341.4(SLC3A1):c.1812_1813del (p.Leu605fs)
|
|
|
|
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)
|
rs1672827519
|
|
|
NM_000341.4(SLC3A1):c.1836G>C (p.Ser612=)
|
rs376256364
|
|
|
NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)
|
rs748832562
|
|
|
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile)
|
rs698761
|
|
|
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
|
|
|
|
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
|
|
|
|
NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)
|
|
|
|
NM_000341.4(SLC3A1):c.1974C>A (p.Arg658=)
|
|
|
|
NM_000341.4(SLC3A1):c.1975C>T (p.Gln659Ter)
|
|
|
|
NM_000341.4(SLC3A1):c.2022T>C (p.Tyr674=)
|
|
|
|
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
|
|
|
|
NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)
|
|
|
|
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)
|
rs147701210
|
|
|
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
|
|
|
|
NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)
|
|
|
|
NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)
|
|
|
|
NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)
|
|
|
|
NM_000341.4(SLC3A1):c.363G>A (p.Gly121=)
|
rs1671332631
|
|
|
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
|
|
|
|
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
|
|
|
|
NM_000341.4(SLC3A1):c.430+2T>G
|
rs1558450604
|
|
|
NM_000341.4(SLC3A1):c.431-11T>G
|
|
|
|
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
|
|
|
|
NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)
|
|
|
|
NM_000341.4(SLC3A1):c.531T>A (p.Val177=)
|
|
|
|
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
|
|
|
|
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys)
|
rs140317484
|
|
|
NM_000341.4(SLC3A1):c.567G>C (p.Thr189=)
|
rs143195837
|
|
|
NM_000341.4(SLC3A1):c.610+14A>G
|
|
|
|
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
|
|
|
|
NM_000341.4(SLC3A1):c.620T>G (p.Leu207Ter)
|
|
|
|
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
|
|
|
|
NM_000341.4(SLC3A1):c.638C>G (p.Pro213Arg)
|
rs369603431
|
|
|
NM_000341.4(SLC3A1):c.63C>T (p.Asn21=)
|
rs1313555896
|
|
|
NM_000341.4(SLC3A1):c.670C>T (p.Gln224Ter)
|
rs542026439
|
|
|
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp)
|
rs758636942
|
|
|
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
|
|
|
|
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
|
|
|
|
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
|
|
|
|
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
|
|
|
|
NM_000341.4(SLC3A1):c.765+15G>A
|
|
|
|
NM_000341.4(SLC3A1):c.765G>C (p.Trp255Cys)
|
|
|
|
NM_000341.4(SLC3A1):c.766-4C>G
|
|
|
|
NM_000341.4(SLC3A1):c.774_775del (p.Tyr259fs)
|
|
|
|
NM_000341.4(SLC3A1):c.782_804del (p.Asn261fs)
|
rs747035900
|
|
|
NM_000341.4(SLC3A1):c.789T>C (p.Ser263=)
|
|
|
|
NM_000341.4(SLC3A1):c.801C>T (p.Asp267=)
|
|
|
|
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
|
|
|
|
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val)
|
rs933907652
|
|
|
NM_000341.4(SLC3A1):c.891+2T>C
|
rs2104342335
|
|
|
NM_000341.4(SLC3A1):c.892-13T>G
|
|
|
|
NM_000341.4(SLC3A1):c.892-17del
|
|
|
|
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
|
|
|
|
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
|
|
|
|
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
|
|
|
|
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp)
|
rs1671962088
|
|
|
NM_000353.3(TAT):c.1002C>T (p.Thr334=)
|
|
|
|
NM_000353.3(TAT):c.1017C>T (p.Tyr339=)
|
rs2044192494
|
|
|
NM_000353.3(TAT):c.1020C>T (p.His340=)
|
|
|
|
NM_000353.3(TAT):c.1038C>G (p.Leu346=)
|
|
|
|
NM_000353.3(TAT):c.1041+13C>T
|
|
|
|
NM_000353.3(TAT):c.1041+14C>T
|
|
|
|
NM_000353.3(TAT):c.1041+17C>T
|
|
|
|
NM_000353.3(TAT):c.1041+19C>G
|
|
|
|
NM_000353.3(TAT):c.1041+19C>T
|
|
|
|
NM_000353.3(TAT):c.1041+2T>C
|
rs113758103
|
|
|
NM_000353.3(TAT):c.1041+2T>G
|
|
|
|
NM_000353.3(TAT):c.1042-10C>T
|
rs2145230359
|
|
|
NM_000353.3(TAT):c.1042-12del
|
|
|
|
NM_000353.3(TAT):c.1042-15T>C
|
|
|
|
NM_000353.3(TAT):c.1042-16T>C
|
|
|
|
NM_000353.3(TAT):c.1042-2_1042del
|
|
|
|
NM_000353.3(TAT):c.1042-5del
|
rs2145230340
|
|
|
NM_000353.3(TAT):c.1042-6T>G
|
|
|
|
NM_000353.3(TAT):c.1042-9T>G
|
rs2145230358
|
|
|
NM_000353.3(TAT):c.1047T>C (p.Asn349=)
|
|
|
|
NM_000353.3(TAT):c.1047del (p.Asn349fs)
|
rs1555537673
|
|
|
NM_000353.3(TAT):c.1062T>C (p.Tyr354=)
|
rs2145230300
|
|
|
NM_000353.3(TAT):c.1065G>A (p.Gly355=)
|
rs2145230298
|
|
|
NM_000353.3(TAT):c.1068G>A (p.Ala356=)
|
rs202010343
|
|
|
NM_000353.3(TAT):c.1068G>T (p.Ala356=)
|
rs202010343
|
|
|
NM_000353.3(TAT):c.1069T>C (p.Leu357=)
|
rs2145230289
|
|
|
NM_000353.3(TAT):c.1098C>A (p.Val366=)
|
|
|
|
NM_000353.3(TAT):c.1098C>G (p.Val366=)
|
|
|
|
NM_000353.3(TAT):c.1098C>T (p.Val366=)
|
rs1019496970
|
|
|
NM_000353.3(TAT):c.1100G>A (p.Arg367His)
|
|
|
|
NM_000353.3(TAT):c.1113T>G (p.Ala371=)
|
rs2145230234
|
|
|
NM_000353.3(TAT):c.1119C>T (p.Tyr373=)
|
rs2044188170
|
|
|
NM_000353.3(TAT):c.1122C>T (p.Leu374=)
|
|
|
|
NM_000353.3(TAT):c.1125+10T>A
|
|
|
|
NM_000353.3(TAT):c.1125+11G>A
|
|
|
|
NM_000353.3(TAT):c.1125+15G>A
|
|
|
|
NM_000353.3(TAT):c.1125+15_1125+17del
|
|
|
|
NM_000353.3(TAT):c.1125+16G>A
|
|
|
|
NM_000353.3(TAT):c.1125+1del
|
|
|
|
NM_000353.3(TAT):c.1125+4A>G
|
|
|
|
NM_000353.3(TAT):c.1125+8T>C
|
rs2145230218
|
|
|
NM_000353.3(TAT):c.1125+9G>A
|
rs2145230217
|
|
|
NM_000353.3(TAT):c.1126-10G>A
|
rs1283939487
|
|
|
NM_000353.3(TAT):c.1126-15C>T
|
|
|
|
NM_000353.3(TAT):c.1126-17C>T
|
|
|
|
NM_000353.3(TAT):c.1126-6G>T
|
rs2044181609
|
|
|
NM_000353.3(TAT):c.1126-8T>C
|
|
|
|
NM_000353.3(TAT):c.1131A>C (p.Gly377=)
|
rs1401197763
|
|
|
NM_000353.3(TAT):c.1139T>C (p.Met380Thr)
|
|
|
|
NM_000353.3(TAT):c.1143A>G (p.Glu381=)
|
|
|
|
NM_000353.3(TAT):c.1152A>C (p.Pro384=)
|
rs764717482
|
|
|
NM_000353.3(TAT):c.1152A>G (p.Pro384=)
|
rs764717482
|
|
|
NM_000353.3(TAT):c.1155A>G (p.Glu385=)
|
rs1218085116
|
|
|
NM_000353.3(TAT):c.1170G>T (p.Val390=)
|
rs2145229327
|
|
|
NM_000353.3(TAT):c.1185G>A (p.Arg395=)
|
|
|
|
NM_000353.3(TAT):c.1188_1191del (p.Val397fs)
|
|
|
|
NM_000353.3(TAT):c.1203T>G (p.Ser401=)
|
rs2145229287
|
|
|
NM_000353.3(TAT):c.1206C>T (p.Val402=)
|
rs2145229284
|
|
|
NM_000353.3(TAT):c.1209C>T (p.His403=)
|
rs2145229277
|
|
|
NM_000353.3(TAT):c.1221A>G (p.Ala407=)
|
|
|
|
NM_000353.3(TAT):c.1224+11G>T
|
|
|
|
NM_000353.3(TAT):c.1224+8C>T
|
|
|
|
NM_000353.3(TAT):c.1224+9_1224+10del
|
rs2145229246
|
|
|
NM_000353.3(TAT):c.1224G>T (p.Thr408=)
|
|
|
|
NM_000353.3(TAT):c.1225-10C>G
|
|
|
|
NM_000353.3(TAT):c.1225-12T>C
|
|
|
|
NM_000353.3(TAT):c.1225-15C>T
|
|
|
|
NM_000353.3(TAT):c.1233G>A (p.Glu411=)
|
rs775290589
|
|
|
NM_000353.3(TAT):c.1245C>T (p.Phe415=)
|
|
|
|
NM_000353.3(TAT):c.1248C>T (p.Ile416=)
|
rs1179266660
|
|
|
NM_000353.3(TAT):c.1263A>C (p.Thr421=)
|
rs753180999
|
|
|
NM_000353.3(TAT):c.1266C>T (p.Val422=)
|
|
|
|
NM_000353.3(TAT):c.1282C>T (p.Leu428=)
|
|
|
|
NM_000353.3(TAT):c.1293C>T (p.Cys431=)
|
rs2044177266
|
|
|
NM_000353.3(TAT):c.1299G>C (p.Arg433=)
|
rs765229505
|
|
|
NM_000353.3(TAT):c.1311C>T (p.Phe437=)
|
|
|
|
NM_000353.3(TAT):c.1329T>C (p.His443=)
|
rs529616700
|
|
|
NM_000353.3(TAT):c.1332T>C (p.Cys444=)
|
|
|
|
NM_000353.3(TAT):c.135C>A (p.Pro45=)
|
|
|
|
NM_000353.3(TAT):c.1364A>T (p.Ter455Leu)
|
|
|
|
NM_000353.3(TAT):c.147C>G (p.Ala49=)
|
rs370213921
|
|
|
NM_000353.3(TAT):c.159C>T (p.Phe53=)
|
rs748718875
|
|
|
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)
|
rs118203914
|
|
|
NM_000353.3(TAT):c.177dup (p.Val60fs)
|
rs1555538156
|
|
|
NM_000353.3(TAT):c.193G>A (p.Val65Met)
|
|
|
|
NM_000353.3(TAT):c.205C>T (p.Pro69Ser)
|
|
|
|
NM_000353.3(TAT):c.210C>T (p.Asn70=)
|
rs2145235930
|
|
|
NM_000353.3(TAT):c.216C>A (p.Thr72=)
|
rs759619191
|
|
|
NM_000353.3(TAT):c.216C>T (p.Thr72=)
|
|
|
|
NM_000353.3(TAT):c.226dup (p.Leu76fs)
|
rs746077579
|
|
|
NM_000353.3(TAT):c.235+10G>A
|
|
|
|
NM_000353.3(TAT):c.235+12A>G
|
|
|
|
NM_000353.3(TAT):c.235+14A>C
|
|
|
|
NM_000353.3(TAT):c.235+14A>G
|
|
|
|
NM_000353.3(TAT):c.235+18C>T
|
|
|
|
NM_000353.3(TAT):c.236-11C>T
|
|
|
|
NM_000353.3(TAT):c.236-14C>G
|
|
|
|
NM_000353.3(TAT):c.236-17T>C
|
|
|
|
NM_000353.3(TAT):c.236-19_236-18del
|
|
|
|
NM_000353.3(TAT):c.236-6A>G
|
|
|
|
NM_000353.3(TAT):c.236-6A>T
|
rs2145235741
|
|
|
NM_000353.3(TAT):c.236-9C>T
|
|
|
|
NM_000353.3(TAT):c.237G>A (p.Gly79=)
|
rs2145235734
|
|
|
NM_000353.3(TAT):c.240C>T (p.Asp80=)
|
|
|
|
NM_000353.3(TAT):c.246T>G (p.Thr82=)
|
|
|
|
NM_000353.3(TAT):c.249G>A (p.Val83=)
|
rs2145235720
|
|
|
NM_000353.3(TAT):c.258C>T (p.Asn86=)
|
rs2145235708
|
|
|
NM_000353.3(TAT):c.276A>G (p.Glu92=)
|
|
|
|
NM_000353.3(TAT):c.301C>G (p.Leu101Val)
|
|
|
|
NM_000353.3(TAT):c.308_309delinsAA (p.Ser103Ter)
|
rs2145235661
|
|
|
NM_000353.3(TAT):c.309G>C (p.Ser103=)
|
rs78302875
|
|
|
NM_000353.3(TAT):c.312C>G (p.Gly104=)
|
rs1597055707
|
|
|
NM_000353.3(TAT):c.318T>C (p.Tyr106=)
|
|
|
|
NM_000353.3(TAT):c.31A>G (p.Lys11Glu)
|
|
|
|
NM_000353.3(TAT):c.321T>C (p.Asn107=)
|
rs2145235638
|
|
|
NM_000353.3(TAT):c.327T>C (p.Tyr109=)
|
rs2145235630
|
|
|
NM_000353.3(TAT):c.330C>T (p.Ala110=)
|
|
|
|
NM_000353.3(TAT):c.340+13T>C
|
|
|
|
NM_000353.3(TAT):c.340+19T>A
|
|
|
|
NM_000353.3(TAT):c.340+20C>A
|
|
|
|
NM_000353.3(TAT):c.340+8C>T
|
|
|
|
NM_000353.3(TAT):c.341-11T>C
|
|
|
|
NM_000353.3(TAT):c.341-13T>C
|
|
|
|
NM_000353.3(TAT):c.341-16C>T
|
|
|
|
NM_000353.3(TAT):c.341-18T>C
|
|
|
|
NM_000353.3(TAT):c.341-8T>C
|
|
|
|
NM_000353.3(TAT):c.341-8T>G
|
|
|
|
NM_000353.3(TAT):c.342C>T (p.Gly114=)
|
|
|
|
NM_000353.3(TAT):c.345C>T (p.Phe115=)
|
|
|
|
NM_000353.3(TAT):c.348A>G (p.Leu116=)
|
rs1020645107
|
|
|
NM_000353.3(TAT):c.358del (p.Glu120fs)
|
|
|
|
NM_000353.3(TAT):c.363G>A (p.Glu121=)
|
|
|
|
NM_000353.3(TAT):c.375T>C (p.Tyr125=)
|
|
|
|
NM_000353.3(TAT):c.390G>A (p.Glu130=)
|
|
|
|
NM_000353.3(TAT):c.396_408+201del
|
|
|
|
NM_000353.3(TAT):c.408+16del
|
|
|
|
NM_000353.3(TAT):c.408+19A>G
|
|
|
|
NM_000353.3(TAT):c.408+20C>T
|
|
|
|
NM_000353.3(TAT):c.408+7_408+9dup
|
|
|
|
NM_000353.3(TAT):c.408+9T>C
|
rs2044217374
|
|
|
NM_000353.3(TAT):c.409-11T>G
|
|
|
|
NM_000353.3(TAT):c.409-17T>C
|
|
|
|
NM_000353.3(TAT):c.409-18C>G
|
|
|
|
NM_000353.3(TAT):c.409-4A>G
|
|
|
|
NM_000353.3(TAT):c.409-8C>G
|
|
|
|
NM_000353.3(TAT):c.429C>T (p.Gly143=)
|
|
|
|
NM_000353.3(TAT):c.441T>C (p.Ala147=)
|
rs1033713332
|
|
|
NM_000353.3(TAT):c.444T>C (p.Ile148=)
|
|
|
|
NM_000353.3(TAT):c.447C>T (p.Asp149=)
|
|
|
|
NM_000353.3(TAT):c.452G>A (p.Cys151Tyr)
|
rs1357257156
|
|
|
NM_000353.3(TAT):c.454T>C (p.Leu152=)
|
|
|
|
NM_000353.3(TAT):c.463T>C (p.Leu155=)
|
|
|
|
NM_000353.3(TAT):c.471C>T (p.Asn157=)
|
rs1266113476
|
|
|
NM_000353.3(TAT):c.474A>T (p.Pro158=)
|
|
|
|
NM_000353.3(TAT):c.483C>T (p.Asn161=)
|
rs1466419340
|
|
|
NM_000353.3(TAT):c.486C>T (p.Ile162=)
|
|
|
|
NM_000353.3(TAT):c.489G>T (p.Leu163=)
|
rs2145232992
|
|
|
NM_000353.3(TAT):c.48A>G (p.Ser16=)
|
|
|
|
NM_000353.3(TAT):c.492T>C (p.Val164=)
|
|
|
|
NM_000353.3(TAT):c.498A>G (p.Arg166=)
|
|
|
|
NM_000353.3(TAT):c.501T>A (p.Pro167=)
|
|
|
|
NM_000353.3(TAT):c.501T>C (p.Pro167=)
|
rs761320051
|
|
|
NM_000353.3(TAT):c.51T>C (p.Ile17=)
|
|
|
|
NM_000353.3(TAT):c.522T>G (p.Thr174=)
|
rs2145232971
|
|
|
NM_000353.3(TAT):c.525G>T (p.Leu175=)
|
rs1282159950
|
|
|
NM_000353.3(TAT):c.531G>A (p.Glu177=)
|
rs763295882
|
|
|
NM_000353.3(TAT):c.555C>G (p.Leu185=)
|
rs1380448846
|
|
|
NM_000353.3(TAT):c.556T>C (p.Tyr186His)
|
rs2145232912
|
|
|
NM_000353.3(TAT):c.558C>T (p.Tyr186=)
|
rs886052274
|
|
|
NM_000353.3(TAT):c.560A>G (p.Asn187Ser)
|
|
|
|
NM_000353.3(TAT):c.565T>C (p.Leu189=)
|
|
|
|
NM_000353.3(TAT):c.567+10T>C
|
|
|
|
NM_000353.3(TAT):c.567+19T>A
|
rs2145232886
|
|
|
NM_000353.3(TAT):c.567+19T>C
|
|
|
|
NM_000353.3(TAT):c.567+19_567+20delinsATTTTAATCATTTTTAATCATTTTAATCATTTTAATTTTTTAAATTAATCATTTAATTTAATCATTTAATTAAATTAATCATTTAATCATTTAATCATTTTAATTTCCA
|
rs2145232881
|
|
|
NM_000353.3(TAT):c.567+8A>G
|
rs2145232896
|
|
|
NM_000353.3(TAT):c.568-17C>T
|
|
|
|
NM_000353.3(TAT):c.568-2A>G
|
rs1555537871
|
|
|
NM_000353.3(TAT):c.568-7T>C
|
|
|
|
NM_000353.3(TAT):c.57C>T (p.Asp19=)
|
rs777582600
|
|
|
NM_000353.3(TAT):c.582G>A (p.Trp194Ter)
|
rs2145232689
|
|
|
NM_000353.3(TAT):c.594G>C (p.Leu198=)
|
rs2145232672
|
|
|
NM_000353.3(TAT):c.594G>T (p.Leu198=)
|
rs2145232672
|
|
|
NM_000353.3(TAT):c.597A>G (p.Lys199=)
|
rs2145232668
|
|
|
NM_000353.3(TAT):c.601C>T (p.Leu201=)
|
|
|
|
NM_000353.3(TAT):c.603G>A (p.Leu201=)
|
rs866913048
|
|
|
NM_000353.3(TAT):c.606A>G (p.Glu202=)
|
rs2145232646
|
|
|
NM_000353.3(TAT):c.60G>T (p.Val20=)
|
rs2145236098
|
|
|
NM_000353.3(TAT):c.648T>C (p.Asn216=)
|
rs2145232597
|
|
|
NM_000353.3(TAT):c.648del (p.Pro217fs)
|
|
|
|
NM_000353.3(TAT):c.663T>C (p.Cys221=)
|
rs2145232573
|
|
|
NM_000353.3(TAT):c.669A>C (p.Ser223=)
|
rs2145232565
|
|
|
NM_000353.3(TAT):c.669A>G (p.Ser223=)
|
|
|
|
NM_000353.3(TAT):c.66C>T (p.Val22=)
|
rs2145236094
|
|
|
NM_000353.3(TAT):c.687T>C (p.His229=)
|
rs1597054169
|
|
|
NM_000353.3(TAT):c.706+10G>A
|
rs2145232504
|
|
|
NM_000353.3(TAT):c.706+7C>T
|
|
|
|
NM_000353.3(TAT):c.707-14T>C
|
rs1336452724
|
|
|
NM_000353.3(TAT):c.707-15A>G
|
|
|
|
NM_000353.3(TAT):c.707-2A>G
|
rs1005382525
|
|
|
NM_000353.3(TAT):c.707-9T>A
|
|
|
|
NM_000353.3(TAT):c.707-9T>C
|
rs1251000492
|
|
|
NM_000353.3(TAT):c.714A>T (p.Ala238=)
|
rs2145232085
|
|
|
NM_000353.3(TAT):c.715C>A (p.Arg239=)
|
rs779258482
|
|
|
NM_000353.3(TAT):c.723T>C (p.Cys241=)
|
|
|
|
NM_000353.3(TAT):c.726C>T (p.Val242=)
|
rs2145232065
|
|
|
NM_000353.3(TAT):c.738T>C (p.Ala246=)
|
rs2145232048
|
|
|
NM_000353.3(TAT):c.73G>A (p.Gly25Ser)
|
|
|
|
NM_000353.3(TAT):c.742G>T (p.Glu248Ter)
|
|
|
|
NM_000353.3(TAT):c.74G>T (p.Gly25Val)
|
|
|
|
NM_000353.3(TAT):c.756C>T (p.Asp252=)
|
|
|
|
NM_000353.3(TAT):c.759+10G>A
|
|
|
|
NM_000353.3(TAT):c.759+13C>T
|
|
|
|
NM_000353.3(TAT):c.759+17A>T
|
|
|
|
NM_000353.3(TAT):c.759+19A>G
|
|
|
|
NM_000353.3(TAT):c.759+1G>A
|
rs2145232021
|
|
|
NM_000353.3(TAT):c.759+7C>T
|
rs2145232013
|
|
|
NM_000353.3(TAT):c.759+8T>G
|
rs761791218
|
|
|
NM_000353.3(TAT):c.75T>C (p.Gly25=)
|
|
|
|
NM_000353.3(TAT):c.760-11C>T
|
|
|
|
NM_000353.3(TAT):c.760-14G>A
|
|
|
|
NM_000353.3(TAT):c.760-14G>C
|
|
|
|
NM_000353.3(TAT):c.760-7T>C
|
|
|
|
NM_000353.3(TAT):c.769G>A (p.Asp257Asn)
|
|
|
|
NM_000353.3(TAT):c.783A>G (p.Glu261=)
|
|
|
|
NM_000353.3(TAT):c.795C>T (p.Thr265=)
|
rs2145231319
|
|
|
NM_000353.3(TAT):c.807T>C (p.Asp269=)
|
rs1275948022
|
|
|
NM_000353.3(TAT):c.810C>A (p.Val270=)
|
|
|
|
NM_000353.3(TAT):c.810C>T (p.Val270=)
|
|
|
|
NM_000353.3(TAT):c.813C>T (p.Pro271=)
|
rs2145231280
|
|
|
NM_000353.3(TAT):c.814del (p.Ile272fs)
|
rs2044197900
|
|
|
NM_000353.3(TAT):c.825T>A (p.Cys275Ter)
|
|
|
|
NM_000353.3(TAT):c.825del (p.Cys275fs)
|
rs2145231253
|
|
|
NM_000353.3(TAT):c.849G>A (p.Leu283=)
|
|
|
|
NM_000353.3(TAT):c.849G>T (p.Leu283=)
|
|
|
|
NM_000353.3(TAT):c.858C>A (p.Gly286=)
|
rs970559788
|
|
|
NM_000353.3(TAT):c.864G>A (p.Arg288=)
|
|
|
|
NM_000353.3(TAT):c.882T>C (p.Ile294=)
|
|
|
|
NM_000353.3(TAT):c.89del (p.Val30fs)
|
rs2145236067
|
|
|
NM_000353.3(TAT):c.912+12G>T
|
|
|
|
NM_000353.3(TAT):c.912+12_912+13insGGG
|
|
|
|
NM_000353.3(TAT):c.912+16A>C
|
|
|
|
NM_000353.3(TAT):c.912+20G>C
|
|
|
|
NM_000353.3(TAT):c.913-11del
|
|
|
|
NM_000353.3(TAT):c.913-15G>A
|
|
|
|
NM_000353.3(TAT):c.913-15G>C
|
|
|
|
NM_000353.3(TAT):c.915C>A (p.Ile305=)
|
|
|
|
NM_000353.3(TAT):c.921T>C (p.Asp307=)
|
rs200734333
|
|
|
NM_000353.3(TAT):c.93G>C (p.Pro31=)
|
rs757389308
|
|
|
NM_000353.3(TAT):c.93G>T (p.Pro31=)
|
rs757389308
|
|
|
NM_000353.3(TAT):c.943C>T (p.Arg315Cys)
|
|
|
|
NM_000353.3(TAT):c.944G>A (p.Arg315His)
|
|
|
|
NM_000353.3(TAT):c.945C>T (p.Arg315=)
|
rs2145230758
|
|
|
NM_000353.3(TAT):c.949T>C (p.Leu317=)
|
|
|
|
NM_000353.3(TAT):c.960T>C (p.Cys320=)
|
|
|
|
NM_000353.3(TAT):c.966del (p.Ile322fs)
|
rs2145230737
|
|
|
NM_000353.3(TAT):c.96A>C (p.Gly32=)
|
|
|
|
NM_000353.3(TAT):c.974G>T (p.Gly325Val)
|
|
|
|
NM_000353.3(TAT):c.979C>T (p.Leu327=)
|
|
|
|
NM_000353.3(TAT):c.993A>G (p.Leu331=)
|
|
|
|
NM_000353.3(TAT):c.993A>T (p.Leu331=)
|
|
|
|
NM_000353.3(TAT):c.997C>T (p.Arg333Cys)
|
|
|
|
NM_000353.3(TAT):c.9A>C (p.Pro3=)
|
|
|
|
NM_000353.3(TAT):c.9dup (p.Tyr4fs)
|
rs2145236177
|
|
|
NM_000360.4(TH):c.1008G>A (p.Val336=)
|
rs1450148544
|
|
|
NM_000360.4(TH):c.1010C>T (p.Pro337Leu)
|
rs2133692289
|
|
|
NM_000360.4(TH):c.1011C>T (p.Pro337=)
|
|
|
|
NM_000360.4(TH):c.1025G>T (p.Arg342Leu)
|
rs768713710
|
|
|
NM_000360.4(TH):c.1029C>T (p.Thr343=)
|
rs1590166863
|
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
|
NM_000360.4(TH):c.1032C>T (p.Phe344=)
|
rs763198914
|
|
|
NM_000360.4(TH):c.1035_1045del (p.Gln346fs)
|
rs1590166832
|
|
|
NM_000360.4(TH):c.1041C>T (p.Phe347=)
|
rs1318529339
|
|
|
NM_000360.4(TH):c.1044G>A (p.Ser348=)
|
|
|
|
NM_000360.4(TH):c.1044G>T (p.Ser348=)
|
|
|
|
NM_000360.4(TH):c.1047+13C>A
|
|
|
|
NM_000360.4(TH):c.1047+15C>T
|
|
|
|
NM_000360.4(TH):c.1047+17G>A
|
|
|
|
NM_000360.4(TH):c.1047+1G>T
|
|
|
|
NM_000360.4(TH):c.1047+3A>G
|
rs1564917483
|
|
|
NM_000360.4(TH):c.1047G>A (p.Gln349=)
|
|
|
|
NM_000360.4(TH):c.1048-13C>A
|
|
|
|
NM_000360.4(TH):c.1048-13C>T
|
|
|
|
NM_000360.4(TH):c.1048-16C>A
|
|
|
|
NM_000360.4(TH):c.1048-20T>C
|
|
|
|
NM_000360.4(TH):c.1048-20_1048-14dup
|
|
|
|
NM_000360.4(TH):c.1048-2A>G
|
rs2133691221
|
|
|
NM_000360.4(TH):c.1048-4A>G
|
rs2133691226
|
|
|
NM_000360.4(TH):c.1048-5C>T
|
|
|
|
NM_000360.4(TH):c.1048-8C>A
|
rs2133691242
|
|
|
NM_000360.4(TH):c.1057C>T (p.Leu353=)
|
|
|
|
NM_000360.4(TH):c.1062G>T (p.Ala354=)
|
rs775488051
|
|
|
NM_000360.4(TH):c.1068G>A (p.Leu356=)
|
|
|
|
NM_000360.4(TH):c.1068G>T (p.Leu356=)
|
|
|
|
NM_000360.4(TH):c.1069G>A (p.Gly357Arg)
|
rs886048114
|
|
|
NM_000360.4(TH):c.1071G>A (p.Gly357=)
|
|
|
|
NM_000360.4(TH):c.1071G>C (p.Gly357=)
|
rs900683141
|
|
|
NM_000360.4(TH):c.1072G>A (p.Ala358Thr)
|
|
|
|
NM_000360.4(TH):c.1077G>C (p.Ser359=)
|
rs759797905
|
|
|
NM_000360.4(TH):c.1077G>T (p.Ser359=)
|
|
|
|
NM_000360.4(TH):c.107G>T (p.Gly36Val)
|
|
|
|
NM_000360.4(TH):c.108G>T (p.Gly36=)
|
rs372002058
|
|
|
NM_000360.4(TH):c.1092G>A (p.Glu364=)
|
rs2133691065
|
|
|
NM_000360.4(TH):c.1096C>T (p.Leu366=)
|
|
|
|
NM_000360.4(TH):c.109C>T (p.Arg37Cys)
|
|
|
|
NM_000360.4(TH):c.1101C>A (p.Ser367=)
|
rs2133691038
|
|
|
NM_000360.4(TH):c.1104+10C>A
|
|
|
|
NM_000360.4(TH):c.1104+11C>G
|
|
|
|
NM_000360.4(TH):c.1104+15C>T
|
|
|
|
NM_000360.4(TH):c.1104+19G>T
|
|
|
|
NM_000360.4(TH):c.1104+3G>A
|
|
|
|
NM_000360.4(TH):c.1104+4G>A
|
|
|
|
NM_000360.4(TH):c.1104+4G>T
|
rs747560095
|
|
|
NM_000360.4(TH):c.1104+6T>C
|
|
|
|
NM_000360.4(TH):c.1104+9A>T
|
rs1590166246
|
|
|
NM_000360.4(TH):c.1105-11C>G
|
|
|
|
NM_000360.4(TH):c.1105-14C>G
|
|
|
|
NM_000360.4(TH):c.1105-17G>T
|
|
|
|
NM_000360.4(TH):c.1105-1G>T
|
rs2133690469
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
|
NM_000360.4(TH):c.1105-5C>T
|
rs535794692
|
|
|
NM_000360.4(TH):c.1105-6C>T
|
|
|
|
NM_000360.4(TH):c.1105-8C>T
|
|
|
|
NM_000360.4(TH):c.1116C>T (p.Phe372=)
|
|
|
|
NM_000360.4(TH):c.1118C>T (p.Thr373Met)
|
rs868563700
|
|
|
NM_000360.4(TH):c.1119G>A (p.Thr373=)
|
rs143405115
|
|
|
NM_000360.4(TH):c.1119G>C (p.Thr373=)
|
rs143405115
|
|
|
NM_000360.4(TH):c.111C>T (p.Arg37=)
|
rs2133700128
|
|
|
NM_000360.4(TH):c.1121T>C (p.Val374Ala)
|
rs1846072496
|
|
|
NM_000360.4(TH):c.1122_1123delinsTT (p.Glu375Ter)
|
rs2133690417
|
|
|
NM_000360.4(TH):c.1125del (p.Glu375fs)
|
rs2133690407
|
|
|
NM_000360.4(TH):c.1129G>A (p.Gly377Arg)
|
rs745551241
|
|
|
NM_000360.4(TH):c.1131G>A (p.Gly377=)
|
|
|
|
NM_000360.4(TH):c.1138A>T (p.Lys380Ter)
|
rs2133690361
|
|
|
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
|
|
|
|
NM_000360.4(TH):c.1149G>C (p.Gly383=)
|
rs758398302
|
|
|
NM_000360.4(TH):c.1152G>A (p.Glu384=)
|
|
|
|
NM_000360.4(TH):c.1155G>A (p.Val385=)
|
|
|
|
NM_000360.4(TH):c.115C>G (p.Gln39Glu)
|
rs886048115
|
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
|
NM_000360.4(TH):c.1170C>T (p.Ala390=)
|
rs199839852
|
|
|
NM_000360.4(TH):c.1171G>A (p.Gly391Arg)
|
rs1243080287
|
|
|
NM_000360.4(TH):c.1171G>C (p.Gly391Arg)
|
rs1243080287
|
|
|
NM_000360.4(TH):c.1174C>T (p.Leu392=)
|
rs2133690244
|
|
|
NM_000360.4(TH):c.1176_1180del (p.Ser394fs)
|
rs1554922593
|
|
|
NM_000360.4(TH):c.1182C>A (p.Ser394=)
|
|
|
|
NM_000360.4(TH):c.1182C>G (p.Ser394=)
|
rs1590165799
|
|
|
NM_000360.4(TH):c.1186T>C (p.Tyr396His)
|
|
|
|
NM_000360.4(TH):c.1188C>T (p.Tyr396=)
|
rs375428556
|
|
|
NM_000360.4(TH):c.1189G>C (p.Gly397Arg)
|
|
|
|
NM_000360.4(TH):c.1194G>A (p.Glu398=)
|
|
|
|
NM_000360.4(TH):c.11C>T (p.Pro4Leu)
|
|
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
|
NM_000360.4(TH):c.1200+5G>A
|
|
|
|
NM_000360.4(TH):c.1200+7G>T
|
rs1463979447
|
|
|
NM_000360.4(TH):c.1200+8T>A
|
rs371162830
|
|
|
NM_000360.4(TH):c.1200+8T>C
|
rs371162830
|
|
|
NM_000360.4(TH):c.1200+9C>G
|
rs11564717
|
|
|
NM_000360.4(TH):c.1201-10C>A
|
rs779826328
|
|
|
NM_000360.4(TH):c.1201-10C>G
|
rs779826328
|
|
|
NM_000360.4(TH):c.1201-10C>T
|
rs779826328
|
|
|
NM_000360.4(TH):c.1201-1G>A
|
rs2133689319
|
|
|
NM_000360.4(TH):c.1201-2_1201-1delinsCC
|
rs2133689324
|
|
|
NM_000360.4(TH):c.1201-4C>A
|
|
|
|
NM_000360.4(TH):c.1201-4C>G
|
|
|
|
NM_000360.4(TH):c.1201-8C>T
|
rs751808349
|
|
|
NM_000360.4(TH):c.1201-8_1201-6del
|
rs2133689342
|
|
|
NM_000360.4(TH):c.1203C>T (p.His401=)
|
rs764678799
|
|
|
NM_000360.4(TH):c.1209G>C (p.Leu403=)
|
|
|
|
NM_000360.4(TH):c.120C>A (p.Ser40Arg)
|
rs766048900
|
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
|
NM_000360.4(TH):c.1210_1213del (p.Ser404fs)
|
rs2133689285
|
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
|
NM_000360.4(TH):c.1218G>A (p.Glu406=)
|
rs2133689255
|
|
|
NM_000360.4(TH):c.1219C>G (p.Pro407Ala)
|
|
|
|
NM_000360.4(TH):c.1224G>A (p.Glu408=)
|
rs1037422057
|
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
|
NM_000360.4(TH):c.1229G>C (p.Arg410Pro)
|
|
|
|
NM_000360.4(TH):c.1229G>T (p.Arg410Leu)
|
rs367874223
|
|
|
NM_000360.4(TH):c.1236C>A (p.Phe412Leu)
|
|
|
|
NM_000360.4(TH):c.1239C>T (p.Asp413=)
|
rs2133689129
|
|
|
NM_000360.4(TH):c.123C>T (p.Leu41=)
|
rs2133700103
|
|
|
NM_000360.4(TH):c.1240C>T (p.Pro414Ser)
|
|
|
|
NM_000360.4(TH):c.1242T>C (p.Pro414=)
|
|
|
|
NM_000360.4(TH):c.1245G>A (p.Glu415=)
|
|
|
|
NM_000360.4(TH):c.1252dup (p.Ala418fs)
|
|
|
|
NM_000360.4(TH):c.1260G>A (p.Gln420=)
|
|
|
|
NM_000360.4(TH):c.1262C>T (p.Pro421Leu)
|
rs752022049
|
|
|
NM_000360.4(TH):c.126C>T (p.Ile42=)
|
rs755664117
|
|
|
NM_000360.4(TH):c.1271A>C (p.Asp424Ala)
|
rs1590165136
|
|
|
NM_000360.4(TH):c.1272C>T (p.Asp424=)
|
rs2133689008
|
|
|
NM_000360.4(TH):c.1278G>T (p.Thr426=)
|
|
|
|
NM_000360.4(TH):c.1282C>T (p.Gln428Ter)
|
rs786204540
|
|
|
NM_000360.4(TH):c.1285T>C (p.Ser429Pro)
|
|
|
|
NM_000360.4(TH):c.1287A>C (p.Ser429=)
|
rs1590165106
|
|
|
NM_000360.4(TH):c.1288G>A (p.Val430Ile)
|
rs2133688950
|
|
|
NM_000360.4(TH):c.1290C>G (p.Val430=)
|
rs367962981
|
|
|
NM_000360.4(TH):c.1296C>A (p.Phe432Leu)
|
rs760210103
|
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
|
NM_000360.4(TH):c.12dup (p.Asp5fs)
|
rs1057516716
|
|
|
NM_000360.4(TH):c.1308C>T (p.Ser436=)
|
rs2133688882
|
|
|
NM_000360.4(TH):c.1318G>A (p.Ala440Thr)
|
|
|
|
NM_000360.4(TH):c.1318G>T (p.Ala440Ser)
|
rs374465917
|
|
|
NM_000360.4(TH):c.1324G>C (p.Asp442His)
|
rs775587609
|
|
|
NM_000360.4(TH):c.1326C>T (p.Asp442=)
|
rs1262220896
|
|
|
NM_000360.4(TH):c.1330C>T (p.Leu444Phe)
|
|
|
|
NM_000360.4(TH):c.1334+10G>A
|
rs2133688753
|
|
|
NM_000360.4(TH):c.1334+10G>C
|
|
|
|
NM_000360.4(TH):c.1334+11C>A
|
|
|
|
NM_000360.4(TH):c.1334+16A>C
|
|
|
|
NM_000360.4(TH):c.1334+20C>A
|
|
|
|
NM_000360.4(TH):c.1334+7T>C
|
|
|
|
NM_000360.4(TH):c.1334+9G>C
|
rs758713265
|
|
|
NM_000360.4(TH):c.1335-11C>A
|
rs756737351
|
|
|
NM_000360.4(TH):c.1335-11C>G
|
|
|
|
NM_000360.4(TH):c.1335-13C>T
|
rs1846025725
|
|
|
NM_000360.4(TH):c.1335-15C>T
|
|
|
|
NM_000360.4(TH):c.1335-18T>A
|
|
|
|
NM_000360.4(TH):c.1335-19C>G
|
|
|
|
NM_000360.4(TH):c.1335-6C>T
|
|
|
|
NM_000360.4(TH):c.1341T>A (p.Tyr447Ter)
|
|
|
|
NM_000360.4(TH):c.1341T>C (p.Tyr447=)
|
rs1442860813
|
|
|
NM_000360.4(TH):c.1344C>T (p.Ala448=)
|
|
|
|
NM_000360.4(TH):c.1347A>C (p.Ser449=)
|
rs2133686969
|
|
|
NM_000360.4(TH):c.1348C>A (p.Arg450Ser)
|
|
|
|
NM_000360.4(TH):c.1350C>A (p.Arg450=)
|
rs1590164188
|
|
|
NM_000360.4(TH):c.1353C>T (p.Ile451=)
|
|
|
|
NM_000360.4(TH):c.1354C>T (p.Gln452Ter)
|
rs2133686936
|
|
|
NM_000360.4(TH):c.1357C>T (p.Arg453Cys)
|
rs755922032
|
|
|
NM_000360.4(TH):c.1359C>T (p.Arg453=)
|
rs2133686922
|
|
|
NM_000360.4(TH):c.135C>T (p.Ala45=)
|
rs1488262765
|
|
|
NM_000360.4(TH):c.1367C>G (p.Ser456Cys)
|
|
|
|
NM_000360.4(TH):c.1369G>A (p.Val457Met)
|
|
|
|
NM_000360.4(TH):c.1378G>A (p.Asp460Asn)
|
|
|
|
NM_000360.4(TH):c.1383G>C (p.Pro461=)
|
|
|
|
NM_000360.4(TH):c.1389G>T (p.Thr463=)
|
rs370029424
|
|
|
NM_000360.4(TH):c.138C>A (p.Arg46=)
|
|
|
|
NM_000360.4(TH):c.138dup (p.Lys47fs)
|
|
|
|
NM_000360.4(TH):c.1390C>G (p.Leu464Val)
|
|
|
|
NM_000360.4(TH):c.1390C>T (p.Leu464=)
|
rs777421313
|
|
|
NM_000360.4(TH):c.1401C>A (p.Asp467Glu)
|
rs3842724
|
|
|
NM_000360.4(TH):c.1404G>C (p.Val468=)
|
rs2133686744
|
|
|
NM_000360.4(TH):c.1407G>A (p.Leu469=)
|
|
|
|
NM_000360.4(TH):c.1410C>T (p.Asp470=)
|
rs1846020769
|
|
|
NM_000360.4(TH):c.1416C>T (p.Pro472=)
|
|
|
|
NM_000360.4(TH):c.1428G>A (p.Arg476=)
|
rs2133686644
|
|
|
NM_000360.4(TH):c.1428G>C (p.Arg476=)
|
|
|
|
NM_000360.4(TH):c.1435C>T (p.Leu479=)
|
rs2133686613
|
|
|
NM_000360.4(TH):c.1437G>A (p.Leu479=)
|
|
|
|
NM_000360.4(TH):c.1440G>T (p.Glu480Asp)
|
rs1405705464
|
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
|
NM_000360.4(TH):c.1442G>T (p.Gly481Val)
|
rs564949885
|
|
|
NM_000360.4(TH):c.1445T>C (p.Val482Ala)
|
|
|
|
NM_000360.4(TH):c.1449G>A (p.Gln483=)
|
rs1846018715
|
|
|
NM_000360.4(TH):c.1450G>C (p.Asp484His)
|
|
|
|
NM_000360.4(TH):c.1453G>A (p.Glu485Lys)
|
|
|
|
NM_000360.4(TH):c.1458G>A (p.Leu486=)
|
|
|
|
NM_000360.4(TH):c.1459G>C (p.Asp487His)
|
rs2133686524
|
|
|
NM_000360.4(TH):c.1460A>G (p.Asp487Gly)
|
|
|
|
NM_000360.4(TH):c.1461C>T (p.Asp487=)
|
rs2133686512
|
|
|
NM_000360.4(TH):c.146G>A (p.Arg49Gln)
|
|
|
|
NM_000360.4(TH):c.1473T>C (p.His491=)
|
rs2133686471
|
|
|
NM_000360.4(TH):c.1476G>T (p.Ala492=)
|
|
|
|
NM_000360.4(TH):c.1479G>A (p.Leu493=)
|
|
|
|
NM_000360.4(TH):c.1490G>T (p.Gly497Val)
|
|
|
|
NM_000360.4(TH):c.151G>A (p.Ala51Thr)
|
|
|
|
NM_000360.4(TH):c.152C>T (p.Ala51Val)
|
|
|
|
NM_000360.4(TH):c.156G>A (p.Ala52=)
|
rs769897682
|
|
|
NM_000360.4(TH):c.156G>T (p.Ala52=)
|
rs769897682
|
|
|
NM_000360.4(TH):c.165A>G (p.Ala55=)
|
rs2133699994
|
|
|
NM_000360.4(TH):c.16G>T (p.Ala6Ser)
|
|
|
|
NM_000360.4(TH):c.174T>A (p.Ala58=)
|
rs2133699946
|
|
|
NM_000360.4(TH):c.177A>T (p.Ala59=)
|
|
|
|
NM_000360.4(TH):c.183C>T (p.Pro61=)
|
|
|
|
NM_000360.4(TH):c.18C>A (p.Ala6=)
|
|
|
|
NM_000360.4(TH):c.198C>T (p.Asp66=)
|
|
|
|
NM_000360.4(TH):c.200C>T (p.Pro67Leu)
|
rs752445432
|
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
|
NM_000360.4(TH):c.205G>A (p.Glu69Lys)
|
|
|
|
NM_000360.4(TH):c.207G>A (p.Glu69=)
|
rs2133699832
|
|
|
NM_000360.4(TH):c.217T>C (p.Phe73Leu)
|
rs577028504
|
|
|
NM_000360.4(TH):c.21C>A (p.Thr7=)
|
rs2133704280
|
|
|
NM_000360.4(TH):c.222G>C (p.Glu74Asp)
|
|
|
|
NM_000360.4(TH):c.225G>T (p.Glu75Asp)
|
|
|
|
NM_000360.4(TH):c.231G>A (p.Glu77=)
|
rs2133699752
|
|
|
NM_000360.4(TH):c.237G>A (p.Lys79=)
|
|
|
|
NM_000360.4(TH):c.245T>G (p.Leu82Arg)
|
rs990443240
|
|
|
NM_000360.4(TH):c.255C>T (p.Leu85=)
|
rs2133699675
|
|
|
NM_000360.4(TH):c.259T>C (p.Ser87Pro)
|
rs1846199834
|
|
|
NM_000360.4(TH):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_000360.4(TH):c.263del (p.Pro88fs)
|
|
|
|
NM_000360.4(TH):c.279C>G (p.Pro93=)
|
|
|
|
NM_000360.4(TH):c.281C>A (p.Ser94Ter)
|
rs760640869
|
|
|
NM_000360.4(TH):c.281C>T (p.Ser94Leu)
|
|
|
|
NM_000360.4(TH):c.282G>A (p.Ser94=)
|
rs75348531
|
|
|
NM_000360.4(TH):c.282G>C (p.Ser94=)
|
rs75348531
|
|
|
NM_000360.4(TH):c.282G>T (p.Ser94=)
|
|
|
|
NM_000360.4(TH):c.284C>A (p.Ala95Glu)
|
rs769126179
|
|
|
NM_000360.4(TH):c.284C>G (p.Ala95Gly)
|
rs769126179
|
|
|
NM_000360.4(TH):c.284C>T (p.Ala95Val)
|
rs769126179
|
|
|
NM_000360.4(TH):c.286_312+18dup
|
rs1388275002
|
|
|
NM_000360.4(TH):c.293G>A (p.Arg98Gln)
|
|
|
|
NM_000360.4(TH):c.293G>C (p.Arg98Pro)
|
rs375214998
|
|
|
NM_000360.4(TH):c.298G>A (p.Val100Met)
|
rs1353856728
|
|
|
NM_000360.4(TH):c.298G>C (p.Val100Leu)
|
|
|
|
NM_000360.4(TH):c.302A>G (p.Lys101Arg)
|
rs1284709971
|
|
|
NM_000360.4(TH):c.312+10T>C
|
rs2133699465
|
|
|
NM_000360.4(TH):c.312+11G>T
|
|
|
|
NM_000360.4(TH):c.312+12G>A
|
|
|
|
NM_000360.4(TH):c.312+13C>A
|
|
|
|
NM_000360.4(TH):c.312+18G>A
|
|
|
|
NM_000360.4(TH):c.312+19T>G
|
|
|
|
NM_000360.4(TH):c.312+1G>A
|
rs1554923802
|
|
|
NM_000360.4(TH):c.312+6C>T
|
rs753670938
|
|
|
NM_000360.4(TH):c.313-10G>A
|
|
|
|
NM_000360.4(TH):c.313-12T>C
|
|
|
|
NM_000360.4(TH):c.313-13T>C
|
|
|
|
NM_000360.4(TH):c.313-18C>G
|
|
|
|
NM_000360.4(TH):c.313-8T>C
|
|
|
|
NM_000360.4(TH):c.314C>T (p.Thr105Met)
|
|
|
|
NM_000360.4(TH):c.318T>C (p.Phe106=)
|
|
|
|
NM_000360.4(TH):c.31G>A (p.Ala11Thr)
|
|
|
|
NM_000360.4(TH):c.32C>A (p.Ala11Asp)
|
rs933425557
|
|
|
NM_000360.4(TH):c.32C>G (p.Ala11Gly)
|
rs933425557
|
|
|
NM_000360.4(TH):c.333C>T (p.His111=)
|
rs2133697797
|
|
|
NM_000360.4(TH):c.337C>G (p.Leu113Val)
|
rs1846169186
|
|
|
NM_000360.4(TH):c.339A>G (p.Leu113=)
|
|
|
|
NM_000360.4(TH):c.344C>T (p.Thr115Ile)
|
rs756013579
|
|
|
NM_000360.4(TH):c.345C>G (p.Thr115=)
|
rs1590169970
|
|
|
NM_000360.4(TH):c.346C>A (p.Arg116=)
|
rs571368528
|
|
|
NM_000360.4(TH):c.347G>A (p.Arg116Gln)
|
|
|
|
NM_000360.4(TH):c.347G>C (p.Arg116Pro)
|
|
|
|
NM_000360.4(TH):c.348G>A (p.Arg116=)
|
rs1590169952
|
|
|
NM_000360.4(TH):c.352G>T (p.Ala118Ser)
|
|
|
|
NM_000360.4(TH):c.357G>A (p.Gln119=)
|
|
|
|
NM_000360.4(TH):c.359G>A (p.Arg120Lys)
|
|
|
|
NM_000360.4(TH):c.364C>A (p.Arg122=)
|
rs771610752
|
|
|
NM_000360.4(TH):c.369T>G (p.Ala123=)
|
rs2133697665
|
|
|
NM_000360.4(TH):c.374_387dup (p.Tyr130fs)
|
rs2133697599
|
|
|
NM_000360.4(TH):c.375C>G (p.Gly125=)
|
rs2133697637
|
|
|
NM_000360.4(TH):c.378C>A (p.Pro126=)
|
rs779782825
|
|
|
NM_000360.4(TH):c.382C>T (p.Leu128=)
|
rs2133697620
|
|
|
NM_000360.4(TH):c.384G>A (p.Leu128=)
|
rs2133697614
|
|
|
NM_000360.4(TH):c.385G>A (p.Glu129Lys)
|
rs1178215140
|
|
|
NM_000360.4(TH):c.390C>T (p.Tyr130=)
|
|
|
|
NM_000360.4(TH):c.394G>C (p.Val132Leu)
|
rs751702426
|
|
|
NM_000360.4(TH):c.397C>T (p.Arg133Cys)
|
|
|
|
NM_000360.4(TH):c.398G>T (p.Arg133Leu)
|
rs376881948
|
|
|
NM_000360.4(TH):c.399C>T (p.Arg133=)
|
|
|
|
NM_000360.4(TH):c.39C>T (p.Gly13=)
|
|
|
|
NM_000360.4(TH):c.401_412del (p.Leu134_Arg137del)
|
rs1846165944
|
|
|
NM_000360.4(TH):c.403G>A (p.Glu135Lys)
|
|
|
|
NM_000360.4(TH):c.408G>A (p.Val136=)
|
rs1846166191
|
|
|
NM_000360.4(TH):c.409C>T (p.Arg137Cys)
|
|
|
|
NM_000360.4(TH):c.412C>T (p.Arg138Ter)
|
|
|
|
NM_000360.4(TH):c.413G>A (p.Arg138Gln)
|
|
|
|
NM_000360.4(TH):c.414A>G (p.Arg138=)
|
rs528105731
|
|
|
NM_000360.4(TH):c.417G>A (p.Gly139=)
|
rs1846165575
|
|
|
NM_000360.4(TH):c.417G>C (p.Gly139=)
|
|
|
|
NM_000360.4(TH):c.418G>A (p.Asp140Asn)
|
|
|
|
NM_000360.4(TH):c.423G>C (p.Leu141=)
|
|
|
|
NM_000360.4(TH):c.42C>G (p.Phe14Leu)
|
|
|
|
NM_000360.4(TH):c.432G>C (p.Leu144=)
|
rs2133697405
|
|
|
NM_000360.4(TH):c.432G>T (p.Leu144=)
|
rs2133697405
|
|
|
NM_000360.4(TH):c.443T>C (p.Val148Ala)
|
rs942789428
|
|
|
NM_000360.4(TH):c.446G>A (p.Arg149His)
|
|
|
|
NM_000360.4(TH):c.447C>T (p.Arg149=)
|
|
|
|
NM_000360.4(TH):c.44G>A (p.Arg15His)
|
rs199648386
|
|
|
NM_000360.4(TH):c.44G>T (p.Arg15Leu)
|
|
|
|
NM_000360.4(TH):c.45C>T (p.Arg15=)
|
|
|
|
NM_000360.4(TH):c.463G>A (p.Val155Met)
|
|
|
|
NM_000360.4(TH):c.467G>A (p.Arg156His)
|
|
|
|
NM_000360.4(TH):c.46A>G (p.Arg16Gly)
|
|
|
|
NM_000360.4(TH):c.473C>T (p.Pro158Leu)
|
|
|
|
NM_000360.4(TH):c.475G>A (p.Ala159Thr)
|
|
|
|
NM_000360.4(TH):c.476C>T (p.Ala159Val)
|
|
|
|
NM_000360.4(TH):c.479G>A (p.Gly160Glu)
|
rs777823354
|
|
|
NM_000360.4(TH):c.480G>A (p.Gly160=)
|
|
|
|
NM_000360.4(TH):c.487+18C>G
|
|
|
|
NM_000360.4(TH):c.487+1G>C
|
rs1554923513
|
|
|
NM_000360.4(TH):c.487+2T>C
|
rs1057517003
|
|
|
NM_000360.4(TH):c.487+7C>T
|
|
|
|
NM_000360.4(TH):c.487+8G>T
|
rs749511812
|
|
|
NM_000360.4(TH):c.487+9G>T
|
rs2133697188
|
|
|
NM_000360.4(TH):c.488-11C>T
|
|
|
|
NM_000360.4(TH):c.488-14C>T
|
|
|
|
NM_000360.4(TH):c.488-17C>G
|
rs918432885
|
|
|
NM_000360.4(TH):c.488-1G>A
|
rs1285458218
|
|
|
NM_000360.4(TH):c.488-1G>T
|
rs1285458218
|
|
|
NM_000360.4(TH):c.488-5T>C
|
rs1846153668
|
|
|
NM_000360.4(TH):c.489C>A (p.Val163=)
|
|
|
|
NM_000360.4(TH):c.494G>A (p.Trp165Ter)
|
|
|
|
NM_000360.4(TH):c.503G>A (p.Arg168Lys)
|
|
|
|
NM_000360.4(TH):c.507del (p.Val170fs)
|
|
|
|
NM_000360.4(TH):c.50C>A (p.Ala17Asp)
|
rs2133704171
|
|
|
NM_000360.4(TH):c.510G>T (p.Val170=)
|
rs2133696498
|
|
|
NM_000360.4(TH):c.513A>G (p.Ser171=)
|
rs773094935
|
|
|
NM_000360.4(TH):c.519G>A (p.Leu173=)
|
rs2133696466
|
|
|
NM_000360.4(TH):c.51C>G (p.Ala17=)
|
rs199645400
|
|
|
NM_000360.4(TH):c.51del (p.Val18fs)
|
|
|
|
NM_000360.4(TH):c.522C>T (p.Asp174=)
|
|
|
|
NM_000360.4(TH):c.525G>A (p.Lys175=)
|
|
|
|
NM_000360.4(TH):c.535C>T (p.Leu179=)
|
rs547467882
|
|
|
NM_000360.4(TH):c.543C>A (p.Thr181=)
|
rs2133696399
|
|
|
NM_000360.4(TH):c.545_546del (p.Lys182fs)
|
|
|
|
NM_000360.4(TH):c.546G>A (p.Lys182=)
|
rs2133696386
|
|
|
NM_000360.4(TH):c.549C>G (p.Phe183Leu)
|
|
|
|
NM_000360.4(TH):c.550G>C (p.Asp184His)
|
|
|
|
NM_000360.4(TH):c.559C>T (p.Leu187=)
|
rs2133696352
|
|
|
NM_000360.4(TH):c.564C>T (p.Asp188=)
|
|
|
|
NM_000360.4(TH):c.575C>T (p.Pro192Leu)
|
rs760346235
|
|
|
NM_000360.4(TH):c.576+11C>G
|
|
|
|
NM_000360.4(TH):c.576+16dup
|
rs1238963534
|
|
|
NM_000360.4(TH):c.576+18C>T
|
|
|
|
NM_000360.4(TH):c.576+2T>G
|
rs2133696288
|
|
|
NM_000360.4(TH):c.576+6T>C
|
|
|
|
NM_000360.4(TH):c.576+7G>C
|
|
|
|
NM_000360.4(TH):c.576+8G>A
|
rs372753775
|
|
|
NM_000360.4(TH):c.576+8G>T
|
rs372753775
|
|
|
NM_000360.4(TH):c.577-10C>G
|
|
|
|
NM_000360.4(TH):c.577-10C>T
|
rs2133695865
|
|
|
NM_000360.4(TH):c.577-12C>T
|
|
|
|
NM_000360.4(TH):c.577-13C>T
|
rs1846146910
|
|
|
NM_000360.4(TH):c.577-15C>T
|
|
|
|
NM_000360.4(TH):c.577-19G>A
|
|
|
|
NM_000360.4(TH):c.577-22_577-5del
|
|
|
|
NM_000360.4(TH):c.577-2A>G
|
|
|
|
NM_000360.4(TH):c.577-2A>T
|
|
|
|
NM_000360.4(TH):c.577-3C>T
|
|
|
|
NM_000360.4(TH):c.577-6C>T
|
|
|
|
NM_000360.4(TH):c.577-7C>T
|
rs2133695862
|
|
|
NM_000360.4(TH):c.577G>A (p.Gly193Ser)
|
rs2133695838
|
|
|
NM_000360.4(TH):c.579C>A (p.Gly193=)
|
rs147852210
|
|
|
NM_000360.4(TH):c.57T>C (p.Ser19=)
|
|
|
|
NM_000360.4(TH):c.583del (p.Ser195fs)
|
|
|
|
NM_000360.4(TH):c.584C>A (p.Ser195Ter)
|
rs372409517
|
|
|
NM_000360.4(TH):c.585G>C (p.Ser195=)
|
rs376615793
|
|
|
NM_000360.4(TH):c.58G>A (p.Glu20Lys)
|
rs2133704152
|
|
|
NM_000360.4(TH):c.592del (p.Val198fs)
|
|
|
|
NM_000360.4(TH):c.597C>T (p.Tyr199=)
|
|
|
|
NM_000360.4(TH):c.601C>T (p.Gln201Ter)
|
rs1057517423
|
|
|
NM_000360.4(TH):c.609G>A (p.Arg203=)
|
|
|
|
NM_000360.4(TH):c.613C>T (p.Leu205=)
|
rs1846144092
|
|
|
NM_000360.4(TH):c.627C>T (p.Ile209=)
|
rs202149985
|
|
|
NM_000360.4(TH):c.628G>T (p.Ala210Ser)
|
rs1260455415
|
|
|
NM_000360.4(TH):c.630C>T (p.Ala210=)
|
rs2133695646
|
|
|
NM_000360.4(TH):c.633C>A (p.Phe211Leu)
|
|
|
|
NM_000360.4(TH):c.635A>G (p.Gln212Arg)
|
rs1002471580
|
|
|
NM_000360.4(TH):c.63G>A (p.Leu21=)
|
rs2133704145
|
|
|
NM_000360.4(TH):c.642G>A (p.Arg214=)
|
rs139579396
|
|
|
NM_000360.4(TH):c.644+15C>A
|
rs191712999
|
|
|
NM_000360.4(TH):c.644+15C>G
|
rs191712999
|
|
|
NM_000360.4(TH):c.644+15C>T
|
rs191712999
|
|
|
NM_000360.4(TH):c.644+16G>A
|
|
|
|
NM_000360.4(TH):c.644+8G>T
|
|
|
|
NM_000360.4(TH):c.644+8dup
|
|
|
|
NM_000360.4(TH):c.644+9C>T
|
rs766524314
|
|
|
NM_000360.4(TH):c.645-11C>T
|
|
|
|
NM_000360.4(TH):c.645-15T>C
|
|
|
|
NM_000360.4(TH):c.645-2A>G
|
rs1590168368
|
|
|
NM_000360.4(TH):c.645C>A (p.His215Gln)
|
rs768037080
|
|
|
NM_000360.4(TH):c.647G>A (p.Gly216Asp)
|
|
|
|
NM_000360.4(TH):c.652C>T (p.Pro218Ser)
|
|
|
|
NM_000360.4(TH):c.654G>A (p.Pro218=)
|
rs1489723629
|
|
|
NM_000360.4(TH):c.660C>G (p.Pro220=)
|
rs1292625376
|
|
|
NM_000360.4(TH):c.661C>T (p.Arg221Cys)
|
|
|
|
NM_000360.4(TH):c.662G>T (p.Arg221Leu)
|
rs150559011
|
|
|
NM_000360.4(TH):c.663T>A (p.Arg221=)
|
|
|
|
NM_000360.4(TH):c.669G>A (p.Glu223=)
|
rs2133694789
|
|
|
NM_000360.4(TH):c.672C>G (p.Tyr224Ter)
|
rs1554923218
|
|
|
NM_000360.4(TH):c.672C>T (p.Tyr224=)
|
rs1554923218
|
|
|
NM_000360.4(TH):c.678C>A (p.Ala226=)
|
|
|
|
NM_000360.4(TH):c.678C>G (p.Ala226=)
|
rs139619260
|
|
|
NM_000360.4(TH):c.680A>C (p.Glu227Ala)
|
rs929509309
|
|
|
NM_000360.4(TH):c.685A>C (p.Ile229Leu)
|
rs778613708
|
|
|
NM_000360.4(TH):c.695+11C>A
|
|
|
|
NM_000360.4(TH):c.695+11C>G
|
|
|
|
NM_000360.4(TH):c.695+12G>A
|
rs757808045
|
|
|
NM_000360.4(TH):c.695+12G>C
|
rs757808045
|
|
|
NM_000360.4(TH):c.695+15C>A
|
rs767877866
|
|
|
NM_000360.4(TH):c.695+20A>G
|
|
|
|
NM_000360.4(TH):c.695+8C>T
|
rs2133694676
|
|
|
NM_000360.4(TH):c.696-10C>G
|
|
|
|
NM_000360.4(TH):c.696-14C>T
|
|
|
|
NM_000360.4(TH):c.696-15C>A
|
|
|
|
NM_000360.4(TH):c.696-4G>A
|
rs750548460
|
|
|
NM_000360.4(TH):c.696-8_696-7delinsCT
|
rs2133693922
|
|
|
NM_000360.4(TH):c.69C>T (p.Ala23=)
|
rs2133704123
|
|
|
NM_000360.4(TH):c.6C>T (p.Pro2=)
|
|
|
|
NM_000360.4(TH):c.702G>A (p.Glu234=)
|
rs1324380637
|
|
|
NM_000360.4(TH):c.702G>T (p.Glu234Asp)
|
|
|
|
NM_000360.4(TH):c.711del (p.Thr238fs)
|
|
|
|
NM_000360.4(TH):c.713C>G (p.Thr238Arg)
|
|
|
|
NM_000360.4(TH):c.713C>T (p.Thr238Met)
|
rs757607038
|
|
|
NM_000360.4(TH):c.714G>C (p.Thr238=)
|
rs747783772
|
|
|
NM_000360.4(TH):c.714_715del (p.Leu239fs)
|
rs1564918287
|
|
|
NM_000360.4(TH):c.717G>A (p.Leu239=)
|
rs2133693841
|
|
|
NM_000360.4(TH):c.722G>A (p.Gly241Asp)
|
|
|
|
NM_000360.4(TH):c.723C>T (p.Gly241=)
|
|
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
|
NM_000360.4(TH):c.727T>C (p.Tyr243His)
|
rs1196330512
|
|
|
NM_000360.4(TH):c.730G>C (p.Ala244Pro)
|
rs759968927
|
|
|
NM_000360.4(TH):c.730G>T (p.Ala244Ser)
|
rs759968927
|
|
|
NM_000360.4(TH):c.732C>T (p.Ala244=)
|
rs1846114858
|
|
|
NM_000360.4(TH):c.739G>A (p.Ala247Thr)
|
|
|
|
NM_000360.4(TH):c.739_743dup (p.Cys248fs)
|
|
|
|
NM_000360.4(TH):c.744C>T (p.Cys248=)
|
|
|
|
NM_000360.4(TH):c.747G>A (p.Gly249=)
|
rs2133693705
|
|
|
NM_000360.4(TH):c.755T>C (p.Leu252Pro)
|
rs978552119
|
|
|
NM_000360.4(TH):c.756G>C (p.Leu252=)
|
rs1381505844
|
|
|
NM_000360.4(TH):c.759G>A (p.Glu253=)
|
rs769914766
|
|
|
NM_000360.4(TH):c.75G>A (p.Gln25=)
|
rs2133704107
|
|
|
NM_000360.4(TH):c.762C>T (p.Ala254=)
|
|
|
|
NM_000360.4(TH):c.765T>G (p.Phe255Leu)
|
|
|
|
NM_000360.4(TH):c.767C>T (p.Ala256Val)
|
|
|
|
NM_000360.4(TH):c.777G>A (p.Glu259=)
|
|
|
|
NM_000360.4(TH):c.778C>G (p.Arg260Gly)
|
rs376462928
|
|
|
NM_000360.4(TH):c.778del (p.Arg260fs)
|
|
|
|
NM_000360.4(TH):c.787G>A (p.Gly263Ser)
|
|
|
|
NM_000360.4(TH):c.788del (p.Gly263fs)
|
rs2133693561
|
|
|
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
|
|
|
|
NM_000360.4(TH):c.78A>G (p.Ala26=)
|
rs2133704085
|
|
|
NM_000360.4(TH):c.78del (p.Glu27fs)
|
rs1846263622
|
|
|
NM_000360.4(TH):c.795G>C (p.Arg265=)
|
|
|
|
NM_000360.4(TH):c.795G>T (p.Arg265=)
|
rs773688571
|
|
|
NM_000360.4(TH):c.796G>T (p.Glu266Ter)
|
|
|
|
NM_000360.4(TH):c.799G>C (p.Asp267His)
|
rs1057524283
|
|
|
NM_000360.4(TH):c.804T>C (p.Asn268=)
|
rs1312460384
|
|
|
NM_000360.4(TH):c.807C>A (p.Ile269=)
|
rs763824588
|
|
|
NM_000360.4(TH):c.807C>T (p.Ile269=)
|
rs763824588
|
|
|
NM_000360.4(TH):c.810C>G (p.Pro270=)
|
rs1846110224
|
|
|
NM_000360.4(TH):c.810C>T (p.Pro270=)
|
rs1846110224
|
|
|
NM_000360.4(TH):c.816G>A (p.Leu272=)
|
|
|
|
NM_000360.4(TH):c.81G>A (p.Glu27=)
|
rs139742336
|
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
|
NM_000360.4(TH):c.822C>T (p.Asp274=)
|
rs776737582
|
|
|
NM_000360.4(TH):c.824T>G (p.Val275Gly)
|
rs2133693418
|
|
|
NM_000360.4(TH):c.825C>T (p.Val275=)
|
rs1384915680
|
|
|
NM_000360.4(TH):c.827C>A (p.Ser276Tyr)
|
|
|
|
NM_000360.4(TH):c.829C>A (p.Arg277Ser)
|
rs2133693392
|
|
|
NM_000360.4(TH):c.82G>C (p.Ala28Pro)
|
|
|
|
NM_000360.4(TH):c.831C>G (p.Arg277=)
|
rs1408483848
|
|
|
NM_000360.4(TH):c.837del (p.Lys280fs)
|
|
|
|
NM_000360.4(TH):c.841+13G>C
|
|
|
|
NM_000360.4(TH):c.841+14G>C
|
|
|
|
NM_000360.4(TH):c.841+18G>A
|
|
|
|
NM_000360.4(TH):c.841+1G>T
|
rs2133693369
|
|
|
NM_000360.4(TH):c.841+3G>A
|
rs528887823
|
|
|
NM_000360.4(TH):c.841+5G>A
|
rs1846109018
|
|
|
NM_000360.4(TH):c.841+8C>G
|
|
|
|
NM_000360.4(TH):c.841+9A>G
|
rs2133693348
|
|
|
NM_000360.4(TH):c.842-10C>A
|
rs1397228949
|
|
|
NM_000360.4(TH):c.842-12G>A
|
rs1009338117
|
|
|
NM_000360.4(TH):c.842-16G>C
|
|
|
|
NM_000360.4(TH):c.842-3C>A
|
|
|
|
NM_000360.4(TH):c.842-7C>G
|
|
|
|
NM_000360.4(TH):c.842-7C>T
|
|
|
|
NM_000360.4(TH):c.842-9C>G
|
|
|
|
NM_000360.4(TH):c.849G>C (p.Thr283=)
|
rs892319076
|
|
|
NM_000360.4(TH):c.858G>A (p.Gln286=)
|
|
|
|
NM_000360.4(TH):c.862C>T (p.Arg288Trp)
|
|
|
|
NM_000360.4(TH):c.864G>A (p.Arg288=)
|
|
|
|
NM_000360.4(TH):c.864G>C (p.Arg288=)
|
rs2133692970
|
|
|
NM_000360.4(TH):c.867T>A (p.Pro289=)
|
rs2133692968
|
|
|
NM_000360.4(TH):c.873C>G (p.Ala291=)
|
rs1176834491
|
|
|
NM_000360.4(TH):c.876C>T (p.Gly292=)
|
|
|
|
NM_000360.4(TH):c.885C>A (p.Ser295=)
|
|
|
|
NM_000360.4(TH):c.889C>T (p.Arg297Trp)
|
|
|
|
NM_000360.4(TH):c.891G>A (p.Arg297=)
|
rs1184382907
|
|
|
NM_000360.4(TH):c.898del (p.Leu300fs)
|
|
|
|
NM_000360.4(TH):c.90+10C>T
|
rs1554924321
|
|
|
NM_000360.4(TH):c.90+13G>T
|
rs77140743
|
|
|
NM_000360.4(TH):c.90+14T>A
|
|
|
|
NM_000360.4(TH):c.90+20C>A
|
|
|
|
NM_000360.4(TH):c.90+21C>T
|
|
|
|
NM_000360.4(TH):c.90+22C>A
|
|
|
|
NM_000360.4(TH):c.90+22C>T
|
rs753296112
|
|
|
NM_000360.4(TH):c.90+25C>G
|
|
|
|
NM_000360.4(TH):c.90+25C>T
|
|
|
|
NM_000360.4(TH):c.90+26G>A
|
rs191356744
|
|
|
NM_000360.4(TH):c.90+30G>T
|
|
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
|
NM_000360.4(TH):c.90+913C>G
|
|
|
|
NM_000360.4(TH):c.90+9G>A
|
|
|
|
NM_000360.4(TH):c.90+9G>T
|
|
|
|
NM_000360.4(TH):c.900G>C (p.Leu300=)
|
|
|
|
NM_000360.4(TH):c.901G>T (p.Ala301Ser)
|
|
|
|
NM_000360.4(TH):c.907C>T (p.Leu303=)
|
rs1229760285
|
|
|
NM_000360.4(TH):c.909G>A (p.Leu303=)
|
|
|
|
NM_000360.4(TH):c.909G>C (p.Leu303=)
|
|
|
|
NM_000360.4(TH):c.91-10G>T
|
|
|
|
NM_000360.4(TH):c.91-13C>T
|
|
|
|
NM_000360.4(TH):c.91-16C>T
|
rs2133700285
|
|
|
NM_000360.4(TH):c.91-19G>A
|
|
|
|
NM_000360.4(TH):c.91-20_91-10del
|
rs2133700266
|
|
|
NM_000360.4(TH):c.91-4A>C
|
rs2133700257
|
|
|
NM_000360.4(TH):c.91-5C>T
|
|
|
|
NM_000360.4(TH):c.91-801C>T
|
|
|
|
NM_000360.4(TH):c.91-806_91-805del
|
|
|
|
NM_000360.4(TH):c.91-810G>A
|
|
|
|
NM_000360.4(TH):c.91-810G>C
|
|
|
|
NM_000360.4(TH):c.91-819G>A
|
rs1330998143
|
|
|
NM_000360.4(TH):c.91-819G>T
|
rs1330998143
|
|
|
NM_000360.4(TH):c.91-822A>G
|
rs1023369939
|
|
|
NM_000360.4(TH):c.91-831C>T
|
rs2133701838
|
|
|
NM_000360.4(TH):c.91-833dup
|
|
|
|
NM_000360.4(TH):c.91-835AC[3]
|
|
|
|
NM_000360.4(TH):c.91-840A>G
|
|
|
|
NM_000360.4(TH):c.91-847C>T
|
|
|
|
NM_000360.4(TH):c.91-849C>T
|
|
|
|
NM_000360.4(TH):c.91-851G>A
|
rs1186732715
|
|
|
NM_000360.4(TH):c.91-856C>A
|
|
|
|
NM_000360.4(TH):c.91-870T>C
|
rs748155087
|
|
|
NM_000360.4(TH):c.91-873C>A
|
rs771992434
|
|
|
NM_000360.4(TH):c.91-875G>A
|
|
|
|
NM_000360.4(TH):c.91-882C>T
|
|
|
|
NM_000360.4(TH):c.91-883dup
|
|
|
|
NM_000360.4(TH):c.91-885C>T
|
|
|
|
NM_000360.4(TH):c.91-886C>T
|
|
|
|
NM_000360.4(TH):c.91-888G>A
|
rs1227673897
|
|
|
NM_000360.4(TH):c.91-893C>T
|
|
|
|
NM_000360.4(TH):c.91-897C>A
|
|
|
|
NM_000360.4(TH):c.91-897C>G
|
rs762373165
|
|
|
NM_000360.4(TH):c.91-8C>T
|
rs1490379030
|
|
|
NM_000360.4(TH):c.91-903C>A
|
rs1036726742
|
|
|
NM_000360.4(TH):c.91-904C>T
|
rs1590172417
|
|
|
NM_000360.4(TH):c.91-907C>T
|
|
|
|
NM_000360.4(TH):c.912C>T (p.Ala304=)
|
rs1590167156
|
|
|
NM_000360.4(TH):c.916del (p.Arg306fs)
|
|
|
|
NM_000360.4(TH):c.917G>A (p.Arg306His)
|
rs28934580
|
|
|
NM_000360.4(TH):c.925C>T (p.Gln309Ter)
|
|
|
|
NM_000360.4(TH):c.933C>G (p.Thr311=)
|
|
|
|
NM_000360.4(TH):c.933C>T (p.Thr311=)
|
|
|
|
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
|
|
|
|
NM_000360.4(TH):c.93C>T (p.Ser31=)
|
rs1217960145
|
|
|
NM_000360.4(TH):c.942C>T (p.Ile314=)
|
|
|
|
NM_000360.4(TH):c.948C>T (p.His316=)
|
|
|
|
NM_000360.4(TH):c.950C>A (p.Ala317Glu)
|
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
|
NM_000360.4(TH):c.957G>A (p.Ser319=)
|
|
|
|
NM_000360.4(TH):c.960C>A (p.Pro320=)
|
rs1846099712
|
|
|
NM_000360.4(TH):c.960C>T (p.Pro320=)
|
|
|
|
NM_000360.4(TH):c.969C>T (p.Ser323=)
|
rs2133692653
|
|
|
NM_000360.4(TH):c.96G>C (p.Pro32=)
|
rs202167640
|
|
|
NM_000360.4(TH):c.970C>T (p.Pro324Ser)
|
|
|
|
NM_000360.4(TH):c.977+11G>C
|
|
|
|
NM_000360.4(TH):c.977+11G>T
|
|
|
|
NM_000360.4(TH):c.977+13C>A
|
|
|
|
NM_000360.4(TH):c.977+13C>G
|
|
|
|
NM_000360.4(TH):c.977+16G>A
|
|
|
|
NM_000360.4(TH):c.977+18C>A
|
rs753752531
|
|
|
NM_000360.4(TH):c.977+1G>A
|
rs1057516736
|
|
|
NM_000360.4(TH):c.977+1del
|
|
|
|
NM_000360.4(TH):c.977+20G>A
|
|
|
|
NM_000360.4(TH):c.977+20G>C
|
|
|
|
NM_000360.4(TH):c.977+8C>T
|
rs12419447
|
|
|
NM_000360.4(TH):c.978-11C>T
|
|
|
|
NM_000360.4(TH):c.978-13C>G
|
|
|
|
NM_000360.4(TH):c.978-14C>T
|
rs781570336
|
|
|
NM_000360.4(TH):c.978-15C>G
|
|
|
|
NM_000360.4(TH):c.978-1G>A
|
|
|
|
NM_000360.4(TH):c.978-20C>T
|
|
|
|
NM_000360.4(TH):c.978-4G>C
|
|
|
|
NM_000360.4(TH):c.978-4G>T
|
rs1422368520
|
|
|
NM_000360.4(TH):c.978-5C>T
|
rs1337547432
|
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
|
NM_000360.4(TH):c.978-8A>C
|
rs1846096199
|
|
|
NM_000360.4(TH):c.97C>T (p.Arg33Trp)
|
|
|
|
NM_000360.4(TH):c.982_991del (p.Cys328fs)
|
|
|
|
NM_000360.4(TH):c.990del (p.His330fs)
|
rs1846095407
|
|
|
NM_000360.4(TH):c.991G>T (p.Glu331Ter)
|
rs1260079066
|
|
|
NM_000360.4(TH):c.993G>A (p.Glu331=)
|
rs2133692335
|
|
|
NM_000360.4(TH):c.997C>T (p.Leu333=)
|
rs2133692317
|
|
|
NM_000360.4(TH):c.9C>G (p.Thr3=)
|
rs1419519961
|
|
|
NM_000387.6(SLC25A20):c.105+15G>T
|
|
|
|
NM_000387.6(SLC25A20):c.105+18G>T
|
|
|
|
NM_000387.6(SLC25A20):c.105+1G>T
|
rs970037429
|
|
|
NM_000387.6(SLC25A20):c.105+7_105+10dup
|
rs775942451
|
|
|
NM_000387.6(SLC25A20):c.105+8A>T
|
|
|
|
NM_000387.6(SLC25A20):c.106-11T>C
|
|
|
|
NM_000387.6(SLC25A20):c.106-20A>C
|
|
|
|
NM_000387.6(SLC25A20):c.106-20A>G
|
|
|
|
NM_000387.6(SLC25A20):c.106-2A>G
|
|
|
|
NM_000387.6(SLC25A20):c.106-4T>C
|
|
|
|
NM_000387.6(SLC25A20):c.106-7T>C
|
|
|
|
NM_000387.6(SLC25A20):c.106-8G>A
|
|
|
|
NM_000387.6(SLC25A20):c.109C>T (p.Arg37Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
|
NM_000387.6(SLC25A20):c.125del (p.Pro42fs)
|
|
|
|
NM_000387.6(SLC25A20):c.129G>A (p.Pro43=)
|
|
|
|
NM_000387.6(SLC25A20):c.131G>A (p.Ser44Asn)
|
|
|
|
NM_000387.6(SLC25A20):c.139_147del (p.Gly47_Pro49del)
|
|
|
|
NM_000387.6(SLC25A20):c.159T>C (p.Ser53=)
|
|
|
|
NM_000387.6(SLC25A20):c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla)
|
rs2083881514
|
|
|
NM_000387.6(SLC25A20):c.167T>C (p.Phe56Ser)
|
rs1216285427
|
|
|
NM_000387.6(SLC25A20):c.170_173del (p.Asp57fs)
|
|
|
|
NM_000387.6(SLC25A20):c.171C>T (p.Asp57=)
|
|
|
|
NM_000387.6(SLC25A20):c.180del (p.Lys61fs)
|
|
|
|
NM_000387.6(SLC25A20):c.183G>A (p.Lys61=)
|
|
|
|
NM_000387.6(SLC25A20):c.191_192del (p.Leu63_Phe64insTer)
|
rs2083881207
|
|
|
NM_000387.6(SLC25A20):c.198+11G>A
|
rs2106665785
|
|
|
NM_000387.6(SLC25A20):c.198+13T>C
|
|
|
|
NM_000387.6(SLC25A20):c.198+15C>A
|
|
|
|
NM_000387.6(SLC25A20):c.198+19G>A
|
rs199753606
|
|
|
NM_000387.6(SLC25A20):c.198+19G>T
|
|
|
|
NM_000387.6(SLC25A20):c.198+4G>A
|
|
|
|
NM_000387.6(SLC25A20):c.198+7A>G
|
|
|
|
NM_000387.6(SLC25A20):c.198+9A>G
|
rs896736499
|
|
|
NM_000387.6(SLC25A20):c.198G>A (p.Glu66=)
|
|
|
|
NM_000387.6(SLC25A20):c.199-14G>C
|
|
|
|
NM_000387.6(SLC25A20):c.199-20G>A
|
|
|
|
NM_000387.6(SLC25A20):c.199-5del
|
|
|
|
NM_000387.6(SLC25A20):c.199-6T>A
|
|
|
|
NM_000387.6(SLC25A20):c.199-7C>T
|
|
|
|
NM_000387.6(SLC25A20):c.1A>G (p.Met1Val)
|
|
|
|
NM_000387.6(SLC25A20):c.201C>T (p.Gly67=)
|
|
|
|
NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met)
|
|
|
|
NM_000387.6(SLC25A20):c.211del (p.Leu71fs)
|
|
|
|
NM_000387.6(SLC25A20):c.213A>G (p.Leu71=)
|
|
|
|
NM_000387.6(SLC25A20):c.237C>T (p.Ile79=)
|
|
|
|
NM_000387.6(SLC25A20):c.240C>T (p.Ile80=)
|
|
|
|
NM_000387.6(SLC25A20):c.244del (p.Val82fs)
|
rs2083814457
|
|
|
NM_000387.6(SLC25A20):c.254T>A (p.Met85Lys)
|
|
|
|
NM_000387.6(SLC25A20):c.260C>T (p.Ala87Val)
|
|
|
|
NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)
|
|
|
|
NM_000387.6(SLC25A20):c.27C>T (p.Ser9=)
|
|
|
|
NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)
|
|
|
|
NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter)
|
rs1553686321
|
|
|
NM_000387.6(SLC25A20):c.294A>G (p.Lys98=)
|
|
|
|
NM_000387.6(SLC25A20):c.297A>G (p.Leu99=)
|
|
|
|
NM_000387.6(SLC25A20):c.29C>T (p.Pro10Leu)
|
rs376837831
|
|
|
NM_000387.6(SLC25A20):c.301C>T (p.Gln101Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.306A>G (p.Lys102=)
|
|
|
|
NM_000387.6(SLC25A20):c.306_315del (p.His103fs)
|
|
|
|
NM_000387.6(SLC25A20):c.30G>A (p.Pro10=)
|
|
|
|
NM_000387.6(SLC25A20):c.324C>T (p.Leu108=)
|
|
|
|
NM_000387.6(SLC25A20):c.326+11A>G
|
|
|
|
NM_000387.6(SLC25A20):c.326+15G>T
|
|
|
|
NM_000387.6(SLC25A20):c.326+1G>C
|
|
|
|
NM_000387.6(SLC25A20):c.326+1del
|
rs757552268
|
|
|
NM_000387.6(SLC25A20):c.326+8C>T
|
|
|
|
NM_000387.6(SLC25A20):c.327-20G>A
|
|
|
|
NM_000387.6(SLC25A20):c.327-7A>G
|
|
|
|
NM_000387.6(SLC25A20):c.363C>G (p.Gly121=)
|
|
|
|
NM_000387.6(SLC25A20):c.363C>T (p.Gly121=)
|
|
|
|
NM_000387.6(SLC25A20):c.364G>A (p.Val122Ile)
|
rs150419695
|
|
|
NM_000387.6(SLC25A20):c.364G>C (p.Val122Leu)
|
rs150419695
|
|
|
NM_000387.6(SLC25A20):c.375A>G (p.Thr125=)
|
|
|
|
NM_000387.6(SLC25A20):c.394G>T (p.Glu132Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
|
NM_000387.6(SLC25A20):c.402C>T (p.Ile134=)
|
|
|
|
NM_000387.6(SLC25A20):c.408C>T (p.Cys136=)
|
|
|
|
NM_000387.6(SLC25A20):c.411A>G (p.Leu137=)
|
|
|
|
NM_000387.6(SLC25A20):c.415C>T (p.Gln139Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.417+1G>A
|
|
|
|
NM_000387.6(SLC25A20):c.417+9G>A
|
|
|
|
NM_000387.6(SLC25A20):c.418-14C>A
|
|
|
|
NM_000387.6(SLC25A20):c.418-3C>A
|
rs200732067
|
|
|
NM_000387.6(SLC25A20):c.418-8C>T
|
|
|
|
NM_000387.6(SLC25A20):c.432A>C (p.Ser144=)
|
|
|
|
NM_000387.6(SLC25A20):c.449C>T (p.Thr150Ile)
|
|
|
|
NM_000387.6(SLC25A20):c.453T>C (p.Gly151=)
|
|
|
|
NM_000387.6(SLC25A20):c.486G>A (p.Glu162=)
|
|
|
|
NM_000387.6(SLC25A20):c.487T>C (p.Phe163Leu)
|
|
|
|
NM_000387.6(SLC25A20):c.48del (p.Gly17fs)
|
rs2106672523
|
|
|
NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)
|
|
|
|
NM_000387.6(SLC25A20):c.497G>A (p.Arg166Gln)
|
|
|
|
NM_000387.6(SLC25A20):c.505dup (p.Tyr169fs)
|
rs1553684897
|
|
|
NM_000387.6(SLC25A20):c.508A>C (p.Lys170Gln)
|
rs1030639285
|
|
|
NM_000387.6(SLC25A20):c.510_514dup (p.Thr172fs)
|
|
|
|
NM_000387.6(SLC25A20):c.514A>G (p.Thr172Ala)
|
|
|
|
NM_000387.6(SLC25A20):c.516T>C (p.Thr172=)
|
|
|
|
NM_000387.6(SLC25A20):c.519G>C (p.Val173=)
|
|
|
|
NM_000387.6(SLC25A20):c.51C>A (p.Gly17=)
|
|
|
|
NM_000387.6(SLC25A20):c.525C>T (p.Thr175=)
|
|
|
|
NM_000387.6(SLC25A20):c.528del (p.Met177fs)
|
rs997204610
|
|
|
NM_000387.6(SLC25A20):c.532C>G (p.Arg178Gly)
|
rs778220325
|
|
|
NM_000387.6(SLC25A20):c.535+13G>A
|
|
|
|
NM_000387.6(SLC25A20):c.536-10C>T
|
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|
NM_000387.6(SLC25A20):c.536-13_536-3del
|
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|
|
NM_000387.6(SLC25A20):c.540C>G (p.Val180=)
|
|
|
|
NM_000387.6(SLC25A20):c.542C>A (p.Pro181Gln)
|
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|
|
NM_000387.6(SLC25A20):c.542del (p.Pro181fs)
|
|
|
|
NM_000387.6(SLC25A20):c.591C>T (p.Phe197=)
|
|
|
|
NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)
|
|
|
|
NM_000387.6(SLC25A20):c.609-12G>T
|
|
|
|
NM_000387.6(SLC25A20):c.609-14T>C
|
|
|
|
NM_000387.6(SLC25A20):c.609-19T>C
|
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|
|
NM_000387.6(SLC25A20):c.609-5T>C
|
|
|
|
NM_000387.6(SLC25A20):c.611T>C (p.Val204Ala)
|
|
|
|
NM_000387.6(SLC25A20):c.612C>T (p.Val204=)
|
|
|
|
NM_000387.6(SLC25A20):c.619C>T (p.Leu207Phe)
|
|
|
|
NM_000387.6(SLC25A20):c.632G>A (p.Arg211Gln)
|
|
|
|
NM_000387.6(SLC25A20):c.645dup (p.Gly216fs)
|
|
|
|
NM_000387.6(SLC25A20):c.647G>T (p.Gly216Val)
|
|
|
|
NM_000387.6(SLC25A20):c.654T>A (p.Ile218=)
|
|
|
|
NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg)
|
rs2083603903
|
|
|
NM_000387.6(SLC25A20):c.669C>T (p.Asn223=)
|
|
|
|
NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)
|
rs577331691
|
|
|
NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)
|
|
|
|
NM_000387.6(SLC25A20):c.706C>T (p.Arg236Ter)
|
|
|
|
NM_000387.6(SLC25A20):c.70C>G (p.Leu24Val)
|
rs2106672482
|
|
|
NM_000387.6(SLC25A20):c.715A>G (p.Thr239Ala)
|
|
|
|
NM_000387.6(SLC25A20):c.718+12G>A
|
|
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|
NM_000387.6(SLC25A20):c.718+12G>C
|
|
|
|
NM_000387.6(SLC25A20):c.718+1G>C
|
|
|
|
NM_000387.6(SLC25A20):c.719-18T>C
|
|
|
|
NM_000387.6(SLC25A20):c.719-5C>T
|
|
|
|
NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr)
|
rs2083598994
|
|
|
NM_000387.6(SLC25A20):c.729del (p.Lys244fs)
|
|
|
|
NM_000387.6(SLC25A20):c.72G>T (p.Leu24=)
|
|
|
|
NM_000387.6(SLC25A20):c.738T>C (p.Pro246=)
|
|
|
|
NM_000387.6(SLC25A20):c.73G>A (p.Val25Met)
|
|
|
|
NM_000387.6(SLC25A20):c.763_764delinsAT (p.Glu255Met)
|
rs2106637527
|
|
|
NM_000387.6(SLC25A20):c.771C>T (p.Ile257=)
|
|
|
|
NM_000387.6(SLC25A20):c.772C>T (p.Arg258Trp)
|
|
|
|
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)
|
rs754871147
|
|
|
NM_000387.6(SLC25A20):c.783A>C (p.Gly261=)
|
|
|
|
NM_000387.6(SLC25A20):c.803G>C (p.Gly268Ala)
|
|
|
|
NM_000387.6(SLC25A20):c.804del (p.Phe269fs)
|
rs753414360
|
|
|
NM_000387.6(SLC25A20):c.812C>T (p.Ala271Val)
|
|
|
|
NM_000387.6(SLC25A20):c.816G>A (p.Val272=)
|
|
|
|
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)
|
rs747335514
|
|
|
NM_000387.6(SLC25A20):c.832C>T (p.Pro278Ser)
|
|
|
|
NM_000387.6(SLC25A20):c.83G>A (p.Gly28Asp)
|
rs2106672462
|
|
|
NM_000387.6(SLC25A20):c.842C>T (p.Ala281Val)
|
|
|
|
NM_000387.6(SLC25A20):c.843+20G>T
|
|
|
|
NM_000387.6(SLC25A20):c.844-12A>T
|
|
|
|
NM_000387.6(SLC25A20):c.844-5C>T
|
|
|
|
NM_000387.6(SLC25A20):c.854T>G (p.Leu285Arg)
|
|
|
|
NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)
|
|
|
|
NM_000387.6(SLC25A20):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_000387.6(SLC25A20):c.881T>C (p.Leu294Pro)
|
|
|
|
NM_000387.6(SLC25A20):c.882T>C (p.Leu294=)
|
|
|
|
NM_000387.6(SLC25A20):c.88C>T (p.Pro30Ser)
|
rs780569251
|
|
|
NM_000387.6(SLC25A20):c.895C>G (p.Pro299Ala)
|
|
|
|
NM_000387.6(SLC25A20):c.897dup (p.Asn300fs)
|
rs587776759
|
|
|
NM_000387.6(SLC25A20):c.899A>G (p.Asn300Ser)
|
|
|
|
NM_000387.6(SLC25A20):c.901T>C (p.Leu301=)
|
|
|
|
NM_000387.6(SLC25A20):c.90T>G (p.Pro30=)
|
|
|
|
NM_000387.6(SLC25A20):c.91C>T (p.Leu31=)
|
|
|
|
NM_000387.6(SLC25A20):c.99G>A (p.Thr33=)
|
|
|
|
NM_000387.6(SLC25A20):c.99G>T (p.Thr33=)
|
|
|
|
NM_000481.4(AMT):c.1001G>T (p.Ser334Ile)
|
rs2107929053
|
|
|
NM_000481.4(AMT):c.1002T>C (p.Ser334=)
|
|
|
|
NM_000481.4(AMT):c.1005C>T (p.Pro335=)
|
rs2107929049
|
|
|
NM_000481.4(AMT):c.1008C>T (p.Ile336=)
|
|
|
|
NM_000481.4(AMT):c.1009C>T (p.Leu337=)
|
|
|
|
NM_000481.4(AMT):c.1011G>C (p.Leu337=)
|
rs1339213409
|
|
|
NM_000481.4(AMT):c.102C>T (p.Arg34=)
|
|
|
|
NM_000481.4(AMT):c.1030A>T (p.Ile344Phe)
|
rs2049024917
|
|
|
NM_000481.4(AMT):c.1033+10C>T
|
|
|
|
NM_000481.4(AMT):c.1033+13G>C
|
|
|
|
NM_000481.4(AMT):c.1033+17A>G
|
|
|
|
NM_000481.4(AMT):c.1033+18G>A
|
|
|
|
NM_000481.4(AMT):c.1033+18G>C
|
|
|
|
NM_000481.4(AMT):c.1033+1G>A
|
|
|
|
NM_000481.4(AMT):c.1033+1G>C
|
rs2107928969
|
|
|
NM_000481.4(AMT):c.1033+2T>C
|
rs1553638247
|
|
|
NM_000481.4(AMT):c.1034-11T>G
|
|
|
|
NM_000481.4(AMT):c.1034-16T>C
|
|
|
|
NM_000481.4(AMT):c.1034-19G>A
|
|
|
|
NM_000481.4(AMT):c.1034-1G>C
|
rs1575302765
|
|
|
NM_000481.4(AMT):c.1034-30_1034-18dup
|
rs2107928803
|
|
|
NM_000481.4(AMT):c.1034-6T>C
|
|
|
|
NM_000481.4(AMT):c.1034-8C>T
|
|
|
|
NM_000481.4(AMT):c.1039G>C (p.Val347Leu)
|
|
|
|
NM_000481.4(AMT):c.1040T>C (p.Val347Ala)
|
|
|
|
NM_000481.4(AMT):c.1040dup (p.Thr348fs)
|
|
|
|
NM_000481.4(AMT):c.1053C>T (p.Cys351=)
|
rs747901545
|
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
|
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)
|
rs768293167
|
|
|
NM_000481.4(AMT):c.1059C>T (p.Ser353=)
|
|
|
|
NM_000481.4(AMT):c.1062C>G (p.Pro354=)
|
rs377227163
|
|
|
NM_000481.4(AMT):c.1062C>T (p.Pro354=)
|
rs377227163
|
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
|
NM_000481.4(AMT):c.1073A>C (p.Lys358Thr)
|
|
|
|
NM_000481.4(AMT):c.1076A>C (p.Asn359Thr)
|
rs2107928652
|
|
|
NM_000481.4(AMT):c.1077T>C (p.Asn359=)
|
rs1559527521
|
|
|
NM_000481.4(AMT):c.1079_1080del (p.Val360fs)
|
|
|
|
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
|
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
|
NM_000481.4(AMT):c.1089T>C (p.Gly363=)
|
|
|
|
NM_000481.4(AMT):c.108A>C (p.Thr36=)
|
rs1179441264
|
|
|
NM_000481.4(AMT):c.108A>G (p.Thr36=)
|
|
|
|
NM_000481.4(AMT):c.1098C>T (p.Pro366=)
|
rs1231229906
|
|
|
NM_000481.4(AMT):c.10G>C (p.Ala4Pro)
|
rs753829515
|
|
|
NM_000481.4(AMT):c.10del (p.Ala4fs)
|
|
|
|
NM_000481.4(AMT):c.1101C>A (p.Cys367Ter)
|
|
|
|
NM_000481.4(AMT):c.1102G>T (p.Glu368Ter)
|
|
|
|
NM_000481.4(AMT):c.1104G>A (p.Glu368=)
|
rs767969842
|
|
|
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)
|
rs2049020585
|
|
|
NM_000481.4(AMT):c.1108A>G (p.Ser370Gly)
|
|
|
|
NM_000481.4(AMT):c.1111C>T (p.Arg371Cys)
|
rs1200405341
|
|
|
NM_000481.4(AMT):c.1112G>A (p.Arg371His)
|
rs147006017
|
|
|
NM_000481.4(AMT):c.1122A>G (p.Thr374=)
|
rs2107928529
|
|
|
NM_000481.4(AMT):c.1124T>C (p.Met375Thr)
|
|
|
|
NM_000481.4(AMT):c.1128G>C (p.Leu376=)
|
rs2107928524
|
|
|
NM_000481.4(AMT):c.1131G>A (p.Leu377=)
|
|
|
|
NM_000481.4(AMT):c.1134A>C (p.Val378=)
|
rs2107928520
|
|
|
NM_000481.4(AMT):c.1138G>A (p.Val380Met)
|
rs1306590343
|
|
|
NM_000481.4(AMT):c.1141C>A (p.Arg381=)
|
rs775324601
|
|
|
NM_000481.4(AMT):c.1142G>A (p.Arg381Gln)
|
|
|
|
NM_000481.4(AMT):c.1150CAG[1] (p.Gln385del)
|
rs747544827
|
|
|
NM_000481.4(AMT):c.1155G>C (p.Gln385His)
|
|
|
|
NM_000481.4(AMT):c.1162G>A (p.Val388Ile)
|
|
|
|
NM_000481.4(AMT):c.1164A>C (p.Val388=)
|
|
|
|
NM_000481.4(AMT):c.116A>G (p.Tyr39Cys)
|
|
|
|
NM_000481.4(AMT):c.1181T>C (p.Phe394Ser)
|
|
|
|
NM_000481.4(AMT):c.1187C>T (p.Pro396Leu)
|
|
|
|
NM_000481.4(AMT):c.1191A>C (p.Thr397=)
|
rs2107928409
|
|
|
NM_000481.4(AMT):c.1197C>T (p.Tyr399=)
|
rs756452579
|
|
|
NM_000481.4(AMT):c.1198T>C (p.Tyr400His)
|
|
|
|
NM_000481.4(AMT):c.1199A>C (p.Tyr400Ser)
|
|
|
|
NM_000481.4(AMT):c.1203C>T (p.Thr401=)
|
rs1489152600
|
|
|
NM_000481.4(AMT):c.1204C>T (p.Leu402Phe)
|
|
|
|
NM_000481.4(AMT):c.1204_1206del (p.Leu402del)
|
rs1559527384
|
|
|
NM_000481.4(AMT):c.1206C>G (p.Leu402=)
|
rs2107928357
|
|
|
NM_000481.4(AMT):c.1209del (p.Lys403fs)
|
rs1553638189
|
|
|
NM_000481.4(AMT):c.127C>T (p.Leu43=)
|
|
|
|
NM_000481.4(AMT):c.12T>A (p.Ala4=)
|
|
|
|
NM_000481.4(AMT):c.130G>A (p.Ala44Thr)
|
rs2049118414
|
|
|
NM_000481.4(AMT):c.132C>T (p.Ala44=)
|
|
|
|
NM_000481.4(AMT):c.136G>A (p.Gly46Ser)
|
|
|
|
NM_000481.4(AMT):c.138C>T (p.Gly46=)
|
|
|
|
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
|
|
|
|
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
|
|
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
|
NM_000481.4(AMT):c.148G>T (p.Val50Leu)
|
rs148917929
|
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
|
NM_000481.4(AMT):c.150G>A (p.Val50=)
|
|
|
|
NM_000481.4(AMT):c.153G>T (p.Ala51=)
|
rs768510463
|
|
|
NM_000481.4(AMT):c.155T>C (p.Phe52Ser)
|
rs2107937639
|
|
|
NM_000481.4(AMT):c.155T>G (p.Phe52Cys)
|
rs2107937639
|
|
|
NM_000481.4(AMT):c.156T>C (p.Phe52=)
|
rs993993334
|
|
|
NM_000481.4(AMT):c.159G>C (p.Ala53=)
|
rs201080782
|
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
|
NM_000481.4(AMT):c.164G>A (p.Trp55Ter)
|
rs1559530507
|
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
|
NM_000481.4(AMT):c.168_171del (p.Leu57fs)
|
rs2107937574
|
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
|
NM_000481.4(AMT):c.171G>T (p.Leu57=)
|
rs2107937565
|
|
|
NM_000481.4(AMT):c.175G>A (p.Val59Met)
|
|
|
|
NM_000481.4(AMT):c.178C>T (p.Gln60Ter)
|
rs2107937536
|
|
|
NM_000481.4(AMT):c.184C>T (p.Arg62Trp)
|
|
|
|
NM_000481.4(AMT):c.185G>A (p.Arg62Gln)
|
|
|
|
NM_000481.4(AMT):c.186G>C (p.Arg62=)
|
rs2049116342
|
|
|
NM_000481.4(AMT):c.188A>G (p.Asp63Gly)
|
rs2107937495
|
|
|
NM_000481.4(AMT):c.189C>G (p.Asp63Glu)
|
|
|
|
NM_000481.4(AMT):c.18T>C (p.Ser6=)
|
|
|
|
NM_000481.4(AMT):c.196A>G (p.Thr66Ala)
|
rs2049115954
|
|
|
NM_000481.4(AMT):c.216A>G (p.Thr72=)
|
rs2049115116
|
|
|
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
|
|
|
|
NM_000481.4(AMT):c.21G>C (p.Val7=)
|
|
|
|
NM_000481.4(AMT):c.221del (p.Gln74fs)
|
rs2107937370
|
|
|
NM_000481.4(AMT):c.222G>A (p.Gln74=)
|
rs2107937363
|
|
|
NM_000481.4(AMT):c.224del (p.His75fs)
|
rs2107937352
|
|
|
NM_000481.4(AMT):c.228C>T (p.Cys76=)
|
|
|
|
NM_000481.4(AMT):c.235T>A (p.Phe79Ile)
|
|
|
|
NM_000481.4(AMT):c.236_237del (p.Leu78_Phe79insTer)
|
|
|
|
NM_000481.4(AMT):c.240C>T (p.Asp80=)
|
rs1316776129
|
|
|
NM_000481.4(AMT):c.241G>A (p.Val81Met)
|
|
|
|
NM_000481.4(AMT):c.242T>C (p.Val81Ala)
|
|
|
|
NM_000481.4(AMT):c.248A>C (p.His83Pro)
|
|
|
|
NM_000481.4(AMT):c.250_251del (p.Met84fs)
|
|
|
|
NM_000481.4(AMT):c.256C>T (p.Gln86Ter)
|
rs1575308888
|
|
|
NM_000481.4(AMT):c.257dup (p.Thr87fs)
|
rs2107937267
|
|
|
NM_000481.4(AMT):c.258+10G>A
|
rs2107937238
|
|
|
NM_000481.4(AMT):c.258+13A>G
|
|
|
|
NM_000481.4(AMT):c.258+14G>A
|
|
|
|
NM_000481.4(AMT):c.258+17C>T
|
|
|
|
NM_000481.4(AMT):c.258+1G>A
|
|
|
|
NM_000481.4(AMT):c.258+6C>G
|
rs1451725049
|
|
|
NM_000481.4(AMT):c.258+8del
|
|
|
|
NM_000481.4(AMT):c.259-13A>G
|
|
|
|
NM_000481.4(AMT):c.259-16T>C
|
|
|
|
NM_000481.4(AMT):c.259-20G>A
|
|
|
|
NM_000481.4(AMT):c.259-2A>C
|
rs748522054
|
|
|
NM_000481.4(AMT):c.259-4C>T
|
rs769933849
|
|
|
NM_000481.4(AMT):c.259-6C>T
|
rs2049102970
|
|
|
NM_000481.4(AMT):c.259-8dup
|
rs1195350527
|
|
|
NM_000481.4(AMT):c.259-9C>T
|
rs2107936124
|
|
|
NM_000481.4(AMT):c.261C>G (p.Thr87=)
|
|
|
|
NM_000481.4(AMT):c.264_265dup (p.Ile89fs)
|
|
|
|
NM_000481.4(AMT):c.269_270delinsCC (p.Leu90Pro)
|
rs2107936070
|
|
|
NM_000481.4(AMT):c.270T>C (p.Leu90=)
|
|
|
|
NM_000481.4(AMT):c.271_273del (p.Gly91del)
|
rs2107936054
|
|
|
NM_000481.4(AMT):c.279C>T (p.Asp93=)
|
rs1575308228
|
|
|
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_000481.4(AMT):c.282G>A (p.Arg94=)
|
|
|
|
NM_000481.4(AMT):c.285G>A (p.Val95=)
|
rs2049102202
|
|
|
NM_000481.4(AMT):c.288G>A (p.Lys96=)
|
|
|
|
NM_000481.4(AMT):c.289C>T (p.Leu97=)
|
|
|
|
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
|
|
|
|
NM_000481.4(AMT):c.293T>G (p.Met98Arg)
|
rs2107935989
|
|
|
NM_000481.4(AMT):c.297G>A (p.Glu99=)
|
rs2107935984
|
|
|
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
|
|
|
|
NM_000481.4(AMT):c.2T>A (p.Met1Lys)
|
rs1266259634
|
|
|
NM_000481.4(AMT):c.2T>C (p.Met1Thr)
|
rs1266259634
|
|
|
NM_000481.4(AMT):c.303A>G (p.Leu101=)
|
rs756789501
|
|
|
NM_000481.4(AMT):c.306G>A (p.Val102=)
|
|
|
|
NM_000481.4(AMT):c.306G>C (p.Val102=)
|
rs964800487
|
|
|
NM_000481.4(AMT):c.324G>A (p.Glu108=)
|
|
|
|
NM_000481.4(AMT):c.335A>G (p.Asn112Ser)
|
rs2107935915
|
|
|
NM_000481.4(AMT):c.339+15T>C
|
|
|
|
NM_000481.4(AMT):c.339+17C>T
|
|
|
|
NM_000481.4(AMT):c.339+18T>G
|
|
|
|
NM_000481.4(AMT):c.339+3G>A
|
rs752570901
|
|
|
NM_000481.4(AMT):c.339+3G>T
|
rs752570901
|
|
|
NM_000481.4(AMT):c.339+8C>A
|
|
|
|
NM_000481.4(AMT):c.340-10T>C
|
|
|
|
NM_000481.4(AMT):c.340-12C>T
|
|
|
|
NM_000481.4(AMT):c.340-17C>T
|
|
|
|
NM_000481.4(AMT):c.340-18G>A
|
|
|
|
NM_000481.4(AMT):c.340-9T>C
|
rs2107933861
|
|
|
NM_000481.4(AMT):c.340-9del
|
|
|
|
NM_000481.4(AMT):c.345A>T (p.Thr115=)
|
|
|
|
NM_000481.4(AMT):c.346C>T (p.Leu116=)
|
|
|
|
NM_000481.4(AMT):c.351G>A (p.Ser117=)
|
|
|
|
NM_000481.4(AMT):c.357T>C (p.Phe119=)
|
rs1559529373
|
|
|
NM_000481.4(AMT):c.359C>G (p.Thr120Ser)
|
|
|
|
NM_000481.4(AMT):c.359C>T (p.Thr120Ile)
|
rs766350668
|
|
|
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
|
|
|
|
NM_000481.4(AMT):c.360C>T (p.Thr120=)
|
|
|
|
NM_000481.4(AMT):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_000481.4(AMT):c.371G>A (p.Gly124Glu)
|
rs1575306496
|
|
|
NM_000481.4(AMT):c.372A>C (p.Gly124=)
|
rs1365568599
|
|
|
NM_000481.4(AMT):c.381A>G (p.Leu127=)
|
rs2049077607
|
|
|
NM_000481.4(AMT):c.387C>T (p.Asp129=)
|
|
|
|
NM_000481.4(AMT):c.393T>C (p.Ile131=)
|
rs2107933716
|
|
|
NM_000481.4(AMT):c.402T>C (p.Asn134=)
|
rs2107933698
|
|
|
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
|
|
|
|
NM_000481.4(AMT):c.414C>T (p.Gly138=)
|
|
|
|
NM_000481.4(AMT):c.415C>G (p.His139Asp)
|
|
|
|
NM_000481.4(AMT):c.41G>A (p.Arg14His)
|
|
|
|
NM_000481.4(AMT):c.423T>C (p.Tyr141=)
|
|
|
|
NM_000481.4(AMT):c.42C>T (p.Arg14=)
|
rs2107938326
|
|
|
NM_000481.4(AMT):c.432C>G (p.Ser144=)
|
rs2107933634
|
|
|
NM_000481.4(AMT):c.448G>A (p.Glu150Lys)
|
|
|
|
NM_000481.4(AMT):c.450G>A (p.Glu150=)
|
|
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
|
NM_000481.4(AMT):c.467T>C (p.Met156Thr)
|
rs2107933555
|
|
|
NM_000481.4(AMT):c.471+10C>G
|
|
|
|
NM_000481.4(AMT):c.471+10C>T
|
|
|
|
NM_000481.4(AMT):c.471+10del
|
|
|
|
NM_000481.4(AMT):c.471+10dup
|
|
|
|
NM_000481.4(AMT):c.471+11T>C
|
|
|
|
NM_000481.4(AMT):c.471+12_471+13del
|
rs370772505
|
|
|
NM_000481.4(AMT):c.471+14G>A
|
|
|
|
NM_000481.4(AMT):c.471+19C>A
|
|
|
|
NM_000481.4(AMT):c.471+20T>C
|
|
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
|
NM_000481.4(AMT):c.471+2_471+7del
|
|
|
|
NM_000481.4(AMT):c.471+8C>T
|
rs367986797
|
|
|
NM_000481.4(AMT):c.471+9C>A
|
rs760770619
|
|
|
NM_000481.4(AMT):c.471+9C>G
|
|
|
|
NM_000481.4(AMT):c.472-10T>C
|
rs1211622746
|
|
|
NM_000481.4(AMT):c.472-11C>T
|
|
|
|
NM_000481.4(AMT):c.472-17G>C
|
|
|
|
NM_000481.4(AMT):c.472-19_472-18del
|
|
|
|
NM_000481.4(AMT):c.472-7C>T
|
|
|
|
NM_000481.4(AMT):c.472-8T>C
|
|
|
|
NM_000481.4(AMT):c.472-9G>A
|
|
|
|
NM_000481.4(AMT):c.474C>T (p.Asp158=)
|
rs765176362
|
|
|
NM_000481.4(AMT):c.477G>A (p.Lys159=)
|
rs2107932948
|
|
|
NM_000481.4(AMT):c.486G>A (p.Glu162=)
|
|
|
|
NM_000481.4(AMT):c.489T>G (p.Leu163=)
|
|
|
|
NM_000481.4(AMT):c.501C>A (p.Gly167=)
|
|
|
|
NM_000481.4(AMT):c.501C>G (p.Gly167=)
|
|
|
|
NM_000481.4(AMT):c.502A>C (p.Arg168=)
|
rs2107932896
|
|
|
NM_000481.4(AMT):c.512G>A (p.Gly171Asp)
|
|
|
|
NM_000481.4(AMT):c.513C>T (p.Gly171=)
|
rs555045517
|
|
|
NM_000481.4(AMT):c.514C>T (p.Leu172=)
|
|
|
|
NM_000481.4(AMT):c.515T>C (p.Leu172Pro)
|
rs1366977126
|
|
|
NM_000481.4(AMT):c.522G>A (p.Val174=)
|
|
|
|
NM_000481.4(AMT):c.523T>C (p.Leu175=)
|
rs535318089
|
|
|
NM_000481.4(AMT):c.526G>A (p.Asp176Asn)
|
|
|
|
NM_000481.4(AMT):c.531T>C (p.Asn177=)
|
rs2049066669
|
|
|
NM_000481.4(AMT):c.533C>T (p.Ala178Val)
|
|
|
|
NM_000481.4(AMT):c.534C>T (p.Ala178=)
|
rs928504970
|
|
|
NM_000481.4(AMT):c.534_535dup (p.Leu179fs)
|
|
|
|
NM_000481.4(AMT):c.538C>T (p.Leu180=)
|
rs1559528976
|
|
|
NM_000481.4(AMT):c.546G>T (p.Leu182=)
|
|
|
|
NM_000481.4(AMT):c.550+10C>G
|
|
|
|
NM_000481.4(AMT):c.550+10_550+15del
|
|
|
|
NM_000481.4(AMT):c.550+12G>A
|
|
|
|
NM_000481.4(AMT):c.550+16T>C
|
|
|
|
NM_000481.4(AMT):c.550+17G>A
|
|
|
|
NM_000481.4(AMT):c.550+18G>C
|
|
|
|
NM_000481.4(AMT):c.550+5G>A
|
|
|
|
NM_000481.4(AMT):c.550+7G>A
|
rs755478633
|
|
|
NM_000481.4(AMT):c.550+9G>A
|
|
|
|
NM_000481.4(AMT):c.550+9G>T
|
|
|
|
NM_000481.4(AMT):c.551-11C>T
|
rs760119523
|
|
|
NM_000481.4(AMT):c.551-15G>A
|
|
|
|
NM_000481.4(AMT):c.551-18C>G
|
|
|
|
NM_000481.4(AMT):c.551-4C>T
|
|
|
|
NM_000481.4(AMT):c.551-6G>A
|
rs937463808
|
|
|
NM_000481.4(AMT):c.551-9T>C
|
|
|
|
NM_000481.4(AMT):c.552C>A (p.Gly184=)
|
|
|
|
NM_000481.4(AMT):c.552C>T (p.Gly184=)
|
rs771745221
|
|
|
NM_000481.4(AMT):c.561A>C (p.Ala187=)
|
rs2107932359
|
|
|
NM_000481.4(AMT):c.562G>A (p.Ala188Thr)
|
|
|
|
NM_000481.4(AMT):c.565C>T (p.Gln189Ter)
|
|
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
|
NM_000481.4(AMT):c.578C>G (p.Ala193Gly)
|
|
|
|
NM_000481.4(AMT):c.579C>A (p.Ala193=)
|
rs749313171
|
|
|
NM_000481.4(AMT):c.57C>T (p.Pro19=)
|
rs770512923
|
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
|
NM_000481.4(AMT):c.580G>A (p.Gly194Ser)
|
|
|
|
NM_000481.4(AMT):c.582C>A (p.Gly194=)
|
rs377552553
|
|
|
NM_000481.4(AMT):c.585G>A (p.Val195=)
|
rs2049060090
|
|
|
NM_000481.4(AMT):c.591T>C (p.Asp197=)
|
rs2107932258
|
|
|
NM_000481.4(AMT):c.597G>A (p.Leu199=)
|
|
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
|
NM_000481.4(AMT):c.59dup (p.Ala21fs)
|
rs386833686
|
|
|
NM_000481.4(AMT):c.602_603del (p.Lys201fs)
|
rs1279743247
|
|
|
NM_000481.4(AMT):c.609C>A (p.Pro203=)
|
rs1314175857
|
|
|
NM_000481.4(AMT):c.609dup (p.Phe204fs)
|
rs2107932226
|
|
|
NM_000481.4(AMT):c.614T>G (p.Met205Arg)
|
rs2107932197
|
|
|
NM_000481.4(AMT):c.621T>C (p.Ser207=)
|
rs2107932184
|
|
|
NM_000481.4(AMT):c.624T>C (p.Ala208=)
|
|
|
|
NM_000481.4(AMT):c.625G>A (p.Val209Met)
|
rs370287514
|
|
|
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
|
|
|
|
NM_000481.4(AMT):c.633G>A (p.Glu211=)
|
|
|
|
NM_000481.4(AMT):c.643G>A (p.Val215Met)
|
rs1030915796
|
|
|
NM_000481.4(AMT):c.643G>C (p.Val215Leu)
|
rs1030915796
|
|
|
NM_000481.4(AMT):c.645_646del (p.Ser216fs)
|
|
|
|
NM_000481.4(AMT):c.648T>C (p.Ser216=)
|
|
|
|
NM_000481.4(AMT):c.651C>T (p.Gly217=)
|
rs1256823141
|
|
|
NM_000481.4(AMT):c.654C>T (p.Cys218=)
|
|
|
|
NM_000481.4(AMT):c.655C>T (p.Arg219Cys)
|
|
|
|
NM_000481.4(AMT):c.663C>A (p.Thr221=)
|
rs2107932078
|
|
|
NM_000481.4(AMT):c.664C>A (p.Arg222Ser)
|
rs781466698
|
|
|
NM_000481.4(AMT):c.666C>A (p.Arg222=)
|
rs2107932060
|
|
|
NM_000481.4(AMT):c.666C>T (p.Arg222=)
|
rs2107932060
|
|
|
NM_000481.4(AMT):c.669T>A (p.Cys223Ter)
|
|
|
|
NM_000481.4(AMT):c.669T>C (p.Cys223=)
|
rs2107932045
|
|
|
NM_000481.4(AMT):c.66G>A (p.Leu22=)
|
rs2107938211
|
|
|
NM_000481.4(AMT):c.672_680del (p.Tyr225_Gly227del)
|
|
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
|
NM_000481.4(AMT):c.677C>T (p.Thr226Ile)
|
rs2107932030
|
|
|
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
|
|
|
|
NM_000481.4(AMT):c.681A>G (p.Gly227=)
|
rs2107932020
|
|
|
NM_000481.4(AMT):c.685G>C (p.Asp229His)
|
rs1553638463
|
|
|
NM_000481.4(AMT):c.687T>C (p.Asp229=)
|
rs1292063206
|
|
|
NM_000481.4(AMT):c.690T>C (p.Gly230=)
|
|
|
|
NM_000481.4(AMT):c.693G>A (p.Val231=)
|
|
|
|
NM_000481.4(AMT):c.696+10G>A
|
|
|
|
NM_000481.4(AMT):c.696+15G>A
|
|
|
|
NM_000481.4(AMT):c.696+16_696+18del
|
|
|
|
NM_000481.4(AMT):c.696+19T>C
|
|
|
|
NM_000481.4(AMT):c.696+20G>T
|
|
|
|
NM_000481.4(AMT):c.696+2T>A
|
rs541594122
|
|
|
NM_000481.4(AMT):c.696+9A>G
|
|
|
|
NM_000481.4(AMT):c.696+9A>T
|
rs758602446
|
|
|
NM_000481.4(AMT):c.697-10T>C
|
rs2107931790
|
|
|
NM_000481.4(AMT):c.697-14G>A
|
|
|
|
NM_000481.4(AMT):c.697-17T>C
|
|
|
|
NM_000481.4(AMT):c.697-18C>T
|
|
|
|
NM_000481.4(AMT):c.697-19C>T
|
|
|
|
NM_000481.4(AMT):c.697-1G>A
|
|
|
|
NM_000481.4(AMT):c.697-20C>T
|
|
|
|
NM_000481.4(AMT):c.697-2A>C
|
|
|
|
NM_000481.4(AMT):c.697-7C>T
|
rs2107931789
|
|
|
NM_000481.4(AMT):c.697-8T>G
|
|
|
|
NM_000481.4(AMT):c.699C>A (p.Ile233=)
|
rs369840558
|
|
|
NM_000481.4(AMT):c.6G>A (p.Gln2=)
|
|
|
|
NM_000481.4(AMT):c.705G>T (p.Val235=)
|
rs1324646911
|
|
|
NM_000481.4(AMT):c.708G>A (p.Pro236=)
|
rs760662679
|
|
|
NM_000481.4(AMT):c.708G>C (p.Pro236=)
|
|
|
|
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
|
|
|
|
NM_000481.4(AMT):c.70C>T (p.Arg24Cys)
|
rs371656220
|
|
|
NM_000481.4(AMT):c.714G>A (p.Ala238=)
|
rs772179698
|
|
|
NM_000481.4(AMT):c.714G>C (p.Ala238=)
|
|
|
|
NM_000481.4(AMT):c.714G>T (p.Ala238=)
|
rs772179698
|
|
|
NM_000481.4(AMT):c.714_724del (p.Gly239fs)
|
|
|
|
NM_000481.4(AMT):c.719C>T (p.Ala240Val)
|
|
|
|
NM_000481.4(AMT):c.721G>A (p.Val241Ile)
|
rs1004875097
|
|
|
NM_000481.4(AMT):c.727C>A (p.Leu243Met)
|
rs1575304886
|
|
|
NM_000481.4(AMT):c.732A>C (p.Ala244=)
|
|
|
|
NM_000481.4(AMT):c.732A>G (p.Ala244=)
|
rs2049053045
|
|
|
NM_000481.4(AMT):c.734_735del (p.Thr245fs)
|
rs2049052992
|
|
|
NM_000481.4(AMT):c.738T>A (p.Ala246=)
|
rs746145744
|
|
|
NM_000481.4(AMT):c.738T>C (p.Ala246=)
|
|
|
|
NM_000481.4(AMT):c.73C>T (p.Pro25Ser)
|
rs751869343
|
|
|
NM_000481.4(AMT):c.74del (p.Pro25fs)
|
|
|
|
NM_000481.4(AMT):c.753A>G (p.Pro251=)
|
|
|
|
NM_000481.4(AMT):c.754G>A (p.Glu252Lys)
|
|
|
|
NM_000481.4(AMT):c.756G>A (p.Glu252=)
|
|
|
|
NM_000481.4(AMT):c.757del (p.Glu252_Val253insTer)
|
|
|
|
NM_000481.4(AMT):c.75A>G (p.Pro25=)
|
|
|
|
NM_000481.4(AMT):c.765G>A (p.Leu255=)
|
|
|
|
NM_000481.4(AMT):c.768A>T (p.Ala256=)
|
|
|
|
NM_000481.4(AMT):c.771G>A (p.Gly257=)
|
rs1575304815
|
|
|
NM_000481.4(AMT):c.771G>C (p.Gly257=)
|
|
|
|
NM_000481.4(AMT):c.771del (p.Leu258fs)
|
|
|
|
NM_000481.4(AMT):c.774G>A (p.Leu258=)
|
rs756652661
|
|
|
NM_000481.4(AMT):c.77T>A (p.Leu26His)
|
|
|
|
NM_000481.4(AMT):c.786C>T (p.Asp262=)
|
|
|
|
NM_000481.4(AMT):c.796C>T (p.Leu266=)
|
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
|
NM_000481.4(AMT):c.805G>A (p.Gly269Ser)
|
rs2049051018
|
|
|
NM_000481.4(AMT):c.806G>A (p.Gly269Asp)
|
rs121964981
|
|
|
NM_000481.4(AMT):c.810C>T (p.Leu270=)
|
rs2107931481
|
|
|
NM_000481.4(AMT):c.813C>T (p.Cys271=)
|
rs2107931474
|
|
|
NM_000481.4(AMT):c.815dup (p.Tyr273fs)
|
|
|
|
NM_000481.4(AMT):c.819T>A (p.Tyr273Ter)
|
rs2107931458
|
|
|
NM_000481.4(AMT):c.81T>C (p.Ser27=)
|
rs2107938151
|
|
|
NM_000481.4(AMT):c.822_836dup (p.Glu279_His280insAsnAspIleAspGlu)
|
|
|
|
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
|
|
|
|
NM_000481.4(AMT):c.830T>A (p.Ile277Asn)
|
rs1052014497
|
|
|
NM_000481.4(AMT):c.840C>T (p.His280=)
|
rs759675831
|
|
|
NM_000481.4(AMT):c.841A>G (p.Thr281Ala)
|
|
|
|
NM_000481.4(AMT):c.843T>A (p.Thr281=)
|
|
|
|
NM_000481.4(AMT):c.843T>G (p.Thr281=)
|
rs774244896
|
|
|
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
|
|
|
|
NM_000481.4(AMT):c.849T>A (p.Pro283=)
|
|
|
|
NM_000481.4(AMT):c.850G>A (p.Val284Met)
|
rs2107931384
|
|
|
NM_000481.4(AMT):c.855G>A (p.Glu285=)
|
rs2049049754
|
|
|
NM_000481.4(AMT):c.856G>A (p.Gly286Ser)
|
rs778159864
|
|
|
NM_000481.4(AMT):c.857G>A (p.Gly286Asp)
|
rs2049049669
|
|
|
NM_000481.4(AMT):c.867T>C (p.Ser289=)
|
rs1342940505
|
|
|
NM_000481.4(AMT):c.877+16A>C
|
|
|
|
NM_000481.4(AMT):c.877+17C>T
|
|
|
|
NM_000481.4(AMT):c.877+18T>C
|
|
|
|
NM_000481.4(AMT):c.877+5G>A
|
|
|
|
NM_000481.4(AMT):c.877+7T>G
|
rs2107931324
|
|
|
NM_000481.4(AMT):c.877+9G>A
|
|
|
|
NM_000481.4(AMT):c.877+9G>C
|
|
|
|
NM_000481.4(AMT):c.878-11del
|
|
|
|
NM_000481.4(AMT):c.878-12G>A
|
|
|
|
NM_000481.4(AMT):c.878-15T>C
|
rs771225879
|
|
|
NM_000481.4(AMT):c.878-16A>T
|
rs904011401
|
|
|
NM_000481.4(AMT):c.878-19C>G
|
|
|
|
NM_000481.4(AMT):c.878-19C>T
|
|
|
|
NM_000481.4(AMT):c.878-6dup
|
rs2107929373
|
|
|
NM_000481.4(AMT):c.878-7T>C
|
|
|
|
NM_000481.4(AMT):c.878-7del
|
|
|
|
NM_000481.4(AMT):c.878-8T>C
|
rs2107929385
|
|
|
NM_000481.4(AMT):c.878-9A>G
|
|
|
|
NM_000481.4(AMT):c.878G>A (p.Gly293Glu)
|
|
|
|
NM_000481.4(AMT):c.879G>A (p.Gly293=)
|
rs972670254
|
|
|
NM_000481.4(AMT):c.87A>G (p.Ala29=)
|
|
|
|
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
|
|
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
|
NM_000481.4(AMT):c.887G>T (p.Arg296Leu)
|
rs386833690
|
|
|
NM_000481.4(AMT):c.892G>A (p.Ala298Thr)
|
rs2049028177
|
|
|
NM_000481.4(AMT):c.90+10A>G
|
|
|
|
NM_000481.4(AMT):c.90+10A>T
|
rs1415657857
|
|
|
NM_000481.4(AMT):c.90+12G>A
|
|
|
|
NM_000481.4(AMT):c.90+13G>A
|
|
|
|
NM_000481.4(AMT):c.90+1G>T
|
|
|
|
NM_000481.4(AMT):c.90+20T>C
|
|
|
|
NM_000481.4(AMT):c.90+4G>A
|
rs2107938113
|
|
|
NM_000481.4(AMT):c.90+5G>C
|
|
|
|
NM_000481.4(AMT):c.90+9G>C
|
rs1447827681
|
|
|
NM_000481.4(AMT):c.906C>T (p.Phe302=)
|
|
|
|
NM_000481.4(AMT):c.908del (p.Pro303fs)
|
rs1575303218
|
|
|
NM_000481.4(AMT):c.91-10C>A
|
|
|
|
NM_000481.4(AMT):c.91-14C>T
|
|
|
|
NM_000481.4(AMT):c.91-20C>G
|
|
|
|
NM_000481.4(AMT):c.91-2A>G
|
|
|
|
NM_000481.4(AMT):c.91-7C>T
|
rs758737016
|
|
|
NM_000481.4(AMT):c.911G>A (p.Gly304Glu)
|
rs2049027770
|
|
|
NM_000481.4(AMT):c.923T>C (p.Ile308Thr)
|
|
|
|
NM_000481.4(AMT):c.928C>T (p.Pro310Ser)
|
|
|
|
NM_000481.4(AMT):c.930C>G (p.Pro310=)
|
|
|
|
NM_000481.4(AMT):c.930C>T (p.Pro310=)
|
|
|
|
NM_000481.4(AMT):c.931C>T (p.Gln311Ter)
|
|
|
|
NM_000481.4(AMT):c.946G>T (p.Val316Leu)
|
|
|
|
NM_000481.4(AMT):c.948G>A (p.Val316=)
|
rs1575303144
|
|
|
NM_000481.4(AMT):c.950A>G (p.Gln317Arg)
|
rs146114174
|
|
|
NM_000481.4(AMT):c.957G>A (p.Arg319=)
|
|
|
|
NM_000481.4(AMT):c.959G>T (p.Arg320Leu)
|
rs121964985
|
|
|
NM_000481.4(AMT):c.95T>C (p.Val32Ala)
|
|
|
|
NM_000481.4(AMT):c.961G>C (p.Val321Leu)
|
|
|
|
NM_000481.4(AMT):c.965_966del (p.Gly322fs)
|
|
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
|
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
|
|
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
|
NM_000481.4(AMT):c.99C>T (p.Leu33=)
|
rs2107937805
|
|
|
NM_000531.5(OTC):c.-106C>A
|
rs749748052
|
|
|
NM_000531.5(OTC):c.-116C>T
|
rs1555971006
|
|
|
NM_000531.5(OTC):c.-142G>A
|
rs1555971000
|
|
|
NM_000531.6(OTC):c.1002C>A (p.Ile334=)
|
|
|
|
NM_000531.6(OTC):c.1005+12A>G
|
|
|
|
NM_000531.6(OTC):c.1005+20T>C
|
|
|
|
NM_000531.6(OTC):c.1005G>A (p.Met335Ile)
|
rs281865553
|
|
|
NM_000531.6(OTC):c.1006-13G>A
|
|
|
|
NM_000531.6(OTC):c.1006-6C>T
|
rs2147349912
|
|
|
NM_000531.6(OTC):c.1008T>A (p.Ala336=)
|
|
|
|
NM_000531.6(OTC):c.1012A>C (p.Met338Leu)
|
|
|
|
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe)
|
rs1569282905
|
|
|
NM_000531.6(OTC):c.1020C>T (p.Ser340=)
|
|
|
|
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del)
|
rs2068592611
|
|
|
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro)
|
rs2068592679
|
|
|
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
|
|
|
|
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
|
rs72558491
|
|
|
NM_000531.6(OTC):c.1033T>C (p.Tyr345His)
|
rs66469337
|
|
|
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
|
|
|
|
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)
|
|
|
|
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)
|
rs2147349974
|
|
|
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
|
|
|
|
NM_000531.6(OTC):c.114G>A (p.Lys38=)
|
rs1057522000
|
|
|
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
|
rs1602014500
|
|
|
NM_000531.6(OTC):c.119G>A (p.Arg40His)
|
rs72554308
|
|
|
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
|
|
|
|
NM_000531.6(OTC):c.122A>G (p.Asp41Gly)
|
rs74518351
|
|
|
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
|
|
|
|
NM_000531.6(OTC):c.132T>C (p.Thr44=)
|
|
|
|
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
|
|
|
|
NM_000531.6(OTC):c.139A>C (p.Asn47His)
|
|
|
|
NM_000531.6(OTC):c.140A>T (p.Asn47Ile)
|
rs67939655
|
|
|
NM_000531.6(OTC):c.144T>C (p.Phe48=)
|
|
|
|
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
|
|
|
|
NM_000531.6(OTC):c.147C>G (p.Thr49=)
|
rs144153859
|
|
|
NM_000531.6(OTC):c.149G>C (p.Gly50Ala)
|
rs201802621
|
|
|
NM_000531.6(OTC):c.154G>A (p.Glu52Lys)
|
rs66521141
|
|
|
NM_000531.6(OTC):c.154G>T (p.Glu52Ter)
|
rs66521141
|
|
|
NM_000531.6(OTC):c.158T>C (p.Ile53Thr)
|
rs66677059
|
|
|
NM_000531.6(OTC):c.162A>G (p.Lys54=)
|
rs2147323601
|
|
|
NM_000531.6(OTC):c.177dup (p.Ser60fs)
|
rs2068302240
|
|
|
NM_000531.6(OTC):c.188T>C (p.Leu63Pro)
|
rs72554324
|
|
|
NM_000531.6(OTC):c.195T>C (p.Phe65=)
|
|
|
|
NM_000531.6(OTC):c.205C>T (p.Gln69Ter)
|
rs72554326
|
|
|
NM_000531.6(OTC):c.210A>G (p.Lys70=)
|
|
|
|
NM_000531.6(OTC):c.216+15C>A
|
|
|
|
NM_000531.6(OTC):c.216+15C>T
|
|
|
|
NM_000531.6(OTC):c.216+19T>C
|
|
|
|
NM_000531.6(OTC):c.216+1G>A
|
rs66693137
|
|
|
NM_000531.6(OTC):c.216+5G>A
|
|
|
|
NM_000531.6(OTC):c.216+8A>G
|
rs2147323670
|
|
|
NM_000531.6(OTC):c.217-15G>A
|
|
|
|
NM_000531.6(OTC):c.217-4A>G
|
rs2147324923
|
|
|
NM_000531.6(OTC):c.217-5TA[4]
|
rs759829103
|
|
|
NM_000531.6(OTC):c.229T>C (p.Leu77=)
|
|
|
|
NM_000531.6(OTC):c.231G>T (p.Leu77Phe)
|
rs72554329
|
|
|
NM_000531.6(OTC):c.241T>C (p.Ser81Pro)
|
rs2147324956
|
|
|
NM_000531.6(OTC):c.242C>T (p.Ser81Phe)
|
rs2068314927
|
|
|
NM_000531.6(OTC):c.244T>C (p.Leu82=)
|
rs1356711812
|
|
|
NM_000531.6(OTC):c.25T>C (p.Leu9=)
|
rs1440140895
|
|
|
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del)
|
rs2068315148
|
|
|
NM_000531.6(OTC):c.274C>T (p.Arg92Ter)
|
rs67418243
|
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
|
NM_000531.6(OTC):c.292G>A (p.Glu98Lys)
|
rs72554347
|
|
|
NM_000531.6(OTC):c.298+14C>G
|
|
|
|
NM_000531.6(OTC):c.298+18T>A
|
|
|
|
NM_000531.6(OTC):c.298+1G>A
|
rs68058881
|
|
|
NM_000531.6(OTC):c.298+2T>G
|
rs1555972538
|
|
|
NM_000531.6(OTC):c.298+2dup
|
rs1555972540
|
|
|
NM_000531.6(OTC):c.298+3_298+6del
|
rs2068315608
|
|
|
NM_000531.6(OTC):c.298+8C>T
|
|
|
|
NM_000531.6(OTC):c.299-11T>C
|
|
|
|
NM_000531.6(OTC):c.299-16T>C
|
|
|
|
NM_000531.6(OTC):c.299-18del
|
|
|
|
NM_000531.6(OTC):c.299-2A>G
|
rs2147330536
|
|
|
NM_000531.6(OTC):c.299-5T>C
|
rs377576551
|
|
|
NM_000531.6(OTC):c.299-7A>T
|
|
|
|
NM_000531.6(OTC):c.299-8del
|
rs764551624
|
|
|
NM_000531.6(OTC):c.299-8dup
|
rs764551624
|
|
|
NM_000531.6(OTC):c.299-9_299-8dup
|
|
|
|
NM_000531.6(OTC):c.2T>C (p.Met1Thr)
|
rs72552295
|
|
|
NM_000531.6(OTC):c.303T>C (p.Phe101=)
|
|
|
|
NM_000531.6(OTC):c.303del (p.Phe101fs)
|
rs1400669703
|
|
|
NM_000531.6(OTC):c.306A>T (p.Ala102=)
|
|
|
|
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
|
rs779154479
|
|
|
NM_000531.6(OTC):c.30C>T (p.Asn10=)
|
|
|
|
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
|
|
|
|
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
|
|
|
|
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
|
|
|
|
NM_000531.6(OTC):c.33T>C (p.Asn11=)
|
rs2147315497
|
|
|
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
|
|
|
|
NM_000531.6(OTC):c.348T>A (p.Ile116=)
|
|
|
|
NM_000531.6(OTC):c.350A>C (p.His117Pro)
|
|
|
|
NM_000531.6(OTC):c.352T>C (p.Leu118=)
|
rs2068375753
|
|
|
NM_000531.6(OTC):c.357T>C (p.Gly119=)
|
rs2068375897
|
|
|
NM_000531.6(OTC):c.365A>G (p.Glu122Gly)
|
rs1131691517
|
|
|
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
|
|
|
|
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
|
|
|
|
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)
|
|
|
|
NM_000531.6(OTC):c.381G>A (p.Thr127=)
|
|
|
|
NM_000531.6(OTC):c.386+10T>A
|
rs2068376461
|
|
|
NM_000531.6(OTC):c.386+9A>G
|
|
|
|
NM_000531.6(OTC):c.386+9del
|
|
|
|
NM_000531.6(OTC):c.386G>A (p.Arg129His)
|
rs66656800
|
|
|
NM_000531.6(OTC):c.387-11G>A
|
rs2147341204
|
|
|
NM_000531.6(OTC):c.387-18T>C
|
|
|
|
NM_000531.6(OTC):c.387-19T>G
|
|
|
|
NM_000531.6(OTC):c.387-2A>T
|
rs66556380
|
|
|
NM_000531.6(OTC):c.387-5C>A
|
rs2147341209
|
|
|
NM_000531.6(OTC):c.387T>C (p.Arg129=)
|
|
|
|
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr)
|
rs72556254
|
|
|
NM_000531.6(OTC):c.396T>C (p.Ser132=)
|
rs1602029553
|
|
|
NM_000531.6(OTC):c.3G>A (p.Met1Ile)
|
rs72552296
|
|
|
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)
|
rs770910923
|
|
|
NM_000531.6(OTC):c.415T>C (p.Leu139=)
|
|
|
|
NM_000531.6(OTC):c.416T>C (p.Leu139Ser)
|
rs72556259
|
|
|
NM_000531.6(OTC):c.419C>T (p.Ala140Val)
|
rs2147341270
|
|
|
NM_000531.6(OTC):c.421C>T (p.Arg141Ter)
|
rs67960011
|
|
|
NM_000531.6(OTC):c.422G>A (p.Arg141Gln)
|
rs68026851
|
|
|
NM_000531.6(OTC):c.425T>G (p.Val142Gly)
|
rs72556261
|
|
|
NM_000531.6(OTC):c.429T>A (p.Tyr143Ter)
|
rs145777402
|
|
|
NM_000531.6(OTC):c.435A>G (p.Gln145=)
|
|
|
|
NM_000531.6(OTC):c.439G>C (p.Asp147His)
|
|
|
|
NM_000531.6(OTC):c.441T>C (p.Asp147=)
|
rs2147341316
|
|
|
NM_000531.6(OTC):c.448A>G (p.Thr150Ala)
|
|
|
|
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
|
|
|
|
NM_000531.6(OTC):c.449C>A (p.Thr150Asn)
|
rs766735977
|
|
|
NM_000531.6(OTC):c.449C>T (p.Thr150Ile)
|
rs766735977
|
|
|
NM_000531.6(OTC):c.450C>T (p.Thr150=)
|
|
|
|
NM_000531.6(OTC):c.451del (p.Leu151fs)
|
rs72556264
|
|
|
NM_000531.6(OTC):c.452T>C (p.Leu151Pro)
|
rs72556265
|
|
|
NM_000531.6(OTC):c.459A>G (p.Lys153=)
|
rs2147341336
|
|
|
NM_000531.6(OTC):c.460G>T (p.Glu154Ter)
|
rs72556267
|
|
|
NM_000531.6(OTC):c.465A>G (p.Ala155=)
|
rs2147341344
|
|
|
NM_000531.6(OTC):c.473C>G (p.Pro158Arg)
|
rs2068485732
|
|
|
NM_000531.6(OTC):c.474A>G (p.Pro158=)
|
rs2147341354
|
|
|
NM_000531.6(OTC):c.478A>T (p.Ile160Phe)
|
rs2147341364
|
|
|
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
|
|
|
|
NM_000531.6(OTC):c.480C>T (p.Ile160=)
|
rs2147341370
|
|
|
NM_000531.6(OTC):c.482A>G (p.Asn161Ser)
|
rs72556271
|
|
|
NM_000531.6(OTC):c.483T>C (p.Asn161=)
|
rs72558497
|
|
|
NM_000531.6(OTC):c.484G>C (p.Gly162Arg)
|
rs66626662
|
|
|
NM_000531.6(OTC):c.485G>C (p.Gly162Ala)
|
rs72556272
|
|
|
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
|
rs72556272
|
|
|
NM_000531.6(OTC):c.487C>T (p.Leu163=)
|
rs2147341395
|
|
|
NM_000531.6(OTC):c.489G>A (p.Leu163=)
|
rs756269281
|
|
|
NM_000531.6(OTC):c.4C>T (p.Leu2=)
|
|
|
|
NM_000531.6(OTC):c.501C>T (p.Tyr167=)
|
|
|
|
NM_000531.6(OTC):c.503A>G (p.His168Arg)
|
rs66867430
|
|
|
NM_000531.6(OTC):c.505C>G (p.Pro169Ala)
|
rs72556277
|
|
|
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)
|
rs72556277
|
|
|
NM_000531.6(OTC):c.510C>T (p.Ile170=)
|
|
|
|
NM_000531.6(OTC):c.516C>A (p.Ile172=)
|
|
|
|
NM_000531.6(OTC):c.523G>A (p.Asp175Asn)
|
rs2068486828
|
|
|
NM_000531.6(OTC):c.528C>T (p.Tyr176=)
|
|
|
|
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
|
|
|
|
NM_000531.6(OTC):c.530T>C (p.Leu177Pro)
|
rs2068487036
|
|
|
NM_000531.6(OTC):c.530T>G (p.Leu177Arg)
|
rs2068487036
|
|
|
NM_000531.6(OTC):c.531C>G (p.Leu177=)
|
|
|
|
NM_000531.6(OTC):c.531C>T (p.Leu177=)
|
|
|
|
NM_000531.6(OTC):c.533C>T (p.Thr178Met)
|
rs72556284
|
|
|
NM_000531.6(OTC):c.535C>G (p.Leu179Val)
|
rs2068487136
|
|
|
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
|
rs2068487136
|
|
|
NM_000531.6(OTC):c.537C>G (p.Leu179=)
|
|
|
|
NM_000531.6(OTC):c.539A>C (p.Gln180Pro)
|
rs2147341500
|
|
|
NM_000531.6(OTC):c.540+16del
|
|
|
|
NM_000531.6(OTC):c.540+17G>A
|
|
|
|
NM_000531.6(OTC):c.540+17G>T
|
|
|
|
NM_000531.6(OTC):c.540+1G>C
|
rs72556288
|
|
|
NM_000531.6(OTC):c.540+1G>T
|
rs72556288
|
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
|
NM_000531.6(OTC):c.540G>C (p.Gln180His)
|
rs72556287
|
|
|
NM_000531.6(OTC):c.541-12C>A
|
rs2068500853
|
|
|
NM_000531.6(OTC):c.541-14C>T
|
|
|
|
NM_000531.6(OTC):c.546C>T (p.His182=)
|
|
|
|
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys)
|
rs72556293
|
|
|
NM_000531.6(OTC):c.54C>A (p.His18Gln)
|
rs2147315516
|
|
|
NM_000531.6(OTC):c.54C>T (p.His18=)
|
rs2147315516
|
|
|
NM_000531.6(OTC):c.558G>A (p.Leu186=)
|
rs2147342624
|
|
|
NM_000531.6(OTC):c.562G>A (p.Gly188Ser)
|
rs72556294
|
|
|
NM_000531.6(OTC):c.568dup (p.Thr190fs)
|
rs2068501144
|
|
|
NM_000531.6(OTC):c.570C>T (p.Thr190=)
|
|
|
|
NM_000531.6(OTC):c.577T>C (p.Trp193Arg)
|
rs67284661
|
|
|
NM_000531.6(OTC):c.579G>T (p.Trp193Cys)
|
rs2147342649
|
|
|
NM_000531.6(OTC):c.582C>A (p.Ile194=)
|
rs200564773
|
|
|
NM_000531.6(OTC):c.583G>A (p.Gly195Arg)
|
rs67294955
|
|
|
NM_000531.6(OTC):c.585G>A (p.Gly195=)
|
rs1800327
|
|
|
NM_000531.6(OTC):c.588T>A (p.Asp196Glu)
|
rs2068501518
|
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
|
NM_000531.6(OTC):c.593A>G (p.Asn198Ser)
|
rs72558403
|
|
|
NM_000531.6(OTC):c.597T>C (p.Asn199=)
|
|
|
|
NM_000531.6(OTC):c.601C>T (p.Leu201=)
|
rs2147342708
|
|
|
NM_000531.6(OTC):c.602T>C (p.Leu201Pro)
|
rs72558407
|
|
|
NM_000531.6(OTC):c.604C>G (p.His202Asp)
|
rs72558408
|
|
|
NM_000531.6(OTC):c.609del (p.Ile204fs)
|
|
|
|
NM_000531.6(OTC):c.613A>G (p.Met205Val)
|
rs72558411
|
|
|
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
|
rs2068501940
|
|
|
NM_000531.6(OTC):c.614T>C (p.Met205Thr)
|
rs2068501940
|
|
|
NM_000531.6(OTC):c.617T>A (p.Met206Lys)
|
rs72558412
|
|
|
NM_000531.6(OTC):c.617T>G (p.Met206Arg)
|
rs72558412
|
|
|
NM_000531.6(OTC):c.61A>G (p.Met21Val)
|
rs755909408
|
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
|
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
|
|
|
|
NM_000531.6(OTC):c.626C>A (p.Ala209Glu)
|
rs72558417
|
|
|
NM_000531.6(OTC):c.626C>T (p.Ala209Val)
|
rs72558417
|
|
|
NM_000531.6(OTC):c.629A>C (p.Lys210Thr)
|
rs2068502349
|
|
|
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
|
|
|
|
NM_000531.6(OTC):c.633C>T (p.Phe211=)
|
rs2147342757
|
|
|
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
|
|
|
|
NM_000531.6(OTC):c.636A>C (p.Gly212=)
|
|
|
|
NM_000531.6(OTC):c.641A>G (p.His214Arg)
|
|
|
|
NM_000531.6(OTC):c.642C>A (p.His214Gln)
|
|
|
|
NM_000531.6(OTC):c.642C>T (p.His214=)
|
rs1602031079
|
|
|
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)
|
rs2068502738
|
|
|
NM_000531.6(OTC):c.653_663del (p.Ala218fs)
|
rs2147342791
|
|
|
NM_000531.6(OTC):c.663+13T>C
|
|
|
|
NM_000531.6(OTC):c.663+1G>T
|
rs68170503
|
|
|
NM_000531.6(OTC):c.663+2T>C
|
rs72558427
|
|
|
NM_000531.6(OTC):c.663+7A>G
|
rs767994989
|
|
|
NM_000531.6(OTC):c.663+7_663+10delinsTGCA
|
rs2147342809
|
|
|
NM_000531.6(OTC):c.663+9A>T
|
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
|
NM_000531.6(OTC):c.664-13C>A
|
|
|
|
NM_000531.6(OTC):c.664-7C>T
|
|
|
|
NM_000531.6(OTC):c.664-8T>C
|
|
|
|
NM_000531.6(OTC):c.664-9C>T
|
|
|
|
NM_000531.6(OTC):c.664G>A (p.Gly222Ser)
|
|
|
|
NM_000531.6(OTC):c.672G>A (p.Glu224=)
|
|
|
|
NM_000531.6(OTC):c.673C>T (p.Pro225Ser)
|
rs72558428
|
|
|
NM_000531.6(OTC):c.674C>A (p.Pro225Gln)
|
rs67120076
|
|
|
NM_000531.6(OTC):c.674C>T (p.Pro225Leu)
|
rs67120076
|
|
|
NM_000531.6(OTC):c.67C>T (p.Arg23Ter)
|
rs72552300
|
|
|
NM_000531.6(OTC):c.681T>C (p.Ala227=)
|
|
|
|
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
|
|
|
|
NM_000531.6(OTC):c.694T>C (p.Leu232=)
|
rs2147344980
|
|
|
NM_000531.6(OTC):c.699A>C (p.Ala233=)
|
|
|
|
NM_000531.6(OTC):c.6G>A (p.Leu2=)
|
|
|
|
NM_000531.6(OTC):c.6G>C (p.Leu2=)
|
rs1602008611
|
|
|
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
|
|
|
|
NM_000531.6(OTC):c.714dup (p.Glu239fs)
|
|
|
|
NM_000531.6(OTC):c.717+13C>T
|
|
|
|
NM_000531.6(OTC):c.717+15T>C
|
|
|
|
NM_000531.6(OTC):c.717+17T>G
|
|
|
|
NM_000531.6(OTC):c.717+1G>A
|
rs66500027
|
|
|
NM_000531.6(OTC):c.717+20A>C
|
|
|
|
NM_000531.6(OTC):c.717+20A>G
|
|
|
|
NM_000531.6(OTC):c.717+3A>G
|
rs72558432
|
|
|
NM_000531.6(OTC):c.717+8C>G
|
|
|
|
NM_000531.6(OTC):c.717G>A (p.Glu239=)
|
rs66851495
|
|
|
NM_000531.6(OTC):c.718-11A>C
|
|
|
|
NM_000531.6(OTC):c.718-17G>A
|
|
|
|
NM_000531.6(OTC):c.718-18C>A
|
|
|
|
NM_000531.6(OTC):c.718-18C>T
|
rs55903043
|
|
|
NM_000531.6(OTC):c.726C>T (p.Thr242=)
|
rs2147345076
|
|
|
NM_000531.6(OTC):c.729G>A (p.Lys243=)
|
rs2147345080
|
|
|
NM_000531.6(OTC):c.732G>C (p.Leu244=)
|
rs2147345085
|
|
|
NM_000531.6(OTC):c.736C>T (p.Leu246=)
|
|
|
|
NM_000531.6(OTC):c.749dup (p.Leu251fs)
|
rs2068529327
|
|
|
NM_000531.6(OTC):c.758C>A (p.Ala253Glu)
|
rs2147345110
|
|
|
NM_000531.6(OTC):c.762G>A (p.Ala254=)
|
rs1388386866
|
|
|
NM_000531.6(OTC):c.77+11G>A
|
|
|
|
NM_000531.6(OTC):c.77+1G>A
|
rs67077695
|
|
|
NM_000531.6(OTC):c.77+20T>C
|
|
|
|
NM_000531.6(OTC):c.77+2dup
|
rs1569270890
|
|
|
NM_000531.6(OTC):c.77+5G>A
|
rs72552302
|
|
|
NM_000531.6(OTC):c.77+5G>C
|
rs72552302
|
|
|
NM_000531.6(OTC):c.77+8A>G
|
rs2147315564
|
|
|
NM_000531.6(OTC):c.774T>A (p.Asn258Lys)
|
rs777282515
|
|
|
NM_000531.6(OTC):c.77G>A (p.Arg26Gln)
|
rs68031618
|
|
|
NM_000531.6(OTC):c.78-12C>A
|
|
|
|
NM_000531.6(OTC):c.78-13T>A
|
|
|
|
NM_000531.6(OTC):c.78-1G>T
|
rs281865554
|
|
|
NM_000531.6(OTC):c.78-5T>C
|
|
|
|
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)
|
rs2068529696
|
|
|
NM_000531.6(OTC):c.789C>T (p.Asp263=)
|
rs2147345156
|
|
|
NM_000531.6(OTC):c.790A>G (p.Thr264Ala)
|
rs72558444
|
|
|
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
|
|
|
|
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
|
|
|
|
NM_000531.6(OTC):c.803T>C (p.Met268Thr)
|
rs72558449
|
|
|
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
|
|
|
|
NM_000531.6(OTC):c.806G>A (p.Gly269Glu)
|
rs72558450
|
|
|
NM_000531.6(OTC):c.810A>G (p.Gln270=)
|
|
|
|
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del)
|
rs2147345212
|
|
|
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
|
|
|
|
NM_000531.6(OTC):c.813A>G (p.Glu271=)
|
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
|
NM_000531.6(OTC):c.819G>A (p.Glu273=)
|
rs1602033324
|
|
|
NM_000531.6(OTC):c.81T>C (p.Cys27=)
|
rs993705802
|
|
|
NM_000531.6(OTC):c.822G>A (p.Lys274=)
|
rs2147345221
|
|
|
NM_000531.6(OTC):c.822del (p.Lys276fs)
|
rs2147345229
|
|
|
NM_000531.6(OTC):c.828_829delinsAA (p.Lys276_Arg277=)
|
rs2147345235
|
|
|
NM_000531.6(OTC):c.829C>A (p.Arg277=)
|
|
|
|
NM_000531.6(OTC):c.829C>T (p.Arg277Trp)
|
rs72558454
|
|
|
NM_000531.6(OTC):c.830G>A (p.Arg277Gln)
|
rs66724222
|
|
|
NM_000531.6(OTC):c.831G>T (p.Arg277=)
|
rs2147345248
|
|
|
NM_000531.6(OTC):c.840T>G (p.Ala280=)
|
rs2147345258
|
|
|
NM_000531.6(OTC):c.846A>G (p.Gln282=)
|
rs2068530338
|
|
|
NM_000531.6(OTC):c.848del (p.Gly283fs)
|
|
|
|
NM_000531.6(OTC):c.852C>T (p.Tyr284=)
|
rs2147345272
|
|
|
NM_000531.6(OTC):c.862A>G (p.Met288Val)
|
|
|
|
NM_000531.6(OTC):c.863T>G (p.Met288Arg)
|
|
|
|
NM_000531.6(OTC):c.867+1126A>C
|
|
|
|
NM_000531.6(OTC):c.867+1126A>G
|
rs1569281032
|
|
|
NM_000531.6(OTC):c.867+18T>C
|
|
|
|
NM_000531.6(OTC):c.867+19C>T
|
|
|
|
NM_000531.6(OTC):c.867+9T>C
|
|
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
|
NM_000531.6(OTC):c.868-10A>G
|
|
|
|
NM_000531.6(OTC):c.868-10A>T
|
rs2147346468
|
|
|
NM_000531.6(OTC):c.868-13C>A
|
|
|
|
NM_000531.6(OTC):c.868-13C>T
|
|
|
|
NM_000531.6(OTC):c.868-8C>T
|
|
|
|
NM_000531.6(OTC):c.870T>C (p.Thr290=)
|
rs794727959
|
|
|
NM_000531.6(OTC):c.885C>A (p.Ala295=)
|
rs974497183
|
|
|
NM_000531.6(OTC):c.889G>A (p.Asp297Asn)
|
rs2068544820
|
|
|
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
|
|
|
|
NM_000531.6(OTC):c.897A>C (p.Thr299=)
|
rs2147346527
|
|
|
NM_000531.6(OTC):c.897A>G (p.Thr299=)
|
|
|
|
NM_000531.6(OTC):c.903A>T (p.Leu301Phe)
|
rs72558462
|
|
|
NM_000531.6(OTC):c.904C>G (p.His302Asp)
|
rs72558463
|
|
|
NM_000531.6(OTC):c.907T>G (p.Cys303Gly)
|
rs67468335
|
|
|
NM_000531.6(OTC):c.912G>T (p.Leu304Phe)
|
rs72558465
|
|
|
NM_000531.6(OTC):c.914C>G (p.Pro305Arg)
|
rs67501347
|
|
|
NM_000531.6(OTC):c.915C>A (p.Pro305=)
|
|
|
|
NM_000531.6(OTC):c.915C>G (p.Pro305=)
|
|
|
|
NM_000531.6(OTC):c.916A>G (p.Arg306Gly)
|
rs2147346548
|
|
|
NM_000531.6(OTC):c.919A>G (p.Lys307Glu)
|
rs796052013
|
|
|
NM_000531.6(OTC):c.926AAG[1] (p.Glu310del)
|
rs2068545306
|
|
|
NM_000531.6(OTC):c.929A>T (p.Glu310Val)
|
|
|
|
NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
|
|
|
|
NM_000531.6(OTC):c.933G>A (p.Val311=)
|
rs2147346566
|
|
|
NM_000531.6(OTC):c.93A>G (p.Leu31=)
|
|
|
|
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
|
|
|
|
NM_000531.6(OTC):c.944T>A (p.Val315Asp)
|
rs67414444
|
|
|
NM_000531.6(OTC):c.944T>G (p.Val315Gly)
|
rs67414444
|
|
|
NM_000531.6(OTC):c.945C>G (p.Val315=)
|
|
|
|
NM_000531.6(OTC):c.951T>C (p.Tyr317=)
|
|
|
|
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del)
|
rs1555976710
|
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
|
NM_000531.6(OTC):c.959G>A (p.Arg320Gln)
|
rs72558474
|
|
|
NM_000531.6(OTC):c.959G>C (p.Arg320Pro)
|
rs72558474
|
|
|
NM_000531.6(OTC):c.959G>T (p.Arg320Leu)
|
rs72558474
|
|
|
NM_000531.6(OTC):c.972C>T (p.Phe324=)
|
|
|
|
NM_000531.6(OTC):c.975A>C (p.Pro325=)
|
|
|
|
NM_000531.6(OTC):c.975A>G (p.Pro325=)
|
|
|
|
NM_000531.6(OTC):c.976G>A (p.Glu326Lys)
|
rs72558476
|
|
|
NM_000531.6(OTC):c.987C>T (p.Asn329=)
|
rs2068546163
|
|
|
NM_000531.6(OTC):c.988A>G (p.Arg330Gly)
|
rs72558478
|
|
|
NM_000531.6(OTC):c.990A>G (p.Arg330=)
|
|
|
|
NM_000531.6(OTC):c.999A>C (p.Thr333=)
|
|
|
|
NM_000532.5(PCCB):c.-8_12del (p.Met1fs)
|
rs2108127602
|
|
|
NM_000532.5(PCCB):c.1002C>A (p.Pro334=)
|
rs370304541
|
|
|
NM_000532.5(PCCB):c.1004A>G (p.Asn335Ser)
|
|
|
|
NM_000532.5(PCCB):c.1006T>A (p.Tyr336Asn)
|
|
|
|
NM_000532.5(PCCB):c.1008T>G (p.Tyr336Ter)
|
|
|
|
NM_000532.5(PCCB):c.1013A>C (p.Lys338Thr)
|
|
|
|
NM_000532.5(PCCB):c.1015A>G (p.Asn339Asp)
|
rs1934921365
|
|
|
NM_000532.5(PCCB):c.1017C>T (p.Asn339=)
|
rs764080368
|
|
|
NM_000532.5(PCCB):c.1020C>T (p.Ile340=)
|
rs2108226621
|
|
|
NM_000532.5(PCCB):c.1021A>G (p.Ile341Val)
|
|
|
|
NM_000532.5(PCCB):c.1022TTG[1] (p.Val342del)
|
|
|
|
NM_000532.5(PCCB):c.1027_1028dup (p.Phe344fs)
|
rs2108226643
|
|
|
NM_000532.5(PCCB):c.102T>C (p.Ser34=)
|
|
|
|
NM_000532.5(PCCB):c.1032T>C (p.Phe344=)
|
|
|
|
NM_000532.5(PCCB):c.1035A>G (p.Ala345=)
|
|
|
|
NM_000532.5(PCCB):c.1037G>A (p.Arg346Lys)
|
|
|
|
NM_000532.5(PCCB):c.1039A>T (p.Met347Leu)
|
|
|
|
NM_000532.5(PCCB):c.1043_1044del (p.Asn348fs)
|
rs2108226666
|
|
|
NM_000532.5(PCCB):c.1044T>C (p.Asn348=)
|
|
|
|
NM_000532.5(PCCB):c.1047G>A (p.Gly349=)
|
rs2108226680
|
|
|
NM_000532.5(PCCB):c.105dup (p.Asn36Ter)
|
rs2108127935
|
|
|
NM_000532.5(PCCB):c.1068C>T (p.Gly356=)
|
rs980116020
|
|
|
NM_000532.5(PCCB):c.106A>C (p.Asn36His)
|
|
|
|
NM_000532.5(PCCB):c.1077T>C (p.Pro359=)
|
|
|
|
NM_000532.5(PCCB):c.1080G>A (p.Lys360=)
|
|
|
|
NM_000532.5(PCCB):c.1086C>T (p.Ala362=)
|
rs748740009
|
|
|
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu)
|
rs2108226720
|
|
|
NM_000532.5(PCCB):c.1090+11G>A
|
|
|
|
NM_000532.5(PCCB):c.1090+13T>C
|
|
|
|
NM_000532.5(PCCB):c.1090+13_1090+16del
|
|
|
|
NM_000532.5(PCCB):c.1090+15_1090+16dup
|
|
|
|
NM_000532.5(PCCB):c.1090+17A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+17A>T
|
|
|
|
NM_000532.5(PCCB):c.1090+17dup
|
|
|
|
NM_000532.5(PCCB):c.1090+19A>G
|
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
|
NM_000532.5(PCCB):c.1090+3A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+6A>C
|
|
|
|
NM_000532.5(PCCB):c.1090+7T>C
|
rs2108226731
|
|
|
NM_000532.5(PCCB):c.1090+8G>A
|
rs2108226738
|
|
|
NM_000532.5(PCCB):c.1090_1090+1insTC
|
|
|
|
NM_000532.5(PCCB):c.1091-12C>G
|
|
|
|
NM_000532.5(PCCB):c.1091-12C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-14C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-15TC[3]
|
|
|
|
NM_000532.5(PCCB):c.1091-16_1091-14del
|
|
|
|
NM_000532.5(PCCB):c.1091-19A>G
|
|
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
|
NM_000532.5(PCCB):c.1091-4C>T
|
rs759283485
|
|
|
NM_000532.5(PCCB):c.1091-6_1091-3del
|
rs767794302
|
|
|
NM_000532.5(PCCB):c.1091-8C>T
|
|
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
|
NM_000532.5(PCCB):c.1091-9T>C
|
|
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
|
NM_000532.5(PCCB):c.10del (p.Ala4fs)
|
|
|
|
NM_000532.5(PCCB):c.1119A>G (p.Lys373=)
|
rs2108237811
|
|
|
NM_000532.5(PCCB):c.1123_1124delinsCT (p.Ala375Leu)
|
|
|
|
NM_000532.5(PCCB):c.1124C>T (p.Ala375Val)
|
rs1576360099
|
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
|
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys)
|
rs200306164
|
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
|
NM_000532.5(PCCB):c.1131dup (p.Val378fs)
|
|
|
|
NM_000532.5(PCCB):c.1132G>C (p.Val378Leu)
|
rs761529521
|
|
|
NM_000532.5(PCCB):c.1132G>T (p.Val378Phe)
|
rs761529521
|
|
|
NM_000532.5(PCCB):c.1134C>A (p.Val378=)
|
|
|
|
NM_000532.5(PCCB):c.1143T>A (p.Cys381Ter)
|
|
|
|
NM_000532.5(PCCB):c.1143_1144dup (p.Asp382fs)
|
rs1307858265
|
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
|
NM_000532.5(PCCB):c.1146T>C (p.Asp382=)
|
rs2108237867
|
|
|
NM_000532.5(PCCB):c.1149A>T (p.Ala383=)
|
rs1303454039
|
|
|
NM_000532.5(PCCB):c.1155T>C (p.Asn385=)
|
|
|
|
NM_000532.5(PCCB):c.115A>G (p.Ile39Val)
|
rs1208205672
|
|
|
NM_000532.5(PCCB):c.1164C>T (p.Leu388=)
|
|
|
|
NM_000532.5(PCCB):c.1165A>T (p.Ile389Phe)
|
|
|
|
NM_000532.5(PCCB):c.1166T>A (p.Ile389Asn)
|
rs2108237886
|
|
|
NM_000532.5(PCCB):c.1167C>A (p.Ile389=)
|
|
|
|
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile)
|
rs201880353
|
|
|
NM_000532.5(PCCB):c.116T>G (p.Ile39Ser)
|
|
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
|
NM_000532.5(PCCB):c.1172_1173del (p.Phe391fs)
|
rs587776758
|
|
|
NM_000532.5(PCCB):c.1173dup (p.Val392fs)
|
rs587776758
|
|
|
NM_000532.5(PCCB):c.1182C>T (p.Val394=)
|
|
|
|
NM_000532.5(PCCB):c.1194A>C (p.Leu398=)
|
|
|
|
NM_000532.5(PCCB):c.1194A>G (p.Leu398=)
|
rs767647079
|
|
|
NM_000532.5(PCCB):c.1195C>T (p.Pro399Ser)
|
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
|
NM_000532.5(PCCB):c.1198+12A>G
|
|
|
|
NM_000532.5(PCCB):c.1198+13C>T
|
|
|
|
NM_000532.5(PCCB):c.1198+14A>G
|
|
|
|
NM_000532.5(PCCB):c.1198+17G>A
|
|
|
|
NM_000532.5(PCCB):c.1198+18T>G
|
|
|
|
NM_000532.5(PCCB):c.1198+18dup
|
|
|
|
NM_000532.5(PCCB):c.1198+19G>C
|
|
|
|
NM_000532.5(PCCB):c.1198+19G>T
|
|
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
|
NM_000532.5(PCCB):c.1199-15C>G
|
|
|
|
NM_000532.5(PCCB):c.1199-15C>T
|
|
|
|
NM_000532.5(PCCB):c.1199-17C>T
|
|
|
|
NM_000532.5(PCCB):c.1199-18dup
|
rs2108238321
|
|
|
NM_000532.5(PCCB):c.1199-1G>C
|
|
|
|
NM_000532.5(PCCB):c.1199-20T>G
|
|
|
|
NM_000532.5(PCCB):c.1199-2A>G
|
|
|
|
NM_000532.5(PCCB):c.1199-4C>G
|
|
|
|
NM_000532.5(PCCB):c.1199-5T>C
|
|
|
|
NM_000532.5(PCCB):c.1199-7T>C
|
|
|
|
NM_000532.5(PCCB):c.1199-9C>T
|
|
|
|
NM_000532.5(PCCB):c.119A>G (p.Glu40Gly)
|
|
|
|
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)
|
rs777359703
|
|
|
NM_000532.5(PCCB):c.1202C>A (p.Thr401Lys)
|
rs371610471
|
|
|
NM_000532.5(PCCB):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_000532.5(PCCB):c.1207C>G (p.Gln403Glu)
|
|
|
|
NM_000532.5(PCCB):c.1210G>A (p.Glu404Lys)
|
rs777027944
|
|
|
NM_000532.5(PCCB):c.1214dup (p.Tyr405Ter)
|
rs2108238365
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
|
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
|
|
|
|
NM_000532.5(PCCB):c.1220G>T (p.Gly407Val)
|
|
|
|
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
|
|
|
|
NM_000532.5(PCCB):c.1223_1226del (p.Ile408fs)
|
|
|
|
NM_000532.5(PCCB):c.1228C>A (p.Arg410=)
|
rs121964959
|
|
|
NM_000532.5(PCCB):c.1231C>A (p.His411Asn)
|
|
|
|
NM_000532.5(PCCB):c.1235G>A (p.Gly412Asp)
|
rs994386938
|
|
|
NM_000532.5(PCCB):c.1242G>A (p.Lys414=)
|
rs780048274
|
|
|
NM_000532.5(PCCB):c.1248C>G (p.Leu416=)
|
|
|
|
NM_000532.5(PCCB):c.1248C>T (p.Leu416=)
|
rs747022334
|
|
|
NM_000532.5(PCCB):c.1252G>A (p.Ala418Thr)
|
|
|
|
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
|
|
|
|
NM_000532.5(PCCB):c.1254A>G (p.Ala418=)
|
|
|
|
NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
|
rs1553784569
|
|
|
NM_000532.5(PCCB):c.1267A>G (p.Thr423Ala)
|
|
|
|
NM_000532.5(PCCB):c.1269T>A (p.Thr423=)
|
rs2108238461
|
|
|
NM_000532.5(PCCB):c.1274C>T (p.Pro425Leu)
|
|
|
|
NM_000532.5(PCCB):c.1275del (p.Val427fs)
|
rs2108238464
|
|
|
NM_000532.5(PCCB):c.127C>T (p.Arg43Cys)
|
rs1031941989
|
|
|
NM_000532.5(PCCB):c.1281C>G (p.Val427=)
|
|
|
|
NM_000532.5(PCCB):c.1283_1284del (p.Thr428fs)
|
rs775583360
|
|
|
NM_000532.5(PCCB):c.1287C>A (p.Val429=)
|
rs2108238489
|
|
|
NM_000532.5(PCCB):c.1287C>G (p.Val429=)
|
rs2108238489
|
|
|
NM_000532.5(PCCB):c.1288_1299+5del
|
rs1250541852
|
|
|
NM_000532.5(PCCB):c.1293C>T (p.Thr431=)
|
rs1474177341
|
|
|
NM_000532.5(PCCB):c.1299+12A>G
|
rs751610521
|
|
|
NM_000532.5(PCCB):c.1299+19A>C
|
|
|
|
NM_000532.5(PCCB):c.1299+5G>A
|
|
|
|
NM_000532.5(PCCB):c.1299+7A>T
|
|
|
|
NM_000532.5(PCCB):c.1299+9C>T
|
|
|
|
NM_000532.5(PCCB):c.129C>T (p.Arg43=)
|
|
|
|
NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)
|
rs1553773148
|
|
|
NM_000532.5(PCCB):c.1300-12G>T
|
|
|
|
NM_000532.5(PCCB):c.1300-13G>A
|
rs1320397998
|
|
|
NM_000532.5(PCCB):c.1300-18C>T
|
|
|
|
NM_000532.5(PCCB):c.1300-19G>A
|
|
|
|
NM_000532.5(PCCB):c.1300-1G>A
|
|
|
|
NM_000532.5(PCCB):c.1300-1G>C
|
|
|
|
NM_000532.5(PCCB):c.1300-4T>A
|
rs1935372420
|
|
|
NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
|
|
|
|
NM_000532.5(PCCB):c.130C>G (p.Arg44Gly)
|
rs749210374
|
|
|
NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
|
|
|
|
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
|
|
|
|
NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
|
|
|
|
NM_000532.5(PCCB):c.1329C>T (p.Ser443=)
|
|
|
|
NM_000532.5(PCCB):c.132G>C (p.Arg44=)
|
|
|
|
NM_000532.5(PCCB):c.132G>T (p.Arg44=)
|
|
|
|
NM_000532.5(PCCB):c.1348G>A (p.Asp450Asn)
|
|
|
|
NM_000532.5(PCCB):c.134C>G (p.Thr45Ser)
|
|
|
|
NM_000532.5(PCCB):c.1350T>C (p.Asp450=)
|
rs1935374974
|
|
|
NM_000532.5(PCCB):c.1353_1356del (p.Asn452fs)
|
|
|
|
NM_000532.5(PCCB):c.1356C>G (p.Asn452Lys)
|
rs1455298516
|
|
|
NM_000532.5(PCCB):c.1356C>T (p.Asn452=)
|
rs1455298516
|
|
|
NM_000532.5(PCCB):c.1358A>G (p.Tyr453Cys)
|
|
|
|
NM_000532.5(PCCB):c.135C>A (p.Thr45=)
|
rs1576397628
|
|
|
NM_000532.5(PCCB):c.135C>G (p.Thr45=)
|
|
|
|
NM_000532.5(PCCB):c.135_148del (p.Ala46fs)
|
|
|
|
NM_000532.5(PCCB):c.1361C>A (p.Ala454Asp)
|
|
|
|
NM_000532.5(PCCB):c.1361_1364del (p.Ala454fs)
|
rs2108239069
|
|
|
NM_000532.5(PCCB):c.136_139delinsCCT (p.Ala46fs)
|
rs1576397633
|
|
|
NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
|
rs1553784721
|
|
|
NM_000532.5(PCCB):c.1386C>A (p.Val462=)
|
|
|
|
NM_000532.5(PCCB):c.1386C>T (p.Val462=)
|
|
|
|
NM_000532.5(PCCB):c.138G>A (p.Ala46=)
|
rs145075817
|
|
|
NM_000532.5(PCCB):c.1393G>A (p.Ala465Thr)
|
rs774232001
|
|
|
NM_000532.5(PCCB):c.1395A>G (p.Ala465=)
|
|
|
|
NM_000532.5(PCCB):c.1395_1398+8del
|
|
|
|
NM_000532.5(PCCB):c.1398+11C>G
|
|
|
|
NM_000532.5(PCCB):c.1398+15C>T
|
|
|
|
NM_000532.5(PCCB):c.1398+16T>G
|
|
|
|
NM_000532.5(PCCB):c.1398+18T>C
|
|
|
|
NM_000532.5(PCCB):c.1398+1G>A
|
|
|
|
NM_000532.5(PCCB):c.1398+1G>C
|
|
|
|
NM_000532.5(PCCB):c.1398+2del
|
rs2108239135
|
|
|
NM_000532.5(PCCB):c.1398+3G>A
|
rs767511434
|
|
|
NM_000532.5(PCCB):c.1398+8C>T
|
|
|
|
NM_000532.5(PCCB):c.1398+9C>T
|
rs2108239140
|
|
|
NM_000532.5(PCCB):c.1399-12_1399-10del
|
|
|
|
NM_000532.5(PCCB):c.1399-5C>G
|
|
|
|
NM_000532.5(PCCB):c.1399-8A>G
|
|
|
|
NM_000532.5(PCCB):c.139C>A (p.Leu47Met)
|
|
|
|
NM_000532.5(PCCB):c.13T>C (p.Leu5=)
|
rs1559991921
|
|
|
NM_000532.5(PCCB):c.1400G>C (p.Gly467Ala)
|
rs2108240251
|
|
|
NM_000532.5(PCCB):c.1402G>T (p.Ala468Ser)
|
|
|
|
NM_000532.5(PCCB):c.1404T>C (p.Ala468=)
|
|
|
|
NM_000532.5(PCCB):c.140T>G (p.Leu47Arg)
|
|
|
|
NM_000532.5(PCCB):c.1410G>A (p.Glu470=)
|
|
|
|
NM_000532.5(PCCB):c.141G>A (p.Leu47=)
|
rs1378807952
|
|
|
NM_000532.5(PCCB):c.1422A>G (p.Lys474=)
|
|
|
|
NM_000532.5(PCCB):c.1422del (p.His476fs)
|
rs2108240287
|
|
|
NM_000532.5(PCCB):c.1425G>T (p.Gly475=)
|
|
|
|
NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
|
rs1553784921
|
|
|
NM_000532.5(PCCB):c.1433_1436dup (p.Glu480fs)
|
rs1576361811
|
|
|
NM_000532.5(PCCB):c.1446T>C (p.Ala482=)
|
rs1233276940
|
|
|
NM_000532.5(PCCB):c.144G>A (p.Leu48=)
|
|
|
|
NM_000532.5(PCCB):c.144G>C (p.Leu48=)
|
rs1462411928
|
|
|
NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
|
rs781556055
|
|
|
NM_000532.5(PCCB):c.1461C>T (p.Ile487=)
|
rs778676531
|
|
|
NM_000532.5(PCCB):c.1462G>C (p.Glu488Gln)
|
|
|
|
NM_000532.5(PCCB):c.1465A>T (p.Lys489Ter)
|
|
|
|
NM_000532.5(PCCB):c.1470T>C (p.Phe490=)
|
|
|
|
NM_000532.5(PCCB):c.1473C>G (p.Ala491=)
|
|
|
|
NM_000532.5(PCCB):c.1473C>T (p.Ala491=)
|
rs1428860331
|
|
|
NM_000532.5(PCCB):c.1475A>G (p.Asn492Ser)
|
|
|
|
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
|
|
|
|
NM_000532.5(PCCB):c.1482C>G (p.Phe494Leu)
|
rs1179000221
|
|
|
NM_000532.5(PCCB):c.1482C>T (p.Phe494=)
|
rs1179000221
|
|
|
NM_000532.5(PCCB):c.1489G>A (p.Ala497Thr)
|
|
|
|
NM_000532.5(PCCB):c.1490C>G (p.Ala497Gly)
|
|
|
|
NM_000532.5(PCCB):c.1491A>C (p.Ala497=)
|
|
|
|
NM_000532.5(PCCB):c.1496G>T (p.Arg499Leu)
|
|
|
|
NM_000532.5(PCCB):c.1498+10T>C
|
rs777201996
|
|
|
NM_000532.5(PCCB):c.1498+12T>C
|
|
|
|
NM_000532.5(PCCB):c.1498+12_1498+13del
|
rs770922237
|
|
|
NM_000532.5(PCCB):c.1498+14G>A
|
|
|
|
NM_000532.5(PCCB):c.1498+15T>C
|
|
|
|
NM_000532.5(PCCB):c.1498+2T>C
|
rs879253816
|
|
|
NM_000532.5(PCCB):c.1498+8A>G
|
rs2108240447
|
|
|
NM_000532.5(PCCB):c.1498+9C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-10G>T
|
|
|
|
NM_000532.5(PCCB):c.1499-19C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-4C>T
|
|
|
|
NM_000532.5(PCCB):c.1499-9C>T
|
|
|
|
NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
|
rs1292452485
|
|
|
NM_000532.5(PCCB):c.150G>A (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.150G>C (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.150G>T (p.Gly50=)
|
|
|
|
NM_000532.5(PCCB):c.1514T>A (p.Ile505Asn)
|
|
|
|
NM_000532.5(PCCB):c.1515C>T (p.Ile505=)
|
rs2108241650
|
|
|
NM_000532.5(PCCB):c.1518C>G (p.Ile506Met)
|
|
|
|
NM_000532.5(PCCB):c.1518C>T (p.Ile506=)
|
|
|
|
NM_000532.5(PCCB):c.1519C>T (p.Gln507Ter)
|
rs2108241656
|
|
|
NM_000532.5(PCCB):c.151G>A (p.Gly51Ser)
|
|
|
|
NM_000532.5(PCCB):c.1520A>G (p.Gln507Arg)
|
rs886058020
|
|
|
NM_000532.5(PCCB):c.1524T>G (p.Pro508=)
|
|
|
|
NM_000532.5(PCCB):c.152dup (p.Gln52fs)
|
rs1941483338
|
|
|
NM_000532.5(PCCB):c.1531A>C (p.Thr511Pro)
|
|
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
|
NM_000532.5(PCCB):c.1539C>G (p.Ala513=)
|
rs2108241686
|
|
|
NM_000532.5(PCCB):c.1539C>T (p.Ala513=)
|
rs2108241686
|
|
|
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
|
rs749908889
|
|
|
NM_000532.5(PCCB):c.1542A>C (p.Arg514=)
|
rs1337219671
|
|
|
NM_000532.5(PCCB):c.1555C>G (p.Leu519Val)
|
rs1935481576
|
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
|
NM_000532.5(PCCB):c.1564T>C (p.Leu522=)
|
rs2108241717
|
|
|
NM_000532.5(PCCB):c.1566G>A (p.Leu522=)
|
|
|
|
NM_000532.5(PCCB):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_000532.5(PCCB):c.1570A>G (p.Ser524Gly)
|
rs1560035695
|
|
|
NM_000532.5(PCCB):c.1572C>G (p.Ser524Arg)
|
rs2108241736
|
|
|
NM_000532.5(PCCB):c.1574A>G (p.Lys525Arg)
|
|
|
|
NM_000532.5(PCCB):c.1582C>T (p.Gln528Ter)
|
rs1935482553
|
|
|
NM_000532.5(PCCB):c.1584A>G (p.Gln528=)
|
|
|
|
NM_000532.5(PCCB):c.1586G>A (p.Arg529His)
|
|
|
|
NM_000532.5(PCCB):c.1587T>C (p.Arg529=)
|
|
|
|
NM_000532.5(PCCB):c.158G>A (p.Arg53His)
|
|
|
|
NM_000532.5(PCCB):c.1591T>G (p.Trp531Gly)
|
rs1284814283
|
|
|
NM_000532.5(PCCB):c.159C>T (p.Arg53=)
|
rs776900764
|
|
|
NM_000532.5(PCCB):c.1605A>G (p.Ala535=)
|
|
|
|
NM_000532.5(PCCB):c.1609_1610del (p.Ile537fs)
|
|
|
|
NM_000532.5(PCCB):c.1610T>A (p.Ile537Asn)
|
rs759733016
|
|
|
NM_000532.5(PCCB):c.1611T>A (p.Ile537=)
|
rs2108241808
|
|
|
NM_000532.5(PCCB):c.1612C>T (p.Pro538Ser)
|
rs775930817
|
|
|
NM_000532.5(PCCB):c.1615T>C (p.Leu539=)
|
|
|
|
NM_000532.5(PCCB):c.161G>A (p.Arg54His)
|
|
|
|
NM_000532.5(PCCB):c.164T>C (p.Ile55Thr)
|
rs765790211
|
|
|
NM_000532.5(PCCB):c.165T>C (p.Ile55=)
|
|
|
|
NM_000532.5(PCCB):c.166G>T (p.Asp56Tyr)
|
|
|
|
NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
|
|
|
|
NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)
|
|
|
|
NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)
|
rs377681768
|
|
|
NM_000532.5(PCCB):c.170C>T (p.Ala57Val)
|
|
|
|
NM_000532.5(PCCB):c.171G>T (p.Ala57=)
|
rs1168077273
|
|
|
NM_000532.5(PCCB):c.174G>A (p.Gln58=)
|
rs1576397701
|
|
|
NM_000532.5(PCCB):c.174_175delinsTA (p.Gln58_His59delinsHisAsn)
|
rs2108128131
|
|
|
NM_000532.5(PCCB):c.175C>A (p.His59Asn)
|
|
|
|
NM_000532.5(PCCB):c.175C>T (p.His59Tyr)
|
|
|
|
NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)
|
rs767965814
|
|
|
NM_000532.5(PCCB):c.180_181delinsTT (p.Lys60_Arg61delinsAsnTer)
|
rs2108128163
|
|
|
NM_000532.5(PCCB):c.183+11_183+30dup
|
rs1205510892
|
|
|
NM_000532.5(PCCB):c.183+12G>A
|
|
|
|
NM_000532.5(PCCB):c.183+13G>A
|
|
|
|
NM_000532.5(PCCB):c.183+14G>A
|
|
|
|
NM_000532.5(PCCB):c.183+15G>A
|
|
|
|
NM_000532.5(PCCB):c.183+15G>C
|
|
|
|
NM_000532.5(PCCB):c.183+15G>T
|
|
|
|
NM_000532.5(PCCB):c.183+15del
|
|
|
|
NM_000532.5(PCCB):c.183+16C>T
|
|
|
|
NM_000532.5(PCCB):c.183+17C>A
|
|
|
|
NM_000532.5(PCCB):c.183+18T>C
|
|
|
|
NM_000532.5(PCCB):c.183+19A>C
|
|
|
|
NM_000532.5(PCCB):c.183+19A>G
|
rs2108128256
|
|
|
NM_000532.5(PCCB):c.183+19_183+22del
|
rs2108128253
|
|
|
NM_000532.5(PCCB):c.183+1G>A
|
rs398123460
|
|
|
NM_000532.5(PCCB):c.183+1G>C
|
|
|
|
NM_000532.5(PCCB):c.183+21_183+46del
|
|
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
|
NM_000532.5(PCCB):c.183+3_183+6del
|
|
|
|
NM_000532.5(PCCB):c.183+5G>A
|
rs879253813
|
|
|
NM_000532.5(PCCB):c.183+5G>C
|
|
|
|
NM_000532.5(PCCB):c.183+7C>T
|
rs1039491317
|
|
|
NM_000532.5(PCCB):c.183+8C>T
|
rs780042796
|
|
|
NM_000532.5(PCCB):c.183+9T>C
|
rs2108128200
|
|
|
NM_000532.5(PCCB):c.183+9_183+28del
|
|
|
|
NM_000532.5(PCCB):c.184-12G>A
|
|
|
|
NM_000532.5(PCCB):c.184-16C>T
|
|
|
|
NM_000532.5(PCCB):c.184-5T>C
|
|
|
|
NM_000532.5(PCCB):c.184-7A>G
|
rs1941659337
|
|
|
NM_000532.5(PCCB):c.184-7A>T
|
rs1941659337
|
|
|
NM_000532.5(PCCB):c.184-8C>T
|
|
|
|
NM_000532.5(PCCB):c.184-8del
|
|
|
|
NM_000532.5(PCCB):c.184-9C>T
|
rs2108137236
|
|
|
NM_000532.5(PCCB):c.185G>C (p.Gly62Ala)
|
rs886058017
|
|
|
NM_000532.5(PCCB):c.187_203del
|
rs2108137253
|
|
|
NM_000532.5(PCCB):c.189G>A (p.Lys63=)
|
|
|
|
NM_000532.5(PCCB):c.18G>A (p.Arg6=)
|
|
|
|
NM_000532.5(PCCB):c.18G>C (p.Arg6=)
|
rs2108127702
|
|
|
NM_000532.5(PCCB):c.18G>T (p.Arg6=)
|
rs2108127702
|
|
|
NM_000532.5(PCCB):c.192A>G (p.Leu64=)
|
|
|
|
NM_000532.5(PCCB):c.197C>T (p.Ala66Val)
|
rs2108137275
|
|
|
NM_000532.5(PCCB):c.199A>G (p.Arg67Gly)
|
|
|
|
NM_000532.5(PCCB):c.19G>T (p.Val7Leu)
|
|
|
|
NM_000532.5(PCCB):c.202G>A (p.Glu68Lys)
|
rs2108137296
|
|
|
NM_000532.5(PCCB):c.210C>G (p.Ile70Met)
|
|
|
|
NM_000532.5(PCCB):c.210C>T (p.Ile70=)
|
rs1195573163
|
|
|
NM_000532.5(PCCB):c.211A>G (p.Ser71Gly)
|
|
|
|
NM_000532.5(PCCB):c.216C>A (p.Leu72=)
|
|
|
|
NM_000532.5(PCCB):c.216C>T (p.Leu72=)
|
rs2108137325
|
|
|
NM_000532.5(PCCB):c.217T>C (p.Leu73=)
|
rs1941660630
|
|
|
NM_000532.5(PCCB):c.21G>A (p.Val7=)
|
rs1404763021
|
|
|
NM_000532.5(PCCB):c.21G>C (p.Val7=)
|
rs1404763021
|
|
|
NM_000532.5(PCCB):c.221T>C (p.Leu74Pro)
|
|
|
|
NM_000532.5(PCCB):c.223G>T (p.Asp75Tyr)
|
rs2108137332
|
|
|
NM_000532.5(PCCB):c.231C>G (p.Gly77=)
|
|
|
|
NM_000532.5(PCCB):c.231C>T (p.Gly77=)
|
rs2108137338
|
|
|
NM_000532.5(PCCB):c.235T>G (p.Phe79Val)
|
|
|
|
NM_000532.5(PCCB):c.237T>C (p.Phe79=)
|
|
|
|
NM_000532.5(PCCB):c.247G>A (p.Asp83Asn)
|
|
|
|
NM_000532.5(PCCB):c.249C>T (p.Asp83=)
|
rs1941661486
|
|
|
NM_000532.5(PCCB):c.24G>A (p.Ala8=)
|
|
|
|
NM_000532.5(PCCB):c.261A>G (p.Glu87=)
|
|
|
|
NM_000532.5(PCCB):c.273A>C (p.Ala91=)
|
|
|
|
NM_000532.5(PCCB):c.273A>G (p.Ala91=)
|
|
|
|
NM_000532.5(PCCB):c.274G>C (p.Asp92His)
|
rs2108137411
|
|
|
NM_000532.5(PCCB):c.275A>G (p.Asp92Gly)
|
|
|
|
NM_000532.5(PCCB):c.27G>C (p.Ala9=)
|
rs1402404407
|
|
|
NM_000532.5(PCCB):c.27G>T (p.Ala9=)
|
|
|
|
NM_000532.5(PCCB):c.283A>G (p.Met95Val)
|
rs1941662476
|
|
|
NM_000532.5(PCCB):c.293A>C (p.Asp98Ala)
|
rs915881293
|
|
|
NM_000532.5(PCCB):c.298_303del (p.Asn100_Lys101del)
|
rs763485353
|
|
|
NM_000532.5(PCCB):c.2T>C (p.Met1Thr)
|
rs398123462
|
|
|
NM_000532.5(PCCB):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)
|
|
|
|
NM_000532.5(PCCB):c.303+13A>C
|
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|
NM_000532.5(PCCB):c.303+15G>A
|
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|
NM_000532.5(PCCB):c.303+18G>A
|
|
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|
NM_000532.5(PCCB):c.303+19_303+21del
|
rs1338554743
|
|
|
NM_000532.5(PCCB):c.303+1G>T
|
rs1941662983
|
|
|
NM_000532.5(PCCB):c.303+7G>A
|
rs747794871
|
|
|
NM_000532.5(PCCB):c.304-10T>C
|
|
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|
NM_000532.5(PCCB):c.304-13A>G
|
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|
NM_000532.5(PCCB):c.304-14C>T
|
|
|
|
NM_000532.5(PCCB):c.304-16del
|
|
|
|
NM_000532.5(PCCB):c.304-1G>A
|
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|
|
NM_000532.5(PCCB):c.304-20T>C
|
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|
|
NM_000532.5(PCCB):c.304-20T>G
|
|
|
|
NM_000532.5(PCCB):c.304-2A>G
|
|
|
|
NM_000532.5(PCCB):c.304-4G>T
|
rs1178341565
|
|
|
NM_000532.5(PCCB):c.304-5G>C
|
rs2108138190
|
|
|
NM_000532.5(PCCB):c.304-6T>C
|
rs1941675458
|
|
|
NM_000532.5(PCCB):c.304-8dup
|
|
|
|
NM_000532.5(PCCB):c.304-9T>C
|
rs772699339
|
|
|
NM_000532.5(PCCB):c.306T>C (p.Phe102=)
|
rs770601332
|
|
|
NM_000532.5(PCCB):c.30C>A (p.Val10=)
|
rs754303318
|
|
|
NM_000532.5(PCCB):c.30C>G (p.Val10=)
|
rs754303318
|
|
|
NM_000532.5(PCCB):c.315C>T (p.Asp105=)
|
|
|
|
NM_000532.5(PCCB):c.319G>A (p.Val107Met)
|
rs1553774114
|
|
|
NM_000532.5(PCCB):c.321G>A (p.Val107=)
|
|
|
|
NM_000532.5(PCCB):c.324C>G (p.Val108=)
|
|
|
|
NM_000532.5(PCCB):c.327T>C (p.Thr109=)
|
rs2108138226
|
|
|
NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
|
rs1941676220
|
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
|
NM_000532.5(PCCB):c.336C>T (p.Gly112=)
|
|
|
|
NM_000532.5(PCCB):c.342C>A (p.Ile114=)
|
|
|
|
NM_000532.5(PCCB):c.344A>G (p.Asn115Ser)
|
rs2108138282
|
|
|
NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)
|
|
|
|
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
|
rs1257439275
|
|
|
NM_000532.5(PCCB):c.360T>C (p.Tyr120=)
|
rs1198278808
|
|
|
NM_000532.5(PCCB):c.368G>T (p.Ser123Ile)
|
rs1941677490
|
|
|
NM_000532.5(PCCB):c.369_372del (p.Ser123fs)
|
|
|
|
NM_000532.5(PCCB):c.372+12C>T
|
|
|
|
NM_000532.5(PCCB):c.372+14C>G
|
|
|
|
NM_000532.5(PCCB):c.372+15C>A
|
|
|
|
NM_000532.5(PCCB):c.372+18T>C
|
|
|
|
NM_000532.5(PCCB):c.372+1G>A
|
|
|
|
NM_000532.5(PCCB):c.372+2T>C
|
rs879253814
|
|
|
NM_000532.5(PCCB):c.372+4T>C
|
|
|
|
NM_000532.5(PCCB):c.373-17T>A
|
|
|
|
NM_000532.5(PCCB):c.373-1G>C
|
rs2108144374
|
|
|
NM_000532.5(PCCB):c.373-5T>C
|
|
|
|
NM_000532.5(PCCB):c.373-8C>G
|
|
|
|
NM_000532.5(PCCB):c.381A>G (p.Thr127=)
|
|
|
|
NM_000532.5(PCCB):c.384T>G (p.Val128=)
|
rs1169839469
|
|
|
NM_000532.5(PCCB):c.386delinsAA (p.Phe129Ter)
|
|
|
|
NM_000532.5(PCCB):c.387T>C (p.Phe129=)
|
rs1576405957
|
|
|
NM_000532.5(PCCB):c.392G>A (p.Gly131Asp)
|
|
|
|
NM_000532.5(PCCB):c.393C>T (p.Gly131=)
|
rs2108144426
|
|
|
NM_000532.5(PCCB):c.394A>G (p.Ser132Gly)
|
|
|
|
NM_000532.5(PCCB):c.397C>T (p.Leu133=)
|
rs1941791843
|
|
|
NM_000532.5(PCCB):c.39G>A (p.Arg13=)
|
|
|
|
NM_000532.5(PCCB):c.404G>T (p.Gly135Val)
|
|
|
|
NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)
|
|
|
|
NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)
|
rs1215705998
|
|
|
NM_000532.5(PCCB):c.414C>G (p.Ala138=)
|
rs781142631
|
|
|
NM_000532.5(PCCB):c.415C>T (p.Gln139Ter)
|
|
|
|
NM_000532.5(PCCB):c.417A>G (p.Gln139=)
|
|
|
|
NM_000532.5(PCCB):c.420_421dup (p.Ile141fs)
|
rs1941792521
|
|
|
NM_000532.5(PCCB):c.423C>A (p.Ile141=)
|
rs2108144487
|
|
|
NM_000532.5(PCCB):c.427A>T (p.Lys143Ter)
|
|
|
|
NM_000532.5(PCCB):c.429+11A>C
|
|
|
|
NM_000532.5(PCCB):c.429+15C>T
|
|
|
|
NM_000532.5(PCCB):c.429+17C>A
|
|
|
|
NM_000532.5(PCCB):c.429+17C>T
|
|
|
|
NM_000532.5(PCCB):c.429+1G>A
|
rs1317017233
|
|
|
NM_000532.5(PCCB):c.429+20A>G
|
rs1282306131
|
|
|
NM_000532.5(PCCB):c.429+20A>T
|
|
|
|
NM_000532.5(PCCB):c.429+8T>C
|
rs2108144514
|
|
|
NM_000532.5(PCCB):c.429+9T>G
|
|
|
|
NM_000532.5(PCCB):c.42C>G (p.Leu14=)
|
|
|
|
NM_000532.5(PCCB):c.42C>T (p.Leu14=)
|
rs2108127783
|
|
|
NM_000532.5(PCCB):c.430-12C>T
|
|
|
|
NM_000532.5(PCCB):c.430-13T>G
|
|
|
|
NM_000532.5(PCCB):c.430-14C>A
|
|
|
|
NM_000532.5(PCCB):c.430-14C>G
|
rs1320752306
|
|
|
NM_000532.5(PCCB):c.430-17T>C
|
|
|
|
NM_000532.5(PCCB):c.430-17T>G
|
rs2108146563
|
|
|
NM_000532.5(PCCB):c.430-18A>T
|
|
|
|
NM_000532.5(PCCB):c.430-19G>A
|
|
|
|
NM_000532.5(PCCB):c.430-9C>T
|
|
|
|
NM_000532.5(PCCB):c.430A>G (p.Ile144Val)
|
|
|
|
NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
|
rs2108146615
|
|
|
NM_000532.5(PCCB):c.438C>T (p.Asp146=)
|
|
|
|
NM_000532.5(PCCB):c.439C>T (p.Gln147Ter)
|
|
|
|
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
|
|
|
|
NM_000532.5(PCCB):c.446dup (p.Thr150fs)
|
|
|
|
NM_000532.5(PCCB):c.449del (p.Thr150fs)
|
|
|
|
NM_000532.5(PCCB):c.450G>C (p.Thr150=)
|
|
|
|
NM_000532.5(PCCB):c.450G>T (p.Thr150=)
|
|
|
|
NM_000532.5(PCCB):c.453G>A (p.Val151=)
|
|
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
|
NM_000532.5(PCCB):c.459T>A (p.Ala153=)
|
rs2108146658
|
|
|
NM_000532.5(PCCB):c.461C>T (p.Pro154Leu)
|
|
|
|
NM_000532.5(PCCB):c.462A>G (p.Pro154=)
|
|
|
|
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr)
|
rs1559998737
|
|
|
NM_000532.5(PCCB):c.471G>T (p.Gly157=)
|
rs2108146680
|
|
|
NM_000532.5(PCCB):c.472C>G (p.Leu158Val)
|
rs2108146685
|
|
|
NM_000532.5(PCCB):c.474G>A (p.Leu158=)
|
rs2108146690
|
|
|
NM_000532.5(PCCB):c.477T>A (p.Asn159Lys)
|
rs765946213
|
|
|
NM_000532.5(PCCB):c.483_484del (p.Gly163fs)
|
|
|
|
NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
|
|
|
|
NM_000532.5(PCCB):c.486G>A (p.Gly162=)
|
|
|
|
NM_000532.5(PCCB):c.486G>T (p.Gly162=)
|
|
|
|
NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
|
rs1553774884
|
|
|
NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
|
rs879253815
|
|
|
NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
|
|
|
|
NM_000532.5(PCCB):c.495G>T (p.Arg165=)
|
|
|
|
NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
|
|
|
|
NM_000532.5(PCCB):c.49C>T (p.Leu17=)
|
rs200185747
|
|
|
NM_000532.5(PCCB):c.505G>T (p.Gly169Ter)
|
rs1941842008
|
|
|
NM_000532.5(PCCB):c.513G>C (p.Glu171Asp)
|
rs1941842177
|
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
|
NM_000532.5(PCCB):c.519G>A (p.Leu173=)
|
rs2108146783
|
|
|
NM_000532.5(PCCB):c.522T>G (p.Ala174=)
|
|
|
|
NM_000532.5(PCCB):c.525C>A (p.Gly175=)
|
|
|
|
NM_000532.5(PCCB):c.526T>C (p.Tyr176His)
|
|
|
|
NM_000532.5(PCCB):c.527A>G (p.Tyr176Cys)
|
|
|
|
NM_000532.5(PCCB):c.528T>C (p.Tyr176=)
|
rs2108146812
|
|
|
NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)
|
rs769481450
|
|
|
NM_000532.5(PCCB):c.53C>T (p.Ala18Val)
|
|
|
|
NM_000532.5(PCCB):c.540T>C (p.Phe180=)
|
|
|
|
NM_000532.5(PCCB):c.541C>T (p.Leu181=)
|
rs991870747
|
|
|
NM_000532.5(PCCB):c.543+10C>G
|
rs2108146841
|
|
|
NM_000532.5(PCCB):c.543+11T>C
|
|
|
|
NM_000532.5(PCCB):c.543+17T>G
|
|
|
|
NM_000532.5(PCCB):c.543+19G>C
|
|
|
|
NM_000532.5(PCCB):c.543+1G>A
|
rs2108146835
|
|
|
NM_000532.5(PCCB):c.543+1G>C
|
|
|
|
NM_000532.5(PCCB):c.543+8A>G
|
|
|
|
NM_000532.5(PCCB):c.544-10G>C
|
|
|
|
NM_000532.5(PCCB):c.545G>C (p.Arg182Thr)
|
rs2108181825
|
|
|
NM_000532.5(PCCB):c.553dup (p.Thr185fs)
|
rs777455573
|
|
|
NM_000532.5(PCCB):c.554C>G (p.Thr185Arg)
|
rs369612150
|
|
|
NM_000532.5(PCCB):c.555G>C (p.Thr185=)
|
rs543691110
|
|
|
NM_000532.5(PCCB):c.564A>G (p.Gly188=)
|
|
|
|
NM_000532.5(PCCB):c.565G>A (p.Val189Ile)
|
rs2108181880
|
|
|
NM_000532.5(PCCB):c.571C>G (p.Pro191Ala)
|
|
|
|
NM_000532.5(PCCB):c.577A>C (p.Ile193Leu)
|
rs1212475120
|
|
|
NM_000532.5(PCCB):c.579T>A (p.Ile193=)
|
rs2108181900
|
|
|
NM_000532.5(PCCB):c.57C>T (p.Ser19=)
|
rs1196995378
|
|
|
NM_000532.5(PCCB):c.581_584dup (p.Ile196fs)
|
|
|
|
NM_000532.5(PCCB):c.586A>G (p.Ile196Val)
|
|
|
|
NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)
|
rs777726717
|
|
|
NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)
|
|
|
|
NM_000532.5(PCCB):c.590T>C (p.Met197Thr)
|
|
|
|
NM_000532.5(PCCB):c.594C>G (p.Gly198=)
|
rs1933215700
|
|
|
NM_000532.5(PCCB):c.596C>T (p.Pro199Leu)
|
|
|
|
NM_000532.5(PCCB):c.597A>C (p.Pro199=)
|
rs773799305
|
|
|
NM_000532.5(PCCB):c.597A>T (p.Pro199=)
|
|
|
|
NM_000532.5(PCCB):c.59_60del (p.Gly20fs)
|
|
|
|
NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_000532.5(PCCB):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000532.5(PCCB):c.600T>A (p.Cys200Ter)
|
rs759098964
|
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
|
NM_000532.5(PCCB):c.612C>T (p.Ala204=)
|
rs201054265
|
|
|
NM_000532.5(PCCB):c.614T>A (p.Val205Asp)
|
rs1303129574
|
|
|
NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
|
|
|
|
NM_000532.5(PCCB):c.620C>T (p.Ser207Phe)
|
rs1553777582
|
|
|
NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
|
rs2108182082
|
|
|
NM_000532.5(PCCB):c.634G>A (p.Asp212Asn)
|
|
|
|
NM_000532.5(PCCB):c.638del (p.Phe213fs)
|
rs1196443543
|
|
|
NM_000532.5(PCCB):c.641C>G (p.Thr214Arg)
|
rs375740942
|
|
|
NM_000532.5(PCCB):c.642G>T (p.Thr214=)
|
rs148056730
|
|
|
NM_000532.5(PCCB):c.649G>A (p.Val217Ile)
|
rs2108182134
|
|
|
NM_000532.5(PCCB):c.649dup (p.Val217fs)
|
rs796052021
|
|
|
NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)
|
|
|
|
NM_000532.5(PCCB):c.652A>C (p.Lys218Gln)
|
|
|
|
NM_000532.5(PCCB):c.652A>G (p.Lys218Glu)
|
|
|
|
NM_000532.5(PCCB):c.654+13G>A
|
|
|
|
NM_000532.5(PCCB):c.654+14del
|
rs748846212
|
|
|
NM_000532.5(PCCB):c.654+16C>A
|
|
|
|
NM_000532.5(PCCB):c.654+17T>C
|
|
|
|
NM_000532.5(PCCB):c.654+18G>A
|
|
|
|
NM_000532.5(PCCB):c.654+462A>G
|
rs1576327011
|
|
|
NM_000532.5(PCCB):c.654+8A>T
|
rs2108182157
|
|
|
NM_000532.5(PCCB):c.655-12C>G
|
|
|
|
NM_000532.5(PCCB):c.655-18G>A
|
|
|
|
NM_000532.5(PCCB):c.655-20C>G
|
|
|
|
NM_000532.5(PCCB):c.655-2A>G
|
rs1553778865
|
|
|
NM_000532.5(PCCB):c.655-3C>G
|
|
|
|
NM_000532.5(PCCB):c.655-7del
|
|
|
|
NM_000532.5(PCCB):c.655-8T>C
|
|
|
|
NM_000532.5(PCCB):c.655-8dup
|
|
|
|
NM_000532.5(PCCB):c.655-9T>C
|
|
|
|
NM_000532.5(PCCB):c.663C>T (p.Ser221=)
|
rs771455499
|
|
|
NM_000532.5(PCCB):c.667C>T (p.Leu223=)
|
rs1290994455
|
|
|
NM_000532.5(PCCB):c.672C>T (p.Phe224=)
|
|
|
|
NM_000532.5(PCCB):c.675C>T (p.Ile225=)
|
rs2108197231
|
|
|
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
|
rs1052979420
|
|
|
NM_000532.5(PCCB):c.683del (p.Pro228fs)
|
rs2108197244
|
|
|
NM_000532.5(PCCB):c.68C>T (p.Ala23Val)
|
|
|
|
NM_000532.5(PCCB):c.693G>T (p.Val231=)
|
|
|
|
NM_000532.5(PCCB):c.69C>G (p.Ala23=)
|
|
|
|
NM_000532.5(PCCB):c.69C>T (p.Ala23=)
|
|
|
|
NM_000532.5(PCCB):c.6G>A (p.Ala2=)
|
rs769835356
|
|
|
NM_000532.5(PCCB):c.6G>C (p.Ala2=)
|
|
|
|
NM_000532.5(PCCB):c.702C>G (p.Val234=)
|
|
|
|
NM_000532.5(PCCB):c.703A>G (p.Thr235Ala)
|
|
|
|
NM_000532.5(PCCB):c.711G>A (p.Glu237=)
|
|
|
|
NM_000532.5(PCCB):c.714T>A (p.Asp238Glu)
|
|
|
|
NM_000532.5(PCCB):c.716T>A (p.Val239Asp)
|
|
|
|
NM_000532.5(PCCB):c.722A>T (p.Gln241Leu)
|
|
|
|
NM_000532.5(PCCB):c.72G>A (p.Ala24=)
|
rs1389353704
|
|
|
NM_000532.5(PCCB):c.72G>T (p.Ala24=)
|
rs1389353704
|
|
|
NM_000532.5(PCCB):c.730C>A (p.Leu244Ile)
|
|
|
|
NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
|
|
|
|
NM_000532.5(PCCB):c.734GTG[1] (p.Gly246del)
|
rs1553778892
|
|
|
NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
|
|
|
|
NM_000532.5(PCCB):c.737G>T (p.Gly246Val)
|
rs2108197348
|
|
|
NM_000532.5(PCCB):c.73G>A (p.Val25Ile)
|
|
|
|
NM_000532.5(PCCB):c.742A>C (p.Lys248Gln)
|
|
|
|
NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
|
|
|
|
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
|
rs1933813724
|
|
|
NM_000532.5(PCCB):c.750C>T (p.His250=)
|
rs1255224715
|
|
|
NM_000532.5(PCCB):c.751A>G (p.Thr251Ala)
|
|
|
|
NM_000532.5(PCCB):c.751_752del (p.Thr251fs)
|
rs2108197377
|
|
|
NM_000532.5(PCCB):c.753C>T (p.Thr251=)
|
rs2108197383
|
|
|
NM_000532.5(PCCB):c.756_758del (p.Met253del)
|
|
|
|
NM_000532.5(PCCB):c.757A>G (p.Met253Val)
|
|
|
|
NM_000532.5(PCCB):c.763+12dup
|
|
|
|
NM_000532.5(PCCB):c.763+16G>A
|
|
|
|
NM_000532.5(PCCB):c.763+3GA[4]
|
rs1553778916
|
|
|
NM_000532.5(PCCB):c.763+7G>A
|
|
|
|
NM_000532.5(PCCB):c.763+8G>A
|
rs2108197414
|
|
|
NM_000532.5(PCCB):c.763+8G>C
|
rs2108197414
|
|
|
NM_000532.5(PCCB):c.764-10G>A
|
|
|
|
NM_000532.5(PCCB):c.764-10G>C
|
rs372617301
|
|
|
NM_000532.5(PCCB):c.764-11del
|
|
|
|
NM_000532.5(PCCB):c.764-16C>T
|
|
|
|
NM_000532.5(PCCB):c.764-17G>T
|
|
|
|
NM_000532.5(PCCB):c.764-18T>G
|
|
|
|
NM_000532.5(PCCB):c.764-5C>A
|
rs1934010592
|
|
|
NM_000532.5(PCCB):c.764-7C>A
|
|
|
|
NM_000532.5(PCCB):c.764-7C>T
|
|
|
|
NM_000532.5(PCCB):c.765T>C (p.Gly255=)
|
rs2108202688
|
|
|
NM_000532.5(PCCB):c.768G>A (p.Val256=)
|
rs2108202690
|
|
|
NM_000532.5(PCCB):c.769G>A (p.Ala257Thr)
|
rs1197317905
|
|
|
NM_000532.5(PCCB):c.76dup (p.Arg26fs)
|
rs1941479615
|
|
|
NM_000532.5(PCCB):c.774C>T (p.His258=)
|
rs141615209
|
|
|
NM_000532.5(PCCB):c.77_183+30delinsCC
|
|
|
|
NM_000532.5(PCCB):c.780T>G (p.Ala260=)
|
|
|
|
NM_000532.5(PCCB):c.786A>G (p.Glu262=)
|
|
|
|
NM_000532.5(PCCB):c.78C>A (p.Arg26=)
|
|
|
|
NM_000532.5(PCCB):c.78C>T (p.Arg26=)
|
|
|
|
NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
|
rs1560017781
|
|
|
NM_000532.5(PCCB):c.793G>A (p.Val265Ile)
|
|
|
|
NM_000532.5(PCCB):c.799G>T (p.Ala267Ser)
|
|
|
|
NM_000532.5(PCCB):c.808A>G (p.Asn270Asp)
|
|
|
|
NM_000532.5(PCCB):c.809A>G (p.Asn270Ser)
|
rs1234137372
|
|
|
NM_000532.5(PCCB):c.811C>T (p.Leu271Phe)
|
|
|
|
NM_000532.5(PCCB):c.814C>A (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.816G>A (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.816G>C (p.Arg272=)
|
rs762223074
|
|
|
NM_000532.5(PCCB):c.816G>T (p.Arg272=)
|
|
|
|
NM_000532.5(PCCB):c.819T>G (p.Asp273Glu)
|
|
|
|
NM_000532.5(PCCB):c.819_843delinsGATTACACGGG (p.Asp273fs)
|
|
|
|
NM_000532.5(PCCB):c.821T>A (p.Phe274Tyr)
|
|
|
|
NM_000532.5(PCCB):c.821T>C (p.Phe274Ser)
|
|
|
|
NM_000532.5(PCCB):c.828C>T (p.Asn276=)
|
|
|
|
NM_000532.5(PCCB):c.82C>T (p.Leu28Phe)
|
|
|
|
NM_000532.5(PCCB):c.830A>G (p.Tyr277Cys)
|
|
|
|
NM_000532.5(PCCB):c.830A>T (p.Tyr277Phe)
|
rs2108202806
|
|
|
NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
|
|
|
|
NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
|
rs780837200
|
|
|
NM_000532.5(PCCB):c.837C>G (p.Pro279=)
|
|
|
|
NM_000532.5(PCCB):c.838dup (p.Leu280fs)
|
rs769968548
|
|
|
NM_000532.5(PCCB):c.840G>A (p.Leu280=)
|
rs1934015229
|
|
|
NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
|
|
|
|
NM_000532.5(PCCB):c.852C>T (p.Asp284=)
|
rs1298793935
|
|
|
NM_000532.5(PCCB):c.854C>T (p.Pro285Leu)
|
|
|
|
NM_000532.5(PCCB):c.861C>A (p.Pro287=)
|
rs779786032
|
|
|
NM_000532.5(PCCB):c.861C>T (p.Pro287=)
|
rs779786032
|
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
|
NM_000532.5(PCCB):c.864C>A (p.Val288=)
|
rs1934016889
|
|
|
NM_000532.5(PCCB):c.865C>A (p.Arg289Ser)
|
rs771935604
|
|
|
NM_000532.5(PCCB):c.866G>A (p.Arg289His)
|
rs532142254
|
|
|
NM_000532.5(PCCB):c.866G>C (p.Arg289Pro)
|
|
|
|
NM_000532.5(PCCB):c.875A>G (p.His292Arg)
|
rs2108202909
|
|
|
NM_000532.5(PCCB):c.876C>T (p.His292=)
|
rs776893713
|
|
|
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn)
|
rs183013046
|
|
|
NM_000532.5(PCCB):c.884+10A>G
|
rs2108202951
|
|
|
NM_000532.5(PCCB):c.884+11G>A
|
|
|
|
NM_000532.5(PCCB):c.884+14C>A
|
|
|
|
NM_000532.5(PCCB):c.884+16dup
|
|
|
|
NM_000532.5(PCCB):c.884+19C>G
|
|
|
|
NM_000532.5(PCCB):c.884+8G>A
|
rs187345727
|
|
|
NM_000532.5(PCCB):c.884+8G>T
|
rs187345727
|
|
|
NM_000532.5(PCCB):c.885-11dup
|
|
|
|
NM_000532.5(PCCB):c.885-17C>G
|
|
|
|
NM_000532.5(PCCB):c.885-18C>T
|
rs1482092717
|
|
|
NM_000532.5(PCCB):c.885-3A>C
|
|
|
|
NM_000532.5(PCCB):c.885-6C>G
|
|
|
|
NM_000532.5(PCCB):c.885-6C>T
|
|
|
|
NM_000532.5(PCCB):c.88A>G (p.Ser30Gly)
|
|
|
|
NM_000532.5(PCCB):c.890G>T (p.Arg297Leu)
|
rs147379583
|
|
|
NM_000532.5(PCCB):c.892C>T (p.Leu298=)
|
|
|
|
NM_000532.5(PCCB):c.894G>A (p.Leu298=)
|
rs746964439
|
|
|
NM_000532.5(PCCB):c.912A>G (p.Thr304=)
|
rs778118663
|
|
|
NM_000532.5(PCCB):c.913A>G (p.Ile305Val)
|
|
|
|
NM_000532.5(PCCB):c.919C>T (p.Pro307Ser)
|
|
|
|
NM_000532.5(PCCB):c.927A>C (p.Glu309Asp)
|
rs1934256655
|
|
|
NM_000532.5(PCCB):c.933C>G (p.Thr311=)
|
rs776005016
|
|
|
NM_000532.5(PCCB):c.93_94insTTC (p.Gln31_Ala32insPhe)
|
rs2108127897
|
|
|
NM_000532.5(PCCB):c.941A>C (p.Tyr314Ser)
|
rs148578333
|
|
|
NM_000532.5(PCCB):c.946A>G (p.Met316Val)
|
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
|
NM_000532.5(PCCB):c.950T>G (p.Val317Gly)
|
|
|
|
NM_000532.5(PCCB):c.951G>A (p.Val317=)
|
rs1366112071
|
|
|
NM_000532.5(PCCB):c.952G>T (p.Asp318Tyr)
|
|
|
|
NM_000532.5(PCCB):c.957C>G (p.Ile319Met)
|
rs868483670
|
|
|
NM_000532.5(PCCB):c.957C>T (p.Ile319=)
|
rs868483670
|
|
|
NM_000532.5(PCCB):c.95C>T (p.Ala32Val)
|
rs2108127907
|
|
|
NM_000532.5(PCCB):c.963C>T (p.His321=)
|
rs754807564
|
|
|
NM_000532.5(PCCB):c.965C>T (p.Ser322Phe)
|
rs1034824113
|
|
|
NM_000532.5(PCCB):c.966+10A>G
|
rs2108208861
|
|
|
NM_000532.5(PCCB):c.966+13T>C
|
|
|
|
NM_000532.5(PCCB):c.966+15T>C
|
|
|
|
NM_000532.5(PCCB):c.966+18T>A
|
|
|
|
NM_000532.5(PCCB):c.966+18T>C
|
rs756231828
|
|
|
NM_000532.5(PCCB):c.966+18_966+21del
|
|
|
|
NM_000532.5(PCCB):c.966+19T>C
|
rs1472403904
|
|
|
NM_000532.5(PCCB):c.966+20G>T
|
|
|
|
NM_000532.5(PCCB):c.966+5G>A
|
rs1255284441
|
|
|
NM_000532.5(PCCB):c.966+8C>T
|
|
|
|
NM_000532.5(PCCB):c.967-10A>T
|
|
|
|
NM_000532.5(PCCB):c.967-18G>A
|
rs2108226497
|
|
|
NM_000532.5(PCCB):c.967-4G>T
|
rs2108226511
|
|
|
NM_000532.5(PCCB):c.967-5T>G
|
rs1934917985
|
|
|
NM_000532.5(PCCB):c.967-7C>T
|
|
|
|
NM_000532.5(PCCB):c.967-8dup
|
|
|
|
NM_000532.5(PCCB):c.96C>A (p.Ala32=)
|
rs2108127912
|
|
|
NM_000532.5(PCCB):c.96C>T (p.Ala32=)
|
rs2108127912
|
|
|
NM_000532.5(PCCB):c.972TGA[1] (p.Asp325del)
|
rs796052023
|
|
|
NM_000532.5(PCCB):c.979C>G (p.Arg327Gly)
|
|
|
|
NM_000532.5(PCCB):c.980G>A (p.Arg327His)
|
|
|
|
NM_000532.5(PCCB):c.985T>G (p.Phe329Val)
|
|
|
|
NM_000532.5(PCCB):c.990dup (p.Glu331Ter)
|
rs786200983
|
|
|
NM_000532.5(PCCB):c.991G>T (p.Glu331Ter)
|
rs2108226567
|
|
|
NM_000532.5(PCCB):c.99C>G (p.Thr33=)
|
|
|
|
NM_000532.5(PCCB):c.99C>T (p.Thr33=)
|
|
|
|
NM_000532.5(PCCB):c.9G>A (p.Ala3=)
|
rs763025114
|
|
|
NM_000554.6(CRX):c.100+2T>G
|
|
|
|
NM_000554.6(CRX):c.100+3G>C
|
rs1568624171
|
|
|
NM_000554.6(CRX):c.100+3_100+5delinsTTA
|
rs1064796109
|
|
|
NM_000554.6(CRX):c.101-10C>T
|
|
|
|
NM_000554.6(CRX):c.101-1G>T
|
rs1968115710
|
|
|
NM_000554.6(CRX):c.101-3del
|
rs727503894
|
|
|
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
|
|
|
|
NM_000554.6(CRX):c.108del (p.Arg37fs)
|
rs2123739840
|
|
|
NM_000554.6(CRX):c.109A>C (p.Arg37=)
|
|
|
|
NM_000554.6(CRX):c.116_127del (p.Gln39_Glu42del)
|
|
|
|
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
|
|
|
|
NM_000554.6(CRX):c.123G>A (p.Arg41=)
|
rs181068147
|
|
|
NM_000554.6(CRX):c.124G>A (p.Glu42Lys)
|
rs863224863
|
|
|
NM_000554.6(CRX):c.125_128dup (p.Thr44fs)
|
rs2123739871
|
|
|
NM_000554.6(CRX):c.127C>A (p.Arg43Ser)
|
rs1437021651
|
|
|
NM_000554.6(CRX):c.127C>T (p.Arg43Cys)
|
rs1437021651
|
|
|
NM_000554.6(CRX):c.128G>T (p.Arg43Leu)
|
rs771736389
|
|
|
NM_000554.6(CRX):c.129C>T (p.Arg43=)
|
rs775065439
|
|
|
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
|
|
|
|
NM_000554.6(CRX):c.138C>T (p.Phe46=)
|
|
|
|
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
|
|
|
|
NM_000554.6(CRX):c.151C>T (p.Leu51=)
|
|
|
|
NM_000554.6(CRX):c.152_153del (p.Leu51fs)
|
rs1968116898
|
|
|
NM_000554.6(CRX):c.159del (p.Glu53fs)
|
|
|
|
NM_000554.6(CRX):c.165G>A (p.Glu55=)
|
|
|
|
NM_000554.6(CRX):c.176_177del (p.Ala59fs)
|
rs2123739943
|
|
|
NM_000554.6(CRX):c.177C>T (p.Ala59=)
|
|
|
|
NM_000554.6(CRX):c.182C>T (p.Thr61Ile)
|
rs1599985527
|
|
|
NM_000554.6(CRX):c.196G>T (p.Val66Phe)
|
rs61748438
|
|
|
NM_000554.6(CRX):c.198C>T (p.Val66=)
|
|
|
|
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
|
|
|
|
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
|
|
|
|
NM_000554.6(CRX):c.213G>A (p.Glu71=)
|
|
|
|
NM_000554.6(CRX):c.216G>A (p.Val72=)
|
rs2123739992
|
|
|
NM_000554.6(CRX):c.226A>T (p.Ile76Phe)
|
rs2123740000
|
|
|
NM_000554.6(CRX):c.238G>A (p.Glu80Lys)
|
rs62654391
|
|
|
NM_000554.6(CRX):c.239A>C (p.Glu80Ala)
|
rs104894671
|
|
|
NM_000554.6(CRX):c.240G>A (p.Glu80=)
|
|
|
|
NM_000554.6(CRX):c.252+18_252+24del
|
rs2123740025
|
|
|
NM_000554.6(CRX):c.253-1G>T
|
|
|
|
NM_000554.6(CRX):c.258G>C (p.Trp86Cys)
|
rs1968160766
|
|
|
NM_000554.6(CRX):c.25C>T (p.Pro9Ser)
|
rs2123738269
|
|
|
NM_000554.6(CRX):c.262A>G (p.Lys88Glu)
|
rs1968160874
|
|
|
NM_000554.6(CRX):c.262_275del (p.Phe87_Lys88insTer)
|
rs1968160841
|
|
|
NM_000554.6(CRX):c.263A>G (p.Lys88Arg)
|
rs1001151383
|
|
|
NM_000554.6(CRX):c.270G>C (p.Arg90=)
|
|
|
|
NM_000554.6(CRX):c.274G>A (p.Ala92Thr)
|
rs786205521
|
|
|
NM_000554.6(CRX):c.274G>C (p.Ala92Pro)
|
rs786205521
|
|
|
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
|
|
|
|
NM_000554.6(CRX):c.292C>T (p.Arg98Ter)
|
rs751018117
|
|
|
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
|
|
|
|
NM_000554.6(CRX):c.323del (p.Pro108fs)
|
rs1968162287
|
|
|
NM_000554.6(CRX):c.324del (p.Gly110fs)
|
rs2123742895
|
|
|
NM_000554.6(CRX):c.339G>A (p.Lys113=)
|
rs761978269
|
|
|
NM_000554.6(CRX):c.342C>T (p.Ala114=)
|
|
|
|
NM_000554.6(CRX):c.345G>A (p.Arg115=)
|
rs1968162928
|
|
|
NM_000554.6(CRX):c.349G>A (p.Ala117Thr)
|
rs1599991109
|
|
|
NM_000554.6(CRX):c.360G>A (p.Lys120=)
|
|
|
|
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
|
|
|
|
NM_000554.6(CRX):c.365del (p.Gly122fs)
|
rs1968163226
|
|
|
NM_000554.6(CRX):c.372C>A (p.Ser124=)
|
rs755797220
|
|
|
NM_000554.6(CRX):c.377G>A (p.Arg126Lys)
|
rs1299569341
|
|
|
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
|
|
|
|
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
|
|
|
|
NM_000554.6(CRX):c.381del (p.Ser128fs)
|
rs1599991268
|
|
|
NM_000554.6(CRX):c.390T>C (p.Asp130=)
|
|
|
|
NM_000554.6(CRX):c.404C>G (p.Pro135Arg)
|
rs2123743010
|
|
|
NM_000554.6(CRX):c.404del (p.Pro135fs)
|
rs1064797246
|
|
|
NM_000554.6(CRX):c.406C>T (p.Leu136=)
|
|
|
|
NM_000554.6(CRX):c.407_416dup (p.Asp140fs)
|
rs1968164438
|
|
|
NM_000554.6(CRX):c.408G>C (p.Leu136=)
|
|
|
|
NM_000554.6(CRX):c.415T>G (p.Ser139Ala)
|
rs373281561
|
|
|
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter)
|
rs1968164899
|
|
|
NM_000554.6(CRX):c.42C>A (p.Asn14Lys)
|
rs774344094
|
|
|
NM_000554.6(CRX):c.431_434del (p.Pro144fs)
|
rs1968165008
|
|
|
NM_000554.6(CRX):c.435del (p.Leu146fs)
|
rs1968165217
|
|
|
NM_000554.6(CRX):c.437_449del (p.Leu146fs)
|
rs1968165080
|
|
|
NM_000554.6(CRX):c.441C>A (p.Pro147=)
|
|
|
|
NM_000554.6(CRX):c.441C>T (p.Pro147=)
|
rs147422878
|
|
|
NM_000554.6(CRX):c.442G>C (p.Gly148Arg)
|
rs760080266
|
|
|
NM_000554.6(CRX):c.447dup (p.Ser150fs)
|
rs61748444
|
|
|
NM_000554.6(CRX):c.449C>G (p.Ser150Ter)
|
rs864309706
|
|
|
NM_000554.6(CRX):c.462C>T (p.Thr154=)
|
rs2123743108
|
|
|
NM_000554.6(CRX):c.463dup (p.Thr155fs)
|
rs2123743110
|
|
|
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
|
|
|
|
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
|
|
|
|
NM_000554.6(CRX):c.494del (p.Pro165fs)
|
rs2123743155
|
|
|
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
|
|
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
|
NM_000554.6(CRX):c.500del (p.Ala166_Ser167insTer)
|
|
|
|
NM_000554.6(CRX):c.501del (p.Glu168fs)
|
rs2123743175
|
|
|
NM_000554.6(CRX):c.509del (p.Pro170fs)
|
rs2123743184
|
|
|
NM_000554.6(CRX):c.512del (p.Leu171fs)
|
rs1968166909
|
|
|
NM_000554.6(CRX):c.522G>A (p.Ala174=)
|
rs376827106
|
|
|
NM_000554.6(CRX):c.523C>T (p.Gln175Ter)
|
rs1968167093
|
|
|
NM_000554.6(CRX):c.526C>T (p.Arg176Trp)
|
rs543243551
|
|
|
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
|
|
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
|
NM_000554.6(CRX):c.52C>T (p.Leu18=)
|
|
|
|
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
|
|
|
|
NM_000554.6(CRX):c.533G>C (p.Gly178Ala)
|
rs926713896
|
|
|
NM_000554.6(CRX):c.534G>C (p.Gly178=)
|
|
|
|
NM_000554.6(CRX):c.534_538del (p.Leu179fs)
|
|
|
|
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
|
|
|
|
NM_000554.6(CRX):c.543C>A (p.Ala181=)
|
|
|
|
NM_000554.6(CRX):c.545C>G (p.Ser182Ter)
|
rs2123743235
|
|
|
NM_000554.6(CRX):c.549dup (p.Pro184fs)
|
|
|
|
NM_000554.6(CRX):c.551dup (p.Ser185fs)
|
|
|
|
NM_000554.6(CRX):c.555T>A (p.Ser185=)
|
|
|
|
NM_000554.6(CRX):c.557del (p.Leu186fs)
|
|
|
|
NM_000554.6(CRX):c.565G>C (p.Ala189Pro)
|
rs142111462
|
|
|
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
|
|
|
|
NM_000554.6(CRX):c.569_570del (p.Pro190fs)
|
|
|
|
NM_000554.6(CRX):c.571del (p.Tyr191fs)
|
rs61748452
|
|
|
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
|
|
|
|
NM_000554.6(CRX):c.578T>A (p.Met193Lys)
|
rs771206912
|
|
|
NM_000554.6(CRX):c.581C>A (p.Thr194Asn)
|
rs774657041
|
|
|
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
|
|
|
|
NM_000554.6(CRX):c.587C>T (p.Ala196Val)
|
rs1372852556
|
|
|
NM_000554.6(CRX):c.590del (p.Pro197fs)
|
rs1968169100
|
|
|
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
|
|
|
|
NM_000554.6(CRX):c.592del (p.Ala198fs)
|
rs1968169272
|
|
|
NM_000554.6(CRX):c.593C>T (p.Ala198Val)
|
rs776232503
|
|
|
NM_000554.6(CRX):c.594_606del (p.Ser199fs)
|
rs1968169319
|
|
|
NM_000554.6(CRX):c.597del (p.Ala200fs)
|
rs2123743359
|
|
|
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
|
|
|
|
NM_000554.6(CRX):c.605del (p.Cys202fs)
|
rs878853383
|
|
|
NM_000554.6(CRX):c.606C>A (p.Cys202Ter)
|
|
|
|
NM_000554.6(CRX):c.60C>G (p.Gly20=)
|
rs769017861
|
|
|
NM_000554.6(CRX):c.60C>T (p.Gly20=)
|
|
|
|
NM_000554.6(CRX):c.615del (p.Ser206fs)
|
rs281865516
|
|
|
NM_000554.6(CRX):c.624T>G (p.Tyr208Ter)
|
rs2123743395
|
|
|
NM_000554.6(CRX):c.626G>A (p.Gly209Glu)
|
rs1968170166
|
|
|
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
|
|
|
|
NM_000554.6(CRX):c.633G>A (p.Pro211=)
|
|
|
|
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
|
|
|
|
NM_000554.6(CRX):c.660del (p.Tyr221fs)
|
rs864309707
|
|
|
NM_000554.6(CRX):c.660dup (p.Tyr221fs)
|
rs864309707
|
|
|
NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)
|
|
|
|
NM_000554.6(CRX):c.661del (p.Tyr221fs)
|
rs864309708
|
|
|
NM_000554.6(CRX):c.663C>A (p.Tyr221Ter)
|
rs1064797247
|
|
|
NM_000554.6(CRX):c.663C>G (p.Tyr221Ter)
|
|
|
|
NM_000554.6(CRX):c.673A>G (p.Met225Val)
|
|
|
|
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
|
|
|
|
NM_000554.6(CRX):c.678G>A (p.Val226=)
|
|
|
|
NM_000554.6(CRX):c.682C>T (p.Gln228Ter)
|
|
|
|
NM_000554.6(CRX):c.684G>C (p.Gln228His)
|
rs756105390
|
|
|
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile)
|
rs1968171338
|
|
|
NM_000554.6(CRX):c.690G>T (p.Gly230=)
|
rs936709261
|
|
|
NM_000554.6(CRX):c.692_716del (p.Gly231fs)
|
|
|
|
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
|
|
|
|
NM_000554.6(CRX):c.702T>C (p.Leu234=)
|
rs992252014
|
|
|
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
|
|
|
|
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr)
|
rs1968172066
|
|
|
NM_000554.6(CRX):c.714del (p.Gly239fs)
|
|
|
|
NM_000554.6(CRX):c.717C>A (p.Gly239=)
|
rs886054546
|
|
|
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
|
|
|
|
NM_000554.6(CRX):c.728dup (p.Pro244fs)
|
rs1968172289
|
|
|
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
|
|
|
|
NM_000554.6(CRX):c.750del (p.Thr251fs)
|
rs2123743577
|
|
|
NM_000554.6(CRX):c.753del (p.Ser252fs)
|
rs61749660
|
|
|
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
|
|
|
|
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)
|
rs1968173024
|
|
|
NM_000554.6(CRX):c.76_80del (p.Met26fs)
|
rs2123738324
|
|
|
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
|
|
|
|
NM_000554.6(CRX):c.774T>A (p.Tyr258Ter)
|
rs767273026
|
|
|
NM_000554.6(CRX):c.777C>T (p.Gly259=)
|
|
|
|
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)
|
rs2123743638
|
|
|
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
|
|
|
|
NM_000554.6(CRX):c.786C>T (p.Ser262=)
|
|
|
|
NM_000554.6(CRX):c.790G>T (p.Val264Leu)
|
rs138146799
|
|
|
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr)
|
rs751790087
|
|
|
NM_000554.6(CRX):c.794A>T (p.Asp265Val)
|
rs2123743660
|
|
|
NM_000554.6(CRX):c.798del (p.Leu267fs)
|
rs2123743667
|
|
|
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
|
|
|
|
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr)
|
rs2123743672
|
|
|
NM_000554.6(CRX):c.81C>T (p.His27=)
|
rs2123738329
|
|
|
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
|
|
|
|
NM_000554.6(CRX):c.841A>G (p.Asn281Asp)
|
rs2123743725
|
|
|
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
|
|
|
|
NM_000554.6(CRX):c.852C>T (p.Asp284=)
|
rs771721958
|
|
|
NM_000554.6(CRX):c.856C>T (p.Leu286=)
|
rs2123743743
|
|
|
NM_000554.6(CRX):c.857T>C (p.Leu286Pro)
|
rs886054547
|
|
|
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
|
|
|
|
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
|
|
|
|
NM_000554.6(CRX):c.871C>T (p.Gln291Ter)
|
rs2123743754
|
|
|
NM_000554.6(CRX):c.873G>T (p.Gln291His)
|
rs1968174829
|
|
|
NM_000554.6(CRX):c.876T>C (p.Ser292=)
|
rs2123743757
|
|
|
NM_000554.6(CRX):c.893T>A (p.Ile298Asn)
|
rs2123743769
|
|
|
NM_000554.6(CRX):c.894C>A (p.Ile298=)
|
|
|
|
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
|
|
|
|
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys)
|
rs565486330
|
|
|
NM_000687.4(AHCY):c.1004G>A (p.Arg335His)
|
|
|
|
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val)
|
rs771507250
|
|
|
NM_000687.4(AHCY):c.1029G>T (p.Arg343=)
|
|
|
|
NM_000687.4(AHCY):c.104T>C (p.Met35Thr)
|
rs770343325
|
|
|
NM_000687.4(AHCY):c.1068C>T (p.Phe356=)
|
|
|
|
NM_000687.4(AHCY):c.1086C>T (p.Phe362=)
|
|
|
|
NM_000687.4(AHCY):c.1089C>T (p.Thr363=)
|
|
|
|
NM_000687.4(AHCY):c.1096G>A (p.Val366Met)
|
|
|
|
NM_000687.4(AHCY):c.1103C>T (p.Ala368Val)
|
|
|
|
NM_000687.4(AHCY):c.1104G>A (p.Ala368=)
|
|
|
|
NM_000687.4(AHCY):c.1110C>A (p.Ile370=)
|
|
|
|
NM_000687.4(AHCY):c.1110C>T (p.Ile370=)
|
|
|
|
NM_000687.4(AHCY):c.1114C>T (p.Leu372=)
|
|
|
|
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
|
|
|
|
NM_000687.4(AHCY):c.1134G>C (p.Lys378Asn)
|
|
|
|
NM_000687.4(AHCY):c.1140C>T (p.Pro380=)
|
|
|
|
NM_000687.4(AHCY):c.1142T>C (p.Val381Ala)
|
rs759021534
|
|
|
NM_000687.4(AHCY):c.1160C>T (p.Pro387Leu)
|
|
|
|
NM_000687.4(AHCY):c.1167+14_1167+16del
|
rs766042035
|
|
|
NM_000687.4(AHCY):c.1168-9T>C
|
rs2122711427
|
|
|
NM_000687.4(AHCY):c.120G>A (p.Ser40=)
|
|
|
|
NM_000687.4(AHCY):c.1210G>A (p.Val404Met)
|
|
|
|
NM_000687.4(AHCY):c.1215G>A (p.Lys405=)
|
|
|
|
NM_000687.4(AHCY):c.1223A>G (p.Lys408Arg)
|
|
|
|
NM_000687.4(AHCY):c.1223A>T (p.Lys408Met)
|
|
|
|
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser)
|
rs1194152113
|
|
|
NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg)
|
|
|
|
NM_000687.4(AHCY):c.1282G>A (p.Asp428Asn)
|
|
|
|
NM_000687.4(AHCY):c.1292G>A (p.Arg431His)
|
|
|
|
NM_000687.4(AHCY):c.1296C>G (p.Tyr432Ter)
|
|
|
|
NM_000687.4(AHCY):c.129G>A (p.Lys43=)
|
|
|
|
NM_000687.4(AHCY):c.137A>C (p.Lys46Thr)
|
|
|
|
NM_000687.4(AHCY):c.141C>T (p.Gly47=)
|
|
|
|
NM_000687.4(AHCY):c.145del (p.Arg49fs)
|
|
|
|
NM_000687.4(AHCY):c.172G>T (p.Val58Leu)
|
|
|
|
NM_000687.4(AHCY):c.176A>T (p.Glu59Val)
|
|
|
|
NM_000687.4(AHCY):c.184G>A (p.Val62Ile)
|
|
|
|
NM_000687.4(AHCY):c.18C>T (p.Pro6=)
|
rs1601690050
|
|
|
NM_000687.4(AHCY):c.199C>T (p.Leu67Phe)
|
|
|
|
NM_000687.4(AHCY):c.201C>T (p.Leu67=)
|
|
|
|
NM_000687.4(AHCY):c.202G>A (p.Val68Ile)
|
|
|
|
NM_000687.4(AHCY):c.206C>A (p.Thr69Asn)
|
|
|
|
NM_000687.4(AHCY):c.219+13G>A
|
|
|
|
NM_000687.4(AHCY):c.219+15T>C
|
|
|
|
NM_000687.4(AHCY):c.219+18A>G
|
rs2122783447
|
|
|
NM_000687.4(AHCY):c.220-4C>G
|
|
|
|
NM_000687.4(AHCY):c.255G>A (p.Gln85=)
|
|
|
|
NM_000687.4(AHCY):c.263C>T (p.Ala88Val)
|
|
|
|
NM_000687.4(AHCY):c.264G>A (p.Ala88=)
|
|
|
|
NM_000687.4(AHCY):c.267G>A (p.Ala89=)
|
|
|
|
NM_000687.4(AHCY):c.273C>T (p.Ala91=)
|
|
|
|
NM_000687.4(AHCY):c.28+14C>T
|
|
|
|
NM_000687.4(AHCY):c.28+15C>G
|
|
|
|
NM_000687.4(AHCY):c.28+17G>T
|
|
|
|
NM_000687.4(AHCY):c.28+20del
|
|
|
|
NM_000687.4(AHCY):c.29-15T>C
|
|
|
|
NM_000687.4(AHCY):c.295+11C>T
|
|
|
|
NM_000687.4(AHCY):c.296-12C>T
|
|
|
|
NM_000687.4(AHCY):c.296-13A>G
|
|
|
|
NM_000687.4(AHCY):c.296-4C>G
|
|
|
|
NM_000687.4(AHCY):c.297G>A (p.Val99=)
|
|
|
|
NM_000687.4(AHCY):c.318G>A (p.Thr106=)
|
|
|
|
NM_000687.4(AHCY):c.335G>T (p.Trp112Leu)
|
|
|
|
NM_000687.4(AHCY):c.34A>G (p.Ile12Val)
|
|
|
|
NM_000687.4(AHCY):c.350C>A (p.Thr117Asn)
|
|
|
|
NM_000687.4(AHCY):c.366C>G (p.Asp122Glu)
|
rs141935523
|
|
|
NM_000687.4(AHCY):c.366C>T (p.Asp122=)
|
|
|
|
NM_000687.4(AHCY):c.36C>T (p.Ile12=)
|
|
|
|
NM_000687.4(AHCY):c.373C>G (p.Leu125Val)
|
|
|
|
NM_000687.4(AHCY):c.394G>A (p.Gly132Arg)
|
|
|
|
NM_000687.4(AHCY):c.399C>T (p.Gly133=)
|
|
|
|
NM_000687.4(AHCY):c.39C>T (p.Gly13=)
|
|
|
|
NM_000687.4(AHCY):c.432G>A (p.Pro144=)
|
|
|
|
NM_000687.4(AHCY):c.43G>A (p.Ala15Thr)
|
|
|
|
NM_000687.4(AHCY):c.443C>T (p.Pro148Leu)
|
|
|
|
NM_000687.4(AHCY):c.445+12G>A
|
|
|
|
NM_000687.4(AHCY):c.445+17A>G
|
|
|
|
NM_000687.4(AHCY):c.446-13C>G
|
|
|
|
NM_000687.4(AHCY):c.446-17T>C
|
|
|
|
NM_000687.4(AHCY):c.457A>G (p.Ile153Val)
|
|
|
|
NM_000687.4(AHCY):c.468G>C (p.Glu156Asp)
|
rs1568799740
|
|
|
NM_000687.4(AHCY):c.46G>C (p.Ala16Pro)
|
|
|
|
NM_000687.4(AHCY):c.474G>A (p.Thr158=)
|
|
|
|
NM_000687.4(AHCY):c.475A>G (p.Thr159Ala)
|
|
|
|
NM_000687.4(AHCY):c.526C>T (p.Pro176Ser)
|
|
|
|
NM_000687.4(AHCY):c.546C>T (p.Asp182=)
|
rs1363332391
|
|
|
NM_000687.4(AHCY):c.549C>T (p.Ser183=)
|
|
|
|
NM_000687.4(AHCY):c.552C>T (p.Val184=)
|
|
|
|
NM_000687.4(AHCY):c.558+1_558+2delinsCG
|
|
|
|
NM_000687.4(AHCY):c.558+20C>T
|
|
|
|
NM_000687.4(AHCY):c.558+4_558+27del
|
|
|
|
NM_000687.4(AHCY):c.559-13_559-12dup
|
|
|
|
NM_000687.4(AHCY):c.570C>T (p.Asp190=)
|
|
|
|
NM_000687.4(AHCY):c.586C>T (p.Arg196Trp)
|
rs2122760447
|
|
|
NM_000687.4(AHCY):c.5C>A (p.Ser2Tyr)
|
|
|
|
NM_000687.4(AHCY):c.63C>T (p.Ala21=)
|
|
|
|
NM_000687.4(AHCY):c.647C>T (p.Ala216Val)
|
|
|
|
NM_000687.4(AHCY):c.648G>A (p.Ala216=)
|
|
|
|
NM_000687.4(AHCY):c.648G>C (p.Ala216=)
|
|
|
|
NM_000687.4(AHCY):c.64C>T (p.Leu22=)
|
|
|
|
NM_000687.4(AHCY):c.659G>T (p.Gly220Val)
|
|
|
|
NM_000687.4(AHCY):c.662A>G (p.Tyr221Cys)
|
|
|
|
NM_000687.4(AHCY):c.67G>C (p.Asp23His)
|
|
|
|
NM_000687.4(AHCY):c.685G>A (p.Ala229Thr)
|
rs767066341
|
|
|
NM_000687.4(AHCY):c.690G>A (p.Gln230=)
|
|
|
|
NM_000687.4(AHCY):c.705C>T (p.Phe235=)
|
|
|
|
NM_000687.4(AHCY):c.70A>G (p.Ile24Val)
|
|
|
|
NM_000687.4(AHCY):c.712C>T (p.Arg238Cys)
|
|
|
|
NM_000687.4(AHCY):c.714C>T (p.Arg238=)
|
|
|
|
NM_000687.4(AHCY):c.715G>A (p.Val239Ile)
|
|
|
|
NM_000687.4(AHCY):c.731T>C (p.Ile244Thr)
|
|
|
|
NM_000687.4(AHCY):c.766+13A>G
|
|
|
|
NM_000687.4(AHCY):c.766+14A>G
|
|
|
|
NM_000687.4(AHCY):c.766+7T>C
|
|
|
|
NM_000687.4(AHCY):c.767-8_767-7del
|
rs61664915
|
|
|
NM_000687.4(AHCY):c.773A>C (p.Glu258Ala)
|
|
|
|
NM_000687.4(AHCY):c.793G>A (p.Ala265Thr)
|
|
|
|
NM_000687.4(AHCY):c.802G>A (p.Glu268Lys)
|
rs2122758097
|
|
|
NM_000687.4(AHCY):c.81C>T (p.Asn27=)
|
|
|
|
NM_000687.4(AHCY):c.822C>T (p.Thr274=)
|
|
|
|
NM_000687.4(AHCY):c.825C>T (p.Thr275=)
|
|
|
|
NM_000687.4(AHCY):c.82G>A (p.Glu28Lys)
|
|
|
|
NM_000687.4(AHCY):c.841A>G (p.Ile281Val)
|
|
|
|
NM_000687.4(AHCY):c.854+17G>A
|
|
|
|
NM_000687.4(AHCY):c.854+18G>A
|
|
|
|
NM_000687.4(AHCY):c.854+19dup
|
rs753303222
|
|
|
NM_000687.4(AHCY):c.854G>A (p.Arg285Gln)
|
|
|
|
NM_000687.4(AHCY):c.855-9G>C
|
|
|
|
NM_000687.4(AHCY):c.882del (p.Ile295fs)
|
|
|
|
NM_000687.4(AHCY):c.883A>G (p.Ile295Val)
|
|
|
|
NM_000687.4(AHCY):c.90G>A (p.Pro30=)
|
|
|
|
NM_000687.4(AHCY):c.90G>C (p.Pro30=)
|
|
|
|
NM_000687.4(AHCY):c.910G>A (p.Val304Met)
|
|
|
|
NM_000687.4(AHCY):c.910G>T (p.Val304Leu)
|
|
|
|
NM_000687.4(AHCY):c.924C>G (p.Val308=)
|
|
|
|
NM_000687.4(AHCY):c.937G>A (p.Glu313Lys)
|
|
|
|
NM_000687.4(AHCY):c.943G>A (p.Ala315Thr)
|
|
|
|
NM_000687.4(AHCY):c.943G>T (p.Ala315Ser)
|
|
|
|
NM_000687.4(AHCY):c.946G>A (p.Val316Met)
|
|
|
|
NM_000687.4(AHCY):c.954G>A (p.Lys318=)
|
|
|
|
NM_000687.4(AHCY):c.963C>A (p.Ile321=)
|
|
|
|
NM_000687.4(AHCY):c.969G>A (p.Pro323=)
|
|
|
|
NM_000687.4(AHCY):c.972+13C>T
|
|
|
|
NM_000687.4(AHCY):c.973-10C>T
|
|
|
|
NM_000687.4(AHCY):c.973-17G>C
|
|
|
|
NM_000687.4(AHCY):c.973-17G>T
|
|
|
|
NM_000687.4(AHCY):c.973-6G>A
|
|
|
|
NM_000687.4(AHCY):c.973-6G>C
|
|
|
|
NM_000687.4(AHCY):c.97A>G (p.Met33Val)
|
rs1555835400
|
|
|
NM_000687.4(AHCY):c.980G>A (p.Arg327Gln)
|
|
|
|
NM_000687.4(AHCY):c.981G>A (p.Arg327=)
|
rs1338041155
|
|
|
NM_000687.4(AHCY):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_000687.4(AHCY):c.987G>A (p.Arg329=)
|
|
|
|
NM_000709.3(BCKDHA):c.111_122del12
|
rs751877248
|
|
|
NM_000709.4(BCKDHA):c.1008_1015del (p.His336fs)
|
rs1330793674
|
|
|
NM_000709.4(BCKDHA):c.1011C>G (p.Ser337Arg)
|
rs1417360930
|
|
|
NM_000709.4(BCKDHA):c.1028C>G (p.Ser343Ter)
|
rs774735002
|
|
|
NM_000709.4(BCKDHA):c.1031C>T (p.Ala344Val)
|
|
|
|
NM_000709.4(BCKDHA):c.1032G>T (p.Ala344=)
|
rs376446100
|
|
|
NM_000709.4(BCKDHA):c.1041G>T (p.Ser347=)
|
|
|
|
NM_000709.4(BCKDHA):c.1059C>T (p.Tyr353=)
|
rs2122146414
|
|
|
NM_000709.4(BCKDHA):c.1073A>G (p.Asp358Gly)
|
|
|
|
NM_000709.4(BCKDHA):c.108+14C>T
|
|
|
|
NM_000709.4(BCKDHA):c.108+15C>A
|
|
|
|
NM_000709.4(BCKDHA):c.108+17C>T
|
|
|
|
NM_000709.4(BCKDHA):c.108+4A>G
|
|
|
|
NM_000709.4(BCKDHA):c.108+5G>C
|
rs1568499702
|
|
|
NM_000709.4(BCKDHA):c.108+8C>T
|
rs1235086887
|
|
|
NM_000709.4(BCKDHA):c.108+9C>T
|
|
|
|
NM_000709.4(BCKDHA):c.1080C>A (p.Pro360=)
|
rs373390136
|
|
|
NM_000709.4(BCKDHA):c.1080C>G (p.Pro360=)
|
rs373390136
|
|
|
NM_000709.4(BCKDHA):c.109-11C>G
|
|
|
|
NM_000709.4(BCKDHA):c.109-14G>A
|
|
|
|
NM_000709.4(BCKDHA):c.109-15T>A
|
|
|
|
NM_000709.4(BCKDHA):c.109-16C>T
|
rs2123253546
|
|
|
NM_000709.4(BCKDHA):c.109-19C>T
|
|
|
|
NM_000709.4(BCKDHA):c.109-1G>A
|
rs2123253583
|
|
|
NM_000709.4(BCKDHA):c.109-4C>G
|
rs2039240714
|
|
|
NM_000709.4(BCKDHA):c.109-5C>T
|
rs2123253575
|
|
|
NM_000709.4(BCKDHA):c.109-6C>T
|
|
|
|
NM_000709.4(BCKDHA):c.109-9C>G
|
rs866091918
|
|
|
NM_000709.4(BCKDHA):c.109-9C>T
|
rs866091918
|
|
|
NM_000709.4(BCKDHA):c.1090C>T (p.Leu364=)
|
|
|
|
NM_000709.4(BCKDHA):c.1101T>C (p.Tyr367=)
|
rs2039388598
|
|
|
NM_000709.4(BCKDHA):c.1110_1119del (p.Gln371fs)
|
rs1599962569
|
|
|
NM_000709.4(BCKDHA):c.1113A>G (p.Gln371=)
|
rs2039388745
|
|
|
NM_000709.4(BCKDHA):c.1119G>A (p.Trp373Ter)
|
rs765543886
|
|
|
NM_000709.4(BCKDHA):c.111C>T (p.His37=)
|
|
|
|
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.1137del (p.Lys380fs)
|
|
|
|
NM_000709.4(BCKDHA):c.114C>G (p.Pro38=)
|
rs11549935
|
|
|
NM_000709.4(BCKDHA):c.114C>T (p.Pro38=)
|
rs11549935
|
|
|
NM_000709.4(BCKDHA):c.115C>T (p.Pro39Ser)
|
rs750739703
|
|
|
NM_000709.4(BCKDHA):c.1167+11C>A
|
|
|
|
NM_000709.4(BCKDHA):c.1167+13C>T
|
|
|
|
NM_000709.4(BCKDHA):c.1167+13del
|
rs2122146856
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>A
|
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>G
|
rs550593850
|
|
|
NM_000709.4(BCKDHA):c.1167+17C>T
|
rs550593850
|
|
|
NM_000709.4(BCKDHA):c.1167+18G>A
|
|
|
|
NM_000709.4(BCKDHA):c.1167+19G>C
|
|
|
|
NM_000709.4(BCKDHA):c.1167+1G>C
|
rs2039389302
|
|
|
NM_000709.4(BCKDHA):c.1167+1del
|
rs1555767169
|
|
|
NM_000709.4(BCKDHA):c.1167+7G>A
|
|
|
|
NM_000709.4(BCKDHA):c.1168-10G>C
|
|
|
|
NM_000709.4(BCKDHA):c.1168-11dup
|
|
|
|
NM_000709.4(BCKDHA):c.1168-12A>G
|
|
|
|
NM_000709.4(BCKDHA):c.1168-15C>A
|
|
|
|
NM_000709.4(BCKDHA):c.1168-16C>T
|
|
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
|
NM_000709.4(BCKDHA):c.1168-4A>G
|
rs2039405052
|
|
|
NM_000709.4(BCKDHA):c.1168-6C>T
|
rs1045187712
|
|
|
NM_000709.4(BCKDHA):c.1168-8C>G
|
rs2039404920
|
|
|
NM_000709.4(BCKDHA):c.116C>G (p.Pro39Arg)
|
|
|
|
NM_000709.4(BCKDHA):c.116_117dup (p.Arg40fs)
|
rs398123489
|
|
|
NM_000709.4(BCKDHA):c.1170G>A (p.Val390=)
|
|
|
|
NM_000709.4(BCKDHA):c.1179C>G (p.Ala393=)
|
rs2122150496
|
|
|
NM_000709.4(BCKDHA):c.117C>G (p.Pro39=)
|
rs80014754
|
|
|
NM_000709.4(BCKDHA):c.117C>T (p.Pro39=)
|
|
|
|
NM_000709.4(BCKDHA):c.117del (p.Arg40fs)
|
rs398123489
|
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
|
NM_000709.4(BCKDHA):c.1180T>C (p.Phe394Leu)
|
|
|
|
NM_000709.4(BCKDHA):c.1182T>C (p.Phe394=)
|
|
|
|
NM_000709.4(BCKDHA):c.1189G>A (p.Ala397Thr)
|
|
|
|
NM_000709.4(BCKDHA):c.1194G>A (p.Glu398=)
|
|
|
|
NM_000709.4(BCKDHA):c.1196G>A (p.Arg399Gln)
|
|
|
|
NM_000709.4(BCKDHA):c.1197G>C (p.Arg399=)
|
rs2122150577
|
|
|
NM_000709.4(BCKDHA):c.1203C>G (p.Pro401=)
|
rs2122150604
|
|
|
NM_000709.4(BCKDHA):c.1209C>G (p.Pro403=)
|
|
|
|
NM_000709.4(BCKDHA):c.1215C>A (p.Pro405=)
|
rs2122150692
|
|
|
NM_000709.4(BCKDHA):c.1218C>T (p.Asn406=)
|
|
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
|
NM_000709.4(BCKDHA):c.1227C>G (p.Phe409Leu)
|
rs2098470870
|
|
|
NM_000709.4(BCKDHA):c.1236G>C (p.Val412=)
|
rs2122150817
|
|
|
NM_000709.4(BCKDHA):c.1237dup (p.Tyr413fs)
|
|
|
|
NM_000709.4(BCKDHA):c.123G>A (p.Gln41=)
|
rs2123253682
|
|
|
NM_000709.4(BCKDHA):c.1275G>A (p.Glu425=)
|
rs2122151027
|
|
|
NM_000709.4(BCKDHA):c.1278T>A (p.Ser426=)
|
rs2122151044
|
|
|
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)
|
rs755691417
|
|
|
NM_000709.4(BCKDHA):c.1281G>C (p.Leu427=)
|
|
|
|
NM_000709.4(BCKDHA):c.1285C>T (p.Arg429Cys)
|
|
|
|
NM_000709.4(BCKDHA):c.12G>A (p.Ala4=)
|
|
|
|
NM_000709.4(BCKDHA):c.12G>C (p.Ala4=)
|
rs2123232527
|
|
|
NM_000709.4(BCKDHA):c.12_13insGACGGGCGAGGTGGCTCACGCCTGAAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGATGGCGGTAGCG (p.Ile5fs)
|
|
|
|
NM_000709.4(BCKDHA):c.1306G>T (p.Glu436Ter)
|
rs1298823471
|
|
|
NM_000709.4(BCKDHA):c.1308G>A (p.Glu436=)
|
rs755138169
|
|
|
NM_000709.4(BCKDHA):c.1310_1311del (p.His437fs)
|
rs398123492
|
|
|
NM_000709.4(BCKDHA):c.1311C>T (p.His437=)
|
|
|
|
NM_000709.4(BCKDHA):c.1313_1319del (p.Tyr438fs)
|
rs2039407382
|
|
|
NM_000709.4(BCKDHA):c.1314C>T (p.Tyr438=)
|
rs398123493
|
|
|
NM_000709.4(BCKDHA):c.1317A>C (p.Pro439=)
|
rs749795206
|
|
|
NM_000709.4(BCKDHA):c.1332T>C (p.Asp444=)
|
|
|
|
NM_000709.4(BCKDHA):c.1335G>A (p.Lys445=)
|
|
|
|
NM_000709.4(BCKDHA):c.135T>G (p.Phe45Leu)
|
rs1430080785
|
|
|
NM_000709.4(BCKDHA):c.138A>T (p.Ser46=)
|
rs1342568998
|
|
|
NM_000709.4(BCKDHA):c.143del (p.Leu48fs)
|
rs1555765593
|
|
|
NM_000709.4(BCKDHA):c.148G>C (p.Asp50His)
|
|
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
|
NM_000709.4(BCKDHA):c.156C>T (p.Pro52=)
|
|
|
|
NM_000709.4(BCKDHA):c.15C>A (p.Ile5=)
|
rs17173144
|
|
|
NM_000709.4(BCKDHA):c.165A>G (p.Pro55=)
|
rs1216017259
|
|
|
NM_000709.4(BCKDHA):c.171C>T (p.Ala57=)
|
rs2039242293
|
|
|
NM_000709.4(BCKDHA):c.173C>T (p.Ser58Leu)
|
|
|
|
NM_000709.4(BCKDHA):c.183T>C (p.Phe61=)
|
|
|
|
NM_000709.4(BCKDHA):c.186A>T (p.Ile62=)
|
rs149251798
|
|
|
NM_000709.4(BCKDHA):c.198A>G (p.Glu66=)
|
|
|
|
NM_000709.4(BCKDHA):c.202A>G (p.Ile68Val)
|
|
|
|
NM_000709.4(BCKDHA):c.203T>A (p.Ile68Asn)
|
|
|
|
NM_000709.4(BCKDHA):c.204C>A (p.Ile68=)
|
rs2123253880
|
|
|
NM_000709.4(BCKDHA):c.208C>T (p.Pro70Ser)
|
|
|
|
NM_000709.4(BCKDHA):c.210C>T (p.Pro70=)
|
|
|
|
NM_000709.4(BCKDHA):c.214G>A (p.Val72Ile)
|
|
|
|
NM_000709.4(BCKDHA):c.216C>G (p.Val72=)
|
|
|
|
NM_000709.4(BCKDHA):c.21A>C (p.Ala7=)
|
|
|
|
NM_000709.4(BCKDHA):c.21A>G (p.Ala7=)
|
|
|
|
NM_000709.4(BCKDHA):c.222T>G (p.Ser74=)
|
|
|
|
NM_000709.4(BCKDHA):c.228C>T (p.Ile76=)
|
|
|
|
NM_000709.4(BCKDHA):c.231C>A (p.Pro77=)
|
|
|
|
NM_000709.4(BCKDHA):c.231C>G (p.Pro77=)
|
rs2123253941
|
|
|
NM_000709.4(BCKDHA):c.239G>A (p.Arg80His)
|
|
|
|
NM_000709.4(BCKDHA):c.241G>A (p.Val81Ile)
|
|
|
|
NM_000709.4(BCKDHA):c.243C>A (p.Val81=)
|
rs2123253975
|
|
|
NM_000709.4(BCKDHA):c.246G>A (p.Met82Ile)
|
|
|
|
NM_000709.4(BCKDHA):c.24G>A (p.Ala8=)
|
rs1348307618
|
|
|
NM_000709.4(BCKDHA):c.251G>A (p.Arg84Gln)
|
|
|
|
NM_000709.4(BCKDHA):c.252G>A (p.Arg84=)
|
|
|
|
NM_000709.4(BCKDHA):c.252G>T (p.Arg84=)
|
rs2123254022
|
|
|
NM_000709.4(BCKDHA):c.253C>T (p.Gln85Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.258C>G (p.Gly86=)
|
rs2123254043
|
|
|
NM_000709.4(BCKDHA):c.276C>T (p.Ser92=)
|
|
|
|
NM_000709.4(BCKDHA):c.277G>T (p.Glu93Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.282C>A (p.Asp94Glu)
|
|
|
|
NM_000709.4(BCKDHA):c.282C>T (p.Asp94=)
|
rs922714716
|
|
|
NM_000709.4(BCKDHA):c.288+10G>C
|
rs376894084
|
|
|
NM_000709.4(BCKDHA):c.288+11G>A
|
|
|
|
NM_000709.4(BCKDHA):c.288+15C>T
|
|
|
|
NM_000709.4(BCKDHA):c.288+16C>T
|
|
|
|
NM_000709.4(BCKDHA):c.288+19C>A
|
|
|
|
NM_000709.4(BCKDHA):c.288+19C>G
|
|
|
|
NM_000709.4(BCKDHA):c.288+19C>T
|
|
|
|
NM_000709.4(BCKDHA):c.289-10C>T
|
rs2123254428
|
|
|
NM_000709.4(BCKDHA):c.289-12C>T
|
|
|
|
NM_000709.4(BCKDHA):c.289-17T>G
|
|
|
|
NM_000709.4(BCKDHA):c.289-20A>G
|
|
|
|
NM_000709.4(BCKDHA):c.289-4G>A
|
rs765966197
|
|
|
NM_000709.4(BCKDHA):c.289-4G>C
|
|
|
|
NM_000709.4(BCKDHA):c.289-6C>G
|
|
|
|
NM_000709.4(BCKDHA):c.289-7C>A
|
|
|
|
NM_000709.4(BCKDHA):c.289-7C>T
|
rs1270974379
|
|
|
NM_000709.4(BCKDHA):c.289-8A>C
|
|
|
|
NM_000709.4(BCKDHA):c.28G>T (p.Val10Phe)
|
rs1307495247
|
|
|
NM_000709.4(BCKDHA):c.291G>A (p.Leu97=)
|
|
|
|
NM_000709.4(BCKDHA):c.294G>C (p.Pro98=)
|
rs142967869
|
|
|
NM_000709.4(BCKDHA):c.303G>C (p.Lys101Asn)
|
|
|
|
NM_000709.4(BCKDHA):c.306G>A (p.Val102=)
|
rs755966459
|
|
|
NM_000709.4(BCKDHA):c.308T>C (p.Leu103Pro)
|
|
|
|
NM_000709.4(BCKDHA):c.309G>A (p.Leu103=)
|
|
|
|
NM_000709.4(BCKDHA):c.30C>G (p.Val10=)
|
rs2123232613
|
|
|
NM_000709.4(BCKDHA):c.30C>T (p.Val10=)
|
rs2123232613
|
|
|
NM_000709.4(BCKDHA):c.315C>T (p.Leu105=)
|
|
|
|
NM_000709.4(BCKDHA):c.318C>G (p.Tyr106Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.318C>T (p.Tyr106=)
|
|
|
|
NM_000709.4(BCKDHA):c.319A>T (p.Lys107Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.324C>T (p.Ser108=)
|
|
|
|
NM_000709.4(BCKDHA):c.330A>G (p.Thr110=)
|
|
|
|
NM_000709.4(BCKDHA):c.336T>A (p.Leu112=)
|
rs150700696
|
|
|
NM_000709.4(BCKDHA):c.33G>A (p.Trp11Ter)
|
rs1207966026
|
|
|
NM_000709.4(BCKDHA):c.342C>T (p.Thr114=)
|
|
|
|
NM_000709.4(BCKDHA):c.348C>T (p.Asp116=)
|
rs2123254617
|
|
|
NM_000709.4(BCKDHA):c.357C>T (p.Leu119=)
|
|
|
|
NM_000709.4(BCKDHA):c.357_358del (p.Leu119_Tyr120insTer)
|
rs2123254646
|
|
|
NM_000709.4(BCKDHA):c.35G>A (p.Arg12Gln)
|
rs769659202
|
|
|
NM_000709.4(BCKDHA):c.35G>C (p.Arg12Pro)
|
rs769659202
|
|
|
NM_000709.4(BCKDHA):c.367C>T (p.Gln123Ter)
|
rs2039247540
|
|
|
NM_000709.4(BCKDHA):c.371G>C (p.Arg124Pro)
|
rs752700457
|
|
|
NM_000709.4(BCKDHA):c.375+16A>G
|
|
|
|
NM_000709.4(BCKDHA):c.375+17C>T
|
|
|
|
NM_000709.4(BCKDHA):c.375+19del
|
|
|
|
NM_000709.4(BCKDHA):c.375+1G>A
|
|
|
|
NM_000709.4(BCKDHA):c.375+2T>G
|
|
|
|
NM_000709.4(BCKDHA):c.375+5G>A
|
|
|
|
NM_000709.4(BCKDHA):c.375+7G>A
|
|
|
|
NM_000709.4(BCKDHA):c.375+9G>A
|
rs2123254726
|
|
|
NM_000709.4(BCKDHA):c.376-10A>G
|
rs3213861
|
|
|
NM_000709.4(BCKDHA):c.376-10_376-9delinsCA
|
rs2123259725
|
|
|
NM_000709.4(BCKDHA):c.376-12C>T
|
|
|
|
NM_000709.4(BCKDHA):c.376-13T>A
|
|
|
|
NM_000709.4(BCKDHA):c.376-15C>A
|
|
|
|
NM_000709.4(BCKDHA):c.376-20G>C
|
|
|
|
NM_000709.4(BCKDHA):c.376-2A>G
|
|
|
|
NM_000709.4(BCKDHA):c.376-3dup
|
rs2123259752
|
|
|
NM_000709.4(BCKDHA):c.376-8A>T
|
rs398123501
|
|
|
NM_000709.4(BCKDHA):c.376-9C>T
|
rs555417586
|
|
|
NM_000709.4(BCKDHA):c.379C>T (p.Arg127Trp)
|
|
|
|
NM_000709.4(BCKDHA):c.387C>T (p.Ser129=)
|
|
|
|
NM_000709.4(BCKDHA):c.397A>G (p.Thr133Ala)
|
|
|
|
NM_000709.4(BCKDHA):c.39A>G (p.Leu13=)
|
|
|
|
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
|
|
|
|
NM_000709.4(BCKDHA):c.410_426dup (p.Gly143fs)
|
|
|
|
NM_000709.4(BCKDHA):c.416del (p.Gly139fs)
|
|
|
|
NM_000709.4(BCKDHA):c.41del (p.Asn14fs)
|
|
|
|
NM_000709.4(BCKDHA):c.420G>C (p.Thr140=)
|
|
|
|
NM_000709.4(BCKDHA):c.420G>T (p.Thr140=)
|
rs143608852
|
|
|
NM_000709.4(BCKDHA):c.423C>T (p.His141=)
|
rs146804716
|
|
|
NM_000709.4(BCKDHA):c.426G>A (p.Val142=)
|
rs748925009
|
|
|
NM_000709.4(BCKDHA):c.42C>T (p.Asn14=)
|
rs1568499644
|
|
|
NM_000709.4(BCKDHA):c.434C>T (p.Ala145Val)
|
rs1331666622
|
|
|
NM_000709.4(BCKDHA):c.438C>G (p.Ala146=)
|
rs200947033
|
|
|
NM_000709.4(BCKDHA):c.43C>T (p.Arg15Cys)
|
rs371408960
|
|
|
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=)
|
rs2039284438
|
|
|
NM_000709.4(BCKDHA):c.453G>A (p.Thr151=)
|
|
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
|
NM_000709.4(BCKDHA):c.456C>A (p.Asp152Glu)
|
|
|
|
NM_000709.4(BCKDHA):c.459G>A (p.Leu153=)
|
|
|
|
NM_000709.4(BCKDHA):c.484+10T>G
|
rs2122122705
|
|
|
NM_000709.4(BCKDHA):c.484+12C>T
|
|
|
|
NM_000709.4(BCKDHA):c.484+13G>A
|
|
|
|
NM_000709.4(BCKDHA):c.484+16G>A
|
|
|
|
NM_000709.4(BCKDHA):c.484+18T>A
|
|
|
|
NM_000709.4(BCKDHA):c.484+19T>C
|
|
|
|
NM_000709.4(BCKDHA):c.484+7C>T
|
|
|
|
NM_000709.4(BCKDHA):c.484+7dup
|
|
|
|
NM_000709.4(BCKDHA):c.484+8_484+11dup
|
rs1489683670
|
|
|
NM_000709.4(BCKDHA):c.484G>A (p.Gly162Ser)
|
rs2039285328
|
|
|
NM_000709.4(BCKDHA):c.485-10C>A
|
rs760838451
|
|
|
NM_000709.4(BCKDHA):c.485-10C>T
|
|
|
|
NM_000709.4(BCKDHA):c.485-13C>G
|
|
|
|
NM_000709.4(BCKDHA):c.485-19T>C
|
|
|
|
NM_000709.4(BCKDHA):c.485-7C>G
|
|
|
|
NM_000709.4(BCKDHA):c.485-8C>T
|
|
|
|
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
|
|
|
|
NM_000709.4(BCKDHA):c.489G>A (p.Val163=)
|
rs2122134466
|
|
|
NM_000709.4(BCKDHA):c.495G>A (p.Met165Ile)
|
rs754327984
|
|
|
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.510C>T (p.Pro170=)
|
|
|
|
NM_000709.4(BCKDHA):c.511del (p.Leu171fs)
|
rs762084007
|
|
|
NM_000709.4(BCKDHA):c.519A>G (p.Leu173=)
|
|
|
|
NM_000709.4(BCKDHA):c.522C>T (p.Phe174=)
|
|
|
|
NM_000709.4(BCKDHA):c.549T>C (p.Ser183=)
|
rs981398635
|
|
|
NM_000709.4(BCKDHA):c.55C>T (p.Gln19Ter)
|
|
|
|
NM_000709.4(BCKDHA):c.566G>A (p.Arg189His)
|
|
|
|
NM_000709.4(BCKDHA):c.567C>T (p.Arg189=)
|
|
|
|
NM_000709.4(BCKDHA):c.582C>T (p.His194=)
|
|
|
|
NM_000709.4(BCKDHA):c.586G>A (p.Gly196Ser)
|
rs1191782907
|
|
|
NM_000709.4(BCKDHA):c.588C>G (p.Gly196=)
|
rs2122134825
|
|
|
NM_000709.4(BCKDHA):c.60T>A (p.Ala20=)
|
|
|
|
NM_000709.4(BCKDHA):c.60T>C (p.Ala20=)
|
rs751351926
|
|
|
NM_000709.4(BCKDHA):c.623C>T (p.Pro208Leu)
|
|
|
|
NM_000709.4(BCKDHA):c.625C>T (p.Leu209=)
|
rs762226416
|
|
|
NM_000709.4(BCKDHA):c.633G>T (p.Thr211=)
|
rs750729027
|
|
|
NM_000709.4(BCKDHA):c.639C>A (p.Ile213=)
|
rs10404506
|
|
|
NM_000709.4(BCKDHA):c.63C>G (p.Ala21=)
|
rs140322984
|
|
|
NM_000709.4(BCKDHA):c.644_645del (p.Gln215fs)
|
|
|
|
NM_000709.4(BCKDHA):c.646+13G>C
|
|
|
|
NM_000709.4(BCKDHA):c.646+15C>T
|
|
|
|
NM_000709.4(BCKDHA):c.646+20A>G
|
|
|
|
NM_000709.4(BCKDHA):c.646+7ATGC[3]
|
rs2122135109
|
|
|
NM_000709.4(BCKDHA):c.646+8T>C
|
|
|
|
NM_000709.4(BCKDHA):c.647-10T>C
|
|
|
|
NM_000709.4(BCKDHA):c.647-18C>T
|
|
|
|
NM_000709.4(BCKDHA):c.647-19A>G
|
|
|
|
NM_000709.4(BCKDHA):c.647-6C>T
|
rs1304412476
|
|
|
NM_000709.4(BCKDHA):c.647-7C>T
|
|
|
|
NM_000709.4(BCKDHA):c.648G>A (p.Ala216=)
|
|
|
|
NM_000709.4(BCKDHA):c.648G>C (p.Ala216=)
|
|
|
|
NM_000709.4(BCKDHA):c.648G>T (p.Ala216=)
|
rs114716391
|
|
|
NM_000709.4(BCKDHA):c.653G>C (p.Gly218Ala)
|
rs2039372961
|
|
|
NM_000709.4(BCKDHA):c.657G>C (p.Ala219=)
|
|
|
|
NM_000709.4(BCKDHA):c.659del (p.Ala220fs)
|
|
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
|
NM_000709.4(BCKDHA):c.663del (p.Ala220_Tyr221insTer)
|
rs2122142757
|
|
|
NM_000709.4(BCKDHA):c.669C>A (p.Ala223=)
|
|
|
|
NM_000709.4(BCKDHA):c.66C>T (p.Leu22=)
|
|
|
|
NM_000709.4(BCKDHA):c.672G>A (p.Lys224=)
|
|
|
|
NM_000709.4(BCKDHA):c.673C>T (p.Arg225Trp)
|
|
|
|
NM_000709.4(BCKDHA):c.675G>T (p.Arg225=)
|
rs2122142848
|
|
|
NM_000709.4(BCKDHA):c.677C>T (p.Ala226Val)
|
|
|
|
NM_000709.4(BCKDHA):c.67del (p.Leu23fs)
|
|
|
|
NM_000709.4(BCKDHA):c.694G>A (p.Val232Ile)
|
|
|
|
NM_000709.4(BCKDHA):c.699_700del (p.Ile233fs)
|
|
|
|
NM_000709.4(BCKDHA):c.69G>C (p.Leu23=)
|
rs2123232753
|
|
|
NM_000709.4(BCKDHA):c.6G>A (p.Ala2=)
|
rs1420392096
|
|
|
NM_000709.4(BCKDHA):c.701_702del (p.Cys234fs)
|
rs2122142979
|
|
|
NM_000709.4(BCKDHA):c.705C>T (p.Tyr235=)
|
rs2039374030
|
|
|
NM_000709.4(BCKDHA):c.709G>A (p.Gly237Ser)
|
|
|
|
NM_000709.4(BCKDHA):c.712G>A (p.Glu238Lys)
|
|
|
|
NM_000709.4(BCKDHA):c.712G>T (p.Glu238Ter)
|
rs1303770209
|
|
|
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
|
rs1555766993
|
|
|
NM_000709.4(BCKDHA):c.723C>T (p.Ala241=)
|
rs2122143075
|
|
|
NM_000709.4(BCKDHA):c.731G>T (p.Gly244Val)
|
|
|
|
NM_000709.4(BCKDHA):c.740A>G (p.His247Arg)
|
rs1468416468
|
|
|
NM_000709.4(BCKDHA):c.741dup (p.Ala248fs)
|
rs398123504
|
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
|
NM_000709.4(BCKDHA):c.745G>T (p.Gly249Cys)
|
rs137852874
|
|
|
NM_000709.4(BCKDHA):c.746G>T (p.Gly249Val)
|
|
|
|
NM_000709.4(BCKDHA):c.753C>T (p.Asn251=)
|
|
|
|
NM_000709.4(BCKDHA):c.75G>A (p.Leu25=)
|
rs1599945228
|
|
|
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)
|
rs373713279
|
|
|
NM_000709.4(BCKDHA):c.762C>T (p.Ala254=)
|
|
|
|
NM_000709.4(BCKDHA):c.765A>G (p.Thr255=)
|
rs1305172669
|
|
|
NM_000709.4(BCKDHA):c.776C>T (p.Pro259Leu)
|
rs2122143393
|
|
|
NM_000709.4(BCKDHA):c.777C>T (p.Pro259=)
|
|
|
|
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)
|
rs398123505
|
|
|
NM_000709.4(BCKDHA):c.789C>T (p.Phe263=)
|
|
|
|
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)
|
rs137852876
|
|
|
NM_000709.4(BCKDHA):c.794G>A (p.Arg265Gln)
|
rs761996996
|
|
|
NM_000709.4(BCKDHA):c.794G>C (p.Arg265Pro)
|
rs761996996
|
|
|
NM_000709.4(BCKDHA):c.796_797delinsT (p.Asn266fs)
|
|
|
|
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
|
|
|
|
NM_000709.4(BCKDHA):c.810C>T (p.Ala270=)
|
rs2039376289
|
|
|
NM_000709.4(BCKDHA):c.816C>G (p.Ser272=)
|
|
|
|
NM_000709.4(BCKDHA):c.819G>A (p.Thr273=)
|
rs201991385
|
|
|
NM_000709.4(BCKDHA):c.822C>T (p.Pro274=)
|
rs2122143602
|
|
|
NM_000709.4(BCKDHA):c.825C>T (p.Thr275=)
|
rs1555767021
|
|
|
NM_000709.4(BCKDHA):c.828T>G (p.Ser276=)
|
rs2039376515
|
|
|
NM_000709.4(BCKDHA):c.835del (p.Tyr279fs)
|
|
|
|
NM_000709.4(BCKDHA):c.838C>T (p.Arg280Cys)
|
|
|
|
NM_000709.4(BCKDHA):c.842G>T (p.Gly281Val)
|
rs886054461
|
|
|
NM_000709.4(BCKDHA):c.84T>G (p.Pro28=)
|
|
|
|
NM_000709.4(BCKDHA):c.853+10C>T
|
|
|
|
NM_000709.4(BCKDHA):c.853+11T>C
|
rs1555767032
|
|
|
NM_000709.4(BCKDHA):c.853+12G>A
|
|
|
|
NM_000709.4(BCKDHA):c.853+13C>T
|
|
|
|
NM_000709.4(BCKDHA):c.853+19G>A
|
|
|
|
NM_000709.4(BCKDHA):c.853+19G>T
|
|
|
|
NM_000709.4(BCKDHA):c.853+1G>C
|
|
|
|
NM_000709.4(BCKDHA):c.853+20C>T
|
|
|
|
NM_000709.4(BCKDHA):c.853+2T>C
|
|
|
|
NM_000709.4(BCKDHA):c.853+8C>T
|
|
|
|
NM_000709.4(BCKDHA):c.854-14C>G
|
rs372967761
|
|
|
NM_000709.4(BCKDHA):c.854-14_854-13del
|
|
|
|
NM_000709.4(BCKDHA):c.854-16C>T
|
|
|
|
NM_000709.4(BCKDHA):c.854-8C>T
|
|
|
|
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)
|
rs764247545
|
|
|
NM_000709.4(BCKDHA):c.859C>T (p.Arg287Ter)
|
rs764247545
|
|
|
NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs)
|
rs794727847
|
|
|
NM_000709.4(BCKDHA):c.87G>A (p.Gly29=)
|
rs1599945255
|
|
|
NM_000709.4(BCKDHA):c.888C>T (p.Ile296=)
|
rs1237555239
|
|
|
NM_000709.4(BCKDHA):c.904G>A (p.Asp302Asn)
|
|
|
|
NM_000709.4(BCKDHA):c.905A>C (p.Asp302Ala)
|
rs398123509
|
|
|
NM_000709.4(BCKDHA):c.905A>G (p.Asp302Gly)
|
|
|
|
NM_000709.4(BCKDHA):c.906T>A (p.Asp302Glu)
|
|
|
|
NM_000709.4(BCKDHA):c.909_910del (p.Phe304fs)
|
rs398123510
|
|
|
NM_000709.4(BCKDHA):c.918A>C (p.Val306=)
|
|
|
|
NM_000709.4(BCKDHA):c.925G>T (p.Ala309Ser)
|
|
|
|
NM_000709.4(BCKDHA):c.939C>T (p.Ala313=)
|
rs2039381646
|
|
|
NM_000709.4(BCKDHA):c.940C>A (p.Arg314=)
|
rs753698250
|
|
|
NM_000709.4(BCKDHA):c.949G>T (p.Ala317Ser)
|
|
|
|
NM_000709.4(BCKDHA):c.963C>T (p.Asn321=)
|
rs2122145204
|
|
|
NM_000709.4(BCKDHA):c.964C>T (p.Gln322Ter)
|
rs398123513
|
|
|
NM_000709.4(BCKDHA):c.968C>G (p.Pro323Arg)
|
rs779466371
|
|
|
NM_000709.4(BCKDHA):c.978C>A (p.Ile326=)
|
rs398123514
|
|
|
NM_000709.4(BCKDHA):c.978C>G (p.Ile326Met)
|
|
|
|
NM_000709.4(BCKDHA):c.981G>A (p.Glu327=)
|
|
|
|
NM_000709.4(BCKDHA):c.981G>C (p.Glu327Asp)
|
rs2039382789
|
|
|
NM_000709.4(BCKDHA):c.990C>A (p.Thr330=)
|
rs1213059681
|
|
|
NM_000709.4(BCKDHA):c.990C>T (p.Thr330=)
|
|
|
|
NM_000709.4(BCKDHA):c.993C>T (p.Tyr331=)
|
|
|
|
NM_000709.4(BCKDHA):c.995+10G>C
|
|
|
|
NM_000709.4(BCKDHA):c.995+13C>T
|
|
|
|
NM_000709.4(BCKDHA):c.995+15C>T
|
|
|
|
NM_000709.4(BCKDHA):c.995+16C>A
|
|
|
|
NM_000709.4(BCKDHA):c.995+17C>G
|
|
|
|
NM_000709.4(BCKDHA):c.995+17C>T
|
|
|
|
NM_000709.4(BCKDHA):c.995+18C>A
|
|
|
|
NM_000709.4(BCKDHA):c.995+18C>G
|
|
|
|
NM_000709.4(BCKDHA):c.995+18C>T
|
|
|
|
NM_000709.4(BCKDHA):c.995+18del
|
|
|
|
NM_000709.4(BCKDHA):c.995+18dup
|
|
|
|
NM_000709.4(BCKDHA):c.995+1G>A
|
rs2039383036
|
|
|
NM_000709.4(BCKDHA):c.995+20T>C
|
|
|
|
NM_000709.4(BCKDHA):c.995+2T>C
|
|
|
|
NM_000709.4(BCKDHA):c.995+8C>T
|
rs886054462
|
|
|
NM_000709.4(BCKDHA):c.996-10C>G
|
rs748005370
|
|
|
NM_000709.4(BCKDHA):c.996-11C>T
|
|
|
|
NM_000709.4(BCKDHA):c.996-13T>C
|
|
|
|
NM_000709.4(BCKDHA):c.996-19G>A
|
|
|
|
NM_000709.4(BCKDHA):c.996-19G>C
|
|
|
|
NM_000709.4(BCKDHA):c.996-20G>A
|
|
|
|
NM_000709.4(BCKDHA):c.996-21_996-14del
|
|
|
|
NM_000709.4(BCKDHA):c.996-2A>G
|
rs2122146208
|
|
|
NM_000709.4(BCKDHA):c.996-6G>C
|
rs74586298
|
|
|
NM_000709.4(BCKDHA):c.996-8C>T
|
|
|
|
NM_000709.4(BCKDHA):c.996-9C>G
|
rs2039386647
|
|
|
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)
|
|
|
|
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)
|
rs113707482
|
|
|
NM_001002755.4(NFU1):c.166+3A>G
|
|
|
|
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)
|
|
|
|
NM_001002755.4(NFU1):c.19C>A (p.Arg7=)
|
|
|
|
NM_001002755.4(NFU1):c.207A>G (p.Pro69=)
|
|
|
|
NM_001002755.4(NFU1):c.240T>A (p.Val80=)
|
|
|
|
NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu)
|
|
|
|
NM_001002755.4(NFU1):c.287G>A (p.Arg96His)
|
rs774308958
|
|
|
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)
|
|
|
|
NM_001002755.4(NFU1):c.302+15dup
|
|
|
|
NM_001002755.4(NFU1):c.302+3A>G
|
|
|
|
NM_001002755.4(NFU1):c.303-13dup
|
rs372898848
|
|
|
NM_001002755.4(NFU1):c.303-18T>G
|
|
|
|
NM_001002755.4(NFU1):c.303-19A>T
|
|
|
|
NM_001002755.4(NFU1):c.303-4G>A
|
|
|
|
NM_001002755.4(NFU1):c.313A>C (p.Arg105=)
|
|
|
|
NM_001002755.4(NFU1):c.324A>C (p.Gly108=)
|
|
|
|
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)
|
|
|
|
NM_001002755.4(NFU1):c.369+4A>C
|
rs775249424
|
|
|
NM_001002755.4(NFU1):c.370-4A>T
|
rs1673014101
|
|
|
NM_001002755.4(NFU1):c.370-7T>C
|
|
|
|
NM_001002755.4(NFU1):c.370-8G>A
|
|
|
|
NM_001002755.4(NFU1):c.39T>G (p.Ala13=)
|
|
|
|
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)
|
|
|
|
NM_001002755.4(NFU1):c.484+7T>A
|
|
|
|
NM_001002755.4(NFU1):c.485-20T>A
|
|
|
|
NM_001002755.4(NFU1):c.485-8_485-5del
|
rs769116545
|
|
|
NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)
|
rs757971255
|
|
|
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)
|
|
|
|
NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)
|
|
|
|
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_001002755.4(NFU1):c.526T>C (p.Leu176=)
|
|
|
|
NM_001002755.4(NFU1):c.546-16T>G
|
rs750424685
|
|
|
NM_001002755.4(NFU1):c.546G>A (p.Arg182=)
|
|
|
|
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)
|
|
|
|
NM_001002755.4(NFU1):c.62+12G>A
|
|
|
|
NM_001002755.4(NFU1):c.62+14C>G
|
rs370979719
|
|
|
NM_001002755.4(NFU1):c.62+14C>T
|
rs370979719
|
|
|
NM_001002755.4(NFU1):c.63-4G>A
|
|
|
|
NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr)
|
|
|
|
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)
|
|
|
|
NM_001002755.4(NFU1):c.69T>C (p.Cys23=)
|
rs2104814012
|
|
|
NM_001002755.4(NFU1):c.708A>G (p.Glu236=)
|
|
|
|
NM_001002755.4(NFU1):c.721-8G>C
|
rs1672329270
|
|
|
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)
|
|
|
|
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)
|
|
|
|
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)
|
rs975310478
|
|
|
NM_001010867.4(IBA57):c.1005C>T (p.Ala335=)
|
|
|
|
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)
|
rs150912462
|
|
|
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser)
|
rs150912462
|
|
|
NM_001010867.4(IBA57):c.1041G>T (p.Val347=)
|
|
|
|
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala)
|
|
|
|
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_001010867.4(IBA57):c.1065del (p.Lys356fs)
|
rs2124977415
|
|
|
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp)
|
|
|
|
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter)
|
|
|
|
NM_001010867.4(IBA57):c.147C>G (p.Ala49=)
|
|
|
|
NM_001010867.4(IBA57):c.156G>A (p.Arg52=)
|
rs1571913232
|
|
|
NM_001010867.4(IBA57):c.157C>T (p.Leu53=)
|
|
|
|
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala)
|
|
|
|
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val)
|
|
|
|
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro)
|
|
|
|
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs)
|
|
|
|
NM_001010867.4(IBA57):c.195C>T (p.Asp65=)
|
|
|
|
NM_001010867.4(IBA57):c.208C>T (p.Leu70=)
|
|
|
|
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala)
|
rs1420144150
|
|
|
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)
|
|
|
|
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)
|
|
|
|
NM_001010867.4(IBA57):c.262dup (p.Ala88fs)
|
rs1558123212
|
|
|
NM_001010867.4(IBA57):c.264C>T (p.Ala88=)
|
|
|
|
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs)
|
rs2034846986
|
|
|
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu)
|
|
|
|
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val)
|
|
|
|
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly)
|
rs539907686
|
|
|
NM_001010867.4(IBA57):c.27C>T (p.Gly9=)
|
|
|
|
NM_001010867.4(IBA57):c.284_285insT (p.Tyr96fs)
|
|
|
|
NM_001010867.4(IBA57):c.285C>A (p.Gly95=)
|
|
|
|
NM_001010867.4(IBA57):c.285C>T (p.Gly95=)
|
rs1276192566
|
|
|
NM_001010867.4(IBA57):c.298C>T (p.Leu100=)
|
rs12132960
|
|
|
NM_001010867.4(IBA57):c.304G>A (p.Val102Met)
|
rs753218907
|
|
|
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala)
|
rs759005478
|
|
|
NM_001010867.4(IBA57):c.30C>T (p.Ala10=)
|
|
|
|
NM_001010867.4(IBA57):c.315G>A (p.Arg105=)
|
|
|
|
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser)
|
|
|
|
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe)
|
|
|
|
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser)
|
rs2034839816
|
|
|
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly)
|
|
|
|
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter)
|
rs775646159
|
|
|
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=)
|
|
|
|
NM_001010867.4(IBA57):c.33T>A (p.Thr11=)
|
|
|
|
NM_001010867.4(IBA57):c.341+1G>A
|
rs1250537283
|
|
|
NM_001010867.4(IBA57):c.341+1G>T
|
rs1250537283
|
|
|
NM_001010867.4(IBA57):c.341+20G>A
|
|
|
|
NM_001010867.4(IBA57):c.341+2T>G
|
|
|
|
NM_001010867.4(IBA57):c.341+4A>C
|
|
|
|
NM_001010867.4(IBA57):c.342-15C>T
|
|
|
|
NM_001010867.4(IBA57):c.342-488_361del
|
|
|
|
NM_001010867.4(IBA57):c.342G>C (p.Gly114=)
|
|
|
|
NM_001010867.4(IBA57):c.354C>A (p.His118Gln)
|
rs1315886237
|
|
|
NM_001010867.4(IBA57):c.372C>T (p.Phe124=)
|
|
|
|
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe)
|
|
|
|
NM_001010867.4(IBA57):c.376C>T (p.Leu126=)
|
|
|
|
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter)
|
rs1571918251
|
|
|
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg)
|
|
|
|
NM_001010867.4(IBA57):c.399G>A (p.Gln133=)
|
|
|
|
NM_001010867.4(IBA57):c.39G>A (p.Gly13=)
|
|
|
|
NM_001010867.4(IBA57):c.402C>A (p.Gly134=)
|
|
|
|
NM_001010867.4(IBA57):c.420C>G (p.Leu140=)
|
rs555630458
|
|
|
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg)
|
rs2124976596
|
|
|
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr)
|
rs2034983313
|
|
|
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp)
|
|
|
|
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter)
|
|
|
|
NM_001010867.4(IBA57):c.459G>A (p.Pro153=)
|
|
|
|
NM_001010867.4(IBA57):c.465G>C (p.Pro155=)
|
|
|
|
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs)
|
|
|
|
NM_001010867.4(IBA57):c.483G>T (p.Ala161=)
|
|
|
|
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser)
|
rs2124976694
|
|
|
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly)
|
|
|
|
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn)
|
|
|
|
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)
|
|
|
|
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg)
|
|
|
|
NM_001010867.4(IBA57):c.522G>A (p.Ser174=)
|
|
|
|
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser)
|
|
|
|
NM_001010867.4(IBA57):c.537A>C (p.Ala179=)
|
|
|
|
NM_001010867.4(IBA57):c.54C>T (p.Val18=)
|
|
|
|
NM_001010867.4(IBA57):c.567G>T (p.Pro189=)
|
rs764091126
|
|
|
NM_001010867.4(IBA57):c.585G>A (p.Gly195=)
|
rs2124976810
|
|
|
NM_001010867.4(IBA57):c.594C>T (p.Leu198=)
|
|
|
|
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser)
|
rs149136930
|
|
|
NM_001010867.4(IBA57):c.612C>G (p.Gly204=)
|
|
|
|
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg)
|
|
|
|
NM_001010867.4(IBA57):c.664C>G (p.His222Asp)
|
rs1131691510
|
|
|
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln)
|
|
|
|
NM_001010867.4(IBA57):c.680-11A>G
|
|
|
|
NM_001010867.4(IBA57):c.680-15del
|
|
|
|
NM_001010867.4(IBA57):c.680-16C>A
|
|
|
|
NM_001010867.4(IBA57):c.680-18C>G
|
|
|
|
NM_001010867.4(IBA57):c.680-6C>T
|
|
|
|
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu)
|
rs777266229
|
|
|
NM_001010867.4(IBA57):c.693G>A (p.Gly231=)
|
|
|
|
NM_001010867.4(IBA57):c.696C>A (p.Val232=)
|
|
|
|
NM_001010867.4(IBA57):c.720C>T (p.Ala240=)
|
|
|
|
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_001010867.4(IBA57):c.739C>T (p.Leu247=)
|
|
|
|
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs)
|
|
|
|
NM_001010867.4(IBA57):c.753C>T (p.Asn251=)
|
|
|
|
NM_001010867.4(IBA57):c.768C>T (p.Thr256=)
|
rs760717161
|
|
|
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu)
|
|
|
|
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys)
|
|
|
|
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr)
|
|
|
|
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys)
|
rs1332185635
|
|
|
NM_001010867.4(IBA57):c.814A>G (p.Met272Val)
|
|
|
|
NM_001010867.4(IBA57):c.825C>T (p.Ile275=)
|
|
|
|
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)
|
|
|
|
NM_001010867.4(IBA57):c.84G>A (p.Arg28=)
|
|
|
|
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser)
|
|
|
|
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met)
|
rs375395876
|
|
|
NM_001010867.4(IBA57):c.89G>A (p.Arg30His)
|
rs2034841698
|
|
|
NM_001010867.4(IBA57):c.906C>G (p.Ala302=)
|
|
|
|
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr)
|
rs1377813001
|
|
|
NM_001010867.4(IBA57):c.935del (p.Ala312fs)
|
|
|
|
NM_001010867.4(IBA57):c.948C>T (p.Asn316=)
|
|
|
|
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_001010867.4(IBA57):c.961C>T (p.Leu321=)
|
rs376206530
|
|
|
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala)
|
|
|
|
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)
|
|
|
|
NM_001010867.4(IBA57):c.987T>G (p.Gly329=)
|
|
|
|
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg)
|
rs918873125
|
|
|
NM_001017989.3(OPA3):c.414G>A (p.Ala138=)
|
rs566450630
|
|
|
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
|
rs1599947052
|
|
|
NM_001024845.3(SLC6A9):c.1002C>T (p.Ser334=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile)
|
rs149105213
|
|
|
NM_001024845.3(SLC6A9):c.1007A>G (p.Tyr336Cys)
|
|
|
|
NM_001024845.3(SLC6A9):c.1028C>T (p.Ser343Phe)
|
|
|
|
NM_001024845.3(SLC6A9):c.1053C>T (p.His351=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1060G>A (p.Val354Met)
|
|
|
|
NM_001024845.3(SLC6A9):c.1119G>A (p.Glu373=)
|
rs2154304521
|
|
|
NM_001024845.3(SLC6A9):c.1176T>C (p.Leu392=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1182G>A (p.Leu394=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1200+16C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1200+17G>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1200+5G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.1227A>G (p.Thr409=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1244T>C (p.Val415Ala)
|
|
|
|
NM_001024845.3(SLC6A9):c.1245G>A (p.Val415=)
|
rs746403752
|
|
|
NM_001024845.3(SLC6A9):c.1311G>C (p.Leu437=)
|
rs1043389439
|
|
|
NM_001024845.3(SLC6A9):c.132C>T (p.Ala44=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1335+12G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.1335+16G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.1336-9G>A
|
rs2086080391
|
|
|
NM_001024845.3(SLC6A9):c.133G>A (p.Val45Met)
|
|
|
|
NM_001024845.3(SLC6A9):c.1380C>T (p.Ser460=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1434C>T (p.Tyr478=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1435+19G>A
|
rs199700395
|
|
|
NM_001024845.3(SLC6A9):c.1435+19G>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1435G>A (p.Gly479Arg)
|
rs1557668170
|
|
|
NM_001024845.3(SLC6A9):c.1436-11dup
|
|
|
|
NM_001024845.3(SLC6A9):c.1437G>C (p.Gly479=)
|
|
|
|
NM_001024845.3(SLC6A9):c.144C>G (p.Gly48=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1524C>T (p.Pro508=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1536+11_1536+30del
|
rs549038505
|
|
|
NM_001024845.3(SLC6A9):c.1536+9C>T
|
rs780348462
|
|
|
NM_001024845.3(SLC6A9):c.1537-14C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1537-16C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1537-6G>T
|
|
|
|
NM_001024845.3(SLC6A9):c.1537-8C>T
|
rs757540868
|
|
|
NM_001024845.3(SLC6A9):c.1602C>T (p.Gly534=)
|
rs2085936509
|
|
|
NM_001024845.3(SLC6A9):c.1656C>T (p.Pro552=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1682G>A (p.Arg561His)
|
|
|
|
NM_001024845.3(SLC6A9):c.1702C>T (p.Leu568Phe)
|
rs2154304007
|
|
|
NM_001024845.3(SLC6A9):c.1708-5T>C
|
|
|
|
NM_001024845.3(SLC6A9):c.1785C>T (p.Pro595=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1787C>T (p.Thr596Ile)
|
|
|
|
NM_001024845.3(SLC6A9):c.1809C>T (p.Asp603=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1820T>A (p.Val607Asp)
|
|
|
|
NM_001024845.3(SLC6A9):c.1820T>G (p.Val607Gly)
|
|
|
|
NM_001024845.3(SLC6A9):c.1860G>T (p.Val620=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1862G>A (p.Gly621Asp)
|
|
|
|
NM_001024845.3(SLC6A9):c.1865G>T (p.Ser622Ile)
|
|
|
|
NM_001024845.3(SLC6A9):c.187+15_187+16insGCACGGGGGAGGTACCCAGTGA
|
rs775860231
|
|
|
NM_001024845.3(SLC6A9):c.187+17G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.1871_1877del (p.Gly624fs)
|
|
|
|
NM_001024845.3(SLC6A9):c.1875C>T (p.Ser625=)
|
|
|
|
NM_001024845.3(SLC6A9):c.188-7C>G
|
|
|
|
NM_001024845.3(SLC6A9):c.1887G>A (p.Gln629=)
|
|
|
|
NM_001024845.3(SLC6A9):c.1891T>G (p.Ser631Ala)
|
|
|
|
NM_001024845.3(SLC6A9):c.1894C>T (p.Arg632Trp)
|
|
|
|
NM_001024845.3(SLC6A9):c.220A>G (p.Ile74Val)
|
|
|
|
NM_001024845.3(SLC6A9):c.229G>A (p.Gly77Arg)
|
rs200456440
|
|
|
NM_001024845.3(SLC6A9):c.261C>T (p.Phe87=)
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6157A>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6164G>C
|
rs2154306852
|
|
|
NM_001024845.3(SLC6A9):c.31-6195T>C
|
rs1392773049
|
|
|
NM_001024845.3(SLC6A9):c.31-6206G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6212A>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6218C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6221G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6225G>T
|
rs201727215
|
|
|
NM_001024845.3(SLC6A9):c.31-6234G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6243C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6245G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-6251A>G
|
rs1450790373
|
|
|
NM_001024845.3(SLC6A9):c.31-674G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-676C>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-682C>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-683C>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-717C>G
|
rs1321050627
|
|
|
NM_001024845.3(SLC6A9):c.31-731A>C
|
rs746124622
|
|
|
NM_001024845.3(SLC6A9):c.31-736C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.31-757C>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-765G>C
|
|
|
|
NM_001024845.3(SLC6A9):c.31-821A>G
|
|
|
|
NM_001024845.3(SLC6A9):c.31-825G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-835G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.31-856G>C
|
|
|
|
NM_001024845.3(SLC6A9):c.31-8C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.319+13C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.329A>G (p.Tyr110Cys)
|
|
|
|
NM_001024845.3(SLC6A9):c.361A>G (p.Ile121Val)
|
|
|
|
NM_001024845.3(SLC6A9):c.408G>A (p.Ser136=)
|
|
|
|
NM_001024845.3(SLC6A9):c.449C>T (p.Pro150Leu)
|
|
|
|
NM_001024845.3(SLC6A9):c.450C>G (p.Pro150=)
|
|
|
|
NM_001024845.3(SLC6A9):c.458C>T (p.Thr153Met)
|
|
|
|
NM_001024845.3(SLC6A9):c.472G>A (p.Gly158Ser)
|
rs61741712
|
|
|
NM_001024845.3(SLC6A9):c.484G>T (p.Ala162Ser)
|
rs200984575
|
|
|
NM_001024845.3(SLC6A9):c.492C>A (p.Asn164Lys)
|
|
|
|
NM_001024845.3(SLC6A9):c.49G>A (p.Glu17Lys)
|
|
|
|
NM_001024845.3(SLC6A9):c.508C>G (p.Arg170Gly)
|
rs774340135
|
|
|
NM_001024845.3(SLC6A9):c.573C>T (p.Pro191=)
|
|
|
|
NM_001024845.3(SLC6A9):c.579G>C (p.Glu193Asp)
|
|
|
|
NM_001024845.3(SLC6A9):c.590+7C>G
|
rs1279993228
|
|
|
NM_001024845.3(SLC6A9):c.590+9C>T
|
rs752205928
|
|
|
NM_001024845.3(SLC6A9):c.591-16A>G
|
rs2154304738
|
|
|
NM_001024845.3(SLC6A9):c.622G>A (p.Gly208Arg)
|
|
|
|
NM_001024845.3(SLC6A9):c.629T>C (p.Phe210Ser)
|
|
|
|
NM_001024845.3(SLC6A9):c.641G>T (p.Arg214Leu)
|
rs201950352
|
|
|
NM_001024845.3(SLC6A9):c.645G>A (p.Leu215=)
|
rs200958790
|
|
|
NM_001024845.3(SLC6A9):c.64G>A (p.Asp22Asn)
|
rs2086539962
|
|
|
NM_001024845.3(SLC6A9):c.690C>T (p.Leu230=)
|
|
|
|
NM_001024845.3(SLC6A9):c.723+10C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.723+12T>A
|
|
|
|
NM_001024845.3(SLC6A9):c.724-16A>G
|
|
|
|
NM_001024845.3(SLC6A9):c.744G>A (p.Thr248=)
|
|
|
|
NM_001024845.3(SLC6A9):c.779G>A (p.Arg260His)
|
|
|
|
NM_001024845.3(SLC6A9):c.780C>T (p.Arg260=)
|
|
|
|
NM_001024845.3(SLC6A9):c.828C>T (p.Thr276=)
|
rs2154304674
|
|
|
NM_001024845.3(SLC6A9):c.832C>T (p.Gln278Ter)
|
rs201437896
|
|
|
NM_001024845.3(SLC6A9):c.859-6C>T
|
|
|
|
NM_001024845.3(SLC6A9):c.903C>T (p.Cys301=)
|
|
|
|
NM_001024845.3(SLC6A9):c.962+13T>C
|
|
|
|
NM_001024845.3(SLC6A9):c.962+13T>G
|
|
|
|
NM_001024845.3(SLC6A9):c.962+14G>T
|
|
|
|
NM_001024845.3(SLC6A9):c.962+19G>T
|
|
|
|
NM_001024845.3(SLC6A9):c.963-17G>A
|
|
|
|
NM_001024845.3(SLC6A9):c.963-5A>C
|
|
|
|
NM_001024845.3(SLC6A9):c.990C>T (p.Asn330=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1001G>T (p.Arg334Met)
|
|
|
|
NM_001080.3(ALDH5A1):c.1008T>C (p.Thr336=)
|
rs375086516
|
|
|
NM_001080.3(ALDH5A1):c.1014+12A>G
|
rs2127387325
|
|
|
NM_001080.3(ALDH5A1):c.1014+7C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.1015-12T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.1015-19G>A
|
rs1462649062
|
|
|
NM_001080.3(ALDH5A1):c.1015-1G>C
|
rs2127387936
|
|
|
NM_001080.3(ALDH5A1):c.1015-3C>G
|
rs2127387935
|
|
|
NM_001080.3(ALDH5A1):c.1019G>C (p.Cys340Ser)
|
rs1365441831
|
|
|
NM_001080.3(ALDH5A1):c.1020T>G (p.Cys340Trp)
|
rs887448536
|
|
|
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)
|
rs779034609
|
|
|
NM_001080.3(ALDH5A1):c.104C>G (p.Ser35Cys)
|
|
|
|
NM_001080.3(ALDH5A1):c.105C>T (p.Ser35=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1064C>T (p.Ala355Val)
|
|
|
|
NM_001080.3(ALDH5A1):c.1071A>G (p.Val357=)
|
rs2127387956
|
|
|
NM_001080.3(ALDH5A1):c.1080C>G (p.Phe360Leu)
|
rs571602201
|
|
|
NM_001080.3(ALDH5A1):c.1083C>A (p.Ala361=)
|
rs111525061
|
|
|
NM_001080.3(ALDH5A1):c.1091T>C (p.Met364Thr)
|
rs2127387964
|
|
|
NM_001080.3(ALDH5A1):c.109C>T (p.Pro37Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.1104G>A (p.Leu368=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1116T>C (p.Asn372=)
|
|
|
|
NM_001080.3(ALDH5A1):c.111_122delinsG (p.Ala38fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.1120T>G (p.Phe374Val)
|
rs1561876817
|
|
|
NM_001080.3(ALDH5A1):c.1140G>A (p.Gln380=)
|
rs1759725179
|
|
|
NM_001080.3(ALDH5A1):c.1164G>A (p.Ala388=)
|
rs553384589
|
|
|
NM_001080.3(ALDH5A1):c.1164G>C (p.Ala388=)
|
rs553384589
|
|
|
NM_001080.3(ALDH5A1):c.1164G>T (p.Ala388=)
|
rs553384589
|
|
|
NM_001080.3(ALDH5A1):c.1165G>A (p.Val389Ile)
|
|
|
|
NM_001080.3(ALDH5A1):c.1173+10T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.1173+1G>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1174-16C>T
|
rs1402795545
|
|
|
NM_001080.3(ALDH5A1):c.1174-7T>C
|
rs999796055
|
|
|
NM_001080.3(ALDH5A1):c.1176G>A (p.Val392=)
|
|
|
|
NM_001080.3(ALDH5A1):c.117C>G (p.Pro39=)
|
rs1261800997
|
|
|
NM_001080.3(ALDH5A1):c.117C>T (p.Pro39=)
|
rs1261800997
|
|
|
NM_001080.3(ALDH5A1):c.118_130dup (p.Leu44fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.120C>A (p.Gly40=)
|
|
|
|
NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)
|
rs886042931
|
|
|
NM_001080.3(ALDH5A1):c.123_127dup (p.Gln43fs)
|
rs1273153948
|
|
|
NM_001080.3(ALDH5A1):c.1243C>A (p.Leu415Ile)
|
rs1581824124
|
|
|
NM_001080.3(ALDH5A1):c.1247G>A (p.Gly416Glu)
|
|
|
|
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
|
|
|
|
NM_001080.3(ALDH5A1):c.1269C>T (p.Thr423=)
|
rs1581824153
|
|
|
NM_001080.3(ALDH5A1):c.126C>T (p.Ala42=)
|
rs944589315
|
|
|
NM_001080.3(ALDH5A1):c.1273C>T (p.Leu425=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.1294A>G (p.Met432Val)
|
rs1561879315
|
|
|
NM_001080.3(ALDH5A1):c.1298T>G (p.Leu433Arg)
|
rs1759857234
|
|
|
NM_001080.3(ALDH5A1):c.12C>T (p.Cys4=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1308T>C (p.His436=)
|
rs199500997
|
|
|
NM_001080.3(ALDH5A1):c.1319T>C (p.Phe440Ser)
|
rs1759858234
|
|
|
NM_001080.3(ALDH5A1):c.1323dup (p.Pro442fs)
|
rs1561879345
|
|
|
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser)
|
rs750638943
|
|
|
NM_001080.3(ALDH5A1):c.1325C>G (p.Pro442Arg)
|
rs2127389566
|
|
|
NM_001080.3(ALDH5A1):c.1335A>G (p.Pro445=)
|
rs1401944994
|
|
|
NM_001080.3(ALDH5A1):c.1335A>T (p.Pro445=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1338T>G (p.Val446=)
|
rs2127389573
|
|
|
NM_001080.3(ALDH5A1):c.1343+11C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1343+15C>T
|
rs2127389592
|
|
|
NM_001080.3(ALDH5A1):c.1343+19C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1343+20G>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1343+4A>G
|
rs1554137990
|
|
|
NM_001080.3(ALDH5A1):c.1343+8C>A
|
rs775916984
|
|
|
NM_001080.3(ALDH5A1):c.1343_1344insTAA (p.Ile447_Lys448insAsn)
|
rs2127389582
|
|
|
NM_001080.3(ALDH5A1):c.1344-3C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1344-4G>A
|
|
|
|
NM_001080.3(ALDH5A1):c.1344-7T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.1350T>A (p.Asp450Glu)
|
rs913676708
|
|
|
NM_001080.3(ALDH5A1):c.1351A>G (p.Thr451Ala)
|
|
|
|
NM_001080.3(ALDH5A1):c.1355AGG[2] (p.Glu454del)
|
rs1759948859
|
|
|
NM_001080.3(ALDH5A1):c.136T>C (p.Cys46Arg)
|
rs2127378931
|
|
|
NM_001080.3(ALDH5A1):c.1375G>A (p.Ala459Thr)
|
rs749276622
|
|
|
NM_001080.3(ALDH5A1):c.1375G>T (p.Ala459Ser)
|
rs749276622
|
|
|
NM_001080.3(ALDH5A1):c.1380C>T (p.Asn460=)
|
rs1191466061
|
|
|
NM_001080.3(ALDH5A1):c.138C>T (p.Cys46=)
|
rs1248918160
|
|
|
NM_001080.3(ALDH5A1):c.1390G>A (p.Val464Ile)
|
|
|
|
NM_001080.3(ALDH5A1):c.1391T>C (p.Val464Ala)
|
rs1243219538
|
|
|
NM_001080.3(ALDH5A1):c.1398A>G (p.Leu466=)
|
rs1554138222
|
|
|
NM_001080.3(ALDH5A1):c.1402+13C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.1402+1G>A
|
rs762290992
|
|
|
NM_001080.3(ALDH5A1):c.1402+1G>T
|
rs762290992
|
|
|
NM_001080.3(ALDH5A1):c.1402+2T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.1403-10C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.1403-6T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.142G>T (p.Ala48Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.1432A>T (p.Ile478Phe)
|
|
|
|
NM_001080.3(ALDH5A1):c.1462G>T (p.Gly488Cys)
|
rs1161171083
|
|
|
NM_001080.3(ALDH5A1):c.1465A>G (p.Met489Val)
|
|
|
|
NM_001080.3(ALDH5A1):c.1475T>C (p.Val492Ala)
|
rs2127391187
|
|
|
NM_001080.3(ALDH5A1):c.1488A>G (p.Leu496=)
|
rs2127391197
|
|
|
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)
|
rs999671766
|
|
|
NM_001080.3(ALDH5A1):c.1506_1521dup (p.Lys508fs)
|
rs1759979356
|
|
|
NM_001080.3(ALDH5A1):c.1514G>A (p.Gly505Asp)
|
rs1449304427
|
|
|
NM_001080.3(ALDH5A1):c.1515T>G (p.Gly505=)
|
rs2127391207
|
|
|
NM_001080.3(ALDH5A1):c.1518A>T (p.Gly506=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)
|
rs578023593
|
|
|
NM_001080.3(ALDH5A1):c.153G>C (p.Leu51=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter)
|
rs748170674
|
|
|
NM_001080.3(ALDH5A1):c.1550C>G (p.Ser517Cys)
|
|
|
|
NM_001080.3(ALDH5A1):c.1551C>A (p.Ser517=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1562T>C (p.Ile521Thr)
|
rs1475837931
|
|
|
NM_001080.3(ALDH5A1):c.1569G>A (p.Glu523=)
|
rs2127391231
|
|
|
NM_001080.3(ALDH5A1):c.156G>C (p.Ala52=)
|
|
|
|
NM_001080.3(ALDH5A1):c.156G>T (p.Ala52=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1579C>T (p.Leu527Phe)
|
|
|
|
NM_001080.3(ALDH5A1):c.1580T>C (p.Leu527Pro)
|
rs1467346651
|
|
|
NM_001080.3(ALDH5A1):c.1588G>A (p.Val530Met)
|
|
|
|
NM_001080.3(ALDH5A1):c.1590G>C (p.Val530=)
|
|
|
|
NM_001080.3(ALDH5A1):c.1591T>C (p.Cys531Arg)
|
rs2127391249
|
|
|
NM_001080.3(ALDH5A1):c.1603T>A (p.Leu535Met)
|
|
|
|
NM_001080.3(ALDH5A1):c.1607A>T (p.Ter536Leu)
|
rs1338198433
|
|
|
NM_001080.3(ALDH5A1):c.161_163dup (p.Leu54_Ser55insPhe)
|
|
|
|
NM_001080.3(ALDH5A1):c.166G>C (p.Ala56Pro)
|
rs2127378973
|
|
|
NM_001080.3(ALDH5A1):c.168G>C (p.Ala56=)
|
rs371548862
|
|
|
NM_001080.3(ALDH5A1):c.170dup (p.Leu58fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.172C>T (p.Leu58=)
|
|
|
|
NM_001080.3(ALDH5A1):c.176T>G (p.Leu59Arg)
|
rs1001493071
|
|
|
NM_001080.3(ALDH5A1):c.180C>T (p.Arg60=)
|
|
|
|
NM_001080.3(ALDH5A1):c.183C>A (p.Thr61=)
|
rs776791710
|
|
|
NM_001080.3(ALDH5A1):c.183C>T (p.Thr61=)
|
|
|
|
NM_001080.3(ALDH5A1):c.205T>C (p.Trp69Arg)
|
rs1333816263
|
|
|
NM_001080.3(ALDH5A1):c.208C>G (p.Leu70Val)
|
rs886061268
|
|
|
NM_001080.3(ALDH5A1):c.210C>T (p.Leu70=)
|
|
|
|
NM_001080.3(ALDH5A1):c.216C>T (p.Ala72=)
|
|
|
|
NM_001080.3(ALDH5A1):c.219C>T (p.Ala73=)
|
|
|
|
NM_001080.3(ALDH5A1):c.225C>T (p.Thr75=)
|
rs1581800805
|
|
|
NM_001080.3(ALDH5A1):c.232G>A (p.Val78Met)
|
rs1001529759
|
|
|
NM_001080.3(ALDH5A1):c.243G>C (p.Pro81=)
|
|
|
|
NM_001080.3(ALDH5A1):c.244G>A (p.Ala82Thr)
|
|
|
|
NM_001080.3(ALDH5A1):c.244_251del (p.Ala82fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.24G>C (p.Arg8=)
|
|
|
|
NM_001080.3(ALDH5A1):c.24G>T (p.Arg8=)
|
rs1427888209
|
|
|
NM_001080.3(ALDH5A1):c.250G>A (p.Gly84Ser)
|
rs1034294766
|
|
|
NM_001080.3(ALDH5A1):c.250G>C (p.Gly84Arg)
|
rs1034294766
|
|
|
NM_001080.3(ALDH5A1):c.264C>A (p.Gly88=)
|
rs759932020
|
|
|
NM_001080.3(ALDH5A1):c.264C>T (p.Gly88=)
|
rs759932020
|
|
|
NM_001080.3(ALDH5A1):c.269T>C (p.Val90Ala)
|
|
|
|
NM_001080.3(ALDH5A1):c.270A>T (p.Val90=)
|
rs2127379071
|
|
|
NM_001080.3(ALDH5A1):c.273C>G (p.Ala91=)
|
rs1206650969
|
|
|
NM_001080.3(ALDH5A1):c.274G>A (p.Asp92Asn)
|
|
|
|
NM_001080.3(ALDH5A1):c.27C>G (p.Ser9Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.280G>T (p.Gly94Trp)
|
rs1764672993
|
|
|
NM_001080.3(ALDH5A1):c.288A>G (p.Arg96=)
|
rs1554135737
|
|
|
NM_001080.3(ALDH5A1):c.28T>A (p.Cys10Ser)
|
rs1011665766
|
|
|
NM_001080.3(ALDH5A1):c.291G>C (p.Glu97Asp)
|
rs973569793
|
|
|
NM_001080.3(ALDH5A1):c.297C>T (p.Arg99=)
|
rs1764673975
|
|
|
NM_001080.3(ALDH5A1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001080.3(ALDH5A1):c.300_311del (p.Val102_Ala105del)
|
rs1283990436
|
|
|
NM_001080.3(ALDH5A1):c.303C>T (p.Ala101=)
|
rs764445443
|
|
|
NM_001080.3(ALDH5A1):c.304G>A (p.Val102Met)
|
rs1444935451
|
|
|
NM_001080.3(ALDH5A1):c.304G>C (p.Val102Leu)
|
rs1444935451
|
|
|
NM_001080.3(ALDH5A1):c.306G>T (p.Val102=)
|
|
|
|
NM_001080.3(ALDH5A1):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_001080.3(ALDH5A1):c.307_308insA (p.Arg103fs)
|
rs1764674805
|
|
|
NM_001080.3(ALDH5A1):c.315C>T (p.Ala105=)
|
|
|
|
NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter)
|
rs985818920
|
|
|
NM_001080.3(ALDH5A1):c.320A>G (p.Glu107Gly)
|
|
|
|
NM_001080.3(ALDH5A1):c.324T>C (p.Ala108=)
|
|
|
|
NM_001080.3(ALDH5A1):c.331C>A (p.Arg111Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter)
|
rs1764675949
|
|
|
NM_001080.3(ALDH5A1):c.338G>A (p.Arg113Lys)
|
rs1581801085
|
|
|
NM_001080.3(ALDH5A1):c.341A>C (p.Glu114Ala)
|
|
|
|
NM_001080.3(ALDH5A1):c.341A>G (p.Glu114Gly)
|
rs1370936799
|
|
|
NM_001080.3(ALDH5A1):c.345C>G (p.Val115=)
|
|
|
|
NM_001080.3(ALDH5A1):c.34dup (p.Ala12fs)
|
rs1397344379
|
|
|
NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter)
|
rs2127379151
|
|
|
NM_001080.3(ALDH5A1):c.354+11C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.354+11C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.354+13G>T
|
|
|
|
NM_001080.3(ALDH5A1):c.354+16T>G
|
rs928290089
|
|
|
NM_001080.3(ALDH5A1):c.354+18C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.354+19A>G
|
|
|
|
NM_001080.3(ALDH5A1):c.354+23_354+24dup
|
|
|
|
NM_001080.3(ALDH5A1):c.354+3GA[2]
|
rs1554135757
|
|
|
NM_001080.3(ALDH5A1):c.355-16G>A
|
|
|
|
NM_001080.3(ALDH5A1):c.355-18T>A
|
|
|
|
NM_001080.3(ALDH5A1):c.355-19C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.355-20C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.355-3C>T
|
rs1759217851
|
|
|
NM_001080.3(ALDH5A1):c.355-6T>C
|
rs1759214273
|
|
|
NM_001080.3(ALDH5A1):c.366A>G (p.Ser122=)
|
|
|
|
NM_001080.3(ALDH5A1):c.367T>C (p.Leu123=)
|
rs1361924610
|
|
|
NM_001080.3(ALDH5A1):c.373C>T (p.Arg125Trp)
|
rs201082048
|
|
|
NM_001080.3(ALDH5A1):c.374_375insTGGTACAATTTAATGATAC (p.Arg125_Lys126insGlyThrIleTer)
|
|
|
|
NM_001080.3(ALDH5A1):c.375G>A (p.Arg125=)
|
|
|
|
NM_001080.3(ALDH5A1):c.375G>C (p.Arg125=)
|
|
|
|
NM_001080.3(ALDH5A1):c.377A>G (p.Lys126Arg)
|
rs1759219662
|
|
|
NM_001080.3(ALDH5A1):c.379_380del (p.Trp127fs)
|
rs2127382173
|
|
|
NM_001080.3(ALDH5A1):c.37C>T (p.Arg13Trp)
|
rs766443938
|
|
|
NM_001080.3(ALDH5A1):c.388T>C (p.Leu130=)
|
|
|
|
NM_001080.3(ALDH5A1):c.396A>T (p.Ile132=)
|
|
|
|
NM_001080.3(ALDH5A1):c.402T>C (p.Asn134=)
|
rs777804457
|
|
|
NM_001080.3(ALDH5A1):c.410A>T (p.Asp137Val)
|
rs2127382180
|
|
|
NM_001080.3(ALDH5A1):c.424_425del (p.Ile142fs)
|
rs760542761
|
|
|
NM_001080.3(ALDH5A1):c.424del (p.Ile142fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.42C>T (p.Arg14=)
|
rs2127378795
|
|
|
NM_001080.3(ALDH5A1):c.438+11G>A
|
|
|
|
NM_001080.3(ALDH5A1):c.438+1G>A
|
|
|
|
NM_001080.3(ALDH5A1):c.439-11A>G
|
rs2127382395
|
|
|
NM_001080.3(ALDH5A1):c.439-13T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.439-18T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.44T>G (p.Leu15Arg)
|
rs535285968
|
|
|
NM_001080.3(ALDH5A1):c.460C>T (p.His154Tyr)
|
rs2127382406
|
|
|
NM_001080.3(ALDH5A1):c.464G>A (p.Gly155Glu)
|
rs1554136421
|
|
|
NM_001080.3(ALDH5A1):c.46G>A (p.Gly16Arg)
|
rs1224797369
|
|
|
NM_001080.3(ALDH5A1):c.46G>C (p.Gly16Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.474C>G (p.Leu158=)
|
|
|
|
NM_001080.3(ALDH5A1):c.518G>C (p.Arg173Pro)
|
|
|
|
NM_001080.3(ALDH5A1):c.518G>T (p.Arg173Leu)
|
rs369366567
|
|
|
NM_001080.3(ALDH5A1):c.523T>C (p.Tyr175His)
|
|
|
|
NM_001080.3(ALDH5A1):c.534T>A (p.Ile178=)
|
rs2127382448
|
|
|
NM_001080.3(ALDH5A1):c.539A>G (p.His180Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.544_545delinsGT (p.Pro182Val)
|
rs2127382457
|
|
|
NM_001080.3(ALDH5A1):c.546G>A (p.Pro182=)
|
rs779987239
|
|
|
NM_001080.3(ALDH5A1):c.54G>T (p.Thr18=)
|
rs1254730579
|
|
|
NM_001080.3(ALDH5A1):c.562G>A (p.Ala188Thr)
|
rs1287321413
|
|
|
NM_001080.3(ALDH5A1):c.564C>T (p.Ala188=)
|
|
|
|
NM_001080.3(ALDH5A1):c.565C>T (p.Leu189=)
|
rs1064796918
|
|
|
NM_001080.3(ALDH5A1):c.566_567insTTGCCCT (p.Val190fs)
|
rs755029414
|
|
|
NM_001080.3(ALDH5A1):c.567G>C (p.Leu189=)
|
|
|
|
NM_001080.3(ALDH5A1):c.56T>C (p.Phe19Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)
|
|
|
|
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)
|
rs145208127
|
|
|
NM_001080.3(ALDH5A1):c.58C>G (p.Pro20Ala)
|
rs1561865558
|
|
|
NM_001080.3(ALDH5A1):c.5C>T (p.Ala2Val)
|
|
|
|
NM_001080.3(ALDH5A1):c.609+15C>T
|
rs1759252599
|
|
|
NM_001080.3(ALDH5A1):c.609+20A>G
|
rs1759252699
|
|
|
NM_001080.3(ALDH5A1):c.610-12T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.610-13C>T
|
|
|
|
NM_001080.3(ALDH5A1):c.610-17T>A
|
|
|
|
NM_001080.3(ALDH5A1):c.610-4C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.621del (p.Ser208fs)
|
rs1306678453
|
|
|
NM_001080.3(ALDH5A1):c.625G>A (p.Ala209Thr)
|
|
|
|
NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)
|
|
|
|
NM_001080.3(ALDH5A1):c.638G>A (p.Arg213Gln)
|
|
|
|
NM_001080.3(ALDH5A1):c.63C>G (p.Gly21=)
|
|
|
|
NM_001080.3(ALDH5A1):c.643G>A (p.Val215Met)
|
|
|
|
NM_001080.3(ALDH5A1):c.660_666del (p.Ala221fs)
|
rs2127382929
|
|
|
NM_001080.3(ALDH5A1):c.663C>A (p.Ala221=)
|
rs760461822
|
|
|
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.671C>A (p.Thr224Asn)
|
rs2127382947
|
|
|
NM_001080.3(ALDH5A1):c.676G>C (p.Val226Leu)
|
|
|
|
NM_001080.3(ALDH5A1):c.676G>T (p.Val226Leu)
|
rs770884090
|
|
|
NM_001080.3(ALDH5A1):c.678G>A (p.Val226=)
|
rs113591366
|
|
|
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=)
|
rs113591366
|
|
|
NM_001080.3(ALDH5A1):c.685C>A (p.Pro229Thr)
|
|
|
|
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)
|
|
|
|
NM_001080.3(ALDH5A1):c.699G>A (p.Thr233=)
|
|
|
|
NM_001080.3(ALDH5A1):c.702C>T (p.Pro234=)
|
rs934316238
|
|
|
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)
|
rs62621664
|
|
|
NM_001080.3(ALDH5A1):c.709G>T (p.Ala237Ser)
|
rs62621664
|
|
|
NM_001080.3(ALDH5A1):c.718C>G (p.Leu240Val)
|
rs1759310167
|
|
|
NM_001080.3(ALDH5A1):c.71_76dup (p.Leu24_Arg25dup)
|
rs2127378831
|
|
|
NM_001080.3(ALDH5A1):c.726+11C>G
|
|
|
|
NM_001080.3(ALDH5A1):c.726+17G>T
|
|
|
|
NM_001080.3(ALDH5A1):c.726+7_726+8delinsAA
|
|
|
|
NM_001080.3(ALDH5A1):c.727-15_727-14inv
|
|
|
|
NM_001080.3(ALDH5A1):c.727-18_733del
|
|
|
|
NM_001080.3(ALDH5A1):c.73C>G (p.Arg25Gly)
|
|
|
|
NM_001080.3(ALDH5A1):c.753A>C (p.Ser251=)
|
|
|
|
NM_001080.3(ALDH5A1):c.758T>C (p.Val253Ala)
|
rs1201676111
|
|
|
NM_001080.3(ALDH5A1):c.75C>A (p.Arg25=)
|
rs755799999
|
|
|
NM_001080.3(ALDH5A1):c.760T>C (p.Tyr254His)
|
rs2127385849
|
|
|
NM_001080.3(ALDH5A1):c.761A>G (p.Tyr254Cys)
|
rs749228768
|
|
|
NM_001080.3(ALDH5A1):c.762del (p.Val253_Tyr254insTer)
|
|
|
|
NM_001080.3(ALDH5A1):c.763A>C (p.Asn255His)
|
rs2127385854
|
|
|
NM_001080.3(ALDH5A1):c.765dup (p.Val256fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.768T>C (p.Val256=)
|
|
|
|
NM_001080.3(ALDH5A1):c.782G>A (p.Arg261Gln)
|
rs772361710
|
|
|
NM_001080.3(ALDH5A1):c.799G>T (p.Val267Leu)
|
rs1759546145
|
|
|
NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)
|
rs779798309
|
|
|
NM_001080.3(ALDH5A1):c.79C>T (p.Arg27Cys)
|
rs779798309
|
|
|
NM_001080.3(ALDH5A1):c.79del (p.Arg27fs)
|
|
|
|
NM_001080.3(ALDH5A1):c.80G>A (p.Arg27His)
|
rs749120771
|
|
|
NM_001080.3(ALDH5A1):c.820G>C (p.Asp274His)
|
|
|
|
NM_001080.3(ALDH5A1):c.826C>G (p.Leu276Val)
|
|
|
|
NM_001080.3(ALDH5A1):c.82G>A (p.Ala28Thr)
|
rs1227540131
|
|
|
NM_001080.3(ALDH5A1):c.844T>G (p.Phe282Val)
|
rs2127385891
|
|
|
NM_001080.3(ALDH5A1):c.852T>C (p.Gly284=)
|
|
|
|
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter)
|
rs2127385894
|
|
|
NM_001080.3(ALDH5A1):c.855A>G (p.Ser285=)
|
rs1759548147
|
|
|
NM_001080.3(ALDH5A1):c.85G>A (p.Gly29Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.86G>A (p.Gly29Asp)
|
rs768533338
|
|
|
NM_001080.3(ALDH5A1):c.86G>C (p.Gly29Ala)
|
rs768533338
|
|
|
NM_001080.3(ALDH5A1):c.870+15T>C
|
rs2127385913
|
|
|
NM_001080.3(ALDH5A1):c.870+4T>A
|
rs1447034711
|
|
|
NM_001080.3(ALDH5A1):c.870+8A>T
|
|
|
|
NM_001080.3(ALDH5A1):c.870+9C>T
|
rs1314010241
|
|
|
NM_001080.3(ALDH5A1):c.871-11T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.871-19T>C
|
|
|
|
NM_001080.3(ALDH5A1):c.871-6T>C
|
rs1399527090
|
|
|
NM_001080.3(ALDH5A1):c.87C>T (p.Gly29=)
|
rs1581800500
|
|
|
NM_001080.3(ALDH5A1):c.881A>C (p.His294Pro)
|
rs771163119
|
|
|
NM_001080.3(ALDH5A1):c.88G>T (p.Gly30Cys)
|
rs1171926592
|
|
|
NM_001080.3(ALDH5A1):c.896C>A (p.Ser299Tyr)
|
rs2127387282
|
|
|
NM_001080.3(ALDH5A1):c.896_897del (p.Ser299fs)
|
rs2127387279
|
|
|
NM_001080.3(ALDH5A1):c.897T>C (p.Ser299=)
|
rs533586467
|
|
|
NM_001080.3(ALDH5A1):c.913A>G (p.Met305Val)
|
|
|
|
NM_001080.3(ALDH5A1):c.921G>C (p.Leu307=)
|
|
|
|
NM_001080.3(ALDH5A1):c.929T>G (p.Leu310Arg)
|
|
|
|
NM_001080.3(ALDH5A1):c.932C>G (p.Ala311Gly)
|
rs752467613
|
|
|
NM_001080.3(ALDH5A1):c.934C>G (p.Pro312Ala)
|
|
|
|
NM_001080.3(ALDH5A1):c.936A>G (p.Pro312=)
|
|
|
|
NM_001080.3(ALDH5A1):c.93G>T (p.Leu31=)
|
rs920257954
|
|
|
NM_001080.3(ALDH5A1):c.943G>A (p.Val315Ile)
|
|
|
|
NM_001080.3(ALDH5A1):c.959A>G (p.Asn320Ser)
|
rs570262377
|
|
|
NM_001080.3(ALDH5A1):c.966C>T (p.Asp322=)
|
|
|
|
NM_001080.3(ALDH5A1):c.971C>T (p.Ala324Val)
|
rs1759659944
|
|
|
NM_001080.3(ALDH5A1):c.97C>T (p.Pro33Ser)
|
|
|
|
NM_001080.3(ALDH5A1):c.983C>T (p.Ala328Val)
|
rs1043375819
|
|
|
NM_001080.3(ALDH5A1):c.985A>G (p.Met329Val)
|
rs1581818516
|
|
|
NM_001080.3(ALDH5A1):c.98C>T (p.Pro33Leu)
|
|
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
|
NM_001127221.1(CACNA1A):c.6309_6311delGAG
|
rs750511224
|
|
|
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
|
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1014G>A (p.Leu338=)
|
|
|
|
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1026C>G (p.Pro342=)
|
rs1412349338
|
|
|
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)
|
rs779827819
|
|
|
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser)
|
rs977960069
|
|
|
NM_001127222.2(CACNA1A):c.1044C>T (p.Ser348=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1054C>T (p.Leu352=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1059C>A (p.Asn353Lys)
|
rs1568546593
|
|
|
NM_001127222.2(CACNA1A):c.1067T>C (p.Leu356Pro)
|
rs1568546568
|
|
|
NM_001127222.2(CACNA1A):c.1082+17C>T
|
rs992037503
|
|
|
NM_001127222.2(CACNA1A):c.1082+19C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1082+1G>A
|
rs1272886269
|
|
|
NM_001127222.2(CACNA1A):c.1082+20C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-12A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-20G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
|
NM_001127222.2(CACNA1A):c.110G>A (p.Arg37Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs)
|
rs2145192572
|
|
|
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln)
|
rs2145132803
|
|
|
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=)
|
rs2145132791
|
|
|
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=)
|
rs2145132777
|
|
|
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg)
|
rs2058521134
|
|
|
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
|
NM_001127222.2(CACNA1A):c.1170T>C (p.Asn390=)
|
rs768768744
|
|
|
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1198+15T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1198+16C>A
|
rs375761179
|
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
|
NM_001127222.2(CACNA1A):c.1198+5G>A
|
rs1568544895
|
|
|
NM_001127222.2(CACNA1A):c.1199-12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1199-17G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=)
|
rs2145126158
|
|
|
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=)
|
rs540579196
|
|
|
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=)
|
rs1346992540
|
|
|
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=)
|
rs1346992540
|
|
|
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly)
|
rs2058491087
|
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
|
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser)
|
rs763099796
|
|
|
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser)
|
rs371138043
|
|
|
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs)
|
rs1600353301
|
|
|
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+11T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+3A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+9T>C
|
rs759656495
|
|
|
NM_001127222.2(CACNA1A):c.1256-10A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1256-19C>T
|
rs1473736417
|
|
|
NM_001127222.2(CACNA1A):c.1256-6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg)
|
rs1225290298
|
|
|
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=)
|
rs758153051
|
|
|
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=)
|
rs376451601
|
|
|
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
|
|
|
|
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+15C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+1G>A
|
rs2145114772
|
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg)
|
rs1194605924
|
|
|
NM_001127222.2(CACNA1A):c.1346-11T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-7C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)
|
rs886039668
|
|
|
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn)
|
rs768383869
|
|
|
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=)
|
rs762652214
|
|
|
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=)
|
rs374307014
|
|
|
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs)
|
rs1568528298
|
|
|
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn)
|
rs369920914
|
|
|
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=)
|
rs756358571
|
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
|
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys)
|
rs2145051308
|
|
|
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter)
|
rs767432719
|
|
|
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs)
|
rs1555762908
|
|
|
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu)
|
rs763944721
|
|
|
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=)
|
rs2058145379
|
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
|
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter)
|
rs1568528144
|
|
|
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=)
|
rs373192672
|
|
|
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs)
|
rs1555762855
|
|
|
NM_001127222.2(CACNA1A):c.1533C>A (p.Pro511=)
|
rs751539123
|
|
|
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=)
|
rs751539123
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
|
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
|
rs2058143736
|
|
|
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+15G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+2del
|
rs1600313212
|
|
|
NM_001127222.2(CACNA1A):c.1556-12_1556-10del
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>T
|
rs1455004036
|
|
|
NM_001127222.2(CACNA1A):c.1556-5T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1556-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1577T>G (p.Leu526Ter)
|
rs2145030772
|
|
|
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu)
|
rs2058058208
|
|
|
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val)
|
rs374764234
|
|
|
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=)
|
|
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=)
|
rs1225327012
|
|
|
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)
|
rs2145030587
|
|
|
NM_001127222.2(CACNA1A):c.1617del (p.Thr542fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=)
|
rs375628894
|
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
|
rs1427473572
|
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
|
NM_001127222.2(CACNA1A):c.1663T>C (p.Cys555Arg)
|
rs1600303388
|
|
|
NM_001127222.2(CACNA1A):c.1668+13G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1668+7G>A
|
rs567507041
|
|
|
NM_001127222.2(CACNA1A):c.1669-3T>C
|
rs750090822
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=)
|
rs1600293357
|
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
|
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp)
|
rs1982997781
|
|
|
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter)
|
rs1555759066
|
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
|
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly)
|
rs2145005615
|
|
|
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter)
|
rs2057953268
|
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
|
NM_001127222.2(CACNA1A):c.1748C>T (p.Ala583Val)
|
rs2145005553
|
|
|
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
|
|
|
|
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=)
|
rs2145005492
|
|
|
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+7C>T
|
rs202005119
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
|
NM_001127222.2(CACNA1A):c.1782-14G>C
|
rs2145004534
|
|
|
NM_001127222.2(CACNA1A):c.1782-17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1782-19G>A
|
rs745683117
|
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
|
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=)
|
rs2057948502
|
|
|
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro)
|
rs2057948232
|
|
|
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=)
|
rs2145192414
|
|
|
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe)
|
rs2057947991
|
|
|
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile)
|
rs2145004244
|
|
|
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=)
|
rs374686479
|
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
|
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
|
|
|
|
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
|
|
|
|
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
|
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
|
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=)
|
rs2145003982
|
|
|
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val)
|
rs121908246
|
|
|
NM_001127222.2(CACNA1A):c.1913+10T>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+15G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+16G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1913+1G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-15G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-20T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1914-5T>C
|
rs2145002415
|
|
|
NM_001127222.2(CACNA1A):c.1914-7C>T
|
rs2145002450
|
|
|
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu)
|
rs2145192387
|
|
|
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu)
|
rs2057937902
|
|
|
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=)
|
rs1600291631
|
|
|
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val)
|
rs375173544
|
|
|
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=)
|
rs2145002214
|
|
|
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys)
|
rs2145002206
|
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
|
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met)
|
rs2145002166
|
|
|
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del)
|
rs2057937382
|
|
|
NM_001127222.2(CACNA1A):c.1986+14C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1986+16G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1986+19C>A
|
rs2145001986
|
|
|
NM_001127222.2(CACNA1A):c.1986+6G>A
|
rs1791823785
|
|
|
NM_001127222.2(CACNA1A):c.1987-12C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1987-16C>A
|
rs1057523685
|
|
|
NM_001127222.2(CACNA1A):c.1987-17T>C
|
rs2144981058
|
|
|
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)
|
rs2057842904
|
|
|
NM_001127222.2(CACNA1A):c.199G>A (p.Val67Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys)
|
rs1434942721
|
|
|
NM_001127222.2(CACNA1A):c.2016C>T (p.Val672=)
|
|
|
|
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter)
|
rs940460024
|
|
|
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn)
|
rs906669300
|
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
|
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs)
|
rs1555757523
|
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
|
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
|
|
|
|
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
|
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)
|
rs749526415
|
|
|
NM_001127222.2(CACNA1A):c.2104+10A>G
|
rs2057840734
|
|
|
NM_001127222.2(CACNA1A):c.2105-5dup
|
rs2144979466
|
|
|
NM_001127222.2(CACNA1A):c.2105-9C>G
|
rs1392079452
|
|
|
NM_001127222.2(CACNA1A):c.2105-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe)
|
rs2057837052
|
|
|
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser)
|
rs1600283133
|
|
|
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys)
|
rs2057836849
|
|
|
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser)
|
rs2057836815
|
|
|
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)
|
rs886041654
|
|
|
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)
|
rs1568514116
|
|
|
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=)
|
rs764839814
|
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
|
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
|
|
|
|
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly)
|
rs2057836063
|
|
|
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr)
|
rs2144979185
|
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
|
NM_001127222.2(CACNA1A):c.2172+16G>A
|
rs895983254
|
|
|
NM_001127222.2(CACNA1A):c.2172+7G>C
|
rs1600282994
|
|
|
NM_001127222.2(CACNA1A):c.2172+7G>T
|
rs1600282994
|
|
|
NM_001127222.2(CACNA1A):c.2173-11G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.2173-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=)
|
rs2144964768
|
|
|
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter)
|
rs1555756737
|
|
|
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro)
|
rs2057767797
|
|
|
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=)
|
rs2144964550
|
|
|
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly)
|
rs1248327304
|
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
|
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=)
|
rs764816582
|
|
|
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys)
|
rs1982991598
|
|
|
NM_001127222.2(CACNA1A):c.2279+12T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.2280-12A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.2280-17dup
|
rs2144958686
|
|
|
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val)
|
rs2057740662
|
|
|
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)
|
rs2144958410
|
|
|
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs)
|
rs1555756461
|
|
|
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys)
|
rs2144958254
|
|
|
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr)
|
rs372715067
|
|
|
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=)
|
rs1555756457
|
|
|
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=)
|
rs1982990940
|
|
|
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
|
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys)
|
rs2144958094
|
|
|
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs)
|
rs2057739636
|
|
|
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val)
|
rs2145192231
|
|
|
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del)
|
rs1568719711
|
|
|
NM_001127222.2(CACNA1A):c.2371G>A (p.Glu791Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser)
|
rs753248182
|
|
|
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe)
|
rs1374890716
|
|
|
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=)
|
rs1299468325
|
|
|
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn)
|
rs1380195853
|
|
|
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=)
|
rs376074188
|
|
|
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter)
|
rs1231997862
|
|
|
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter)
|
rs1600274038
|
|
|
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser)
|
rs772177961
|
|
|
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln)
|
rs2057737782
|
|
|
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu)
|
rs953797733
|
|
|
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=)
|
rs2144957398
|
|
|
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=)
|
rs201998077
|
|
|
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met)
|
rs2144957270
|
|
|
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp)
|
rs755434242
|
|
|
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser)
|
rs1464680327
|
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
|
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del)
|
rs750962335
|
|
|
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg)
|
rs1293855171
|
|
|
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile)
|
rs2057735935
|
|
|
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)
|
rs767534576
|
|
|
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met)
|
rs1168020406
|
|
|
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)
|
rs1420078244
|
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser)
|
rs746902081
|
|
|
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)
|
rs1600273534
|
|
|
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
|
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=)
|
rs2144956514
|
|
|
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu)
|
rs1407784551
|
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
|
NM_001127222.2(CACNA1A):c.2586C>G (p.Ala862=)
|
rs1390932807
|
|
|
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser)
|
rs777076641
|
|
|
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=)
|
rs1463277441
|
|
|
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=)
|
rs2057733890
|
|
|
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)
|
rs754326939
|
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
|
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
|
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=)
|
rs761874927
|
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
|
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val)
|
rs2057732636
|
|
|
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=)
|
rs759401764
|
|
|
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=)
|
rs1205064338
|
|
|
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln)
|
rs1171365113
|
|
|
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg)
|
rs1358948688
|
|
|
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu)
|
rs121908242
|
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
|
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=)
|
|
|
|
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr)
|
rs2057730771
|
|
|
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu)
|
rs1446752227
|
|
|
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=)
|
rs1446752227
|
|
|
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro)
|
rs1600272904
|
|
|
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln)
|
rs953766694
|
|
|
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=)
|
rs987547951
|
|
|
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.2742G>A (p.Gly914=)
|
rs2144955190
|
|
|
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys)
|
rs1555756130
|
|
|
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter)
|
rs1555756130
|
|
|
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup)
|
rs2057728868
|
|
|
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2776G>A (p.Gly926Arg)
|
rs1337217129
|
|
|
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=)
|
rs1035531839
|
|
|
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=)
|
rs2144954801
|
|
|
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=)
|
rs1555756078
|
|
|
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=)
|
rs772941423
|
|
|
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp)
|
rs931394162
|
|
|
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=)
|
rs1002026253
|
|
|
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu)
|
rs1318353774
|
|
|
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His)
|
rs1439845382
|
|
|
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
|
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)
|
rs747413278
|
|
|
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys)
|
rs1439559578
|
|
|
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2837_2844del (p.Ser946fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs)
|
rs2144954299
|
|
|
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs)
|
rs1555755977
|
|
|
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=)
|
rs2144954181
|
|
|
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu)
|
rs2057726092
|
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
|
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr)
|
rs2057725846
|
|
|
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=)
|
rs1245624754
|
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
|
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=)
|
rs1600272032
|
|
|
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=)
|
rs1443085599
|
|
|
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=)
|
rs1555755942
|
|
|
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=)
|
rs771351347
|
|
|
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg)
|
rs1473069840
|
|
|
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=)
|
rs1057522107
|
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
|
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu)
|
rs2144953620
|
|
|
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
|
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly)
|
rs1555755916
|
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
|
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=)
|
rs1361813971
|
|
|
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln)
|
rs748418783
|
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
|
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val)
|
rs1432898385
|
|
|
NM_001127222.2(CACNA1A):c.2937C>T (p.His979=)
|
rs1600271774
|
|
|
NM_001127222.2(CACNA1A):c.293C>T (p.Pro98Leu)
|
rs2145192098
|
|
|
NM_001127222.2(CACNA1A):c.294-15T>A
|
rs1329913453
|
|
|
NM_001127222.2(CACNA1A):c.294-1C>A
|
rs1568662077
|
|
|
NM_001127222.2(CACNA1A):c.294-6C>A
|
rs764502828
|
|
|
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser)
|
rs1367737519
|
|
|
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=)
|
rs749357610
|
|
|
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr)
|
rs376228771
|
|
|
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val)
|
rs2144953042
|
|
|
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp)
|
rs1489702072
|
|
|
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)
|
rs955869211
|
|
|
NM_001127222.2(CACNA1A):c.2962G>A (p.Gly988Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val)
|
rs2144952921
|
|
|
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del)
|
rs2144952654
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2973C>G (p.Gly991=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln)
|
rs2057722066
|
|
|
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)
|
rs1600271575
|
|
|
NM_001127222.2(CACNA1A):c.2982G>C (p.Glu994Asp)
|
rs2144952767
|
|
|
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup)
|
rs2057721057
|
|
|
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val)
|
rs1002778568
|
|
|
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=)
|
rs1051973
|
|
|
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg)
|
rs750356248
|
|
|
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
|
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
|
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
|
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp)
|
rs1175036875
|
|
|
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer)
|
rs2144952476
|
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
|
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
|
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=)
|
|
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
|
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=)
|
rs2144952263
|
|
|
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met)
|
rs573941336
|
|
|
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=)
|
rs1302148060
|
|
|
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp)
|
rs868354475
|
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
|
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=)
|
rs2057719000
|
|
|
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln)
|
rs762288499
|
|
|
NM_001127222.2(CACNA1A):c.3067G>A (p.Glu1023Lys)
|
rs1555755809
|
|
|
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=)
|
rs1180851544
|
|
|
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg)
|
rs2057717972
|
|
|
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly)
|
rs1064794406
|
|
|
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+10G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+15C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+1G>A
|
rs2057717676
|
|
|
NM_001127222.2(CACNA1A):c.3089+4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3090-10C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3090-3C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
|
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser)
|
rs1600246766
|
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
|
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs)
|
rs2144889523
|
|
|
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=)
|
rs745981005
|
|
|
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
|
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys)
|
rs1187232740
|
|
|
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His)
|
rs2144889174
|
|
|
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala)
|
rs1600246526
|
|
|
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg)
|
rs763400188
|
|
|
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=)
|
rs1480156688
|
|
|
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys)
|
rs1369614864
|
|
|
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=)
|
|
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
|
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
|
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=)
|
rs749854221
|
|
|
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met)
|
rs2144947382
|
|
|
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3266G>T (p.Gly1089Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs)
|
rs2144888569
|
|
|
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=)
|
rs1555752995
|
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
|
NM_001127222.2(CACNA1A):c.3307C>T (p.Pro1103Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=)
|
rs375486960
|
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
|
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
|
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=)
|
rs752384911
|
|
|
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
|
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
|
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=)
|
|
|
|
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln)
|
rs754208553
|
|
|
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup)
|
rs770648017
|
|
|
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe)
|
rs2144887797
|
|
|
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=)
|
rs751649216
|
|
|
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser)
|
rs764131315
|
|
|
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3411C>A (p.Pro1137=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=)
|
rs770525318
|
|
|
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)
|
rs746790849
|
|
|
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg)
|
rs746555911
|
|
|
NM_001127222.2(CACNA1A):c.3413A>T (p.Lys1138Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=)
|
rs1600245661
|
|
|
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe)
|
rs2057405997
|
|
|
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
|
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile)
|
rs992828062
|
|
|
NM_001127222.2(CACNA1A):c.346G>A (p.Ala116Thr)
|
rs778725158
|
|
|
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
|
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
|
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=)
|
rs771567638
|
|
|
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=)
|
rs2060983904
|
|
|
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=)
|
rs1436962839
|
|
|
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
|
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr)
|
rs1458640910
|
|
|
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=)
|
rs2057403294
|
|
|
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3530C>A (p.Pro1177His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
|
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)
|
rs201789073
|
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3531C>T (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs)
|
rs757953057
|
|
|
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs)
|
rs757953057
|
|
|
NM_001127222.2(CACNA1A):c.3533T>C (p.Leu1178Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs)
|
rs1568494824
|
|
|
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3542C>T (p.Thr1181Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.3553+16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3553+18C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3553+19A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3554-17G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs)
|
rs2144880750
|
|
|
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr)
|
rs1034876149
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
|
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=)
|
rs1568661972
|
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
|
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs)
|
rs2057373332
|
|
|
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
|
|
|
|
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly)
|
rs2057373105
|
|
|
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe)
|
rs994265107
|
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
|
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=)
|
rs529584159
|
|
|
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser)
|
rs781026181
|
|
|
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys)
|
rs781026181
|
|
|
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His)
|
rs374286965
|
|
|
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu)
|
rs374286965
|
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
|
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=)
|
rs1600242610
|
|
|
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
|
NM_001127222.2(CACNA1A):c.3692+7A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3693-19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3693-20C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3693-3C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3693-4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=)
|
rs1555751817
|
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
|
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro)
|
rs373183625
|
|
|
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=)
|
rs2144871814
|
|
|
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3742_3744del (p.Cys1248del)
|
|
|
|
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe)
|
rs2144871593
|
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
|
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile)
|
rs2144871559
|
|
|
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=)
|
rs1600238829
|
|
|
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)
|
rs1555751762
|
|
|
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=)
|
|
|
|
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala)
|
rs2144947148
|
|
|
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=)
|
rs557721660
|
|
|
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=)
|
rs372970430
|
|
|
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln)
|
rs2057331138
|
|
|
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del)
|
rs1085307864
|
|
|
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp)
|
rs2144871278
|
|
|
NM_001127222.2(CACNA1A):c.3822+15G>C
|
rs2144871142
|
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
|
NM_001127222.2(CACNA1A):c.3822+20C>A
|
rs1056191725
|
|
|
NM_001127222.2(CACNA1A):c.3822+6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.3822+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3823-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3823-1G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.3823-4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu)
|
rs995835535
|
|
|
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)
|
rs121909323
|
|
|
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs)
|
rs2144839766
|
|
|
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn)
|
rs1184262651
|
|
|
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile)
|
rs2057169185
|
|
|
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile)
|
rs2144839595
|
|
|
NM_001127222.2(CACNA1A):c.3882+15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-12T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-13T>C
|
rs2057137391
|
|
|
NM_001127222.2(CACNA1A):c.3883-14C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3883-5C>A
|
rs748652953
|
|
|
NM_001127222.2(CACNA1A):c.3883-5C>G
|
rs748652953
|
|
|
NM_001127222.2(CACNA1A):c.3883-6C>T
|
rs1600224734
|
|
|
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
|
rs779292782
|
|
|
NM_001127222.2(CACNA1A):c.3922T>G (p.Phe1308Val)
|
rs2144833436
|
|
|
NM_001127222.2(CACNA1A):c.3926G>A (p.Arg1309His)
|
rs1568485102
|
|
|
NM_001127222.2(CACNA1A):c.3940A>G (p.Ile1314Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)
|
rs1568485068
|
|
|
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.3964G>A (p.Gly1322Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.3970C>T (p.Leu1324=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3978C>T (p.Ala1326=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3984C>T (p.Ala1328=)
|
rs2144833248
|
|
|
NM_001127222.2(CACNA1A):c.3989+10C>T
|
rs1600224597
|
|
|
NM_001127222.2(CACNA1A):c.3989+13G>A
|
rs373480312
|
|
|
NM_001127222.2(CACNA1A):c.3989+13G>T
|
rs373480312
|
|
|
NM_001127222.2(CACNA1A):c.3989+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3989+1G>T
|
rs587776693
|
|
|
NM_001127222.2(CACNA1A):c.3989+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.399+15T>C
|
rs1395412975
|
|
|
NM_001127222.2(CACNA1A):c.399+1G>A
|
rs2060983144
|
|
|
NM_001127222.2(CACNA1A):c.399+4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-16A>G
|
rs2144773270
|
|
|
NM_001127222.2(CACNA1A):c.3990-18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-20A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
|
NM_001127222.2(CACNA1A):c.3990-4A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn)
|
rs2056768399
|
|
|
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=)
|
rs2144947082
|
|
|
NM_001127222.2(CACNA1A):c.400-13C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.400-14T>A
|
rs779677432
|
|
|
NM_001127222.2(CACNA1A):c.400-15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.400-16C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.400-18G>T
|
rs2060943702
|
|
|
NM_001127222.2(CACNA1A):c.400-4C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)
|
rs2056768058
|
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)
|
rs1568473233
|
|
|
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
|
|
|
|
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)
|
rs1064794858
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
|
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs)
|
rs2144772838
|
|
|
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu)
|
rs2144772824
|
|
|
NM_001127222.2(CACNA1A):c.4089+12A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+15T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+18T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+1G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+3G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
|
NM_001127222.2(CACNA1A):c.4089+6A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4090-24CT[2]
|
|
|
|
NM_001127222.2(CACNA1A):c.4090-3C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4090-4A>G
|
rs2144767685
|
|
|
NM_001127222.2(CACNA1A):c.4091C>A (p.Ala1364Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.4094T>A (p.Val1365Glu)
|
rs2144767656
|
|
|
NM_001127222.2(CACNA1A):c.4095_4096del (p.Val1365_Phe1366insTer)
|
|
|
|
NM_001127222.2(CACNA1A):c.4102T>C (p.Cys1368Arg)
|
rs886041909
|
|
|
NM_001127222.2(CACNA1A):c.4107G>A (p.Val1369=)
|
rs1568472202
|
|
|
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=)
|
rs148002271
|
|
|
NM_001127222.2(CACNA1A):c.4135A>T (p.Ile1379Phe)
|
rs1600195869
|
|
|
NM_001127222.2(CACNA1A):c.4144G>T (p.Val1382Phe)
|
rs2144767519
|
|
|
NM_001127222.2(CACNA1A):c.4154T>C (p.Leu1385Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.4166T>C (p.Ile1389Thr)
|
rs2144767456
|
|
|
NM_001127222.2(CACNA1A):c.4171G>T (p.Ala1391Ser)
|
rs1398841527
|
|
|
NM_001127222.2(CACNA1A):c.4172C>T (p.Ala1391Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4173_4174insATCTTC (p.Ala1391_Val1392insIlePhe)
|
rs1600195777
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)
|
rs2144767386
|
|
|
NM_001127222.2(CACNA1A):c.4179G>A (p.Val1393=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4193T>C (p.Phe1398Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4197G>A (p.Lys1399=)
|
rs1475353262
|
|
|
NM_001127222.2(CACNA1A):c.4199G>C (p.Gly1400Ala)
|
rs1555745111
|
|
|
NM_001127222.2(CACNA1A):c.4202A>G (p.Lys1401Arg)
|
rs2144767291
|
|
|
NM_001127222.2(CACNA1A):c.4203del (p.Lys1401fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.4210C>T (p.His1404Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)
|
rs932772664
|
|
|
NM_001127222.2(CACNA1A):c.4249C>T (p.Arg1417Ter)
|
rs2056733130
|
|
|
NM_001127222.2(CACNA1A):c.4250+10C>T
|
rs1340165763
|
|
|
NM_001127222.2(CACNA1A):c.4250+11A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4250+13T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4250+15T>C
|
rs774357662
|
|
|
NM_001127222.2(CACNA1A):c.4250+15T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4250+16C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4250+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4251-17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
|
NM_001127222.2(CACNA1A):c.4291C>T (p.Arg1431Ter)
|
rs1568470104
|
|
|
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=)
|
rs1275025158
|
|
|
NM_001127222.2(CACNA1A):c.4314T>C (p.Tyr1438=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu)
|
rs2144758379
|
|
|
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp)
|
rs2056674737
|
|
|
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
|
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly)
|
rs2144936384
|
|
|
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)
|
rs121908237
|
|
|
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=)
|
rs2144758200
|
|
|
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs)
|
rs2144758193
|
|
|
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met)
|
rs2056673232
|
|
|
NM_001127222.2(CACNA1A):c.4388+11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4388+13A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4388+16G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4388+3A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4388+6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4389-19C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4389-1G>C
|
rs1360397142
|
|
|
NM_001127222.2(CACNA1A):c.4389-28_4389-12dup
|
|
|
|
NM_001127222.2(CACNA1A):c.4389-2A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4389-5T>C
|
rs896214992
|
|
|
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile)
|
rs2144748776
|
|
|
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=)
|
rs1458275517
|
|
|
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=)
|
rs1555743957
|
|
|
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)
|
rs1568659847
|
|
|
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter)
|
rs1555743942
|
|
|
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)
|
rs750865024
|
|
|
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys)
|
rs2144748587
|
|
|
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
|
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
|
|
|
|
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
|
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=)
|
rs2144748402
|
|
|
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser)
|
rs2144748340
|
|
|
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)
|
rs886037946
|
|
|
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
|
|
|
|
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn)
|
rs2144748262
|
|
|
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val)
|
rs2144748158
|
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
|
NM_001127222.2(CACNA1A):c.4590+13A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4590+19T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4590+5C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4590+6A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-12TC[2]
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-14C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-17T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-18C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4591-5del
|
rs2056515046
|
|
|
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys)
|
rs2144735318
|
|
|
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter)
|
rs2144735303
|
|
|
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
|
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln)
|
rs775048630
|
|
|
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr)
|
rs2144735184
|
|
|
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=)
|
rs2144735110
|
|
|
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu)
|
rs377082780
|
|
|
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met)
|
rs1568465560
|
|
|
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu)
|
rs1568465560
|
|
|
NM_001127222.2(CACNA1A):c.4687G>T (p.Val1563Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=)
|
|
|
|
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)
|
rs761547761
|
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
|
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs)
|
rs1599289383
|
|
|
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)
|
rs1555743201
|
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=)
|
rs1415212677
|
|
|
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
|
|
|
|
NM_001127222.2(CACNA1A):c.4755+20C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4756-12T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4756-15G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4756-4del
|
rs752161961
|
|
|
NM_001127222.2(CACNA1A):c.4756-7C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu)
|
rs2056445437
|
|
|
NM_001127222.2(CACNA1A):c.4791G>A (p.Leu1597=)
|
rs2144726178
|
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs)
|
rs2144726142
|
|
|
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
|
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr)
|
rs2056444494
|
|
|
NM_001127222.2(CACNA1A):c.480C>T (p.His160=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=)
|
rs781413708
|
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
|
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu)
|
rs2056443467
|
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=)
|
rs2144725963
|
|
|
NM_001127222.2(CACNA1A):c.4866+11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4866+18G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4866+19C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
|
NM_001127222.2(CACNA1A):c.4867-11C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4867-13G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4867-18T>C
|
rs2144692214
|
|
|
NM_001127222.2(CACNA1A):c.4867-6T>G
|
rs2056196120
|
|
|
NM_001127222.2(CACNA1A):c.4867-7A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4867-8C>T
|
rs1057522362
|
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
|
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4881T>C (p.Asp1627=)
|
rs558064032
|
|
|
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe)
|
rs1555789107
|
|
|
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu)
|
rs2144692015
|
|
|
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=)
|
|
|
|
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
|
|
|
|
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=)
|
|
|
|
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=)
|
rs2144936227
|
|
|
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln)
|
rs1417421667
|
|
|
NM_001127222.2(CACNA1A):c.4950+12T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>C
|
rs755685706
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>G
|
rs755685706
|
|
|
NM_001127222.2(CACNA1A):c.4950+16G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+1G>T
|
rs1568457080
|
|
|
NM_001127222.2(CACNA1A):c.4950+20C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4951-10A>C
|
rs2055852187
|
|
|
NM_001127222.2(CACNA1A):c.4951-3del
|
rs1600140005
|
|
|
NM_001127222.2(CACNA1A):c.4951-5C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
|
NM_001127222.2(CACNA1A):c.4991C>G (p.Ala1664Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
|
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe)
|
rs2144649806
|
|
|
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser)
|
rs2145193160
|
|
|
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=)
|
rs755424786
|
|
|
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
|
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg)
|
rs2055850287
|
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
|
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val)
|
rs766623973
|
|
|
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser)
|
rs2144936186
|
|
|
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
|
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)
|
rs1600139781
|
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
|
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)
|
rs1568447557
|
|
|
NM_001127222.2(CACNA1A):c.5067+10C>G
|
rs549805937
|
|
|
NM_001127222.2(CACNA1A):c.5067+20G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5068-10T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5068-19T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5068-1G>A
|
rs2144648058
|
|
|
NM_001127222.2(CACNA1A):c.5068-3C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5068-6dup
|
|
|
|
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=)
|
|
|
|
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter)
|
rs2144936148
|
|
|
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro)
|
rs371273055
|
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
|
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu)
|
rs2055834394
|
|
|
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)
|
rs2144647916
|
|
|
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)
|
rs1057521708
|
|
|
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)
|
rs1600139005
|
|
|
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=)
|
rs2144647886
|
|
|
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)
|
rs2144647855
|
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
|
NM_001127222.2(CACNA1A):c.5127G>A (p.Gly1709=)
|
|
|
|
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5133+2T>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>C
|
rs1320790447
|
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
|
NM_001127222.2(CACNA1A):c.5133+9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5134-2del
|
|
|
|
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=)
|
rs776192705
|
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys)
|
rs931067957
|
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
|
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile)
|
rs2144646721
|
|
|
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)
|
rs2144646626
|
|
|
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile)
|
rs1210283621
|
|
|
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
|
NM_001127222.2(CACNA1A):c.5249+13C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+14C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+19C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+7A>C
|
rs1600138314
|
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
|
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=)
|
rs1231813346
|
|
|
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)
|
rs1555737113
|
|
|
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=)
|
|
|
|
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)
|
rs1057521920
|
|
|
NM_001127222.2(CACNA1A):c.526del (p.Val176fs)
|
rs2144936041
|
|
|
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del)
|
rs2055675454
|
|
|
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=)
|
rs2144629622
|
|
|
NM_001127222.2(CACNA1A):c.5348A>G (p.Asn1783Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=)
|
|
|
|
NM_001127222.2(CACNA1A):c.539+12G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.539+14G>A
|
rs1057523199
|
|
|
NM_001127222.2(CACNA1A):c.539+18T>A
|
|
|
|
NM_001127222.2(CACNA1A):c.539+8G>A
|
rs372925573
|
|
|
NM_001127222.2(CACNA1A):c.539+9C>A
|
rs369146237
|
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
|
NM_001127222.2(CACNA1A):c.540-13T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.540-1G>C
|
rs2144559526
|
|
|
NM_001127222.2(CACNA1A):c.540-6_540-3del
|
|
|
|
NM_001127222.2(CACNA1A):c.5400+17T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5401-10G>T
|
rs370129945
|
|
|
NM_001127222.2(CACNA1A):c.5401-13G>A
|
rs2144622540
|
|
|
NM_001127222.2(CACNA1A):c.5401-18T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs)
|
rs2144622488
|
|
|
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
|
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)
|
rs121908214
|
|
|
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)
|
rs2055612479
|
|
|
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu)
|
rs1600127242
|
|
|
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly)
|
rs267606696
|
|
|
NM_001127222.2(CACNA1A):c.5458T>C (p.Ser1820Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5472C>A (p.Gly1824=)
|
rs1804930573
|
|
|
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
|
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs)
|
rs2144622191
|
|
|
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=)
|
rs2055609637
|
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys)
|
rs1408989522
|
|
|
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp)
|
rs1348448383
|
|
|
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro)
|
rs753229469
|
|
|
NM_001127222.2(CACNA1A):c.5528+1270C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5528+12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5528+15C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5528+17A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1152C>T
|
rs1425881157
|
|
|
NM_001127222.2(CACNA1A):c.5529-1153C>T
|
rs1600124141
|
|
|
NM_001127222.2(CACNA1A):c.5529-1180G>A
|
rs2055560379
|
|
|
NM_001127222.2(CACNA1A):c.5529-1185G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1187T>C
|
rs201292159
|
|
|
NM_001127222.2(CACNA1A):c.5529-1189C>T
|
rs2055560659
|
|
|
NM_001127222.2(CACNA1A):c.5529-1191C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1204G>A
|
rs2144616611
|
|
|
NM_001127222.2(CACNA1A):c.5529-1210G>A
|
rs1001063428
|
|
|
NM_001127222.2(CACNA1A):c.5529-1211C>T
|
rs1266486228
|
|
|
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del
|
rs1431092862
|
|
|
NM_001127222.2(CACNA1A):c.5529-1214del
|
rs2144616676
|
|
|
NM_001127222.2(CACNA1A):c.5529-1215C>T
|
rs2144616690
|
|
|
NM_001127222.2(CACNA1A):c.5529-1217C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1218C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1219C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1225A>G
|
rs1432354078
|
|
|
NM_001127222.2(CACNA1A):c.5529-1230G>A
|
rs1246077018
|
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>T
|
rs1296262946
|
|
|
NM_001127222.2(CACNA1A):c.5529-1240A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
|
NM_001127222.2(CACNA1A):c.5529-1246A>G
|
rs2144616837
|
|
|
NM_001127222.2(CACNA1A):c.5529-1248A>G
|
rs2055563143
|
|
|
NM_001127222.2(CACNA1A):c.5529-1249G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1254A>T
|
rs1568440462
|
|
|
NM_001127222.2(CACNA1A):c.5529-1262G>T
|
rs1600124326
|
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>A
|
rs770936656
|
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>T
|
rs770936656
|
|
|
NM_001127222.2(CACNA1A):c.5529-1264C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1268C>A
|
rs765557914
|
|
|
NM_001127222.2(CACNA1A):c.5529-1270A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5529-1272T>G
|
rs2144616954
|
|
|
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del
|
rs1436224214
|
|
|
NM_001127222.2(CACNA1A):c.5529-1277T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr)
|
rs923359230
|
|
|
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met)
|
rs1015798325
|
|
|
NM_001127222.2(CACNA1A):c.5626-11G>T
|
rs2055373094
|
|
|
NM_001127222.2(CACNA1A):c.5626-12G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5626-5T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln)
|
rs2059326934
|
|
|
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)
|
rs1010331313
|
|
|
NM_001127222.2(CACNA1A):c.5637del (p.Met1880fs)
|
rs1600114562
|
|
|
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
|
|
|
|
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5667C>T (p.Thr1889=)
|
rs750667873
|
|
|
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
|
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val)
|
rs2055369392
|
|
|
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=)
|
rs1600114408
|
|
|
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5731+11G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5731+18G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)
|
rs751603485
|
|
|
NM_001127222.2(CACNA1A):c.5732-11C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-12C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-7A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5732-9C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=)
|
rs758357771
|
|
|
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn)
|
rs1064794441
|
|
|
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)
|
rs121908211
|
|
|
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)
|
rs2144537759
|
|
|
NM_001127222.2(CACNA1A):c.5771A>C (p.Lys1924Thr)
|
rs1181667215
|
|
|
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=)
|
rs2144537672
|
|
|
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile)
|
rs1252683687
|
|
|
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu)
|
rs775982911
|
|
|
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
|
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=)
|
rs1001682236
|
|
|
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=)
|
rs2144537393
|
|
|
NM_001127222.2(CACNA1A):c.5839+1G>C
|
rs951196653
|
|
|
NM_001127222.2(CACNA1A):c.5839+20C>T
|
rs2144537107
|
|
|
NM_001127222.2(CACNA1A):c.5839+6A>C
|
rs2144537255
|
|
|
NM_001127222.2(CACNA1A):c.5839+7G>A
|
rs1568426023
|
|
|
NM_001127222.2(CACNA1A):c.5839+9T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-12G>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[5]
|
rs772598066
|
|
|
NM_001127222.2(CACNA1A):c.5840-17C>A
|
rs556502230
|
|
|
NM_001127222.2(CACNA1A):c.5840-17C>T
|
rs556502230
|
|
|
NM_001127222.2(CACNA1A):c.5840-19A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-2A>G
|
rs2144536202
|
|
|
NM_001127222.2(CACNA1A):c.5840-2A>T
|
rs2144536202
|
|
|
NM_001127222.2(CACNA1A):c.5840-3C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-8G>A
|
rs2054921364
|
|
|
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)
|
rs121908222
|
|
|
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg)
|
rs2144536064
|
|
|
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr)
|
rs1217161285
|
|
|
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=)
|
rs2054919743
|
|
|
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr)
|
rs763611434
|
|
|
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=)
|
rs1301991287
|
|
|
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)
|
rs1269205597
|
|
|
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile)
|
rs1005884911
|
|
|
NM_001127222.2(CACNA1A):c.5904C>T (p.Ser1968=)
|
rs761152800
|
|
|
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=)
|
rs1364247722
|
|
|
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=)
|
rs990134708
|
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)
|
rs886042230
|
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
|
NM_001127222.2(CACNA1A):c.5940+14C>A
|
rs374115419
|
|
|
NM_001127222.2(CACNA1A):c.5940+15G>A
|
rs370364972
|
|
|
NM_001127222.2(CACNA1A):c.5940+15G>C
|
rs370364972
|
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
|
NM_001127222.2(CACNA1A):c.5940+1G>A
|
rs2144535495
|
|
|
NM_001127222.2(CACNA1A):c.5940+6C>T
|
rs909499550
|
|
|
NM_001127222.2(CACNA1A):c.5940+8G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-10C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.5941-5C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)
|
rs947850652
|
|
|
NM_001127222.2(CACNA1A):c.5952C>A (p.Pro1984=)
|
rs1600090248
|
|
|
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)
|
rs2054861464
|
|
|
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr)
|
rs2144526659
|
|
|
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=)
|
rs2144526589
|
|
|
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu)
|
rs1568424203
|
|
|
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)
|
rs17846933
|
|
|
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp)
|
rs16045
|
|
|
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup)
|
rs2054858852
|
|
|
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=)
|
|
|
|
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp)
|
rs2144559282
|
|
|
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn)
|
rs776574979
|
|
|
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln)
|
rs2059326410
|
|
|
NM_001127222.2(CACNA1A):c.6035A>G (p.Asp2012Gly)
|
rs2144526083
|
|
|
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6050+14del
|
rs755362952
|
|
|
NM_001127222.2(CACNA1A):c.6050+15T>C
|
rs2144525883
|
|
|
NM_001127222.2(CACNA1A):c.6050+4_6050+7del
|
rs2054856814
|
|
|
NM_001127222.2(CACNA1A):c.6051-11C>T
|
rs759586410
|
|
|
NM_001127222.2(CACNA1A):c.6051-13del
|
rs2144525353
|
|
|
NM_001127222.2(CACNA1A):c.6051-16del
|
rs2144525359
|
|
|
NM_001127222.2(CACNA1A):c.6051-18C>T
|
rs2144525399
|
|
|
NM_001127222.2(CACNA1A):c.6051-3C>A
|
rs1318280840
|
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
|
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)
|
rs2144525195
|
|
|
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
|
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys)
|
rs574805525
|
|
|
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln)
|
rs2144525077
|
|
|
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly)
|
rs2054851950
|
|
|
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu)
|
rs370345937
|
|
|
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=)
|
rs2144524908
|
|
|
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
|
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=)
|
rs1333411586
|
|
|
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val)
|
rs2054848687
|
|
|
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs)
|
rs1158454977
|
|
|
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=)
|
rs767440240
|
|
|
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=)
|
rs767440240
|
|
|
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met)
|
rs2144559196
|
|
|
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr)
|
rs1600089299
|
|
|
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=)
|
rs2054847037
|
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
|
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)
|
rs2144524434
|
|
|
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+10T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+17A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+1G>A
|
rs2144524396
|
|
|
NM_001127222.2(CACNA1A):c.6189+3G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+4C>A
|
rs2054846468
|
|
|
NM_001127222.2(CACNA1A):c.6189+6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6189+8T>C
|
rs1600089260
|
|
|
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6190-13A>G
|
rs1600088809
|
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
|
NM_001127222.2(CACNA1A):c.6190-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=)
|
rs1600088725
|
|
|
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly)
|
rs779221807
|
|
|
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)
|
rs779221807
|
|
|
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys)
|
rs543458967
|
|
|
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly)
|
rs541830363
|
|
|
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val)
|
rs2144523108
|
|
|
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala)
|
rs2144559143
|
|
|
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln)
|
rs2054835310
|
|
|
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser)
|
rs1244966977
|
|
|
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val)
|
rs1451713531
|
|
|
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)
|
rs759252101
|
|
|
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)
|
rs200093958
|
|
|
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr)
|
rs2144522850
|
|
|
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro)
|
rs2144522708
|
|
|
NM_001127222.2(CACNA1A):c.6303+12C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+17C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+18T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+3G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+5G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-13G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-15A>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-18C>T
|
rs933016243
|
|
|
NM_001127222.2(CACNA1A):c.6304-6T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6304-9C>G
|
rs928691437
|
|
|
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)
|
rs866974416
|
|
|
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=)
|
rs557017447
|
|
|
NM_001127222.2(CACNA1A):c.631+15G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.631+18C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.631+2T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
|
NM_001127222.2(CACNA1A):c.631+9G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)
|
rs373229577
|
|
|
NM_001127222.2(CACNA1A):c.632-15T>A
|
rs2144523661
|
|
|
NM_001127222.2(CACNA1A):c.632-20CT[3]
|
|
|
|
NM_001127222.2(CACNA1A):c.632-3C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.632-3dup
|
rs2059191701
|
|
|
NM_001127222.2(CACNA1A):c.632-5C>T
|
rs1310830010
|
|
|
NM_001127222.2(CACNA1A):c.632-7C>A
|
rs1555774874
|
|
|
NM_001127222.2(CACNA1A):c.632-7C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
|
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=)
|
rs2054776841
|
|
|
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser)
|
rs758498629
|
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
|
NM_001127222.2(CACNA1A):c.6339+10G>T
|
rs376238265
|
|
|
NM_001127222.2(CACNA1A):c.6339+13C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6339+16G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6339+4T>C
|
rs2054775532
|
|
|
NM_001127222.2(CACNA1A):c.6339+4T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6339+5G>C
|
rs2144513372
|
|
|
NM_001127222.2(CACNA1A):c.6340-17C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6340-5C>G
|
rs991192417
|
|
|
NM_001127222.2(CACNA1A):c.6340-7C>T
|
rs765609971
|
|
|
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser)
|
rs2054722290
|
|
|
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup)
|
rs2144506658
|
|
|
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=)
|
rs866806995
|
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
|
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)
|
rs1317004203
|
|
|
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=)
|
rs1208181261
|
|
|
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys)
|
rs1255940553
|
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
|
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)
|
rs2144506487
|
|
|
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg)
|
rs1369133711
|
|
|
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs)
|
rs2144506286
|
|
|
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=)
|
rs946116668
|
|
|
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)
|
rs755880731
|
|
|
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6422A>G (p.Glu2141Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
|
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
|
|
|
|
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile)
|
rs1555774867
|
|
|
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)
|
rs756780624
|
|
|
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)
|
rs1469809752
|
|
|
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)
|
rs754317278
|
|
|
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
|
|
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6473G>T (p.Arg2158Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=)
|
rs368016666
|
|
|
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
|
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
|
|
|
|
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly)
|
rs375354077
|
|
|
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn)
|
rs370289732
|
|
|
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr)
|
rs370289732
|
|
|
NM_001127222.2(CACNA1A):c.6516T>C (p.Asp2172=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+11C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+13G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6526+16G>A
|
rs2144505254
|
|
|
NM_001127222.2(CACNA1A):c.6526+7A>C
|
rs972428713
|
|
|
NM_001127222.2(CACNA1A):c.6527-10C>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6527-11A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.6527-4C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.6527-7G>A
|
rs1555730686
|
|
|
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)
|
rs2054695798
|
|
|
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=)
|
|
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
|
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=)
|
rs2144502990
|
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
|
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
|
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe)
|
rs2059190992
|
|
|
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)
|
rs371116746
|
|
|
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)
|
rs2144502827
|
|
|
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=)
|
rs770657980
|
|
|
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp)
|
rs1463901630
|
|
|
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu)
|
rs373192655
|
|
|
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=)
|
rs2144502704
|
|
|
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)
|
rs763941704
|
|
|
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
|
|
|
|
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His)
|
rs2054692765
|
|
|
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala)
|
rs1163864338
|
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
|
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala)
|
rs1983011989
|
|
|
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn)
|
rs1276672646
|
|
|
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)
|
rs780467849
|
|
|
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)
|
rs780467849
|
|
|
NM_001127222.2(CACNA1A):c.6615G>A (p.Arg2205=)
|
rs2054690020
|
|
|
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)
|
rs1247003992
|
|
|
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup)
|
rs1305974321
|
|
|
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6627dup (p.His2210fs)
|
rs1568419053
|
|
|
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)
|
rs1006425986
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6633C>G (p.His2211Gln)
|
rs775606907
|
|
|
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=)
|
rs1379281681
|
|
|
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn)
|
rs905447472
|
|
|
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)
|
rs1600079735
|
|
|
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
|
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr)
|
rs2054687055
|
|
|
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu)
|
rs2054686938
|
|
|
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081
|
|
|
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
|
|
|
|
NM_001127222.2(CACNA1A):c.6655C>A (p.His2219Asn)
|
rs1307304917
|
|
|
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)
|
rs1085307607
|
|
|
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)
|
rs749638821
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
|
|
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
|
|
|
|
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)
|
rs16052
|
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=)
|
rs1196254519
|
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
|
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=)
|
|
|
|
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu)
|
rs1181604906
|
|
|
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
|
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)
|
rs936533797
|
|
|
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=)
|
rs2144501238
|
|
|
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6701_6711dup (p.Ala2238fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr)
|
rs903913051
|
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
|
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys)
|
rs752808137
|
|
|
NM_001127222.2(CACNA1A):c.6710G>A (p.Arg2237Gln)
|
rs765309213
|
|
|
NM_001127222.2(CACNA1A):c.6710G>T (p.Arg2237Leu)
|
rs765309213
|
|
|
NM_001127222.2(CACNA1A):c.6710_6719del (p.Arg2237fs)
|
rs1042488847
|
|
|
NM_001127222.2(CACNA1A):c.6712_6735dup (p.Trp2245_Ser2246insAlaArgAlaArgAspGlnArgTrp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6714_6719dup (p.2238AR[3])
|
rs1042488847
|
|
|
NM_001127222.2(CACNA1A):c.6721C>G (p.Arg2241Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6721C>T (p.Arg2241Trp)
|
rs760428308
|
|
|
NM_001127222.2(CACNA1A):c.6722G>C (p.Arg2241Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.6723G>C (p.Arg2241=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6724G>A (p.Asp2242Asn)
|
rs2054681171
|
|
|
NM_001127222.2(CACNA1A):c.6729G>C (p.Gln2243His)
|
rs774078430
|
|
|
NM_001127222.2(CACNA1A):c.6729G>T (p.Gln2243His)
|
rs774078430
|
|
|
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=)
|
rs771429351
|
|
|
NM_001127222.2(CACNA1A):c.6730C>T (p.Arg2244Cys)
|
rs1021438528
|
|
|
NM_001127222.2(CACNA1A):c.6732C>G (p.Arg2244=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6735G>T (p.Trp2245Cys)
|
rs2054680655
|
|
|
NM_001127222.2(CACNA1A):c.6739C>T (p.Arg2247Cys)
|
rs1265035474
|
|
|
NM_001127222.2(CACNA1A):c.6752A>G (p.Glu2251Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6754G>T (p.Gly2252Cys)
|
rs1433873178
|
|
|
NM_001127222.2(CACNA1A):c.6755G>C (p.Gly2252Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.6757C>G (p.Arg2253Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6758G>T (p.Arg2253Leu)
|
rs752950486
|
|
|
NM_001127222.2(CACNA1A):c.6766A>G (p.Met2256Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.676_784+1178del
|
|
|
|
NM_001127222.2(CACNA1A):c.6771G>A (p.Ala2257=)
|
rs753884600
|
|
|
NM_001127222.2(CACNA1A):c.6771G>T (p.Ala2257=)
|
rs753884600
|
|
|
NM_001127222.2(CACNA1A):c.6773A>G (p.His2258Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6775C>A (p.Arg2259=)
|
rs750267834
|
|
|
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp)
|
rs750267834
|
|
|
NM_001127222.2(CACNA1A):c.6776G>C (p.Arg2259Pro)
|
rs201582095
|
|
|
NM_001127222.2(CACNA1A):c.6780+13_6780+14delinsTT
|
rs2144500224
|
|
|
NM_001127222.2(CACNA1A):c.6780+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6780+3G>C
|
rs1307510001
|
|
|
NM_001127222.2(CACNA1A):c.6780+8C>A
|
rs774169958
|
|
|
NM_001127222.2(CACNA1A):c.6784_6788del (p.Ser2262fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn)
|
rs2054633316
|
|
|
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=)
|
rs2144523263
|
|
|
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.685A>G (p.Ile229Val)
|
rs2059190527
|
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
|
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)
|
rs1555774859
|
|
|
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)
|
rs1599292506
|
|
|
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)
|
rs16054
|
|
|
NM_001127222.2(CACNA1A):c.698T>C (p.Leu233Pro)
|
rs2059190252
|
|
|
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup)
|
rs1568574602
|
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
|
NM_001127222.2(CACNA1A):c.75G>C (p.Val25=)
|
|
|
|
NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala)
|
rs2059189603
|
|
|
NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe)
|
rs2059189489
|
|
|
NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala)
|
rs2059189452
|
|
|
NM_001127222.2(CACNA1A):c.784+16A>T
|
rs1445259892
|
|
|
NM_001127222.2(CACNA1A):c.784+4G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
|
|
|
|
NM_001127222.2(CACNA1A):c.785-17C>G
|
|
|
|
NM_001127222.2(CACNA1A):c.785-3T>C
|
rs2145245902
|
|
|
NM_001127222.2(CACNA1A):c.785-6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val)
|
rs2059070159
|
|
|
NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=)
|
|
|
|
NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly)
|
rs1326606155
|
|
|
NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu)
|
rs763911399
|
|
|
NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=)
|
|
|
|
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)
|
rs771682941
|
|
|
NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=)
|
|
|
|
NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=)
|
rs568635317
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
|
NM_001127222.2(CACNA1A):c.835C>A (p.Arg279Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
|
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)
|
rs2145245595
|
|
|
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=)
|
rs2145245583
|
|
|
NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=)
|
rs777059446
|
|
|
NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs)
|
rs2145245392
|
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
|
|
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
|
|
NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
|
|
|
|
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)
|
rs1599276954
|
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
|
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
|
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=)
|
|
|
|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
|
|
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=)
|
|
|
|
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs)
|
rs1599276830
|
|
|
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)
|
|
|
|
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=)
|
rs1210220449
|
|
|
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.978+12T>C
|
rs755859875
|
|
|
NM_001127222.2(CACNA1A):c.978+12T>G
|
|
|
|
NM_001127222.2(CACNA1A):c.978+19G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.979-13T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.979-19C>G
|
rs2145140905
|
|
|
NM_001127222.2(CACNA1A):c.979-5T>A
|
rs2145140730
|
|
|
NM_001127222.2(CACNA1A):c.979-6C>G
|
rs773529741
|
|
|
NM_001127222.2(CACNA1A):c.979-8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.979-9A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser)
|
rs749474997
|
|
|
NM_001127222.2(CACNA1A):c.981C>G (p.Ser327Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.985G>A (p.Asp329Asn)
|
rs1353041373
|
|
|
NM_001127222.2(CACNA1A):c.985G>C (p.Asp329His)
|
rs1353041373
|
|
|
NM_001127222.2(CACNA1A):c.990C>G (p.Ala330=)
|
rs1555767932
|
|
|
NM_001127222.2(CACNA1A):c.998A>G (p.Asn333Ser)
|
|
|
|
NM_001164710.2(AMT):c.340-552del
|
rs2107933839
|
|
|
NM_001168364.2(KRTCAP3):c.*5+455_*5+465del
|
|
|
|
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)
|
rs2151453936
|
|
|
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=)
|
rs1389252296
|
|
|
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)
|
rs1131691498
|
|
|
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)
|
rs376153659
|
|
|
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=)
|
rs376153659
|
|
|
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)
|
rs899144976
|
|
|
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)
|
rs899144976
|
|
|
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)
|
rs1567702985
|
|
|
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)
|
|
|
|
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)
|
rs761084443
|
|
|
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)
|
|
|
|
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)
|
rs387907120
|
|
|
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=)
|
rs374451559
|
|
|
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)
|
rs150487794
|
|
|
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)
|
rs749101905
|
|
|
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)
|
rs749101905
|
|
|
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)
|
|
|
|
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=)
|
rs1156341271
|
|
|
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)
|
rs775808630
|
|
|
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs)
|
rs769183050
|
|
|
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)
|
rs750959933
|
|
|
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)
|
|
|
|
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)
|
rs2151454690
|
|
|
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)
|
rs2151454775
|
|
|
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)
|
rs144907664
|
|
|
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=)
|
rs2151454814
|
|
|
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)
|
|
|
|
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)
|
rs1904713918
|
|
|
NM_001243279.3(ACSF3):c.1126+10C>T
|
rs2151454938
|
|
|
NM_001243279.3(ACSF3):c.1126+18A>C
|
|
|
|
NM_001243279.3(ACSF3):c.1126+1G>A
|
rs916461556
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1126+5G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1127-12C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1127-14C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1127-18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1127-2A>T
|
|
|
|
NM_001243279.3(ACSF3):c.1127-4G>A
|
rs1327850217
|
|
|
NM_001243279.3(ACSF3):c.1127-7C>A
|
rs761564953
|
|
|
NM_001243279.3(ACSF3):c.1127-9C>T
|
rs536593488
|
|
|
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=)
|
rs138395741
|
|
|
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)
|
|
|
|
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)
|
|
|
|
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=)
|
|
|
|
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=)
|
rs2151478873
|
|
|
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=)
|
rs2151405382
|
|
|
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)
|
rs2151478908
|
|
|
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=)
|
rs1378994162
|
|
|
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=)
|
rs371890371
|
|
|
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)
|
|
|
|
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=)
|
|
|
|
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=)
|
rs1906478952
|
|
|
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=)
|
|
|
|
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=)
|
rs1047268029
|
|
|
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=)
|
rs781247397
|
|
|
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=)
|
rs2151479090
|
|
|
NM_001243279.3(ACSF3):c.1231_1239+9del
|
|
|
|
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=)
|
rs2151479113
|
|
|
NM_001243279.3(ACSF3):c.1239+10T>C
|
rs2151479176
|
|
|
NM_001243279.3(ACSF3):c.1239+11C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+11C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1239+13G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+14C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1239+19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1239+20G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1239+7C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1239+8A>T
|
rs746314037
|
|
|
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=)
|
rs901883302
|
|
|
NM_001243279.3(ACSF3):c.1240-11A>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-15C>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-17T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1240-19T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-1G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1240-20A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-6C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1240-7T>G
|
|
|
|
NM_001243279.3(ACSF3):c.1240-8C>T
|
rs1598040505
|
|
|
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)
|
|
|
|
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=)
|
rs3743984
|
|
|
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=)
|
rs760524726
|
|
|
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=)
|
rs2151520849
|
|
|
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=)
|
|
|
|
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)
|
rs775794698
|
|
|
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala)
|
|
|
|
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=)
|
rs1237151757
|
|
|
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)
|
|
|
|
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)
|
rs764608253
|
|
|
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=)
|
rs2151521008
|
|
|
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro)
|
rs137995833
|
|
|
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=)
|
rs375414491
|
|
|
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter)
|
rs1909702747
|
|
|
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=)
|
rs998246075
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
|
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=)
|
rs1444580425
|
|
|
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=)
|
rs2151521187
|
|
|
NM_001243279.3(ACSF3):c.134del (p.Pro45fs)
|
rs2151405469
|
|
|
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=)
|
|
|
|
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=)
|
rs775551806
|
|
|
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=)
|
rs775551806
|
|
|
NM_001243279.3(ACSF3):c.1366+11G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1366+11_1366+16del
|
|
|
|
NM_001243279.3(ACSF3):c.1366+15C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1366+16A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1366+17T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1366+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1366+9C>G
|
rs2151521275
|
|
|
NM_001243279.3(ACSF3):c.1366+9C>T
|
rs2151521275
|
|
|
NM_001243279.3(ACSF3):c.1367-11C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-13C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-15G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1367-2_1367-1del
|
|
|
|
NM_001243279.3(ACSF3):c.1367-36_1367-7del
|
rs2151562216
|
|
|
NM_001243279.3(ACSF3):c.1367-4T>A
|
rs2151562350
|
|
|
NM_001243279.3(ACSF3):c.1367-8T>A
|
|
|
|
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=)
|
rs2151562365
|
|
|
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=)
|
rs2151562365
|
|
|
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)
|
rs751342087
|
|
|
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=)
|
rs554032555
|
|
|
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
|
|
|
|
NM_001243279.3(ACSF3):c.138G>A (p.Val46=)
|
rs1597887201
|
|
|
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=)
|
rs200661983
|
|
|
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=)
|
rs1451312853
|
|
|
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
|
rs1912700120
|
|
|
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln)
|
rs144681140
|
|
|
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=)
|
rs1912703262
|
|
|
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs)
|
rs1912702795
|
|
|
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=)
|
rs1912704218
|
|
|
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=)
|
rs1912704218
|
|
|
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)
|
|
|
|
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=)
|
|
|
|
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=)
|
|
|
|
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=)
|
|
|
|
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=)
|
rs2151405540
|
|
|
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=)
|
rs2151562576
|
|
|
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)
|
|
|
|
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=)
|
rs2151562625
|
|
|
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=)
|
|
|
|
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)
|
rs1064793662
|
|
|
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=)
|
rs2151562665
|
|
|
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=)
|
rs377487769
|
|
|
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=)
|
|
|
|
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=)
|
|
|
|
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu)
|
rs377596983
|
|
|
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=)
|
rs115776284
|
|
|
NM_001243279.3(ACSF3):c.1476C>T (p.His492=)
|
rs1348371629
|
|
|
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=)
|
rs2151405575
|
|
|
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=)
|
|
|
|
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=)
|
rs2151562831
|
|
|
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=)
|
rs2151562831
|
|
|
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=)
|
|
|
|
NM_001243279.3(ACSF3):c.1501+12G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1501+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1501+20C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1501+4C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1502-11_1502-9del
|
rs147884845
|
|
|
NM_001243279.3(ACSF3):c.1502-13C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1502-1G>C
|
|
|
|
NM_001243279.3(ACSF3):c.1502-20A>G
|
|
|
|
NM_001243279.3(ACSF3):c.1502-6C>A
|
|
|
|
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=)
|
|
|
|
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)
|
|
|
|
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=)
|
|
|
|
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=)
|
|
|
|
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=)
|
rs1012271385
|
|
|
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu)
|
rs1450563045
|
|
|
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=)
|
rs746953848
|
|
|
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=)
|
|
|
|
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=)
|
|
|
|
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met)
|
|
|
|
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)
|
rs745684193
|
|
|
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=)
|
|
|
|
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)
|
|
|
|
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=)
|
|
|
|
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter)
|
rs767958353
|
|
|
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=)
|
rs753356664
|
|
|
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=)
|
rs778486871
|
|
|
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=)
|
rs778486871
|
|
|
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=)
|
rs1912883419
|
|
|
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=)
|
|
|
|
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs)
|
rs1350227206
|
|
|
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter)
|
rs779820462
|
|
|
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser)
|
rs779820462
|
|
|
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs)
|
rs1912887899
|
|
|
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=)
|
|
|
|
NM_001243279.3(ACSF3):c.1613+16del
|
|
|
|
NM_001243279.3(ACSF3):c.1613+17C>T
|
|
|
|
NM_001243279.3(ACSF3):c.1613+18G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1613+20G>T
|
|
|
|
NM_001243279.3(ACSF3):c.1613+2T>C
|
rs2151564932
|
|
|
NM_001243279.3(ACSF3):c.1613+7C>T
|
rs1179755069
|
|
|
NM_001243279.3(ACSF3):c.1613+9G>T
|
rs974191447
|
|
|
NM_001243279.3(ACSF3):c.1614-16G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1614-19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.1614-7T>C
|
|
|
|
NM_001243279.3(ACSF3):c.1614-8C>G
|
rs375091095
|
|
|
NM_001243279.3(ACSF3):c.1614-8C>T
|
rs375091095
|
|
|
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)
|
|
|
|
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu)
|
rs570670205
|
|
|
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=)
|
rs146779456
|
|
|
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs)
|
rs1914445437
|
|
|
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=)
|
|
|
|
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=)
|
|
|
|
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=)
|
|
|
|
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter)
|
rs139520739
|
|
|
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=)
|
|
|
|
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=)
|
rs1597281839
|
|
|
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=)
|
|
|
|
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=)
|
|
|
|
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=)
|
rs1245847525
|
|
|
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro)
|
rs140328142
|
|
|
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=)
|
rs767036317
|
|
|
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=)
|
rs2151586215
|
|
|
NM_001243279.3(ACSF3):c.16del (p.Val6fs)
|
rs1338859307
|
|
|
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)
|
|
|
|
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)
|
|
|
|
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=)
|
|
|
|
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=)
|
rs753754672
|
|
|
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly)
|
rs1448355025
|
|
|
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.1716C>T (p.His572=)
|
|
|
|
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=)
|
rs1914461577
|
|
|
NM_001243279.3(ACSF3):c.1720del (p.His574fs)
|
|
|
|
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)
|
|
|
|
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=)
|
rs1914464370
|
|
|
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=)
|
rs2151586302
|
|
|
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=)
|
|
|
|
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs)
|
rs1776373606
|
|
|
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)
|
|
|
|
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln)
|
|
|
|
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met)
|
|
|
|
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=)
|
rs1405537973
|
|
|
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=)
|
rs1975219207
|
|
|
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs)
|
|
|
|
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=)
|
|
|
|
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=)
|
rs2151406106
|
|
|
NM_001243279.3(ACSF3):c.238del (p.Gln80fs)
|
|
|
|
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)
|
|
|
|
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys)
|
rs373476048
|
|
|
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)
|
|
|
|
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)
|
|
|
|
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=)
|
|
|
|
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)
|
|
|
|
NM_001243279.3(ACSF3):c.261del (p.Cys88fs)
|
rs775569136
|
|
|
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)
|
|
|
|
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp)
|
rs530503915
|
|
|
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=)
|
rs2151406487
|
|
|
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter)
|
rs1975233179
|
|
|
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser)
|
rs1299639090
|
|
|
NM_001243279.3(ACSF3):c.294C>T (p.Val98=)
|
|
|
|
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs)
|
|
|
|
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=)
|
rs59213357
|
|
|
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)
|
|
|
|
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser)
|
rs2151406892
|
|
|
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)
|
|
|
|
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met)
|
|
|
|
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu)
|
rs781163359
|
|
|
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=)
|
|
|
|
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=)
|
rs1267933456
|
|
|
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)
|
|
|
|
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=)
|
|
|
|
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=)
|
rs6500527
|
|
|
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=)
|
rs1446396475
|
|
|
NM_001243279.3(ACSF3):c.363G>A (p.Val121=)
|
|
|
|
NM_001243279.3(ACSF3):c.369C>G (p.Val123=)
|
rs6500529
|
|
|
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=)
|
|
|
|
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg)
|
rs1292276846
|
|
|
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=)
|
rs368192538
|
|
|
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=)
|
|
|
|
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=)
|
rs370968781
|
|
|
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His)
|
rs370968781
|
|
|
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs)
|
|
|
|
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)
|
rs1313088429
|
|
|
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met)
|
|
|
|
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)
|
|
|
|
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.435G>A (p.Val145=)
|
rs759185741
|
|
|
NM_001243279.3(ACSF3):c.438C>T (p.Val146=)
|
rs1381436509
|
|
|
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=)
|
rs1373108224
|
|
|
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)
|
|
|
|
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=)
|
rs147899198
|
|
|
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=)
|
|
|
|
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=)
|
|
|
|
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu)
|
|
|
|
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=)
|
|
|
|
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=)
|
rs757199694
|
|
|
NM_001243279.3(ACSF3):c.477G>C (p.Val159=)
|
|
|
|
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=)
|
rs758530787
|
|
|
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=)
|
rs2151408219
|
|
|
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=)
|
|
|
|
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=)
|
rs748625786
|
|
|
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr)
|
|
|
|
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)
|
|
|
|
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=)
|
rs1403364770
|
|
|
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=)
|
rs7201122
|
|
|
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=)
|
rs7201122
|
|
|
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln)
|
|
|
|
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=)
|
rs866824182
|
|
|
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys)
|
rs1567685421
|
|
|
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=)
|
|
|
|
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=)
|
rs2151405049
|
|
|
NM_001243279.3(ACSF3):c.555C>G (p.Val185=)
|
rs1260446910
|
|
|
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu)
|
rs376098216
|
|
|
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=)
|
|
|
|
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=)
|
rs1307415970
|
|
|
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=)
|
rs1307415970
|
|
|
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=)
|
rs528237336
|
|
|
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)
|
|
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
|
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=)
|
rs2151409119
|
|
|
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp)
|
|
|
|
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=)
|
rs1259550164
|
|
|
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=)
|
|
|
|
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=)
|
|
|
|
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=)
|
rs1555560476
|
|
|
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=)
|
rs1555560476
|
|
|
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)
|
|
|
|
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=)
|
rs753012038
|
|
|
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=)
|
rs753012038
|
|
|
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys)
|
|
|
|
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)
|
|
|
|
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs)
|
rs1567685802
|
|
|
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=)
|
rs772996642
|
|
|
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)
|
|
|
|
NM_001243279.3(ACSF3):c.666+10G>A
|
rs752914229
|
|
|
NM_001243279.3(ACSF3):c.666+10G>C
|
|
|
|
NM_001243279.3(ACSF3):c.666+10G>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+12C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+16C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+17G>A
|
|
|
|
NM_001243279.3(ACSF3):c.666+19C>T
|
|
|
|
NM_001243279.3(ACSF3):c.666+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-10T>C
|
|
|
|
NM_001243279.3(ACSF3):c.667-11G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-14C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-14C>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-19G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.667-2A>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-4G>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-6C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>A
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>G
|
|
|
|
NM_001243279.3(ACSF3):c.667-9C>T
|
rs369865917
|
|
|
NM_001243279.3(ACSF3):c.669G>A (p.Val223=)
|
rs772127402
|
|
|
NM_001243279.3(ACSF3):c.669G>T (p.Val223=)
|
rs772127402
|
|
|
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=)
|
rs751461445
|
|
|
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.675del (p.Leu226fs)
|
rs1597898076
|
|
|
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp)
|
rs1597898108
|
|
|
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)
|
rs1432097143
|
|
|
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr)
|
rs765454020
|
|
|
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)
|
|
|
|
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=)
|
|
|
|
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met)
|
|
|
|
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)
|
|
|
|
NM_001243279.3(ACSF3):c.723G>A (p.Val241=)
|
rs1597898369
|
|
|
NM_001243279.3(ACSF3):c.723G>T (p.Val241=)
|
|
|
|
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=)
|
rs768799062
|
|
|
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=)
|
rs768799062
|
|
|
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=)
|
rs752720474
|
|
|
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=)
|
|
|
|
NM_001243279.3(ACSF3):c.735C>T (p.His245=)
|
rs1397465454
|
|
|
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg)
|
|
|
|
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=)
|
rs1419853894
|
|
|
NM_001243279.3(ACSF3):c.750G>T (p.Val250=)
|
rs1045898328
|
|
|
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile)
|
|
|
|
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr)
|
|
|
|
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)
|
rs1975494455
|
|
|
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=)
|
rs765643653
|
|
|
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=)
|
rs931176162
|
|
|
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=)
|
rs2151416739
|
|
|
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=)
|
|
|
|
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=)
|
rs750139721
|
|
|
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)
|
|
|
|
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala)
|
rs1277612080
|
|
|
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=)
|
rs2151416786
|
|
|
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)
|
|
|
|
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=)
|
rs2151416808
|
|
|
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val)
|
|
|
|
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=)
|
|
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
|
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=)
|
|
|
|
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)
|
|
|
|
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)
|
rs2151416957
|
|
|
NM_001243279.3(ACSF3):c.822+10G>A
|
|
|
|
NM_001243279.3(ACSF3):c.822+10G>C
|
rs771232327
|
|
|
NM_001243279.3(ACSF3):c.822+12_822+61del
|
|
|
|
NM_001243279.3(ACSF3):c.822+12dup
|
|
|
|
NM_001243279.3(ACSF3):c.822+15G>A
|
|
|
|
NM_001243279.3(ACSF3):c.822+16G>C
|
|
|
|
NM_001243279.3(ACSF3):c.822+1G>A
|
rs2151416991
|
|
|
NM_001243279.3(ACSF3):c.822+2T>C
|
rs1975502704
|
|
|
NM_001243279.3(ACSF3):c.823-18G>T
|
|
|
|
NM_001243279.3(ACSF3):c.823-19T>C
|
|
|
|
NM_001243279.3(ACSF3):c.823-1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.823-4G>A
|
rs558325262
|
|
|
NM_001243279.3(ACSF3):c.823-7T>A
|
|
|
|
NM_001243279.3(ACSF3):c.823-8C>G
|
rs776024101
|
|
|
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter)
|
rs570233664
|
|
|
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=)
|
|
|
|
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)
|
|
|
|
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=)
|
|
|
|
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=)
|
rs1597942772
|
|
|
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)
|
|
|
|
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met)
|
|
|
|
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=)
|
|
|
|
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp)
|
|
|
|
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=)
|
rs1378884062
|
|
|
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=)
|
|
|
|
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=)
|
|
|
|
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp)
|
|
|
|
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=)
|
|
|
|
NM_001243279.3(ACSF3):c.867C>A (p.Val289=)
|
|
|
|
NM_001243279.3(ACSF3):c.867C>T (p.Val289=)
|
rs1246005897
|
|
|
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=)
|
rs2151444679
|
|
|
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)
|
|
|
|
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=)
|
|
|
|
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)
|
|
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
|
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=)
|
rs2151444809
|
|
|
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)
|
|
|
|
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=)
|
rs1976764124
|
|
|
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=)
|
|
|
|
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu)
|
|
|
|
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe)
|
rs1975195262
|
|
|
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro)
|
|
|
|
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=)
|
rs770510501
|
|
|
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)
|
|
|
|
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser)
|
|
|
|
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys)
|
|
|
|
NM_001243279.3(ACSF3):c.953del (p.Arg318fs)
|
|
|
|
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=)
|
rs1165098721
|
|
|
NM_001243279.3(ACSF3):c.973del (p.Ile325fs)
|
|
|
|
NM_001243279.3(ACSF3):c.977+18A>G
|
|
|
|
NM_001243279.3(ACSF3):c.977+1G>A
|
|
|
|
NM_001243279.3(ACSF3):c.977+1G>C
|
rs141056046
|
|
|
NM_001243279.3(ACSF3):c.977+1G>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-19C>G
|
|
|
|
NM_001243279.3(ACSF3):c.978-19C>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-20C>T
|
|
|
|
NM_001243279.3(ACSF3):c.978-2A>G
|
|
|
|
NM_001243279.3(ACSF3):c.978-6G>T
|
rs377217672
|
|
|
NM_001243279.3(ACSF3):c.978-8C>T
|
|
|
|
NM_001243279.3(ACSF3):c.987C>A (p.Val329=)
|
rs1426240105
|
|
|
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)
|
rs2151453873
|
|
|
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)
|
|
|
|
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)
|
|
|
|
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=)
|
rs2151453925
|
|
|
NM_001258392.3(CLPB):c.1008T>G (p.Asn336Lys)
|
rs2135512797
|
|
|
NM_001258392.3(CLPB):c.1017C>G (p.Tyr339Ter)
|
|
|
|
NM_001258392.3(CLPB):c.1024G>A (p.Glu342Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1027C>T (p.His343Tyr)
|
|
|
|
NM_001258392.3(CLPB):c.1033C>T (p.Leu345=)
|
rs1949786030
|
|
|
NM_001258392.3(CLPB):c.103C>A (p.Arg35=)
|
|
|
|
NM_001258392.3(CLPB):c.1047C>T (p.Phe349=)
|
|
|
|
NM_001258392.3(CLPB):c.1053A>G (p.Gly351=)
|
rs1949785389
|
|
|
NM_001258392.3(CLPB):c.1066+1G>A
|
rs1555087619
|
|
|
NM_001258392.3(CLPB):c.1066+9del
|
rs1204558796
|
|
|
NM_001258392.3(CLPB):c.1067-11T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-20T>A
|
|
|
|
NM_001258392.3(CLPB):c.1067-20T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-3T>C
|
|
|
|
NM_001258392.3(CLPB):c.1067-9T>C
|
rs372848873
|
|
|
NM_001258392.3(CLPB):c.1094C>A (p.Ala365Asp)
|
|
|
|
NM_001258392.3(CLPB):c.109G>C (p.Val37Leu)
|
rs773901608
|
|
|
NM_001258392.3(CLPB):c.1102A>G (p.Met368Val)
|
|
|
|
NM_001258392.3(CLPB):c.1122+11G>A
|
|
|
|
NM_001258392.3(CLPB):c.1122+16T>G
|
|
|
|
NM_001258392.3(CLPB):c.1123-13T>C
|
|
|
|
NM_001258392.3(CLPB):c.1123-18T>C
|
|
|
|
NM_001258392.3(CLPB):c.1123-3C>A
|
|
|
|
NM_001258392.3(CLPB):c.1132A>T (p.Arg378Trp)
|
|
|
|
NM_001258392.3(CLPB):c.1134G>A (p.Arg378=)
|
rs890501416
|
|
|
NM_001258392.3(CLPB):c.1137G>A (p.Leu379=)
|
rs267603176
|
|
|
NM_001258392.3(CLPB):c.1147G>A (p.Glu383Lys)
|
rs1949671839
|
|
|
NM_001258392.3(CLPB):c.114T>C (p.Thr38=)
|
rs1590948323
|
|
|
NM_001258392.3(CLPB):c.1164C>G (p.His388Gln)
|
rs202009794
|
|
|
NM_001258392.3(CLPB):c.1167+10G>A
|
|
|
|
NM_001258392.3(CLPB):c.1167+3G>T
|
|
|
|
NM_001258392.3(CLPB):c.1167+5G>T
|
rs1565424666
|
|
|
NM_001258392.3(CLPB):c.1167+9T>C
|
|
|
|
NM_001258392.3(CLPB):c.1168-3C>G
|
|
|
|
NM_001258392.3(CLPB):c.1168-9T>C
|
rs979851122
|
|
|
NM_001258392.3(CLPB):c.1181T>C (p.Ile394Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1184G>A (p.Gly395Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1201G>A (p.Val401Ile)
|
|
|
|
NM_001258392.3(CLPB):c.1202T>C (p.Val401Ala)
|
rs138691107
|
|
|
NM_001258392.3(CLPB):c.1205G>C (p.Gly402Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1214A>T (p.Glu405Val)
|
rs1590764241
|
|
|
NM_001258392.3(CLPB):c.1230C>T (p.Thr410=)
|
|
|
|
NM_001258392.3(CLPB):c.1245G>A (p.Gln415=)
|
|
|
|
NM_001258392.3(CLPB):c.1252A>C (p.Asn418His)
|
|
|
|
NM_001258392.3(CLPB):c.1275A>G (p.Glu425=)
|
|
|
|
NM_001258392.3(CLPB):c.1283A>G (p.Lys428Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1291C>T (p.Pro431Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1297G>A (p.Val433Met)
|
|
|
|
NM_001258392.3(CLPB):c.1299G>C (p.Val433=)
|
|
|
|
NM_001258392.3(CLPB):c.1300C>T (p.Leu434Phe)
|
rs758030499
|
|
|
NM_001258392.3(CLPB):c.131A>C (p.Glu44Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1320G>A (p.Leu440=)
|
rs146721061
|
|
|
NM_001258392.3(CLPB):c.1329+1G>A
|
rs2135500473
|
|
|
NM_001258392.3(CLPB):c.1341_1344del (p.Asp448fs)
|
|
|
|
NM_001258392.3(CLPB):c.1371G>A (p.Lys457=)
|
|
|
|
NM_001258392.3(CLPB):c.1409A>G (p.Asp470Gly)
|
rs1365431764
|
|
|
NM_001258392.3(CLPB):c.1413G>C (p.Glu471Asp)
|
rs780612425
|
|
|
NM_001258392.3(CLPB):c.1416C>T (p.Ile472=)
|
rs1949536469
|
|
|
NM_001258392.3(CLPB):c.1417G>A (p.Ala473Thr)
|
|
|
|
NM_001258392.3(CLPB):c.142C>G (p.Leu48Val)
|
rs1856650498
|
|
|
NM_001258392.3(CLPB):c.1440G>A (p.Arg480=)
|
|
|
|
NM_001258392.3(CLPB):c.1453G>A (p.Glu485Lys)
|
rs143522576
|
|
|
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys)
|
rs1555085159
|
|
|
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
|
rs779812366
|
|
|
NM_001258392.3(CLPB):c.1484T>C (p.Leu495Pro)
|
|
|
|
NM_001258392.3(CLPB):c.1485G>A (p.Leu495=)
|
rs1949534031
|
|
|
NM_001258392.3(CLPB):c.1486+7C>T
|
|
|
|
NM_001258392.3(CLPB):c.1486+8G>A
|
|
|
|
NM_001258392.3(CLPB):c.1487-17_1487-16del
|
|
|
|
NM_001258392.3(CLPB):c.1489G>A (p.Asp497Asn)
|
|
|
|
NM_001258392.3(CLPB):c.1489G>C (p.Asp497His)
|
rs918777173
|
|
|
NM_001258392.3(CLPB):c.148G>T (p.Val50Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1492G>A (p.Val498Ile)
|
rs2135486440
|
|
|
NM_001258392.3(CLPB):c.1495C>A (p.Gln499Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1497G>C (p.Gln499His)
|
rs577566573
|
|
|
NM_001258392.3(CLPB):c.1514C>G (p.Thr505Ser)
|
rs200812003
|
|
|
NM_001258392.3(CLPB):c.1514C>T (p.Thr505Ile)
|
rs200812003
|
|
|
NM_001258392.3(CLPB):c.1530C>G (p.Phe510Leu)
|
rs778078736
|
|
|
NM_001258392.3(CLPB):c.1548C>T (p.Arg516=)
|
|
|
|
NM_001258392.3(CLPB):c.1552A>C (p.Ile518Leu)
|
|
|
|
NM_001258392.3(CLPB):c.1552A>G (p.Ile518Val)
|
rs1949516441
|
|
|
NM_001258392.3(CLPB):c.1560+19C>T
|
|
|
|
NM_001258392.3(CLPB):c.1560+2_1560+5del
|
|
|
|
NM_001258392.3(CLPB):c.1561-12C>G
|
|
|
|
NM_001258392.3(CLPB):c.1561-18_1561-12del
|
rs1166987571
|
|
|
NM_001258392.3(CLPB):c.1561-20C>T
|
|
|
|
NM_001258392.3(CLPB):c.1561-7C>T
|
|
|
|
NM_001258392.3(CLPB):c.1574G>A (p.Arg525Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
|
rs1590753263
|
|
|
NM_001258392.3(CLPB):c.157G>A (p.Gly53Arg)
|
|
|
|
NM_001258392.3(CLPB):c.157G>T (p.Gly53Trp)
|
|
|
|
NM_001258392.3(CLPB):c.158G>C (p.Gly53Ala)
|
|
|
|
NM_001258392.3(CLPB):c.1591C>T (p.Arg531Trp)
|
rs1949512456
|
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
|
NM_001258392.3(CLPB):c.1598A>G (p.Asn533Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1610A>C (p.Tyr537Ser)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
|
NM_001258392.3(CLPB):c.1610A>T (p.Tyr537Phe)
|
|
|
|
NM_001258392.3(CLPB):c.1623C>T (p.Phe541=)
|
|
|
|
NM_001258392.3(CLPB):c.1631C>G (p.Ser544Trp)
|
rs1430716011
|
|
|
NM_001258392.3(CLPB):c.1632G>A (p.Ser544=)
|
|
|
|
NM_001258392.3(CLPB):c.1640T>C (p.Ile547Thr)
|
|
|
|
NM_001258392.3(CLPB):c.1644A>G (p.Gln548=)
|
rs1949510719
|
|
|
NM_001258392.3(CLPB):c.1648G>A (p.Val550Ile)
|
|
|
|
NM_001258392.3(CLPB):c.1677G>T (p.Lys559Asn)
|
rs2135485638
|
|
|
NM_001258392.3(CLPB):c.1680+2dup
|
|
|
|
NM_001258392.3(CLPB):c.1680+6A>C
|
rs1949509457
|
|
|
NM_001258392.3(CLPB):c.1680+9G>A
|
|
|
|
NM_001258392.3(CLPB):c.1681-17T>C
|
|
|
|
NM_001258392.3(CLPB):c.1681-1G>A
|
|
|
|
NM_001258392.3(CLPB):c.1681-3C>T
|
|
|
|
NM_001258392.3(CLPB):c.1718G>C (p.Arg573Pro)
|
rs765245566
|
|
|
NM_001258392.3(CLPB):c.1720G>A (p.Glu574Lys)
|
|
|
|
NM_001258392.3(CLPB):c.1727C>G (p.Ala576Gly)
|
|
|
|
NM_001258392.3(CLPB):c.174A>G (p.Thr58=)
|
|
|
|
NM_001258392.3(CLPB):c.1750A>G (p.Asn584Asp)
|
|
|
|
NM_001258392.3(CLPB):c.1758C>G (p.His586Gln)
|
rs2135484836
|
|
|
NM_001258392.3(CLPB):c.1764C>T (p.Gly588=)
|
|
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
|
NM_001258392.3(CLPB):c.1785+13G>A
|
|
|
|
NM_001258392.3(CLPB):c.1795C>A (p.Arg599Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1795C>T (p.Arg599Cys)
|
rs369227883
|
|
|
NM_001258392.3(CLPB):c.1799T>C (p.Val600Ala)
|
|
|
|
NM_001258392.3(CLPB):c.17T>A (p.Val6Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1817C>T (p.Ala606Val)
|
|
|
|
NM_001258392.3(CLPB):c.1823A>G (p.Tyr608Cys)
|
|
|
|
NM_001258392.3(CLPB):c.182C>T (p.Ala61Val)
|
rs767517671
|
|
|
NM_001258392.3(CLPB):c.1832A>T (p.Asp611Val)
|
rs767839493
|
|
|
NM_001258392.3(CLPB):c.1836G>T (p.Leu612=)
|
|
|
|
NM_001258392.3(CLPB):c.183C>T (p.Ala61=)
|
|
|
|
NM_001258392.3(CLPB):c.1847G>C (p.Gly616Ala)
|
rs759500860
|
|
|
NM_001258392.3(CLPB):c.1858C>T (p.Arg620Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
|
rs137882645
|
|
|
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu)
|
rs137882645
|
|
|
NM_001258392.3(CLPB):c.1861A>G (p.Ile621Val)
|
rs755357754
|
|
|
NM_001258392.3(CLPB):c.1890A>G (p.Leu630=)
|
|
|
|
NM_001258392.3(CLPB):c.1902A>C (p.Pro634=)
|
rs776395544
|
|
|
NM_001258392.3(CLPB):c.1902A>G (p.Pro634=)
|
|
|
|
NM_001258392.3(CLPB):c.1908G>A (p.Leu636=)
|
rs2135483654
|
|
|
NM_001258392.3(CLPB):c.1909C>T (p.Pro637Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1910C>G (p.Pro637Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1920G>A (p.Gln640=)
|
|
|
|
NM_001258392.3(CLPB):c.1920G>C (p.Gln640His)
|
|
|
|
NM_001258392.3(CLPB):c.1930C>T (p.Arg644Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1931G>A (p.Arg644His)
|
|
|
|
NM_001258392.3(CLPB):c.193G>A (p.Gly65Arg)
|
rs368496010
|
|
|
NM_001258392.3(CLPB):c.193G>C (p.Gly65Arg)
|
|
|
|
NM_001258392.3(CLPB):c.193G>T (p.Gly65Ter)
|
rs368496010
|
|
|
NM_001258392.3(CLPB):c.1940A>G (p.Lys647Arg)
|
|
|
|
NM_001258392.3(CLPB):c.1945C>T (p.Arg649Cys)
|
|
|
|
NM_001258392.3(CLPB):c.1959C>G (p.Ile653Met)
|
|
|
|
NM_001258392.3(CLPB):c.1959C>T (p.Ile653=)
|
|
|
|
NM_001258392.3(CLPB):c.1960G>A (p.Asp654Asn)
|
|
|
|
NM_001258392.3(CLPB):c.1972A>G (p.Lys658Glu)
|
|
|
|
NM_001258392.3(CLPB):c.1976C>G (p.Thr659Ser)
|
|
|
|
NM_001258392.3(CLPB):c.1981A>G (p.Arg661Gly)
|
rs2135483452
|
|
|
NM_001258392.3(CLPB):c.2009_2010del (p.Pro670fs)
|
|
|
|
NM_001258392.3(CLPB):c.2021G>A (p.Cys674Tyr)
|
|
|
|
NM_001258392.3(CLPB):c.2021G>T (p.Cys674Phe)
|
rs372096809
|
|
|
NM_001258392.3(CLPB):c.2023_*4del (p.Asn675fs)
|
rs1362604874
|
|
|
NM_001258392.3(CLPB):c.2028C>T (p.Thr676=)
|
rs2135483266
|
|
|
NM_001258392.3(CLPB):c.202G>A (p.Ala68Thr)
|
|
|
|
NM_001258392.3(CLPB):c.2033A>G (p.Ter678Trp)
|
rs1949484806
|
|
|
NM_001258392.3(CLPB):c.2034del (p.Ter678TyrextTer?)
|
|
|
|
NM_001258392.3(CLPB):c.203C>A (p.Ala68Glu)
|
rs746191886
|
|
|
NM_001258392.3(CLPB):c.209C>A (p.Thr70Asn)
|
|
|
|
NM_001258392.3(CLPB):c.211G>T (p.Gly71Trp)
|
|
|
|
NM_001258392.3(CLPB):c.212G>A (p.Gly71Glu)
|
|
|
|
NM_001258392.3(CLPB):c.213G>A (p.Gly71=)
|
rs1856645490
|
|
|
NM_001258392.3(CLPB):c.217C>A (p.Arg73Ser)
|
|
|
|
NM_001258392.3(CLPB):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_001258392.3(CLPB):c.230G>C (p.Arg77Pro)
|
|
|
|
NM_001258392.3(CLPB):c.242A>G (p.Lys81Arg)
|
rs1293473561
|
|
|
NM_001258392.3(CLPB):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_001258392.3(CLPB):c.256_261del (p.Ala86_Thr87del)
|
rs1565108155
|
|
|
NM_001258392.3(CLPB):c.257C>T (p.Ala86Val)
|
rs2135181668
|
|
|
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile)
|
rs1424542665
|
|
|
NM_001258392.3(CLPB):c.270C>T (p.Arg90=)
|
|
|
|
NM_001258392.3(CLPB):c.271C>T (p.Leu91Phe)
|
|
|
|
NM_001258392.3(CLPB):c.278G>A (p.Gly93Asp)
|
|
|
|
NM_001258392.3(CLPB):c.278G>C (p.Gly93Ala)
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|
|
|
NM_001258392.3(CLPB):c.278dup (p.Pro94fs)
|
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|
|
NM_001258392.3(CLPB):c.282C>T (p.Pro94=)
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|
|
|
NM_001258392.3(CLPB):c.303G>A (p.Gln101=)
|
|
|
|
NM_001258392.3(CLPB):c.315C>T (p.Asn105=)
|
|
|
|
NM_001258392.3(CLPB):c.325A>G (p.Ser109Gly)
|
rs1856636073
|
|
|
NM_001258392.3(CLPB):c.328A>G (p.Arg110Gly)
|
|
|
|
NM_001258392.3(CLPB):c.343A>C (p.Met115Leu)
|
|
|
|
NM_001258392.3(CLPB):c.343A>G (p.Met115Val)
|
rs755190312
|
|
|
NM_001258392.3(CLPB):c.34C>G (p.Leu12Val)
|
|
|
|
NM_001258392.3(CLPB):c.34C>T (p.Leu12=)
|
|
|
|
NM_001258392.3(CLPB):c.350C>T (p.Ala117Val)
|
rs563749368
|
|
|
NM_001258392.3(CLPB):c.352C>T (p.Leu118=)
|
|
|
|
NM_001258392.3(CLPB):c.354_355delinsCT (p.Ala119Ser)
|
|
|
|
NM_001258392.3(CLPB):c.361G>A (p.Ala121Thr)
|
|
|
|
NM_001258392.3(CLPB):c.361G>T (p.Ala121Ser)
|
|
|
|
NM_001258392.3(CLPB):c.369G>T (p.Val123=)
|
|
|
|
NM_001258392.3(CLPB):c.373C>G (p.His125Asp)
|
|
|
|
NM_001258392.3(CLPB):c.378C>T (p.Cys126=)
|
|
|
|
NM_001258392.3(CLPB):c.380A>G (p.Tyr127Cys)
|
|
|
|
NM_001258392.3(CLPB):c.384C>A (p.Ser128Arg)
|
rs745934487
|
|
|
NM_001258392.3(CLPB):c.391C>A (p.Pro131Thr)
|
|
|
|
NM_001258392.3(CLPB):c.393G>A (p.Pro131=)
|
rs1856631048
|
|
|
NM_001258392.3(CLPB):c.395C>T (p.Ser132Phe)
|
|
|
|
NM_001258392.3(CLPB):c.403+13T>G
|
|
|
|
NM_001258392.3(CLPB):c.403+14C>T
|
|
|
|
NM_001258392.3(CLPB):c.403+15T>G
|
|
|
|
NM_001258392.3(CLPB):c.403+6T>C
|
rs944669671
|
|
|
NM_001258392.3(CLPB):c.403+7_403+8del
|
rs754849241
|
|
|
NM_001258392.3(CLPB):c.403G>A (p.Asp135Asn)
|
|
|
|
NM_001258392.3(CLPB):c.404-12dup
|
|
|
|
NM_001258392.3(CLPB):c.404-14C>T
|
|
|
|
NM_001258392.3(CLPB):c.404-15C>G
|
|
|
|
NM_001258392.3(CLPB):c.404-17G>A
|
|
|
|
NM_001258392.3(CLPB):c.404-17G>C
|
|
|
|
NM_001258392.3(CLPB):c.406G>A (p.Ala136Thr)
|
|
|
|
NM_001258392.3(CLPB):c.413T>C (p.Leu138Pro)
|
rs1384482038
|
|
|
NM_001258392.3(CLPB):c.419A>C (p.Glu140Ala)
|
|
|
|
NM_001258392.3(CLPB):c.41C>T (p.Pro14Leu)
|
rs1194145425
|
|
|
NM_001258392.3(CLPB):c.422C>T (p.Ala141Val)
|
rs1219520636
|
|
|
NM_001258392.3(CLPB):c.427C>A (p.Arg143Ser)
|
|
|
|
NM_001258392.3(CLPB):c.428G>A (p.Arg143His)
|
|
|
|
NM_001258392.3(CLPB):c.447A>G (p.Glu149=)
|
rs1856508277
|
|
|
NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)
|
rs1856508068
|
|
|
NM_001258392.3(CLPB):c.450C>A (p.Val150=)
|
rs2135168122
|
|
|
NM_001258392.3(CLPB):c.451A>G (p.Ser151Gly)
|
|
|
|
NM_001258392.3(CLPB):c.452G>A (p.Ser151Asn)
|
|
|
|
NM_001258392.3(CLPB):c.455G>A (p.Arg152Lys)
|
|
|
|
NM_001258392.3(CLPB):c.491A>C (p.His164Pro)
|
|
|
|
NM_001258392.3(CLPB):c.491A>G (p.His164Arg)
|
|
|
|
NM_001258392.3(CLPB):c.497T>G (p.Leu166Arg)
|
rs2135083426
|
|
|
NM_001258392.3(CLPB):c.50T>G (p.Leu17Arg)
|
|
|
|
NM_001258392.3(CLPB):c.513C>G (p.Leu171=)
|
rs1017640223
|
|
|
NM_001258392.3(CLPB):c.513C>T (p.Leu171=)
|
|
|
|
NM_001258392.3(CLPB):c.517G>A (p.Val173Met)
|
|
|
|
NM_001258392.3(CLPB):c.528C>A (p.Ile176=)
|
rs766521266
|
|
|
NM_001258392.3(CLPB):c.533G>A (p.Arg178Gln)
|
|
|
|
NM_001258392.3(CLPB):c.538A>G (p.Asn180Asp)
|
|
|
|
NM_001258392.3(CLPB):c.539A>G (p.Asn180Ser)
|
|
|
|
NM_001258392.3(CLPB):c.542+13C>A
|
|
|
|
NM_001258392.3(CLPB):c.542+15T>C
|
|
|
|
NM_001258392.3(CLPB):c.542+18A>G
|
|
|
|
NM_001258392.3(CLPB):c.546G>A (p.Val182=)
|
rs1854871823
|
|
|
NM_001258392.3(CLPB):c.547G>A (p.Val183Ile)
|
|
|
|
NM_001258392.3(CLPB):c.553G>C (p.Val185Leu)
|
|
|
|
NM_001258392.3(CLPB):c.555C>T (p.Val185=)
|
rs770534948
|
|
|
NM_001258392.3(CLPB):c.56G>A (p.Arg19Gln)
|
rs1856655686
|
|
|
NM_001258392.3(CLPB):c.578C>T (p.Pro193Leu)
|
rs2135677270
|
|
|
NM_001258392.3(CLPB):c.599G>A (p.Ser200Asn)
|
|
|
|
NM_001258392.3(CLPB):c.646+14G>C
|
|
|
|
NM_001258392.3(CLPB):c.646+7247C>T
|
|
|
|
NM_001258392.3(CLPB):c.646+7257G>A
|
|
|
|
NM_001258392.3(CLPB):c.646+7367del
|
|
|
|
NM_001258392.3(CLPB):c.646+7369C>T
|
|
|
|
NM_001258392.3(CLPB):c.646+7372T>C
|
|
|
|
NM_001258392.3(CLPB):c.646+7375A>G
|
|
|
|
NM_001258392.3(CLPB):c.646+7G>A
|
rs1854866433
|
|
|
NM_001258392.3(CLPB):c.647-10G>A
|
rs2135614152
|
|
|
NM_001258392.3(CLPB):c.654C>T (p.Ile218=)
|
|
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
|
NM_001258392.3(CLPB):c.663G>A (p.Glu221=)
|
rs571326442
|
|
|
NM_001258392.3(CLPB):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_001258392.3(CLPB):c.669C>T (p.Asp223=)
|
|
|
|
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met)
|
rs1284671735
|
|
|
NM_001258392.3(CLPB):c.689A>T (p.Asn230Ile)
|
|
|
|
NM_001258392.3(CLPB):c.694G>C (p.Ala232Pro)
|
|
|
|
NM_001258392.3(CLPB):c.709T>G (p.Cys237Gly)
|
|
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
|
NM_001258392.3(CLPB):c.733C>G (p.Leu245Val)
|
|
|
|
NM_001258392.3(CLPB):c.748C>T (p.Arg250Cys)
|
rs146762466
|
|
|
NM_001258392.3(CLPB):c.749G>A (p.Arg250His)
|
|
|
|
NM_001258392.3(CLPB):c.759G>A (p.Lys253=)
|
|
|
|
NM_001258392.3(CLPB):c.760_761inv (p.Glu254Ser)
|
|
|
|
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro)
|
rs1555098495
|
|
|
NM_001258392.3(CLPB):c.775+14T>C
|
|
|
|
NM_001258392.3(CLPB):c.775+1G>A
|
|
|
|
NM_001258392.3(CLPB):c.776-10C>A
|
rs141271919
|
|
|
NM_001258392.3(CLPB):c.776-13C>A
|
|
|
|
NM_001258392.3(CLPB):c.776-17C>T
|
rs2135549983
|
|
|
NM_001258392.3(CLPB):c.776-5G>T
|
rs1253919639
|
|
|
NM_001258392.3(CLPB):c.780C>T (p.Ala260=)
|
|
|
|
NM_001258392.3(CLPB):c.782A>T (p.Asn261Ile)
|
|
|
|
NM_001258392.3(CLPB):c.784C>A (p.Pro262Thr)
|
|
|
|
NM_001258392.3(CLPB):c.790C>T (p.Gln264Ter)
|
|
|
|
NM_001258392.3(CLPB):c.795G>A (p.Arg265=)
|
|
|
|
NM_001258392.3(CLPB):c.79C>T (p.Arg27Trp)
|
|
|
|
NM_001258392.3(CLPB):c.806G>T (p.Gly269Val)
|
rs1390365704
|
|
|
NM_001258392.3(CLPB):c.812C>G (p.Thr271Arg)
|
rs757880862
|
|
|
NM_001258392.3(CLPB):c.816C>T (p.Pro272=)
|
|
|
|
NM_001258392.3(CLPB):c.837G>A (p.Gly279=)
|
rs2135549683
|
|
|
NM_001258392.3(CLPB):c.839A>C (p.Glu280Ala)
|
|
|
|
NM_001258392.3(CLPB):c.843G>A (p.Val281=)
|
rs2135549653
|
|
|
NM_001258392.3(CLPB):c.850C>T (p.Leu284Phe)
|
|
|
|
NM_001258392.3(CLPB):c.860C>T (p.Thr287Ile)
|
rs1318523407
|
|
|
NM_001258392.3(CLPB):c.873+1G>A
|
rs974377052
|
|
|
NM_001258392.3(CLPB):c.874-10C>G
|
|
|
|
NM_001258392.3(CLPB):c.874-7C>G
|
|
|
|
NM_001258392.3(CLPB):c.877C>A (p.Gln293Lys)
|
rs1949961706
|
|
|
NM_001258392.3(CLPB):c.886C>G (p.Gln296Glu)
|
|
|
|
NM_001258392.3(CLPB):c.88G>A (p.Gly30Arg)
|
|
|
|
NM_001258392.3(CLPB):c.896G>C (p.Arg299Pro)
|
rs547532550
|
|
|
NM_001258392.3(CLPB):c.896G>T (p.Arg299Leu)
|
|
|
|
NM_001258392.3(CLPB):c.897T>G (p.Arg299=)
|
|
|
|
NM_001258392.3(CLPB):c.905A>G (p.Glu302Gly)
|
rs745539947
|
|
|
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
|
rs144712077
|
|
|
NM_001258392.3(CLPB):c.908A>T (p.Glu303Val)
|
rs144712077
|
|
|
NM_001258392.3(CLPB):c.909G>A (p.Glu303=)
|
|
|
|
NM_001258392.3(CLPB):c.917G>A (p.Arg306His)
|
|
|
|
NM_001258392.3(CLPB):c.925C>G (p.Leu309Val)
|
rs941057831
|
|
|
NM_001258392.3(CLPB):c.937C>G (p.Leu313Val)
|
|
|
|
NM_001258392.3(CLPB):c.942G>A (p.Lys314=)
|
|
|
|
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
|
rs1590786067
|
|
|
NM_001258392.3(CLPB):c.95C>T (p.Ala32Val)
|
|
|
|
NM_001258392.3(CLPB):c.967G>T (p.Ala323Ser)
|
|
|
|
NM_001258392.3(CLPB):c.971T>A (p.Ile324Asn)
|
|
|
|
NM_001258392.3(CLPB):c.972C>T (p.Ile324=)
|
|
|
|
NM_001258392.3(CLPB):c.973G>A (p.Ala325Thr)
|
|
|
|
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp)
|
rs1565433670
|
|
|
NM_001258392.3(CLPB):c.988+14A>T
|
rs2135527417
|
|
|
NM_001258392.3(CLPB):c.988+16A>G
|
|
|
|
NM_001258392.3(CLPB):c.988G>A (p.Ala330Thr)
|
rs2135527446
|
|
|
NM_001258392.3(CLPB):c.989-4G>A
|
|
|
|
NM_001258392.3(CLPB):c.989C>G (p.Ala330Gly)
|
rs144942416
|
|
|
NM_001258392.3(CLPB):c.992T>C (p.Ile331Thr)
|
rs2135512844
|
|
|
NM_001258392.3(CLPB):c.995G>A (p.Arg332Gln)
|
|
|
|
NM_001258392.3(CLPB):c.99C>A (p.Ser33=)
|
rs1277330273
|
|
|
NM_001258392.3(CLPB):c.99C>G (p.Ser33=)
|
|
|
|
NM_001258392.3(CLPB):c.9G>A (p.Gly3=)
|
|
|
|
NM_001271.4(CHD2):c.1003C>A (p.Leu335Ile)
|
rs369773756
|
|
|
NM_001271.4(CHD2):c.1008A>G (p.Lys336=)
|
|
|
|
NM_001271.4(CHD2):c.1011A>G (p.Lys337=)
|
|
|
|
NM_001271.4(CHD2):c.1011dup (p.Leu338fs)
|
|
|
|
NM_001271.4(CHD2):c.1015G>A (p.Glu339Lys)
|
|
|
|
NM_001271.4(CHD2):c.1032A>G (p.Lys344=)
|
|
|
|
NM_001271.4(CHD2):c.1032dup (p.Glu345fs)
|
rs2053406905
|
|
|
NM_001271.4(CHD2):c.1039G>A (p.Glu347Lys)
|
|
|
|
NM_001271.4(CHD2):c.103A>G (p.Ser35Gly)
|
|
|
|
NM_001271.4(CHD2):c.1042A>G (p.Ile348Val)
|
|
|
|
NM_001271.4(CHD2):c.1045A>G (p.Lys349Glu)
|
|
|
|
NM_001271.4(CHD2):c.1052+12A>G
|
|
|
|
NM_001271.4(CHD2):c.1052+15A>G
|
|
|
|
NM_001271.4(CHD2):c.1052+16T>C
|
|
|
|
NM_001271.4(CHD2):c.1052+17G>A
|
|
|
|
NM_001271.4(CHD2):c.1052+1G>T
|
|
|
|
NM_001271.4(CHD2):c.1052+2T>C
|
rs2141787733
|
|
|
NM_001271.4(CHD2):c.1052+4T>C
|
|
|
|
NM_001271.4(CHD2):c.1052+5A>G
|
|
|
|
NM_001271.4(CHD2):c.1053-11C>G
|
rs2141790964
|
|
|
NM_001271.4(CHD2):c.1053-17G>A
|
|
|
|
NM_001271.4(CHD2):c.1053-2A>C
|
|
|
|
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter)
|
rs1555439714
|
|
|
NM_001271.4(CHD2):c.1080A>G (p.Val360=)
|
|
|
|
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter)
|
rs1555439719
|
|
|
NM_001271.4(CHD2):c.1091A>T (p.Asn364Ile)
|
rs143043614
|
|
|
NM_001271.4(CHD2):c.1096C>T (p.Gln366Ter)
|
|
|
|
NM_001271.4(CHD2):c.1099C>T (p.Gln367Ter)
|
rs2053431103
|
|
|
NM_001271.4(CHD2):c.111G>A (p.Ser37=)
|
|
|
|
NM_001271.4(CHD2):c.1125A>G (p.Lys375=)
|
|
|
|
NM_001271.4(CHD2):c.1135A>G (p.Ile379Val)
|
|
|
|
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer)
|
rs1567136357
|
|
|
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
|
rs1596397712
|
|
|
NM_001271.4(CHD2):c.1153+4_1153+7dup
|
|
|
|
NM_001271.4(CHD2):c.1153+9A>G
|
|
|
|
NM_001271.4(CHD2):c.1154-3del
|
rs760631104
|
|
|
NM_001271.4(CHD2):c.1154-5T>A
|
rs767803710
|
|
|
NM_001271.4(CHD2):c.1155T>C (p.Ala385=)
|
|
|
|
NM_001271.4(CHD2):c.1164A>G (p.Thr388=)
|
|
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
|
NM_001271.4(CHD2):c.1177T>A (p.Leu393Met)
|
|
|
|
NM_001271.4(CHD2):c.1180G>T (p.Gly394Cys)
|
rs771650465
|
|
|
NM_001271.4(CHD2):c.1196del (p.Pro399fs)
|
|
|
|
NM_001271.4(CHD2):c.1198+12A>G
|
|
|
|
NM_001271.4(CHD2):c.1198+18T>C
|
|
|
|
NM_001271.4(CHD2):c.1198+2T>C
|
|
|
|
NM_001271.4(CHD2):c.1199-12T>A
|
rs1474100681
|
|
|
NM_001271.4(CHD2):c.1199-12del
|
rs750508601
|
|
|
NM_001271.4(CHD2):c.1199-12dup
|
|
|
|
NM_001271.4(CHD2):c.1199-20A>T
|
|
|
|
NM_001271.4(CHD2):c.1199-8T>C
|
rs2141795407
|
|
|
NM_001271.4(CHD2):c.11_14del (p.Asn4fs)
|
|
|
|
NM_001271.4(CHD2):c.1203T>A (p.His401Gln)
|
rs1567137019
|
|
|
NM_001271.4(CHD2):c.1203T>C (p.His401=)
|
rs1567137019
|
|
|
NM_001271.4(CHD2):c.1208G>A (p.Arg403Gln)
|
|
|
|
NM_001271.4(CHD2):c.1219C>A (p.Pro407Thr)
|
rs2141795454
|
|
|
NM_001271.4(CHD2):c.121del (p.Gln41fs)
|
|
|
|
NM_001271.4(CHD2):c.1225A>C (p.Asn409His)
|
rs531251618
|
|
|
NM_001271.4(CHD2):c.1225A>T (p.Asn409Tyr)
|
|
|
|
NM_001271.4(CHD2):c.1234G>A (p.Glu412Lys)
|
rs541056569
|
|
|
NM_001271.4(CHD2):c.1234_1235delinsAC (p.Glu412Thr)
|
rs2053463440
|
|
|
NM_001271.4(CHD2):c.1238A>G (p.Tyr413Cys)
|
|
|
|
NM_001271.4(CHD2):c.1244G>A (p.Cys415Tyr)
|
|
|
|
NM_001271.4(CHD2):c.1254G>A (p.Met418Ile)
|
|
|
|
NM_001271.4(CHD2):c.1260C>G (p.Leu420=)
|
rs772268139
|
|
|
NM_001271.4(CHD2):c.1272G>A (p.Glu424=)
|
|
|
|
NM_001271.4(CHD2):c.1282G>C (p.Glu428Gln)
|
|
|
|
NM_001271.4(CHD2):c.1284A>G (p.Glu428=)
|
rs2141795543
|
|
|
NM_001271.4(CHD2):c.1291G>C (p.Ala431Pro)
|
|
|
|
NM_001271.4(CHD2):c.1293C>T (p.Ala431=)
|
|
|
|
NM_001271.4(CHD2):c.1311_1318del (p.Phe437fs)
|
|
|
|
NM_001271.4(CHD2):c.1318T>C (p.Cys440Arg)
|
rs763507530
|
|
|
NM_001271.4(CHD2):c.1319G>T (p.Cys440Phe)
|
rs2053464128
|
|
|
NM_001271.4(CHD2):c.1327A>G (p.Ser443Gly)
|
rs2141795625
|
|
|
NM_001271.4(CHD2):c.1328G>C (p.Ser443Thr)
|
|
|
|
NM_001271.4(CHD2):c.1334A>G (p.His445Arg)
|
rs750053293
|
|
|
NM_001271.4(CHD2):c.1347C>T (p.Asn449=)
|
|
|
|
NM_001271.4(CHD2):c.1357A>G (p.Ile453Val)
|
rs144393676
|
|
|
NM_001271.4(CHD2):c.1372T>C (p.Cys458Arg)
|
rs1769067223
|
|
|
NM_001271.4(CHD2):c.1377+12G>T
|
|
|
|
NM_001271.4(CHD2):c.1377+16G>T
|
rs1182159823
|
|
|
NM_001271.4(CHD2):c.1377+4T>C
|
rs2053464708
|
|
|
NM_001271.4(CHD2):c.1377+6G>A
|
rs2053464769
|
|
|
NM_001271.4(CHD2):c.1378-14C>T
|
|
|
|
NM_001271.4(CHD2):c.1378-15G>A
|
|
|
|
NM_001271.4(CHD2):c.1378-15G>C
|
rs2053515097
|
|
|
NM_001271.4(CHD2):c.1380C>T (p.Ala460=)
|
|
|
|
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer)
|
rs1567138270
|
|
|
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)
|
rs398123000
|
|
|
NM_001271.4(CHD2):c.140G>A (p.Ser47Asn)
|
|
|
|
NM_001271.4(CHD2):c.1430del (p.Tyr476_Leu477insTer)
|
|
|
|
NM_001271.4(CHD2):c.1436G>C (p.Gly479Ala)
|
|
|
|
NM_001271.4(CHD2):c.1453C>T (p.Arg485Ter)
|
rs1567138301
|
|
|
NM_001271.4(CHD2):c.1497del (p.Trp499fs)
|
rs2141802578
|
|
|
NM_001271.4(CHD2):c.1502+18A>G
|
|
|
|
NM_001271.4(CHD2):c.1502+19G>T
|
|
|
|
NM_001271.4(CHD2):c.1502+4G>A
|
|
|
|
NM_001271.4(CHD2):c.1503-10C>T
|
|
|
|
NM_001271.4(CHD2):c.1503-19T>C
|
rs1390489313
|
|
|
NM_001271.4(CHD2):c.1503-20T>C
|
|
|
|
NM_001271.4(CHD2):c.1503-2A>G
|
|
|
|
NM_001271.4(CHD2):c.1504_1505delAA (p.Lys501_Asn502insTer)
|
|
|
|
NM_001271.4(CHD2):c.1508A>C (p.Asn503Thr)
|
|
|
|
NM_001271.4(CHD2):c.151A>G (p.Ser51Gly)
|
|
|
|
NM_001271.4(CHD2):c.1521T>G (p.Leu507=)
|
rs2141811515
|
|
|
NM_001271.4(CHD2):c.1524T>G (p.Ala508=)
|
|
|
|
NM_001271.4(CHD2):c.1535G>C (p.Gly512Ala)
|
rs2053579153
|
|
|
NM_001271.4(CHD2):c.1541dup (p.Thr516fs)
|
rs2053579191
|
|
|
NM_001271.4(CHD2):c.154G>A (p.Glu52Lys)
|
|
|
|
NM_001271.4(CHD2):c.1558A>G (p.Ile520Val)
|
rs773793367
|
|
|
NM_001271.4(CHD2):c.1575C>A (p.Tyr525Ter)
|
|
|
|
NM_001271.4(CHD2):c.1576C>T (p.Leu526=)
|
rs2141811552
|
|
|
NM_001271.4(CHD2):c.1581C>T (p.Phe527=)
|
rs2053579395
|
|
|
NM_001271.4(CHD2):c.158C>T (p.Ser53Leu)
|
rs368237024
|
|
|
NM_001271.4(CHD2):c.1599T>C (p.Tyr533=)
|
|
|
|
NM_001271.4(CHD2):c.159G>T (p.Ser53=)
|
|
|
|
NM_001271.4(CHD2):c.1602C>T (p.Gly534=)
|
rs2141811584
|
|
|
NM_001271.4(CHD2):c.1603C>T (p.Pro535Ser)
|
|
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
|
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile)
|
rs1368222485
|
|
|
NM_001271.4(CHD2):c.1629C>G (p.Ser543=)
|
|
|
|
NM_001271.4(CHD2):c.1632C>T (p.Thr544=)
|
|
|
|
NM_001271.4(CHD2):c.1637_1638del (p.Thr546fs)
|
rs2141811616
|
|
|
NM_001271.4(CHD2):c.1641A>G (p.Ser547=)
|
|
|
|
NM_001271.4(CHD2):c.1645C>A (p.Gln549Lys)
|
rs1392359380
|
|
|
NM_001271.4(CHD2):c.1645C>T (p.Gln549Ter)
|
|
|
|
NM_001271.4(CHD2):c.1650_1653del (p.Arg550fs)
|
rs886041628
|
|
|
NM_001271.4(CHD2):c.1666G>A (p.Ala556Thr)
|
rs2053579900
|
|
|
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu)
|
rs1060503520
|
|
|
NM_001271.4(CHD2):c.1686G>C (p.Val562=)
|
rs2141811679
|
|
|
NM_001271.4(CHD2):c.1702C>G (p.Leu568Val)
|
|
|
|
NM_001271.4(CHD2):c.1719+18G>T
|
|
|
|
NM_001271.4(CHD2):c.1719G>A (p.Thr573=)
|
rs1057519228
|
|
|
NM_001271.4(CHD2):c.171T>C (p.Ser57=)
|
rs2053018449
|
|
|
NM_001271.4(CHD2):c.171T>G (p.Ser57=)
|
|
|
|
NM_001271.4(CHD2):c.1720-155_1727delinsT
|
rs1596406306
|
|
|
NM_001271.4(CHD2):c.1720-17A>C
|
|
|
|
NM_001271.4(CHD2):c.1720-17A>G
|
|
|
|
NM_001271.4(CHD2):c.1720-3T>C
|
rs759231634
|
|
|
NM_001271.4(CHD2):c.1720-7C>T
|
|
|
|
NM_001271.4(CHD2):c.1720-8T>C
|
rs2053606565
|
|
|
NM_001271.4(CHD2):c.1720A>C (p.Ile574Leu)
|
rs2141814804
|
|
|
NM_001271.4(CHD2):c.1723C>A (p.Arg575=)
|
|
|
|
NM_001271.4(CHD2):c.1729T>C (p.Tyr577His)
|
rs2141814817
|
|
|
NM_001271.4(CHD2):c.1729T>G (p.Tyr577Asp)
|
rs2141814817
|
|
|
NM_001271.4(CHD2):c.1737G>C (p.Trp579Cys)
|
rs2141814824
|
|
|
NM_001271.4(CHD2):c.1738A>C (p.Ile580Leu)
|
|
|
|
NM_001271.4(CHD2):c.1745C>G (p.Ser582Cys)
|
rs2053606798
|
|
|
NM_001271.4(CHD2):c.1753A>G (p.Lys585Glu)
|
rs2141814847
|
|
|
NM_001271.4(CHD2):c.1754_1785del (p.Lys585fs)
|
rs2053606835
|
|
|
NM_001271.4(CHD2):c.1756A>C (p.Arg586=)
|
rs1596406455
|
|
|
NM_001271.4(CHD2):c.1757G>A (p.Arg586Lys)
|
rs2141814855
|
|
|
NM_001271.4(CHD2):c.1759T>C (p.Leu587=)
|
|
|
|
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr)
|
rs1060503521
|
|
|
NM_001271.4(CHD2):c.1774C>T (p.Leu592Phe)
|
rs2141814881
|
|
|
NM_001271.4(CHD2):c.1778T>G (p.Ile593Arg)
|
rs2053607137
|
|
|
NM_001271.4(CHD2):c.1785A>G (p.Thr595=)
|
rs1192477751
|
|
|
NM_001271.4(CHD2):c.1787_1788del (p.Thr595_Tyr596insTer)
|
rs2141814886
|
|
|
NM_001271.4(CHD2):c.1791G>A (p.Glu597=)
|
|
|
|
NM_001271.4(CHD2):c.1809+15T>A
|
|
|
|
NM_001271.4(CHD2):c.1809+1G>A
|
rs1057520592
|
|
|
NM_001271.4(CHD2):c.1810-20C>G
|
|
|
|
NM_001271.4(CHD2):c.1811C>A (p.Thr604Asn)
|
|
|
|
NM_001271.4(CHD2):c.1814_1815del (p.Val605fs)
|
rs2141816511
|
|
|
NM_001271.4(CHD2):c.1815G>A (p.Val605=)
|
|
|
|
NM_001271.4(CHD2):c.1833G>A (p.Trp611Ter)
|
rs2141816525
|
|
|
NM_001271.4(CHD2):c.1836C>G (p.Ala612=)
|
|
|
|
NM_001271.4(CHD2):c.1838T>C (p.Phe613Ser)
|
|
|
|
NM_001271.4(CHD2):c.1858del (p.His620fs)
|
|
|
|
NM_001271.4(CHD2):c.1861C>T (p.Arg621Trp)
|
rs1064795815
|
|
|
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)
|
rs2141816539
|
|
|
NM_001271.4(CHD2):c.1874A>G (p.Asp625Gly)
|
rs2141816546
|
|
|
NM_001271.4(CHD2):c.1880_1883del (p.Ser627fs)
|
rs2141816549
|
|
|
NM_001271.4(CHD2):c.1881T>C (p.Ser627=)
|
rs2141816554
|
|
|
NM_001271.4(CHD2):c.1883del (p.Leu628fs)
|
rs2141816557
|
|
|
NM_001271.4(CHD2):c.188_191del (p.Gln63fs)
|
|
|
|
NM_001271.4(CHD2):c.1894dup (p.Thr632fs)
|
rs2053619207
|
|
|
NM_001271.4(CHD2):c.1897_1898del (p.Leu633fs)
|
rs2053619257
|
|
|
NM_001271.4(CHD2):c.1903_1906del (p.Asp635fs)
|
|
|
|
NM_001271.4(CHD2):c.1916A>G (p.Asn639Ser)
|
|
|
|
NM_001271.4(CHD2):c.1920T>C (p.His640=)
|
rs755517341
|
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
|
NM_001271.4(CHD2):c.1935G>A (p.Thr645=)
|
rs779686192
|
|
|
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu)
|
rs1567141162
|
|
|
NM_001271.4(CHD2):c.1943C>G (p.Pro648Arg)
|
|
|
|
NM_001271.4(CHD2):c.194A>C (p.Glu65Ala)
|
rs2053018824
|
|
|
NM_001271.4(CHD2):c.1955C>A (p.Ser652Tyr)
|
|
|
|
NM_001271.4(CHD2):c.1956C>A (p.Ser652=)
|
|
|
|
NM_001271.4(CHD2):c.1961A>G (p.Lys654Arg)
|
|
|
|
NM_001271.4(CHD2):c.1968_1969dup (p.Trp657fs)
|
|
|
|
NM_001271.4(CHD2):c.1978C>A (p.Leu660Met)
|
rs2141816626
|
|
|
NM_001271.4(CHD2):c.1986T>C (p.Phe662=)
|
|
|
|
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser)
|
rs768407397
|
|
|
NM_001271.4(CHD2):c.2000+13C>T
|
|
|
|
NM_001271.4(CHD2):c.2000+15G>C
|
|
|
|
NM_001271.4(CHD2):c.2000+4A>G
|
|
|
|
NM_001271.4(CHD2):c.2000+9C>T
|
|
|
|
NM_001271.4(CHD2):c.2001-20C>G
|
|
|
|
NM_001271.4(CHD2):c.2001-5C>G
|
|
|
|
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
|
rs2053779282
|
|
|
NM_001271.4(CHD2):c.2005G>C (p.Glu669Gln)
|
|
|
|
NM_001271.4(CHD2):c.2010T>G (p.Phe670Leu)
|
rs1165969857
|
|
|
NM_001271.4(CHD2):c.2013G>A (p.Trp671Ter)
|
|
|
|
NM_001271.4(CHD2):c.2019T>C (p.Asp673=)
|
|
|
|
NM_001271.4(CHD2):c.2032dup (p.His678fs)
|
|
|
|
NM_001271.4(CHD2):c.2035G>A (p.Gly679Arg)
|
rs867188529
|
|
|
NM_001271.4(CHD2):c.2043G>T (p.Gly681=)
|
|
|
|
NM_001271.4(CHD2):c.2045G>T (p.Arg682Ile)
|
|
|
|
NM_001271.4(CHD2):c.204C>G (p.Ser68Arg)
|
rs150919373
|
|
|
NM_001271.4(CHD2):c.204C>T (p.Ser68=)
|
|
|
|
NM_001271.4(CHD2):c.2062A>C (p.Ser688Arg)
|
|
|
|
NM_001271.4(CHD2):c.2067T>G (p.Leu689=)
|
|
|
|
NM_001271.4(CHD2):c.2070T>C (p.His690=)
|
|
|
|
NM_001271.4(CHD2):c.2076G>A (p.Val692=)
|
|
|
|
NM_001271.4(CHD2):c.2076G>T (p.Val692=)
|
|
|
|
NM_001271.4(CHD2):c.2077C>T (p.Leu693=)
|
|
|
|
NM_001271.4(CHD2):c.207A>T (p.Glu69Asp)
|
|
|
|
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
|
rs2053779861
|
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
|
NM_001271.4(CHD2):c.2097G>T (p.Arg699=)
|
|
|
|
NM_001271.4(CHD2):c.20A>G (p.Lys7Arg)
|
rs2052524601
|
|
|
NM_001271.4(CHD2):c.2112T>C (p.Asp704=)
|
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|
|
NM_001271.4(CHD2):c.2118G>A (p.Glu706=)
|
rs763045714
|
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|
NM_001271.4(CHD2):c.2124C>T (p.Ser708=)
|
|
|
|
NM_001271.4(CHD2):c.2125C>T (p.Leu709Phe)
|
rs2141830674
|
|
|
NM_001271.4(CHD2):c.2134A>G (p.Lys712Glu)
|
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|
NM_001271.4(CHD2):c.214G>T (p.Gly72Cys)
|
|
|
|
NM_001271.4(CHD2):c.2175G>C (p.Gln725His)
|
|
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|
NM_001271.4(CHD2):c.2180A>G (p.Gln727Arg)
|
rs2141830697
|
|
|
NM_001271.4(CHD2):c.2189+15G>C
|
|
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|
NM_001271.4(CHD2):c.2189+19T>C
|
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NM_001271.4(CHD2):c.2189+8C>G
|
rs1486555733
|
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|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
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|
NM_001271.4(CHD2):c.2189+8_2189+19del
|
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|
NM_001271.4(CHD2):c.2190-1G>C
|
rs2053845402
|
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NM_001271.4(CHD2):c.219C>A (p.Ser73=)
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NM_001271.4(CHD2):c.2211C>T (p.Tyr737=)
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NM_001271.4(CHD2):c.2214G>C (p.Lys738Asn)
|
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NM_001271.4(CHD2):c.2223C>T (p.Ala741=)
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|
NM_001271.4(CHD2):c.2238C>A (p.Gly746=)
|
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|
|
NM_001271.4(CHD2):c.2244A>G (p.Thr748=)
|
rs760029815
|
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|
NM_001271.4(CHD2):c.2257A>G (p.Asn753Asp)
|
rs2141835724
|
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NM_001271.4(CHD2):c.225C>T (p.Ser75=)
|
rs144667627
|
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NM_001271.4(CHD2):c.2277A>G (p.Lys759=)
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NM_001271.4(CHD2):c.2279A>C (p.Lys760Thr)
|
rs2141835731
|
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NM_001271.4(CHD2):c.2280A>G (p.Lys760=)
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NM_001271.4(CHD2):c.2288_2291del (p.Asn763fs)
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NM_001271.4(CHD2):c.2292C>A (p.His764Gln)
|
rs2141835739
|
|
|
NM_001271.4(CHD2):c.230C>T (p.Pro77Leu)
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NM_001271.4(CHD2):c.2310C>T (p.Pro770=)
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NM_001271.4(CHD2):c.231A>C (p.Pro77=)
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|
NM_001271.4(CHD2):c.2337A>C (p.Gly779=)
|
rs138084718
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NM_001271.4(CHD2):c.2339A>C (p.Gln780Pro)
|
rs2053846412
|
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NM_001271.4(CHD2):c.2341dup (p.Glu781fs)
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NM_001271.4(CHD2):c.2349T>C (p.Leu783=)
|
rs1285009362
|
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NM_001271.4(CHD2):c.234C>T (p.Val78=)
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NM_001271.4(CHD2):c.2352+10del
|
rs1596419038
|
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NM_001271.4(CHD2):c.2352+15A>G
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NM_001271.4(CHD2):c.2352+7_2352+9del
|
rs775279701
|
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NM_001271.4(CHD2):c.2353-15C>T
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NM_001271.4(CHD2):c.2353-16T>C
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NM_001271.4(CHD2):c.2353-18T>C
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NM_001271.4(CHD2):c.2353-3C>T
|
rs558236184
|
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NM_001271.4(CHD2):c.2358C>T (p.Leu786=)
|
rs760012115
|
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NM_001271.4(CHD2):c.235C>G (p.Leu79Val)
|
rs1555437429
|
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NM_001271.4(CHD2):c.2362A>C (p.Arg788=)
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NM_001271.4(CHD2):c.2363G>A (p.Arg788Lys)
|
rs2141836184
|
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NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
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NM_001271.4(CHD2):c.2375A>G (p.Lys792Arg)
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NM_001271.4(CHD2):c.2377T>G (p.Leu793Val)
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NM_001271.4(CHD2):c.237C>T (p.Leu79=)
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NM_001271.4(CHD2):c.239C>A (p.Pro80Gln)
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NM_001271.4(CHD2):c.2402C>A (p.Thr801Lys)
|
rs372801085
|
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NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
|
rs372801085
|
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NM_001271.4(CHD2):c.2403A>G (p.Thr801=)
|
rs2141836198
|
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NM_001271.4(CHD2):c.240A>G (p.Pro80=)
|
rs2141746164
|
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NM_001271.4(CHD2):c.2411G>A (p.Arg804Gln)
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NM_001271.4(CHD2):c.2412A>T (p.Arg804=)
|
rs2141836205
|
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NM_001271.4(CHD2):c.2418G>A (p.Arg806=)
|
rs1330473840
|
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NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter)
|
rs146691368
|
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NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
|
rs1596419511
|
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NM_001271.4(CHD2):c.2434A>G (p.Ile812Val)
|
rs2141836222
|
|
|
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
|
rs2053851669
|
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NM_001271.4(CHD2):c.245C>G (p.Ala82Gly)
|
rs548561366
|
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|
NM_001271.4(CHD2):c.2464A>G (p.Ile822Val)
|
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|
|
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
|
|
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|
NM_001271.4(CHD2):c.2475A>G (p.Glu825=)
|
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|
NM_001271.4(CHD2):c.247A>C (p.Lys83Gln)
|
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|
NM_001271.4(CHD2):c.2497C>T (p.Pro833Ser)
|
rs2053851835
|
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NM_001271.4(CHD2):c.2502C>T (p.Phe834=)
|
rs1461571191
|
|
|
NM_001271.4(CHD2):c.2505+16T>A
|
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NM_001271.4(CHD2):c.2505+4A>G
|
rs767309501
|
|
|
NM_001271.4(CHD2):c.2505+9A>G
|
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|
NM_001271.4(CHD2):c.2506-14G>T
|
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NM_001271.4(CHD2):c.2506-17G>A
|
rs2141839109
|
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|
NM_001271.4(CHD2):c.2506-4A>G
|
rs1259027522
|
|
|
NM_001271.4(CHD2):c.2510T>C (p.Leu837Pro)
|
rs2141839131
|
|
|
NM_001271.4(CHD2):c.2511G>T (p.Leu837=)
|
rs2053887597
|
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|
NM_001271.4(CHD2):c.2535C>A (p.Ile845=)
|
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|
NM_001271.4(CHD2):c.2536C>G (p.Arg846Gly)
|
rs2141839141
|
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NM_001271.4(CHD2):c.2536C>T (p.Arg846Ter)
|
rs2141839141
|
|
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NM_001271.4(CHD2):c.2544G>A (p.Gln848=)
|
rs2053887752
|
|
|
NM_001271.4(CHD2):c.2547A>G (p.Ala849=)
|
rs1596423292
|
|
|
NM_001271.4(CHD2):c.2555A>G (p.His852Arg)
|
rs2053887900
|
|
|
NM_001271.4(CHD2):c.2561A>G (p.Asn854Ser)
|
|
|
|
NM_001271.4(CHD2):c.2567A>G (p.Asp856Gly)
|
rs864309541
|
|
|
NM_001271.4(CHD2):c.2571G>A (p.Gly857=)
|
rs2141839178
|
|
|
NM_001271.4(CHD2):c.2577+15G>A
|
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|
NM_001271.4(CHD2):c.2577+7T>G
|
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NM_001271.4(CHD2):c.2577+8A>G
|
rs867398061
|
|
|
NM_001271.4(CHD2):c.2577+9T>C
|
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|
NM_001271.4(CHD2):c.2583C>G (p.Phe861Leu)
|
rs2141843170
|
|
|
NM_001271.4(CHD2):c.2587_2591del (p.Phe863fs)
|
rs2141843174
|
|
|
NM_001271.4(CHD2):c.2592G>A (p.Leu864=)
|
rs2141843178
|
|
|
NM_001271.4(CHD2):c.2595C>G (p.Leu865=)
|
rs1478427410
|
|
|
NM_001271.4(CHD2):c.2595C>T (p.Leu865=)
|
|
|
|
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)
|
rs1085308000
|
|
|
NM_001271.4(CHD2):c.2597C>T (p.Ser866Leu)
|
rs1085308000
|
|
|
NM_001271.4(CHD2):c.2598G>T (p.Ser866=)
|
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|
|
NM_001271.4(CHD2):c.2614C>T (p.Leu872=)
|
rs2141843184
|
|
|
NM_001271.4(CHD2):c.2617G>A (p.Gly873Arg)
|
|
|
|
NM_001271.4(CHD2):c.2628G>A (p.Leu876=)
|
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|
NM_001271.4(CHD2):c.2646C>T (p.Val882=)
|
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|
NM_001271.4(CHD2):c.2648dup (p.Ile884fs)
|
|
|
|
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
|
rs1596427937
|
|
|
NM_001271.4(CHD2):c.2667G>C (p.Trp889Cys)
|
rs2141843220
|
|
|
NM_001271.4(CHD2):c.2671C>T (p.Pro891Ser)
|
|
|
|
NM_001271.4(CHD2):c.2682C>T (p.Asp894=)
|
|
|
|
NM_001271.4(CHD2):c.2686C>G (p.Gln896Glu)
|
rs2141843235
|
|
|
NM_001271.4(CHD2):c.2698C>G (p.Arg900Gly)
|
rs1567149943
|
|
|
NM_001271.4(CHD2):c.2698C>T (p.Arg900Ter)
|
rs1567149943
|
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
|
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)
|
rs1567149946
|
|
|
NM_001271.4(CHD2):c.2700A>G (p.Arg900=)
|
|
|
|
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
|
rs1596427988
|
|
|
NM_001271.4(CHD2):c.2702C>T (p.Ala901Val)
|
rs2141843246
|
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
|
NM_001271.4(CHD2):c.2708G>T (p.Arg903Ile)
|
rs2141843253
|
|
|
NM_001271.4(CHD2):c.2716C>G (p.Gln906Glu)
|
|
|
|
NM_001271.4(CHD2):c.2727+16C>T
|
|
|
|
NM_001271.4(CHD2):c.2727+20T>A
|
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|
|
NM_001271.4(CHD2):c.2727+5G>T
|
|
|
|
NM_001271.4(CHD2):c.2727+7A>G
|
rs1408693780
|
|
|
NM_001271.4(CHD2):c.2727+9G>A
|
rs1245946446
|
|
|
NM_001271.4(CHD2):c.2728-12del
|
|
|
|
NM_001271.4(CHD2):c.2728-13C>A
|
|
|
|
NM_001271.4(CHD2):c.2728-20A>T
|
|
|
|
NM_001271.4(CHD2):c.2728-8T>C
|
rs762774089
|
|
|
NM_001271.4(CHD2):c.2739C>A (p.Tyr913Ter)
|
|
|
|
NM_001271.4(CHD2):c.2743T>C (p.Leu915=)
|
rs112279925
|
|
|
NM_001271.4(CHD2):c.2749A>G (p.Thr917Ala)
|
rs766507274
|
|
|
NM_001271.4(CHD2):c.274C>T (p.Arg92Trp)
|
|
|
|
NM_001271.4(CHD2):c.2759C>T (p.Thr920Ile)
|
rs2141844210
|
|
|
NM_001271.4(CHD2):c.2765dup (p.Glu923fs)
|
rs1555442886
|
|
|
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer)
|
rs1555442889
|
|
|
NM_001271.4(CHD2):c.2793G>T (p.Lys931Asn)
|
|
|
|
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
|
rs2053946385
|
|
|
NM_001271.4(CHD2):c.2821C>T (p.Gln941Ter)
|
rs2141844243
|
|
|
NM_001271.4(CHD2):c.2825G>C (p.Arg942Pro)
|
rs2141844247
|
|
|
NM_001271.4(CHD2):c.2826_2827insTGGC (p.Met943fs)
|
rs2141844251
|
|
|
NM_001271.4(CHD2):c.2827A>G (p.Met943Val)
|
|
|
|
NM_001271.4(CHD2):c.2847G>A (p.Thr949=)
|
rs756812749
|
|
|
NM_001271.4(CHD2):c.2849_2855del (p.Ile950fs)
|
|
|
|
NM_001271.4(CHD2):c.2856A>T (p.Glu952Asp)
|
rs1388780876
|
|
|
NM_001271.4(CHD2):c.2858A>G (p.Asn953Ser)
|
rs2141844278
|
|
|
NM_001271.4(CHD2):c.2864C>G (p.Ser955Ter)
|
|
|
|
NM_001271.4(CHD2):c.2869A>G (p.Arg957Gly)
|
|
|
|
NM_001271.4(CHD2):c.2871_2876+15dup
|
|
|
|
NM_001271.4(CHD2):c.2876+10A>G
|
rs2053946994
|
|
|
NM_001271.4(CHD2):c.2876+1G>T
|
|
|
|
NM_001271.4(CHD2):c.2876+7G>T
|
rs2141844294
|
|
|
NM_001271.4(CHD2):c.2877-17A>G
|
rs764609850
|
|
|
NM_001271.4(CHD2):c.2877-4A>G
|
|
|
|
NM_001271.4(CHD2):c.2877-5C>T
|
rs1248829265
|
|
|
NM_001271.4(CHD2):c.2877C>T (p.Asn959=)
|
|
|
|
NM_001271.4(CHD2):c.2882del (p.Asn961fs)
|
|
|
|
NM_001271.4(CHD2):c.2884C>A (p.Pro962Thr)
|
|
|
|
NM_001271.4(CHD2):c.2888_2889insAT (p.Phe963fs)
|
rs2141846356
|
|
|
NM_001271.4(CHD2):c.2894A>T (p.Lys965Ile)
|
rs2141846369
|
|
|
NM_001271.4(CHD2):c.2899dup (p.Glu967fs)
|
|
|
|
NM_001271.4(CHD2):c.2906C>T (p.Thr969Ile)
|
rs2053970198
|
|
|
NM_001271.4(CHD2):c.294+19A>G
|
|
|
|
NM_001271.4(CHD2):c.294+20G>A
|
|
|
|
NM_001271.4(CHD2):c.294+3A>G
|
rs2141746246
|
|
|
NM_001271.4(CHD2):c.294+7A>G
|
rs1351696136
|
|
|
NM_001271.4(CHD2):c.2945A>G (p.Glu982Gly)
|
|
|
|
NM_001271.4(CHD2):c.2949G>A (p.Leu983=)
|
|
|
|
NM_001271.4(CHD2):c.295-12_295-11del
|
|
|
|
NM_001271.4(CHD2):c.2955G>C (p.Gly985=)
|
|
|
|
NM_001271.4(CHD2):c.2968C>T (p.Pro990Ser)
|
|
|
|
NM_001271.4(CHD2):c.2973+18_2973+23del
|
|
|
|
NM_001271.4(CHD2):c.2973+8A>T
|
|
|
|
NM_001271.4(CHD2):c.2973+9C>T
|
rs1596431717
|
|
|
NM_001271.4(CHD2):c.2973G>A (p.Gln991=)
|
rs903186613
|
|
|
NM_001271.4(CHD2):c.2974-10G>A
|
|
|
|
NM_001271.4(CHD2):c.2974-3T>C
|
rs778558788
|
|
|
NM_001271.4(CHD2):c.2974-4T>C
|
|
|
|
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
|
rs2053978485
|
|
|
NM_001271.4(CHD2):c.2982T>C (p.Asp994=)
|
rs372974686
|
|
|
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp)
|
rs758134774
|
|
|
NM_001271.4(CHD2):c.3000G>A (p.Arg1000=)
|
|
|
|
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
|
rs1064796496
|
|
|
NM_001271.4(CHD2):c.3021T>C (p.Asn1007=)
|
rs2141847120
|
|
|
NM_001271.4(CHD2):c.3025G>T (p.Val1009Leu)
|
rs1064794528
|
|
|
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala)
|
rs2053978897
|
|
|
NM_001271.4(CHD2):c.3036T>C (p.Ser1012=)
|
rs768946382
|
|
|
NM_001271.4(CHD2):c.3063dup (p.Lys1022Ter)
|
|
|
|
NM_001271.4(CHD2):c.3066+19G>A
|
|
|
|
NM_001271.4(CHD2):c.3066+20A>G
|
rs946119641
|
|
|
NM_001271.4(CHD2):c.3067-10C>G
|
rs2141850547
|
|
|
NM_001271.4(CHD2):c.3078T>C (p.Phe1026=)
|
rs2141850566
|
|
|
NM_001271.4(CHD2):c.3096A>C (p.Glu1032Asp)
|
|
|
|
NM_001271.4(CHD2):c.3096AGA[1] (p.Glu1034del)
|
rs1439253837
|
|
|
NM_001271.4(CHD2):c.30GGA[1] (p.Glu11del)
|
|
|
|
NM_001271.4(CHD2):c.3100G>T (p.Glu1034Ter)
|
rs2141850583
|
|
|
NM_001271.4(CHD2):c.3106G>T (p.Glu1036Ter)
|
|
|
|
NM_001271.4(CHD2):c.3111G>A (p.Glu1037=)
|
rs2141850590
|
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
|
NM_001271.4(CHD2):c.3113G>A (p.Arg1038His)
|
|
|
|
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu)
|
rs150268140
|
|
|
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=)
|
rs150268140
|
|
|
NM_001271.4(CHD2):c.3128G>A (p.Trp1043Ter)
|
|
|
|
NM_001271.4(CHD2):c.3150A>C (p.Glu1050Asp)
|
rs1261637857
|
|
|
NM_001271.4(CHD2):c.3151C>A (p.Gln1051Lys)
|
|
|
|
NM_001271.4(CHD2):c.3153A>G (p.Gln1051=)
|
rs1312097410
|
|
|
NM_001271.4(CHD2):c.3156dup (p.Lys1053fs)
|
|
|
|
NM_001271.4(CHD2):c.3158A>T (p.Lys1053Ile)
|
|
|
|
NM_001271.4(CHD2):c.3165A>G (p.Val1055=)
|
rs758991890
|
|
|
NM_001271.4(CHD2):c.3168G>A (p.Glu1056=)
|
rs1555443360
|
|
|
NM_001271.4(CHD2):c.3168G>T (p.Glu1056Asp)
|
rs1555443360
|
|
|
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs)
|
rs2054015565
|
|
|
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)
|
rs2141850669
|
|
|
NM_001271.4(CHD2):c.3237+19A>G
|
|
|
|
NM_001271.4(CHD2):c.3237+1G>A
|
|
|
|
NM_001271.4(CHD2):c.3237+20G>A
|
|
|
|
NM_001271.4(CHD2):c.3237+5T>G
|
rs1015228436
|
|
|
NM_001271.4(CHD2):c.3238-12G>A
|
rs1276545339
|
|
|
NM_001271.4(CHD2):c.3238-16C>T
|
rs2054030766
|
|
|
NM_001271.4(CHD2):c.3238-5C>G
|
rs1555443468
|
|
|
NM_001271.4(CHD2):c.3238-5C>T
|
rs1555443468
|
|
|
NM_001271.4(CHD2):c.3247A>G (p.Asn1083Asp)
|
|
|
|
NM_001271.4(CHD2):c.3264C>A (p.Asp1088Glu)
|
|
|
|
NM_001271.4(CHD2):c.3264C>T (p.Asp1088=)
|
|
|
|
NM_001271.4(CHD2):c.3265A>C (p.Thr1089Pro)
|
rs1596437938
|
|
|
NM_001271.4(CHD2):c.3275A>G (p.Lys1092Arg)
|
|
|
|
NM_001271.4(CHD2):c.3278G>A (p.Arg1093Lys)
|
rs2054031377
|
|
|
NM_001271.4(CHD2):c.3285C>G (p.Ala1095=)
|
|
|
|
NM_001271.4(CHD2):c.3298G>C (p.Ala1100Pro)
|
|
|
|
NM_001271.4(CHD2):c.3303T>C (p.Ser1101=)
|
|
|
|
NM_001271.4(CHD2):c.3306G>A (p.Glu1102=)
|
|
|
|
NM_001271.4(CHD2):c.3314C>T (p.Thr1105Met)
|
rs1567152717
|
|
|
NM_001271.4(CHD2):c.331C>A (p.Arg111=)
|
rs1040550014
|
|
|
NM_001271.4(CHD2):c.3323_3324del (p.Asp1107_Ser1108insTer)
|
rs2141851983
|
|
|
NM_001271.4(CHD2):c.3333C>T (p.Asp1111=)
|
|
|
|
NM_001271.4(CHD2):c.3338A>G (p.Lys1113Arg)
|
|
|
|
NM_001271.4(CHD2):c.3345G>A (p.Lys1115=)
|
rs2054031847
|
|
|
NM_001271.4(CHD2):c.3349A>T (p.Arg1117Ter)
|
rs777803897
|
|
|
NM_001271.4(CHD2):c.3355_3356del (p.Arg1119fs)
|
rs2141852009
|
|
|
NM_001271.4(CHD2):c.3360G>A (p.Pro1120=)
|
|
|
|
NM_001271.4(CHD2):c.3366T>A (p.Ser1122Arg)
|
|
|
|
NM_001271.4(CHD2):c.3370C>T (p.Arg1124Trp)
|
rs1454060267
|
|
|
NM_001271.4(CHD2):c.3378C>A (p.Asp1126Glu)
|
|
|
|
NM_001271.4(CHD2):c.3381C>T (p.Leu1127=)
|
|
|
|
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
|
rs776091604
|
|
|
NM_001271.4(CHD2):c.3387G>A (p.Glu1129=)
|
|
|
|
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
|
|
|
|
NM_001271.4(CHD2):c.338A>G (p.Asn113Ser)
|
|
|
|
NM_001271.4(CHD2):c.3392T>A (p.Phe1131Tyr)
|
rs2141852043
|
|
|
NM_001271.4(CHD2):c.3401C>G (p.Ala1134Gly)
|
|
|
|
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter)
|
rs773860345
|
|
|
NM_001271.4(CHD2):c.340C>T (p.Arg114Ter)
|
rs1057518128
|
|
|
NM_001271.4(CHD2):c.3412del (p.Arg1138fs)
|
rs2141852057
|
|
|
NM_001271.4(CHD2):c.3413+13T>A
|
|
|
|
NM_001271.4(CHD2):c.3413+16G>T
|
|
|
|
NM_001271.4(CHD2):c.3414-11C>T
|
rs2054119012
|
|
|
NM_001271.4(CHD2):c.3414-20T>C
|
|
|
|
NM_001271.4(CHD2):c.3414-2A>G
|
|
|
|
NM_001271.4(CHD2):c.3414-5C>T
|
|
|
|
NM_001271.4(CHD2):c.3414-5_3414-3del
|
|
|
|
NM_001271.4(CHD2):c.3417C>T (p.Phe1139=)
|
|
|
|
NM_001271.4(CHD2):c.341G>T (p.Arg114Leu)
|
|
|
|
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
|
rs1471418780
|
|
|
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)
|
rs1596443241
|
|
|
NM_001271.4(CHD2):c.3455+11T>C
|
rs2141859897
|
|
|
NM_001271.4(CHD2):c.3455+12G>A
|
|
|
|
NM_001271.4(CHD2):c.3455+4_3455+5del
|
rs2054119330
|
|
|
NM_001271.4(CHD2):c.3455+9A>G
|
rs199958087
|
|
|
NM_001271.4(CHD2):c.3455G>A (p.Arg1152Gln)
|
|
|
|
NM_001271.4(CHD2):c.3456-15T>C
|
|
|
|
NM_001271.4(CHD2):c.3456-19C>G
|
rs780531827
|
|
|
NM_001271.4(CHD2):c.3456-3C>T
|
|
|
|
NM_001271.4(CHD2):c.3456-8C>T
|
rs1394301788
|
|
|
NM_001271.4(CHD2):c.346A>C (p.Arg116=)
|
|
|
|
NM_001271.4(CHD2):c.3471A>G (p.Ala1157=)
|
|
|
|
NM_001271.4(CHD2):c.3472C>T (p.Arg1158Cys)
|
|
|
|
NM_001271.4(CHD2):c.3473G>A (p.Arg1158His)
|
rs2054139096
|
|
|
NM_001271.4(CHD2):c.3476A>T (p.Asp1159Val)
|
rs2141861610
|
|
|
NM_001271.4(CHD2):c.3484C>G (p.Leu1162Val)
|
rs2141861616
|
|
|
NM_001271.4(CHD2):c.3486G>A (p.Leu1162=)
|
rs1229609376
|
|
|
NM_001271.4(CHD2):c.3486G>C (p.Leu1162=)
|
|
|
|
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu)
|
rs1555444210
|
|
|
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
|
|
|
|
NM_001271.4(CHD2):c.3497C>T (p.Ser1166Leu)
|
rs1064794438
|
|
|
NM_001271.4(CHD2):c.3515G>A (p.Arg1172His)
|
rs2054139326
|
|
|
NM_001271.4(CHD2):c.3519G>C (p.Leu1173=)
|
rs377400826
|
|
|
NM_001271.4(CHD2):c.3522T>C (p.Gly1174=)
|
|
|
|
NM_001271.4(CHD2):c.3526C>A (p.Leu1176Met)
|
rs1555444216
|
|
|
NM_001271.4(CHD2):c.3526C>T (p.Leu1176=)
|
|
|
|
NM_001271.4(CHD2):c.3537C>T (p.Asn1179=)
|
|
|
|
NM_001271.4(CHD2):c.3549A>G (p.Ser1183=)
|
|
|
|
NM_001271.4(CHD2):c.3565G>A (p.Glu1189Lys)
|
|
|
|
NM_001271.4(CHD2):c.3576G>A (p.Leu1192=)
|
|
|
|
NM_001271.4(CHD2):c.3579A>G (p.Lys1193=)
|
rs2141861699
|
|
|
NM_001271.4(CHD2):c.3584A>G (p.Asn1195Ser)
|
|
|
|
NM_001271.4(CHD2):c.3587C>G (p.Ala1196Gly)
|
|
|
|
NM_001271.4(CHD2):c.3589A>G (p.Ser1197Gly)
|
|
|
|
NM_001271.4(CHD2):c.3592G>C (p.Glu1198Gln)
|
rs757981280
|
|
|
NM_001271.4(CHD2):c.3595+14G>A
|
|
|
|
NM_001271.4(CHD2):c.3595+18dup
|
rs767906397
|
|
|
NM_001271.4(CHD2):c.3595+6C>T
|
|
|
|
NM_001271.4(CHD2):c.3595+9A>G
|
|
|
|
NM_001271.4(CHD2):c.3596-10T>C
|
|
|
|
NM_001271.4(CHD2):c.3596-10T>G
|
rs1596446956
|
|
|
NM_001271.4(CHD2):c.3596-6T>C
|
|
|
|
NM_001271.4(CHD2):c.359C>T (p.Ser120Leu)
|
|
|
|
NM_001271.4(CHD2):c.3602G>A (p.Gly1201Glu)
|
rs2054196855
|
|
|
NM_001271.4(CHD2):c.3606A>G (p.Pro1202=)
|
rs2054196905
|
|
|
NM_001271.4(CHD2):c.360G>A (p.Ser120=)
|
rs1409764161
|
|
|
NM_001271.4(CHD2):c.3613A>C (p.Arg1205=)
|
|
|
|
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)
|
rs397514740
|
|
|
NM_001271.4(CHD2):c.3628A>G (p.Ile1210Val)
|
|
|
|
NM_001271.4(CHD2):c.3629T>G (p.Ile1210Ser)
|
rs2141867277
|
|
|
NM_001271.4(CHD2):c.362G>T (p.Arg121Leu)
|
rs1064795319
|
|
|
NM_001271.4(CHD2):c.3638_3644delinsAAAATGCACAGAAATGTCATCAAGAGGTTAANNNNNNNNNNATGCATTTCCCCAGTAGATGGGTCCTTGTACACCAAGACTTTTTGTTCGTCTTTGTACCAGAGTTTAGCCAAAG (p.Ser1213_Val1215delinsTer)
|
rs2141867280
|
|
|
NM_001271.4(CHD2):c.3646C>A (p.Gln1216Lys)
|
|
|
|
NM_001271.4(CHD2):c.3646C>G (p.Gln1216Glu)
|
|
|
|
NM_001271.4(CHD2):c.3651del (p.Asn1218fs)
|
|
|
|
NM_001271.4(CHD2):c.3651dup (p.Asn1218Ter)
|
|
|
|
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
|
rs2054197204
|
|
|
NM_001271.4(CHD2):c.366T>G (p.Phe122Leu)
|
|
|
|
NM_001271.4(CHD2):c.3677A>C (p.Glu1226Ala)
|
|
|
|
NM_001271.4(CHD2):c.3679G>A (p.Glu1227Lys)
|
rs150583797
|
|
|
NM_001271.4(CHD2):c.3684G>A (p.Glu1228=)
|
rs766134171
|
|
|
NM_001271.4(CHD2):c.3687T>C (p.Phe1229=)
|
|
|
|
NM_001271.4(CHD2):c.3691A>G (p.Met1231Val)
|
rs1408881628
|
|
|
NM_001271.4(CHD2):c.3697C>T (p.His1233Tyr)
|
rs2054197453
|
|
|
NM_001271.4(CHD2):c.3698A>G (p.His1233Arg)
|
rs2054197477
|
|
|
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)
|
|
|
|
NM_001271.4(CHD2):c.3705T>C (p.Ser1235=)
|
|
|
|
NM_001271.4(CHD2):c.3708C>T (p.Ile1236=)
|
rs2054197617
|
|
|
NM_001271.4(CHD2):c.370A>G (p.Ile124Val)
|
|
|
|
NM_001271.4(CHD2):c.371T>C (p.Ile124Thr)
|
|
|
|
NM_001271.4(CHD2):c.3727A>G (p.Lys1243Glu)
|
|
|
|
NM_001271.4(CHD2):c.3729A>G (p.Lys1243=)
|
rs2054197942
|
|
|
NM_001271.4(CHD2):c.3732A>G (p.Lys1244=)
|
|
|
|
NM_001271.4(CHD2):c.3733A>C (p.Lys1245Gln)
|
rs2054197954
|
|
|
NM_001271.4(CHD2):c.3734+20A>C
|
|
|
|
NM_001271.4(CHD2):c.3734+3G>T
|
|
|
|
NM_001271.4(CHD2):c.3734+9A>G
|
|
|
|
NM_001271.4(CHD2):c.3735-10C>T
|
|
|
|
NM_001271.4(CHD2):c.3735-11A>C
|
|
|
|
NM_001271.4(CHD2):c.3735-18T>C
|
|
|
|
NM_001271.4(CHD2):c.3735-6C>G
|
rs1235843668
|
|
|
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)
|
rs752940775
|
|
|
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
|
rs752940775
|
|
|
NM_001271.4(CHD2):c.3738C>T (p.Tyr1246=)
|
rs2054200384
|
|
|
NM_001271.4(CHD2):c.3746C>T (p.Thr1249Ile)
|
|
|
|
NM_001271.4(CHD2):c.374A>C (p.Lys125Thr)
|
|
|
|
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys)
|
rs2054200484
|
|
|
NM_001271.4(CHD2):c.3752G>A (p.Arg1251His)
|
|
|
|
NM_001271.4(CHD2):c.3759del (p.Ala1254fs)
|
|
|
|
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)
|
rs1555444603
|
|
|
NM_001271.4(CHD2):c.3782G>C (p.Trp1261Ser)
|
|
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
|
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)
|
rs869312877
|
|
|
NM_001271.4(CHD2):c.3801T>C (p.Ser1267=)
|
|
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
|
NM_001271.4(CHD2):c.3805C>T (p.Leu1269=)
|
|
|
|
NM_001271.4(CHD2):c.3807G>A (p.Leu1269=)
|
rs1040196048
|
|
|
NM_001271.4(CHD2):c.3807G>T (p.Leu1269=)
|
rs1040196048
|
|
|
NM_001271.4(CHD2):c.381+11A>T
|
rs2141752541
|
|
|
NM_001271.4(CHD2):c.381+12A>G
|
|
|
|
NM_001271.4(CHD2):c.381+12del
|
rs778998281
|
|
|
NM_001271.4(CHD2):c.381+14G>C
|
|
|
|
NM_001271.4(CHD2):c.381+1G>A
|
rs2053081680
|
|
|
NM_001271.4(CHD2):c.3811C>T (p.Leu1271=)
|
|
|
|
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)
|
rs2141867671
|
|
|
NM_001271.4(CHD2):c.3817A>G (p.Ile1273Val)
|
|
|
|
NM_001271.4(CHD2):c.382-12C>G
|
|
|
|
NM_001271.4(CHD2):c.382-14del
|
|
|
|
NM_001271.4(CHD2):c.382-17C>T
|
|
|
|
NM_001271.4(CHD2):c.382-20T>C
|
rs2141755276
|
|
|
NM_001271.4(CHD2):c.382-6C>A
|
rs756487303
|
|
|
NM_001271.4(CHD2):c.382-9A>C
|
rs1555437848
|
|
|
NM_001271.4(CHD2):c.3821A>T (p.Tyr1274Phe)
|
|
|
|
NM_001271.4(CHD2):c.3829G>A (p.Gly1277Ser)
|
rs1596447174
|
|
|
NM_001271.4(CHD2):c.3830G>C (p.Gly1277Ala)
|
|
|
|
NM_001271.4(CHD2):c.3833A>G (p.Tyr1278Cys)
|
rs1596447179
|
|
|
NM_001271.4(CHD2):c.3857C>T (p.Thr1286Ile)
|
|
|
|
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
|
rs2054201108
|
|
|
NM_001271.4(CHD2):c.3865G>C (p.Glu1289Gln)
|
|
|
|
NM_001271.4(CHD2):c.3867G>C (p.Glu1289Asp)
|
rs1358081390
|
|
|
NM_001271.4(CHD2):c.3876A>T (p.Leu1292Phe)
|
|
|
|
NM_001271.4(CHD2):c.3879T>A (p.Thr1293=)
|
rs2054201169
|
|
|
NM_001271.4(CHD2):c.3885+16A>G
|
|
|
|
NM_001271.4(CHD2):c.3885+4A>G
|
rs1555444612
|
|
|
NM_001271.4(CHD2):c.3885+9C>T
|
|
|
|
NM_001271.4(CHD2):c.3886-10C>T
|
|
|
|
NM_001271.4(CHD2):c.3886-11dup
|
|
|
|
NM_001271.4(CHD2):c.3886-18C>T
|
|
|
|
NM_001271.4(CHD2):c.3886-1G>C
|
|
|
|
NM_001271.4(CHD2):c.3886-9T>C
|
|
|
|
NM_001271.4(CHD2):c.3891G>C (p.Leu1297=)
|
|
|
|
NM_001271.4(CHD2):c.3897G>T (p.Val1299=)
|
rs2141868862
|
|
|
NM_001271.4(CHD2):c.3902C>T (p.Thr1301Ile)
|
|
|
|
NM_001271.4(CHD2):c.3903A>G (p.Thr1301=)
|
rs200766577
|
|
|
NM_001271.4(CHD2):c.3906T>A (p.Asp1302Glu)
|
rs2141868872
|
|
|
NM_001271.4(CHD2):c.390C>T (p.Ser130=)
|
rs1555437851
|
|
|
NM_001271.4(CHD2):c.3913C>G (p.Pro1305Ala)
|
|
|
|
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
|
rs2054212444
|
|
|
NM_001271.4(CHD2):c.3927G>T (p.Gln1309His)
|
rs938005096
|
|
|
NM_001271.4(CHD2):c.392G>A (p.Gly131Glu)
|
|
|
|
NM_001271.4(CHD2):c.3936C>G (p.Thr1312=)
|
|
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
|
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)
|
rs1555444702
|
|
|
NM_001271.4(CHD2):c.3938G>A (p.Arg1313Gln)
|
rs1131692012
|
|
|
NM_001271.4(CHD2):c.3938G>C (p.Arg1313Pro)
|
rs1131692012
|
|
|
NM_001271.4(CHD2):c.3938G>T (p.Arg1313Leu)
|
|
|
|
NM_001271.4(CHD2):c.3941C>T (p.Ala1314Val)
|
|
|
|
NM_001271.4(CHD2):c.3942G>A (p.Ala1314=)
|
|
|
|
NM_001271.4(CHD2):c.3950T>C (p.Leu1317Ser)
|
rs2141868900
|
|
|
NM_001271.4(CHD2):c.3957G>T (p.Lys1319Asn)
|
rs2141868905
|
|
|
NM_001271.4(CHD2):c.3958C>T (p.Leu1320=)
|
rs2141868909
|
|
|
NM_001271.4(CHD2):c.3964A>G (p.Arg1322Gly)
|
rs1555444712
|
|
|
NM_001271.4(CHD2):c.3979AAG[1] (p.Lys1328del)
|
rs1410645881
|
|
|
NM_001271.4(CHD2):c.3981G>T (p.Lys1327Asn)
|
|
|
|
NM_001271.4(CHD2):c.3987_3988dup (p.Ala1330fs)
|
|
|
|
NM_001271.4(CHD2):c.3997G>A (p.Gly1333Ser)
|
|
|
|
NM_001271.4(CHD2):c.4008+10C>A
|
|
|
|
NM_001271.4(CHD2):c.4008+16G>T
|
|
|
|
NM_001271.4(CHD2):c.4008+17C>G
|
rs2141868997
|
|
|
NM_001271.4(CHD2):c.4008+19G>C
|
|
|
|
NM_001271.4(CHD2):c.4008+5G>A
|
rs2141868973
|
|
|
NM_001271.4(CHD2):c.4008+8C>A
|
|
|
|
NM_001271.4(CHD2):c.4008+9G>A
|
|
|
|
NM_001271.4(CHD2):c.4008+9G>C
|
rs369142709
|
|
|
NM_001271.4(CHD2):c.4008+9G>T
|
rs369142709
|
|
|
NM_001271.4(CHD2):c.4009-19A>C
|
rs2141871654
|
|
|
NM_001271.4(CHD2):c.4009-19A>G
|
rs2141871654
|
|
|
NM_001271.4(CHD2):c.4009-2A>G
|
|
|
|
NM_001271.4(CHD2):c.4009-3C>T
|
|
|
|
NM_001271.4(CHD2):c.4009G>A (p.Ala1337Thr)
|
rs776072657
|
|
|
NM_001271.4(CHD2):c.4024C>T (p.Arg1342Trp)
|
|
|
|
NM_001271.4(CHD2):c.4025G>T (p.Arg1342Leu)
|
rs143503275
|
|
|
NM_001271.4(CHD2):c.4025_4026delinsTA (p.Arg1342Leu)
|
rs2141871683
|
|
|
NM_001271.4(CHD2):c.4033C>T (p.Arg1345Trp)
|
rs1273391509
|
|
|
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln)
|
rs751507887
|
|
|
NM_001271.4(CHD2):c.4035G>A (p.Arg1345=)
|
|
|
|
NM_001271.4(CHD2):c.4038A>G (p.Val1346=)
|
|
|
|
NM_001271.4(CHD2):c.4051A>G (p.Lys1351Glu)
|
|
|
|
NM_001271.4(CHD2):c.4067A>G (p.Lys1356Arg)
|
|
|
|
NM_001271.4(CHD2):c.4070A>G (p.Glu1357Gly)
|
rs2141871721
|
|
|
NM_001271.4(CHD2):c.4073A>C (p.Glu1358Ala)
|
rs2141871726
|
|
|
NM_001271.4(CHD2):c.4074G>A (p.Glu1358=)
|
|
|
|
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu)
|
rs1567159136
|
|
|
NM_001271.4(CHD2):c.4084G>C (p.Glu1362Gln)
|
|
|
|
NM_001271.4(CHD2):c.4089T>G (p.Leu1363=)
|
rs2141871747
|
|
|
NM_001271.4(CHD2):c.4095T>C (p.Ser1365=)
|
rs777131411
|
|
|
NM_001271.4(CHD2):c.4096C>T (p.Pro1366Ser)
|
|
|
|
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
|
|
|
|
NM_001271.4(CHD2):c.4099A>C (p.Arg1367=)
|
|
|
|
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala)
|
rs2052525047
|
|
|
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter)
|
rs1567159145
|
|
|
NM_001271.4(CHD2):c.4108G>A (p.Asp1370Asn)
|
rs2054242398
|
|
|
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp)
|
rs745311012
|
|
|
NM_001271.4(CHD2):c.4120G>A (p.Glu1374Lys)
|
|
|
|
NM_001271.4(CHD2):c.4125G>A (p.Glu1375=)
|
rs2054242561
|
|
|
NM_001271.4(CHD2):c.4133T>G (p.Val1378Gly)
|
rs2054242633
|
|
|
NM_001271.4(CHD2):c.4137+11G>C
|
|
|
|
NM_001271.4(CHD2):c.4137+2T>C
|
|
|
|
NM_001271.4(CHD2):c.4138-11T>C
|
|
|
|
NM_001271.4(CHD2):c.4138-18C>T
|
rs775111839
|
|
|
NM_001271.4(CHD2):c.4138-19_4138-18delinsTA
|
rs1555444947
|
|
|
NM_001271.4(CHD2):c.4142A>G (p.Asp1381Gly)
|
rs760717598
|
|
|
NM_001271.4(CHD2):c.4145G>T (p.Gly1382Val)
|
|
|
|
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
|
|
|
|
NM_001271.4(CHD2):c.4165A>G (p.Lys1389Glu)
|
|
|
|
NM_001271.4(CHD2):c.4170_4173del (p.Lys1390fs)
|
rs749969667
|
|
|
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs)
|
rs749969667
|
|
|
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter)
|
rs3210462
|
|
|
NM_001271.4(CHD2):c.4176GAA[2] (p.Lys1395del)
|
|
|
|
NM_001271.4(CHD2):c.4176_4177del (p.Lys1393fs)
|
rs2141873663
|
|
|
NM_001271.4(CHD2):c.4184_4187del (p.Lys1395fs)
|
rs2141873672
|
|
|
NM_001271.4(CHD2):c.4188G>A (p.Glu1396=)
|
|
|
|
NM_001271.4(CHD2):c.4189A>T (p.Asn1397Tyr)
|
|
|
|
NM_001271.4(CHD2):c.4191CAAGGAGAA[1] (p.1397NKE[1])
|
rs779732210
|
|
|
NM_001271.4(CHD2):c.4207A>C (p.Lys1403Gln)
|
|
|
|
NM_001271.4(CHD2):c.4212A>T (p.Gln1404His)
|
|
|
|
NM_001271.4(CHD2):c.4217G>T (p.Ser1406Ile)
|
rs2054266595
|
|
|
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile)
|
rs1567159959
|
|
|
NM_001271.4(CHD2):c.4220C>A (p.Ser1407Tyr)
|
rs780455269
|
|
|
NM_001271.4(CHD2):c.4228G>A (p.Asp1410Asn)
|
rs775901148
|
|
|
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs)
|
rs864309543
|
|
|
NM_001271.4(CHD2):c.4235A>G (p.Glu1412Gly)
|
rs1064795470
|
|
|
NM_001271.4(CHD2):c.4236A>C (p.Glu1412Asp)
|
rs747843766
|
|
|
NM_001271.4(CHD2):c.4238G>A (p.Gly1413Glu)
|
|
|
|
NM_001271.4(CHD2):c.4257G>A (p.Lys1419=)
|
rs1318336358
|
|
|
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
|
rs773012231
|
|
|
NM_001271.4(CHD2):c.4259C>T (p.Ser1420Leu)
|
|
|
|
NM_001271.4(CHD2):c.4260A>C (p.Ser1420=)
|
rs760422132
|
|
|
NM_001271.4(CHD2):c.4260A>G (p.Ser1420=)
|
rs760422132
|
|
|
NM_001271.4(CHD2):c.4261A>G (p.Lys1421Glu)
|
|
|
|
NM_001271.4(CHD2):c.4278+1G>A
|
rs2141873750
|
|
|
NM_001271.4(CHD2):c.4278+20C>G
|
rs762068313
|
|
|
NM_001271.4(CHD2):c.4278+4ATG[3]
|
rs780977518
|
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
|
NM_001271.4(CHD2):c.4278+7A>T
|
rs1000622773
|
|
|
NM_001271.4(CHD2):c.4279-12C>G
|
|
|
|
NM_001271.4(CHD2):c.4279-6dup
|
rs747909672
|
|
|
NM_001271.4(CHD2):c.4279C>G (p.Pro1427Ala)
|
|
|
|
NM_001271.4(CHD2):c.4288G>C (p.Gly1430Arg)
|
rs2054297469
|
|
|
NM_001271.4(CHD2):c.4289G>T (p.Gly1430Val)
|
|
|
|
NM_001271.4(CHD2):c.428G>A (p.Arg143Lys)
|
rs2053117542
|
|
|
NM_001271.4(CHD2):c.4296C>G (p.Ala1432=)
|
rs1596452047
|
|
|
NM_001271.4(CHD2):c.42G>C (p.Ser14=)
|
|
|
|
NM_001271.4(CHD2):c.4304C>T (p.Ser1435Leu)
|
|
|
|
NM_001271.4(CHD2):c.4304del (p.Ser1434_Ser1435insTer)
|
rs2141876515
|
|
|
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
|
|
|
|
NM_001271.4(CHD2):c.4306A>G (p.Ser1436Gly)
|
rs889423529
|
|
|
NM_001271.4(CHD2):c.4310A>C (p.Lys1437Thr)
|
rs1308086750
|
|
|
NM_001271.4(CHD2):c.4318C>T (p.Arg1440Ter)
|
|
|
|
NM_001271.4(CHD2):c.4319G>A (p.Arg1440Gln)
|
|
|
|
NM_001271.4(CHD2):c.4319G>C (p.Arg1440Pro)
|
|
|
|
NM_001271.4(CHD2):c.4343C>T (p.Thr1448Ile)
|
rs2141876540
|
|
|
NM_001271.4(CHD2):c.4371A>T (p.Gly1457=)
|
|
|
|
NM_001271.4(CHD2):c.4413+13A>T
|
|
|
|
NM_001271.4(CHD2):c.4413+15C>G
|
|
|
|
NM_001271.4(CHD2):c.4413+18G>A
|
rs1331622431
|
|
|
NM_001271.4(CHD2):c.4413+19G>C
|
rs376928152
|
|
|
NM_001271.4(CHD2):c.4413+20G>A
|
|
|
|
NM_001271.4(CHD2):c.4413+21del
|
|
|
|
NM_001271.4(CHD2):c.4413+3A>G
|
rs2054298217
|
|
|
NM_001271.4(CHD2):c.4414-14T>C
|
|
|
|
NM_001271.4(CHD2):c.4414-17C>A
|
rs2054359181
|
|
|
NM_001271.4(CHD2):c.4414-19C>G
|
|
|
|
NM_001271.4(CHD2):c.4414-2A>G
|
rs2141881521
|
|
|
NM_001271.4(CHD2):c.443+16G>A
|
|
|
|
NM_001271.4(CHD2):c.443+1G>A
|
rs2141755359
|
|
|
NM_001271.4(CHD2):c.443+20A>G
|
|
|
|
NM_001271.4(CHD2):c.443+3_443+6del
|
rs2141755356
|
|
|
NM_001271.4(CHD2):c.4434C>T (p.Pro1478=)
|
rs199572989
|
|
|
NM_001271.4(CHD2):c.444-4A>C
|
rs369479687
|
|
|
NM_001271.4(CHD2):c.444-4A>G
|
rs369479687
|
|
|
NM_001271.4(CHD2):c.4440A>G (p.Lys1480=)
|
|
|
|
NM_001271.4(CHD2):c.4443G>C (p.Lys1481Asn)
|
|
|
|
NM_001271.4(CHD2):c.4450A>G (p.Lys1484Glu)
|
|
|
|
NM_001271.4(CHD2):c.446A>G (p.Glu149Gly)
|
|
|
|
NM_001271.4(CHD2):c.4470C>T (p.Asp1490=)
|
|
|
|
NM_001271.4(CHD2):c.4476G>A (p.Gly1492=)
|
|
|
|
NM_001271.4(CHD2):c.4489G>A (p.Glu1497Lys)
|
|
|
|
NM_001271.4(CHD2):c.4492C>T (p.Gln1498Ter)
|
|
|
|
NM_001271.4(CHD2):c.4497G>A (p.Leu1499=)
|
|
|
|
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro)
|
rs1060503522
|
|
|
NM_001271.4(CHD2):c.44T>G (p.Leu15Arg)
|
|
|
|
NM_001271.4(CHD2):c.4503C>T (p.His1501=)
|
rs2054360183
|
|
|
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser)
|
rs956620619
|
|
|
NM_001271.4(CHD2):c.4507C>T (p.Arg1503Trp)
|
rs764680752
|
|
|
NM_001271.4(CHD2):c.4511A>G (p.Asn1504Ser)
|
rs2141881607
|
|
|
NM_001271.4(CHD2):c.4513T>C (p.Cys1505Arg)
|
|
|
|
NM_001271.4(CHD2):c.4516C>T (p.Leu1506=)
|
|
|
|
NM_001271.4(CHD2):c.4525del (p.Ile1509fs)
|
|
|
|
NM_001271.4(CHD2):c.4546T>A (p.Cys1516Ser)
|
|
|
|
NM_001271.4(CHD2):c.4555G>A (p.Ala1519Thr)
|
rs1183987736
|
|
|
NM_001271.4(CHD2):c.4557C>G (p.Ala1519=)
|
rs138253997
|
|
|
NM_001271.4(CHD2):c.4560C>T (p.Tyr1520=)
|
rs1596454969
|
|
|
NM_001271.4(CHD2):c.4567C>G (p.Gln1523Glu)
|
rs372786805
|
|
|
NM_001271.4(CHD2):c.456A>G (p.Lys152=)
|
rs2141773450
|
|
|
NM_001271.4(CHD2):c.4573C>G (p.His1525Asp)
|
rs2141881675
|
|
|
NM_001271.4(CHD2):c.4574A>G (p.His1525Arg)
|
rs2141881676
|
|
|
NM_001271.4(CHD2):c.4578C>A (p.Ile1526=)
|
|
|
|
NM_001271.4(CHD2):c.4578C>T (p.Ile1526=)
|
rs143876394
|
|
|
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu)
|
rs755510106
|
|
|
NM_001271.4(CHD2):c.4584C>A (p.Leu1528=)
|
|
|
|
NM_001271.4(CHD2):c.4584C>T (p.Leu1528=)
|
rs543526502
|
|
|
NM_001271.4(CHD2):c.4587G>A (p.Trp1529Ter)
|
rs2141881688
|
|
|
NM_001271.4(CHD2):c.4592+11T>G
|
|
|
|
NM_001271.4(CHD2):c.4592+3A>G
|
|
|
|
NM_001271.4(CHD2):c.4592+4A>G
|
rs1450865656
|
|
|
NM_001271.4(CHD2):c.4592+5C>T
|
|
|
|
NM_001271.4(CHD2):c.4592+7A>C
|
|
|
|
NM_001271.4(CHD2):c.4593-14A>C
|
|
|
|
NM_001271.4(CHD2):c.4593-14A>G
|
|
|
|
NM_001271.4(CHD2):c.4593-3del
|
rs1270315601
|
|
|
NM_001271.4(CHD2):c.4593-4T>G
|
rs2141885411
|
|
|
NM_001271.4(CHD2):c.4598T>G (p.Leu1533Arg)
|
rs2054404153
|
|
|
NM_001271.4(CHD2):c.45A>G (p.Leu15=)
|
rs1009840698
|
|
|
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
|
|
|
|
NM_001271.4(CHD2):c.4612T>G (p.Ser1538Ala)
|
rs2141885429
|
|
|
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
|
rs1596456893
|
|
|
NM_001271.4(CHD2):c.4622C>G (p.Thr1541Arg)
|
rs2141885433
|
|
|
NM_001271.4(CHD2):c.4622C>T (p.Thr1541Ile)
|
rs2141885433
|
|
|
NM_001271.4(CHD2):c.4626A>G (p.Glu1542=)
|
rs2054404334
|
|
|
NM_001271.4(CHD2):c.462A>G (p.Glu154=)
|
|
|
|
NM_001271.4(CHD2):c.4636C>T (p.Arg1546Ter)
|
rs1064796449
|
|
|
NM_001271.4(CHD2):c.463C>A (p.Pro155Thr)
|
|
|
|
NM_001271.4(CHD2):c.4646A>G (p.His1549Arg)
|
rs1428758251
|
|
|
NM_001271.4(CHD2):c.4653A>G (p.Leu1551=)
|
|
|
|
NM_001271.4(CHD2):c.4663G>A (p.Ala1555Thr)
|
rs2054404552
|
|
|
NM_001271.4(CHD2):c.4666C>T (p.His1556Tyr)
|
|
|
|
NM_001271.4(CHD2):c.4667A>G (p.His1556Arg)
|
|
|
|
NM_001271.4(CHD2):c.4672_4676del (p.Lys1558fs)
|
|
|
|
NM_001271.4(CHD2):c.4675A>C (p.Arg1559=)
|
rs2141885460
|
|
|
NM_001271.4(CHD2):c.4692+20del
|
|
|
|
NM_001271.4(CHD2):c.4693-19G>C
|
|
|
|
NM_001271.4(CHD2):c.4716G>T (p.Val1572=)
|
rs2141888143
|
|
|
NM_001271.4(CHD2):c.4719T>G (p.Thr1573=)
|
rs2054436203
|
|
|
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu)
|
rs56227200
|
|
|
NM_001271.4(CHD2):c.4724G>T (p.Gly1575Val)
|
|
|
|
NM_001271.4(CHD2):c.4724dup (p.Gly1575_Lys1576insTer)
|
|
|
|
NM_001271.4(CHD2):c.4727A>G (p.Lys1576Arg)
|
rs2141888165
|
|
|
NM_001271.4(CHD2):c.4728G>A (p.Lys1576=)
|
|
|
|
NM_001271.4(CHD2):c.4745A>G (p.Glu1582Gly)
|
|
|
|
NM_001271.4(CHD2):c.4746G>C (p.Glu1582Asp)
|
rs2141888193
|
|
|
NM_001271.4(CHD2):c.4748C>T (p.Ala1583Val)
|
|
|
|
NM_001271.4(CHD2):c.4749C>T (p.Ala1583=)
|
rs1183396141
|
|
|
NM_001271.4(CHD2):c.4758C>T (p.Ser1586=)
|
|
|
|
NM_001271.4(CHD2):c.4761_4782del (p.Arg1588fs)
|
|
|
|
NM_001271.4(CHD2):c.4763G>A (p.Arg1588Gln)
|
|
|
|
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)
|
rs1555445685
|
|
|
NM_001271.4(CHD2):c.477A>G (p.Glu159=)
|
rs2141773476
|
|
|
NM_001271.4(CHD2):c.4784C>T (p.Ser1595Phe)
|
|
|
|
NM_001271.4(CHD2):c.4787A>G (p.His1596Arg)
|
|
|
|
NM_001271.4(CHD2):c.4789A>G (p.Thr1597Ala)
|
rs1596458216
|
|
|
NM_001271.4(CHD2):c.4793C>A (p.Ser1598Ter)
|
|
|
|
NM_001271.4(CHD2):c.4797C>T (p.His1599=)
|
rs1596458228
|
|
|
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
|
|
|
|
NM_001271.4(CHD2):c.479A>G (p.Gln160Arg)
|
|
|
|
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys)
|
rs1555438837
|
|
|
NM_001271.4(CHD2):c.4822T>C (p.Leu1608=)
|
rs201452886
|
|
|
NM_001271.4(CHD2):c.4840C>A (p.Pro1614Thr)
|
|
|
|
NM_001271.4(CHD2):c.4842A>G (p.Pro1614=)
|
|
|
|
NM_001271.4(CHD2):c.4845G>A (p.Gln1615=)
|
rs1427359303
|
|
|
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His)
|
rs1427359303
|
|
|
NM_001271.4(CHD2):c.4857C>A (p.His1619Gln)
|
|
|
|
NM_001271.4(CHD2):c.4859C>G (p.Pro1620Arg)
|
|
|
|
NM_001271.4(CHD2):c.4866T>C (p.Asp1622=)
|
rs2141888326
|
|
|
NM_001271.4(CHD2):c.486A>G (p.Gln162=)
|
|
|
|
NM_001271.4(CHD2):c.4873A>G (p.Asn1625Asp)
|
|
|
|
NM_001271.4(CHD2):c.4876C>T (p.His1626Tyr)
|
|
|
|
NM_001271.4(CHD2):c.488G>A (p.Gly163Asp)
|
|
|
|
NM_001271.4(CHD2):c.4890A>G (p.Arg1630=)
|
rs1596458291
|
|
|
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
|
rs2054438416
|
|
|
NM_001271.4(CHD2):c.4898G>A (p.Ser1633Asn)
|
rs2054438446
|
|
|
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr)
|
rs1555445701
|
|
|
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
|
rs761860129
|
|
|
NM_001271.4(CHD2):c.4905A>G (p.Ala1635=)
|
rs2054438546
|
|
|
NM_001271.4(CHD2):c.4906+16dup
|
|
|
|
NM_001271.4(CHD2):c.4906+19T>C
|
|
|
|
NM_001271.4(CHD2):c.4906+1G>T
|
rs2141888378
|
|
|
NM_001271.4(CHD2):c.4906+7C>T
|
|
|
|
NM_001271.4(CHD2):c.4907-12_4907-9del
|
rs764356498
|
|
|
NM_001271.4(CHD2):c.4907-13T>A
|
|
|
|
NM_001271.4(CHD2):c.4907-13dup
|
rs1343290835
|
|
|
NM_001271.4(CHD2):c.4907-16C>G
|
|
|
|
NM_001271.4(CHD2):c.4907-7C>T
|
|
|
|
NM_001271.4(CHD2):c.4907A>G (p.Asp1636Gly)
|
|
|
|
NM_001271.4(CHD2):c.4909C>G (p.Arg1637Gly)
|
|
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
|
NM_001271.4(CHD2):c.4915dup (p.Asp1639fs)
|
|
|
|
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
|
rs575697793
|
|
|
NM_001271.4(CHD2):c.4917C>G (p.Asp1639Glu)
|
|
|
|
NM_001271.4(CHD2):c.491C>G (p.Thr164Ser)
|
|
|
|
NM_001271.4(CHD2):c.4921C>T (p.Gln1641Ter)
|
rs864309548
|
|
|
NM_001271.4(CHD2):c.4926G>A (p.Arg1642=)
|
rs2141895125
|
|
|
NM_001271.4(CHD2):c.4932A>T (p.Arg1644Ser)
|
rs1567166830
|
|
|
NM_001271.4(CHD2):c.4934A>G (p.Lys1645Arg)
|
rs751850387
|
|
|
NM_001271.4(CHD2):c.4938C>T (p.Phe1646=)
|
|
|
|
NM_001271.4(CHD2):c.4940A>G (p.Asn1647Ser)
|
|
|
|
NM_001271.4(CHD2):c.4944TGG[2] (p.Gly1651del)
|
rs988975454
|
|
|
NM_001271.4(CHD2):c.4945G>A (p.Gly1649Ser)
|
rs781717447
|
|
|
NM_001271.4(CHD2):c.4949dup (p.Gly1651fs)
|
rs2054514265
|
|
|
NM_001271.4(CHD2):c.4955A>G (p.Asn1652Ser)
|
|
|
|
NM_001271.4(CHD2):c.4956C>G (p.Asn1652Lys)
|
rs200979907
|
|
|
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
|
rs2054514401
|
|
|
NM_001271.4(CHD2):c.4960A>T (p.Asn1654Tyr)
|
rs1437890850
|
|
|
NM_001271.4(CHD2):c.4966C>T (p.Pro1656Ser)
|
|
|
|
NM_001271.4(CHD2):c.4968A>T (p.Pro1656=)
|
|
|
|
NM_001271.4(CHD2):c.4968dup (p.Trp1657fs)
|
rs2054514589
|
|
|
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)
|
rs398122998
|
|
|
NM_001271.4(CHD2):c.4973G>A (p.Gly1658Glu)
|
|
|
|
NM_001271.4(CHD2):c.4987C>T (p.His1663Tyr)
|
rs746965265
|
|
|
NM_001271.4(CHD2):c.4987dup (p.His1663fs)
|
|
|
|
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr)
|
rs142534503
|
|
|
NM_001271.4(CHD2):c.5004C>T (p.His1668=)
|
rs770874614
|
|
|
NM_001271.4(CHD2):c.5010C>T (p.Tyr1670=)
|
rs369883738
|
|
|
NM_001271.4(CHD2):c.5016C>T (p.Asp1672=)
|
|
|
|
NM_001271.4(CHD2):c.5017C>A (p.His1673Asn)
|
rs190569275
|
|
|
NM_001271.4(CHD2):c.5025T>C (p.Tyr1675=)
|
|
|
|
NM_001271.4(CHD2):c.5026G>A (p.Gly1676Arg)
|
rs2141895266
|
|
|
NM_001271.4(CHD2):c.5029dup (p.Asp1677fs)
|
|
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
|
NM_001271.4(CHD2):c.503G>C (p.Ser168Thr)
|
|
|
|
NM_001271.4(CHD2):c.5041_5042del (p.Met1681fs)
|
rs2141895289
|
|
|
NM_001271.4(CHD2):c.5041_5042dup (p.Met1681fs)
|
|
|
|
NM_001271.4(CHD2):c.5048C>T (p.Ala1683Val)
|
|
|
|
NM_001271.4(CHD2):c.5050C>G (p.His1684Asp)
|
|
|
|
NM_001271.4(CHD2):c.5051A>C (p.His1684Pro)
|
rs770784804
|
|
|
NM_001271.4(CHD2):c.5051A>G (p.His1684Arg)
|
rs770784804
|
|
|
NM_001271.4(CHD2):c.5053C>T (p.Arg1685Cys)
|
|
|
|
NM_001271.4(CHD2):c.5057C>G (p.Ser1686Cys)
|
|
|
|
NM_001271.4(CHD2):c.5058C>G (p.Ser1686=)
|
|
|
|
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn)
|
rs1555446342
|
|
|
NM_001271.4(CHD2):c.5066A>G (p.Tyr1689Cys)
|
rs773408940
|
|
|
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter)
|
rs761127171
|
|
|
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
|
rs754463281
|
|
|
NM_001271.4(CHD2):c.5072C>T (p.Pro1691Leu)
|
rs1227123179
|
|
|
NM_001271.4(CHD2):c.5075ACA[1] (p.Asn1693del)
|
rs762235508
|
|
|
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
|
rs764702103
|
|
|
NM_001271.4(CHD2):c.5100T>G (p.Tyr1700Ter)
|
rs751251777
|
|
|
NM_001271.4(CHD2):c.5103C>T (p.Asp1701=)
|
|
|
|
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu)
|
rs1478847821
|
|
|
NM_001271.4(CHD2):c.5109C>T (p.Tyr1703=)
|
rs2141895374
|
|
|
NM_001271.4(CHD2):c.5110A>T (p.Ser1704Cys)
|
|
|
|
NM_001271.4(CHD2):c.5111G>A (p.Ser1704Asn)
|
rs2054516537
|
|
|
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
|
NM_001271.4(CHD2):c.5135A>T (p.His1712Leu)
|
|
|
|
NM_001271.4(CHD2):c.5136C>T (p.His1712=)
|
|
|
|
NM_001271.4(CHD2):c.5136_5137del (p.His1712fs)
|
rs2054516766
|
|
|
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp)
|
rs1555446358
|
|
|
NM_001271.4(CHD2):c.5148T>G (p.Tyr1716Ter)
|
rs773497328
|
|
|
NM_001271.4(CHD2):c.5153+13C>T
|
rs2141895433
|
|
|
NM_001271.4(CHD2):c.5153+15G>A
|
|
|
|
NM_001271.4(CHD2):c.5153+1G>T
|
rs761115271
|
|
|
NM_001271.4(CHD2):c.5153+20A>G
|
|
|
|
NM_001271.4(CHD2):c.5153+8A>G
|
rs1032969529
|
|
|
NM_001271.4(CHD2):c.5154-12T>C
|
rs2141761261
|
|
|
NM_001271.4(CHD2):c.5154-9_5154-8del
|
|
|
|
NM_001271.4(CHD2):c.5154G>A (p.Arg1718=)
|
rs768370702
|
|
|
NM_001271.4(CHD2):c.5163T>C (p.His1721=)
|
|
|
|
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
|
rs1240488615
|
|
|
NM_001271.4(CHD2):c.5185G>A (p.Asp1729Asn)
|
|
|
|
NM_001271.4(CHD2):c.5192T>G (p.Phe1731Cys)
|
|
|
|
NM_001271.4(CHD2):c.5199T>G (p.Pro1733=)
|
|
|
|
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His)
|
rs1009699195
|
|
|
NM_001271.4(CHD2):c.5202A>G (p.Gln1734=)
|
|
|
|
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
|
rs1596463906
|
|
|
NM_001271.4(CHD2):c.5228G>A (p.Arg1743Gln)
|
rs1230076038
|
|
|
NM_001271.4(CHD2):c.522A>G (p.Lys174=)
|
rs573405690
|
|
|
NM_001271.4(CHD2):c.522A>T (p.Lys174Asn)
|
rs573405690
|
|
|
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)
|
rs748694853
|
|
|
NM_001271.4(CHD2):c.5233T>C (p.Ser1745Pro)
|
|
|
|
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
|
rs2054569319
|
|
|
NM_001271.4(CHD2):c.5240A>C (p.His1747Pro)
|
|
|
|
NM_001271.4(CHD2):c.5241C>G (p.His1747Gln)
|
|
|
|
NM_001271.4(CHD2):c.5243G>A (p.Arg1748His)
|
|
|
|
NM_001271.4(CHD2):c.5245C>A (p.Pro1749Thr)
|
|
|
|
NM_001271.4(CHD2):c.5248G>A (p.Ala1750Thr)
|
rs753595749
|
|
|
NM_001271.4(CHD2):c.5249C>T (p.Ala1750Val)
|
|
|
|
NM_001271.4(CHD2):c.5251A>G (p.Met1751Val)
|
|
|
|
NM_001271.4(CHD2):c.5260C>T (p.His1754Tyr)
|
rs1162600592
|
|
|
NM_001271.4(CHD2):c.5274C>T (p.Pro1758=)
|
|
|
|
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly)
|
rs1596463935
|
|
|
NM_001271.4(CHD2):c.5288G>A (p.Arg1763His)
|
|
|
|
NM_001271.4(CHD2):c.5288G>T (p.Arg1763Leu)
|
|
|
|
NM_001271.4(CHD2):c.5291C>T (p.Ser1764Phe)
|
|
|
|
NM_001271.4(CHD2):c.5294del (p.Phe1765fs)
|
|
|
|
NM_001271.4(CHD2):c.5297A>G (p.His1766Arg)
|
|
|
|
NM_001271.4(CHD2):c.5304T>A (p.Asp1768Glu)
|
rs1006801815
|
|
|
NM_001271.4(CHD2):c.5306A>T (p.Lys1769Ile)
|
|
|
|
NM_001271.4(CHD2):c.5324A>C (p.Gln1775Pro)
|
|
|
|
NM_001271.4(CHD2):c.5325G>T (p.Gln1775His)
|
|
|
|
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala)
|
rs371006816
|
|
|
NM_001271.4(CHD2):c.5329C>G (p.Leu1777Val)
|
|
|
|
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
|
rs1596390679
|
|
|
NM_001271.4(CHD2):c.5332C>T (p.Pro1778Ser)
|
|
|
|
NM_001271.4(CHD2):c.5333C>G (p.Pro1778Arg)
|
|
|
|
NM_001271.4(CHD2):c.5335C>T (p.Pro1779Ser)
|
rs374271060
|
|
|
NM_001271.4(CHD2):c.5343C>T (p.His1781=)
|
rs190327730
|
|
|
NM_001271.4(CHD2):c.5344C>T (p.Pro1782Ser)
|
|
|
|
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
|
rs1265214152
|
|
|
NM_001271.4(CHD2):c.5357A>T (p.Asp1786Val)
|
rs2054570777
|
|
|
NM_001271.4(CHD2):c.5359C>A (p.Pro1787Thr)
|
|
|
|
NM_001271.4(CHD2):c.5366C>T (p.Ser1789Leu)
|
rs2054570944
|
|
|
NM_001271.4(CHD2):c.5384CTC[1] (p.Pro1796del)
|
rs757944116
|
|
|
NM_001271.4(CHD2):c.5399A>G (p.Lys1800Arg)
|
rs2054571292
|
|
|
NM_001271.4(CHD2):c.5406C>T (p.Pro1802=)
|
rs1567168673
|
|
|
NM_001271.4(CHD2):c.5413C>T (p.His1805Tyr)
|
rs2141761768
|
|
|
NM_001271.4(CHD2):c.5416A>T (p.Arg1806Trp)
|
rs12906163
|
|
|
NM_001271.4(CHD2):c.5441A>G (p.Glu1814Gly)
|
|
|
|
NM_001271.4(CHD2):c.5443C>A (p.Gln1815Lys)
|
|
|
|
NM_001271.4(CHD2):c.5443_5447del (p.Gln1815fs)
|
|
|
|
NM_001271.4(CHD2):c.5444A>G (p.Gln1815Arg)
|
rs770556699
|
|
|
NM_001271.4(CHD2):c.5454C>T (p.Asn1818=)
|
|
|
|
NM_001271.4(CHD2):c.5456C>G (p.Pro1819Arg)
|
|
|
|
NM_001271.4(CHD2):c.5471A>G (p.Asn1824Ser)
|
|
|
|
NM_001271.4(CHD2):c.5476C>A (p.Arg1826=)
|
rs759398974
|
|
|
NM_001271.4(CHD2):c.5476C>G (p.Arg1826Gly)
|
|
|
|
NM_001271.4(CHD2):c.551+17A>C
|
|
|
|
NM_001271.4(CHD2):c.551+3G>A
|
rs2141773591
|
|
|
NM_001271.4(CHD2):c.551+8G>A
|
|
|
|
NM_001271.4(CHD2):c.552-10C>G
|
|
|
|
NM_001271.4(CHD2):c.552-5T>C
|
rs2141778314
|
|
|
NM_001271.4(CHD2):c.552-9T>C
|
|
|
|
NM_001271.4(CHD2):c.555A>G (p.Thr185=)
|
|
|
|
NM_001271.4(CHD2):c.558G>A (p.Val186=)
|
rs766588440
|
|
|
NM_001271.4(CHD2):c.57A>G (p.Ala19=)
|
rs1412598141
|
|
|
NM_001271.4(CHD2):c.588G>A (p.Lys196=)
|
|
|
|
NM_001271.4(CHD2):c.593A>G (p.Gln198Arg)
|
rs927044414
|
|
|
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser)
|
rs764705223
|
|
|
NM_001271.4(CHD2):c.596G>C (p.Arg199Pro)
|
rs367550855
|
|
|
NM_001271.4(CHD2):c.59C>G (p.Ser20Trp)
|
rs1057524801
|
|
|
NM_001271.4(CHD2):c.59C>T (p.Ser20Leu)
|
rs1057524801
|
|
|
NM_001271.4(CHD2):c.607A>G (p.Lys203Glu)
|
rs2141778395
|
|
|
NM_001271.4(CHD2):c.608A>T (p.Lys203Ile)
|
|
|
|
NM_001271.4(CHD2):c.615A>G (p.Gln205=)
|
|
|
|
NM_001271.4(CHD2):c.616G>C (p.Asp206His)
|
rs2141778412
|
|
|
NM_001271.4(CHD2):c.617A>G (p.Asp206Gly)
|
rs2141778416
|
|
|
NM_001271.4(CHD2):c.617del (p.Asp206fs)
|
|
|
|
NM_001271.4(CHD2):c.62+18_62+21del
|
|
|
|
NM_001271.4(CHD2):c.62+19C>T
|
|
|
|
NM_001271.4(CHD2):c.62+22_62+25del
|
|
|
|
NM_001271.4(CHD2):c.62+3A>G
|
|
|
|
NM_001271.4(CHD2):c.624T>G (p.Ser208=)
|
|
|
|
NM_001271.4(CHD2):c.63-17C>G
|
|
|
|
NM_001271.4(CHD2):c.63-19C>G
|
|
|
|
NM_001271.4(CHD2):c.63-22TC[5]
|
rs749583665
|
|
|
NM_001271.4(CHD2):c.63-5A>G
|
|
|
|
NM_001271.4(CHD2):c.631G>A (p.Asp211Asn)
|
|
|
|
NM_001271.4(CHD2):c.635A>G (p.Asp212Gly)
|
|
|
|
NM_001271.4(CHD2):c.642T>C (p.Asp214=)
|
rs2053325593
|
|
|
NM_001271.4(CHD2):c.645C>G (p.Asp215Glu)
|
|
|
|
NM_001271.4(CHD2):c.648A>G (p.Glu216=)
|
|
|
|
NM_001271.4(CHD2):c.654dup (p.Lys219fs)
|
rs2141778479
|
|
|
NM_001271.4(CHD2):c.669T>G (p.Arg223=)
|
|
|
|
NM_001271.4(CHD2):c.66C>T (p.His22=)
|
rs2141745833
|
|
|
NM_001271.4(CHD2):c.670C>T (p.Arg224Ter)
|
rs2053326002
|
|
|
NM_001271.4(CHD2):c.678G>A (p.Ala226=)
|
|
|
|
NM_001271.4(CHD2):c.678G>T (p.Ala226=)
|
|
|
|
NM_001271.4(CHD2):c.682A>G (p.Lys228Glu)
|
|
|
|
NM_001271.4(CHD2):c.688G>A (p.Val230Ile)
|
rs762370978
|
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
|
NM_001271.4(CHD2):c.692+16G>A
|
rs2141778590
|
|
|
NM_001271.4(CHD2):c.692+1G>C
|
rs1555439036
|
|
|
NM_001271.4(CHD2):c.692+20T>G
|
|
|
|
NM_001271.4(CHD2):c.692+5G>A
|
|
|
|
NM_001271.4(CHD2):c.692+8G>A
|
|
|
|
NM_001271.4(CHD2):c.692G>A (p.Ser231Asn)
|
rs1262732938
|
|
|
NM_001271.4(CHD2):c.693-10C>T
|
rs374771910
|
|
|
NM_001271.4(CHD2):c.693-2A>G
|
rs886039708
|
|
|
NM_001271.4(CHD2):c.693-3C>A
|
rs2141785016
|
|
|
NM_001271.4(CHD2):c.696C>A (p.Tyr232Ter)
|
|
|
|
NM_001271.4(CHD2):c.698A>G (p.Lys233Arg)
|
|
|
|
NM_001271.4(CHD2):c.708T>C (p.Asp236=)
|
|
|
|
NM_001271.4(CHD2):c.709_713dup (p.Phe238fs)
|
|
|
|
NM_001271.4(CHD2):c.720T>A (p.Thr240=)
|
rs762283261
|
|
|
NM_001271.4(CHD2):c.720T>C (p.Thr240=)
|
rs762283261
|
|
|
NM_001271.4(CHD2):c.721G>C (p.Asp241His)
|
rs2141785066
|
|
|
NM_001271.4(CHD2):c.733C>A (p.Leu245Ile)
|
|
|
|
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter)
|
rs1567135138
|
|
|
NM_001271.4(CHD2):c.747_748del (p.Gly250fs)
|
rs2053387971
|
|
|
NM_001271.4(CHD2):c.757G>A (p.Val253Ile)
|
rs2053388088
|
|
|
NM_001271.4(CHD2):c.761A>T (p.Asp254Val)
|
|
|
|
NM_001271.4(CHD2):c.777T>C (p.Asn259=)
|
|
|
|
NM_001271.4(CHD2):c.787A>G (p.Ile263Val)
|
|
|
|
NM_001271.4(CHD2):c.806C>G (p.Ser269Ter)
|
rs2141785162
|
|
|
NM_001271.4(CHD2):c.810A>C (p.Arg270Ser)
|
rs2053388439
|
|
|
NM_001271.4(CHD2):c.813G>A (p.Leu271=)
|
rs907174346
|
|
|
NM_001271.4(CHD2):c.81A>C (p.Glu27Asp)
|
rs2053017198
|
|
|
NM_001271.4(CHD2):c.826+14G>C
|
|
|
|
NM_001271.4(CHD2):c.827-10C>G
|
rs2141787300
|
|
|
NM_001271.4(CHD2):c.827-15T>G
|
|
|
|
NM_001271.4(CHD2):c.846T>C (p.Thr282=)
|
|
|
|
NM_001271.4(CHD2):c.846T>G (p.Thr282=)
|
rs763813072
|
|
|
NM_001271.4(CHD2):c.847G>C (p.Val283Leu)
|
|
|
|
NM_001271.4(CHD2):c.847del (p.Val283fs)
|
|
|
|
NM_001271.4(CHD2):c.849A>T (p.Val283=)
|
|
|
|
NM_001271.4(CHD2):c.855G>C (p.Ala285=)
|
rs138796857
|
|
|
NM_001271.4(CHD2):c.856A>G (p.Ile286Val)
|
rs1457822140
|
|
|
NM_001271.4(CHD2):c.867T>G (p.Asn289Lys)
|
|
|
|
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)
|
rs1555439526
|
|
|
NM_001271.4(CHD2):c.879_883del (p.Ser293fs)
|
rs1060503517
|
|
|
NM_001271.4(CHD2):c.880G>A (p.Gly294Ser)
|
|
|
|
NM_001271.4(CHD2):c.887T>A (p.Phe296Tyr)
|
rs2141787468
|
|
|
NM_001271.4(CHD2):c.88G>A (p.Gly30Ser)
|
|
|
|
NM_001271.4(CHD2):c.892A>G (p.Thr298Ala)
|
|
|
|
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser)
|
rs200687736
|
|
|
NM_001271.4(CHD2):c.930G>A (p.Lys310=)
|
rs1318106648
|
|
|
NM_001271.4(CHD2):c.938_948del (p.Gly313fs)
|
rs2141787520
|
|
|
NM_001271.4(CHD2):c.942G>T (p.Trp314Cys)
|
|
|
|
NM_001271.4(CHD2):c.943T>C (p.Ser315Pro)
|
rs138279266
|
|
|
NM_001271.4(CHD2):c.948C>T (p.Tyr316=)
|
|
|
|
NM_001271.4(CHD2):c.951C>T (p.Ile317=)
|
|
|
|
NM_001271.4(CHD2):c.975del (p.Glu325fs)
|
rs2141787589
|
|
|
NM_001271.4(CHD2):c.978C>G (p.Ser326=)
|
rs2141787594
|
|
|
NM_001271.4(CHD2):c.981A>G (p.Leu327=)
|
|
|
|
NM_001271.4(CHD2):c.998A>T (p.Lys333Met)
|
|
|
|
NM_001271.4(CHD2):c.99A>G (p.Ser33=)
|
|
|
|
NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)
|
|
|
|
NM_001278293.3(ARL6):c.109C>G (p.Leu37Val)
|
rs746549147
|
|
|
NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser)
|
rs1488740103
|
|
|
NM_001278293.3(ARL6):c.123+12T>C
|
|
|
|
NM_001278293.3(ARL6):c.123+19T>C
|
|
|
|
NM_001278293.3(ARL6):c.123+19T>G
|
|
|
|
NM_001278293.3(ARL6):c.123+1G>A
|
|
|
|
NM_001278293.3(ARL6):c.124-13T>G
|
|
|
|
NM_001278293.3(ARL6):c.124-16G>A
|
|
|
|
NM_001278293.3(ARL6):c.124-16G>T
|
|
|
|
NM_001278293.3(ARL6):c.124-17T>C
|
|
|
|
NM_001278293.3(ARL6):c.124-20C>G
|
|
|
|
NM_001278293.3(ARL6):c.126T>G (p.Ala42=)
|
|
|
|
NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)
|
|
|
|
NM_001278293.3(ARL6):c.129A>G (p.Gln43=)
|
|
|
|
NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)
|
rs757995078
|
|
|
NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)
|
|
|
|
NM_001278293.3(ARL6):c.141C>T (p.Ile47=)
|
|
|
|
NM_001278293.3(ARL6):c.143T>A (p.Leu48His)
|
rs895572972
|
|
|
NM_001278293.3(ARL6):c.150A>C (p.Thr50=)
|
|
|
|
NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)
|
|
|
|
NM_001278293.3(ARL6):c.153A>C (p.Ile51=)
|
|
|
|
NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln)
|
rs2108031980
|
|
|
NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys)
|
rs751957701
|
|
|
NM_001278293.3(ARL6):c.185+15C>G
|
|
|
|
NM_001278293.3(ARL6):c.185+15C>T
|
|
|
|
NM_001278293.3(ARL6):c.185+16C>T
|
|
|
|
NM_001278293.3(ARL6):c.185+1G>C
|
rs1559679965
|
|
|
NM_001278293.3(ARL6):c.185+7C>A
|
|
|
|
NM_001278293.3(ARL6):c.186-5T>G
|
|
|
|
NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)
|
|
|
|
NM_001278293.3(ARL6):c.1A>G (p.Met1Val)
|
rs2107977736
|
|
|
NM_001278293.3(ARL6):c.201G>C (p.Val67=)
|
rs2108034087
|
|
|
NM_001278293.3(ARL6):c.207C>T (p.Asp69=)
|
|
|
|
NM_001278293.3(ARL6):c.213A>T (p.Ser71=)
|
|
|
|
NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)
|
|
|
|
NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)
|
|
|
|
NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)
|
|
|
|
NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)
|
rs2037147164
|
|
|
NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)
|
|
|
|
NM_001278293.3(ARL6):c.249T>C (p.Tyr83=)
|
rs888140182
|
|
|
NM_001278293.3(ARL6):c.24A>C (p.Ser8=)
|
|
|
|
NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)
|
|
|
|
NM_001278293.3(ARL6):c.254+12T>A
|
|
|
|
NM_001278293.3(ARL6):c.254+13G>A
|
|
|
|
NM_001278293.3(ARL6):c.254+1G>A
|
|
|
|
NM_001278293.3(ARL6):c.254+7A>G
|
|
|
|
NM_001278293.3(ARL6):c.254+9A>C
|
|
|
|
NM_001278293.3(ARL6):c.255-10C>T
|
|
|
|
NM_001278293.3(ARL6):c.255-15C>A
|
|
|
|
NM_001278293.3(ARL6):c.255-16T>C
|
|
|
|
NM_001278293.3(ARL6):c.255-17T>G
|
|
|
|
NM_001278293.3(ARL6):c.255-1_256del
|
|
|
|
NM_001278293.3(ARL6):c.255-5C>T
|
|
|
|
NM_001278293.3(ARL6):c.255-6A>T
|
|
|
|
NM_001278293.3(ARL6):c.255-7del
|
|
|
|
NM_001278293.3(ARL6):c.255A>G (p.Lys85=)
|
|
|
|
NM_001278293.3(ARL6):c.261C>G (p.Gly87=)
|
|
|
|
NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)
|
|
|
|
NM_001278293.3(ARL6):c.267T>A (p.Ala89=)
|
|
|
|
NM_001278293.3(ARL6):c.28T>C (p.Leu10=)
|
|
|
|
NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)
|
|
|
|
NM_001278293.3(ARL6):c.298T>C (p.Leu100=)
|
|
|
|
NM_001278293.3(ARL6):c.300A>G (p.Leu100=)
|
|
|
|
NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)
|
|
|
|
NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe)
|
rs963216166
|
|
|
NM_001278293.3(ARL6):c.319GAA[1] (p.Glu108del)
|
|
|
|
NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)
|
|
|
|
NM_001278293.3(ARL6):c.327C>T (p.Leu109=)
|
|
|
|
NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn)
|
rs200100002
|
|
|
NM_001278293.3(ARL6):c.330T>C (p.Asp110=)
|
|
|
|
NM_001278293.3(ARL6):c.336T>G (p.Leu112=)
|
|
|
|
NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser)
|
rs2037385151
|
|
|
NM_001278293.3(ARL6):c.348A>G (p.Pro116=)
|
rs2108053948
|
|
|
NM_001278293.3(ARL6):c.349+19G>A
|
|
|
|
NM_001278293.3(ARL6):c.349+4T>C
|
rs1214919112
|
|
|
NM_001278293.3(ARL6):c.349+7G>A
|
|
|
|
NM_001278293.3(ARL6):c.350-13_350-2del
|
rs1576465252
|
|
|
NM_001278293.3(ARL6):c.350-14A>G
|
|
|
|
NM_001278293.3(ARL6):c.350-14_350-12del
|
|
|
|
NM_001278293.3(ARL6):c.350-18T>C
|
|
|
|
NM_001278293.3(ARL6):c.350-20A>G
|
|
|
|
NM_001278293.3(ARL6):c.350-2A>C
|
|
|
|
NM_001278293.3(ARL6):c.350-6T>G
|
|
|
|
NM_001278293.3(ARL6):c.350-7_350-6del
|
|
|
|
NM_001278293.3(ARL6):c.350-8T>C
|
rs2108067599
|
|
|
NM_001278293.3(ARL6):c.350-9C>T
|
|
|
|
NM_001278293.3(ARL6):c.360C>T (p.His120=)
|
|
|
|
NM_001278293.3(ARL6):c.373dup (p.Ile125fs)
|
rs2037541934
|
|
|
NM_001278293.3(ARL6):c.384T>C (p.Phe128=)
|
|
|
|
NM_001278293.3(ARL6):c.386C>T (p.Ala129Val)
|
|
|
|
NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)
|
|
|
|
NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)
|
|
|
|
NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)
|
rs748472414
|
|
|
NM_001278293.3(ARL6):c.414G>C (p.Val138=)
|
|
|
|
NM_001278293.3(ARL6):c.432T>C (p.Ser144=)
|
|
|
|
NM_001278293.3(ARL6):c.438G>A (p.Leu146=)
|
|
|
|
NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu)
|
rs535835888
|
|
|
NM_001278293.3(ARL6):c.468C>A (p.Pro156=)
|
|
|
|
NM_001278293.3(ARL6):c.469del (p.Trp157fs)
|
|
|
|
NM_001278293.3(ARL6):c.474T>C (p.His158=)
|
|
|
|
NM_001278293.3(ARL6):c.479+13A>G
|
|
|
|
NM_001278293.3(ARL6):c.479+14T>C
|
|
|
|
NM_001278293.3(ARL6):c.479+17_479+20del
|
rs759965769
|
|
|
NM_001278293.3(ARL6):c.479+1G>A
|
rs1324418374
|
|
|
NM_001278293.3(ARL6):c.479+4_479+5del
|
rs1285267571
|
|
|
NM_001278293.3(ARL6):c.480-10T>A
|
|
|
|
NM_001278293.3(ARL6):c.480-12A>T
|
|
|
|
NM_001278293.3(ARL6):c.480-13G>A
|
|
|
|
NM_001278293.3(ARL6):c.480-15T>C
|
|
|
|
NM_001278293.3(ARL6):c.480-16A>G
|
|
|
|
NM_001278293.3(ARL6):c.480-20T>C
|
|
|
|
NM_001278293.3(ARL6):c.480-3C>G
|
rs2108084021
|
|
|
NM_001278293.3(ARL6):c.483T>C (p.Ala161=)
|
|
|
|
NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)
|
rs201736026
|
|
|
NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
|
NM_001278293.3(ARL6):c.506del (p.Gly169fs)
|
rs1402463567
|
|
|
NM_001278293.3(ARL6):c.510G>A (p.Leu170=)
|
|
|
|
NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)
|
|
|
|
NM_001278293.3(ARL6):c.524A>C (p.Asp175Ala)
|
rs570080567
|
|
|
NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)
|
|
|
|
NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
|
|
|
|
NM_001278293.3(ARL6):c.535+11A>G
|
rs1186132444
|
|
|
NM_001278293.3(ARL6):c.535+13del
|
|
|
|
NM_001278293.3(ARL6):c.535+16C>A
|
|
|
|
NM_001278293.3(ARL6):c.535+8A>G
|
rs2037753193
|
|
|
NM_001278293.3(ARL6):c.536-15_536-12del
|
|
|
|
NM_001278293.3(ARL6):c.536-8G>A
|
rs748740752
|
|
|
NM_001278293.3(ARL6):c.551_552del (p.Val184fs)
|
rs2038086555
|
|
|
NM_001278293.3(ARL6):c.558A>G (p.Thr186=)
|
|
|
|
NM_001278293.3(ARL6):c.61T>C (p.Leu21=)
|
|
|
|
NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)
|
|
|
|
NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu)
|
rs1282560467
|
|
|
NM_001278293.3(ARL6):c.75A>G (p.Leu25=)
|
|
|
|
NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)
|
|
|
|
NM_001278293.3(ARL6):c.81T>C (p.Asn27=)
|
|
|
|
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)
|
rs104893680
|
|
|
NM_001330540.2(MMACHC):c.-90del
|
|
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
|
NM_001352514.2(HLCS):c.1017T>C (p.Ile339=)
|
|
|
|
NM_001352514.2(HLCS):c.1025dup (p.Tyr342Ter)
|
rs1601803431
|
|
|
NM_001352514.2(HLCS):c.1026T>C (p.Tyr342=)
|
|
|
|
NM_001352514.2(HLCS):c.1029T>C (p.Ile343=)
|
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
|
NM_001352514.2(HLCS):c.1032C>A (p.Leu344=)
|
rs2066910824
|
|
|
NM_001352514.2(HLCS):c.1035C>T (p.Tyr345=)
|
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
|
NM_001352514.2(HLCS):c.1065C>T (p.Asp355=)
|
|
|
|
NM_001352514.2(HLCS):c.1068G>C (p.Pro356=)
|
|
|
|
NM_001352514.2(HLCS):c.1077C>T (p.Asp359=)
|
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1084C>T (p.Leu362=)
|
rs1459880908
|
|
|
NM_001352514.2(HLCS):c.1091T>A (p.Leu364Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1104C>G (p.Thr368=)
|
|
|
|
NM_001352514.2(HLCS):c.1107G>A (p.Arg369=)
|
rs2146525599
|
|
|
NM_001352514.2(HLCS):c.1110G>A (p.Glu370=)
|
|
|
|
NM_001352514.2(HLCS):c.1119C>A (p.Pro373=)
|
|
|
|
NM_001352514.2(HLCS):c.1119C>G (p.Pro373=)
|
rs768927843
|
|
|
NM_001352514.2(HLCS):c.1122A>G (p.Glu374=)
|
rs780469041
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
|
NM_001352514.2(HLCS):c.1126C>T (p.Leu376=)
|
rs1450990152
|
|
|
NM_001352514.2(HLCS):c.1128G>A (p.Leu376=)
|
rs1199413324
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
|
NM_001352514.2(HLCS):c.1134G>A (p.Gln378=)
|
|
|
|
NM_001352514.2(HLCS):c.1137G>A (p.Lys379=)
|
|
|
|
NM_001352514.2(HLCS):c.1140C>T (p.Phe380=)
|
rs2066903072
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
|
NM_001352514.2(HLCS):c.1156C>T (p.Gln386Ter)
|
rs2146525207
|
|
|
NM_001352514.2(HLCS):c.1161A>G (p.Gly387=)
|
|
|
|
NM_001352514.2(HLCS):c.1167G>A (p.Lys389=)
|
rs1057523540
|
|
|
NM_001352514.2(HLCS):c.1182T>C (p.Ser394=)
|
|
|
|
NM_001352514.2(HLCS):c.1185A>G (p.Ser395=)
|
rs979308593
|
|
|
NM_001352514.2(HLCS):c.1185A>T (p.Ser395=)
|
rs979308593
|
|
|
NM_001352514.2(HLCS):c.1194C>G (p.Thr398=)
|
|
|
|
NM_001352514.2(HLCS):c.1197T>C (p.Phe399=)
|
|
|
|
NM_001352514.2(HLCS):c.1210del (p.Gln403_Val404insTer)
|
|
|
|
NM_001352514.2(HLCS):c.1218C>T (p.Ser406=)
|
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
|
NM_001352514.2(HLCS):c.1230G>A (p.Leu410=)
|
|
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
|
NM_001352514.2(HLCS):c.1242C>A (p.Val414=)
|
|
|
|
NM_001352514.2(HLCS):c.1242C>T (p.Val414=)
|
|
|
|
NM_001352514.2(HLCS):c.1249T>C (p.Leu417=)
|
rs535891229
|
|
|
NM_001352514.2(HLCS):c.1257C>T (p.Phe419=)
|
rs757706257
|
|
|
NM_001352514.2(HLCS):c.1260C>T (p.Ser420=)
|
rs2146524449
|
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1266T>C (p.Ala422=)
|
rs2146524399
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
|
NM_001352514.2(HLCS):c.1323C>A (p.Gly441=)
|
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1326C>A (p.Pro442=)
|
|
|
|
NM_001352514.2(HLCS):c.1330C>A (p.Arg444=)
|
rs139902499
|
|
|
NM_001352514.2(HLCS):c.1332G>C (p.Arg444=)
|
rs2146523893
|
|
|
NM_001352514.2(HLCS):c.1332G>T (p.Arg444=)
|
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
|
NM_001352514.2(HLCS):c.1359C>T (p.His453=)
|
|
|
|
NM_001352514.2(HLCS):c.1374C>T (p.Asp458=)
|
rs771883068
|
|
|
NM_001352514.2(HLCS):c.1392G>C (p.Val464=)
|
|
|
|
NM_001352514.2(HLCS):c.1413C>A (p.Arg471=)
|
rs533602689
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
|
NM_001352514.2(HLCS):c.1419A>G (p.Gly473=)
|
|
|
|
NM_001352514.2(HLCS):c.1425T>G (p.Ala475=)
|
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
|
NM_001352514.2(HLCS):c.1437+10G>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+13G>T
|
|
|
|
NM_001352514.2(HLCS):c.1437+14C>T
|
|
|
|
NM_001352514.2(HLCS):c.1437+15A>G
|
|
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+20T>A
|
|
|
|
NM_001352514.2(HLCS):c.1437+8G>A
|
rs777565665
|
|
|
NM_001352514.2(HLCS):c.1438-17C>T
|
|
|
|
NM_001352514.2(HLCS):c.1438-6C>T
|
|
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
|
NM_001352514.2(HLCS):c.1444_1456delinsATAGTGCAAACTCCAACATAGTGCAAACT (p.Leu482_Pro486delinsIleValGlnThrProThrTer)
|
|
|
|
NM_001352514.2(HLCS):c.1445dup (p.Leu482fs)
|
|
|
|
NM_001352514.2(HLCS):c.1450C>T (p.Leu484=)
|
|
|
|
NM_001352514.2(HLCS):c.1452A>C (p.Leu484=)
|
|
|
|
NM_001352514.2(HLCS):c.1458C>T (p.Pro486=)
|
|
|
|
NM_001352514.2(HLCS):c.1467C>T (p.Asn489=)
|
|
|
|
NM_001352514.2(HLCS):c.1471del (p.Val491fs)
|
|
|
|
NM_001352514.2(HLCS):c.1473G>T (p.Val491=)
|
rs367611748
|
|
|
NM_001352514.2(HLCS):c.1482A>G (p.Pro494=)
|
rs2066584824
|
|
|
NM_001352514.2(HLCS):c.1494dup (p.Leu500fs)
|
|
|
|
NM_001352514.2(HLCS):c.1496T>A (p.Leu499Ter)
|
rs1601779091
|
|
|
NM_001352514.2(HLCS):c.1505C>G (p.Ser502Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1509C>T (p.Ser503=)
|
|
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1537_1540del (p.Glu513fs)
|
|
|
|
NM_001352514.2(HLCS):c.1543del (p.Ile514_Leu515insTer)
|
rs1288789420
|
|
|
NM_001352514.2(HLCS):c.1551C>A (p.Thr517=)
|
rs138442090
|
|
|
NM_001352514.2(HLCS):c.1551C>G (p.Thr517=)
|
|
|
|
NM_001352514.2(HLCS):c.1551C>T (p.Thr517=)
|
|
|
|
NM_001352514.2(HLCS):c.1552del (p.Gly519fs)
|
rs1569206815
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
|
NM_001352514.2(HLCS):c.1581T>G (p.Val527=)
|
|
|
|
NM_001352514.2(HLCS):c.1599_1600del (p.Tyr534fs)
|
|
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
|
NM_001352514.2(HLCS):c.1608G>A (p.Leu536=)
|
|
|
|
NM_001352514.2(HLCS):c.1608G>T (p.Leu536=)
|
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1620+15C>G
|
|
|
|
NM_001352514.2(HLCS):c.1620+17G>A
|
|
|
|
NM_001352514.2(HLCS):c.1620+7T>G
|
|
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
|
NM_001352514.2(HLCS):c.1620+8G>A
|
rs1569206652
|
|
|
NM_001352514.2(HLCS):c.1620+9T>G
|
rs2146492738
|
|
|
NM_001352514.2(HLCS):c.1620+9del
|
|
|
|
NM_001352514.2(HLCS):c.1621-11T>C
|
|
|
|
NM_001352514.2(HLCS):c.1621-13_1621-10del
|
rs377641674
|
|
|
NM_001352514.2(HLCS):c.1621-19T>A
|
|
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
|
NM_001352514.2(HLCS):c.1621-8T>C
|
|
|
|
NM_001352514.2(HLCS):c.1627A>C (p.Arg543=)
|
rs2146336527
|
|
|
NM_001352514.2(HLCS):c.1627_1628del (p.Arg543fs)
|
rs2146336516
|
|
|
NM_001352514.2(HLCS):c.1629G>A (p.Arg543=)
|
rs1344897387
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
|
NM_001352514.2(HLCS):c.1631dup (p.Asp544fs)
|
|
|
|
NM_001352514.2(HLCS):c.1632T>C (p.Asp544=)
|
rs2146336458
|
|
|
NM_001352514.2(HLCS):c.1634del (p.Pro545fs)
|
rs2146336447
|
|
|
NM_001352514.2(HLCS):c.1635T>G (p.Pro545=)
|
rs2146336432
|
|
|
NM_001352514.2(HLCS):c.1644G>A (p.Gln548=)
|
rs1366041798
|
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
|
NM_001352514.2(HLCS):c.1659T>C (p.His553=)
|
|
|
|
NM_001352514.2(HLCS):c.1665C>T (p.Asp555=)
|
|
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1668C>T (p.Ser556=)
|
rs771923409
|
|
|
NM_001352514.2(HLCS):c.1683A>G (p.Lys561=)
|
rs2146336131
|
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
|
NM_001352514.2(HLCS):c.1686C>T (p.Ser562=)
|
rs141905941
|
|
|
NM_001352514.2(HLCS):c.1689C>A (p.Gly563=)
|
|
|
|
NM_001352514.2(HLCS):c.1695C>G (p.Leu565=)
|
rs138209330
|
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1698T>G (p.Ser566=)
|
rs2146335962
|
|
|
NM_001352514.2(HLCS):c.1698_1701del (p.Leu567fs)
|
rs2065041493
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
|
NM_001352514.2(HLCS):c.1722G>A (p.Val574=)
|
|
|
|
NM_001352514.2(HLCS):c.1740C>G (p.Thr580=)
|
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1743A>G (p.Pro581=)
|
|
|
|
NM_001352514.2(HLCS):c.1764C>G (p.Thr588=)
|
rs2146335640
|
|
|
NM_001352514.2(HLCS):c.1767C>T (p.Asn589=)
|
|
|
|
NM_001352514.2(HLCS):c.1769dup (p.Met590fs)
|
|
|
|
NM_001352514.2(HLCS):c.1773G>A (p.Glu591=)
|
rs771694153
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
|
NM_001352514.2(HLCS):c.1782A>C (p.Ser594=)
|
|
|
|
NM_001352514.2(HLCS):c.1794C>T (p.Phe598=)
|
rs1601665712
|
|
|
NM_001352514.2(HLCS):c.1797C>T (p.Asn599=)
|
rs2146335404
|
|
|
NM_001352514.2(HLCS):c.1799T>G (p.Leu600Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1800A>G (p.Leu600=)
|
|
|
|
NM_001352514.2(HLCS):c.1806C>T (p.Ile602=)
|
rs1240730503
|
|
|
NM_001352514.2(HLCS):c.1812C>T (p.Arg604=)
|
|
|
|
NM_001352514.2(HLCS):c.1819C>T (p.Leu607=)
|
|
|
|
NM_001352514.2(HLCS):c.1827C>T (p.Thr609=)
|
|
|
|
NM_001352514.2(HLCS):c.1830G>A (p.Lys610=)
|
|
|
|
NM_001352514.2(HLCS):c.1831C>T (p.Gln611Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1833G>A (p.Gln611=)
|
|
|
|
NM_001352514.2(HLCS):c.1834T>C (p.Leu612=)
|
|
|
|
NM_001352514.2(HLCS):c.1851G>A (p.Leu617=)
|
rs760230537
|
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
|
NM_001352514.2(HLCS):c.1857C>T (p.Ala619=)
|
rs759178651
|
|
|
NM_001352514.2(HLCS):c.1866C>G (p.Thr622=)
|
rs2146334911
|
|
|
NM_001352514.2(HLCS):c.1869C>G (p.Pro623=)
|
rs769822408
|
|
|
NM_001352514.2(HLCS):c.1869C>T (p.Pro623=)
|
rs769822408
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
|
NM_001352514.2(HLCS):c.1881T>C (p.Arg627=)
|
rs2146334744
|
|
|
NM_001352514.2(HLCS):c.1884C>T (p.Leu628=)
|
|
|
|
NM_001352514.2(HLCS):c.1885C>T (p.Leu629=)
|
|
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
|
NM_001352514.2(HLCS):c.1892+8G>T
|
rs2065029914
|
|
|
NM_001352514.2(HLCS):c.1893-11C>G
|
|
|
|
NM_001352514.2(HLCS):c.1893-14C>T
|
|
|
|
NM_001352514.2(HLCS):c.1893-22_1893-14dup
|
|
|
|
NM_001352514.2(HLCS):c.1893-5G>C
|
|
|
|
NM_001352514.2(HLCS):c.1894C>T (p.Leu632=)
|
|
|
|
NM_001352514.2(HLCS):c.1896G>A (p.Leu632=)
|
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
|
NM_001352514.2(HLCS):c.1910del (p.Pro637fs)
|
|
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
|
NM_001352514.2(HLCS):c.1938G>C (p.Ala646=)
|
rs370347318
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
|
NM_001352514.2(HLCS):c.1947G>A (p.Gln649=)
|
rs1031377645
|
|
|
NM_001352514.2(HLCS):c.1950C>A (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1950C>G (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1950C>T (p.Thr650=)
|
rs201813658
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
|
NM_001352514.2(HLCS):c.1956C>A (p.Gly652=)
|
|
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
|
NM_001352514.2(HLCS):c.1960+7C>T
|
|
|
|
NM_001352514.2(HLCS):c.1960+8A>G
|
rs2145776793
|
|
|
NM_001352514.2(HLCS):c.1960+8A>T
|
|
|
|
NM_001352514.2(HLCS):c.1960+9T>C
|
|
|
|
NM_001352514.2(HLCS):c.1961-12C>A
|
|
|
|
NM_001352514.2(HLCS):c.1961-12C>T
|
|
|
|
NM_001352514.2(HLCS):c.1962A>G (p.Gly654=)
|
rs757169763
|
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
|
NM_001352514.2(HLCS):c.1980G>A (p.Trp660Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1983G>C (p.Leu661=)
|
|
|
|
NM_001352514.2(HLCS):c.1989T>C (p.Pro663=)
|
rs1601141038
|
|
|
NM_001352514.2(HLCS):c.2029C>T (p.Leu677=)
|
|
|
|
NM_001352514.2(HLCS):c.2030del (p.Leu677fs)
|
|
|
|
NM_001352514.2(HLCS):c.2037C>A (p.Ser679=)
|
rs2145768209
|
|
|
NM_001352514.2(HLCS):c.2038C>T (p.Gln680Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2040G>A (p.Gln680=)
|
|
|
|
NM_001352514.2(HLCS):c.2041C>T (p.Leu681=)
|
rs2145768179
|
|
|
NM_001352514.2(HLCS):c.2041dup (p.Leu681fs)
|
|
|
|
NM_001352514.2(HLCS):c.2046A>G (p.Gly682=)
|
|
|
|
NM_001352514.2(HLCS):c.2049G>A (p.Gln683=)
|
|
|
|
NM_001352514.2(HLCS):c.2055C>A (p.Ile685=)
|
|
|
|
NM_001352514.2(HLCS):c.2055C>T (p.Ile685=)
|
rs1568975308
|
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2060_2081del (p.Phe687fs)
|
|
|
|
NM_001352514.2(HLCS):c.2064C>T (p.Val688=)
|
|
|
|
NM_001352514.2(HLCS):c.2067G>A (p.Gln689=)
|
rs2089984668
|
|
|
NM_001352514.2(HLCS):c.2073G>A (p.Leu691=)
|
rs755088995
|
|
|
NM_001352514.2(HLCS):c.2079C>T (p.Ser693=)
|
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2088C>A (p.Val696=)
|
|
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
|
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)
|
rs773627772
|
|
|
NM_001352514.2(HLCS):c.2112C>G (p.Pro704=)
|
rs762221640
|
|
|
NM_001352514.2(HLCS):c.2112C>T (p.Pro704=)
|
rs762221640
|
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
|
NM_001352514.2(HLCS):c.2121+10G>A
|
rs2145767655
|
|
|
NM_001352514.2(HLCS):c.2121+14A>G
|
|
|
|
NM_001352514.2(HLCS):c.2121+16T>C
|
|
|
|
NM_001352514.2(HLCS):c.2121+8C>A
|
rs2089982138
|
|
|
NM_001352514.2(HLCS):c.2121+8C>T
|
rs2089982138
|
|
|
NM_001352514.2(HLCS):c.2121+9A>G
|
|
|
|
NM_001352514.2(HLCS):c.2122-13G>A
|
|
|
|
NM_001352514.2(HLCS):c.2122-19T>C
|
|
|
|
NM_001352514.2(HLCS):c.2122-6C>T
|
rs764724435
|
|
|
NM_001352514.2(HLCS):c.2128_2135delinsTAAAGGGTGA (p.Asn710_Arg712delinsTer)
|
|
|
|
NM_001352514.2(HLCS):c.2134C>A (p.Arg712=)
|
|
|
|
NM_001352514.2(HLCS):c.2176A>T (p.Lys726Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2181C>A (p.Ile727=)
|
rs375456567
|
|
|
NM_001352514.2(HLCS):c.2184C>G (p.Gly728=)
|
|
|
|
NM_001352514.2(HLCS):c.2190T>C (p.Val730=)
|
rs2089756578
|
|
|
NM_001352514.2(HLCS):c.2196T>A (p.Val732=)
|
rs2145744309
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
|
NM_001352514.2(HLCS):c.2205A>C (p.Thr735=)
|
rs2145744246
|
|
|
NM_001352514.2(HLCS):c.2205A>G (p.Thr735=)
|
|
|
|
NM_001352514.2(HLCS):c.2205A>T (p.Thr735=)
|
|
|
|
NM_001352514.2(HLCS):c.2208C>G (p.Leu736=)
|
rs764487201
|
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
|
NM_001352514.2(HLCS):c.2212_2213del (p.Gly738fs)
|
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
|
NM_001352514.2(HLCS):c.2220A>G (p.Thr740=)
|
rs2145744147
|
|
|
NM_001352514.2(HLCS):c.2224del (p.Tyr742fs)
|
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2236+13A>T
|
|
|
|
NM_001352514.2(HLCS):c.2236+16C>T
|
|
|
|
NM_001352514.2(HLCS):c.2236+17T>C
|
|
|
|
NM_001352514.2(HLCS):c.2236+20C>A
|
|
|
|
NM_001352514.2(HLCS):c.2237-19A>G
|
|
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
|
NM_001352514.2(HLCS):c.2237-6G>A
|
rs201208730
|
|
|
NM_001352514.2(HLCS):c.2237-7dup
|
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
|
NM_001352514.2(HLCS):c.2247T>C (p.Phe749=)
|
rs2145732165
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
|
NM_001352514.2(HLCS):c.2259C>T (p.Asn753=)
|
rs760492059
|
|
|
NM_001352514.2(HLCS):c.2262T>C (p.Ser754=)
|
|
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
|
NM_001352514.2(HLCS):c.2268T>C (p.Pro756=)
|
rs2145731986
|
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
|
NM_001352514.2(HLCS):c.2289C>T (p.Leu763=)
|
|
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
|
NM_001352514.2(HLCS):c.2295A>G (p.Thr765=)
|
|
|
|
NM_001352514.2(HLCS):c.2298A>G (p.Glu766=)
|
|
|
|
NM_001352514.2(HLCS):c.2301C>G (p.Tyr767Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2308C>T (p.Gln770Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2313C>T (p.His771=)
|
rs1376040224
|
|
|
NM_001352514.2(HLCS):c.2328G>A (p.Lys776=)
|
|
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
|
NM_001352514.2(HLCS):c.2331C>T (p.Pro777=)
|
rs2123576595
|
|
|
NM_001352514.2(HLCS):c.2333T>G (p.Leu778Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2334A>G (p.Leu778=)
|
rs2123576546
|
|
|
NM_001352514.2(HLCS):c.2337A>G (p.Arg779=)
|
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
|
NM_001352514.2(HLCS):c.2361C>G (p.Val787=)
|
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
|
NM_001352514.2(HLCS):c.2369_2373del (p.Val790fs)
|
|
|
|
NM_001352514.2(HLCS):c.2370G>C (p.Val790=)
|
|
|
|
NM_001352514.2(HLCS):c.2373G>T (p.Leu791=)
|
|
|
|
NM_001352514.2(HLCS):c.2385C>T (p.Ile795=)
|
rs747302103
|
|
|
NM_001352514.2(HLCS):c.2388A>G (p.Lys796=)
|
rs2123575791
|
|
|
NM_001352514.2(HLCS):c.2397G>A (p.Gln799=)
|
rs2123575709
|
|
|
NM_001352514.2(HLCS):c.2403A>G (p.Lys801=)
|
|
|
|
NM_001352514.2(HLCS):c.2406G>A (p.Gly802=)
|
|
|
|
NM_001352514.2(HLCS):c.2409C>G (p.Pro803=)
|
rs763530346
|
|
|
NM_001352514.2(HLCS):c.2409C>T (p.Pro803=)
|
|
|
|
NM_001352514.2(HLCS):c.2412C>T (p.Asn804=)
|
rs2089605319
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
|
NM_001352514.2(HLCS):c.2421T>C (p.Leu807=)
|
rs766430268
|
|
|
NM_001352514.2(HLCS):c.2424C>G (p.Pro808=)
|
rs762915830
|
|
|
NM_001352514.2(HLCS):c.2424C>T (p.Pro808=)
|
rs762915830
|
|
|
NM_001352514.2(HLCS):c.2433C>T (p.Tyr811=)
|
|
|
|
NM_001352514.2(HLCS):c.2436A>G (p.Arg812=)
|
|
|
|
NM_001352514.2(HLCS):c.2439C>G (p.Tyr813Ter)
|
|
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
|
NM_001352514.2(HLCS):c.2450+20C>T
|
rs2123574898
|
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
|
NM_001352514.2(HLCS):c.2450+8C>T
|
rs2123575052
|
|
|
NM_001352514.2(HLCS):c.2450+9T>C
|
|
|
|
NM_001352514.2(HLCS):c.2451-13T>C
|
rs2123556883
|
|
|
NM_001352514.2(HLCS):c.2451-15G>C
|
|
|
|
NM_001352514.2(HLCS):c.2451-18G>A
|
|
|
|
NM_001352514.2(HLCS):c.2451-19C>A
|
|
|
|
NM_001352514.2(HLCS):c.2451-19C>G
|
|
|
|
NM_001352514.2(HLCS):c.2451-4del
|
|
|
|
NM_001352514.2(HLCS):c.2451-8C>T
|
rs373177254
|
|
|
NM_001352514.2(HLCS):c.2458del (p.Gln820fs)
|
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
|
NM_001352514.2(HLCS):c.2466T>C (p.His822=)
|
|
|
|
NM_001352514.2(HLCS):c.2467C>T (p.Leu823=)
|
rs2123556668
|
|
|
NM_001352514.2(HLCS):c.2475C>T (p.Ser825=)
|
rs2089478015
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
|
NM_001352514.2(HLCS):c.2487A>G (p.Pro829=)
|
rs2123556491
|
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2496C>A (p.Ser832=)
|
|
|
|
NM_001352514.2(HLCS):c.2499C>T (p.Ile833=)
|
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
|
NM_001352514.2(HLCS):c.2526C>G (p.Leu842=)
|
rs147256659
|
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
|
NM_001352514.2(HLCS):c.2547C>G (p.Gly849=)
|
rs768097284
|
|
|
NM_001352514.2(HLCS):c.2547C>T (p.Gly849=)
|
|
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
|
NM_001352514.2(HLCS):c.2565C>T (p.His855=)
|
|
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
|
NM_001352514.2(HLCS):c.2580C>T (p.Ser860=)
|
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
|
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
|
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2614C>A (p.Arg872=)
|
|
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
|
NM_001352514.2(HLCS):c.471A>C (p.Gly157=)
|
rs2146535946
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
|
NM_001352514.2(HLCS):c.493+10T>C
|
rs1601811088
|
|
|
NM_001352514.2(HLCS):c.493+12T>C
|
|
|
|
NM_001352514.2(HLCS):c.493+15A>G
|
|
|
|
NM_001352514.2(HLCS):c.493+18A>C
|
|
|
|
NM_001352514.2(HLCS):c.493+20G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-17T>A
|
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-25TC[3]
|
|
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
|
NM_001352514.2(HLCS):c.494-25TC[6]
|
rs146532042
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
|
NM_001352514.2(HLCS):c.494-7G>A
|
|
|
|
NM_001352514.2(HLCS):c.494-7G>C
|
rs1437015433
|
|
|
NM_001352514.2(HLCS):c.494-8T>C
|
rs778287214
|
|
|
NM_001352514.2(HLCS):c.494-9A>T
|
|
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
|
NM_001352514.2(HLCS):c.504G>A (p.Leu168=)
|
rs2066944309
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
|
NM_001352514.2(HLCS):c.505C>T (p.Gln169Ter)
|
|
|
|
NM_001352514.2(HLCS):c.507G>A (p.Gln169=)
|
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
|
NM_001352514.2(HLCS):c.516T>C (p.Thr172=)
|
rs752570659
|
|
|
NM_001352514.2(HLCS):c.517C>T (p.Leu173=)
|
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
|
NM_001352514.2(HLCS):c.535C>T (p.Gln179Ter)
|
rs2066942649
|
|
|
NM_001352514.2(HLCS):c.537G>A (p.Gln179=)
|
rs2146529501
|
|
|
NM_001352514.2(HLCS):c.546C>T (p.Asn182=)
|
|
|
|
NM_001352514.2(HLCS):c.555C>T (p.Ala185=)
|
|
|
|
NM_001352514.2(HLCS):c.567G>A (p.Glu189=)
|
rs61732504
|
|
|
NM_001352514.2(HLCS):c.570G>T (p.Pro190=)
|
|
|
|
NM_001352514.2(HLCS):c.579A>G (p.Glu193=)
|
rs2146529125
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
|
NM_001352514.2(HLCS):c.582T>G (p.Pro194=)
|
|
|
|
NM_001352514.2(HLCS):c.585T>A (p.Ser195=)
|
|
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
|
NM_001352514.2(HLCS):c.597G>A (p.Lys199=)
|
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
|
NM_001352514.2(HLCS):c.600T>C (p.Pro200=)
|
rs2066937541
|
|
|
NM_001352514.2(HLCS):c.606G>A (p.Gln202=)
|
|
|
|
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
|
|
|
|
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
|
|
|
|
NM_001352514.2(HLCS):c.655G>T (p.Glu219Ter)
|
|
|
|
NM_001352514.2(HLCS):c.664C>T (p.Gln222Ter)
|
rs1555957134
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
|
NM_001352514.2(HLCS):c.678T>C (p.Ser226=)
|
rs2146528574
|
|
|
NM_001352514.2(HLCS):c.684T>G (p.Ser228=)
|
rs2146528551
|
|
|
NM_001352514.2(HLCS):c.687G>C (p.Gly229=)
|
rs2146528539
|
|
|
NM_001352514.2(HLCS):c.691G>T (p.Glu231Ter)
|
rs1569218416
|
|
|
NM_001352514.2(HLCS):c.702G>A (p.Gly234=)
|
rs373193883
|
|
|
NM_001352514.2(HLCS):c.711C>T (p.Asp237=)
|
rs754558925
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
|
NM_001352514.2(HLCS):c.727del (p.Val243fs)
|
rs2146528200
|
|
|
NM_001352514.2(HLCS):c.732G>A (p.Glu244=)
|
|
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
|
NM_001352514.2(HLCS):c.741C>T (p.His247=)
|
rs761937078
|
|
|
NM_001352514.2(HLCS):c.759C>T (p.Cys253=)
|
rs751148714
|
|
|
NM_001352514.2(HLCS):c.763G>T (p.Glu255Ter)
|
rs937407062
|
|
|
NM_001352514.2(HLCS):c.765G>A (p.Glu255=)
|
|
|
|
NM_001352514.2(HLCS):c.783C>T (p.Asn261=)
|
rs1601805290
|
|
|
NM_001352514.2(HLCS):c.792T>C (p.Ile264=)
|
rs775055913
|
|
|
NM_001352514.2(HLCS):c.804G>A (p.Lys268=)
|
rs1228716242
|
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
|
NM_001352514.2(HLCS):c.810G>T (p.Ala270=)
|
|
|
|
NM_001352514.2(HLCS):c.816C>G (p.Ala272=)
|
rs376665169
|
|
|
NM_001352514.2(HLCS):c.828A>G (p.Pro276=)
|
rs2066924267
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
|
NM_001352514.2(HLCS):c.834T>C (p.Leu278=)
|
rs2146527642
|
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
|
NM_001352514.2(HLCS):c.873T>C (p.Asp291=)
|
|
|
|
NM_001352514.2(HLCS):c.879C>T (p.Thr293=)
|
|
|
|
NM_001352514.2(HLCS):c.882C>T (p.Ser294=)
|
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
|
NM_001352514.2(HLCS):c.915G>A (p.Thr305=)
|
rs1000269533
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
|
NM_001352514.2(HLCS):c.924A>G (p.Ala308=)
|
|
|
|
NM_001352514.2(HLCS):c.927C>A (p.Pro309=)
|
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
|
NM_001352514.2(HLCS):c.942T>C (p.Tyr314=)
|
rs1232499269
|
|
|
NM_001352514.2(HLCS):c.945G>T (p.Val315=)
|
rs2146526787
|
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
|
NM_001352514.2(HLCS):c.951C>G (p.Ser317=)
|
rs185480832
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
|
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
|
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
|
NM_001352514.2(HLCS):c.963A>G (p.Glu321=)
|
rs767893846
|
|
|
NM_001352514.2(HLCS):c.978C>T (p.Phe326=)
|
|
|
|
NM_001352514.2(HLCS):c.984G>A (p.Glu328=)
|
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
|
NM_001352514.2(HLCS):c.990G>A (p.Arg330=)
|
rs771741236
|
|
|
NM_001352514.2(HLCS):c.990G>T (p.Arg330=)
|
|
|
|
NM_001352514.2(HLCS):c.997C>T (p.Leu333=)
|
rs1245601073
|
|
|
NM_001352514.2(HLCS):c.999G>T (p.Leu333=)
|
rs1324605554
|
|
|
NM_001363700.2(LIAS):c.299+1682_299+1690del
|
rs776064587
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
|
NM_001370658.1(BTD):c.-16-19T>C
|
|
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
|
NM_001370658.1(BTD):c.-16-5T>C
|
|
|
|
NM_001370658.1(BTD):c.-16-7A>G
|
|
|
|
NM_001370658.1(BTD):c.-16-7A>T
|
|
|
|
NM_001370658.1(BTD):c.-16-7del
|
|
|
|
NM_001370658.1(BTD):c.-17+12_-17+27dup
|
|
|
|
NM_001370658.1(BTD):c.-17+13C>G
|
|
|
|
NM_001370658.1(BTD):c.-17+16G>A
|
|
|
|
NM_001370658.1(BTD):c.-17+16G>C
|
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
|
NM_001370658.1(BTD):c.-17+20C>A
|
|
|
|
NM_001370658.1(BTD):c.-17+20_-17+40dup
|
|
|
|
NM_001370658.1(BTD):c.-17+23_-17+27dup
|
rs775790954
|
|
|
NM_001370658.1(BTD):c.-17+7A>G
|
|
|
|
NM_001370658.1(BTD):c.-17+7A>T
|
|
|
|
NM_001370658.1(BTD):c.-17+8G>C
|
|
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
|
NM_001370658.1(BTD):c.-18del
|
rs2064260290
|
|
|
NM_001370658.1(BTD):c.-1T>C
|
|
|
|
NM_001370658.1(BTD):c.-28C>T
|
rs2125312689
|
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
|
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
|
|
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
|
NM_001370658.1(BTD):c.1026A>G (p.Leu342=)
|
rs1367244547
|
|
|
NM_001370658.1(BTD):c.1035G>A (p.Leu345=)
|
rs768786956
|
|
|
NM_001370658.1(BTD):c.1038A>C (p.Ser346=)
|
|
|
|
NM_001370658.1(BTD):c.1041C>A (p.Gly347=)
|
rs142421934
|
|
|
NM_001370658.1(BTD):c.1047G>T (p.Pro349=)
|
|
|
|
NM_001370658.1(BTD):c.1068G>A (p.Gln356=)
|
rs891263072
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
|
NM_001370658.1(BTD):c.1077C>T (p.His359=)
|
|
|
|
NM_001370658.1(BTD):c.1082_1097del (p.Asp361fs)
|
|
|
|
NM_001370658.1(BTD):c.1086G>A (p.Glu362=)
|
rs1559600186
|
|
|
NM_001370658.1(BTD):c.1092C>A (p.Thr364=)
|
rs753278397
|
|
|
NM_001370658.1(BTD):c.1092dup (p.Lys365fs)
|
|
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
|
NM_001370658.1(BTD):c.1104G>T (p.Val368=)
|
rs750109648
|
|
|
NM_001370658.1(BTD):c.1110T>C (p.Ala370=)
|
rs1473669802
|
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
|
NM_001370658.1(BTD):c.111T>G (p.Tyr37Ter)
|
rs397514339
|
|
|
NM_001370658.1(BTD):c.1130_1155dup (p.Val386delinsArgTer)
|
|
|
|
NM_001370658.1(BTD):c.1137G>A (p.Met379Ile)
|
|
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_001370658.1(BTD):c.1140T>C (p.Tyr380=)
|
|
|
|
NM_001370658.1(BTD):c.1143C>T (p.Asp381=)
|
rs2125504297
|
|
|
NM_001370658.1(BTD):c.114T>C (p.Tyr38=)
|
rs2125453888
|
|
|
NM_001370658.1(BTD):c.1158C>A (p.Val386=)
|
rs956882463
|
|
|
NM_001370658.1(BTD):c.1164C>G (p.Val388=)
|
|
|
|
NM_001370658.1(BTD):c.1164C>T (p.Val388=)
|
|
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
|
NM_001370658.1(BTD):c.1170A>C (p.Gly390=)
|
rs975896326
|
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
|
NM_001370658.1(BTD):c.1182T>C (p.Tyr394=)
|
rs368320941
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
|
NM_001370658.1(BTD):c.1191C>T (p.Val397=)
|
|
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
|
NM_001370658.1(BTD):c.1197C>T (p.Ser399=)
|
|
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
|
NM_001370658.1(BTD):c.1203C>T (p.Gly401=)
|
rs2125504914
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
|
NM_001370658.1(BTD):c.1207del (p.Cys403fs)
|
|
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
|
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)
|
rs397514335
|
|
|
NM_001370658.1(BTD):c.1215T>C (p.Tyr405=)
|
|
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
|
NM_001370658.1(BTD):c.1236C>T (p.Thr412=)
|
rs1575030932
|
|
|
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
|
rs1208591351
|
|
|
NM_001370658.1(BTD):c.1251G>C (p.Leu417=)
|
rs771116095
|
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
|
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
|
|
|
|
NM_001370658.1(BTD):c.1257C>A (p.Ala419=)
|
|
|
|
NM_001370658.1(BTD):c.1257C>T (p.Ala419=)
|
|
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
|
NM_001370658.1(BTD):c.1260G>A (p.Leu420=)
|
|
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
|
NM_001370658.1(BTD):c.1275G>T (p.Gly425=)
|
rs2065662696
|
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
|
NM_001370658.1(BTD):c.129T>C (p.Tyr43=)
|
rs2125453999
|
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
|
NM_001370658.1(BTD):c.1309G>A (p.Val437Met)
|
rs146600671
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
|
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
|
|
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
|
NM_001370658.1(BTD):c.1341C>A (p.Gly447=)
|
|
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
|
NM_001370658.1(BTD):c.1350C>T (p.Thr450=)
|
|
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
|
NM_001370658.1(BTD):c.1368A>G (p.Thr456=)
|
|
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
|
NM_001370658.1(BTD):c.1380G>A (p.Gly460=)
|
|
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
|
NM_001370658.1(BTD):c.1396C>T (p.Leu466=)
|
rs2125506331
|
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
|
NM_001370658.1(BTD):c.1404C>A (p.Gly468=)
|
|
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
|
NM_001370658.1(BTD):c.1419C>G (p.Ser473=)
|
rs1269007233
|
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
|
NM_001370658.1(BTD):c.141C>T (p.Ser47=)
|
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
|
NM_001370658.1(BTD):c.1422T>C (p.Tyr474=)
|
|
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
|
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
|
|
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
|
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
|
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
|
NM_001370658.1(BTD):c.1500C>T (p.Phe500=)
|
|
|
|
NM_001370658.1(BTD):c.1515G>A (p.Arg505=)
|
rs2125507062
|
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
|
NM_001370658.1(BTD):c.1527G>A (p.Gly509=)
|
rs1388523400
|
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
|
NM_001370658.1(BTD):c.1530G>A (p.Leu510=)
|
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
|
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)
|
rs771537277
|
|
|
NM_001370658.1(BTD):c.1547_1548del (p.Tyr516fs)
|
|
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
|
NM_001370658.1(BTD):c.1551G>T (p.Gly517=)
|
|
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
|
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)
|
rs397514429
|
|
|
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
|
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
|
NM_001370658.1(BTD):c.180A>G (p.Gln60=)
|
|
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
|
NM_001370658.1(BTD):c.187T>C (p.Leu63=)
|
|
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
|
NM_001370658.1(BTD):c.204G>A (p.Gln68=)
|
rs781457122
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
|
NM_001370658.1(BTD):c.219T>C (p.Tyr73=)
|
|
|
|
NM_001370658.1(BTD):c.225G>A (p.Gln75=)
|
rs1423985186
|
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
|
NM_001370658.1(BTD):c.249+19A>C
|
|
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
|
NM_001370658.1(BTD):c.250-15T>C
|
|
|
|
NM_001370658.1(BTD):c.250-16A>T
|
|
|
|
NM_001370658.1(BTD):c.250-18T>C
|
|
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
|
NM_001370658.1(BTD):c.267G>T (p.Val89=)
|
rs2125485561
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
|
NM_001370658.1(BTD):c.274G>A (p.Glu92Lys)
|
rs397514352
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
|
NM_001370658.1(BTD):c.279T>C (p.Asp93=)
|
|
|
|
NM_001370658.1(BTD):c.282del (p.Ile95fs)
|
rs2065521862
|
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
|
NM_001370658.1(BTD):c.291A>G (p.Gly97=)
|
|
|
|
NM_001370658.1(BTD):c.339G>T (p.Pro113=)
|
rs181743799
|
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
|
NM_001370658.1(BTD):c.345C>T (p.Pro115=)
|
rs767937184
|
|
|
NM_001370658.1(BTD):c.346C>T (p.Gln116Ter)
|
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
|
NM_001370658.1(BTD):c.357G>A (p.Arg119=)
|
rs2125486415
|
|
|
NM_001370658.1(BTD):c.359G>A (p.Trp120Ter)
|
rs2125486425
|
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
|
NM_001370658.1(BTD):c.366A>T (p.Pro122=)
|
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
|
NM_001370658.1(BTD):c.372G>A (p.Leu124=)
|
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
|
NM_001370658.1(BTD):c.387C>T (p.Phe129=)
|
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
|
NM_001370658.1(BTD):c.399+10G>A
|
|
|
|
NM_001370658.1(BTD):c.399+19C>T
|
|
|
|
NM_001370658.1(BTD):c.399+2T>G
|
|
|
|
NM_001370658.1(BTD):c.399+6dup
|
|
|
|
NM_001370658.1(BTD):c.399+8C>T
|
|
|
|
NM_001370658.1(BTD):c.399+8del
|
rs2125487004
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
|
NM_001370658.1(BTD):c.400-16C>T
|
|
|
|
NM_001370658.1(BTD):c.400-18C>T
|
|
|
|
NM_001370658.1(BTD):c.400-6C>T
|
rs2125499988
|
|
|
NM_001370658.1(BTD):c.400-7C>T
|
|
|
|
NM_001370658.1(BTD):c.400-8T>C
|
rs758512428
|
|
|
NM_001370658.1(BTD):c.400-8dup
|
rs397514361
|
|
|
NM_001370658.1(BTD):c.402G>A (p.Val134=)
|
rs1003151133
|
|
|
NM_001370658.1(BTD):c.405C>G (p.Leu135=)
|
|
|
|
NM_001370658.1(BTD):c.411C>A (p.Arg137=)
|
|
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
|
NM_001370658.1(BTD):c.417T>C (p.Ser139=)
|
rs2125500181
|
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
|
NM_001370658.1(BTD):c.419G>T (p.Cys140Phe)
|
rs745343884
|
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
|
NM_001370658.1(BTD):c.429C>T (p.Ile143=)
|
rs2065628963
|
|
|
NM_001370658.1(BTD):c.430del (p.Arg144fs)
|
|
|
|
NM_001370658.1(BTD):c.435A>T (p.Gly145=)
|
rs2125500346
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
|
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
|
|
|
|
NM_001370658.1(BTD):c.471G>A (p.Glu157=)
|
|
|
|
NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)
|
rs2125500515
|
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
|
NM_001370658.1(BTD):c.48C>G (p.Tyr16Ter)
|
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
|
NM_001370658.1(BTD):c.516C>A (p.Tyr172Ter)
|
rs766476582
|
|
|
NM_001370658.1(BTD):c.516C>T (p.Tyr172=)
|
|
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
|
NM_001370658.1(BTD):c.525C>T (p.Asn175=)
|
rs2125500784
|
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
|
NM_001370658.1(BTD):c.534C>G (p.Val178=)
|
rs757159632
|
|
|
NM_001370658.1(BTD):c.534_536del (p.Val179del)
|
rs397514373
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
|
NM_001370658.1(BTD):c.555C>G (p.Thr185=)
|
|
|
|
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
|
|
|
|
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
|
|
|
|
NM_001370658.1(BTD):c.56_59dup (p.Gly21fs)
|
rs2125453296
|
|
|
NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)
|
rs2065635815
|
|
|
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
|
|
|
|
NM_001370658.1(BTD):c.597A>G (p.Ala199=)
|
|
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
|
NM_001370658.1(BTD):c.604G>C (p.Asp202His)
|
rs200337373
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
|
NM_001370658.1(BTD):c.624T>C (p.Asp208=)
|
|
|
|
NM_001370658.1(BTD):c.630C>T (p.Ile210=)
|
|
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
|
NM_001370658.1(BTD):c.642C>T (p.Thr214=)
|
|
|
|
NM_001370658.1(BTD):c.645C>G (p.Pro215=)
|
|
|
|
NM_001370658.1(BTD):c.671C>T (p.Thr224Ile)
|
|
|
|
NM_001370658.1(BTD):c.672A>G (p.Thr224=)
|
rs777224767
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
|
NM_001370658.1(BTD):c.686del (p.Leu229fs)
|
|
|
|
NM_001370658.1(BTD):c.687G>A (p.Leu229=)
|
rs2125501752
|
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
|
NM_001370658.1(BTD):c.699T>C (p.Pro233=)
|
|
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
|
NM_001370658.1(BTD):c.711C>T (p.Val237=)
|
|
|
|
NM_001370658.1(BTD):c.714C>T (p.Leu238=)
|
rs2125501926
|
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
|
NM_001370658.1(BTD):c.743dup (p.Tyr248Ter)
|
rs2125502078
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
|
NM_001370658.1(BTD):c.753C>T (p.Ala251=)
|
|
|
|
NM_001370658.1(BTD):c.762C>T (p.Asn254=)
|
rs2065642615
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
|
NM_001370658.1(BTD):c.798A>G (p.Lys266=)
|
|
|
|
NM_001370658.1(BTD):c.805G>C (p.Ala269Pro)
|
rs397514334
|
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
|
NM_001370658.1(BTD):c.813C>A (p.Ala271=)
|
|
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
|
NM_001370658.1(BTD):c.81G>A (p.Glu27=)
|
rs530566306
|
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
|
NM_001370658.1(BTD):c.836C>T (p.Ala279Val)
|
rs397514392
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
|
NM_001370658.1(BTD):c.846C>T (p.His282=)
|
|
|
|
NM_001370658.1(BTD):c.84C>T (p.Ser28=)
|
|
|
|
NM_001370658.1(BTD):c.855T>G (p.Val285=)
|
rs2125502708
|
|
|
NM_001370658.1(BTD):c.858G>T (p.Leu286=)
|
|
|
|
NM_001370658.1(BTD):c.867A>G (p.Thr289=)
|
|
|
|
NM_001370658.1(BTD):c.869G>A (p.Gly290Glu)
|
rs397514393
|
|
|
NM_001370658.1(BTD):c.870A>T (p.Gly290=)
|
|
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
|
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
|
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
|
NM_001370658.1(BTD):c.894G>A (p.Glu298=)
|
rs2125502955
|
|
|
NM_001370658.1(BTD):c.897C>T (p.Ser299=)
|
|
|
|
NM_001370658.1(BTD):c.901dup (p.Trp301fs)
|
|
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
|
NM_001370658.1(BTD):c.946C>T (p.Gln316Ter)
|
|
|
|
NM_001370658.1(BTD):c.950del (p.Val317fs)
|
rs2125503248
|
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
|
NM_001370658.1(BTD):c.963A>T (p.Pro321=)
|
rs1313683563
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
|
NM_001370658.1(BTD):c.96T>C (p.His32=)
|
|
|
|
NM_001370658.1(BTD):c.975T>C (p.Ile325=)
|
|
|
|
NM_001370658.1(BTD):c.978T>G (p.Gly326=)
|
rs2125503475
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
|
NM_001370658.1(BTD):c.992del (p.Thr331fs)
|
rs397514398
|
|
|
NM_001370658.1(BTD):c.99C>T (p.His33=)
|
rs397514337
|
|
|
NM_001386678.1(ACAT1):c.120+2267_120+2268del
|
|
|
|
NM_001482.3(GATM):c.1000G>A (p.Gly334Arg)
|
rs749007953
|
|
|
NM_001482.3(GATM):c.1009A>G (p.Ile337Val)
|
rs558560751
|
|
|
NM_001482.3(GATM):c.1017T>C (p.Thr339=)
|
|
|
|
NM_001482.3(GATM):c.1032C>T (p.Ile344=)
|
|
|
|
NM_001482.3(GATM):c.1037C>A (p.Pro346Gln)
|
|
|
|
NM_001482.3(GATM):c.1041C>G (p.Asp347Glu)
|
|
|
|
NM_001482.3(GATM):c.1042+12T>A
|
|
|
|
NM_001482.3(GATM):c.1042+14del
|
|
|
|
NM_001482.3(GATM):c.1042+3A>G
|
rs752016309
|
|
|
NM_001482.3(GATM):c.1042+4T>C
|
rs1191624574
|
|
|
NM_001482.3(GATM):c.1042+5G>A
|
|
|
|
NM_001482.3(GATM):c.1043-10C>T
|
|
|
|
NM_001482.3(GATM):c.1043-12T>C
|
|
|
|
NM_001482.3(GATM):c.1043-12del
|
|
|
|
NM_001482.3(GATM):c.1043-13T>G
|
|
|
|
NM_001482.3(GATM):c.1043-15T>C
|
rs1346435580
|
|
|
NM_001482.3(GATM):c.1043-17G>A
|
|
|
|
NM_001482.3(GATM):c.1043-17G>C
|
|
|
|
NM_001482.3(GATM):c.1043-19C>T
|
|
|
|
NM_001482.3(GATM):c.1043-19_1043-18del
|
|
|
|
NM_001482.3(GATM):c.1043-1G>C
|
|
|
|
NM_001482.3(GATM):c.1043-4T>G
|
rs1889407357
|
|
|
NM_001482.3(GATM):c.104C>G (p.Thr35Ser)
|
rs1331986925
|
|
|
NM_001482.3(GATM):c.1053C>G (p.Leu351=)
|
|
|
|
NM_001482.3(GATM):c.1053C>T (p.Leu351=)
|
|
|
|
NM_001482.3(GATM):c.1067A>G (p.Lys356Arg)
|
rs1889406981
|
|
|
NM_001482.3(GATM):c.1079T>C (p.Met360Thr)
|
|
|
|
NM_001482.3(GATM):c.1079dup (p.Met360fs)
|
|
|
|
NM_001482.3(GATM):c.1082A>T (p.Asn361Ile)
|
rs2140638679
|
|
|
NM_001482.3(GATM):c.108C>T (p.Phe36=)
|
|
|
|
NM_001482.3(GATM):c.10G>A (p.Val4Met)
|
|
|
|
NM_001482.3(GATM):c.10G>C (p.Val4Leu)
|
|
|
|
NM_001482.3(GATM):c.1108G>A (p.Val370Ile)
|
|
|
|
NM_001482.3(GATM):c.1110T>C (p.Val370=)
|
|
|
|
NM_001482.3(GATM):c.1116G>A (p.Val372=)
|
rs780523679
|
|
|
NM_001482.3(GATM):c.1118A>G (p.Asp373Gly)
|
|
|
|
NM_001482.3(GATM):c.1124A>G (p.Asn375Ser)
|
|
|
|
NM_001482.3(GATM):c.112A>G (p.Ser38Gly)
|
rs1889644507
|
|
|
NM_001482.3(GATM):c.1143G>A (p.Lys381=)
|
|
|
|
NM_001482.3(GATM):c.1144A>T (p.Met382Leu)
|
|
|
|
NM_001482.3(GATM):c.1149T>C (p.Phe383=)
|
|
|
|
NM_001482.3(GATM):c.114C>T (p.Ser38=)
|
rs1555384721
|
|
|
NM_001482.3(GATM):c.1159+10A>G
|
rs372945188
|
|
|
NM_001482.3(GATM):c.1159+19A>C
|
|
|
|
NM_001482.3(GATM):c.1159+19A>G
|
rs187979088
|
|
|
NM_001482.3(GATM):c.1159+19A>T
|
rs187979088
|
|
|
NM_001482.3(GATM):c.1159+20del
|
|
|
|
NM_001482.3(GATM):c.1159+9A>C
|
rs2140638533
|
|
|
NM_001482.3(GATM):c.1160-14C>T
|
rs2140636055
|
|
|
NM_001482.3(GATM):c.1160-17T>C
|
|
|
|
NM_001482.3(GATM):c.1160-18A>T
|
|
|
|
NM_001482.3(GATM):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_001482.3(GATM):c.1162A>G (p.Ile388Val)
|
rs1170650328
|
|
|
NM_001482.3(GATM):c.1166C>G (p.Thr389Ser)
|
|
|
|
NM_001482.3(GATM):c.1186C>T (p.Arg396Cys)
|
|
|
|
NM_001482.3(GATM):c.1187G>A (p.Arg396His)
|
|
|
|
NM_001482.3(GATM):c.1187del (p.Arg396fs)
|
|
|
|
NM_001482.3(GATM):c.1190A>G (p.Asn397Ser)
|
rs2140635964
|
|
|
NM_001482.3(GATM):c.1194C>T (p.Ala398=)
|
rs2140635956
|
|
|
NM_001482.3(GATM):c.1196A>G (p.Asn399Ser)
|
|
|
|
NM_001482.3(GATM):c.1200C>T (p.Ser400=)
|
|
|
|
NM_001482.3(GATM):c.1201C>T (p.Leu401=)
|
|
|
|
NM_001482.3(GATM):c.1209del (p.Gly404fs)
|
rs1566838819
|
|
|
NM_001482.3(GATM):c.120G>C (p.Gln40His)
|
|
|
|
NM_001482.3(GATM):c.1218T>C (p.His406=)
|
|
|
|
NM_001482.3(GATM):c.1227C>G (p.Thr409=)
|
|
|
|
NM_001482.3(GATM):c.1227C>T (p.Thr409=)
|
rs1555383902
|
|
|
NM_001482.3(GATM):c.122C>T (p.Ala41Val)
|
rs2140657480
|
|
|
NM_001482.3(GATM):c.1234G>A (p.Val412Ile)
|
|
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
|
NM_001482.3(GATM):c.1239G>C (p.Arg413=)
|
rs550159982
|
|
|
NM_001482.3(GATM):c.123A>G (p.Ala41=)
|
|
|
|
NM_001482.3(GATM):c.1241G>A (p.Arg414His)
|
|
|
|
NM_001482.3(GATM):c.1243C>T (p.Arg415Ter)
|
rs1357374472
|
|
|
NM_001482.3(GATM):c.1245A>G (p.Arg415=)
|
|
|
|
NM_001482.3(GATM):c.1248C>A (p.Gly416=)
|
|
|
|
NM_001482.3(GATM):c.124G>A (p.Ala42Thr)
|
|
|
|
NM_001482.3(GATM):c.1254A>G (p.Leu418=)
|
rs1595481441
|
|
|
NM_001482.3(GATM):c.1264T>C (p.Leu422=)
|
rs2140635755
|
|
|
NM_001482.3(GATM):c.128C>G (p.Thr43Arg)
|
rs868522260
|
|
|
NM_001482.3(GATM):c.128C>T (p.Thr43Met)
|
rs868522260
|
|
|
NM_001482.3(GATM):c.133T>C (p.Ser45Pro)
|
|
|
|
NM_001482.3(GATM):c.133T>G (p.Ser45Ala)
|
|
|
|
NM_001482.3(GATM):c.137C>G (p.Ser46Cys)
|
rs199530681
|
|
|
NM_001482.3(GATM):c.139C>A (p.Arg47=)
|
|
|
|
NM_001482.3(GATM):c.144C>T (p.Asn48=)
|
|
|
|
NM_001482.3(GATM):c.145T>G (p.Ser49Ala)
|
rs796052537
|
|
|
NM_001482.3(GATM):c.14G>T (p.Arg5Leu)
|
|
|
|
NM_001482.3(GATM):c.159C>T (p.Asp53=)
|
rs2140657387
|
|
|
NM_001482.3(GATM):c.167C>A (p.Ala56Asp)
|
|
|
|
NM_001482.3(GATM):c.175C>T (p.Pro59Ser)
|
|
|
|
NM_001482.3(GATM):c.183C>G (p.Pro61=)
|
rs1889642649
|
|
|
NM_001482.3(GATM):c.189C>T (p.Asp63=)
|
|
|
|
NM_001482.3(GATM):c.18T>C (p.Cys6=)
|
|
|
|
NM_001482.3(GATM):c.191G>T (p.Cys64Phe)
|
|
|
|
NM_001482.3(GATM):c.192C>G (p.Cys64Trp)
|
|
|
|
NM_001482.3(GATM):c.204T>C (p.Ser68=)
|
rs2140657290
|
|
|
NM_001482.3(GATM):c.207C>A (p.Tyr69Ter)
|
|
|
|
NM_001482.3(GATM):c.216G>A (p.Trp72Ter)
|
rs1566842679
|
|
|
NM_001482.3(GATM):c.217G>A (p.Asp73Asn)
|
rs1889642061
|
|
|
NM_001482.3(GATM):c.219C>T (p.Asp73=)
|
|
|
|
NM_001482.3(GATM):c.220C>A (p.Pro74Thr)
|
|
|
|
NM_001482.3(GATM):c.221C>T (p.Pro74Leu)
|
|
|
|
NM_001482.3(GATM):c.222C>G (p.Pro74=)
|
|
|
|
NM_001482.3(GATM):c.222C>T (p.Pro74=)
|
rs774485349
|
|
|
NM_001482.3(GATM):c.223T>A (p.Leu75Ile)
|
|
|
|
NM_001482.3(GATM):c.223T>C (p.Leu75=)
|
|
|
|
NM_001482.3(GATM):c.232G>C (p.Val78Leu)
|
|
|
|
NM_001482.3(GATM):c.234G>A (p.Val78=)
|
rs1213691165
|
|
|
NM_001482.3(GATM):c.23G>A (p.Arg8His)
|
rs1889681963
|
|
|
NM_001482.3(GATM):c.243C>T (p.Gly81=)
|
rs1889641457
|
|
|
NM_001482.3(GATM):c.245G>A (p.Arg82Lys)
|
rs1595485790
|
|
|
NM_001482.3(GATM):c.249A>G (p.Ala83=)
|
|
|
|
NM_001482.3(GATM):c.258C>T (p.Ala86=)
|
rs773158424
|
|
|
NM_001482.3(GATM):c.261T>C (p.Cys87=)
|
|
|
|
NM_001482.3(GATM):c.269C>G (p.Pro90Arg)
|
rs1261342154
|
|
|
NM_001482.3(GATM):c.271T>A (p.Phe91Ile)
|
|
|
|
NM_001482.3(GATM):c.280G>A (p.Glu94Lys)
|
|
|
|
NM_001482.3(GATM):c.288+10G>C
|
|
|
|
NM_001482.3(GATM):c.288+11G>T
|
|
|
|
NM_001482.3(GATM):c.288+15T>C
|
|
|
|
NM_001482.3(GATM):c.288+18A>C
|
|
|
|
NM_001482.3(GATM):c.288+2_288+11del
|
|
|
|
NM_001482.3(GATM):c.288+9A>G
|
|
|
|
NM_001482.3(GATM):c.289-12T>G
|
|
|
|
NM_001482.3(GATM):c.289-1_292del
|
|
|
|
NM_001482.3(GATM):c.289-6T>C
|
|
|
|
NM_001482.3(GATM):c.290C>G (p.Ala97Gly)
|
|
|
|
NM_001482.3(GATM):c.297A>G (p.Thr99=)
|
rs1445305823
|
|
|
NM_001482.3(GATM):c.297A>T (p.Thr99=)
|
|
|
|
NM_001482.3(GATM):c.300T>C (p.Tyr100=)
|
|
|
|
NM_001482.3(GATM):c.306G>C (p.Lys102Asn)
|
rs376335787
|
|
|
NM_001482.3(GATM):c.30G>A (p.Gly10=)
|
|
|
|
NM_001482.3(GATM):c.30G>C (p.Gly10=)
|
|
|
|
NM_001482.3(GATM):c.322C>G (p.Gln108Glu)
|
|
|
|
NM_001482.3(GATM):c.323A>G (p.Gln108Arg)
|
rs1398822076
|
|
|
NM_001482.3(GATM):c.32G>C (p.Ser11Thr)
|
|
|
|
NM_001482.3(GATM):c.330A>C (p.Gln110His)
|
rs1288775
|
|
|
NM_001482.3(GATM):c.337C>G (p.His113Asp)
|
rs1889504232
|
|
|
NM_001482.3(GATM):c.347C>T (p.Pro116Leu)
|
|
|
|
NM_001482.3(GATM):c.350A>G (p.Lys117Arg)
|
rs1472551759
|
|
|
NM_001482.3(GATM):c.355C>A (p.His119Asn)
|
|
|
|
NM_001482.3(GATM):c.357T>C (p.His119=)
|
rs2140646869
|
|
|
NM_001482.3(GATM):c.368C>T (p.Ala123Val)
|
|
|
|
NM_001482.3(GATM):c.36C>T (p.Arg12=)
|
|
|
|
NM_001482.3(GATM):c.370G>A (p.Val124Ile)
|
|
|
|
NM_001482.3(GATM):c.371T>C (p.Val124Ala)
|
rs1889503302
|
|
|
NM_001482.3(GATM):c.378A>T (p.Glu126Asp)
|
rs1889503051
|
|
|
NM_001482.3(GATM):c.37G>A (p.Gly13Ser)
|
rs1566843333
|
|
|
NM_001482.3(GATM):c.380T>C (p.Ile127Thr)
|
rs1896556912
|
|
|
NM_001482.3(GATM):c.387A>T (p.Glu129Asp)
|
rs756420233
|
|
|
NM_001482.3(GATM):c.393C>T (p.Cys131=)
|
rs2140646762
|
|
|
NM_001482.3(GATM):c.394A>C (p.Asn132His)
|
rs767740292
|
|
|
NM_001482.3(GATM):c.395A>C (p.Asn132Thr)
|
rs759658712
|
|
|
NM_001482.3(GATM):c.395A>G (p.Asn132Ser)
|
rs759658712
|
|
|
NM_001482.3(GATM):c.396T>C (p.Asn132=)
|
rs1454154614
|
|
|
NM_001482.3(GATM):c.396T>G (p.Asn132Lys)
|
rs1454154614
|
|
|
NM_001482.3(GATM):c.39C>A (p.Gly13=)
|
|
|
|
NM_001482.3(GATM):c.401T>G (p.Leu134Ter)
|
rs2140646735
|
|
|
NM_001482.3(GATM):c.405A>G (p.Lys135=)
|
rs1889502312
|
|
|
NM_001482.3(GATM):c.41_48dup (p.Val17fs)
|
|
|
|
NM_001482.3(GATM):c.420A>G (p.Thr140=)
|
rs1163045526
|
|
|
NM_001482.3(GATM):c.427A>C (p.Arg143=)
|
|
|
|
NM_001482.3(GATM):c.429G>A (p.Arg143=)
|
|
|
|
NM_001482.3(GATM):c.42C>G (p.Ala14=)
|
rs892312757
|
|
|
NM_001482.3(GATM):c.433G>A (p.Asp145Asn)
|
rs1555384309
|
|
|
NM_001482.3(GATM):c.434A>C (p.Asp145Ala)
|
|
|
|
NM_001482.3(GATM):c.436C>A (p.Pro146Thr)
|
|
|
|
NM_001482.3(GATM):c.438C>T (p.Pro146=)
|
|
|
|
NM_001482.3(GATM):c.440T>C (p.Ile147Thr)
|
|
|
|
NM_001482.3(GATM):c.444C>G (p.Asp148Glu)
|
rs1889500716
|
|
|
NM_001482.3(GATM):c.444C>T (p.Asp148=)
|
|
|
|
NM_001482.3(GATM):c.448T>G (p.Ser150Ala)
|
|
|
|
NM_001482.3(GATM):c.450A>G (p.Ser150=)
|
|
|
|
NM_001482.3(GATM):c.460A>G (p.Lys154Glu)
|
|
|
|
NM_001482.3(GATM):c.464C>G (p.Thr155Ser)
|
|
|
|
NM_001482.3(GATM):c.466C>T (p.Pro156Ser)
|
rs771614762
|
|
|
NM_001482.3(GATM):c.472T>C (p.Phe158Leu)
|
|
|
|
NM_001482.3(GATM):c.482C>T (p.Thr161Met)
|
|
|
|
NM_001482.3(GATM):c.483G>A (p.Thr161=)
|
rs771343478
|
|
|
NM_001482.3(GATM):c.483G>T (p.Thr161=)
|
rs771343478
|
|
|
NM_001482.3(GATM):c.484+11T>C
|
|
|
|
NM_001482.3(GATM):c.484+13A>G
|
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|
|
NM_001482.3(GATM):c.484+15A>G
|
|
|
|
NM_001482.3(GATM):c.484+17A>G
|
|
|
|
NM_001482.3(GATM):c.484+3A>G
|
rs1595483673
|
|
|
NM_001482.3(GATM):c.485-11dup
|
rs758611156
|
|
|
NM_001482.3(GATM):c.485-17A>G
|
|
|
|
NM_001482.3(GATM):c.485-8T>G
|
|
|
|
NM_001482.3(GATM):c.48G>A (p.Ala16=)
|
rs587780951
|
|
|
NM_001482.3(GATM):c.49G>T (p.Val17Leu)
|
|
|
|
NM_001482.3(GATM):c.4C>G (p.Leu2Val)
|
|
|
|
NM_001482.3(GATM):c.506G>A (p.Arg169Gln)
|
|
|
|
NM_001482.3(GATM):c.511A>T (p.Ile171Phe)
|
rs747203599
|
|
|
NM_001482.3(GATM):c.516G>T (p.Leu172=)
|
|
|
|
NM_001482.3(GATM):c.51G>A (p.Val17=)
|
|
|
|
NM_001482.3(GATM):c.522T>C (p.Val174=)
|
|
|
|
NM_001482.3(GATM):c.541G>A (p.Glu181Lys)
|
rs376982466
|
|
|
NM_001482.3(GATM):c.547C>T (p.Pro183Ser)
|
|
|
|
NM_001482.3(GATM):c.551del (p.Met184fs)
|
|
|
|
NM_001482.3(GATM):c.553G>C (p.Ala185Pro)
|
rs2140644920
|
|
|
NM_001482.3(GATM):c.553G>T (p.Ala185Ser)
|
rs2140644920
|
|
|
NM_001482.3(GATM):c.555A>G (p.Ala185=)
|
|
|
|
NM_001482.3(GATM):c.564A>C (p.Ser188=)
|
|
|
|
NM_001482.3(GATM):c.566G>T (p.Arg189Leu)
|
|
|
|
NM_001482.3(GATM):c.56A>G (p.Tyr19Cys)
|
|
|
|
NM_001482.3(GATM):c.576G>A (p.Glu192=)
|
rs759135975
|
|
|
NM_001482.3(GATM):c.580C>T (p.Arg194Ter)
|
|
|
|
NM_001482.3(GATM):c.585G>A (p.Ala195=)
|
rs773913371
|
|
|
NM_001482.3(GATM):c.585G>C (p.Ala195=)
|
|
|
|
NM_001482.3(GATM):c.588C>T (p.Tyr196=)
|
|
|
|
NM_001482.3(GATM):c.591G>T (p.Arg197Ser)
|
rs1167013064
|
|
|
NM_001482.3(GATM):c.592T>G (p.Ser198Ala)
|
rs796052535
|
|
|
NM_001482.3(GATM):c.595A>G (p.Ile199Val)
|
|
|
|
NM_001482.3(GATM):c.60C>T (p.Ile20=)
|
|
|
|
NM_001482.3(GATM):c.614A>C (p.His205Pro)
|
|
|
|
NM_001482.3(GATM):c.615C>T (p.His205=)
|
|
|
|
NM_001482.3(GATM):c.627G>A (p.Lys209=)
|
|
|
|
NM_001482.3(GATM):c.631A>G (p.Thr211Ala)
|
|
|
|
NM_001482.3(GATM):c.633A>G (p.Thr211=)
|
rs1889477759
|
|
|
NM_001482.3(GATM):c.634A>G (p.Thr212Ala)
|
|
|
|
NM_001482.3(GATM):c.63A>T (p.Gly21=)
|
|
|
|
NM_001482.3(GATM):c.646C>T (p.Pro216Ser)
|
rs2140644628
|
|
|
NM_001482.3(GATM):c.652A>G (p.Met218Val)
|
|
|
|
NM_001482.3(GATM):c.654G>A (p.Met218Ile)
|
rs1555384217
|
|
|
NM_001482.3(GATM):c.663G>A (p.Glu221=)
|
|
|
|
NM_001482.3(GATM):c.675+10T>A
|
|
|
|
NM_001482.3(GATM):c.675+14T>A
|
|
|
|
NM_001482.3(GATM):c.675+18G>A
|
rs2140644526
|
|
|
NM_001482.3(GATM):c.675+3G>C
|
rs1049378713
|
|
|
NM_001482.3(GATM):c.675+8C>A
|
|
|
|
NM_001482.3(GATM):c.675+8C>G
|
|
|
|
NM_001482.3(GATM):c.676-14C>T
|
|
|
|
NM_001482.3(GATM):c.676-16T>C
|
|
|
|
NM_001482.3(GATM):c.676-18C>T
|
|
|
|
NM_001482.3(GATM):c.676-1G>C
|
|
|
|
NM_001482.3(GATM):c.676-27GT[3]
|
|
|
|
NM_001482.3(GATM):c.676-5A>G
|
|
|
|
NM_001482.3(GATM):c.676G>T (p.Asp226Tyr)
|
|
|
|
NM_001482.3(GATM):c.683C>G (p.Pro228Arg)
|
|
|
|
NM_001482.3(GATM):c.684C>T (p.Pro228=)
|
rs1251849022
|
|
|
NM_001482.3(GATM):c.688C>T (p.His230Tyr)
|
|
|
|
NM_001482.3(GATM):c.68G>C (p.Arg23Pro)
|
rs370155767
|
|
|
NM_001482.3(GATM):c.69+10C>T
|
|
|
|
NM_001482.3(GATM):c.69+13C>G
|
|
|
|
NM_001482.3(GATM):c.69+14C>T
|
|
|
|
NM_001482.3(GATM):c.69+15G>A
|
|
|
|
NM_001482.3(GATM):c.69+15G>T
|
|
|
|
NM_001482.3(GATM):c.69+17C>G
|
|
|
|
NM_001482.3(GATM):c.69+17C>T
|
|
|
|
NM_001482.3(GATM):c.69+1G>A
|
|
|
|
NM_001482.3(GATM):c.69+20C>A
|
|
|
|
NM_001482.3(GATM):c.69+20C>T
|
|
|
|
NM_001482.3(GATM):c.69+4C>T
|
|
|
|
NM_001482.3(GATM):c.69+5G>A
|
|
|
|
NM_001482.3(GATM):c.69+8C>G
|
rs1044785525
|
|
|
NM_001482.3(GATM):c.69+8C>T
|
rs1044785525
|
|
|
NM_001482.3(GATM):c.693T>C (p.Ser231=)
|
|
|
|
NM_001482.3(GATM):c.699A>G (p.Glu233=)
|
|
|
|
NM_001482.3(GATM):c.70-10T>A
|
|
|
|
NM_001482.3(GATM):c.70-19T>C
|
|
|
|
NM_001482.3(GATM):c.70-20C>G
|
|
|
|
NM_001482.3(GATM):c.70-2A>C
|
|
|
|
NM_001482.3(GATM):c.70-5G>A
|
rs752014055
|
|
|
NM_001482.3(GATM):c.70-8C>A
|
|
|
|
NM_001482.3(GATM):c.710A>T (p.Lys237Ile)
|
|
|
|
NM_001482.3(GATM):c.712T>C (p.Leu238=)
|
|
|
|
NM_001482.3(GATM):c.715G>T (p.Ala239Ser)
|
|
|
|
NM_001482.3(GATM):c.724G>A (p.Gly242Arg)
|
rs1236954285
|
|
|
NM_001482.3(GATM):c.724_725del (p.Gly242fs)
|
rs2140641896
|
|
|
NM_001482.3(GATM):c.733G>A (p.Val245Met)
|
|
|
|
NM_001482.3(GATM):c.741T>C (p.Thr247=)
|
|
|
|
NM_001482.3(GATM):c.74G>A (p.Gly25Glu)
|
|
|
|
NM_001482.3(GATM):c.752C>T (p.Pro251Leu)
|
rs1424827158
|
|
|
NM_001482.3(GATM):c.753A>T (p.Pro251=)
|
|
|
|
NM_001482.3(GATM):c.756C>T (p.Cys252=)
|
|
|
|
NM_001482.3(GATM):c.759T>C (p.Phe253=)
|
|
|
|
NM_001482.3(GATM):c.76C>T (p.Arg26Ter)
|
|
|
|
NM_001482.3(GATM):c.771C>T (p.Asp257=)
|
|
|
|
NM_001482.3(GATM):c.778C>A (p.Arg260=)
|
|
|
|
NM_001482.3(GATM):c.779G>A (p.Arg260Gln)
|
rs1364915703
|
|
|
NM_001482.3(GATM):c.77G>A (p.Arg26Gln)
|
|
|
|
NM_001482.3(GATM):c.77G>T (p.Arg26Leu)
|
|
|
|
NM_001482.3(GATM):c.786A>G (p.Gly262=)
|
rs2140641821
|
|
|
NM_001482.3(GATM):c.789A>C (p.Arg263Ser)
|
|
|
|
NM_001482.3(GATM):c.792T>G (p.Asp264Glu)
|
|
|
|
NM_001482.3(GATM):c.798T>C (p.Phe266=)
|
rs2140641810
|
|
|
NM_001482.3(GATM):c.798T>G (p.Phe266Leu)
|
|
|
|
NM_001482.3(GATM):c.801A>G (p.Ala267=)
|
|
|
|
NM_001482.3(GATM):c.813+11G>A
|
rs1172869031
|
|
|
NM_001482.3(GATM):c.813+11G>C
|
|
|
|
NM_001482.3(GATM):c.813+16C>T
|
rs768644583
|
|
|
NM_001482.3(GATM):c.813+7G>A
|
|
|
|
NM_001482.3(GATM):c.813+7G>C
|
rs1204672868
|
|
|
NM_001482.3(GATM):c.813+7G>T
|
rs1204672868
|
|
|
NM_001482.3(GATM):c.814-12T>C
|
rs1595482667
|
|
|
NM_001482.3(GATM):c.814-13_814-10del
|
rs2140641622
|
|
|
NM_001482.3(GATM):c.814-14T>C
|
|
|
|
NM_001482.3(GATM):c.814-17C>G
|
rs368314780
|
|
|
NM_001482.3(GATM):c.814-19G>T
|
|
|
|
NM_001482.3(GATM):c.827T>G (p.Leu276Arg)
|
rs1889446108
|
|
|
NM_001482.3(GATM):c.831C>T (p.Gly277=)
|
|
|
|
NM_001482.3(GATM):c.832A>G (p.Ile278Val)
|
|
|
|
NM_001482.3(GATM):c.843G>A (p.Met281Ile)
|
|
|
|
NM_001482.3(GATM):c.850C>T (p.His284Tyr)
|
|
|
|
NM_001482.3(GATM):c.855T>C (p.Leu285=)
|
|
|
|
NM_001482.3(GATM):c.85A>G (p.Thr29Ala)
|
rs763273843
|
|
|
NM_001482.3(GATM):c.865T>C (p.Tyr289His)
|
|
|
|
NM_001482.3(GATM):c.867C>T (p.Tyr289=)
|
|
|
|
NM_001482.3(GATM):c.877A>T (p.Ile293Phe)
|
rs2140641528
|
|
|
NM_001482.3(GATM):c.878T>C (p.Ile293Thr)
|
rs1595482625
|
|
|
NM_001482.3(GATM):c.880A>G (p.Ile294Val)
|
|
|
|
NM_001482.3(GATM):c.882C>T (p.Ile294=)
|
|
|
|
NM_001482.3(GATM):c.892G>A (p.Asp298Asn)
|
|
|
|
NM_001482.3(GATM):c.897C>T (p.Pro299=)
|
rs2140641504
|
|
|
NM_001482.3(GATM):c.89G>T (p.Gly30Val)
|
rs773473195
|
|
|
NM_001482.3(GATM):c.905T>C (p.Met302Thr)
|
|
|
|
NM_001482.3(GATM):c.909T>C (p.His303=)
|
rs2140641491
|
|
|
NM_001482.3(GATM):c.913_918del (p.Asp305_Ala306del)
|
rs1889444227
|
|
|
NM_001482.3(GATM):c.917C>G (p.Ala306Gly)
|
|
|
|
NM_001482.3(GATM):c.924C>G (p.Phe308Leu)
|
rs2140641473
|
|
|
NM_001482.3(GATM):c.930C>G (p.Ile310Met)
|
|
|
|
NM_001482.3(GATM):c.930C>T (p.Ile310=)
|
rs2140641456
|
|
|
NM_001482.3(GATM):c.932T>C (p.Ile311Thr)
|
rs1460902723
|
|
|
NM_001482.3(GATM):c.941G>C (p.Gly314Ala)
|
rs1889443912
|
|
|
NM_001482.3(GATM):c.946G>A (p.Val316Met)
|
rs1889443760
|
|
|
NM_001482.3(GATM):c.959del (p.Pro320fs)
|
rs1889443484
|
|
|
NM_001482.3(GATM):c.964C>A (p.Arg322=)
|
|
|
|
NM_001482.3(GATM):c.969A>G (p.Pro323=)
|
|
|
|
NM_001482.3(GATM):c.975C>G (p.His325Gln)
|
|
|
|
NM_001482.3(GATM):c.978+12C>A
|
|
|
|
NM_001482.3(GATM):c.978+16G>C
|
|
|
|
NM_001482.3(GATM):c.978+17del
|
|
|
|
NM_001482.3(GATM):c.978+4A>G
|
rs370363696
|
|
|
NM_001482.3(GATM):c.978+9T>C
|
rs1555384111
|
|
|
NM_001482.3(GATM):c.979-10G>T
|
|
|
|
NM_001482.3(GATM):c.979-11del
|
rs202176047
|
|
|
NM_001482.3(GATM):c.979-12T>C
|
|
|
|
NM_001482.3(GATM):c.979-12_979-11del
|
rs202176047
|
|
|
NM_001482.3(GATM):c.979-15T>C
|
|
|
|
NM_001482.3(GATM):c.979-18T>A
|
|
|
|
NM_001482.3(GATM):c.979-18T>G
|
|
|
|
NM_001482.3(GATM):c.979-18dup
|
rs202176047
|
|
|
NM_001482.3(GATM):c.979-19del
|
|
|
|
NM_001482.3(GATM):c.979-19dup
|
|
|
|
NM_001482.3(GATM):c.979-1_979insT
|
|
|
|
NM_001482.3(GATM):c.979-9G>A
|
|
|
|
NM_001482.3(GATM):c.984T>C (p.Asp328=)
|
rs1203613389
|
|
|
NM_001482.3(GATM):c.985C>A (p.Leu329Ile)
|
|
|
|
NM_001482.3(GATM):c.989T>C (p.Phe330Ser)
|
rs2140639842
|
|
|
NM_001482.3(GATM):c.990C>T (p.Phe330=)
|
|
|
|
NM_001482.3(GATM):c.991A>C (p.Lys331Gln)
|
rs1566839535
|
|
|
NM_001482.3(GATM):c.992A>G (p.Lys331Arg)
|
|
|
|
NM_001482.3(GATM):c.998C>T (p.Ala333Val)
|
rs1156646457
|
|
|
NM_001609.4(ACADSB):c.1008G>A (p.Val336=)
|
rs1240421187
|
|
|
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
|
rs57339164
|
|
|
NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)
|
|
|
|
NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)
|
|
|
|
NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)
|
|
|
|
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=)
|
rs886046780
|
|
|
NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)
|
|
|
|
NM_001609.4(ACADSB):c.1128+1_1128+3del
|
rs1228768873
|
|
|
NM_001609.4(ACADSB):c.1128+25_1128+26del
|
|
|
|
NM_001609.4(ACADSB):c.1128+2_1128+3insTA
|
rs1554874107
|
|
|
NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)
|
|
|
|
NM_001609.4(ACADSB):c.1172del (p.Gly391fs)
|
|
|
|
NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)
|
|
|
|
NM_001609.4(ACADSB):c.1228+1G>A
|
rs943046481
|
|
|
NM_001609.4(ACADSB):c.1228+20_1228+21del
|
rs11307362
|
|
|
NM_001609.4(ACADSB):c.1228+21del
|
rs11307362
|
|
|
NM_001609.4(ACADSB):c.1228+7A>G
|
|
|
|
NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)
|
|
|
|
NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)
|
|
|
|
NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)
|
rs1430062937
|
|
|
NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)
|
rs2133445397
|
|
|
NM_001609.4(ACADSB):c.159C>T (p.Pro53=)
|
rs1370145865
|
|
|
NM_001609.4(ACADSB):c.202+1G>C
|
|
|
|
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
|
rs1179957829
|
|
|
NM_001609.4(ACADSB):c.261G>A (p.Ser87=)
|
|
|
|
NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)
|
|
|
|
NM_001609.4(ACADSB):c.334G>A (p.Gly112Arg)
|
rs1564751382
|
|
|
NM_001609.4(ACADSB):c.336A>G (p.Gly112=)
|
|
|
|
NM_001609.4(ACADSB):c.356del (p.Leu119fs)
|
|
|
|
NM_001609.4(ACADSB):c.369C>T (p.Leu123=)
|
|
|
|
NM_001609.4(ACADSB):c.370G>A (p.Val124Met)
|
|
|
|
NM_001609.4(ACADSB):c.370G>C (p.Val124Leu)
|
rs375217368
|
|
|
NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)
|
rs753508431
|
|
|
NM_001609.4(ACADSB):c.42G>A (p.Leu14=)
|
rs745863047
|
|
|
NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)
|
|
|
|
NM_001609.4(ACADSB):c.45A>C (p.Leu15=)
|
rs564497027
|
|
|
NM_001609.4(ACADSB):c.511-8A>G
|
|
|
|
NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)
|
|
|
|
NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)
|
|
|
|
NM_001609.4(ACADSB):c.544G>T (p.Gly182Cys)
|
rs886046778
|
|
|
NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)
|
|
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
|
NM_001609.4(ACADSB):c.6G>A (p.Glu2=)
|
|
|
|
NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)
|
|
|
|
NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)
|
|
|
|
NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)
|
|
|
|
NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)
|
|
|
|
NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)
|
|
|
|
NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)
|
rs2133483475
|
|
|
NM_001609.4(ACADSB):c.808-18G>A
|
|
|
|
NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)
|
|
|
|
NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)
|
|
|
|
NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)
|
|
|
|
NM_001609.4(ACADSB):c.900+7C>G
|
rs2133484739
|
|
|
NM_001609.4(ACADSB):c.901-11T>G
|
|
|
|
NM_001609.4(ACADSB):c.901-2A>G
|
|
|
|
NM_001609.4(ACADSB):c.939T>C (p.Ile313=)
|
|
|
|
NM_001609.4(ACADSB):c.958A>T (p.Ile320Leu)
|
rs1554873785
|
|
|
NM_001698.3(AUH):c.107T>C (p.Leu36Pro)
|
|
|
|
NM_001698.3(AUH):c.10G>A (p.Ala4Thr)
|
|
|
|
NM_001698.3(AUH):c.12G>A (p.Ala4=)
|
|
|
|
NM_001698.3(AUH):c.12G>C (p.Ala4=)
|
|
|
|
NM_001698.3(AUH):c.153C>T (p.Ala51=)
|
|
|
|
NM_001698.3(AUH):c.156G>C (p.Gln52His)
|
|
|
|
NM_001698.3(AUH):c.174C>T (p.Ala58=)
|
|
|
|
NM_001698.3(AUH):c.197G>C (p.Gly66Ala)
|
|
|
|
NM_001698.3(AUH):c.197G>T (p.Gly66Val)
|
rs1323577454
|
|
|
NM_001698.3(AUH):c.197del (p.Gly66fs)
|
rs1219516037
|
|
|
NM_001698.3(AUH):c.204C>G (p.Ser68Arg)
|
|
|
|
NM_001698.3(AUH):c.20C>A (p.Ala7Glu)
|
|
|
|
NM_001698.3(AUH):c.211A>C (p.Met71Leu)
|
rs756127206
|
|
|
NM_001698.3(AUH):c.215_217dup (p.Lys72_Thr73insLys)
|
|
|
|
NM_001698.3(AUH):c.231G>C (p.Leu77=)
|
|
|
|
NM_001698.3(AUH):c.232C>T (p.Arg78Trp)
|
|
|
|
NM_001698.3(AUH):c.23C>T (p.Ala8Val)
|
|
|
|
NM_001698.3(AUH):c.243C>G (p.His81Gln)
|
rs372245304
|
|
|
NM_001698.3(AUH):c.261A>T (p.Arg87=)
|
rs2132125368
|
|
|
NM_001698.3(AUH):c.262+10G>A
|
|
|
|
NM_001698.3(AUH):c.262+8G>A
|
|
|
|
NM_001698.3(AUH):c.263-10C>T
|
|
|
|
NM_001698.3(AUH):c.263-15T>C
|
rs1341392485
|
|
|
NM_001698.3(AUH):c.263-5_263-2del
|
rs752149463
|
|
|
NM_001698.3(AUH):c.268_282del (p.Val90_Ile94del)
|
rs2132084310
|
|
|
NM_001698.3(AUH):c.304T>A (p.Ser102Thr)
|
rs1554721818
|
|
|
NM_001698.3(AUH):c.331-12A>G
|
|
|
|
NM_001698.3(AUH):c.331-14C>T
|
|
|
|
NM_001698.3(AUH):c.331-20T>A
|
|
|
|
NM_001698.3(AUH):c.341C>G (p.Ala114Gly)
|
|
|
|
NM_001698.3(AUH):c.342T>C (p.Ala114=)
|
|
|
|
NM_001698.3(AUH):c.350C>T (p.Ala117Val)
|
rs1832379274
|
|
|
NM_001698.3(AUH):c.382A>G (p.Ile128Val)
|
|
|
|
NM_001698.3(AUH):c.385A>G (p.Ile129Val)
|
rs1423043030
|
|
|
NM_001698.3(AUH):c.385A>T (p.Ile129Phe)
|
rs1423043030
|
|
|
NM_001698.3(AUH):c.39dup (p.Ser14fs)
|
|
|
|
NM_001698.3(AUH):c.408A>G (p.Ile136Met)
|
|
|
|
NM_001698.3(AUH):c.40T>C (p.Ser14Pro)
|
rs1482564472
|
|
|
NM_001698.3(AUH):c.419-2A>G
|
|
|
|
NM_001698.3(AUH):c.419-5T>G
|
|
|
|
NM_001698.3(AUH):c.419G>T (p.Gly140Val)
|
|
|
|
NM_001698.3(AUH):c.430A>G (p.Lys144Glu)
|
rs2131861010
|
|
|
NM_001698.3(AUH):c.434A>C (p.Glu145Ala)
|
rs2131860995
|
|
|
NM_001698.3(AUH):c.445A>G (p.Met149Val)
|
|
|
|
NM_001698.3(AUH):c.466C>T (p.Pro156Ser)
|
|
|
|
NM_001698.3(AUH):c.467C>G (p.Pro156Arg)
|
|
|
|
NM_001698.3(AUH):c.471del (p.Phe157fs)
|
|
|
|
NM_001698.3(AUH):c.47A>G (p.His16Arg)
|
|
|
|
NM_001698.3(AUH):c.498C>G (p.Asn166Lys)
|
|
|
|
NM_001698.3(AUH):c.498C>T (p.Asn166=)
|
|
|
|
NM_001698.3(AUH):c.499G>A (p.Asp167Asn)
|
rs776409546
|
|
|
NM_001698.3(AUH):c.505+18C>G
|
|
|
|
NM_001698.3(AUH):c.505+7A>G
|
|
|
|
NM_001698.3(AUH):c.506-6T>C
|
|
|
|
NM_001698.3(AUH):c.506-8C>T
|
|
|
|
NM_001698.3(AUH):c.516dup (p.Val173fs)
|
|
|
|
NM_001698.3(AUH):c.526A>G (p.Ile176Val)
|
|
|
|
NM_001698.3(AUH):c.546C>T (p.Leu182=)
|
|
|
|
NM_001698.3(AUH):c.573T>A (p.Ala191=)
|
|
|
|
NM_001698.3(AUH):c.578C>T (p.Ala193Val)
|
rs2131662764
|
|
|
NM_001698.3(AUH):c.584A>C (p.Asp195Ala)
|
rs1827482942
|
|
|
NM_001698.3(AUH):c.598+11A>T
|
rs1406913489
|
|
|
NM_001698.3(AUH):c.598+9_598+12del
|
rs749186187
|
|
|
NM_001698.3(AUH):c.599-2A>G
|
rs1587799880
|
|
|
NM_001698.3(AUH):c.599-7G>A
|
|
|
|
NM_001698.3(AUH):c.623T>C (p.Val208Ala)
|
rs1050057219
|
|
|
NM_001698.3(AUH):c.655+11T>A
|
|
|
|
NM_001698.3(AUH):c.655+3A>T
|
|
|
|
NM_001698.3(AUH):c.656-17T>G
|
|
|
|
NM_001698.3(AUH):c.656G>C (p.Gly219Ala)
|
rs1827104191
|
|
|
NM_001698.3(AUH):c.658G>C (p.Gly220Arg)
|
|
|
|
NM_001698.3(AUH):c.66G>C (p.Leu22=)
|
|
|
|
NM_001698.3(AUH):c.677G>A (p.Arg226His)
|
|
|
|
NM_001698.3(AUH):c.690G>A (p.Met230Ile)
|
rs1403383788
|
|
|
NM_001698.3(AUH):c.713T>C (p.Phe238Ser)
|
rs1587621572
|
|
|
NM_001698.3(AUH):c.714C>T (p.Phe238=)
|
rs1173204062
|
|
|
NM_001698.3(AUH):c.736A>G (p.Lys246Glu)
|
rs2131215718
|
|
|
NM_001698.3(AUH):c.738A>G (p.Lys246=)
|
|
|
|
NM_001698.3(AUH):c.740A>C (p.Glu247Ala)
|
|
|
|
NM_001698.3(AUH):c.742G>A (p.Ala248Thr)
|
rs755299132
|
|
|
NM_001698.3(AUH):c.768C>T (p.His256=)
|
|
|
|
NM_001698.3(AUH):c.780G>C (p.Gln260His)
|
|
|
|
NM_001698.3(AUH):c.804C>T (p.Tyr268=)
|
rs775342115
|
|
|
NM_001698.3(AUH):c.809A>G (p.Lys270Arg)
|
|
|
|
NM_001698.3(AUH):c.825G>A (p.Ala275=)
|
|
|
|
NM_001698.3(AUH):c.833T>C (p.Phe278Ser)
|
rs1398261487
|
|
|
NM_001698.3(AUH):c.856A>G (p.Met286Val)
|
rs776767438
|
|
|
NM_001698.3(AUH):c.894+14dup
|
rs2131194109
|
|
|
NM_001698.3(AUH):c.894+19G>C
|
rs377735590
|
|
|
NM_001698.3(AUH):c.895-9del
|
rs1194639501
|
|
|
NM_001698.3(AUH):c.897C>T (p.Val299=)
|
|
|
|
NM_001698.3(AUH):c.909A>C (p.Thr303=)
|
rs779607746
|
|
|
NM_001698.3(AUH):c.942+4dup
|
rs1554688047
|
|
|
NM_001698.3(AUH):c.943-16A>G
|
|
|
|
NM_001698.3(AUH):c.943-6del
|
rs1826708001
|
|
|
NM_001698.3(AUH):c.951A>T (p.Pro317=)
|
rs530710210
|
|
|
NM_001698.3(AUH):c.96G>A (p.Pro32=)
|
|
|
|
NM_001698.3(AUH):c.973C>G (p.Leu325Val)
|
|
|
|
NM_001698.3(AUH):c.980C>G (p.Ala327Gly)
|
|
|
|
NM_001698.3(AUH):c.996G>A (p.Arg332=)
|
|
|
|
NM_001698.3(AUH):c.997C>A (p.Pro333Thr)
|
|
|
|
NM_001739.2(CA5A):c.143-15TC[5]
|
rs2144072738
|
|
|
NM_001739.2(CA5A):c.143-16G>A
|
|
|
|
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)
|
|
|
|
NM_001739.2(CA5A):c.159G>A (p.Thr53=)
|
|
|
|
NM_001739.2(CA5A):c.165G>A (p.Pro55=)
|
|
|
|
NM_001739.2(CA5A):c.178G>C (p.Gly60Arg)
|
|
|
|
NM_001739.2(CA5A):c.185C>T (p.Thr62Ile)
|
|
|
|
NM_001739.2(CA5A):c.187C>T (p.Arg63Trp)
|
|
|
|
NM_001739.2(CA5A):c.18T>C (p.Thr6=)
|
rs748244375
|
|
|
NM_001739.2(CA5A):c.219C>T (p.Asp73=)
|
rs1213799028
|
|
|
NM_001739.2(CA5A):c.249C>G (p.Leu83=)
|
|
|
|
NM_001739.2(CA5A):c.255C>G (p.Val85=)
|
|
|
|
NM_001739.2(CA5A):c.279G>A (p.Leu93=)
|
|
|
|
NM_001739.2(CA5A):c.283A>G (p.Ile95Val)
|
|
|
|
NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn)
|
rs1295048155
|
|
|
NM_001739.2(CA5A):c.322G>A (p.Asp108Asn)
|
|
|
|
NM_001739.2(CA5A):c.376C>G (p.Leu126Val)
|
rs2143963929
|
|
|
NM_001739.2(CA5A):c.387T>G (p.Phe129Leu)
|
|
|
|
NM_001739.2(CA5A):c.404C>T (p.Ala135Val)
|
|
|
|
NM_001739.2(CA5A):c.429C>T (p.His143=)
|
|
|
|
NM_001739.2(CA5A):c.447G>A (p.Ala149=)
|
|
|
|
NM_001739.2(CA5A):c.459+11G>A
|
|
|
|
NM_001739.2(CA5A):c.459+7A>T
|
|
|
|
NM_001739.2(CA5A):c.460-14C>A
|
|
|
|
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)
|
|
|
|
NM_001739.2(CA5A):c.508G>T (p.Ala170Ser)
|
|
|
|
NM_001739.2(CA5A):c.510T>A (p.Ala170=)
|
|
|
|
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
|
rs2143950598
|
|
|
NM_001739.2(CA5A):c.513C>T (p.Val171=)
|
|
|
|
NM_001739.2(CA5A):c.514G>A (p.Val172Met)
|
|
|
|
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)
|
rs142182110
|
|
|
NM_001739.2(CA5A):c.523A>G (p.Asn175Asp)
|
|
|
|
NM_001739.2(CA5A):c.555+16G>T
|
|
|
|
NM_001739.2(CA5A):c.555+19G>A
|
|
|
|
NM_001739.2(CA5A):c.556C>G (p.Leu186Val)
|
rs375321548
|
|
|
NM_001739.2(CA5A):c.558C>T (p.Leu186=)
|
|
|
|
NM_001739.2(CA5A):c.588G>C (p.Leu196=)
|
rs2055884463
|
|
|
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
|
rs769123644
|
|
|
NM_001739.2(CA5A):c.601C>A (p.Pro201Thr)
|
|
|
|
NM_001739.2(CA5A):c.603G>A (p.Pro201=)
|
|
|
|
NM_001739.2(CA5A):c.618+10A>G
|
|
|
|
NM_001739.2(CA5A):c.618+16G>C
|
|
|
|
NM_001739.2(CA5A):c.636G>A (p.Met212Ile)
|
|
|
|
NM_001739.2(CA5A):c.643T>A (p.Phe215Ile)
|
|
|
|
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
|
rs370816330
|
|
|
NM_001739.2(CA5A):c.647A>C (p.Asp216Ala)
|
|
|
|
NM_001739.2(CA5A):c.664C>T (p.Pro222Ser)
|
|
|
|
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
|
rs1280675833
|
|
|
NM_001739.2(CA5A):c.683G>A (p.Trp228Ter)
|
|
|
|
NM_001739.2(CA5A):c.699G>A (p.Ser233=)
|
|
|
|
NM_001739.2(CA5A):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_001739.2(CA5A):c.711G>A (p.Pro237=)
|
|
|
|
NM_001739.2(CA5A):c.720C>T (p.Thr240=)
|
|
|
|
NM_001739.2(CA5A):c.732C>G (p.Thr244=)
|
|
|
|
NM_001739.2(CA5A):c.734G>A (p.Trp245Ter)
|
|
|
|
NM_001739.2(CA5A):c.744G>T (p.Gln248His)
|
rs1240080247
|
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
|
NM_001739.2(CA5A):c.774+13C>T
|
|
|
|
NM_001739.2(CA5A):c.774G>C (p.Gln258His)
|
|
|
|
NM_001739.2(CA5A):c.775-10T>A
|
|
|
|
NM_001739.2(CA5A):c.77G>A (p.Arg26His)
|
|
|
|
NM_001739.2(CA5A):c.782C>T (p.Ala261Val)
|
|
|
|
NM_001739.2(CA5A):c.787C>T (p.Arg263Cys)
|
|
|
|
NM_001739.2(CA5A):c.819G>A (p.Glu273=)
|
rs2143888655
|
|
|
NM_001739.2(CA5A):c.81G>A (p.Ser27=)
|
|
|
|
NM_001739.2(CA5A):c.846C>T (p.Arg282=)
|
rs767556079
|
|
|
NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu)
|
rs2143888447
|
|
|
NM_001739.2(CA5A):c.852T>G (p.Leu284=)
|
|
|
|
NM_001739.2(CA5A):c.867C>T (p.Asn289=)
|
|
|
|
NM_001739.2(CA5A):c.868C>T (p.Arg290Trp)
|
|
|
|
NM_001739.2(CA5A):c.885C>T (p.Ser295=)
|
|
|
|
NM_001739.2(CA5A):c.89C>G (p.Pro30Arg)
|
rs533233634
|
|
|
NM_001739.2(CA5A):c.917A>G (p.Ter306Trp)
|
|
|
|
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr)
|
rs2106111068
|
|
|
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter)
|
rs1698314043
|
|
|
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
|
|
|
|
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)
|
|
|
|
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_001875.5(CPS1):c.1020C>T (p.Ala340=)
|
rs1398138189
|
|
|
NM_001875.5(CPS1):c.1026C>A (p.Asp342Glu)
|
|
|
|
NM_001875.5(CPS1):c.1028A>G (p.Asn343Ser)
|
|
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
|
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)
|
rs1047883
|
|
|
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser)
|
rs113394579
|
|
|
NM_001875.5(CPS1):c.1031C>T (p.Thr344Ile)
|
|
|
|
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)
|
|
|
|
NM_001875.5(CPS1):c.1038T>G (p.Pro346=)
|
rs2106111216
|
|
|
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)
|
rs1574520391
|
|
|
NM_001875.5(CPS1):c.105C>A (p.Gly35=)
|
|
|
|
NM_001875.5(CPS1):c.1065T>C (p.Asn355=)
|
rs1698317663
|
|
|
NM_001875.5(CPS1):c.1086+14A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+17A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+18A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+19C>A
|
|
|
|
NM_001875.5(CPS1):c.1086+1G>A
|
rs1553511326
|
|
|
NM_001875.5(CPS1):c.1086+9T>C
|
rs2106111329
|
|
|
NM_001875.5(CPS1):c.1087-12T>C
|
|
|
|
NM_001875.5(CPS1):c.1087-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1087-20C>T
|
|
|
|
NM_001875.5(CPS1):c.1087-9T>C
|
rs2106113002
|
|
|
NM_001875.5(CPS1):c.108C>T (p.Ile36=)
|
|
|
|
NM_001875.5(CPS1):c.1098T>C (p.His366=)
|
rs1363275376
|
|
|
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)
|
|
|
|
NM_001875.5(CPS1):c.1101G>A (p.Glu367=)
|
rs975444103
|
|
|
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)
|
rs149107897
|
|
|
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)
|
|
|
|
NM_001875.5(CPS1):c.1110del (p.Phe371fs)
|
rs1698355880
|
|
|
NM_001875.5(CPS1):c.1112del (p.Phe371fs)
|
rs2106113137
|
|
|
NM_001875.5(CPS1):c.1122G>T (p.Val374=)
|
|
|
|
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala)
|
rs2106113219
|
|
|
NM_001875.5(CPS1):c.1140C>A (p.Val380=)
|
|
|
|
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del)
|
rs1698357897
|
|
|
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)
|
|
|
|
NM_001875.5(CPS1):c.114C>T (p.Leu38=)
|
|
|
|
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr)
|
rs2106113248
|
|
|
NM_001875.5(CPS1):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_001875.5(CPS1):c.1155A>C (p.Ile385=)
|
rs2106113282
|
|
|
NM_001875.5(CPS1):c.1161T>A (p.Thr387=)
|
|
|
|
NM_001875.5(CPS1):c.1161T>C (p.Thr387=)
|
|
|
|
NM_001875.5(CPS1):c.1164+12del
|
|
|
|
NM_001875.5(CPS1):c.1164+13G>C
|
|
|
|
NM_001875.5(CPS1):c.1164+16G>C
|
|
|
|
NM_001875.5(CPS1):c.1164+1G>A
|
|
|
|
NM_001875.5(CPS1):c.1164+20C>A
|
|
|
|
NM_001875.5(CPS1):c.1164+3A>G
|
|
|
|
NM_001875.5(CPS1):c.1164+5G>A
|
|
|
|
NM_001875.5(CPS1):c.1164+9A>G
|
|
|
|
NM_001875.5(CPS1):c.1165-10T>C
|
rs1698417211
|
|
|
NM_001875.5(CPS1):c.1165-13T>A
|
|
|
|
NM_001875.5(CPS1):c.1165-13T>C
|
|
|
|
NM_001875.5(CPS1):c.1165-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1165-17G>A
|
rs2106116257
|
|
|
NM_001875.5(CPS1):c.1165-18G>A
|
|
|
|
NM_001875.5(CPS1):c.1165-2A>G
|
rs1305369403
|
|
|
NM_001875.5(CPS1):c.1165-6T>C
|
|
|
|
NM_001875.5(CPS1):c.1170G>C (p.Leu390=)
|
rs2106116338
|
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
|
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)
|
|
|
|
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
|
|
|
|
NM_001875.5(CPS1):c.1197del (p.Gly401fs)
|
|
|
|
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)
|
|
|
|
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
|
|
|
|
NM_001875.5(CPS1):c.1209T>A (p.Ala403=)
|
rs2106116420
|
|
|
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)
|
|
|
|
NM_001875.5(CPS1):c.1233G>A (p.Pro411=)
|
|
|
|
NM_001875.5(CPS1):c.1233G>T (p.Pro411=)
|
|
|
|
NM_001875.5(CPS1):c.1242A>C (p.Ala414=)
|
rs748923975
|
|
|
NM_001875.5(CPS1):c.1242A>G (p.Ala414=)
|
|
|
|
NM_001875.5(CPS1):c.1251A>G (p.Ala417=)
|
|
|
|
NM_001875.5(CPS1):c.125del (p.Lys42fs)
|
|
|
|
NM_001875.5(CPS1):c.126+10A>G
|
|
|
|
NM_001875.5(CPS1):c.126+12A>G
|
|
|
|
NM_001875.5(CPS1):c.126+13T>C
|
|
|
|
NM_001875.5(CPS1):c.126+16A>G
|
|
|
|
NM_001875.5(CPS1):c.126+17T>C
|
|
|
|
NM_001875.5(CPS1):c.126+19G>T
|
|
|
|
NM_001875.5(CPS1):c.126+7C>T
|
|
|
|
NM_001875.5(CPS1):c.1263+12G>C
|
|
|
|
NM_001875.5(CPS1):c.1263+13del
|
|
|
|
NM_001875.5(CPS1):c.1263+14C>G
|
|
|
|
NM_001875.5(CPS1):c.1263+17A>T
|
|
|
|
NM_001875.5(CPS1):c.1263+8T>A
|
|
|
|
NM_001875.5(CPS1):c.1263+8TG[4]
|
rs1553511697
|
|
|
NM_001875.5(CPS1):c.1264-10T>C
|
rs2106118113
|
|
|
NM_001875.5(CPS1):c.1264-15T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-17T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-19T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-1G>T
|
|
|
|
NM_001875.5(CPS1):c.1264-3T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-4A>G
|
|
|
|
NM_001875.5(CPS1):c.1264-6T>G
|
|
|
|
NM_001875.5(CPS1):c.127-13A>C
|
rs1553508991
|
|
|
NM_001875.5(CPS1):c.127-16G>T
|
|
|
|
NM_001875.5(CPS1):c.127-17T>C
|
|
|
|
NM_001875.5(CPS1):c.127-2A>G
|
|
|
|
NM_001875.5(CPS1):c.127-6C>G
|
|
|
|
NM_001875.5(CPS1):c.127-6C>T
|
|
|
|
NM_001875.5(CPS1):c.127-7T>C
|
rs2106073173
|
|
|
NM_001875.5(CPS1):c.1272A>G (p.Lys424=)
|
|
|
|
NM_001875.5(CPS1):c.1282C>T (p.Leu428=)
|
rs1574567820
|
|
|
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)
|
|
|
|
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)
|
|
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
|
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg)
|
rs2106118268
|
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
|
NM_001875.5(CPS1):c.1344T>C (p.Ala448=)
|
rs2106118315
|
|
|
NM_001875.5(CPS1):c.1347A>C (p.Val449=)
|
rs1298255125
|
|
|
NM_001875.5(CPS1):c.1347A>G (p.Val449=)
|
rs1298255125
|
|
|
NM_001875.5(CPS1):c.1359+17C>G
|
|
|
|
NM_001875.5(CPS1):c.1359+7G>C
|
|
|
|
NM_001875.5(CPS1):c.1359+8A>G
|
|
|
|
NM_001875.5(CPS1):c.1359+9A>G
|
|
|
|
NM_001875.5(CPS1):c.135A>G (p.Thr45=)
|
|
|
|
NM_001875.5(CPS1):c.1360-11G>A
|
|
|
|
NM_001875.5(CPS1):c.1360-11G>C
|
|
|
|
NM_001875.5(CPS1):c.1360-16C>A
|
|
|
|
NM_001875.5(CPS1):c.1360-17T>C
|
|
|
|
NM_001875.5(CPS1):c.1360-1G>C
|
|
|
|
NM_001875.5(CPS1):c.1360-7_1360-6del
|
|
|
|
NM_001875.5(CPS1):c.1360-8T>C
|
|
|
|
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)
|
rs371350538
|
|
|
NM_001875.5(CPS1):c.1371C>G (p.Val457=)
|
rs1698623665
|
|
|
NM_001875.5(CPS1):c.1376del (p.Thr459fs)
|
|
|
|
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
|
|
|
|
NM_001875.5(CPS1):c.1381C>T (p.Leu461=)
|
|
|
|
NM_001875.5(CPS1):c.1383G>A (p.Leu461=)
|
|
|
|
NM_001875.5(CPS1):c.138A>G (p.Ala46=)
|
|
|
|
NM_001875.5(CPS1):c.1398T>C (p.Ile466=)
|
|
|
|
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)
|
|
|
|
NM_001875.5(CPS1):c.1401A>T (p.Ala467=)
|
rs769809767
|
|
|
NM_001875.5(CPS1):c.1404A>C (p.Ser468=)
|
rs1574573024
|
|
|
NM_001875.5(CPS1):c.1407C>G (p.Val469=)
|
rs1574573037
|
|
|
NM_001875.5(CPS1):c.1413C>T (p.Thr471=)
|
|
|
|
NM_001875.5(CPS1):c.141C>T (p.His47=)
|
rs2106073214
|
|
|
NM_001875.5(CPS1):c.1424del (p.Gly475fs)
|
rs1375157321
|
|
|
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)
|
|
|
|
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)
|
rs2106126181
|
|
|
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
|
|
|
|
NM_001875.5(CPS1):c.1440T>C (p.Asp480=)
|
|
|
|
NM_001875.5(CPS1):c.1446C>G (p.Val482=)
|
rs1427789805
|
|
|
NM_001875.5(CPS1):c.1446C>T (p.Val482=)
|
rs1427789805
|
|
|
NM_001875.5(CPS1):c.144T>C (p.Ile48=)
|
|
|
|
NM_001875.5(CPS1):c.1452T>C (p.Phe484=)
|
rs1698629346
|
|
|
NM_001875.5(CPS1):c.1458C>A (p.Pro486=)
|
rs758089312
|
|
|
NM_001875.5(CPS1):c.1468C>T (p.Gln490Ter)
|
rs777614848
|
|
|
NM_001875.5(CPS1):c.1473T>C (p.Phe491=)
|
rs2106126359
|
|
|
NM_001875.5(CPS1):c.147C>G (p.Val49=)
|
rs1574540092
|
|
|
NM_001875.5(CPS1):c.147C>T (p.Val49=)
|
|
|
|
NM_001875.5(CPS1):c.1491G>A (p.Lys497=)
|
|
|
|
NM_001875.5(CPS1):c.1509G>T (p.Gly503=)
|
|
|
|
NM_001875.5(CPS1):c.1509del (p.Gly503_Leu504insTer)
|
rs2106126478
|
|
|
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
|
rs1255335680
|
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
|
NM_001875.5(CPS1):c.1530C>A (p.Gly510=)
|
|
|
|
NM_001875.5(CPS1):c.1536A>G (p.Thr512=)
|
|
|
|
NM_001875.5(CPS1):c.1540C>T (p.Leu514=)
|
rs890185470
|
|
|
NM_001875.5(CPS1):c.1549+11A>C
|
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
|
NM_001875.5(CPS1):c.1549+1G>T
|
rs774484322
|
|
|
NM_001875.5(CPS1):c.1550-12G>A
|
|
|
|
NM_001875.5(CPS1):c.1550-12G>C
|
|
|
|
NM_001875.5(CPS1):c.1550-12G>T
|
|
|
|
NM_001875.5(CPS1):c.1550-15T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-20C>T
|
|
|
|
NM_001875.5(CPS1):c.1550-4T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-5T>G
|
|
|
|
NM_001875.5(CPS1):c.1550-6C>G
|
|
|
|
NM_001875.5(CPS1):c.1550-9C>T
|
rs768654576
|
|
|
NM_001875.5(CPS1):c.1551A>C (p.Gly517=)
|
|
|
|
NM_001875.5(CPS1):c.1561T>C (p.Phe521Leu)
|
rs1698684090
|
|
|
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys)
|
rs2105840290
|
|
|
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)
|
|
|
|
NM_001875.5(CPS1):c.1596del (p.Val533fs)
|
|
|
|
NM_001875.5(CPS1):c.1623T>C (p.Ile541=)
|
rs1698686885
|
|
|
NM_001875.5(CPS1):c.1638C>T (p.Asp546=)
|
rs1326614424
|
|
|
NM_001875.5(CPS1):c.1647G>A (p.Leu549=)
|
|
|
|
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
|
rs1016767752
|
|
|
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)
|
|
|
|
NM_001875.5(CPS1):c.1665T>C (p.Asn555=)
|
rs745650408
|
|
|
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)
|
|
|
|
NM_001875.5(CPS1):c.1683T>C (p.Ile561=)
|
|
|
|
NM_001875.5(CPS1):c.1686T>C (p.Ala562=)
|
rs1574575327
|
|
|
NM_001875.5(CPS1):c.1689A>C (p.Pro563=)
|
|
|
|
NM_001875.5(CPS1):c.1689A>T (p.Pro563=)
|
rs768681752
|
|
|
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)
|
|
|
|
NM_001875.5(CPS1):c.1698A>G (p.Ala566=)
|
rs2105840611
|
|
|
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)
|
|
|
|
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
|
|
|
|
NM_001875.5(CPS1):c.1707+11T>C
|
|
|
|
NM_001875.5(CPS1):c.1707+20G>A
|
|
|
|
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
|
|
|
|
NM_001875.5(CPS1):c.1708-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1708-5G>C
|
rs571670790
|
|
|
NM_001875.5(CPS1):c.1708-6T>C
|
|
|
|
NM_001875.5(CPS1):c.1708-7T>A
|
|
|
|
NM_001875.5(CPS1):c.1708-7T>C
|
|
|
|
NM_001875.5(CPS1):c.1720C>T (p.Leu574=)
|
|
|
|
NM_001875.5(CPS1):c.1722G>A (p.Leu574=)
|
|
|
|
NM_001875.5(CPS1):c.1737C>A (p.Thr579=)
|
|
|
|
NM_001875.5(CPS1):c.1737C>T (p.Thr579=)
|
|
|
|
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
|
|
|
|
NM_001875.5(CPS1):c.174T>C (p.Gly58=)
|
|
|
|
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
|
rs1698751783
|
|
|
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
|
|
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
|
NM_001875.5(CPS1):c.1764C>A (p.Ser588=)
|
rs374071271
|
|
|
NM_001875.5(CPS1):c.1770T>C (p.Tyr590=)
|
|
|
|
NM_001875.5(CPS1):c.1773A>G (p.Ala591=)
|
|
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
|
NM_001875.5(CPS1):c.177C>T (p.Tyr59=)
|
rs1390730716
|
|
|
NM_001875.5(CPS1):c.1782G>T (p.Gly594=)
|
rs200968000
|
|
|
NM_001875.5(CPS1):c.1791A>G (p.Ser597=)
|
|
|
|
NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)
|
|
|
|
NM_001875.5(CPS1):c.1803C>G (p.Pro601=)
|
rs2105843106
|
|
|
NM_001875.5(CPS1):c.1809A>G (p.Arg603=)
|
|
|
|
NM_001875.5(CPS1):c.1815T>A (p.Thr605=)
|
rs1698755276
|
|
|
NM_001875.5(CPS1):c.1815T>C (p.Thr605=)
|
|
|
|
NM_001875.5(CPS1):c.1815T>G (p.Thr605=)
|
rs1698755276
|
|
|
NM_001875.5(CPS1):c.1816T>C (p.Leu606=)
|
rs1355862440
|
|
|
NM_001875.5(CPS1):c.1827C>T (p.Leu609=)
|
rs1574577723
|
|
|
NM_001875.5(CPS1):c.1830C>T (p.Ser610=)
|
rs2105843159
|
|
|
NM_001875.5(CPS1):c.1836+11T>C
|
|
|
|
NM_001875.5(CPS1):c.1836+13G>A
|
rs1239037348
|
|
|
NM_001875.5(CPS1):c.1836+14T>A
|
rs2105843197
|
|
|
NM_001875.5(CPS1):c.1836+16G>C
|
|
|
|
NM_001875.5(CPS1):c.1836+2T>C
|
rs1574577755
|
|
|
NM_001875.5(CPS1):c.1836+8T>G
|
|
|
|
NM_001875.5(CPS1):c.1837-13C>T
|
|
|
|
NM_001875.5(CPS1):c.1837-14T>C
|
|
|
|
NM_001875.5(CPS1):c.1837-20C>A
|
|
|
|
NM_001875.5(CPS1):c.1837-4C>A
|
rs2105847166
|
|
|
NM_001875.5(CPS1):c.1837-9A>G
|
|
|
|
NM_001875.5(CPS1):c.1839C>T (p.Ala613=)
|
|
|
|
NM_001875.5(CPS1):c.1846A>G (p.Met616Val)
|
|
|
|
NM_001875.5(CPS1):c.1854C>T (p.Asn618=)
|
rs1329765894
|
|
|
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro)
|
rs2105847240
|
|
|
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)
|
rs1553512962
|
|
|
NM_001875.5(CPS1):c.186C>A (p.Gly62=)
|
|
|
|
NM_001875.5(CPS1):c.1875A>C (p.Ser625=)
|
rs1698860002
|
|
|
NM_001875.5(CPS1):c.1881A>G (p.Thr627=)
|
|
|
|
NM_001875.5(CPS1):c.1891G>T (p.Glu631Ter)
|
|
|
|
NM_001875.5(CPS1):c.1893A>G (p.Glu631=)
|
rs2105847319
|
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
|
NM_001875.5(CPS1):c.1899A>G (p.Glu633=)
|
|
|
|
NM_001875.5(CPS1):c.18A>G (p.Thr6=)
|
|
|
|
NM_001875.5(CPS1):c.1908G>T (p.Val636=)
|
|
|
|
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)
|
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
|
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
|
|
|
|
NM_001875.5(CPS1):c.1923T>C (p.Asp641=)
|
rs149489502
|
|
|
NM_001875.5(CPS1):c.1926C>T (p.Asp642=)
|
rs1574581538
|
|
|
NM_001875.5(CPS1):c.192A>G (p.Pro64=)
|
|
|
|
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
|
|
|
|
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
|
|
|
|
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
|
|
|
|
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)
|
|
|
|
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)
|
|
|
|
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)
|
rs1698865403
|
|
|
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
|
|
|
|
NM_001875.5(CPS1):c.1959T>C (p.Val653=)
|
rs1698865843
|
|
|
NM_001875.5(CPS1):c.1962T>C (p.Asp654=)
|
|
|
|
NM_001875.5(CPS1):c.1965C>T (p.Ala655=)
|
rs2105847501
|
|
|
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)
|
|
|
|
NM_001875.5(CPS1):c.1970del (p.Gly657fs)
|
|
|
|
NM_001875.5(CPS1):c.1981+12A>G
|
|
|
|
NM_001875.5(CPS1):c.1981+14C>T
|
|
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
|
NM_001875.5(CPS1):c.1981+20G>C
|
|
|
|
NM_001875.5(CPS1):c.1981+7A>C
|
rs185758505
|
|
|
NM_001875.5(CPS1):c.1981+7A>G
|
rs185758505
|
|
|
NM_001875.5(CPS1):c.1981+9A>T
|
rs2105847580
|
|
|
NM_001875.5(CPS1):c.1982-10G>T
|
rs2105849819
|
|
|
NM_001875.5(CPS1):c.1982-12T>C
|
|
|
|
NM_001875.5(CPS1):c.1982-16C>T
|
|
|
|
NM_001875.5(CPS1):c.1982-18T>C
|
|
|
|
NM_001875.5(CPS1):c.1982-19G>C
|
|
|
|
NM_001875.5(CPS1):c.1982-4A>G
|
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
|
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp)
|
rs2105849848
|
|
|
NM_001875.5(CPS1):c.1992T>G (p.Val664=)
|
|
|
|
NM_001875.5(CPS1):c.1995T>C (p.Val665=)
|
rs770854846
|
|
|
NM_001875.5(CPS1):c.2007C>A (p.Ala669=)
|
rs2105849900
|
|
|
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
|
rs1698926726
|
|
|
NM_001875.5(CPS1):c.2013A>G (p.Thr671=)
|
|
|
|
NM_001875.5(CPS1):c.2016C>G (p.Leu672=)
|
|
|
|
NM_001875.5(CPS1):c.2028G>A (p.Glu676=)
|
|
|
|
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
|
|
|
|
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)
|
|
|
|
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
|
|
|
|
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter)
|
rs1698929326
|
|
|
NM_001875.5(CPS1):c.2052A>T (p.Ser684=)
|
|
|
|
NM_001875.5(CPS1):c.2058T>C (p.Asn686=)
|
|
|
|
NM_001875.5(CPS1):c.2064T>C (p.Val688=)
|
rs2105850060
|
|
|
NM_001875.5(CPS1):c.2064T>G (p.Val688=)
|
rs2105850060
|
|
|
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)
|
|
|
|
NM_001875.5(CPS1):c.2100G>A (p.Gln700=)
|
rs1698931117
|
|
|
NM_001875.5(CPS1):c.2103T>C (p.Phe701=)
|
rs1361109371
|
|
|
NM_001875.5(CPS1):c.2109T>G (p.Leu703=)
|
|
|
|
NM_001875.5(CPS1):c.2114C>G (p.Pro705Arg)
|
|
|
|
NM_001875.5(CPS1):c.2118C>T (p.Thr706=)
|
|
|
|
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg)
|
rs1244823608
|
|
|
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
|
|
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
|
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs)
|
rs2105850258
|
|
|
NM_001875.5(CPS1):c.2181A>C (p.Ser727=)
|
|
|
|
NM_001875.5(CPS1):c.2184A>G (p.Lys728=)
|
rs1574584352
|
|
|
NM_001875.5(CPS1):c.2187C>T (p.Ala729=)
|
rs2105850303
|
|
|
NM_001875.5(CPS1):c.2190T>C (p.Thr730=)
|
|
|
|
NM_001875.5(CPS1):c.2192+10G>C
|
rs2105850342
|
|
|
NM_001875.5(CPS1):c.2192+11A>G
|
|
|
|
NM_001875.5(CPS1):c.2192+7C>T
|
|
|
|
NM_001875.5(CPS1):c.2192+8C>G
|
|
|
|
NM_001875.5(CPS1):c.2192+9A>G
|
|
|
|
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)
|
|
|
|
NM_001875.5(CPS1):c.2193-13C>G
|
|
|
|
NM_001875.5(CPS1):c.2193-14T>A
|
rs569836557
|
|
|
NM_001875.5(CPS1):c.2193-14T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-16T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-17T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-18T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-5T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-6T>G
|
|
|
|
NM_001875.5(CPS1):c.2196C>T (p.Tyr732=)
|
|
|
|
NM_001875.5(CPS1):c.2199A>G (p.Pro733=)
|
rs780079490
|
|
|
NM_001875.5(CPS1):c.2200T>C (p.Leu734=)
|
rs1297131870
|
|
|
NM_001875.5(CPS1):c.2205A>T (p.Ala735=)
|
|
|
|
NM_001875.5(CPS1):c.2208C>T (p.Phe736=)
|
|
|
|
NM_001875.5(CPS1):c.2217A>C (p.Ala739=)
|
|
|
|
NM_001875.5(CPS1):c.2217A>G (p.Ala739=)
|
rs1698996365
|
|
|
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)
|
|
|
|
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)
|
|
|
|
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
|
|
|
|
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)
|
|
|
|
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
|
|
|
|
NM_001875.5(CPS1):c.2262A>G (p.Val754=)
|
|
|
|
NM_001875.5(CPS1):c.2265C>A (p.Ser755=)
|
rs41272667
|
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
|
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
|
|
|
|
NM_001875.5(CPS1):c.2271G>A (p.Lys757=)
|
rs2105852726
|
|
|
NM_001875.5(CPS1):c.2274A>G (p.Thr758=)
|
|
|
|
NM_001875.5(CPS1):c.2277A>G (p.Ser759=)
|
rs2105852746
|
|
|
NM_001875.5(CPS1):c.228C>G (p.Gly76=)
|
rs1450875442
|
|
|
NM_001875.5(CPS1):c.2301T>C (p.Asp767=)
|
rs2105852796
|
|
|
NM_001875.5(CPS1):c.2316G>A (p.Lys772=)
|
rs1574586633
|
|
|
NM_001875.5(CPS1):c.2322C>A (p.Pro774=)
|
rs1445208216
|
|
|
NM_001875.5(CPS1):c.2324G>A (p.Arg775His)
|
rs766970243
|
|
|
NM_001875.5(CPS1):c.2334T>C (p.Leu778=)
|
rs2105852851
|
|
|
NM_001875.5(CPS1):c.2334T>G (p.Leu778=)
|
rs2105852851
|
|
|
NM_001875.5(CPS1):c.2337C>T (p.Asp779=)
|
|
|
|
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)
|
rs1699003909
|
|
|
NM_001875.5(CPS1):c.236+18A>G
|
|
|
|
NM_001875.5(CPS1):c.236+5G>A
|
rs1553509024
|
|
|
NM_001875.5(CPS1):c.2361A>G (p.Arg787=)
|
|
|
|
NM_001875.5(CPS1):c.237-12A>G
|
|
|
|
NM_001875.5(CPS1):c.237-14G>A
|
|
|
|
NM_001875.5(CPS1):c.237-4C>T
|
rs777273892
|
|
|
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
|
|
|
|
NM_001875.5(CPS1):c.2375del (p.Met792fs)
|
rs1699004800
|
|
|
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile)
|
rs1553513429
|
|
|
NM_001875.5(CPS1):c.237G>A (p.Gly79=)
|
rs770681923
|
|
|
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile)
|
rs1247456569
|
|
|
NM_001875.5(CPS1):c.2382T>C (p.Ser794=)
|
|
|
|
NM_001875.5(CPS1):c.2391+10del
|
|
|
|
NM_001875.5(CPS1):c.2391+11G>A
|
|
|
|
NM_001875.5(CPS1):c.2391+11G>T
|
|
|
|
NM_001875.5(CPS1):c.2391+12G>A
|
|
|
|
NM_001875.5(CPS1):c.2391+12G>C
|
|
|
|
NM_001875.5(CPS1):c.2391+12_2391+21del
|
|
|
|
NM_001875.5(CPS1):c.2391+17T>C
|
|
|
|
NM_001875.5(CPS1):c.2391+18T>C
|
|
|
|
NM_001875.5(CPS1):c.2391+1G>T
|
rs1553513433
|
|
|
NM_001875.5(CPS1):c.2392-11A>G
|
|
|
|
NM_001875.5(CPS1):c.2392-17T>C
|
|
|
|
NM_001875.5(CPS1):c.2392-19T>G
|
|
|
|
NM_001875.5(CPS1):c.2392-20G>A
|
|
|
|
NM_001875.5(CPS1):c.2403T>C (p.Ile801=)
|
rs2105858988
|
|
|
NM_001875.5(CPS1):c.2403dup (p.Gly802fs)
|
rs2105858978
|
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2408dup (p.Thr804fs)
|
rs2105859007
|
|
|
NM_001875.5(CPS1):c.2412C>T (p.Thr804=)
|
rs2105859014
|
|
|
NM_001875.5(CPS1):c.2415T>C (p.Phe805=)
|
rs1553513861
|
|
|
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)
|
rs1553513864
|
|
|
NM_001875.5(CPS1):c.243A>C (p.Pro81=)
|
|
|
|
NM_001875.5(CPS1):c.243A>G (p.Pro81=)
|
rs2106079420
|
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
|
NM_001875.5(CPS1):c.2446del (p.Cys816fs)
|
rs2105859077
|
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
|
NM_001875.5(CPS1):c.2463A>G (p.Glu821=)
|
|
|
|
NM_001875.5(CPS1):c.2469C>T (p.Phe823=)
|
rs1264691798
|
|
|
NM_001875.5(CPS1):c.2470_2482del (p.Thr824fs)
|
rs2105859138
|
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
|
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)
|
|
|
|
NM_001875.5(CPS1):c.2477del (p.Arg826fs)
|
|
|
|
NM_001875.5(CPS1):c.2481C>T (p.Leu827=)
|
rs1699152712
|
|
|
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
|
|
|
|
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)
|
|
|
|
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)
|
|
|
|
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)
|
|
|
|
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
|
|
|
|
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)
|
|
|
|
NM_001875.5(CPS1):c.2525del (p.Glu842fs)
|
|
|
|
NM_001875.5(CPS1):c.2526G>A (p.Glu842=)
|
|
|
|
NM_001875.5(CPS1):c.2532T>G (p.Ser844=)
|
|
|
|
NM_001875.5(CPS1):c.2546C>T (p.Thr849Met)
|
|
|
|
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
|
|
|
|
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
|
rs770250368
|
|
|
NM_001875.5(CPS1):c.2553C>A (p.Ile851=)
|
|
|
|
NM_001875.5(CPS1):c.2553C>G (p.Ile851Met)
|
|
|
|
NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)
|
|
|
|
NM_001875.5(CPS1):c.255T>C (p.Thr85=)
|
rs2106079439
|
|
|
NM_001875.5(CPS1):c.2568+18G>C
|
|
|
|
NM_001875.5(CPS1):c.2568+1G>A
|
|
|
|
NM_001875.5(CPS1):c.2568+21del
|
|
|
|
NM_001875.5(CPS1):c.2569-10C>T
|
|
|
|
NM_001875.5(CPS1):c.2569-18C>A
|
|
|
|
NM_001875.5(CPS1):c.2569-18C>G
|
|
|
|
NM_001875.5(CPS1):c.2569-20A>G
|
|
|
|
NM_001875.5(CPS1):c.2569-4G>A
|
rs2105865945
|
|
|
NM_001875.5(CPS1):c.2569-6T>G
|
rs2105865940
|
|
|
NM_001875.5(CPS1):c.2569-7T>C
|
|
|
|
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
|
|
|
|
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
|
|
|
|
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)
|
|
|
|
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)
|
rs1233577562
|
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
|
NM_001875.5(CPS1):c.2607G>A (p.Lys869=)
|
|
|
|
NM_001875.5(CPS1):c.2613A>G (p.Thr871=)
|
|
|
|
NM_001875.5(CPS1):c.2616C>T (p.Tyr872=)
|
rs1699309581
|
|
|
NM_001875.5(CPS1):c.261T>A (p.Pro87=)
|
|
|
|
NM_001875.5(CPS1):c.261T>C (p.Pro87=)
|
|
|
|
NM_001875.5(CPS1):c.2625G>A (p.Lys875=)
|
|
|
|
NM_001875.5(CPS1):c.2634del (p.Leu878fs)
|
rs1699310540
|
|
|
NM_001875.5(CPS1):c.2640G>A (p.Lys880=)
|
|
|
|
NM_001875.5(CPS1):c.2645G>A (p.Arg882His)
|
|
|
|
NM_001875.5(CPS1):c.264C>T (p.Ala88=)
|
|
|
|
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
|
|
|
|
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu)
|
rs1699312076
|
|
|
NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)
|
|
|
|
NM_001875.5(CPS1):c.2687+10T>C
|
|
|
|
NM_001875.5(CPS1):c.2687+11G>A
|
|
|
|
NM_001875.5(CPS1):c.2687+14G>A
|
|
|
|
NM_001875.5(CPS1):c.2687+16T>G
|
|
|
|
NM_001875.5(CPS1):c.2687+17C>T
|
|
|
|
NM_001875.5(CPS1):c.2687+19C>A
|
|
|
|
NM_001875.5(CPS1):c.2687+20A>C
|
|
|
|
NM_001875.5(CPS1):c.2687+7C>T
|
|
|
|
NM_001875.5(CPS1):c.2687+9G>C
|
rs377094467
|
|
|
NM_001875.5(CPS1):c.2688-11T>C
|
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2688-12A>T
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2688-16T>C
|
rs2105895298
|
|
|
NM_001875.5(CPS1):c.2688-5C>T
|
rs1700078975
|
|
|
NM_001875.5(CPS1):c.2688-6T>C
|
rs2105895311
|
|
|
NM_001875.5(CPS1):c.2691G>A (p.Glu897=)
|
|
|
|
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr)
|
rs1700079203
|
|
|
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)
|
|
|
|
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)
|
rs774243804
|
|
|
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu)
|
rs1700081346
|
|
|
NM_001875.5(CPS1):c.2720del (p.Ala907fs)
|
|
|
|
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)
|
|
|
|
NM_001875.5(CPS1):c.273A>G (p.Gly91=)
|
|
|
|
NM_001875.5(CPS1):c.2747del (p.Gln916fs)
|
|
|
|
NM_001875.5(CPS1):c.2748G>A (p.Gln916=)
|
rs758815468
|
|
|
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
|
|
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
|
NM_001875.5(CPS1):c.2784A>G (p.Thr928=)
|
|
|
|
NM_001875.5(CPS1):c.2796G>A (p.Arg932=)
|
rs2105895536
|
|
|
NM_001875.5(CPS1):c.27A>G (p.Lys9=)
|
|
|
|
NM_001875.5(CPS1):c.2808C>T (p.Asn936=)
|
|
|
|
NM_001875.5(CPS1):c.2817T>C (p.Pro939=)
|
|
|
|
NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter)
|
rs1446095060
|
|
|
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg)
|
rs1697713175
|
|
|
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)
|
|
|
|
NM_001875.5(CPS1):c.2829+14C>G
|
|
|
|
NM_001875.5(CPS1):c.2829+15C>T
|
|
|
|
NM_001875.5(CPS1):c.2829+6G>A
|
|
|
|
NM_001875.5(CPS1):c.2829+8A>T
|
|
|
|
NM_001875.5(CPS1):c.2830-14G>A
|
|
|
|
NM_001875.5(CPS1):c.2830-14G>C
|
|
|
|
NM_001875.5(CPS1):c.2830-19T>C
|
rs1553516321
|
|
|
NM_001875.5(CPS1):c.2830-1G>C
|
|
|
|
NM_001875.5(CPS1):c.2830-1G>T
|
rs1700129715
|
|
|
NM_001875.5(CPS1):c.2830-20T>G
|
|
|
|
NM_001875.5(CPS1):c.2830-5T>A
|
rs2105897309
|
|
|
NM_001875.5(CPS1):c.2835T>C (p.Asp945=)
|
|
|
|
NM_001875.5(CPS1):c.2838A>T (p.Thr946=)
|
|
|
|
NM_001875.5(CPS1):c.2839C>T (p.Leu947=)
|
rs1275836824
|
|
|
NM_001875.5(CPS1):c.2856A>G (p.Pro952=)
|
|
|
|
NM_001875.5(CPS1):c.2868C>T (p.Asn956=)
|
|
|
|
NM_001875.5(CPS1):c.2871T>C (p.Tyr957=)
|
|
|
|
NM_001875.5(CPS1):c.2876_2877del (p.Tyr959fs)
|
rs1296603906
|
|
|
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)
|
|
|
|
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His)
|
rs1700131234
|
|
|
NM_001875.5(CPS1):c.2895+11G>C
|
|
|
|
NM_001875.5(CPS1):c.2895+16T>G
|
|
|
|
NM_001875.5(CPS1):c.2895+1G>A
|
|
|
|
NM_001875.5(CPS1):c.2895+20C>A
|
|
|
|
NM_001875.5(CPS1):c.2895+20C>T
|
|
|
|
NM_001875.5(CPS1):c.2896-12T>C
|
|
|
|
NM_001875.5(CPS1):c.2896-3del
|
|
|
|
NM_001875.5(CPS1):c.2896-9T>C
|
|
|
|
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)
|
|
|
|
NM_001875.5(CPS1):c.2920del (p.His974fs)
|
|
|
|
NM_001875.5(CPS1):c.2922T>C (p.His974=)
|
rs2105898789
|
|
|
NM_001875.5(CPS1):c.2925A>G (p.Gly975=)
|
|
|
|
NM_001875.5(CPS1):c.2934G>T (p.Val978=)
|
rs2105898803
|
|
|
NM_001875.5(CPS1):c.2940C>T (p.Gly980=)
|
rs752969364
|
|
|
NM_001875.5(CPS1):c.2946T>A (p.Gly982=)
|
rs2105898820
|
|
|
NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)
|
|
|
|
NM_001875.5(CPS1):c.2959+14T>A
|
|
|
|
NM_001875.5(CPS1):c.2959+16A>T
|
|
|
|
NM_001875.5(CPS1):c.2959+19T>G
|
|
|
|
NM_001875.5(CPS1):c.2959+5A>G
|
rs745778375
|
|
|
NM_001875.5(CPS1):c.2959+6del
|
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
|
NM_001875.5(CPS1):c.2959+9A>G
|
rs1250053139
|
|
|
NM_001875.5(CPS1):c.2959+9A>T
|
rs1250053139
|
|
|
NM_001875.5(CPS1):c.2960-10G>A
|
rs2105901496
|
|
|
NM_001875.5(CPS1):c.2960-13A>C
|
|
|
|
NM_001875.5(CPS1):c.2960-20C>T
|
|
|
|
NM_001875.5(CPS1):c.2960-9T>C
|
|
|
|
NM_001875.5(CPS1):c.2970G>A (p.Val990=)
|
rs1700256865
|
|
|
NM_001875.5(CPS1):c.2973A>G (p.Glu991=)
|
|
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
|
NM_001875.5(CPS1):c.297T>G (p.Pro99=)
|
|
|
|
NM_001875.5(CPS1):c.2991C>G (p.Val997=)
|
|
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
|
NM_001875.5(CPS1):c.2994T>G (p.Ser998=)
|
rs1574632330
|
|
|
NM_001875.5(CPS1):c.2997T>C (p.Ser999=)
|
rs766849843
|
|
|
NM_001875.5(CPS1):c.3000C>A (p.Ile1000=)
|
rs1700258062
|
|
|
NM_001875.5(CPS1):c.3007C>T (p.Leu1003=)
|
rs1700258434
|
|
|
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
|
|
|
|
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
|
|
|
|
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
|
|
|
|
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)
|
|
|
|
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)
|
|
|
|
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)
|
rs727502824
|
|
|
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)
|
|
|
|
NM_001875.5(CPS1):c.303T>G (p.Ile101Met)
|
rs1559084624
|
|
|
NM_001875.5(CPS1):c.3042T>C (p.Asn1014=)
|
rs2105901623
|
|
|
NM_001875.5(CPS1):c.3045C>T (p.Cys1015=)
|
rs376618188
|
|
|
NM_001875.5(CPS1):c.3057T>A (p.Thr1019=)
|
rs150601728
|
|
|
NM_001875.5(CPS1):c.3062G>A (p.Ser1021Asn)
|
rs2105901649
|
|
|
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu)
|
rs1559123272
|
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
|
NM_001875.5(CPS1):c.3075T>C (p.Asp1025=)
|
|
|
|
NM_001875.5(CPS1):c.3084C>T (p.Asp1028=)
|
|
|
|
NM_001875.5(CPS1):c.3088C>T (p.Leu1030=)
|
rs2105901680
|
|
|
NM_001875.5(CPS1):c.3096T>C (p.Phe1032=)
|
rs2105901699
|
|
|
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln)
|
rs1700263629
|
|
|
NM_001875.5(CPS1):c.3114G>A (p.Glu1038=)
|
rs2105901711
|
|
|
NM_001875.5(CPS1):c.3120C>T (p.Ile1040=)
|
|
|
|
NM_001875.5(CPS1):c.3126C>T (p.Asp1042=)
|
rs1358993534
|
|
|
NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)
|
|
|
|
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
|
|
|
|
NM_001875.5(CPS1):c.3141+10G>C
|
|
|
|
NM_001875.5(CPS1):c.3141+15_3141+16insG
|
|
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
|
NM_001875.5(CPS1):c.3141+16del
|
|
|
|
NM_001875.5(CPS1):c.3141+17A>T
|
|
|
|
NM_001875.5(CPS1):c.3141+18G>A
|
|
|
|
NM_001875.5(CPS1):c.3141+26del
|
|
|
|
NM_001875.5(CPS1):c.3141+26dup
|
|
|
|
NM_001875.5(CPS1):c.3141+2T>C
|
rs2105901763
|
|
|
NM_001875.5(CPS1):c.3142-17G>T
|
|
|
|
NM_001875.5(CPS1):c.3142-19T>C
|
|
|
|
NM_001875.5(CPS1):c.3142-4C>A
|
|
|
|
NM_001875.5(CPS1):c.3149G>A (p.Gly1050Asp)
|
|
|
|
NM_001875.5(CPS1):c.3151G>A (p.Gly1051Ser)
|
rs2105907837
|
|
|
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala)
|
rs1700429133
|
|
|
NM_001875.5(CPS1):c.317C>T (p.Ala106Val)
|
rs765026487
|
|
|
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=)
|
rs2105907892
|
|
|
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)
|
|
|
|
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)
|
|
|
|
NM_001875.5(CPS1):c.3204A>C (p.Leu1068=)
|
rs766909251
|
|
|
NM_001875.5(CPS1):c.3207C>T (p.Tyr1069=)
|
|
|
|
NM_001875.5(CPS1):c.3210G>A (p.Lys1070=)
|
rs1406035411
|
|
|
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=)
|
rs1574638509
|
|
|
NM_001875.5(CPS1):c.3216del (p.Val1073fs)
|
rs2105907969
|
|
|
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=)
|
rs1164414139
|
|
|
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
|
|
|
|
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg)
|
rs889511224
|
|
|
NM_001875.5(CPS1):c.3237C>T (p.Ser1079=)
|
|
|
|
NM_001875.5(CPS1):c.3242T>C (p.Leu1081Pro)
|
|
|
|
NM_001875.5(CPS1):c.3249C>T (p.Ile1083=)
|
rs751008875
|
|
|
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)
|
rs777363145
|
|
|
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)
|
|
|
|
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
|
|
|
|
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
|
|
|
|
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
|
|
|
|
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu)
|
rs1280211937
|
|
|
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)
|
|
|
|
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)
|
|
|
|
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
|
|
|
|
NM_001875.5(CPS1):c.3279A>T (p.Ser1093=)
|
|
|
|
NM_001875.5(CPS1):c.3282T>A (p.Ala1094=)
|
|
|
|
NM_001875.5(CPS1):c.3285C>T (p.Val1095=)
|
|
|
|
NM_001875.5(CPS1):c.3304dup (p.Ala1102fs)
|
|
|
|
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter)
|
rs1327048960
|
|
|
NM_001875.5(CPS1):c.330T>C (p.Thr110=)
|
rs777617670
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
|
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg)
|
rs1653256261
|
|
|
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)
|
|
|
|
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=)
|
rs1700437349
|
|
|
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)
|
|
|
|
NM_001875.5(CPS1):c.3336+10G>T
|
rs1233070918
|
|
|
NM_001875.5(CPS1):c.3336+13A>G
|
|
|
|
NM_001875.5(CPS1):c.3336+16A>C
|
|
|
|
NM_001875.5(CPS1):c.3336+16A>T
|
|
|
|
NM_001875.5(CPS1):c.3336+18T>A
|
|
|
|
NM_001875.5(CPS1):c.3336+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
|
NM_001875.5(CPS1):c.3336+2T>A
|
|
|
|
NM_001875.5(CPS1):c.3336+5G>A
|
|
|
|
NM_001875.5(CPS1):c.3336+7A>G
|
rs1574638794
|
|
|
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=)
|
rs772400341
|
|
|
NM_001875.5(CPS1):c.3337-14T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-14T>G
|
|
|
|
NM_001875.5(CPS1):c.3337-17T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-18G>A
|
|
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
|
NM_001875.5(CPS1):c.3337-8T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-9A>T
|
|
|
|
NM_001875.5(CPS1):c.334C>G (p.Leu112Val)
|
|
|
|
NM_001875.5(CPS1):c.334C>T (p.Leu112=)
|
rs149675371
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
|
NM_001875.5(CPS1):c.336G>C (p.Leu112=)
|
rs2106079689
|
|
|
NM_001875.5(CPS1):c.3375C>T (p.Pro1125=)
|
rs1381512911
|
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
|
NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)
|
|
|
|
NM_001875.5(CPS1):c.3382T>C (p.Leu1128=)
|
|
|
|
NM_001875.5(CPS1):c.3393C>T (p.Ser1131=)
|
|
|
|
NM_001875.5(CPS1):c.3396T>C (p.Tyr1132=)
|
rs1356882838
|
|
|
NM_001875.5(CPS1):c.3399T>C (p.Val1133=)
|
rs1700456740
|
|
|
NM_001875.5(CPS1):c.3399_3402del (p.Leu1134fs)
|
|
|
|
NM_001875.5(CPS1):c.33G>A (p.Val11=)
|
rs1696925949
|
|
|
NM_001875.5(CPS1):c.3404+10T>C
|
rs750058063
|
|
|
NM_001875.5(CPS1):c.3404+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3404+7C>G
|
|
|
|
NM_001875.5(CPS1):c.3404+9_3404+10del
|
rs557000347
|
|
|
NM_001875.5(CPS1):c.3405-13C>A
|
|
|
|
NM_001875.5(CPS1):c.3405-13dup
|
|
|
|
NM_001875.5(CPS1):c.3405-17T>C
|
|
|
|
NM_001875.5(CPS1):c.3405-2A>G
|
rs2105910926
|
|
|
NM_001875.5(CPS1):c.3405-4C>G
|
|
|
|
NM_001875.5(CPS1):c.3405-9C>T
|
rs2105910915
|
|
|
NM_001875.5(CPS1):c.3408G>T (p.Gly1136=)
|
|
|
|
NM_001875.5(CPS1):c.3426A>G (p.Val1142=)
|
rs1700522774
|
|
|
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser)
|
rs1700522933
|
|
|
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)
|
|
|
|
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys)
|
rs1414071158
|
|
|
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
|
|
|
|
NM_001875.5(CPS1):c.3447A>G (p.Lys1149=)
|
rs1472914107
|
|
|
NM_001875.5(CPS1):c.3450A>G (p.Lys1150=)
|
rs2105911004
|
|
|
NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)
|
|
|
|
NM_001875.5(CPS1):c.3454C>T (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3456A>C (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3456A>G (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
|
NM_001875.5(CPS1):c.3462G>A (p.Glu1154=)
|
|
|
|
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)
|
rs772806744
|
|
|
NM_001875.5(CPS1):c.3465G>T (p.Ala1155=)
|
|
|
|
NM_001875.5(CPS1):c.3471A>G (p.Arg1157=)
|
rs2105911036
|
|
|
NM_001875.5(CPS1):c.3477T>G (p.Ser1159=)
|
|
|
|
NM_001875.5(CPS1):c.3478C>T (p.Gln1160Ter)
|
|
|
|
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
|
|
|
|
NM_001875.5(CPS1):c.3480+15C>A
|
|
|
|
NM_001875.5(CPS1):c.3480+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3480+5T>C
|
rs1700524730
|
|
|
NM_001875.5(CPS1):c.3480+7T>C
|
|
|
|
NM_001875.5(CPS1):c.3480+9C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-11C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-12C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs)
|
rs1700635072
|
|
|
NM_001875.5(CPS1):c.3489A>G (p.Pro1163=)
|
rs1574646028
|
|
|
NM_001875.5(CPS1):c.348A>G (p.Gly116=)
|
|
|
|
NM_001875.5(CPS1):c.3498G>A (p.Leu1166=)
|
rs1342564191
|
|
|
NM_001875.5(CPS1):c.3498G>C (p.Leu1166=)
|
|
|
|
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe)
|
rs2106079743
|
|
|
NM_001875.5(CPS1):c.3510T>C (p.Val1170=)
|
|
|
|
NM_001875.5(CPS1):c.3510T>G (p.Val1170=)
|
rs2105914973
|
|
|
NM_001875.5(CPS1):c.3513A>G (p.Glu1171=)
|
rs750625969
|
|
|
NM_001875.5(CPS1):c.3520C>A (p.Arg1174=)
|
rs756337473
|
|
|
NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter)
|
rs756337473
|
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
|
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
|
|
|
|
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)
|
|
|
|
NM_001875.5(CPS1):c.3552T>C (p.Asp1184=)
|
rs769391518
|
|
|
NM_001875.5(CPS1):c.3558+11dup
|
rs2105915101
|
|
|
NM_001875.5(CPS1):c.3558+15C>A
|
|
|
|
NM_001875.5(CPS1):c.3558+17C>T
|
|
|
|
NM_001875.5(CPS1):c.3558+18A>G
|
|
|
|
NM_001875.5(CPS1):c.3558+1G>C
|
rs1559129372
|
|
|
NM_001875.5(CPS1):c.3558+20C>G
|
|
|
|
NM_001875.5(CPS1):c.3558+7G>C
|
rs764456030
|
|
|
NM_001875.5(CPS1):c.3559-15T>G
|
|
|
|
NM_001875.5(CPS1):c.3559-16T>A
|
|
|
|
NM_001875.5(CPS1):c.3559-16T>C
|
|
|
|
NM_001875.5(CPS1):c.3559-17T>A
|
|
|
|
NM_001875.5(CPS1):c.3559-20T>C
|
rs1181977935
|
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
|
NM_001875.5(CPS1):c.3559-7_3559-6del
|
|
|
|
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
|
|
|
|
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
|
|
|
|
NM_001875.5(CPS1):c.3573C>T (p.Ala1191=)
|
|
|
|
NM_001875.5(CPS1):c.3576C>A (p.Ile1192=)
|
rs1204885910
|
|
|
NM_001875.5(CPS1):c.3579T>C (p.Ser1193=)
|
|
|
|
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)
|
rs751372173
|
|
|
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=)
|
rs2105917877
|
|
|
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)
|
rs149518280
|
|
|
NM_001875.5(CPS1):c.3609G>T (p.Ser1203=)
|
rs148237524
|
|
|
NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)
|
|
|
|
NM_001875.5(CPS1):c.3622C>T (p.Leu1208=)
|
rs755531304
|
|
|
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln)
|
rs2105917916
|
|
|
NM_001875.5(CPS1):c.3628C>T (p.Leu1210=)
|
rs1700715964
|
|
|
NM_001875.5(CPS1):c.3633C>T (p.Pro1211=)
|
rs2105917938
|
|
|
NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala)
|
|
|
|
NM_001875.5(CPS1):c.3651A>G (p.Gln1217=)
|
|
|
|
NM_001875.5(CPS1):c.3655G>A (p.Ala1219Thr)
|
|
|
|
NM_001875.5(CPS1):c.3666+12T>C
|
|
|
|
NM_001875.5(CPS1):c.3666+1G>T
|
rs761271604
|
|
|
NM_001875.5(CPS1):c.3666+2del
|
|
|
|
NM_001875.5(CPS1):c.3666+4A>G
|
|
|
|
NM_001875.5(CPS1):c.3666+6_3666+8del
|
rs1219499475
|
|
|
NM_001875.5(CPS1):c.3666+8T>C
|
rs2105918017
|
|
|
NM_001875.5(CPS1):c.3667-12T>A
|
|
|
|
NM_001875.5(CPS1):c.3667-12T>G
|
|
|
|
NM_001875.5(CPS1):c.3667-15T>C
|
|
|
|
NM_001875.5(CPS1):c.3669G>A (p.Val1223=)
|
|
|
|
NM_001875.5(CPS1):c.3672G>A (p.Lys1224=)
|
rs373326677
|
|
|
NM_001875.5(CPS1):c.3682del (p.Arg1228fs)
|
rs2105920599
|
|
|
NM_001875.5(CPS1):c.3683_3756+772del
|
|
|
|
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=)
|
rs115897023
|
|
|
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val)
|
rs1700803697
|
|
|
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)
|
|
|
|
NM_001875.5(CPS1):c.3696G>A (p.Lys1232=)
|
|
|
|
NM_001875.5(CPS1):c.3711T>C (p.Ser1237=)
|
rs1559131877
|
|
|
NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)
|
|
|
|
NM_001875.5(CPS1):c.3720C>T (p.Phe1240=)
|
rs2105920654
|
|
|
NM_001875.5(CPS1):c.372T>C (p.Asn124=)
|
|
|
|
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)
|
rs753784617
|
|
|
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)
|
|
|
|
NM_001875.5(CPS1):c.3756+13A>G
|
|
|
|
NM_001875.5(CPS1):c.3756+3A>G
|
rs777990487
|
|
|
NM_001875.5(CPS1):c.3756+9T>A
|
rs2105920715
|
|
|
NM_001875.5(CPS1):c.3757-13T>C
|
|
|
|
NM_001875.5(CPS1):c.3757-17G>C
|
|
|
|
NM_001875.5(CPS1):c.3757-19T>G
|
|
|
|
NM_001875.5(CPS1):c.3757-1G>A
|
rs2105922845
|
|
|
NM_001875.5(CPS1):c.3757-7T>C
|
rs1574654116
|
|
|
NM_001875.5(CPS1):c.375A>G (p.Gly125=)
|
rs1697717041
|
|
|
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter)
|
rs2105922857
|
|
|
NM_001875.5(CPS1):c.3765G>A (p.Glu1255=)
|
|
|
|
NM_001875.5(CPS1):c.3771C>T (p.Asn1257=)
|
|
|
|
NM_001875.5(CPS1):c.3780T>C (p.Ala1260=)
|
rs2105922887
|
|
|
NM_001875.5(CPS1):c.3786A>G (p.Arg1262=)
|
|
|
|
NM_001875.5(CPS1):c.378C>A (p.Ile126=)
|
|
|
|
NM_001875.5(CPS1):c.3792C>T (p.Phe1264=)
|
|
|
|
NM_001875.5(CPS1):c.3804C>T (p.Ser1268=)
|
|
|
|
NM_001875.5(CPS1):c.381+14T>C
|
|
|
|
NM_001875.5(CPS1):c.381+14T>G
|
|
|
|
NM_001875.5(CPS1):c.381+16G>C
|
|
|
|
NM_001875.5(CPS1):c.381+2T>C
|
rs1574543988
|
|
|
NM_001875.5(CPS1):c.381+9A>C
|
rs1447837168
|
|
|
NM_001875.5(CPS1):c.381+9A>G
|
rs1447837168
|
|
|
NM_001875.5(CPS1):c.3810T>C (p.Thr1270=)
|
|
|
|
NM_001875.5(CPS1):c.382-10_382-7del
|
rs1354079241
|
|
|
NM_001875.5(CPS1):c.382-11T>C
|
|
|
|
NM_001875.5(CPS1):c.382-6T>G
|
|
|
|
NM_001875.5(CPS1):c.382-7T>C
|
rs1449373331
|
|
|
NM_001875.5(CPS1):c.382-8C>T
|
|
|
|
NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)
|
|
|
|
NM_001875.5(CPS1):c.3843G>A (p.Lys1281=)
|
|
|
|
NM_001875.5(CPS1):c.3858G>A (p.Glu1286=)
|
|
|
|
NM_001875.5(CPS1):c.3864T>C (p.Val1288=)
|
rs2105923010
|
|
|
NM_001875.5(CPS1):c.3869del (p.Glu1290fs)
|
|
|
|
NM_001875.5(CPS1):c.3870G>A (p.Glu1290=)
|
|
|
|
NM_001875.5(CPS1):c.3882A>G (p.Pro1294=)
|
|
|
|
NM_001875.5(CPS1):c.3886T>C (p.Leu1296=)
|
rs763535883
|
|
|
NM_001875.5(CPS1):c.3897C>T (p.Pro1299=)
|
rs1167952434
|
|
|
NM_001875.5(CPS1):c.3903T>A (p.Ile1301=)
|
rs2105923081
|
|
|
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)
|
rs1264586092
|
|
|
NM_001875.5(CPS1):c.3906T>G (p.Pro1302=)
|
rs750884050
|
|
|
NM_001875.5(CPS1):c.3909T>C (p.Ala1303=)
|
rs200579952
|
|
|
NM_001875.5(CPS1):c.3909T>G (p.Ala1303=)
|
rs200579952
|
|
|
NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)
|
|
|
|
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter)
|
rs1700887978
|
|
|
NM_001875.5(CPS1):c.3915T>C (p.Tyr1305=)
|
|
|
|
NM_001875.5(CPS1):c.3918T>C (p.Val1306=)
|
|
|
|
NM_001875.5(CPS1):c.3927+11C>A
|
|
|
|
NM_001875.5(CPS1):c.3927+11C>T
|
|
|
|
NM_001875.5(CPS1):c.3927+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3927+19T>C
|
|
|
|
NM_001875.5(CPS1):c.3927+20A>G
|
|
|
|
NM_001875.5(CPS1):c.3927+20A>T
|
|
|
|
NM_001875.5(CPS1):c.3927+5C>A
|
|
|
|
NM_001875.5(CPS1):c.3927+9T>C
|
rs2105923157
|
|
|
NM_001875.5(CPS1):c.3928-10T>C
|
rs1700977284
|
|
|
NM_001875.5(CPS1):c.3928-16T>A
|
|
|
|
NM_001875.5(CPS1):c.3928-19T>A
|
|
|
|
NM_001875.5(CPS1):c.3928-19T>G
|
rs77561958
|
|
|
NM_001875.5(CPS1):c.3928-20del
|
|
|
|
NM_001875.5(CPS1):c.3928-22_3928-20del
|
rs1700976248
|
|
|
NM_001875.5(CPS1):c.3928-4A>T
|
|
|
|
NM_001875.5(CPS1):c.3928-6C>T
|
rs1266870551
|
|
|
NM_001875.5(CPS1):c.3928-8_3928-7del
|
|
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
|
NM_001875.5(CPS1):c.3928-8dup
|
|
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
|
NM_001875.5(CPS1):c.3935dup (p.Met1312fs)
|
rs2105926082
|
|
|
NM_001875.5(CPS1):c.3948C>G (p.Pro1316=)
|
rs777916457
|
|
|
NM_001875.5(CPS1):c.394C>T (p.Leu132=)
|
rs2106081624
|
|
|
NM_001875.5(CPS1):c.3951G>T (p.Arg1317=)
|
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
|
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter)
|
rs1700979727
|
|
|
NM_001875.5(CPS1):c.3955A>C (p.Arg1319=)
|
rs779756304
|
|
|
NM_001875.5(CPS1):c.3960T>C (p.Asp1320=)
|
rs1233768209
|
|
|
NM_001875.5(CPS1):c.3966C>T (p.Asp1322=)
|
rs2105926163
|
|
|
NM_001875.5(CPS1):c.3984G>A (p.Glu1328=)
|
rs1225017097
|
|
|
NM_001875.5(CPS1):c.3993C>T (p.Ser1331=)
|
rs2105926215
|
|
|
NM_001875.5(CPS1):c.39A>C (p.Thr13=)
|
rs755098080
|
|
|
NM_001875.5(CPS1):c.4002+11A>G
|
|
|
|
NM_001875.5(CPS1):c.4002+19A>G
|
|
|
|
NM_001875.5(CPS1):c.4002+2T>A
|
rs1553518395
|
|
|
NM_001875.5(CPS1):c.4003-12A>G
|
rs534566099
|
|
|
NM_001875.5(CPS1):c.4003-15T>C
|
rs2105932989
|
|
|
NM_001875.5(CPS1):c.4003-16A>G
|
|
|
|
NM_001875.5(CPS1):c.4003-2A>C
|
|
|
|
NM_001875.5(CPS1):c.4003-7T>C
|
|
|
|
NM_001875.5(CPS1):c.4005G>T (p.Val1335=)
|
rs2105932999
|
|
|
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys)
|
rs2105933010
|
|
|
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)
|
|
|
|
NM_001875.5(CPS1):c.4029T>C (p.His1343=)
|
rs1286982785
|
|
|
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly)
|
rs1701168860
|
|
|
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)
|
|
|
|
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly)
|
rs1701169191
|
|
|
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)
|
|
|
|
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)
|
|
|
|
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter)
|
rs1701171267
|
|
|
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)
|
|
|
|
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
|
|
|
|
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)
|
rs766705843
|
|
|
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)
|
|
|
|
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=)
|
rs368890059
|
|
|
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
|
|
|
|
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp)
|
rs1701172255
|
|
|
NM_001875.5(CPS1):c.4101+1G>T
|
|
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
|
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
|
|
|
|
NM_001875.5(CPS1):c.4102-11T>C
|
|
|
|
NM_001875.5(CPS1):c.4102-14A>T
|
|
|
|
NM_001875.5(CPS1):c.4102-1G>C
|
|
|
|
NM_001875.5(CPS1):c.4102-8C>G
|
|
|
|
NM_001875.5(CPS1):c.4102-9C>G
|
|
|
|
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)
|
|
|
|
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)
|
|
|
|
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile)
|
rs2106081662
|
|
|
NM_001875.5(CPS1):c.4111C>A (p.Arg1371=)
|
|
|
|
NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)
|
|
|
|
NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)
|
|
|
|
NM_001875.5(CPS1):c.411T>A (p.Ser137Arg)
|
|
|
|
NM_001875.5(CPS1):c.4122C>T (p.Phe1374=)
|
rs1351524107
|
|
|
NM_001875.5(CPS1):c.4125T>C (p.Leu1375=)
|
rs2105942839
|
|
|
NM_001875.5(CPS1):c.4128T>C (p.Gly1376=)
|
rs777517524
|
|
|
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)
|
|
|
|
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)
|
|
|
|
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter)
|
rs2105942900
|
|
|
NM_001875.5(CPS1):c.4161+13_4161+17del
|
|
|
|
NM_001875.5(CPS1):c.4161+18A>C
|
|
|
|
NM_001875.5(CPS1):c.4161+1G>A
|
|
|
|
NM_001875.5(CPS1):c.4161+20G>A
|
|
|
|
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
|
|
|
|
NM_001875.5(CPS1):c.4162-13A>G
|
|
|
|
NM_001875.5(CPS1):c.4162-16T>C
|
|
|
|
NM_001875.5(CPS1):c.4162-19T>G
|
|
|
|
NM_001875.5(CPS1):c.4162-20T>C
|
|
|
|
NM_001875.5(CPS1):c.4162-3C>T
|
|
|
|
NM_001875.5(CPS1):c.4162-4G>A
|
rs2105944013
|
|
|
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=)
|
rs2105944072
|
|
|
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)
|
|
|
|
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter)
|
rs1172971002
|
|
|
NM_001875.5(CPS1):c.4197C>T (p.Asn1399=)
|
rs548201746
|
|
|
NM_001875.5(CPS1):c.4209C>A (p.Val1403=)
|
|
|
|
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)
|
rs772576138
|
|
|
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)
|
|
|
|
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
|
|
|
|
NM_001875.5(CPS1):c.4221A>T (p.Pro1407=)
|
rs1252997852
|
|
|
NM_001875.5(CPS1):c.4224G>C (p.Val1408=)
|
rs2105944167
|
|
|
NM_001875.5(CPS1):c.4227A>C (p.Ala1409=)
|
rs1574678932
|
|
|
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)
|
|
|
|
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
|
|
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
|
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)
|
|
|
|
NM_001875.5(CPS1):c.4246C>T (p.Gln1416Ter)
|
|
|
|
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)
|
|
|
|
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
|
|
|
|
NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)
|
|
|
|
NM_001875.5(CPS1):c.4266C>T (p.Ser1422=)
|
rs1389889942
|
|
|
NM_001875.5(CPS1):c.4274+10A>C
|
rs1701512309
|
|
|
NM_001875.5(CPS1):c.4274+10A>G
|
|
|
|
NM_001875.5(CPS1):c.4274+12G>A
|
|
|
|
NM_001875.5(CPS1):c.4274+14A>G
|
|
|
|
NM_001875.5(CPS1):c.4274+16A>T
|
|
|
|
NM_001875.5(CPS1):c.4274+19G>A
|
|
|
|
NM_001875.5(CPS1):c.4274+20T>C
|
|
|
|
NM_001875.5(CPS1):c.4274+8C>A
|
|
|
|
NM_001875.5(CPS1):c.4274+8C>T
|
rs753409248
|
|
|
NM_001875.5(CPS1):c.4275-13T>C
|
|
|
|
NM_001875.5(CPS1):c.4275-15T>G
|
rs2105945904
|
|
|
NM_001875.5(CPS1):c.4275-16T>C
|
|
|
|
NM_001875.5(CPS1):c.4275-5del
|
|
|
|
NM_001875.5(CPS1):c.4275-6T>C
|
rs2105945922
|
|
|
NM_001875.5(CPS1):c.4275-7T>C
|
|
|
|
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
|
|
|
|
NM_001875.5(CPS1):c.4312C>A (p.Leu1438Ile)
|
|
|
|
NM_001875.5(CPS1):c.4317C>T (p.Pro1439=)
|
rs534152112
|
|
|
NM_001875.5(CPS1):c.4320C>T (p.Asn1440=)
|
|
|
|
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)
|
|
|
|
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=)
|
rs2105946027
|
|
|
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)
|
|
|
|
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln)
|
rs1559142152
|
|
|
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
|
|
|
|
NM_001875.5(CPS1):c.4365A>G (p.Thr1455=)
|
|
|
|
NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)
|
|
|
|
NM_001875.5(CPS1):c.4371T>A (p.Val1457=)
|
|
|
|
NM_001875.5(CPS1):c.4371T>C (p.Val1457=)
|
|
|
|
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val)
|
rs1701560653
|
|
|
NM_001875.5(CPS1):c.4374T>C (p.Asp1458=)
|
rs1701560758
|
|
|
NM_001875.5(CPS1):c.4377T>C (p.Ser1459=)
|
rs2105946112
|
|
|
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn)
|
rs1559142189
|
|
|
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=)
|
rs1160139631
|
|
|
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
|
|
|
|
NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)
|
|
|
|
NM_001875.5(CPS1):c.4392C>T (p.Leu1464=)
|
|
|
|
NM_001875.5(CPS1):c.4395T>C (p.Thr1465=)
|
|
|
|
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu)
|
rs2105946163
|
|
|
NM_001875.5(CPS1):c.4404+11T>C
|
|
|
|
NM_001875.5(CPS1):c.4404+19A>G
|
|
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
|
|
|
NM_001875.5(CPS1):c.4404+8C>A
|
|
|
|
NM_001875.5(CPS1):c.4405-10A>G
|
|
|
|
NM_001875.5(CPS1):c.4405-14C>T
|
|
|
|
NM_001875.5(CPS1):c.4405-15C>T
|
|
|
|
NM_001875.5(CPS1):c.4405-8A>C
|
|
|
|
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile)
|
rs762221038
|
|
|
NM_001875.5(CPS1):c.4413A>G (p.Lys1471=)
|
|
|
|
NM_001875.5(CPS1):c.4422T>C (p.Ala1474=)
|
|
|
|
NM_001875.5(CPS1):c.4428T>G (p.Ala1476=)
|
|
|
|
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
|
|
|
|
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
|
|
|
|
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)
|
|
|
|
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
|
|
|
|
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)
|
|
|
|
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
|
|
|
|
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)
|
|
|
|
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
|
|
|
|
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg)
|
rs2105947140
|
|
|
NM_001875.5(CPS1):c.4470C>T (p.His1490=)
|
|
|
|
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)
|
|
|
|
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro)
|
rs2105947164
|
|
|
NM_001875.5(CPS1):c.4479G>A (p.Gln1493=)
|
|
|
|
NM_001875.5(CPS1):c.4494A>G (p.Lys1498=)
|
rs2105947204
|
|
|
NM_001875.5(CPS1):c.4500A>G (p.Ala1500=)
|
|
|
|
NM_001875.5(CPS1):c.450G>A (p.Gly150=)
|
|
|
|
NM_001875.5(CPS1):c.450G>T (p.Gly150=)
|
|
|
|
NM_001875.5(CPS1):c.459A>C (p.Leu153=)
|
|
|
|
NM_001875.5(CPS1):c.459A>G (p.Leu153=)
|
rs2106081768
|
|
|
NM_001875.5(CPS1):c.45G>A (p.Lys15=)
|
|
|
|
NM_001875.5(CPS1):c.462G>A (p.Gln154=)
|
rs2106081775
|
|
|
NM_001875.5(CPS1):c.465A>G (p.Glu155=)
|
|
|
|
NM_001875.5(CPS1):c.471+10G>A
|
|
|
|
NM_001875.5(CPS1):c.471+18G>A
|
|
|
|
NM_001875.5(CPS1):c.471+9T>C
|
rs1697753704
|
|
|
NM_001875.5(CPS1):c.472-16A>C
|
|
|
|
NM_001875.5(CPS1):c.472-17C>T
|
|
|
|
NM_001875.5(CPS1):c.472-19T>C
|
|
|
|
NM_001875.5(CPS1):c.472-4A>G
|
|
|
|
NM_001875.5(CPS1):c.472-8dup
|
rs761912505
|
|
|
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)
|
|
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
|
NM_001875.5(CPS1):c.504G>T (p.Met168Ile)
|
rs1194500413
|
|
|
NM_001875.5(CPS1):c.513A>G (p.Lys171=)
|
|
|
|
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
|
|
|
|
NM_001875.5(CPS1):c.528+10T>A
|
|
|
|
NM_001875.5(CPS1):c.528+10T>C
|
rs772104742
|
|
|
NM_001875.5(CPS1):c.528+11C>T
|
|
|
|
NM_001875.5(CPS1):c.528+12A>G
|
|
|
|
NM_001875.5(CPS1):c.528+17T>C
|
|
|
|
NM_001875.5(CPS1):c.528+2T>C
|
rs1574548003
|
|
|
NM_001875.5(CPS1):c.528G>A (p.Lys176=)
|
rs1559086441
|
|
|
NM_001875.5(CPS1):c.529-11dup
|
|
|
|
NM_001875.5(CPS1):c.529-15T>A
|
rs947763938
|
|
|
NM_001875.5(CPS1):c.529-15T>G
|
|
|
|
NM_001875.5(CPS1):c.529-20T>G
|
|
|
|
NM_001875.5(CPS1):c.529-5G>T
|
|
|
|
NM_001875.5(CPS1):c.529-6T>C
|
|
|
|
NM_001875.5(CPS1):c.531T>A (p.Gly177=)
|
rs374019321
|
|
|
NM_001875.5(CPS1):c.543G>A (p.Gly181=)
|
rs2106091897
|
|
|
NM_001875.5(CPS1):c.546G>A (p.Lys182=)
|
|
|
|
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
|
|
|
|
NM_001875.5(CPS1):c.552A>G (p.Glu184=)
|
rs2106091934
|
|
|
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
|
|
|
|
NM_001875.5(CPS1):c.567T>A (p.Pro189=)
|
|
|
|
NM_001875.5(CPS1):c.57C>T (p.Gly19=)
|
rs2106037275
|
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
|
NM_001875.5(CPS1):c.618C>A (p.Thr206=)
|
rs1697965317
|
|
|
NM_001875.5(CPS1):c.621+13C>T
|
|
|
|
NM_001875.5(CPS1):c.621+17T>G
|
|
|
|
NM_001875.5(CPS1):c.621+7G>A
|
|
|
|
NM_001875.5(CPS1):c.621+8del
|
rs1574551647
|
|
|
NM_001875.5(CPS1):c.622-11T>C
|
|
|
|
NM_001875.5(CPS1):c.622-2A>G
|
rs2106103778
|
|
|
NM_001875.5(CPS1):c.622-3C>T
|
rs1574557868
|
|
|
NM_001875.5(CPS1):c.622-4dup
|
|
|
|
NM_001875.5(CPS1):c.642A>G (p.Lys214=)
|
rs2106103827
|
|
|
NM_001875.5(CPS1):c.651del (p.Thr218fs)
|
|
|
|
NM_001875.5(CPS1):c.654A>G (p.Thr218=)
|
|
|
|
NM_001875.5(CPS1):c.654A>T (p.Thr218=)
|
|
|
|
NM_001875.5(CPS1):c.660G>T (p.Val220=)
|
rs2106103871
|
|
|
NM_001875.5(CPS1):c.669A>G (p.Val223=)
|
rs2106103890
|
|
|
NM_001875.5(CPS1):c.66T>C (p.Asn22=)
|
rs2106037321
|
|
|
NM_001875.5(CPS1):c.672C>T (p.Asp224=)
|
|
|
|
NM_001875.5(CPS1):c.675T>C (p.Cys225=)
|
rs2106103901
|
|
|
NM_001875.5(CPS1):c.677G>T (p.Gly226Val)
|
rs2106103911
|
|
|
NM_001875.5(CPS1):c.678G>A (p.Gly226=)
|
|
|
|
NM_001875.5(CPS1):c.681del (p.Asn229fs)
|
|
|
|
NM_001875.5(CPS1):c.687C>T (p.Asn229=)
|
|
|
|
NM_001875.5(CPS1):c.693A>C (p.Val231=)
|
|
|
|
NM_001875.5(CPS1):c.696C>A (p.Ile232=)
|
|
|
|
NM_001875.5(CPS1):c.700C>T (p.Leu234=)
|
|
|
|
NM_001875.5(CPS1):c.705A>G (p.Leu235=)
|
rs1574558005
|
|
|
NM_001875.5(CPS1):c.708A>C (p.Val236=)
|
rs2106103973
|
|
|
NM_001875.5(CPS1):c.711+15C>A
|
|
|
|
NM_001875.5(CPS1):c.711+15C>T
|
|
|
|
NM_001875.5(CPS1):c.711+16A>G
|
|
|
|
NM_001875.5(CPS1):c.711+18T>G
|
|
|
|
NM_001875.5(CPS1):c.711+7A>G
|
rs756703955
|
|
|
NM_001875.5(CPS1):c.711+8A>G
|
rs2106104009
|
|
|
NM_001875.5(CPS1):c.712-11C>G
|
|
|
|
NM_001875.5(CPS1):c.712-16del
|
|
|
|
NM_001875.5(CPS1):c.712-18C>T
|
|
|
|
NM_001875.5(CPS1):c.712-8T>C
|
|
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
|
NM_001875.5(CPS1):c.717A>G (p.Gly239=)
|
rs1220254817
|
|
|
NM_001875.5(CPS1):c.720T>C (p.Ala240=)
|
|
|
|
NM_001875.5(CPS1):c.726G>T (p.Val242=)
|
|
|
|
NM_001875.5(CPS1):c.729C>G (p.His243Gln)
|
|
|
|
NM_001875.5(CPS1):c.730T>C (p.Leu244=)
|
rs1698241536
|
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
|
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu)
|
rs2106107599
|
|
|
NM_001875.5(CPS1):c.738C>T (p.Pro246=)
|
rs1698242132
|
|
|
NM_001875.5(CPS1):c.747T>C (p.His249=)
|
rs1574560501
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
|
NM_001875.5(CPS1):c.753C>T (p.Phe251=)
|
rs2106107631
|
|
|
NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)
|
|
|
|
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
|
|
|
|
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)
|
|
|
|
NM_001875.5(CPS1):c.768T>C (p.Tyr256=)
|
rs2106107683
|
|
|
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
|
rs778299777
|
|
|
NM_001875.5(CPS1):c.783C>A (p.Ile261=)
|
|
|
|
NM_001875.5(CPS1):c.784G>A (p.Ala262Thr)
|
|
|
|
NM_001875.5(CPS1):c.786G>T (p.Ala262=)
|
|
|
|
NM_001875.5(CPS1):c.78C>T (p.His26=)
|
rs745616278
|
|
|
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr)
|
rs2106107745
|
|
|
NM_001875.5(CPS1):c.801C>T (p.Asn267=)
|
|
|
|
NM_001875.5(CPS1):c.813A>C (p.Ala271=)
|
rs964016238
|
|
|
NM_001875.5(CPS1):c.816A>G (p.Glu272=)
|
rs1559092314
|
|
|
NM_001875.5(CPS1):c.817C>G (p.Pro273Ala)
|
|
|
|
NM_001875.5(CPS1):c.819A>C (p.Pro273=)
|
|
|
|
NM_001875.5(CPS1):c.840+11C>T
|
|
|
|
NM_001875.5(CPS1):c.840+12C>T
|
|
|
|
NM_001875.5(CPS1):c.840+1G>T
|
rs1206168005
|
|
|
NM_001875.5(CPS1):c.840+6A>G
|
rs1477495553
|
|
|
NM_001875.5(CPS1):c.840+7T>C
|
|
|
|
NM_001875.5(CPS1):c.840+9A>G
|
rs754876051
|
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|
|
NM_001875.5(CPS1):c.841-10C>G
|
rs766131653
|
|
|
NM_001875.5(CPS1):c.841-13C>A
|
|
|
|
NM_001875.5(CPS1):c.841-18A>C
|
|
|
|
NM_001875.5(CPS1):c.841-8T>C
|
|
|
|
NM_001875.5(CPS1):c.841-9C>T
|
|
|
|
NM_001875.5(CPS1):c.857G>A (p.Arg286His)
|
|
|
|
NM_001875.5(CPS1):c.864G>A (p.Glu288=)
|
|
|
|
NM_001875.5(CPS1):c.866del (p.Pro289fs)
|
|
|
|
NM_001875.5(CPS1):c.869dup (p.Leu290fs)
|
|
|
|
NM_001875.5(CPS1):c.876A>T (p.Gly292=)
|
rs2106108942
|
|
|
NM_001875.5(CPS1):c.879C>T (p.Ile293=)
|
|
|
|
NM_001875.5(CPS1):c.882T>C (p.Ser294=)
|
rs781583758
|
|
|
NM_001875.5(CPS1):c.888A>G (p.Gly296=)
|
|
|
|
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)
|
rs1698268978
|
|
|
NM_001875.5(CPS1):c.895A>G (p.Ile299Val)
|
rs2106108999
|
|
|
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)
|
|
|
|
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)
|
|
|
|
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
|
|
|
|
NM_001875.5(CPS1):c.924C>G (p.Thr308=)
|
|
|
|
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)
|
|
|
|
NM_001875.5(CPS1):c.927C>T (p.Tyr309=)
|
rs1553511083
|
|
|
NM_001875.5(CPS1):c.945C>T (p.Asn315=)
|
|
|
|
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)
|
|
|
|
NM_001875.5(CPS1):c.948-14C>T
|
|
|
|
NM_001875.5(CPS1):c.948-16C>A
|
|
|
|
NM_001875.5(CPS1):c.948-18_948-17del
|
|
|
|
NM_001875.5(CPS1):c.948-4C>A
|
|
|
|
NM_001875.5(CPS1):c.948-4C>T
|
|
|
|
NM_001875.5(CPS1):c.948-6del
|
|
|
|
NM_001875.5(CPS1):c.948-7T>C
|
|
|
|
NM_001875.5(CPS1):c.948-9del
|
|
|
|
NM_001875.5(CPS1):c.951G>A (p.Gly317=)
|
rs2106110944
|
|
|
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
|
|
|
|
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)
|
|
|
|
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)
|
|
|
|
NM_001875.5(CPS1):c.960G>A (p.Gln320=)
|
rs184908948
|
|
|
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
|
|
|
|
NM_001875.5(CPS1):c.975C>T (p.Ile325=)
|
rs749977878
|
|
|
NM_001875.5(CPS1):c.981C>T (p.Asn327=)
|
|
|
|
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)
|
|
|
|
NM_001875.5(CPS1):c.984A>G (p.Lys328=)
|
|
|
|
NM_001875.5(CPS1):c.990T>C (p.Ala330=)
|
rs2106111046
|
|
|
NM_001875.5(CPS1):c.9G>A (p.Arg3=)
|
rs2106037152
|
|
|
NM_001876.4(CPT1A):c.1002C>T (p.Ile334=)
|
rs150511642
|
|
|
NM_001876.4(CPT1A):c.1005C>T (p.Val335=)
|
|
|
|
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro)
|
rs398123653
|
|
|
NM_001876.4(CPT1A):c.1015C>T (p.Arg339Ter)
|
rs1435045544
|
|
|
NM_001876.4(CPT1A):c.101C>T (p.Ser34Phe)
|
rs1856355607
|
|
|
NM_001876.4(CPT1A):c.1032G>A (p.Lys344=)
|
|
|
|
NM_001876.4(CPT1A):c.1033G>A (p.Val345Ile)
|
|
|
|
NM_001876.4(CPT1A):c.1039dup (p.Leu347fs)
|
|
|
|
NM_001876.4(CPT1A):c.1041C>T (p.Leu347=)
|
rs907655340
|
|
|
NM_001876.4(CPT1A):c.1046A>G (p.His349Arg)
|
|
|
|
NM_001876.4(CPT1A):c.1047T>C (p.His349=)
|
rs2153998399
|
|
|
NM_001876.4(CPT1A):c.1050T>C (p.Asp350=)
|
|
|
|
NM_001876.4(CPT1A):c.1053G>A (p.Gly351=)
|
rs1594337533
|
|
|
NM_001876.4(CPT1A):c.1056G>A (p.Arg352=)
|
rs2153998396
|
|
|
NM_001876.4(CPT1A):c.1057C>T (p.Leu353=)
|
|
|
|
NM_001876.4(CPT1A):c.1065G>A (p.Lys355=)
|
rs959723300
|
|
|
NM_001876.4(CPT1A):c.1070G>A (p.Arg357Gln)
|
|
|
|
NM_001876.4(CPT1A):c.1080G>A (p.Glu360=)
|
rs1035252133
|
|
|
NM_001876.4(CPT1A):c.1093dup (p.Arg365fs)
|
|
|
|
NM_001876.4(CPT1A):c.1098C>A (p.Ile366=)
|
rs1855413826
|
|
|
NM_001876.4(CPT1A):c.1098C>T (p.Ile366=)
|
|
|
|
NM_001876.4(CPT1A):c.1099C>T (p.Leu367=)
|
rs1367006911
|
|
|
NM_001876.4(CPT1A):c.1101G>A (p.Leu367=)
|
|
|
|
NM_001876.4(CPT1A):c.1104C>T (p.Asp368=)
|
rs2153998382
|
|
|
NM_001876.4(CPT1A):c.111T>C (p.His37=)
|
|
|
|
NM_001876.4(CPT1A):c.1125C>T (p.Pro375=)
|
|
|
|
NM_001876.4(CPT1A):c.1131G>A (p.Glu377=)
|
rs1215645933
|
|
|
NM_001876.4(CPT1A):c.1153G>A (p.Ala385Thr)
|
|
|
|
NM_001876.4(CPT1A):c.1160A>T (p.Asp387Val)
|
|
|
|
NM_001876.4(CPT1A):c.1163+12A>G
|
|
|
|
NM_001876.4(CPT1A):c.1163+18C>T
|
|
|
|
NM_001876.4(CPT1A):c.1163+20T>C
|
|
|
|
NM_001876.4(CPT1A):c.1163+2T>C
|
rs1555229059
|
|
|
NM_001876.4(CPT1A):c.1163+4C>T
|
|
|
|
NM_001876.4(CPT1A):c.1163+5G>A
|
rs140999795
|
|
|
NM_001876.4(CPT1A):c.1163+5G>T
|
|
|
|
NM_001876.4(CPT1A):c.1163+8G>A
|
rs768943458
|
|
|
NM_001876.4(CPT1A):c.1164-13A>G
|
|
|
|
NM_001876.4(CPT1A):c.1164-14C>T
|
|
|
|
NM_001876.4(CPT1A):c.1164-20G>A
|
|
|
|
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
|
|
|
|
NM_001876.4(CPT1A):c.1172G>A (p.Trp391Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1173G>A (p.Trp391Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys)
|
rs1451283997
|
|
|
NM_001876.4(CPT1A):c.1188G>A (p.Gln396=)
|
|
|
|
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His)
|
rs2153997934
|
|
|
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
|
|
|
|
NM_001876.4(CPT1A):c.1202G>A (p.Arg401His)
|
|
|
|
NM_001876.4(CPT1A):c.1203del (p.Asn404fs)
|
|
|
|
NM_001876.4(CPT1A):c.1215G>A (p.Lys405=)
|
rs1445775305
|
|
|
NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter)
|
rs1594334937
|
|
|
NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)
|
|
|
|
NM_001876.4(CPT1A):c.1227T>C (p.Asp409=)
|
rs1185206458
|
|
|
NM_001876.4(CPT1A):c.122del (p.Lys41fs)
|
rs1856354768
|
|
|
NM_001876.4(CPT1A):c.1239A>G (p.Lys413=)
|
rs1274403290
|
|
|
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)
|
rs80356790
|
|
|
NM_001876.4(CPT1A):c.1257G>T (p.Thr419=)
|
|
|
|
NM_001876.4(CPT1A):c.1269T>C (p.Thr423=)
|
rs2153997923
|
|
|
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del)
|
rs747376723
|
|
|
NM_001876.4(CPT1A):c.1272A>G (p.Glu424=)
|
|
|
|
NM_001876.4(CPT1A):c.1284A>G (p.Arg428=)
|
rs2153997922
|
|
|
NM_001876.4(CPT1A):c.1296G>A (p.Pro432=)
|
rs756320661
|
|
|
NM_001876.4(CPT1A):c.1296G>C (p.Pro432=)
|
rs756320661
|
|
|
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
|
|
|
|
NM_001876.4(CPT1A):c.1323A>G (p.Lys441=)
|
rs2153997916
|
|
|
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr)
|
rs2153997915
|
|
|
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs)
|
rs2153997913
|
|
|
NM_001876.4(CPT1A):c.1329A>G (p.Leu443=)
|
rs2153997912
|
|
|
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter)
|
rs397515543
|
|
|
NM_001876.4(CPT1A):c.1350C>T (p.Asp450=)
|
rs2153997906
|
|
|
NM_001876.4(CPT1A):c.1352+13C>T
|
|
|
|
NM_001876.4(CPT1A):c.1352+14C>G
|
|
|
|
NM_001876.4(CPT1A):c.1352+1G>C
|
|
|
|
NM_001876.4(CPT1A):c.1353-13G>T
|
|
|
|
NM_001876.4(CPT1A):c.1353-15G>C
|
|
|
|
NM_001876.4(CPT1A):c.1353-15GT[2]
|
|
|
|
NM_001876.4(CPT1A):c.1353-16T>A
|
|
|
|
NM_001876.4(CPT1A):c.1353-20C>T
|
|
|
|
NM_001876.4(CPT1A):c.1353-4G>T
|
rs577271875
|
|
|
NM_001876.4(CPT1A):c.1353-8T>C
|
rs2153997788
|
|
|
NM_001876.4(CPT1A):c.1367C>A (p.Ser456Ter)
|
rs1478167106
|
|
|
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu)
|
rs1478167106
|
|
|
NM_001876.4(CPT1A):c.1368G>C (p.Ser456=)
|
rs563338783
|
|
|
NM_001876.4(CPT1A):c.1380T>C (p.Val460=)
|
|
|
|
NM_001876.4(CPT1A):c.1383C>T (p.Val461=)
|
rs2153997781
|
|
|
NM_001876.4(CPT1A):c.1386C>A (p.Phe462Leu)
|
rs2153997779
|
|
|
NM_001876.4(CPT1A):c.1395G>A (p.Gly465=)
|
rs774577615
|
|
|
NM_001876.4(CPT1A):c.1395G>C (p.Gly465=)
|
rs774577615
|
|
|
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)
|
rs774577615
|
|
|
NM_001876.4(CPT1A):c.1405C>T (p.Leu469Phe)
|
rs1315026195
|
|
|
NM_001876.4(CPT1A):c.141+10G>A
|
|
|
|
NM_001876.4(CPT1A):c.141+13T>A
|
|
|
|
NM_001876.4(CPT1A):c.141+17T>A
|
|
|
|
NM_001876.4(CPT1A):c.141+6C>G
|
rs1856354034
|
|
|
NM_001876.4(CPT1A):c.142-12G>A
|
|
|
|
NM_001876.4(CPT1A):c.142-13T>C
|
|
|
|
NM_001876.4(CPT1A):c.142-13T>G
|
|
|
|
NM_001876.4(CPT1A):c.142-14G>A
|
|
|
|
NM_001876.4(CPT1A):c.142-14G>T
|
|
|
|
NM_001876.4(CPT1A):c.142-15G>C
|
|
|
|
NM_001876.4(CPT1A):c.142-17C>T
|
|
|
|
NM_001876.4(CPT1A):c.142-18C>T
|
|
|
|
NM_001876.4(CPT1A):c.142-20G>T
|
|
|
|
NM_001876.4(CPT1A):c.1422C>T (p.Ser474=)
|
|
|
|
NM_001876.4(CPT1A):c.1433C>T (p.Ala478Val)
|
rs2153997775
|
|
|
NM_001876.4(CPT1A):c.1435_1441del (p.Pro479fs)
|
|
|
|
NM_001876.4(CPT1A):c.1437G>C (p.Pro479=)
|
rs554525176
|
|
|
NM_001876.4(CPT1A):c.1437G>T (p.Pro479=)
|
|
|
|
NM_001876.4(CPT1A):c.1441G>A (p.Val481Met)
|
|
|
|
NM_001876.4(CPT1A):c.1449C>T (p.His483=)
|
|
|
|
NM_001876.4(CPT1A):c.1458+17T>A
|
|
|
|
NM_001876.4(CPT1A):c.1458+17T>C
|
|
|
|
NM_001876.4(CPT1A):c.1458+19C>G
|
|
|
|
NM_001876.4(CPT1A):c.1458+8T>G
|
rs2153997771
|
|
|
NM_001876.4(CPT1A):c.1458+9T>C
|
|
|
|
NM_001876.4(CPT1A):c.1459-1G>A
|
rs1057517046
|
|
|
NM_001876.4(CPT1A):c.1459-5G>T
|
|
|
|
NM_001876.4(CPT1A):c.1459-6dup
|
rs767372374
|
|
|
NM_001876.4(CPT1A):c.1459T>G (p.Tyr487Asp)
|
rs985269276
|
|
|
NM_001876.4(CPT1A):c.1471A>G (p.Ile491Val)
|
|
|
|
NM_001876.4(CPT1A):c.1474G>C (p.Asp492His)
|
|
|
|
NM_001876.4(CPT1A):c.1485G>T (p.Gln495His)
|
|
|
|
NM_001876.4(CPT1A):c.1488G>A (p.Leu496=)
|
rs2153997100
|
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
|
NM_001876.4(CPT1A):c.1493del (p.Tyr498fs)
|
|
|
|
NM_001876.4(CPT1A):c.1494T>C (p.Tyr498=)
|
|
|
|
NM_001876.4(CPT1A):c.1497G>A (p.Ala499=)
|
|
|
|
NM_001876.4(CPT1A):c.1509C>T (p.His503=)
|
rs2153997092
|
|
|
NM_001876.4(CPT1A):c.151dup (p.Ile51fs)
|
|
|
|
NM_001876.4(CPT1A):c.1520_1529dup (p.Asn511fs)
|
|
|
|
NM_001876.4(CPT1A):c.1526A>G (p.Asn509Ser)
|
|
|
|
NM_001876.4(CPT1A):c.1528C>A (p.Pro510Thr)
|
|
|
|
NM_001876.4(CPT1A):c.1528C>G (p.Pro510Ala)
|
|
|
|
NM_001876.4(CPT1A):c.1534A>G (p.Ile512Val)
|
|
|
|
NM_001876.4(CPT1A):c.1538C>T (p.Pro513Leu)
|
|
|
|
NM_001876.4(CPT1A):c.153C>T (p.Ile51=)
|
|
|
|
NM_001876.4(CPT1A):c.1542C>T (p.Tyr514=)
|
|
|
|
NM_001876.4(CPT1A):c.1548C>T (p.Thr516=)
|
|
|
|
NM_001876.4(CPT1A):c.1554G>T (p.Leu518=)
|
|
|
|
NM_001876.4(CPT1A):c.1566C>T (p.Ile522=)
|
|
|
|
NM_001876.4(CPT1A):c.1567C>G (p.Pro523Ala)
|
rs1855114160
|
|
|
NM_001876.4(CPT1A):c.1568C>G (p.Pro523Arg)
|
|
|
|
NM_001876.4(CPT1A):c.1568C>T (p.Pro523Leu)
|
|
|
|
NM_001876.4(CPT1A):c.1569G>C (p.Pro523=)
|
rs754717309
|
|
|
NM_001876.4(CPT1A):c.1573dup (p.Glu525fs)
|
rs1855113733
|
|
|
NM_001876.4(CPT1A):c.1575+10G>A
|
rs2153997077
|
|
|
NM_001876.4(CPT1A):c.1575+13T>A
|
|
|
|
NM_001876.4(CPT1A):c.1575+14A>G
|
|
|
|
NM_001876.4(CPT1A):c.1575+16C>A
|
|
|
|
NM_001876.4(CPT1A):c.1575+1G>A
|
rs1282293820
|
|
|
NM_001876.4(CPT1A):c.1575+1G>T
|
|
|
|
NM_001876.4(CPT1A):c.1575A>G (p.Glu525=)
|
|
|
|
NM_001876.4(CPT1A):c.1576-19T>C
|
|
|
|
NM_001876.4(CPT1A):c.1576-20T>G
|
|
|
|
NM_001876.4(CPT1A):c.1576-2A>G
|
rs1555227607
|
|
|
NM_001876.4(CPT1A):c.1576-6C>T
|
|
|
|
NM_001876.4(CPT1A):c.1576-8C>G
|
|
|
|
NM_001876.4(CPT1A):c.1576-8C>T
|
|
|
|
NM_001876.4(CPT1A):c.1576-9TC[4]
|
|
|
|
NM_001876.4(CPT1A):c.1581A>G (p.Gln527=)
|
rs1158620106
|
|
|
NM_001876.4(CPT1A):c.1587T>A (p.Val529=)
|
|
|
|
NM_001876.4(CPT1A):c.1595C>A (p.Thr532Asn)
|
|
|
|
NM_001876.4(CPT1A):c.1596C>G (p.Thr532=)
|
rs750402883
|
|
|
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro)
|
rs1855050882
|
|
|
NM_001876.4(CPT1A):c.159C>A (p.Gly53=)
|
rs781443576
|
|
|
NM_001876.4(CPT1A):c.159C>T (p.Gly53=)
|
|
|
|
NM_001876.4(CPT1A):c.1600C>G (p.Leu534Val)
|
|
|
|
NM_001876.4(CPT1A):c.160G>A (p.Val54Met)
|
rs147389938
|
|
|
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu)
|
rs147389938
|
|
|
NM_001876.4(CPT1A):c.1614T>C (p.Asn538=)
|
rs2153996790
|
|
|
NM_001876.4(CPT1A):c.1618del (p.Leu540fs)
|
|
|
|
NM_001876.4(CPT1A):c.1620G>C (p.Leu540=)
|
rs2153996789
|
|
|
NM_001876.4(CPT1A):c.1630G>A (p.Val544Met)
|
rs2153996787
|
|
|
NM_001876.4(CPT1A):c.1632G>A (p.Val544=)
|
|
|
|
NM_001876.4(CPT1A):c.1638C>T (p.Phe546=)
|
rs148377571
|
|
|
NM_001876.4(CPT1A):c.163T>C (p.Tyr55His)
|
|
|
|
NM_001876.4(CPT1A):c.1653C>T (p.Phe551=)
|
rs1314725177
|
|
|
NM_001876.4(CPT1A):c.1656A>G (p.Val552=)
|
rs1594326863
|
|
|
NM_001876.4(CPT1A):c.1658C>T (p.Ala553Val)
|
rs2153996784
|
|
|
NM_001876.4(CPT1A):c.165C>A (p.Tyr55Ter)
|
|
|
|
NM_001876.4(CPT1A):c.165C>T (p.Tyr55=)
|
|
|
|
NM_001876.4(CPT1A):c.1662T>C (p.Phe554=)
|
rs1855048075
|
|
|
NM_001876.4(CPT1A):c.1662del (p.Phe554fs)
|
|
|
|
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp)
|
rs1566348991
|
|
|
NM_001876.4(CPT1A):c.1670dup (p.Ile558fs)
|
|
|
|
NM_001876.4(CPT1A):c.1674C>A (p.Ile558=)
|
|
|
|
NM_001876.4(CPT1A):c.1675A>G (p.Ile559Val)
|
rs1413070376
|
|
|
NM_001876.4(CPT1A):c.1677C>T (p.Ile559=)
|
rs2153996781
|
|
|
NM_001876.4(CPT1A):c.1685G>C (p.Cys562Ser)
|
|
|
|
NM_001876.4(CPT1A):c.1688G>A (p.Arg563His)
|
|
|
|
NM_001876.4(CPT1A):c.1688G>T (p.Arg563Leu)
|
|
|
|
NM_001876.4(CPT1A):c.168G>A (p.Pro56=)
|
|
|
|
NM_001876.4(CPT1A):c.168G>C (p.Pro56=)
|
|
|
|
NM_001876.4(CPT1A):c.168G>T (p.Pro56=)
|
|
|
|
NM_001876.4(CPT1A):c.1694G>T (p.Ser565Ile)
|
rs200826577
|
|
|
NM_001876.4(CPT1A):c.1695C>T (p.Ser565=)
|
|
|
|
NM_001876.4(CPT1A):c.1698A>G (p.Pro566=)
|
|
|
|
NM_001876.4(CPT1A):c.1701C>T (p.Asp567=)
|
|
|
|
NM_001876.4(CPT1A):c.1704C>T (p.Ala568=)
|
rs1855045353
|
|
|
NM_001876.4(CPT1A):c.1709_1710del (p.Val570fs)
|
rs2153996775
|
|
|
NM_001876.4(CPT1A):c.1710G>A (p.Val570=)
|
|
|
|
NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)
|
|
|
|
NM_001876.4(CPT1A):c.1728G>T (p.Leu576=)
|
rs751342542
|
|
|
NM_001876.4(CPT1A):c.1734C>T (p.His578=)
|
|
|
|
NM_001876.4(CPT1A):c.1740+10G>A
|
rs1342674051
|
|
|
NM_001876.4(CPT1A):c.1740+12C>T
|
|
|
|
NM_001876.4(CPT1A):c.1740+13C>T
|
|
|
|
NM_001876.4(CPT1A):c.1740+14G>A
|
|
|
|
NM_001876.4(CPT1A):c.1740+19G>A
|
|
|
|
NM_001876.4(CPT1A):c.1740+19G>T
|
|
|
|
NM_001876.4(CPT1A):c.1740+1G>A
|
|
|
|
NM_001876.4(CPT1A):c.1740+20G>A
|
|
|
|
NM_001876.4(CPT1A):c.1740+8C>A
|
|
|
|
NM_001876.4(CPT1A):c.1740+9T>C
|
|
|
|
NM_001876.4(CPT1A):c.1741-4C>T
|
rs1249777003
|
|
|
NM_001876.4(CPT1A):c.1741-8T>C
|
rs1479907760
|
|
|
NM_001876.4(CPT1A):c.1743C>T (p.Asp581=)
|
rs761235612
|
|
|
NM_001876.4(CPT1A):c.1745T>G (p.Met582Arg)
|
rs369312504
|
|
|
NM_001876.4(CPT1A):c.1755T>C (p.Phe585=)
|
|
|
|
NM_001876.4(CPT1A):c.1762_1766dup (p.Tyr589Ter)
|
rs2153995212
|
|
|
NM_001876.4(CPT1A):c.1764A>G (p.Thr588=)
|
|
|
|
NM_001876.4(CPT1A):c.1767C>A (p.Tyr589Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1767C>G (p.Tyr589Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1768G>A (p.Glu590Lys)
|
|
|
|
NM_001876.4(CPT1A):c.1775C>T (p.Ser592Phe)
|
|
|
|
NM_001876.4(CPT1A):c.1782C>A (p.Thr594=)
|
|
|
|
NM_001876.4(CPT1A):c.1782C>G (p.Thr594=)
|
|
|
|
NM_001876.4(CPT1A):c.1782C>T (p.Thr594=)
|
rs2153995211
|
|
|
NM_001876.4(CPT1A):c.1783C>T (p.Arg595Trp)
|
|
|
|
NM_001876.4(CPT1A):c.1784G>A (p.Arg595Gln)
|
|
|
|
NM_001876.4(CPT1A):c.1785G>A (p.Arg595=)
|
|
|
|
NM_001876.4(CPT1A):c.1793G>A (p.Arg598Gln)
|
rs878856345
|
|
|
NM_001876.4(CPT1A):c.1796_1797del (p.Glu599fs)
|
|
|
|
NM_001876.4(CPT1A):c.1799G>C (p.Gly600Ala)
|
rs1173933704
|
|
|
NM_001876.4(CPT1A):c.1800G>A (p.Gly600=)
|
rs745966632
|
|
|
NM_001876.4(CPT1A):c.1815G>A (p.Val605=)
|
|
|
|
NM_001876.4(CPT1A):c.1817G>A (p.Arg606His)
|
|
|
|
NM_001876.4(CPT1A):c.1818C>T (p.Arg606=)
|
rs1201271520
|
|
|
NM_001876.4(CPT1A):c.1827C>T (p.Thr609=)
|
|
|
|
NM_001876.4(CPT1A):c.1830T>G (p.Thr610=)
|
rs2153995199
|
|
|
NM_001876.4(CPT1A):c.1839C>A (p.Cys613Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1839C>T (p.Cys613=)
|
|
|
|
NM_001876.4(CPT1A):c.183T>C (p.Ser61=)
|
rs2154001166
|
|
|
NM_001876.4(CPT1A):c.1842C>T (p.Asp614=)
|
|
|
|
NM_001876.4(CPT1A):c.1854C>T (p.Ala618=)
|
rs1380885875
|
|
|
NM_001876.4(CPT1A):c.1855del (p.Met619fs)
|
|
|
|
NM_001876.4(CPT1A):c.1869C>A (p.Ala623=)
|
rs2153995190
|
|
|
NM_001876.4(CPT1A):c.1869C>T (p.Ala623=)
|
rs2153995190
|
|
|
NM_001876.4(CPT1A):c.1875+10C>T
|
|
|
|
NM_001876.4(CPT1A):c.1875+11A>G
|
rs1854659204
|
|
|
NM_001876.4(CPT1A):c.1875+12T>C
|
|
|
|
NM_001876.4(CPT1A):c.1875+13C>G
|
|
|
|
NM_001876.4(CPT1A):c.1875+18T>G
|
|
|
|
NM_001876.4(CPT1A):c.1875+19G>C
|
|
|
|
NM_001876.4(CPT1A):c.1875+5T>C
|
|
|
|
NM_001876.4(CPT1A):c.1875+9C>T
|
|
|
|
NM_001876.4(CPT1A):c.1876-10T>G
|
|
|
|
NM_001876.4(CPT1A):c.1876-17C>T
|
|
|
|
NM_001876.4(CPT1A):c.1876-19C>A
|
|
|
|
NM_001876.4(CPT1A):c.1876-6A>T
|
|
|
|
NM_001876.4(CPT1A):c.1876-9del
|
|
|
|
NM_001876.4(CPT1A):c.1879G>T (p.Glu627Ter)
|
|
|
|
NM_001876.4(CPT1A):c.1881A>G (p.Glu627=)
|
|
|
|
NM_001876.4(CPT1A):c.1882_1885del (p.Gln628fs)
|
|
|
|
NM_001876.4(CPT1A):c.1890G>A (p.Leu630=)
|
rs1854622746
|
|
|
NM_001876.4(CPT1A):c.1895T>A (p.Leu632Ter)
|
rs2153995016
|
|
|
NM_001876.4(CPT1A):c.18A>G (p.Gln6=)
|
rs2154001368
|
|
|
NM_001876.4(CPT1A):c.1902G>A (p.Lys634=)
|
rs1854622367
|
|
|
NM_001876.4(CPT1A):c.1907C>T (p.Ala636Val)
|
rs775438656
|
|
|
NM_001876.4(CPT1A):c.1909T>G (p.Ser637Ala)
|
|
|
|
NM_001876.4(CPT1A):c.1911T>C (p.Ser637=)
|
|
|
|
NM_001876.4(CPT1A):c.1912G>A (p.Glu638Lys)
|
rs1854621732
|
|
|
NM_001876.4(CPT1A):c.1923G>A (p.Gln641=)
|
rs1189618879
|
|
|
NM_001876.4(CPT1A):c.1925del (p.His642fs)
|
|
|
|
NM_001876.4(CPT1A):c.1938C>A (p.Leu646=)
|
|
|
|
NM_001876.4(CPT1A):c.1938C>T (p.Leu646=)
|
|
|
|
NM_001876.4(CPT1A):c.1939G>A (p.Ala647Thr)
|
|
|
|
NM_001876.4(CPT1A):c.193G>A (p.Val65Met)
|
|
|
|
NM_001876.4(CPT1A):c.1941C>T (p.Ala647=)
|
|
|
|
NM_001876.4(CPT1A):c.1947C>G (p.Thr649=)
|
rs766536084
|
|
|
NM_001876.4(CPT1A):c.1958T>C (p.Ile653Thr)
|
|
|
|
NM_001876.4(CPT1A):c.1963C>G (p.Arg655Gly)
|
|
|
|
NM_001876.4(CPT1A):c.1963C>T (p.Arg655Cys)
|
|
|
|
NM_001876.4(CPT1A):c.1967A>G (p.His656Arg)
|
rs1261847888
|
|
|
NM_001876.4(CPT1A):c.1968C>T (p.His656=)
|
|
|
|
NM_001876.4(CPT1A):c.1970T>C (p.Leu657Pro)
|
rs1854618343
|
|
|
NM_001876.4(CPT1A):c.1984G>A (p.Val662Met)
|
|
|
|
NM_001876.4(CPT1A):c.1984dup (p.Val662fs)
|
rs2153994995
|
|
|
NM_001876.4(CPT1A):c.198G>T (p.Val66=)
|
|
|
|
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter)
|
rs1057516800
|
|
|
NM_001876.4(CPT1A):c.2005G>T (p.Val669Leu)
|
rs2153994987
|
|
|
NM_001876.4(CPT1A):c.2010G>A (p.Glu670=)
|
rs2153994986
|
|
|
NM_001876.4(CPT1A):c.2013C>A (p.Ser671=)
|
rs755323437
|
|
|
NM_001876.4(CPT1A):c.2018_2022del (p.Pro672_Phe673insTer)
|
rs1163935346
|
|
|
NM_001876.4(CPT1A):c.2025G>A (p.Lys675=)
|
|
|
|
NM_001876.4(CPT1A):c.2028+11T>A
|
|
|
|
NM_001876.4(CPT1A):c.2028+19T>C
|
|
|
|
NM_001876.4(CPT1A):c.2028+19_2028+21del
|
|
|
|
NM_001876.4(CPT1A):c.2028+1G>A
|
rs2153994981
|
|
|
NM_001876.4(CPT1A):c.2028+2T>G
|
rs1555226417
|
|
|
NM_001876.4(CPT1A):c.2028+9C>A
|
|
|
|
NM_001876.4(CPT1A):c.2028+9C>T
|
rs1300825876
|
|
|
NM_001876.4(CPT1A):c.2029-10C>T
|
rs2153994803
|
|
|
NM_001876.4(CPT1A):c.2029-11del
|
|
|
|
NM_001876.4(CPT1A):c.2029-14G>A
|
|
|
|
NM_001876.4(CPT1A):c.2029-14G>T
|
|
|
|
NM_001876.4(CPT1A):c.2029-16C>T
|
|
|
|
NM_001876.4(CPT1A):c.2029-3T>C
|
|
|
|
NM_001876.4(CPT1A):c.2029-7T>C
|
|
|
|
NM_001876.4(CPT1A):c.2029-8C>T
|
|
|
|
NM_001876.4(CPT1A):c.2031T>A (p.Val677=)
|
rs2153994801
|
|
|
NM_001876.4(CPT1A):c.2037T>C (p.Ser679=)
|
rs1428078221
|
|
|
NM_001876.4(CPT1A):c.2049A>G (p.Arg683=)
|
|
|
|
NM_001876.4(CPT1A):c.2050_2051del (p.Leu684fs)
|
|
|
|
NM_001876.4(CPT1A):c.2061C>G (p.Ser687Arg)
|
rs1269472669
|
|
|
NM_001876.4(CPT1A):c.2061C>T (p.Ser687=)
|
|
|
|
NM_001876.4(CPT1A):c.2062C>T (p.Gln688Ter)
|
|
|
|
NM_001876.4(CPT1A):c.2067C>G (p.Thr689=)
|
rs751692323
|
|
|
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter)
|
rs765161206
|
|
|
NM_001876.4(CPT1A):c.2076G>A (p.Gln692=)
|
|
|
|
NM_001876.4(CPT1A):c.2082G>A (p.Val694=)
|
rs2153994793
|
|
|
NM_001876.4(CPT1A):c.2084A>G (p.Glu695Gly)
|
rs1264713147
|
|
|
NM_001876.4(CPT1A):c.2088G>A (p.Leu696=)
|
rs1594315314
|
|
|
NM_001876.4(CPT1A):c.2088G>C (p.Leu696=)
|
rs1594315314
|
|
|
NM_001876.4(CPT1A):c.2090T>C (p.Phe697Ser)
|
rs2153994789
|
|
|
NM_001876.4(CPT1A):c.2099A>G (p.Glu700Gly)
|
|
|
|
NM_001876.4(CPT1A):c.2103T>C (p.Asn701=)
|
rs1263609871
|
|
|
NM_001876.4(CPT1A):c.2107C>A (p.Pro703Thr)
|
|
|
|
NM_001876.4(CPT1A):c.2108C>T (p.Pro703Leu)
|
|
|
|
NM_001876.4(CPT1A):c.211A>G (p.Thr71Ala)
|
|
|
|
NM_001876.4(CPT1A):c.2122A>G (p.Ser708Gly)
|
|
|
|
NM_001876.4(CPT1A):c.2124C>A (p.Ser708Arg)
|
rs773748237
|
|
|
NM_001876.4(CPT1A):c.2124C>T (p.Ser708=)
|
rs773748237
|
|
|
NM_001876.4(CPT1A):c.2125G>A (p.Gly709Arg)
|
|
|
|
NM_001876.4(CPT1A):c.2128G>C (p.Gly710Arg)
|
|
|
|
NM_001876.4(CPT1A):c.2130G>A (p.Gly710=)
|
|
|
|
NM_001876.4(CPT1A):c.2138G>T (p.Gly713Val)
|
|
|
|
NM_001876.4(CPT1A):c.213A>G (p.Thr71=)
|
|
|
|
NM_001876.4(CPT1A):c.2142+12G>A
|
|
|
|
NM_001876.4(CPT1A):c.2142+19G>A
|
|
|
|
NM_001876.4(CPT1A):c.2142+2T>C
|
|
|
|
NM_001876.4(CPT1A):c.2142+6T>C
|
rs777779540
|
|
|
NM_001876.4(CPT1A):c.2142+8C>A
|
rs147563740
|
|
|
NM_001876.4(CPT1A):c.2143-12C>G
|
|
|
|
NM_001876.4(CPT1A):c.2143-4C>T
|
|
|
|
NM_001876.4(CPT1A):c.2143-6C>T
|
rs931099159
|
|
|
NM_001876.4(CPT1A):c.2148T>C (p.Ala716=)
|
rs1946764266
|
|
|
NM_001876.4(CPT1A):c.2149G>A (p.Asp717Asn)
|
|
|
|
NM_001876.4(CPT1A):c.2157C>G (p.Gly719=)
|
|
|
|
NM_001876.4(CPT1A):c.2166G>A (p.Val722=)
|
rs2153994718
|
|
|
NM_001876.4(CPT1A):c.216G>T (p.Thr72=)
|
|
|
|
NM_001876.4(CPT1A):c.2172C>T (p.Tyr724=)
|
rs2153994715
|
|
|
NM_001876.4(CPT1A):c.2184A>C (p.Gly728=)
|
|
|
|
NM_001876.4(CPT1A):c.2184A>G (p.Gly728=)
|
|
|
|
NM_001876.4(CPT1A):c.2190C>T (p.Asn730=)
|
|
|
|
NM_001876.4(CPT1A):c.2193C>A (p.Leu731=)
|
|
|
|
NM_001876.4(CPT1A):c.2197A>G (p.Asn733Asp)
|
|
|
|
NM_001876.4(CPT1A):c.2205C>T (p.His735=)
|
rs2153994709
|
|
|
NM_001876.4(CPT1A):c.221_241del (p.Tyr74_Ser80del)
|
rs1856241184
|
|
|
NM_001876.4(CPT1A):c.2223T>C (p.Ser741=)
|
rs947049863
|
|
|
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter)
|
rs398123654
|
|
|
NM_001876.4(CPT1A):c.222C>G (p.Tyr74Ter)
|
|
|
|
NM_001876.4(CPT1A):c.2235+14G>A
|
|
|
|
NM_001876.4(CPT1A):c.2235+14G>T
|
|
|
|
NM_001876.4(CPT1A):c.2235+15A>C
|
|
|
|
NM_001876.4(CPT1A):c.2235+16A>G
|
|
|
|
NM_001876.4(CPT1A):c.2235+20C>A
|
|
|
|
NM_001876.4(CPT1A):c.2235+8T>C
|
|
|
|
NM_001876.4(CPT1A):c.2235+9G>A
|
rs1946761066
|
|
|
NM_001876.4(CPT1A):c.2236-10T>C
|
|
|
|
NM_001876.4(CPT1A):c.2236-14T>C
|
|
|
|
NM_001876.4(CPT1A):c.2236-14T>G
|
rs781040808
|
|
|
NM_001876.4(CPT1A):c.2236-16T>C
|
|
|
|
NM_001876.4(CPT1A):c.2236-16_2236-10dup
|
|
|
|
NM_001876.4(CPT1A):c.2236-7A>C
|
|
|
|
NM_001876.4(CPT1A):c.2236-7A>G
|
rs770912592
|
|
|
NM_001876.4(CPT1A):c.2236G>T (p.Asp746Tyr)
|
|
|
|
NM_001876.4(CPT1A):c.2238T>G (p.Asp746Glu)
|
rs2153994514
|
|
|
NM_001876.4(CPT1A):c.223G>A (p.Ala75Thr)
|
|
|
|
NM_001876.4(CPT1A):c.2260C>A (p.Leu754Met)
|
|
|
|
NM_001876.4(CPT1A):c.2271A>C (p.Ala757=)
|
rs2153994511
|
|
|
NM_001876.4(CPT1A):c.2280C>T (p.Asp760=)
|
rs2153994510
|
|
|
NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)
|
|
|
|
NM_001876.4(CPT1A):c.228G>A (p.Lys76=)
|
rs2154001163
|
|
|
NM_001876.4(CPT1A):c.2292G>A (p.Leu764=)
|
|
|
|
NM_001876.4(CPT1A):c.2293T>C (p.Phe765Leu)
|
rs1946717191
|
|
|
NM_001876.4(CPT1A):c.2298T>G (p.Gly766=)
|
|
|
|
NM_001876.4(CPT1A):c.2309A>G (p.Asn770Ser)
|
|
|
|
NM_001876.4(CPT1A):c.2313C>T (p.Ser771=)
|
rs2153994502
|
|
|
NM_001876.4(CPT1A):c.2322A>G (p.Ter774=)
|
rs1170837033
|
|
|
NM_001876.4(CPT1A):c.239C>T (p.Ser80Leu)
|
|
|
|
NM_001876.4(CPT1A):c.240G>C (p.Ser80=)
|
|
|
|
NM_001876.4(CPT1A):c.243A>G (p.Leu81=)
|
rs2154001161
|
|
|
NM_001876.4(CPT1A):c.244G>A (p.Gly82Arg)
|
rs2154001160
|
|
|
NM_001876.4(CPT1A):c.251T>C (p.Ile84Thr)
|
|
|
|
NM_001876.4(CPT1A):c.261C>T (p.Ile87=)
|
rs2154001159
|
|
|
NM_001876.4(CPT1A):c.277A>C (p.Thr93Pro)
|
rs2154001156
|
|
|
NM_001876.4(CPT1A):c.278C>T (p.Thr93Met)
|
|
|
|
NM_001876.4(CPT1A):c.279G>A (p.Thr93=)
|
|
|
|
NM_001876.4(CPT1A):c.279G>T (p.Thr93=)
|
rs375467139
|
|
|
NM_001876.4(CPT1A):c.281+13G>A
|
|
|
|
NM_001876.4(CPT1A):c.281+7A>T
|
|
|
|
NM_001876.4(CPT1A):c.281+8A>C
|
|
|
|
NM_001876.4(CPT1A):c.281C>T (p.Ala94Val)
|
|
|
|
NM_001876.4(CPT1A):c.282-10G>A
|
rs1376516631
|
|
|
NM_001876.4(CPT1A):c.282-10G>C
|
rs1376516631
|
|
|
NM_001876.4(CPT1A):c.282-11T>C
|
|
|
|
NM_001876.4(CPT1A):c.282-14G>T
|
|
|
|
NM_001876.4(CPT1A):c.282-6C>T
|
|
|
|
NM_001876.4(CPT1A):c.285C>T (p.Asn95=)
|
|
|
|
NM_001876.4(CPT1A):c.288C>T (p.Cys96=)
|
|
|
|
NM_001876.4(CPT1A):c.289A>G (p.Met97Val)
|
|
|
|
NM_001876.4(CPT1A):c.290T>C (p.Met97Thr)
|
|
|
|
NM_001876.4(CPT1A):c.294C>T (p.Ser98=)
|
|
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
|
NM_001876.4(CPT1A):c.2T>G (p.Met1Arg)
|
|
|
|
NM_001876.4(CPT1A):c.303G>C (p.Thr101=)
|
rs553777167
|
|
|
NM_001876.4(CPT1A):c.304A>C (p.Lys102Gln)
|
|
|
|
NM_001876.4(CPT1A):c.309C>T (p.Asn103=)
|
rs200536266
|
|
|
NM_001876.4(CPT1A):c.310G>A (p.Val104Met)
|
|
|
|
NM_001876.4(CPT1A):c.312G>C (p.Val104=)
|
rs2154000830
|
|
|
NM_001876.4(CPT1A):c.315C>T (p.Val105=)
|
rs2154000829
|
|
|
NM_001876.4(CPT1A):c.321C>A (p.Gly107=)
|
|
|
|
NM_001876.4(CPT1A):c.339C>A (p.Gly113=)
|
rs2154000828
|
|
|
NM_001876.4(CPT1A):c.340C>T (p.Leu114=)
|
rs1407504305
|
|
|
NM_001876.4(CPT1A):c.358G>A (p.Val120Ile)
|
|
|
|
NM_001876.4(CPT1A):c.360C>T (p.Val120=)
|
|
|
|
NM_001876.4(CPT1A):c.36C>T (p.Phe12=)
|
rs2154001367
|
|
|
NM_001876.4(CPT1A):c.370T>C (p.Tyr124His)
|
|
|
|
NM_001876.4(CPT1A):c.375C>A (p.Ser125=)
|
|
|
|
NM_001876.4(CPT1A):c.384G>A (p.Val128=)
|
rs2154000820
|
|
|
NM_001876.4(CPT1A):c.387G>A (p.Leu129=)
|
|
|
|
NM_001876.4(CPT1A):c.390C>A (p.Leu130=)
|
rs188016546
|
|
|
NM_001876.4(CPT1A):c.398A>C (p.His133Pro)
|
rs2154000819
|
|
|
NM_001876.4(CPT1A):c.39G>A (p.Thr13=)
|
|
|
|
NM_001876.4(CPT1A):c.400G>A (p.Gly134Arg)
|
|
|
|
NM_001876.4(CPT1A):c.405G>A (p.Trp135Ter)
|
|
|
|
NM_001876.4(CPT1A):c.417G>C (p.Glu139Asp)
|
|
|
|
NM_001876.4(CPT1A):c.418C>T (p.His140Tyr)
|
|
|
|
NM_001876.4(CPT1A):c.433C>G (p.Arg145Gly)
|
|
|
|
NM_001876.4(CPT1A):c.433C>T (p.Arg145Cys)
|
rs763241992
|
|
|
NM_001876.4(CPT1A):c.441C>T (p.Thr147=)
|
|
|
|
NM_001876.4(CPT1A):c.444G>A (p.Lys148=)
|
|
|
|
NM_001876.4(CPT1A):c.446T>C (p.Ile149Thr)
|
|
|
|
NM_001876.4(CPT1A):c.453+18T>C
|
|
|
|
NM_001876.4(CPT1A):c.453+7G>A
|
|
|
|
NM_001876.4(CPT1A):c.453+9G>C
|
rs183694834
|
|
|
NM_001876.4(CPT1A):c.454-10C>G
|
rs748910520
|
|
|
NM_001876.4(CPT1A):c.454-10C>T
|
rs748910520
|
|
|
NM_001876.4(CPT1A):c.454-12C>T
|
|
|
|
NM_001876.4(CPT1A):c.454-12CT[3]
|
|
|
|
NM_001876.4(CPT1A):c.454-14T>C
|
|
|
|
NM_001876.4(CPT1A):c.454-16A>C
|
|
|
|
NM_001876.4(CPT1A):c.454-5T>C
|
|
|
|
NM_001876.4(CPT1A):c.454-6C>A
|
rs769462031
|
|
|
NM_001876.4(CPT1A):c.454-6C>T
|
rs769462031
|
|
|
NM_001876.4(CPT1A):c.457A>G (p.Met153Val)
|
|
|
|
NM_001876.4(CPT1A):c.459G>A (p.Met153Ile)
|
|
|
|
NM_001876.4(CPT1A):c.465del (p.Ile156fs)
|
rs1855979917
|
|
|
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)
|
rs80356782
|
|
|
NM_001876.4(CPT1A):c.479G>A (p.Arg160Gln)
|
|
|
|
NM_001876.4(CPT1A):c.47C>T (p.Pro16Leu)
|
rs747575697
|
|
|
NM_001876.4(CPT1A):c.48G>A (p.Pro16=)
|
|
|
|
NM_001876.4(CPT1A):c.48G>C (p.Pro16=)
|
rs756237180
|
|
|
NM_001876.4(CPT1A):c.491T>C (p.Leu164Ser)
|
rs2154000557
|
|
|
NM_001876.4(CPT1A):c.507A>C (p.Thr169=)
|
rs547886138
|
|
|
NM_001876.4(CPT1A):c.507A>G (p.Thr169=)
|
rs547886138
|
|
|
NM_001876.4(CPT1A):c.528C>A (p.Val176=)
|
rs917723842
|
|
|
NM_001876.4(CPT1A):c.528C>G (p.Val176=)
|
|
|
|
NM_001876.4(CPT1A):c.530C>T (p.Pro177Leu)
|
|
|
|
NM_001876.4(CPT1A):c.530del (p.Pro177fs)
|
rs2154000550
|
|
|
NM_001876.4(CPT1A):c.531G>A (p.Pro177=)
|
|
|
|
NM_001876.4(CPT1A):c.531G>T (p.Pro177=)
|
|
|
|
NM_001876.4(CPT1A):c.534T>C (p.Ala178=)
|
rs2154000549
|
|
|
NM_001876.4(CPT1A):c.535G>A (p.Val179Ile)
|
rs542856213
|
|
|
NM_001876.4(CPT1A):c.539_540del (p.Lys180fs)
|
rs1319341024
|
|
|
NM_001876.4(CPT1A):c.553A>C (p.Arg185=)
|
|
|
|
NM_001876.4(CPT1A):c.555+6T>C
|
|
|
|
NM_001876.4(CPT1A):c.555+9G>A
|
rs2154000543
|
|
|
NM_001876.4(CPT1A):c.556-12del
|
rs113037606
|
|
|
NM_001876.4(CPT1A):c.556-17del
|
|
|
|
NM_001876.4(CPT1A):c.556-17dup
|
|
|
|
NM_001876.4(CPT1A):c.556-18T>C
|
|
|
|
NM_001876.4(CPT1A):c.556-4C>T
|
rs2154000205
|
|
|
NM_001876.4(CPT1A):c.556-5C>G
|
|
|
|
NM_001876.4(CPT1A):c.559C>T (p.Leu187=)
|
|
|
|
NM_001876.4(CPT1A):c.562C>T (p.Gln188Ter)
|
|
|
|
NM_001876.4(CPT1A):c.567G>A (p.Ser189=)
|
rs1366738895
|
|
|
NM_001876.4(CPT1A):c.567G>C (p.Ser189=)
|
|
|
|
NM_001876.4(CPT1A):c.570G>A (p.Val190=)
|
|
|
|
NM_001876.4(CPT1A):c.573G>A (p.Arg191=)
|
|
|
|
NM_001876.4(CPT1A):c.597C>T (p.Phe199=)
|
rs772640633
|
|
|
NM_001876.4(CPT1A):c.602G>A (p.Arg201Gln)
|
|
|
|
NM_001876.4(CPT1A):c.603G>A (p.Arg201=)
|
rs2228504
|
|
|
NM_001876.4(CPT1A):c.603G>T (p.Arg201=)
|
|
|
|
NM_001876.4(CPT1A):c.61C>T (p.Leu21=)
|
rs1856357025
|
|
|
NM_001876.4(CPT1A):c.657G>A (p.Trp219Ter)
|
|
|
|
NM_001876.4(CPT1A):c.65G>A (p.Arg22Gln)
|
|
|
|
NM_001876.4(CPT1A):c.661T>C (p.Leu221=)
|
|
|
|
NM_001876.4(CPT1A):c.668T>G (p.Leu223Ter)
|
rs2154000188
|
|
|
NM_001876.4(CPT1A):c.683C>G (p.Ala228Gly)
|
|
|
|
NM_001876.4(CPT1A):c.687A>G (p.Thr229=)
|
|
|
|
NM_001876.4(CPT1A):c.693+10T>C
|
|
|
|
NM_001876.4(CPT1A):c.693+11A>G
|
|
|
|
NM_001876.4(CPT1A):c.693+14C>T
|
|
|
|
NM_001876.4(CPT1A):c.693+15A>G
|
|
|
|
NM_001876.4(CPT1A):c.693+16C>T
|
|
|
|
NM_001876.4(CPT1A):c.693+1G>A
|
rs1055176086
|
|
|
NM_001876.4(CPT1A):c.693+9G>A
|
|
|
|
NM_001876.4(CPT1A):c.693+9G>T
|
|
|
|
NM_001876.4(CPT1A):c.694-15G>A
|
|
|
|
NM_001876.4(CPT1A):c.694-17G>A
|
|
|
|
NM_001876.4(CPT1A):c.694-20C>G
|
|
|
|
NM_001876.4(CPT1A):c.694-4C>A
|
|
|
|
NM_001876.4(CPT1A):c.694-6C>T
|
|
|
|
NM_001876.4(CPT1A):c.704G>A (p.Trp235Ter)
|
|
|
|
NM_001876.4(CPT1A):c.717C>G (p.Tyr239Ter)
|
|
|
|
NM_001876.4(CPT1A):c.723C>T (p.Tyr241=)
|
|
|
|
NM_001876.4(CPT1A):c.727C>A (p.Arg243=)
|
rs779893091
|
|
|
NM_001876.4(CPT1A):c.732A>T (p.Gly244=)
|
|
|
|
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)
|
rs767241290
|
|
|
NM_001876.4(CPT1A):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_001876.4(CPT1A):c.742del (p.Leu248fs)
|
rs2154000018
|
|
|
NM_001876.4(CPT1A):c.74A>G (p.His25Arg)
|
|
|
|
NM_001876.4(CPT1A):c.750G>A (p.Val250=)
|
|
|
|
NM_001876.4(CPT1A):c.756C>T (p.Ser252=)
|
rs1855767126
|
|
|
NM_001876.4(CPT1A):c.759C>T (p.Asn253=)
|
|
|
|
NM_001876.4(CPT1A):c.75T>C (p.His25=)
|
rs2154001365
|
|
|
NM_001876.4(CPT1A):c.768C>A (p.Ala256=)
|
|
|
|
NM_001876.4(CPT1A):c.76G>T (p.Glu26Ter)
|
rs2154001364
|
|
|
NM_001876.4(CPT1A):c.771+10C>T
|
|
|
|
NM_001876.4(CPT1A):c.771+12C>T
|
|
|
|
NM_001876.4(CPT1A):c.771+12del
|
|
|
|
NM_001876.4(CPT1A):c.771+13G>A
|
rs996371611
|
|
|
NM_001876.4(CPT1A):c.771+15C>T
|
|
|
|
NM_001876.4(CPT1A):c.771+17G>A
|
|
|
|
NM_001876.4(CPT1A):c.771+17G>C
|
rs201034164
|
|
|
NM_001876.4(CPT1A):c.771+1G>A
|
|
|
|
NM_001876.4(CPT1A):c.771+1G>C
|
rs1555230494
|
|
|
NM_001876.4(CPT1A):c.771+20C>A
|
|
|
|
NM_001876.4(CPT1A):c.771+20C>T
|
|
|
|
NM_001876.4(CPT1A):c.771+8C>T
|
|
|
|
NM_001876.4(CPT1A):c.771+9A>C
|
|
|
|
NM_001876.4(CPT1A):c.772-12G>C
|
|
|
|
NM_001876.4(CPT1A):c.772-20C>A
|
|
|
|
NM_001876.4(CPT1A):c.772-7T>C
|
|
|
|
NM_001876.4(CPT1A):c.772-8C>G
|
|
|
|
NM_001876.4(CPT1A):c.772-9G>T
|
rs936271013
|
|
|
NM_001876.4(CPT1A):c.772G>T (p.Asp258Tyr)
|
|
|
|
NM_001876.4(CPT1A):c.775C>T (p.Leu259=)
|
rs1331246262
|
|
|
NM_001876.4(CPT1A):c.792A>G (p.Pro264=)
|
|
|
|
NM_001876.4(CPT1A):c.795T>C (p.Thr265=)
|
rs2153999816
|
|
|
NM_001876.4(CPT1A):c.798C>T (p.His266=)
|
|
|
|
NM_001876.4(CPT1A):c.804G>A (p.Gln268=)
|
|
|
|
NM_001876.4(CPT1A):c.814G>A (p.Ala272Thr)
|
|
|
|
NM_001876.4(CPT1A):c.817G>A (p.Gly273Ser)
|
|
|
|
NM_001876.4(CPT1A):c.841C>G (p.Leu281Val)
|
|
|
|
NM_001876.4(CPT1A):c.851G>T (p.Arg284Leu)
|
|
|
|
NM_001876.4(CPT1A):c.862C>T (p.Arg288Trp)
|
|
|
|
NM_001876.4(CPT1A):c.873C>T (p.Ile291=)
|
rs2153999800
|
|
|
NM_001876.4(CPT1A):c.879+10C>T
|
rs2153999798
|
|
|
NM_001876.4(CPT1A):c.879+17C>T
|
|
|
|
NM_001876.4(CPT1A):c.879A>G (p.Pro293=)
|
|
|
|
NM_001876.4(CPT1A):c.880-15A>G
|
|
|
|
NM_001876.4(CPT1A):c.880-16T>C
|
|
|
|
NM_001876.4(CPT1A):c.880-17A>G
|
|
|
|
NM_001876.4(CPT1A):c.880-19A>C
|
|
|
|
NM_001876.4(CPT1A):c.884G>A (p.Arg295His)
|
|
|
|
NM_001876.4(CPT1A):c.892G>A (p.Gly298Arg)
|
|
|
|
NM_001876.4(CPT1A):c.896C>G (p.Ser299Cys)
|
|
|
|
NM_001876.4(CPT1A):c.899C>T (p.Thr300Met)
|
|
|
|
NM_001876.4(CPT1A):c.900G>A (p.Thr300=)
|
rs1273814063
|
|
|
NM_001876.4(CPT1A):c.915C>A (p.Ser305=)
|
|
|
|
NM_001876.4(CPT1A):c.917C>T (p.Ala306Val)
|
|
|
|
NM_001876.4(CPT1A):c.921G>A (p.Gln307=)
|
|
|
|
NM_001876.4(CPT1A):c.924G>A (p.Trp308Ter)
|
rs2153999602
|
|
|
NM_001876.4(CPT1A):c.927G>T (p.Glu309Asp)
|
|
|
|
NM_001876.4(CPT1A):c.928C>T (p.Arg310Trp)
|
|
|
|
NM_001876.4(CPT1A):c.931A>G (p.Met311Val)
|
|
|
|
NM_001876.4(CPT1A):c.937A>G (p.Asn313Asp)
|
rs2153999597
|
|
|
NM_001876.4(CPT1A):c.957A>G (p.Gly319=)
|
rs748754977
|
|
|
NM_001876.4(CPT1A):c.967+10G>A
|
rs764374582
|
|
|
NM_001876.4(CPT1A):c.967+10G>C
|
rs764374582
|
|
|
NM_001876.4(CPT1A):c.967+13T>C
|
|
|
|
NM_001876.4(CPT1A):c.967+20G>A
|
|
|
|
NM_001876.4(CPT1A):c.967+9A>G
|
rs757693731
|
|
|
NM_001876.4(CPT1A):c.968-11G>T
|
|
|
|
NM_001876.4(CPT1A):c.968-18A>G
|
|
|
|
NM_001876.4(CPT1A):c.968-5C>T
|
rs1855420167
|
|
|
NM_001876.4(CPT1A):c.968-9C>T
|
|
|
|
NM_001876.4(CPT1A):c.969C>T (p.Asp323=)
|
|
|
|
NM_001876.4(CPT1A):c.972C>A (p.Thr324=)
|
|
|
|
NM_001876.4(CPT1A):c.975C>A (p.Ile325=)
|
|
|
|
NM_001876.4(CPT1A):c.981C>T (p.His327=)
|
rs2153998421
|
|
|
NM_001876.4(CPT1A):c.991A>G (p.Ser331Gly)
|
|
|
|
NM_001876.4(CPT1A):c.99C>T (p.Leu33=)
|
|
|
|
NM_001876.4(CPT1A):c.99_102del (p.Ser34fs)
|
|
|
|
NM_001918.5(DBT):c.1002G>T (p.Gln334His)
|
|
|
|
NM_001918.5(DBT):c.1014T>C (p.Tyr338=)
|
|
|
|
NM_001918.5(DBT):c.1017+10G>A
|
|
|
|
NM_001918.5(DBT):c.1017+11C>G
|
|
|
|
NM_001918.5(DBT):c.1017+15G>A
|
|
|
|
NM_001918.5(DBT):c.1017+16T>A
|
|
|
|
NM_001918.5(DBT):c.1017+1G>A
|
|
|
|
NM_001918.5(DBT):c.1017+1G>T
|
|
|
|
NM_001918.5(DBT):c.1018-10dup
|
rs1287581664
|
|
|
NM_001918.5(DBT):c.1018-15T>C
|
|
|
|
NM_001918.5(DBT):c.1018-16A>T
|
|
|
|
NM_001918.5(DBT):c.1018-17A>G
|
|
|
|
NM_001918.5(DBT):c.1018-2A>T
|
|
|
|
NM_001918.5(DBT):c.1018-3del
|
rs2100780335
|
|
|
NM_001918.5(DBT):c.1018-4T>C
|
|
|
|
NM_001918.5(DBT):c.1018-7T>G
|
rs2100780347
|
|
|
NM_001918.5(DBT):c.1018-9A>G
|
rs2100780356
|
|
|
NM_001918.5(DBT):c.1018-9del
|
rs2100780359
|
|
|
NM_001918.5(DBT):c.1032T>C (p.Ile344=)
|
|
|
|
NM_001918.5(DBT):c.1056G>A (p.Gln352=)
|
rs2100780252
|
|
|
NM_001918.5(DBT):c.1061T>C (p.Leu354Ser)
|
rs1296308942
|
|
|
NM_001918.5(DBT):c.1065T>A (p.Ile355=)
|
|
|
|
NM_001918.5(DBT):c.1068C>T (p.Val356=)
|
|
|
|
NM_001918.5(DBT):c.1077G>A (p.Val359=)
|
|
|
|
NM_001918.5(DBT):c.1089G>A (p.Gln363=)
|
rs2100780197
|
|
|
NM_001918.5(DBT):c.1098T>G (p.Ser366=)
|
rs1422504862
|
|
|
NM_001918.5(DBT):c.1107C>T (p.Asp369=)
|
rs2100780132
|
|
|
NM_001918.5(DBT):c.1116T>C (p.Thr372=)
|
|
|
|
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)
|
rs768389398
|
|
|
NM_001918.5(DBT):c.1131C>T (p.Leu377=)
|
rs1661802261
|
|
|
NM_001918.5(DBT):c.113_114del (p.Cys38fs)
|
rs2100844690
|
|
|
NM_001918.5(DBT):c.1140G>A (p.Leu380=)
|
rs2100780071
|
|
|
NM_001918.5(DBT):c.1152T>C (p.Ser384=)
|
rs2100780004
|
|
|
NM_001918.5(DBT):c.1158C>G (p.Leu386=)
|
rs139943180
|
|
|
NM_001918.5(DBT):c.1170T>G (p.Asp390Glu)
|
rs1661798658
|
|
|
NM_001918.5(DBT):c.1173T>C (p.Leu391=)
|
|
|
|
NM_001918.5(DBT):c.1185A>T (p.Thr395=)
|
|
|
|
NM_001918.5(DBT):c.1191T>A (p.Thr397=)
|
rs2100779891
|
|
|
NM_001918.5(DBT):c.1191T>C (p.Thr397=)
|
rs2100779891
|
|
|
NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)
|
rs1553229654
|
|
|
NM_001918.5(DBT):c.1195del (p.Ser399fs)
|
rs2100779888
|
|
|
NM_001918.5(DBT):c.1200C>T (p.Asn400=)
|
|
|
|
NM_001918.5(DBT):c.1209+9T>C
|
|
|
|
NM_001918.5(DBT):c.1209+9_1209+10dup
|
|
|
|
NM_001918.5(DBT):c.120T>C (p.Phe40=)
|
|
|
|
NM_001918.5(DBT):c.1210-10del
|
rs398123658
|
|
|
NM_001918.5(DBT):c.1210-10dup
|
rs398123658
|
|
|
NM_001918.5(DBT):c.1210-11_1210-10inv
|
|
|
|
NM_001918.5(DBT):c.1210-12T>A
|
|
|
|
NM_001918.5(DBT):c.1210-12T>G
|
|
|
|
NM_001918.5(DBT):c.1210-1G>C
|
|
|
|
NM_001918.5(DBT):c.1210-3T>A
|
|
|
|
NM_001918.5(DBT):c.1210-4del
|
rs201117345
|
|
|
NM_001918.5(DBT):c.1210-4dup
|
rs201117345
|
|
|
NM_001918.5(DBT):c.1210-8_1210-7insT
|
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8insTT
|
|
|
|
NM_001918.5(DBT):c.1210-9_1210-8inv
|
|
|
|
NM_001918.5(DBT):c.1212T>C (p.Ile404=)
|
|
|
|
NM_001918.5(DBT):c.1212T>G (p.Ile404Met)
|
rs2100779467
|
|
|
NM_001918.5(DBT):c.1215T>C (p.Gly405=)
|
|
|
|
NM_001918.5(DBT):c.1219A>G (p.Thr407Ala)
|
|
|
|
NM_001918.5(DBT):c.1221C>T (p.Thr407=)
|
|
|
|
NM_001918.5(DBT):c.1227C>T (p.Ala409=)
|
|
|
|
NM_001918.5(DBT):c.1230A>C (p.Lys410Asn)
|
|
|
|
NM_001918.5(DBT):c.1232C>T (p.Pro411Leu)
|
rs2100779419
|
|
|
NM_001918.5(DBT):c.1238T>C (p.Ile413Thr)
|
|
|
|
NM_001918.5(DBT):c.123T>C (p.Gly41=)
|
rs2100844658
|
|
|
NM_001918.5(DBT):c.1245A>G (p.Pro415=)
|
|
|
|
NM_001918.5(DBT):c.1248T>C (p.Pro416=)
|
rs2100779369
|
|
|
NM_001918.5(DBT):c.1251A>G (p.Glu417=)
|
|
|
|
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
|
|
|
|
NM_001918.5(DBT):c.1260T>C (p.Ile420=)
|
|
|
|
NM_001918.5(DBT):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_001918.5(DBT):c.1264dup (p.Ala422fs)
|
rs1401829291
|
|
|
NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)
|
rs794727262
|
|
|
NM_001918.5(DBT):c.1275A>G (p.Ser425=)
|
rs1570806049
|
|
|
NM_001918.5(DBT):c.1276A>G (p.Ile426Val)
|
rs1471693880
|
|
|
NM_001918.5(DBT):c.1281+10T>C
|
rs2100779244
|
|
|
NM_001918.5(DBT):c.1281+13G>A
|
|
|
|
NM_001918.5(DBT):c.1281+18C>T
|
|
|
|
NM_001918.5(DBT):c.1281+1G>C
|
rs1557943881
|
|
|
NM_001918.5(DBT):c.1281+2T>A
|
rs2100779270
|
|
|
NM_001918.5(DBT):c.1281+8_1281+20del
|
|
|
|
NM_001918.5(DBT):c.1281+9A>G
|
|
|
|
NM_001918.5(DBT):c.1282-10_1282-9dup
|
|
|
|
NM_001918.5(DBT):c.1282-11_1282-9del
|
|
|
|
NM_001918.5(DBT):c.1282-12_1282-9del
|
rs1557939390
|
|
|
NM_001918.5(DBT):c.1282-13T>A
|
rs1374973220
|
|
|
NM_001918.5(DBT):c.1282-13T>C
|
|
|
|
NM_001918.5(DBT):c.1282-14T>A
|
rs1315625069
|
|
|
NM_001918.5(DBT):c.1282-14_1282-9del
|
rs760164623
|
|
|
NM_001918.5(DBT):c.1282-15T>A
|
rs763988935
|
|
|
NM_001918.5(DBT):c.1282-15_1282-9del
|
rs1557939402
|
|
|
NM_001918.5(DBT):c.1282-16T>A
|
|
|
|
NM_001918.5(DBT):c.1282-16T>C
|
|
|
|
NM_001918.5(DBT):c.1282-16_1282-9del
|
|
|
|
NM_001918.5(DBT):c.1282-18T>C
|
|
|
|
NM_001918.5(DBT):c.1282-18_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-19T>C
|
|
|
|
NM_001918.5(DBT):c.1282-19_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-20T>C
|
|
|
|
NM_001918.5(DBT):c.1282-20_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-21_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-21_1282-10dup
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-22_1282-10del
|
|
|
|
NM_001918.5(DBT):c.1282-23_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-24_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-24_1282-10dup
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-25_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-26_1282-10del
|
rs752915898
|
|
|
NM_001918.5(DBT):c.1282-4C>A
|
rs1410431336
|
|
|
NM_001918.5(DBT):c.1282-4C>T
|
rs1410431336
|
|
|
NM_001918.5(DBT):c.1282-7T>C
|
|
|
|
NM_001918.5(DBT):c.1282-8A>G
|
rs764781766
|
|
|
NM_001918.5(DBT):c.1282-9C>A
|
rs1404199687
|
|
|
NM_001918.5(DBT):c.1282-9dup
|
|
|
|
NM_001918.5(DBT):c.1283C>T (p.Ala428Val)
|
rs2100761237
|
|
|
NM_001918.5(DBT):c.1292G>C (p.Arg431Pro)
|
rs776490043
|
|
|
NM_001918.5(DBT):c.129T>G (p.Pro43=)
|
|
|
|
NM_001918.5(DBT):c.1309G>A (p.Glu437Lys)
|
rs772490888
|
|
|
NM_001918.5(DBT):c.1314A>G (p.Val438=)
|
|
|
|
NM_001918.5(DBT):c.1317T>C (p.Tyr439=)
|
rs2100761130
|
|
|
NM_001918.5(DBT):c.1324C>T (p.Gln442Ter)
|
rs1276927916
|
|
|
NM_001918.5(DBT):c.1333_1336del (p.Met444_Asn445insTer)
|
rs2100761028
|
|
|
NM_001918.5(DBT):c.1342_1351del (p.Trp448fs)
|
|
|
|
NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)
|
rs749366506
|
|
|
NM_001918.5(DBT):c.1347A>G (p.Ser449=)
|
|
|
|
NM_001918.5(DBT):c.1372G>T (p.Ala458Ser)
|
|
|
|
NM_001918.5(DBT):c.1375A>G (p.Thr459Ala)
|
|
|
|
NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)
|
rs1553228626
|
|
|
NM_001918.5(DBT):c.1383A>C (p.Ser461=)
|
rs2100760925
|
|
|
NM_001918.5(DBT):c.1385G>C (p.Arg462Pro)
|
rs750594890
|
|
|
NM_001918.5(DBT):c.1389C>T (p.Phe463=)
|
rs886044964
|
|
|
NM_001918.5(DBT):c.138G>A (p.Lys46=)
|
|
|
|
NM_001918.5(DBT):c.1394A>G (p.Asn465Ser)
|
|
|
|
NM_001918.5(DBT):c.1398G>A (p.Leu466=)
|
rs1661085210
|
|
|
NM_001918.5(DBT):c.1407C>G (p.Ser469=)
|
rs2100760846
|
|
|
NM_001918.5(DBT):c.1410T>C (p.Tyr470=)
|
rs2100760833
|
|
|
NM_001918.5(DBT):c.1419C>T (p.Asn473=)
|
|
|
|
NM_001918.5(DBT):c.1420C>A (p.Pro474Thr)
|
|
|
|
NM_001918.5(DBT):c.143_146dup (p.His49fs)
|
rs1384034981
|
|
|
NM_001918.5(DBT):c.1441C>T (p.Leu481=)
|
|
|
|
NM_001918.5(DBT):c.14G>A (p.Arg5His)
|
|
|
|
NM_001918.5(DBT):c.159C>T (p.Phe53=)
|
rs772209054
|
|
|
NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)
|
rs771945254
|
|
|
NM_001918.5(DBT):c.16A>G (p.Met6Val)
|
|
|
|
NM_001918.5(DBT):c.175+10A>G
|
|
|
|
NM_001918.5(DBT):c.175+16A>G
|
|
|
|
NM_001918.5(DBT):c.175+1G>A
|
rs2100844517
|
|
|
NM_001918.5(DBT):c.175+7A>T
|
|
|
|
NM_001918.5(DBT):c.176-15C>G
|
|
|
|
NM_001918.5(DBT):c.176-15C>T
|
|
|
|
NM_001918.5(DBT):c.17dup (p.Met6fs)
|
rs2100772715
|
|
|
NM_001918.5(DBT):c.181C>T (p.Arg61Cys)
|
|
|
|
NM_001918.5(DBT):c.182G>A (p.Arg61His)
|
|
|
|
NM_001918.5(DBT):c.207C>G (p.Leu69=)
|
|
|
|
NM_001918.5(DBT):c.207C>T (p.Leu69=)
|
|
|
|
NM_001918.5(DBT):c.215T>C (p.Ile72Thr)
|
rs565879664
|
|
|
NM_001918.5(DBT):c.225G>A (p.Gly75=)
|
rs2100834832
|
|
|
NM_001918.5(DBT):c.228T>C (p.Ile76=)
|
|
|
|
NM_001918.5(DBT):c.230G>A (p.Arg77Lys)
|
|
|
|
NM_001918.5(DBT):c.241_242del (p.Thr80_Val81insTer)
|
rs2100834784
|
|
|
NM_001918.5(DBT):c.243T>G (p.Val81=)
|
|
|
|
NM_001918.5(DBT):c.246A>G (p.Lys82=)
|
|
|
|
NM_001918.5(DBT):c.247del (p.Glu83fs)
|
|
|
|
NM_001918.5(DBT):c.251+15A>G
|
|
|
|
NM_001918.5(DBT):c.251+17A>G
|
|
|
|
NM_001918.5(DBT):c.251+18A>G
|
|
|
|
NM_001918.5(DBT):c.251+19dup
|
rs201469612
|
|
|
NM_001918.5(DBT):c.251+8A>T
|
|
|
|
NM_001918.5(DBT):c.251+9A>G
|
|
|
|
NM_001918.5(DBT):c.252-12T>G
|
|
|
|
NM_001918.5(DBT):c.252-1G>T
|
rs1663522846
|
|
|
NM_001918.5(DBT):c.252-8T>C
|
rs2100827755
|
|
|
NM_001918.5(DBT):c.258A>G (p.Val86=)
|
|
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
|
NM_001918.5(DBT):c.261del (p.Glu88fs)
|
rs1570836175
|
|
|
NM_001918.5(DBT):c.264A>G (p.Glu88=)
|
rs1557956728
|
|
|
NM_001918.5(DBT):c.272_275del (p.Thr91fs)
|
rs398123666
|
|
|
NM_001918.5(DBT):c.273A>C (p.Thr91=)
|
rs2100827682
|
|
|
NM_001918.5(DBT):c.273A>G (p.Thr91=)
|
|
|
|
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
|
|
|
|
NM_001918.5(DBT):c.282G>A (p.Gln94=)
|
rs2100827660
|
|
|
NM_001918.5(DBT):c.288T>C (p.Asp96=)
|
|
|
|
NM_001918.5(DBT):c.292A>G (p.Ile98Val)
|
|
|
|
NM_001918.5(DBT):c.296G>A (p.Cys99Tyr)
|
rs1557956678
|
|
|
NM_001918.5(DBT):c.29G>A (p.Trp10Ter)
|
rs572340170
|
|
|
NM_001918.5(DBT):c.300A>G (p.Glu100=)
|
rs772023545
|
|
|
NM_001918.5(DBT):c.304C>T (p.Gln102Ter)
|
rs2100827593
|
|
|
NM_001918.5(DBT):c.311A>G (p.Asp104Gly)
|
rs1553232188
|
|
|
NM_001918.5(DBT):c.311A>T (p.Asp104Val)
|
rs1553232188
|
|
|
NM_001918.5(DBT):c.321T>A (p.Ser107=)
|
|
|
|
NM_001918.5(DBT):c.333T>C (p.Thr111=)
|
|
|
|
NM_001918.5(DBT):c.336T>C (p.Ser112=)
|
rs1254104594
|
|
|
NM_001918.5(DBT):c.342T>C (p.Tyr114=)
|
rs1207748719
|
|
|
NM_001918.5(DBT):c.351C>T (p.Val117=)
|
rs767953425
|
|
|
NM_001918.5(DBT):c.363_364del (p.Tyr122fs)
|
rs753574354
|
|
|
NM_001918.5(DBT):c.364dup (p.Tyr122fs)
|
|
|
|
NM_001918.5(DBT):c.365_366del (p.Tyr122fs)
|
rs2100827350
|
|
|
NM_001918.5(DBT):c.366T>C (p.Tyr122=)
|
|
|
|
NM_001918.5(DBT):c.369T>C (p.Tyr123=)
|
rs2100827345
|
|
|
NM_001918.5(DBT):c.36G>A (p.Arg12=)
|
rs147775797
|
|
|
NM_001918.5(DBT):c.36G>C (p.Arg12Ser)
|
|
|
|
NM_001918.5(DBT):c.384T>C (p.Ile128=)
|
rs918466852
|
|
|
NM_001918.5(DBT):c.398A>T (p.Lys133Met)
|
|
|
|
NM_001918.5(DBT):c.39T>C (p.Asn13=)
|
rs1431500513
|
|
|
NM_001918.5(DBT):c.408A>G (p.Val136=)
|
rs528365976
|
|
|
NM_001918.5(DBT):c.427T>C (p.Leu143=)
|
rs2100827179
|
|
|
NM_001918.5(DBT):c.42G>C (p.Ala14=)
|
|
|
|
NM_001918.5(DBT):c.42G>T (p.Ala14=)
|
rs758610837
|
|
|
NM_001918.5(DBT):c.433+10G>A
|
rs1024314250
|
|
|
NM_001918.5(DBT):c.433+10G>C
|
rs1024314250
|
|
|
NM_001918.5(DBT):c.433+13T>G
|
|
|
|
NM_001918.5(DBT):c.433+17A>C
|
|
|
|
NM_001918.5(DBT):c.433+6G>A
|
|
|
|
NM_001918.5(DBT):c.433+7dup
|
rs2100827150
|
|
|
NM_001918.5(DBT):c.433+8A>G
|
|
|
|
NM_001918.5(DBT):c.434-11C>T
|
|
|
|
NM_001918.5(DBT):c.434-14T>C
|
|
|
|
NM_001918.5(DBT):c.434-17T>G
|
|
|
|
NM_001918.5(DBT):c.434-1G>A
|
rs754004231
|
|
|
NM_001918.5(DBT):c.434-4C>T
|
|
|
|
NM_001918.5(DBT):c.437C>A (p.Ser146Ter)
|
|
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
|
NM_001918.5(DBT):c.449TTG[1] (p.Val151del)
|
rs773087765
|
|
|
NM_001918.5(DBT):c.451G>A (p.Val151Ile)
|
rs1282153768
|
|
|
NM_001918.5(DBT):c.457del (p.Thr153fs)
|
|
|
|
NM_001918.5(DBT):c.45G>T (p.Gly15=)
|
|
|
|
NM_001918.5(DBT):c.465A>C (p.Ala155=)
|
|
|
|
NM_001918.5(DBT):c.474T>C (p.His158=)
|
rs2100804457
|
|
|
NM_001918.5(DBT):c.475G>A (p.Asp159Asn)
|
|
|
|
NM_001918.5(DBT):c.479A>C (p.Glu160Ala)
|
|
|
|
NM_001918.5(DBT):c.480A>G (p.Glu160=)
|
|
|
|
NM_001918.5(DBT):c.483T>C (p.His161=)
|
rs2100804431
|
|
|
NM_001918.5(DBT):c.488_489del (p.His163fs)
|
rs760861011
|
|
|
NM_001918.5(DBT):c.4G>A (p.Ala2Thr)
|
rs760664814
|
|
|
NM_001918.5(DBT):c.501G>A (p.Lys167=)
|
|
|
|
NM_001918.5(DBT):c.501_513del (p.Lys167fs)
|
|
|
|
NM_001918.5(DBT):c.51+11T>C
|
|
|
|
NM_001918.5(DBT):c.51+13_51+14insT
|
|
|
|
NM_001918.5(DBT):c.51+14G>C
|
|
|
|
NM_001918.5(DBT):c.51+18G>C
|
|
|
|
NM_001918.5(DBT):c.51+18G>T
|
|
|
|
NM_001918.5(DBT):c.51+1G>T
|
rs398123669
|
|
|
NM_001918.5(DBT):c.51+7A>G
|
|
|
|
NM_001918.5(DBT):c.510A>G (p.Lys170=)
|
rs1570820389
|
|
|
NM_001918.5(DBT):c.512C>T (p.Thr171Ile)
|
|
|
|
NM_001918.5(DBT):c.514C>T (p.Leu172=)
|
rs1344704881
|
|
|
NM_001918.5(DBT):c.516_522del (p.Ala173fs)
|
rs2100804340
|
|
|
NM_001918.5(DBT):c.52-10T>G
|
|
|
|
NM_001918.5(DBT):c.52-18T>G
|
rs1052822218
|
|
|
NM_001918.5(DBT):c.52-4G>A
|
rs2100844854
|
|
|
NM_001918.5(DBT):c.52-5T>C
|
|
|
|
NM_001918.5(DBT):c.52-6del
|
rs2100844868
|
|
|
NM_001918.5(DBT):c.52-9C>T
|
|
|
|
NM_001918.5(DBT):c.528A>G (p.Ala176=)
|
|
|
|
NM_001918.5(DBT):c.531_537del (p.Arg178fs)
|
rs1372109444
|
|
|
NM_001918.5(DBT):c.533G>A (p.Arg178His)
|
|
|
|
NM_001918.5(DBT):c.537T>C (p.Arg179=)
|
|
|
|
NM_001918.5(DBT):c.538C>G (p.Leu180Val)
|
rs2100804291
|
|
|
NM_001918.5(DBT):c.549A>G (p.Glu183=)
|
rs2100804264
|
|
|
NM_001918.5(DBT):c.54T>C (p.Ile18=)
|
rs1171616529
|
|
|
NM_001918.5(DBT):c.555+8C>A
|
rs548611008
|
|
|
NM_001918.5(DBT):c.555+8C>T
|
|
|
|
NM_001918.5(DBT):c.555dup (p.Ile186fs)
|
|
|
|
NM_001918.5(DBT):c.556-12A>G
|
|
|
|
NM_001918.5(DBT):c.556-14A>G
|
|
|
|
NM_001918.5(DBT):c.556-3dup
|
|
|
|
NM_001918.5(DBT):c.556-5T>C
|
|
|
|
NM_001918.5(DBT):c.576T>C (p.Val192=)
|
|
|
|
NM_001918.5(DBT):c.577G>A (p.Gly193Ser)
|
rs398123671
|
|
|
NM_001918.5(DBT):c.579C>T (p.Gly193=)
|
|
|
|
NM_001918.5(DBT):c.581C>A (p.Ser194Ter)
|
|
|
|
NM_001918.5(DBT):c.595A>G (p.Arg199Gly)
|
rs2100799976
|
|
|
NM_001918.5(DBT):c.630A>G (p.Glu210=)
|
|
|
|
NM_001918.5(DBT):c.634C>T (p.Gln212Ter)
|
rs1553230841
|
|
|
NM_001918.5(DBT):c.639del (p.Gly214fs)
|
|
|
|
NM_001918.5(DBT):c.63C>G (p.Arg21=)
|
|
|
|
NM_001918.5(DBT):c.642A>C (p.Gly214=)
|
|
|
|
NM_001918.5(DBT):c.645T>G (p.Ala215=)
|
|
|
|
NM_001918.5(DBT):c.650dup (p.Leu217fs)
|
|
|
|
NM_001918.5(DBT):c.663C>T (p.Pro221=)
|
rs1662468729
|
|
|
NM_001918.5(DBT):c.666A>G (p.Lys222=)
|
|
|
|
NM_001918.5(DBT):c.667G>A (p.Val223Ile)
|
|
|
|
NM_001918.5(DBT):c.668T>G (p.Val223Gly)
|
rs772801811
|
|
|
NM_001918.5(DBT):c.676A>G (p.Met226Val)
|
|
|
|
NM_001918.5(DBT):c.696A>G (p.Pro232=)
|
rs2100799691
|
|
|
NM_001918.5(DBT):c.6T>A (p.Ala2=)
|
rs1240475402
|
|
|
NM_001918.5(DBT):c.6T>G (p.Ala2=)
|
rs1240475402
|
|
|
NM_001918.5(DBT):c.702C>T (p.Asp234=)
|
|
|
|
NM_001918.5(DBT):c.709G>C (p.Val237Leu)
|
rs947272551
|
|
|
NM_001918.5(DBT):c.714T>C (p.Pro238=)
|
|
|
|
NM_001918.5(DBT):c.715A>C (p.Ile239Leu)
|
|
|
|
NM_001918.5(DBT):c.725C>G (p.Ser242Ter)
|
rs201559874
|
|
|
NM_001918.5(DBT):c.735G>A (p.Pro245=)
|
|
|
|
NM_001918.5(DBT):c.741C>T (p.Phe247=)
|
|
|
|
NM_001918.5(DBT):c.744A>C (p.Thr248=)
|
rs765082016
|
|
|
NM_001918.5(DBT):c.747C>G (p.Gly249=)
|
rs200612682
|
|
|
NM_001918.5(DBT):c.75A>T (p.Thr25=)
|
|
|
|
NM_001918.5(DBT):c.762del (p.Glu254fs)
|
rs2100799447
|
|
|
NM_001918.5(DBT):c.772+11T>C
|
|
|
|
NM_001918.5(DBT):c.772+17C>G
|
|
|
|
NM_001918.5(DBT):c.772+17_772+19del
|
|
|
|
NM_001918.5(DBT):c.772+19A>G
|
|
|
|
NM_001918.5(DBT):c.772+1G>C
|
rs2100799417
|
|
|
NM_001918.5(DBT):c.772+2T>G
|
|
|
|
NM_001918.5(DBT):c.772+7A>G
|
|
|
|
NM_001918.5(DBT):c.772+8T>C
|
|
|
|
NM_001918.5(DBT):c.772+8TAA[2]
|
|
|
|
NM_001918.5(DBT):c.772+9A>G
|
rs2100799392
|
|
|
NM_001918.5(DBT):c.773-14T>G
|
|
|
|
NM_001918.5(DBT):c.773-4T>C
|
|
|
|
NM_001918.5(DBT):c.783del (p.Ala262fs)
|
|
|
|
NM_001918.5(DBT):c.787A>G (p.Met263Val)
|
rs753685282
|
|
|
NM_001918.5(DBT):c.788T>C (p.Met263Thr)
|
rs1553230703
|
|
|
NM_001918.5(DBT):c.792C>G (p.Val264=)
|
rs2100797477
|
|
|
NM_001918.5(DBT):c.799A>T (p.Met267Leu)
|
|
|
|
NM_001918.5(DBT):c.799_800del (p.Met267fs)
|
|
|
|
NM_001918.5(DBT):c.804T>A (p.Ser268=)
|
rs1283378890
|
|
|
NM_001918.5(DBT):c.804T>C (p.Ser268=)
|
rs1283378890
|
|
|
NM_001918.5(DBT):c.813G>A (p.Leu271=)
|
|
|
|
NM_001918.5(DBT):c.828del (p.Phe276fs)
|
|
|
|
NM_001918.5(DBT):c.82_84dup (p.Asn28dup)
|
rs746916491
|
|
|
NM_001918.5(DBT):c.831T>C (p.Gly277=)
|
rs2100797397
|
|
|
NM_001918.5(DBT):c.834T>C (p.Tyr278=)
|
rs2100797369
|
|
|
NM_001918.5(DBT):c.849C>T (p.Asp283=)
|
|
|
|
NM_001918.5(DBT):c.84T>C (p.Asn28=)
|
|
|
|
NM_001918.5(DBT):c.853A>C (p.Thr285Pro)
|
rs1662391542
|
|
|
NM_001918.5(DBT):c.855T>C (p.Thr285=)
|
|
|
|
NM_001918.5(DBT):c.861G>A (p.Leu287=)
|
|
|
|
NM_001918.5(DBT):c.86T>C (p.Val29Ala)
|
rs1473273369
|
|
|
NM_001918.5(DBT):c.870C>T (p.Leu290=)
|
|
|
|
NM_001918.5(DBT):c.872G>A (p.Arg291Gln)
|
|
|
|
NM_001918.5(DBT):c.872G>T (p.Arg291Leu)
|
rs775808731
|
|
|
NM_001918.5(DBT):c.876A>G (p.Glu292=)
|
|
|
|
NM_001918.5(DBT):c.87T>A (p.Val29=)
|
rs2100844766
|
|
|
NM_001918.5(DBT):c.881T>A (p.Leu294Ter)
|
|
|
|
NM_001918.5(DBT):c.883A>C (p.Lys295Gln)
|
rs1158505606
|
|
|
NM_001918.5(DBT):c.891T>C (p.Ile297=)
|
rs1184322880
|
|
|
NM_001918.5(DBT):c.894A>C (p.Ala298=)
|
|
|
|
NM_001918.5(DBT):c.897T>C (p.Phe299=)
|
rs2100797177
|
|
|
NM_001918.5(DBT):c.899C>T (p.Ala300Val)
|
|
|
|
NM_001918.5(DBT):c.903T>C (p.Arg301=)
|
|
|
|
NM_001918.5(DBT):c.910_919del (p.Lys304fs)
|
rs2100797119
|
|
|
NM_001918.5(DBT):c.913C>T (p.Leu305Phe)
|
|
|
|
NM_001918.5(DBT):c.915C>T (p.Leu305=)
|
rs2100797139
|
|
|
NM_001918.5(DBT):c.916T>C (p.Ser306Pro)
|
rs2100797134
|
|
|
NM_001918.5(DBT):c.917C>G (p.Ser306Cys)
|
rs794727856
|
|
|
NM_001918.5(DBT):c.932T>C (p.Phe311Ser)
|
rs1662388035
|
|
|
NM_001918.5(DBT):c.933C>T (p.Phe311=)
|
rs2100797103
|
|
|
NM_001918.5(DBT):c.936A>G (p.Leu312=)
|
|
|
|
NM_001918.5(DBT):c.939+10A>G
|
rs1450707467
|
|
|
NM_001918.5(DBT):c.939+13C>G
|
|
|
|
NM_001918.5(DBT):c.939+7T>C
|
|
|
|
NM_001918.5(DBT):c.940-10T>C
|
rs1306548973
|
|
|
NM_001918.5(DBT):c.940-17C>A
|
|
|
|
NM_001918.5(DBT):c.940-18T>G
|
rs2100788572
|
|
|
NM_001918.5(DBT):c.940-4A>C
|
|
|
|
NM_001918.5(DBT):c.940-5A>C
|
rs1296647053
|
|
|
NM_001918.5(DBT):c.940-7T>C
|
rs2100788531
|
|
|
NM_001918.5(DBT):c.940-7del
|
rs2100788542
|
|
|
NM_001918.5(DBT):c.940-9G>T
|
|
|
|
NM_001918.5(DBT):c.940G>T (p.Ala314Ser)
|
|
|
|
NM_001918.5(DBT):c.945T>C (p.Ala315=)
|
rs2100788485
|
|
|
NM_001918.5(DBT):c.947_950del (p.Ser316fs)
|
|
|
|
NM_001918.5(DBT):c.960A>G (p.Leu320=)
|
rs2100788475
|
|
|
NM_001918.5(DBT):c.961C>T (p.Gln321Ter)
|
rs1662088383
|
|
|
NM_001918.5(DBT):c.961_962del (p.Gln321fs)
|
rs2100788460
|
|
|
NM_001918.5(DBT):c.962A>T (p.Gln321Leu)
|
rs758048048
|
|
|
NM_001918.5(DBT):c.963G>A (p.Gln321=)
|
rs762063921
|
|
|
NM_001918.5(DBT):c.963G>C (p.Gln321His)
|
|
|
|
NM_001918.5(DBT):c.967_975dup (p.Pro323_Leu325dup)
|
rs1557946237
|
|
|
NM_001918.5(DBT):c.979G>A (p.Ala327Thr)
|
|
|
|
NM_001918.5(DBT):c.990T>C (p.Asp330=)
|
rs2100788342
|
|
|
NM_001918.5(DBT):c.991G>A (p.Glu331Lys)
|
rs2100788336
|
|
|
NM_001918.5(DBT):c.995A>G (p.Asn332Ser)
|
|
|
|
NM_001918.5(DBT):c.99G>A (p.Lys33=)
|
rs2100844736
|
|
|
NM_001918.5(DBT):c.9A>T (p.Ala3=)
|
rs772869478
|
|
|
NM_001958.5(EEF1A2):c.1001C>T (p.Pro334Leu)
|
rs574384755
|
|
|
NM_001958.5(EEF1A2):c.1002G>A (p.Pro334=)
|
rs759770756
|
|
|
NM_001958.5(EEF1A2):c.1020C>T (p.Phe340=)
|
rs2145939960
|
|
|
NM_001958.5(EEF1A2):c.1023C>T (p.Thr341=)
|
|
|
|
NM_001958.5(EEF1A2):c.1029+11_1029+12delinsAT
|
rs2145939944
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>A
|
rs111392970
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>C
|
rs111392970
|
|
|
NM_001958.5(EEF1A2):c.1029+3G>T
|
rs111392970
|
|
|
NM_001958.5(EEF1A2):c.1030-10C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1030-11T>G
|
|
|
|
NM_001958.5(EEF1A2):c.1030-20G>A
|
|
|
|
NM_001958.5(EEF1A2):c.1050G>A (p.Pro350=)
|
rs1222452639
|
|
|
NM_001958.5(EEF1A2):c.1059T>C (p.Ile353=)
|
|
|
|
NM_001958.5(EEF1A2):c.1068C>T (p.Gly356=)
|
|
|
|
NM_001958.5(EEF1A2):c.1077G>A (p.Pro359=)
|
|
|
|
NM_001958.5(EEF1A2):c.1077G>C (p.Pro359=)
|
|
|
|
NM_001958.5(EEF1A2):c.1119G>A (p.Ala373=)
|
|
|
|
NM_001958.5(EEF1A2):c.1129_1131del (p.Glu377del)
|
rs2082366421
|
|
|
NM_001958.5(EEF1A2):c.1137T>A (p.Ile379=)
|
rs1204115008
|
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
|
NM_001958.5(EEF1A2):c.114C>G (p.Thr38=)
|
|
|
|
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg)
|
rs1555883384
|
|
|
NM_001958.5(EEF1A2):c.1159C>T (p.Leu387=)
|
rs2145938785
|
|
|
NM_001958.5(EEF1A2):c.115A>T (p.Ile39Phe)
|
|
|
|
NM_001958.5(EEF1A2):c.1161G>A (p.Leu387=)
|
|
|
|
NM_001958.5(EEF1A2):c.1164G>A (p.Glu388=)
|
|
|
|
NM_001958.5(EEF1A2):c.1165G>A (p.Asp389Asn)
|
rs1568994517
|
|
|
NM_001958.5(EEF1A2):c.1169A>G (p.Asn390Ser)
|
rs2145938775
|
|
|
NM_001958.5(EEF1A2):c.1180C>G (p.Leu394Val)
|
|
|
|
NM_001958.5(EEF1A2):c.1182G>A (p.Leu394=)
|
rs199643016
|
|
|
NM_001958.5(EEF1A2):c.1190G>A (p.Gly397Glu)
|
rs2145938753
|
|
|
NM_001958.5(EEF1A2):c.1196C>A (p.Ala399Glu)
|
rs2082366097
|
|
|
NM_001958.5(EEF1A2):c.1197G>A (p.Ala399=)
|
rs1243124575
|
|
|
NM_001958.5(EEF1A2):c.1200C>T (p.Ala400=)
|
|
|
|
NM_001958.5(EEF1A2):c.1203C>A (p.Ile401=)
|
rs758653621
|
|
|
NM_001958.5(EEF1A2):c.1215G>C (p.Val405=)
|
rs1600902095
|
|
|
NM_001958.5(EEF1A2):c.1263C>A (p.Leu421=)
|
|
|
|
NM_001958.5(EEF1A2):c.1264+13G>C
|
rs2145938697
|
|
|
NM_001958.5(EEF1A2):c.1264+17C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1264+17C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1264+17del
|
|
|
|
NM_001958.5(EEF1A2):c.1264+6C>T
|
rs2082365851
|
|
|
NM_001958.5(EEF1A2):c.1264+7C>A
|
rs1043290712
|
|
|
NM_001958.5(EEF1A2):c.1264+7C>G
|
rs1043290712
|
|
|
NM_001958.5(EEF1A2):c.1265-10C>G
|
|
|
|
NM_001958.5(EEF1A2):c.1265-10del
|
rs1170731512
|
|
|
NM_001958.5(EEF1A2):c.1265-11C>T
|
rs762339090
|
|
|
NM_001958.5(EEF1A2):c.1265-12C>A
|
|
|
|
NM_001958.5(EEF1A2):c.1265-15C>A
|
rs200634874
|
|
|
NM_001958.5(EEF1A2):c.1265-15dup
|
rs1170731512
|
|
|
NM_001958.5(EEF1A2):c.1265-16GCCCCCC[3]
|
rs760400114
|
|
|
NM_001958.5(EEF1A2):c.1265-23_1265-6dup
|
|
|
|
NM_001958.5(EEF1A2):c.1265-3del
|
|
|
|
NM_001958.5(EEF1A2):c.1265-6C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1265-7C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1265-8C>G
|
rs1430868348
|
|
|
NM_001958.5(EEF1A2):c.1265-8C>T
|
|
|
|
NM_001958.5(EEF1A2):c.1267C>T (p.Arg423Cys)
|
rs886039346
|
|
|
NM_001958.5(EEF1A2):c.1268_1269delinsAA (p.Arg423Gln)
|
|
|
|
NM_001958.5(EEF1A2):c.1272C>T (p.Phe424=)
|
|
|
|
NM_001958.5(EEF1A2):c.1275C>A (p.Ala425=)
|
rs1290491559
|
|
|
NM_001958.5(EEF1A2):c.1275C>T (p.Ala425=)
|
|
|
|
NM_001958.5(EEF1A2):c.1285A>G (p.Met429Val)
|
|
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
|
NM_001958.5(EEF1A2):c.1296G>C (p.Thr432=)
|
rs200259257
|
|
|
NM_001958.5(EEF1A2):c.1296G>T (p.Thr432=)
|
rs200259257
|
|
|
NM_001958.5(EEF1A2):c.1302C>T (p.Ala434=)
|
rs1057522311
|
|
|
NM_001958.5(EEF1A2):c.1304T>C (p.Val435Ala)
|
rs2145938177
|
|
|
NM_001958.5(EEF1A2):c.1309G>A (p.Val437Ile)
|
rs1057521655
|
|
|
NM_001958.5(EEF1A2):c.1311C>G (p.Val437=)
|
|
|
|
NM_001958.5(EEF1A2):c.1311C>T (p.Val437=)
|
rs2145938170
|
|
|
NM_001958.5(EEF1A2):c.1316A>G (p.Lys439Arg)
|
rs1286655873
|
|
|
NM_001958.5(EEF1A2):c.1320C>T (p.Asn440=)
|
rs367803280
|
|
|
NM_001958.5(EEF1A2):c.1328A>G (p.Lys443Arg)
|
|
|
|
NM_001958.5(EEF1A2):c.1332G>A (p.Lys444=)
|
|
|
|
NM_001958.5(EEF1A2):c.1335C>A (p.Ser445Arg)
|
rs372257864
|
|
|
NM_001958.5(EEF1A2):c.1344C>G (p.Ala448=)
|
|
|
|
NM_001958.5(EEF1A2):c.1344C>T (p.Ala448=)
|
|
|
|
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser)
|
rs2082362096
|
|
|
NM_001958.5(EEF1A2):c.1351G>A (p.Val451Ile)
|
|
|
|
NM_001958.5(EEF1A2):c.1356C>A (p.Thr452=)
|
|
|
|
NM_001958.5(EEF1A2):c.1356C>G (p.Thr452=)
|
|
|
|
NM_001958.5(EEF1A2):c.1365G>A (p.Ala455=)
|
rs1600901507
|
|
|
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1])
|
rs879255373
|
|
|
NM_001958.5(EEF1A2):c.1369A>G (p.Lys457Glu)
|
|
|
|
NM_001958.5(EEF1A2):c.1374G>A (p.Ala458=)
|
rs2145938105
|
|
|
NM_001958.5(EEF1A2):c.137C>T (p.Ala46Val)
|
rs1555883973
|
|
|
NM_001958.5(EEF1A2):c.1383G>A (p.Ala461=)
|
rs781155823
|
|
|
NM_001958.5(EEF1A2):c.144+12A>G
|
|
|
|
NM_001958.5(EEF1A2):c.144+6C>T
|
rs1179785181
|
|
|
NM_001958.5(EEF1A2):c.144+8C>A
|
rs2145946769
|
|
|
NM_001958.5(EEF1A2):c.145-18G>C
|
|
|
|
NM_001958.5(EEF1A2):c.145-19_145-7dup
|
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|
|
NM_001958.5(EEF1A2):c.145-20G>A
|
rs756963600
|
|
|
NM_001958.5(EEF1A2):c.145-20G>T
|
rs756963600
|
|
|
NM_001958.5(EEF1A2):c.145-3C>T
|
|
|
|
NM_001958.5(EEF1A2):c.145-7G>A
|
rs536472004
|
|
|
NM_001958.5(EEF1A2):c.145-7_145-6del
|
rs781781112
|
|
|
NM_001958.5(EEF1A2):c.145-8C>G
|
rs554786640
|
|
|
NM_001958.5(EEF1A2):c.150G>C (p.Gly50=)
|
rs751627255
|
|
|
NM_001958.5(EEF1A2):c.150G>T (p.Gly50=)
|
rs751627255
|
|
|
NM_001958.5(EEF1A2):c.169G>A (p.Ala57Thr)
|
|
|
|
NM_001958.5(EEF1A2):c.180G>T (p.Leu60=)
|
rs760484799
|
|
|
NM_001958.5(EEF1A2):c.194C>T (p.Ala65Val)
|
rs1238718880
|
|
|
NM_001958.5(EEF1A2):c.195G>A (p.Ala65=)
|
|
|
|
NM_001958.5(EEF1A2):c.205C>T (p.Arg69Cys)
|
rs1555883869
|
|
|
NM_001958.5(EEF1A2):c.206G>A (p.Arg69His)
|
|
|
|
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)
|
rs587777162
|
|
|
NM_001958.5(EEF1A2):c.214A>G (p.Thr72Ala)
|
|
|
|
NM_001958.5(EEF1A2):c.222C>T (p.Asp74=)
|
|
|
|
NM_001958.5(EEF1A2):c.228C>A (p.Ser76=)
|
rs770506057
|
|
|
NM_001958.5(EEF1A2):c.231C>G (p.Leu77=)
|
rs1600908507
|
|
|
NM_001958.5(EEF1A2):c.237G>T (p.Lys79Asn)
|
|
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
|
NM_001958.5(EEF1A2):c.271G>T (p.Asp91Tyr)
|
|
|
|
NM_001958.5(EEF1A2):c.273T>C (p.Asp91=)
|
rs1555883864
|
|
|
NM_001958.5(EEF1A2):c.274G>A (p.Ala92Thr)
|
rs2082414178
|
|
|
NM_001958.5(EEF1A2):c.288C>A (p.Arg96=)
|
|
|
|
NM_001958.5(EEF1A2):c.289G>A (p.Asp97Asn)
|
rs2145945425
|
|
|
NM_001958.5(EEF1A2):c.28A>T (p.Ile10Phe)
|
rs2145946874
|
|
|
NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr)
|
rs2082414008
|
|
|
NM_001958.5(EEF1A2):c.324+2T>G
|
|
|
|
NM_001958.5(EEF1A2):c.324+5G>A
|
rs762973465
|
|
|
NM_001958.5(EEF1A2):c.324+5dup
|
rs1555883860
|
|
|
NM_001958.5(EEF1A2):c.324+8G>A
|
|
|
|
NM_001958.5(EEF1A2):c.324+9G>A
|
rs2145945388
|
|
|
NM_001958.5(EEF1A2):c.325-14C>A
|
|
|
|
NM_001958.5(EEF1A2):c.325-14C>T
|
rs2082410940
|
|
|
NM_001958.5(EEF1A2):c.325-20C>A
|
|
|
|
NM_001958.5(EEF1A2):c.325-6G>A
|
|
|
|
NM_001958.5(EEF1A2):c.326C>T (p.Ala109Val)
|
|
|
|
NM_001958.5(EEF1A2):c.327G>A (p.Ala109=)
|
|
|
|
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)
|
rs2145944981
|
|
|
NM_001958.5(EEF1A2):c.333C>T (p.Cys111=)
|
|
|
|
NM_001958.5(EEF1A2):c.334G>A (p.Ala112Thr)
|
rs2145944978
|
|
|
NM_001958.5(EEF1A2):c.344T>C (p.Ile115Thr)
|
|
|
|
NM_001958.5(EEF1A2):c.346G>A (p.Val116Met)
|
|
|
|
NM_001958.5(EEF1A2):c.346G>T (p.Val116Leu)
|
|
|
|
NM_001958.5(EEF1A2):c.353C>T (p.Ala118Val)
|
|
|
|
NM_001958.5(EEF1A2):c.356G>A (p.Gly119Asp)
|
rs2145944958
|
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
|
NM_001958.5(EEF1A2):c.369C>A (p.Phe123Leu)
|
|
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
|
NM_001958.5(EEF1A2):c.384C>T (p.Ser128=)
|
|
|
|
NM_001958.5(EEF1A2):c.390T>C (p.Asn130=)
|
rs764383059
|
|
|
NM_001958.5(EEF1A2):c.391G>A (p.Gly131Arg)
|
|
|
|
NM_001958.5(EEF1A2):c.398C>T (p.Thr133Met)
|
rs1555883816
|
|
|
NM_001958.5(EEF1A2):c.400C>T (p.Arg134Trp)
|
rs1448765509
|
|
|
NM_001958.5(EEF1A2):c.401G>A (p.Arg134Gln)
|
|
|
|
NM_001958.5(EEF1A2):c.403G>C (p.Glu135Gln)
|
rs2145944903
|
|
|
NM_001958.5(EEF1A2):c.40G>A (p.Gly14Ser)
|
rs750037735
|
|
|
NM_001958.5(EEF1A2):c.426G>T (p.Thr142=)
|
|
|
|
NM_001958.5(EEF1A2):c.444C>T (p.Leu148=)
|
|
|
|
NM_001958.5(EEF1A2):c.447C>A (p.Ile149=)
|
|
|
|
NM_001958.5(EEF1A2):c.448G>A (p.Val150Met)
|
|
|
|
NM_001958.5(EEF1A2):c.452G>A (p.Gly151Asp)
|
rs2082410204
|
|
|
NM_001958.5(EEF1A2):c.453C>T (p.Gly151=)
|
rs764827474
|
|
|
NM_001958.5(EEF1A2):c.468C>T (p.Asp156=)
|
|
|
|
NM_001958.5(EEF1A2):c.471C>G (p.Ser157=)
|
rs1600907789
|
|
|
NM_001958.5(EEF1A2):c.475G>T (p.Glu159Ter)
|
|
|
|
NM_001958.5(EEF1A2):c.480_481delinsAA (p.Ala161Thr)
|
rs1600907762
|
|
|
NM_001958.5(EEF1A2):c.487A>G (p.Ser163Gly)
|
rs1000703611
|
|
|
NM_001958.5(EEF1A2):c.489C>G (p.Ser163Arg)
|
|
|
|
NM_001958.5(EEF1A2):c.490G>A (p.Glu164Lys)
|
rs2145944822
|
|
|
NM_001958.5(EEF1A2):c.496C>T (p.Arg166Cys)
|
|
|
|
NM_001958.5(EEF1A2):c.497G>A (p.Arg166His)
|
|
|
|
NM_001958.5(EEF1A2):c.49G>C (p.Asp17His)
|
rs2082424804
|
|
|
NM_001958.5(EEF1A2):c.505G>A (p.Glu169Lys)
|
rs2082409766
|
|
|
NM_001958.5(EEF1A2):c.506A>G (p.Glu169Gly)
|
rs2082409745
|
|
|
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly)
|
rs2145946848
|
|
|
NM_001958.5(EEF1A2):c.511G>A (p.Val171Ile)
|
|
|
|
NM_001958.5(EEF1A2):c.513C>T (p.Val171=)
|
rs201149992
|
|
|
NM_001958.5(EEF1A2):c.515A>G (p.Lys172Arg)
|
|
|
|
NM_001958.5(EEF1A2):c.522C>T (p.Val174=)
|
|
|
|
NM_001958.5(EEF1A2):c.524_525delinsAG (p.Ser175Lys)
|
|
|
|
NM_001958.5(EEF1A2):c.525C>T (p.Ser175=)
|
|
|
|
NM_001958.5(EEF1A2):c.532A>G (p.Ile178Val)
|
|
|
|
NM_001958.5(EEF1A2):c.536A>G (p.Lys179Arg)
|
rs2082409506
|
|
|
NM_001958.5(EEF1A2):c.543C>G (p.Ile181Met)
|
rs1057115359
|
|
|
NM_001958.5(EEF1A2):c.549C>T (p.Tyr183=)
|
rs2145944762
|
|
|
NM_001958.5(EEF1A2):c.54C>G (p.Ser18=)
|
rs200759764
|
|
|
NM_001958.5(EEF1A2):c.54C>T (p.Ser18=)
|
rs200759764
|
|
|
NM_001958.5(EEF1A2):c.555G>A (p.Pro185=)
|
|
|
|
NM_001958.5(EEF1A2):c.562G>A (p.Val188Met)
|
|
|
|
NM_001958.5(EEF1A2):c.571G>A (p.Val191Met)
|
rs1600907642
|
|
|
NM_001958.5(EEF1A2):c.577A>G (p.Ile193Val)
|
|
|
|
NM_001958.5(EEF1A2):c.583G>A (p.Gly195Ser)
|
|
|
|
NM_001958.5(EEF1A2):c.620A>G (p.Asn207Ser)
|
rs1184871645
|
|
|
NM_001958.5(EEF1A2):c.621+10G>T
|
|
|
|
NM_001958.5(EEF1A2):c.621+14_621+18dup
|
|
|
|
NM_001958.5(EEF1A2):c.621+16G>A
|
|
|
|
NM_001958.5(EEF1A2):c.621+7G>T
|
rs1376340355
|
|
|
NM_001958.5(EEF1A2):c.622-17T>G
|
|
|
|
NM_001958.5(EEF1A2):c.622-3C>T
|
|
|
|
NM_001958.5(EEF1A2):c.627G>A (p.Pro209=)
|
|
|
|
NM_001958.5(EEF1A2):c.62C>T (p.Ser21Phe)
|
|
|
|
NM_001958.5(EEF1A2):c.639C>T (p.Gly213=)
|
|
|
|
NM_001958.5(EEF1A2):c.676G>A (p.Val226Met)
|
|
|
|
NM_001958.5(EEF1A2):c.682C>T (p.Leu228=)
|
rs1555883739
|
|
|
NM_001958.5(EEF1A2):c.685C>T (p.Leu229=)
|
|
|
|
NM_001958.5(EEF1A2):c.687G>C (p.Leu229=)
|
|
|
|
NM_001958.5(EEF1A2):c.6C>G (p.Gly2=)
|
|
|
|
NM_001958.5(EEF1A2):c.706C>T (p.Leu236=)
|
|
|
|
NM_001958.5(EEF1A2):c.711C>T (p.Pro237=)
|
|
|
|
NM_001958.5(EEF1A2):c.712C>A (p.Pro238Thr)
|
rs2145943601
|
|
|
NM_001958.5(EEF1A2):c.714C>A (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.714C>G (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.714C>T (p.Pro238=)
|
rs557317848
|
|
|
NM_001958.5(EEF1A2):c.716C>G (p.Thr239Arg)
|
rs993963334
|
|
|
NM_001958.5(EEF1A2):c.718C>T (p.Arg240Cys)
|
|
|
|
NM_001958.5(EEF1A2):c.719G>A (p.Arg240His)
|
rs2082399018
|
|
|
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met)
|
rs1064795618
|
|
|
NM_001958.5(EEF1A2):c.727G>A (p.Asp243Asn)
|
|
|
|
NM_001958.5(EEF1A2):c.729C>T (p.Asp243=)
|
|
|
|
NM_001958.5(EEF1A2):c.735C>G (p.Pro245=)
|
rs2082398925
|
|
|
NM_001958.5(EEF1A2):c.737T>C (p.Leu246Pro)
|
|
|
|
NM_001958.5(EEF1A2):c.756C>T (p.Asp252=)
|
|
|
|
NM_001958.5(EEF1A2):c.757G>A (p.Val253Met)
|
|
|
|
NM_001958.5(EEF1A2):c.759G>A (p.Val253=)
|
|
|
|
NM_001958.5(EEF1A2):c.764A>G (p.Lys255Arg)
|
rs2082398761
|
|
|
NM_001958.5(EEF1A2):c.772+10G>A
|
rs2145943548
|
|
|
NM_001958.5(EEF1A2):c.772+11G>A
|
|
|
|
NM_001958.5(EEF1A2):c.772+14C>T
|
|
|
|
NM_001958.5(EEF1A2):c.772+16G>A
|
|
|
|
NM_001958.5(EEF1A2):c.772+19C>T
|
|
|
|
NM_001958.5(EEF1A2):c.772+5G>A
|
|
|
|
NM_001958.5(EEF1A2):c.772+7A>G
|
|
|
|
NM_001958.5(EEF1A2):c.772G>A (p.Gly258Ser)
|
rs2082398711
|
|
|
NM_001958.5(EEF1A2):c.773-12del
|
|
|
|
NM_001958.5(EEF1A2):c.779G>T (p.Gly260Val)
|
rs2082375053
|
|
|
NM_001958.5(EEF1A2):c.782C>T (p.Thr261Met)
|
rs1555883506
|
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
|
NM_001958.5(EEF1A2):c.810C>T (p.Gly270=)
|
|
|
|
NM_001958.5(EEF1A2):c.819G>A (p.Arg273=)
|
|
|
|
NM_001958.5(EEF1A2):c.822G>A (p.Pro274=)
|
|
|
|
NM_001958.5(EEF1A2):c.824G>C (p.Gly275Ala)
|
|
|
|
NM_001958.5(EEF1A2):c.827T>C (p.Met276Thr)
|
rs2145940159
|
|
|
NM_001958.5(EEF1A2):c.832G>C (p.Val278Leu)
|
|
|
|
NM_001958.5(EEF1A2):c.858C>T (p.Thr286=)
|
rs1238751886
|
|
|
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly)
|
rs1555883501
|
|
|
NM_001958.5(EEF1A2):c.870G>A (p.Lys290=)
|
|
|
|
NM_001958.5(EEF1A2):c.873A>C (p.Ser291=)
|
|
|
|
NM_001958.5(EEF1A2):c.87C>T (p.Tyr29=)
|
|
|
|
NM_001958.5(EEF1A2):c.889G>A (p.Glu297Lys)
|
rs1395381555
|
|
|
NM_001958.5(EEF1A2):c.909G>A (p.Leu303=)
|
|
|
|
NM_001958.5(EEF1A2):c.925G>A (p.Gly309Ser)
|
rs921196267
|
|
|
NM_001958.5(EEF1A2):c.930C>T (p.Phe310=)
|
rs2145940056
|
|
|
NM_001958.5(EEF1A2):c.933T>C (p.Asn311=)
|
rs2145940054
|
|
|
NM_001958.5(EEF1A2):c.947C>T (p.Ser316Leu)
|
rs2082374152
|
|
|
NM_001958.5(EEF1A2):c.94G>A (p.Gly32Arg)
|
|
|
|
NM_001958.5(EEF1A2):c.957C>T (p.Asp319=)
|
rs1054278909
|
|
|
NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)
|
|
|
|
NM_001958.5(EEF1A2):c.961C>T (p.Arg321Trp)
|
rs1415254392
|
|
|
NM_001958.5(EEF1A2):c.966G>C (p.Arg322=)
|
|
|
|
NM_001958.5(EEF1A2):c.971A>G (p.Asn324Ser)
|
rs1600903430
|
|
|
NM_001958.5(EEF1A2):c.972C>T (p.Asn324=)
|
|
|
|
NM_001958.5(EEF1A2):c.984C>T (p.Asp328=)
|
rs2145940003
|
|
|
NM_001958.5(EEF1A2):c.998C>G (p.Pro333Arg)
|
|
|
|
NM_001985.3(ETFB):c.111C>T (p.Ser37=)
|
|
|
|
NM_001985.3(ETFB):c.117C>T (p.Asn39=)
|
rs2123591099
|
|
|
NM_001985.3(ETFB):c.122T>C (p.Phe41Ser)
|
rs746082442
|
|
|
NM_001985.3(ETFB):c.123C>T (p.Phe41=)
|
|
|
|
NM_001985.3(ETFB):c.12G>A (p.Leu4=)
|
|
|
|
NM_001985.3(ETFB):c.12G>C (p.Leu4=)
|
|
|
|
NM_001985.3(ETFB):c.132C>T (p.Ile44=)
|
rs374935848
|
|
|
NM_001985.3(ETFB):c.135G>C (p.Ala45=)
|
|
|
|
NM_001985.3(ETFB):c.138G>C (p.Val46=)
|
rs537142189
|
|
|
NM_001985.3(ETFB):c.14G>T (p.Arg5Leu)
|
|
|
|
NM_001985.3(ETFB):c.151C>G (p.Arg51Gly)
|
|
|
|
NM_001985.3(ETFB):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_001985.3(ETFB):c.156C>G (p.Leu52=)
|
|
|
|
NM_001985.3(ETFB):c.15C>T (p.Arg5=)
|
|
|
|
NM_001985.3(ETFB):c.166A>C (p.Lys56Gln)
|
|
|
|
NM_001985.3(ETFB):c.174G>A (p.Val58=)
|
|
|
|
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
|
|
|
|
NM_001985.3(ETFB):c.180G>A (p.Glu60=)
|
|
|
|
NM_001985.3(ETFB):c.186C>G (p.Ile62Met)
|
|
|
|
NM_001985.3(ETFB):c.186C>T (p.Ile62=)
|
|
|
|
NM_001985.3(ETFB):c.190G>A (p.Val64Ile)
|
|
|
|
NM_001985.3(ETFB):c.201G>A (p.Gly67=)
|
|
|
|
NM_001985.3(ETFB):c.216+10G>A
|
|
|
|
NM_001985.3(ETFB):c.216+12C>T
|
|
|
|
NM_001985.3(ETFB):c.216+18del
|
|
|
|
NM_001985.3(ETFB):c.216+1G>C
|
|
|
|
NM_001985.3(ETFB):c.216+20G>C
|
|
|
|
NM_001985.3(ETFB):c.217-14T>G
|
|
|
|
NM_001985.3(ETFB):c.217-15C>T
|
|
|
|
NM_001985.3(ETFB):c.222G>A (p.Thr74=)
|
|
|
|
NM_001985.3(ETFB):c.225T>A (p.Ile75=)
|
|
|
|
NM_001985.3(ETFB):c.22G>A (p.Val8Ile)
|
rs531136177
|
|
|
NM_001985.3(ETFB):c.22G>C (p.Val8Leu)
|
|
|
|
NM_001985.3(ETFB):c.231C>T (p.Thr77=)
|
|
|
|
NM_001985.3(ETFB):c.247G>A (p.Ala83Thr)
|
rs1352787179
|
|
|
NM_001985.3(ETFB):c.252C>T (p.Asp84=)
|
rs1599842126
|
|
|
NM_001985.3(ETFB):c.253C>A (p.Arg85=)
|
rs187424345
|
|
|
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter)
|
rs187424345
|
|
|
NM_001985.3(ETFB):c.254G>A (p.Arg85Gln)
|
|
|
|
NM_001985.3(ETFB):c.257G>T (p.Gly86Val)
|
|
|
|
NM_001985.3(ETFB):c.259A>G (p.Ile87Val)
|
rs2123587270
|
|
|
NM_001985.3(ETFB):c.267G>A (p.Val89=)
|
rs984710058
|
|
|
NM_001985.3(ETFB):c.267G>T (p.Val89=)
|
|
|
|
NM_001985.3(ETFB):c.273G>A (p.Val91=)
|
|
|
|
NM_001985.3(ETFB):c.282A>G (p.Ala94=)
|
|
|
|
NM_001985.3(ETFB):c.285A>G (p.Glu95=)
|
|
|
|
NM_001985.3(ETFB):c.297G>A (p.Leu99=)
|
|
|
|
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001985.3(ETFB):c.306G>A (p.Leu102=)
|
|
|
|
NM_001985.3(ETFB):c.30C>G (p.Val10=)
|
|
|
|
NM_001985.3(ETFB):c.315T>A (p.Ala105=)
|
|
|
|
NM_001985.3(ETFB):c.324G>A (p.Leu108=)
|
|
|
|
NM_001985.3(ETFB):c.326C>A (p.Ala109Asp)
|
|
|
|
NM_001985.3(ETFB):c.327C>A (p.Ala109=)
|
|
|
|
NM_001985.3(ETFB):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_001985.3(ETFB):c.33G>A (p.Lys11=)
|
|
|
|
NM_001985.3(ETFB):c.341_375+154del
|
|
|
|
NM_001985.3(ETFB):c.343_345del (p.Glu115del)
|
|
|
|
NM_001985.3(ETFB):c.351G>A (p.Val117=)
|
|
|
|
NM_001985.3(ETFB):c.353A>G (p.Asp118Gly)
|
|
|
|
NM_001985.3(ETFB):c.355C>T (p.Leu119=)
|
|
|
|
NM_001985.3(ETFB):c.358G>T (p.Val120Leu)
|
|
|
|
NM_001985.3(ETFB):c.362del (p.Leu121fs)
|
|
|
|
NM_001985.3(ETFB):c.375+14G>A
|
rs757521352
|
|
|
NM_001985.3(ETFB):c.375+16C>T
|
|
|
|
NM_001985.3(ETFB):c.375+19C>T
|
|
|
|
NM_001985.3(ETFB):c.375+1G>A
|
|
|
|
NM_001985.3(ETFB):c.375+1G>T
|
|
|
|
NM_001985.3(ETFB):c.375+6T>G
|
|
|
|
NM_001985.3(ETFB):c.375+7G>C
|
|
|
|
NM_001985.3(ETFB):c.375G>C (p.Gln125His)
|
|
|
|
NM_001985.3(ETFB):c.376-12C>T
|
|
|
|
NM_001985.3(ETFB):c.376-7C>T
|
|
|
|
NM_001985.3(ETFB):c.381C>T (p.Ile127=)
|
|
|
|
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
|
|
|
|
NM_001985.3(ETFB):c.395A>C (p.Asn132Thr)
|
|
|
|
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_001985.3(ETFB):c.411G>A (p.Met137Ile)
|
|
|
|
NM_001985.3(ETFB):c.414A>G (p.Thr138=)
|
rs1178011139
|
|
|
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer)
|
rs2123580195
|
|
|
NM_001985.3(ETFB):c.438+12G>T
|
|
|
|
NM_001985.3(ETFB):c.438+13T>G
|
|
|
|
NM_001985.3(ETFB):c.438+4A>G
|
|
|
|
NM_001985.3(ETFB):c.438+5G>A
|
|
|
|
NM_001985.3(ETFB):c.438+7C>T
|
|
|
|
NM_001985.3(ETFB):c.439-18T>C
|
|
|
|
NM_001985.3(ETFB):c.439-1G>A
|
|
|
|
NM_001985.3(ETFB):c.439-20_439-18del
|
|
|
|
NM_001985.3(ETFB):c.439-4C>T
|
rs2035246995
|
|
|
NM_001985.3(ETFB):c.450C>A (p.Ala150=)
|
|
|
|
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
|
|
|
|
NM_001985.3(ETFB):c.456G>A (p.Gln152=)
|
|
|
|
NM_001985.3(ETFB):c.462G>A (p.Thr154=)
|
|
|
|
NM_001985.3(ETFB):c.480G>A (p.Leu160=)
|
rs2123572721
|
|
|
NM_001985.3(ETFB):c.48C>T (p.Tyr16=)
|
rs1201149156
|
|
|
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)
|
rs104894677
|
|
|
NM_001985.3(ETFB):c.492G>A (p.Arg164=)
|
|
|
|
NM_001985.3(ETFB):c.498C>G (p.Ile166Met)
|
|
|
|
NM_001985.3(ETFB):c.498C>T (p.Ile166=)
|
rs150636733
|
|
|
NM_001985.3(ETFB):c.499G>A (p.Asp167Asn)
|
|
|
|
NM_001985.3(ETFB):c.499G>C (p.Asp167His)
|
rs140614695
|
|
|
NM_001985.3(ETFB):c.49G>T (p.Ala17Ser)
|
|
|
|
NM_001985.3(ETFB):c.504G>C (p.Gly168=)
|
|
|
|
NM_001985.3(ETFB):c.519G>C (p.Leu173=)
|
rs933129897
|
|
|
NM_001985.3(ETFB):c.520C>G (p.Arg174Gly)
|
rs755539437
|
|
|
NM_001985.3(ETFB):c.520C>T (p.Arg174Cys)
|
|
|
|
NM_001985.3(ETFB):c.52G>T (p.Val18Leu)
|
|
|
|
NM_001985.3(ETFB):c.531G>A (p.Leu177=)
|
|
|
|
NM_001985.3(ETFB):c.53T>G (p.Val18Gly)
|
|
|
|
NM_001985.3(ETFB):c.553C>T (p.Leu185=)
|
|
|
|
NM_001985.3(ETFB):c.564C>T (p.Asn188=)
|
|
|
|
NM_001985.3(ETFB):c.57+10C>A
|
|
|
|
NM_001985.3(ETFB):c.57+10C>T
|
|
|
|
NM_001985.3(ETFB):c.57+11C>A
|
|
|
|
NM_001985.3(ETFB):c.57+14C>G
|
|
|
|
NM_001985.3(ETFB):c.57+16T>C
|
|
|
|
NM_001985.3(ETFB):c.57+9G>A
|
|
|
|
NM_001985.3(ETFB):c.58-10T>C
|
|
|
|
NM_001985.3(ETFB):c.58-10T>G
|
|
|
|
NM_001985.3(ETFB):c.58-12C>T
|
|
|
|
NM_001985.3(ETFB):c.58-15C>T
|
|
|
|
NM_001985.3(ETFB):c.58-20C>T
|
|
|
|
NM_001985.3(ETFB):c.58-8_58-6del
|
|
|
|
NM_001985.3(ETFB):c.588C>G (p.Pro196=)
|
|
|
|
NM_001985.3(ETFB):c.589A>G (p.Asn197Asp)
|
rs747411704
|
|
|
NM_001985.3(ETFB):c.597+12_597+25del
|
rs756531454
|
|
|
NM_001985.3(ETFB):c.597+13C>G
|
|
|
|
NM_001985.3(ETFB):c.597+17C>A
|
rs372586153
|
|
|
NM_001985.3(ETFB):c.597+17C>G
|
|
|
|
NM_001985.3(ETFB):c.597+17C>T
|
|
|
|
NM_001985.3(ETFB):c.597+18G>A
|
|
|
|
NM_001985.3(ETFB):c.597+19G>A
|
|
|
|
NM_001985.3(ETFB):c.597+9C>G
|
rs1985800060
|
|
|
NM_001985.3(ETFB):c.597+9C>T
|
|
|
|
NM_001985.3(ETFB):c.598-10C>T
|
|
|
|
NM_001985.3(ETFB):c.598-15G>A
|
|
|
|
NM_001985.3(ETFB):c.598-15G>C
|
|
|
|
NM_001985.3(ETFB):c.598-18A>G
|
|
|
|
NM_001985.3(ETFB):c.598-3C>T
|
|
|
|
NM_001985.3(ETFB):c.598-6G>A
|
|
|
|
NM_001985.3(ETFB):c.598-7T>C
|
|
|
|
NM_001985.3(ETFB):c.598-8A>T
|
|
|
|
NM_001985.3(ETFB):c.598-9C>T
|
|
|
|
NM_001985.3(ETFB):c.605AGA[3] (p.Lys205del)
|
rs767519060
|
|
|
NM_001985.3(ETFB):c.611A>G (p.Lys204Arg)
|
|
|
|
NM_001985.3(ETFB):c.61C>A (p.Arg21=)
|
|
|
|
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
|
|
|
|
NM_001985.3(ETFB):c.61del (p.Arg21fs)
|
|
|
|
NM_001985.3(ETFB):c.622G>A (p.Val208Met)
|
|
|
|
NM_001985.3(ETFB):c.62G>A (p.Arg21Gln)
|
rs369216610
|
|
|
NM_001985.3(ETFB):c.631C>T (p.Pro211Ser)
|
|
|
|
NM_001985.3(ETFB):c.632C>A (p.Pro211His)
|
rs760907327
|
|
|
NM_001985.3(ETFB):c.636G>A (p.Gly212=)
|
|
|
|
NM_001985.3(ETFB):c.648G>T (p.Val216=)
|
|
|
|
NM_001985.3(ETFB):c.652C>T (p.Leu218=)
|
|
|
|
NM_001985.3(ETFB):c.654G>C (p.Leu218=)
|
|
|
|
NM_001985.3(ETFB):c.663G>A (p.Lys221=)
|
|
|
|
NM_001985.3(ETFB):c.666C>G (p.Leu222=)
|
|
|
|
NM_001985.3(ETFB):c.666C>T (p.Leu222=)
|
|
|
|
NM_001985.3(ETFB):c.669T>C (p.Ser223=)
|
|
|
|
NM_001985.3(ETFB):c.676A>T (p.Ser226Cys)
|
rs2123567525
|
|
|
NM_001985.3(ETFB):c.690G>A (p.Pro230=)
|
|
|
|
NM_001985.3(ETFB):c.697C>T (p.Arg233Cys)
|
rs761714465
|
|
|
NM_001985.3(ETFB):c.69G>A (p.Lys23=)
|
|
|
|
NM_001985.3(ETFB):c.6G>A (p.Ala2=)
|
|
|
|
NM_001985.3(ETFB):c.6G>T (p.Ala2=)
|
rs2123621104
|
|
|
NM_001985.3(ETFB):c.705C>A (p.Ala235=)
|
|
|
|
NM_001985.3(ETFB):c.706G>C (p.Gly236Arg)
|
|
|
|
NM_001985.3(ETFB):c.715G>A (p.Val239Met)
|
|
|
|
NM_001985.3(ETFB):c.726T>C (p.Thr242=)
|
|
|
|
NM_001985.3(ETFB):c.72T>A (p.Pro24=)
|
|
|
|
NM_001985.3(ETFB):c.732C>T (p.Asp244=)
|
|
|
|
NM_001985.3(ETFB):c.747G>A (p.Leu249=)
|
|
|
|
NM_001985.3(ETFB):c.75C>T (p.Asp25=)
|
|
|
|
NM_001985.3(ETFB):c.760C>A (p.Arg254=)
|
|
|
|
NM_001985.3(ETFB):c.760C>T (p.Arg254Trp)
|
rs370522844
|
|
|
NM_001985.3(ETFB):c.762G>T (p.Arg254=)
|
rs2123567151
|
|
|
NM_001985.3(ETFB):c.78G>T (p.Arg26Ser)
|
|
|
|
NM_001985.3(ETFB):c.82G>C (p.Gly28Arg)
|
|
|
|
NM_001985.3(ETFB):c.93G>C (p.Thr31=)
|
|
|
|
NM_001985.3(ETFB):c.98G>A (p.Gly33Asp)
|
|
|
|
NM_001985.3(ETFB):c.99T>C (p.Gly33=)
|
rs2123591146
|
|
|
NM_001985.3(ETFB):c.9G>A (p.Glu3=)
|
rs2123621091
|
|
|
NM_002150.3(HPD):c.1005C>A (p.Ile335=)
|
|
|
|
NM_002150.3(HPD):c.1016C>G (p.Pro339Arg)
|
rs1877352949
|
|
|
NM_002150.3(HPD):c.1017G>A (p.Pro339=)
|
|
|
|
NM_002150.3(HPD):c.1023G>A (p.Gln341=)
|
|
|
|
NM_002150.3(HPD):c.1026C>T (p.Asp342=)
|
|
|
|
NM_002150.3(HPD):c.1029G>A (p.Arg343=)
|
|
|
|
NM_002150.3(HPD):c.1032C>A (p.Pro344=)
|
|
|
|
NM_002150.3(HPD):c.1032C>T (p.Pro344=)
|
|
|
|
NM_002150.3(HPD):c.104T>C (p.Phe35Ser)
|
rs1592923946
|
|
|
NM_002150.3(HPD):c.106T>C (p.Tyr36His)
|
|
|
|
NM_002150.3(HPD):c.1071+12C>T
|
|
|
|
NM_002150.3(HPD):c.1071+13C>T
|
|
|
|
NM_002150.3(HPD):c.1071+15C>T
|
|
|
|
NM_002150.3(HPD):c.1071+15del
|
|
|
|
NM_002150.3(HPD):c.1072-16C>G
|
|
|
|
NM_002150.3(HPD):c.1072-18CT[2]
|
|
|
|
NM_002150.3(HPD):c.1072-18_1072-16del
|
|
|
|
NM_002150.3(HPD):c.1072-4A>G
|
|
|
|
NM_002150.3(HPD):c.1072-7G>T
|
|
|
|
NM_002150.3(HPD):c.1077T>C (p.Phe359=)
|
|
|
|
NM_002150.3(HPD):c.1083C>G (p.Ala361=)
|
|
|
|
NM_002150.3(HPD):c.1086C>A (p.Gly362=)
|
|
|
|
NM_002150.3(HPD):c.1092C>A (p.Phe364Leu)
|
|
|
|
NM_002150.3(HPD):c.1097C>A (p.Ser366Ter)
|
rs369037617
|
|
|
NM_002150.3(HPD):c.1098A>G (p.Ser366=)
|
|
|
|
NM_002150.3(HPD):c.109T>C (p.Cys37Arg)
|
rs1246785384
|
|
|
NM_002150.3(HPD):c.1116G>A (p.Glu372=)
|
rs2137605580
|
|
|
NM_002150.3(HPD):c.1120G>A (p.Glu374Lys)
|
rs1020099831
|
|
|
NM_002150.3(HPD):c.1121A>T (p.Glu374Val)
|
rs1877344435
|
|
|
NM_002150.3(HPD):c.1133G>C (p.Arg378Pro)
|
rs560715209
|
|
|
NM_002150.3(HPD):c.1134G>A (p.Arg378=)
|
|
|
|
NM_002150.3(HPD):c.1151del (p.Met384fs)
|
rs1555339247
|
|
|
NM_002150.3(HPD):c.1155G>A (p.Glu385=)
|
|
|
|
NM_002150.3(HPD):c.1164G>A (p.Gly388=)
|
|
|
|
NM_002150.3(HPD):c.1173C>G (p.Pro391=)
|
|
|
|
NM_002150.3(HPD):c.1176C>T (p.Gly392=)
|
|
|
|
NM_002150.3(HPD):c.123C>T (p.Gly41=)
|
|
|
|
NM_002150.3(HPD):c.126T>C (p.Phe42=)
|
|
|
|
NM_002150.3(HPD):c.141C>T (p.Tyr47=)
|
|
|
|
NM_002150.3(HPD):c.142del (p.Arg48fs)
|
|
|
|
NM_002150.3(HPD):c.146del (p.Gly49fs)
|
|
|
|
NM_002150.3(HPD):c.147C>A (p.Gly49=)
|
|
|
|
NM_002150.3(HPD):c.147C>T (p.Gly49=)
|
|
|
|
NM_002150.3(HPD):c.148del (p.Leu50fs)
|
|
|
|
NM_002150.3(HPD):c.158dup (p.Ser54fs)
|
rs895823217
|
|
|
NM_002150.3(HPD):c.168G>A (p.Glu56=)
|
|
|
|
NM_002150.3(HPD):c.183A>G (p.Val61=)
|
|
|
|
NM_002150.3(HPD):c.184dup (p.Ile62fs)
|
|
|
|
NM_002150.3(HPD):c.198+12C>T
|
|
|
|
NM_002150.3(HPD):c.199-10_199-8del
|
|
|
|
NM_002150.3(HPD):c.199-19C>T
|
|
|
|
NM_002150.3(HPD):c.199-7A>G
|
|
|
|
NM_002150.3(HPD):c.199-8T>C
|
|
|
|
NM_002150.3(HPD):c.204G>C (p.Val68=)
|
|
|
|
NM_002150.3(HPD):c.204_205del (p.Phe69fs)
|
rs2137631671
|
|
|
NM_002150.3(HPD):c.222G>A (p.Ala74=)
|
|
|
|
NM_002150.3(HPD):c.241+10C>T
|
|
|
|
NM_002150.3(HPD):c.241+11C>G
|
|
|
|
NM_002150.3(HPD):c.241+11C>T
|
|
|
|
NM_002150.3(HPD):c.241+12G>A
|
|
|
|
NM_002150.3(HPD):c.241+14G>A
|
|
|
|
NM_002150.3(HPD):c.241+18G>A
|
|
|
|
NM_002150.3(HPD):c.242-9C>T
|
|
|
|
NM_002150.3(HPD):c.248del (p.Gly83fs)
|
|
|
|
NM_002150.3(HPD):c.250_253dup (p.His85fs)
|
|
|
|
NM_002150.3(HPD):c.256del (p.Leu86fs)
|
|
|
|
NM_002150.3(HPD):c.261G>C (p.Val87=)
|
|
|
|
NM_002150.3(HPD):c.267C>T (p.His89=)
|
|
|
|
NM_002150.3(HPD):c.288T>C (p.Ile96=)
|
|
|
|
NM_002150.3(HPD):c.295G>C (p.Glu99Gln)
|
rs199638048
|
|
|
NM_002150.3(HPD):c.297G>A (p.Glu99=)
|
|
|
|
NM_002150.3(HPD):c.3+11T>C
|
|
|
|
NM_002150.3(HPD):c.3+11del
|
|
|
|
NM_002150.3(HPD):c.3+14C>T
|
|
|
|
NM_002150.3(HPD):c.3+16A>G
|
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|
|
NM_002150.3(HPD):c.3+20C>A
|
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|
|
NM_002150.3(HPD):c.30+10C>A
|
|
|
|
NM_002150.3(HPD):c.30+10C>T
|
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|
|
NM_002150.3(HPD):c.30+11G>A
|
|
|
|
NM_002150.3(HPD):c.30+15T>G
|
|
|
|
NM_002150.3(HPD):c.30+7A>C
|
|
|
|
NM_002150.3(HPD):c.30+9G>A
|
|
|
|
NM_002150.3(HPD):c.31-12C>T
|
rs1566574884
|
|
|
NM_002150.3(HPD):c.31-14C>T
|
|
|
|
NM_002150.3(HPD):c.31-16_31-15del
|
|
|
|
NM_002150.3(HPD):c.31-1G>A
|
|
|
|
NM_002150.3(HPD):c.31-20C>T
|
|
|
|
NM_002150.3(HPD):c.31-7_31-5del
|
|
|
|
NM_002150.3(HPD):c.315C>T (p.Tyr105=)
|
|
|
|
NM_002150.3(HPD):c.324+12C>T
|
rs1394625839
|
|
|
NM_002150.3(HPD):c.324+19G>A
|
|
|
|
NM_002150.3(HPD):c.324+20G>A
|
rs147479059
|
|
|
NM_002150.3(HPD):c.324+20G>T
|
|
|
|
NM_002150.3(HPD):c.324+8A>G
|
rs2137630925
|
|
|
NM_002150.3(HPD):c.324+9G>A
|
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|
|
NM_002150.3(HPD):c.324+9G>C
|
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|
|
NM_002150.3(HPD):c.325-12T>A
|
|
|
|
NM_002150.3(HPD):c.325-15C>T
|
|
|
|
NM_002150.3(HPD):c.325-19G>A
|
|
|
|
NM_002150.3(HPD):c.325-19G>C
|
rs200528285
|
|
|
NM_002150.3(HPD):c.325-20C>T
|
|
|
|
NM_002150.3(HPD):c.325-4G>T
|
|
|
|
NM_002150.3(HPD):c.325-8_325-6del
|
|
|
|
NM_002150.3(HPD):c.33T>C (p.Pro11=)
|
|
|
|
NM_002150.3(HPD):c.33T>G (p.Pro11=)
|
|
|
|
NM_002150.3(HPD):c.342C>A (p.Gly114=)
|
|
|
|
NM_002150.3(HPD):c.355C>A (p.Arg119=)
|
rs745739337
|
|
|
NM_002150.3(HPD):c.356_358del (p.Arg119_Glu120delinsGln)
|
rs1877932887
|
|
|
NM_002150.3(HPD):c.36G>A (p.Glu12=)
|
|
|
|
NM_002150.3(HPD):c.381G>A (p.Lys127=)
|
|
|
|
NM_002150.3(HPD):c.398T>C (p.Phe133Ser)
|
|
|
|
NM_002150.3(HPD):c.4-17C>T
|
|
|
|
NM_002150.3(HPD):c.4-2A>G
|
|
|
|
NM_002150.3(HPD):c.4-6C>T
|
|
|
|
NM_002150.3(HPD):c.414+11T>C
|
|
|
|
NM_002150.3(HPD):c.414+12T>C
|
|
|
|
NM_002150.3(HPD):c.414+14G>A
|
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|
|
NM_002150.3(HPD):c.414+18C>A
|
|
|
|
NM_002150.3(HPD):c.414+18C>G
|
|
|
|
NM_002150.3(HPD):c.414+1G>C
|
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|
|
NM_002150.3(HPD):c.415-19G>C
|
|
|
|
NM_002150.3(HPD):c.415-5C>G
|
|
|
|
NM_002150.3(HPD):c.415-5C>T
|
|
|
|
NM_002150.3(HPD):c.415-9C>T
|
|
|
|
NM_002150.3(HPD):c.415T>A (p.Tyr139Asn)
|
rs1877705055
|
|
|
NM_002150.3(HPD):c.420G>A (p.Gly140=)
|
|
|
|
NM_002150.3(HPD):c.42C>T (p.Gly14=)
|
|
|
|
NM_002150.3(HPD):c.44G>C (p.Arg15Pro)
|
|
|
|
NM_002150.3(HPD):c.459C>T (p.Ile153=)
|
|
|
|
NM_002150.3(HPD):c.460G>C (p.Gly154Arg)
|
|
|
|
NM_002150.3(HPD):c.471G>A (p.Leu157=)
|
|
|
|
NM_002150.3(HPD):c.474T>G (p.Pro158=)
|
|
|
|
NM_002150.3(HPD):c.485C>T (p.Ala162Val)
|
rs1566570874
|
|
|
NM_002150.3(HPD):c.492G>A (p.Ala164=)
|
|
|
|
NM_002150.3(HPD):c.518+12T>C
|
|
|
|
NM_002150.3(HPD):c.518+13C>T
|
|
|
|
NM_002150.3(HPD):c.518+14A>G
|
|
|
|
NM_002150.3(HPD):c.518+17G>T
|
|
|
|
NM_002150.3(HPD):c.519-16C>T
|
|
|
|
NM_002150.3(HPD):c.519-20_519-19dup
|
|
|
|
NM_002150.3(HPD):c.519-8C>T
|
|
|
|
NM_002150.3(HPD):c.537G>A (p.Glu179=)
|
rs2137618516
|
|
|
NM_002150.3(HPD):c.543C>A (p.Ile181=)
|
|
|
|
NM_002150.3(HPD):c.543C>T (p.Ile181=)
|
rs756242095
|
|
|
NM_002150.3(HPD):c.561C>G (p.Asn187Lys)
|
rs1438994844
|
|
|
NM_002150.3(HPD):c.573G>A (p.Gln191=)
|
|
|
|
NM_002150.3(HPD):c.585C>T (p.Ser195=)
|
|
|
|
NM_002150.3(HPD):c.588C>T (p.Ala196=)
|
|
|
|
NM_002150.3(HPD):c.591C>T (p.Ser197=)
|
|
|
|
NM_002150.3(HPD):c.596+12del
|
|
|
|
NM_002150.3(HPD):c.596+18T>C
|
|
|
|
NM_002150.3(HPD):c.596+7C>A
|
|
|
|
NM_002150.3(HPD):c.597-10C>T
|
|
|
|
NM_002150.3(HPD):c.597-13G>A
|
|
|
|
NM_002150.3(HPD):c.597-14C>T
|
|
|
|
NM_002150.3(HPD):c.597-16A>G
|
|
|
|
NM_002150.3(HPD):c.597-18C>T
|
|
|
|
NM_002150.3(HPD):c.597-1G>A
|
|
|
|
NM_002150.3(HPD):c.597-20T>C
|
|
|
|
NM_002150.3(HPD):c.597-7C>T
|
|
|
|
NM_002150.3(HPD):c.60C>T (p.His20=)
|
|
|
|
NM_002150.3(HPD):c.613C>T (p.Gln205Ter)
|
|
|
|
NM_002150.3(HPD):c.618C>T (p.Phe206=)
|
|
|
|
NM_002150.3(HPD):c.624C>T (p.Arg208=)
|
|
|
|
NM_002150.3(HPD):c.633C>G (p.Ser211=)
|
|
|
|
NM_002150.3(HPD):c.633C>T (p.Ser211=)
|
|
|
|
NM_002150.3(HPD):c.645G>A (p.Thr215=)
|
|
|
|
NM_002150.3(HPD):c.645G>C (p.Thr215=)
|
|
|
|
NM_002150.3(HPD):c.645G>T (p.Thr215=)
|
|
|
|
NM_002150.3(HPD):c.657G>A (p.Thr219=)
|
|
|
|
NM_002150.3(HPD):c.663T>C (p.Tyr221=)
|
|
|
|
NM_002150.3(HPD):c.666C>T (p.Ser222=)
|
|
|
|
NM_002150.3(HPD):c.684G>A (p.Val228=)
|
|
|
|
NM_002150.3(HPD):c.688G>A (p.Ala230Thr)
|
rs2137616170
|
|
|
NM_002150.3(HPD):c.699A>G (p.Glu233=)
|
|
|
|
NM_002150.3(HPD):c.6G>A (p.Thr2=)
|
|
|
|
NM_002150.3(HPD):c.715_724del (p.Pro239fs)
|
|
|
|
NM_002150.3(HPD):c.732G>A (p.Ala244=)
|
|
|
|
NM_002150.3(HPD):c.732G>T (p.Ala244=)
|
|
|
|
NM_002150.3(HPD):c.735T>A (p.Pro245=)
|
|
|
|
NM_002150.3(HPD):c.759+12C>T
|
|
|
|
NM_002150.3(HPD):c.759+17C>T
|
|
|
|
NM_002150.3(HPD):c.759+19G>C
|
|
|
|
NM_002150.3(HPD):c.759+19G>T
|
|
|
|
NM_002150.3(HPD):c.759+9G>A
|
|
|
|
NM_002150.3(HPD):c.759+9G>C
|
|
|
|
NM_002150.3(HPD):c.760-11C>G
|
|
|
|
NM_002150.3(HPD):c.760-18_760-16del
|
|
|
|
NM_002150.3(HPD):c.760-19_760-17del
|
|
|
|
NM_002150.3(HPD):c.777C>T (p.Asn259=)
|
|
|
|
NM_002150.3(HPD):c.780G>A (p.Gly260=)
|
|
|
|
NM_002150.3(HPD):c.783C>T (p.Gly261=)
|
|
|
|
NM_002150.3(HPD):c.789G>T (p.Gly263=)
|
|
|
|
NM_002150.3(HPD):c.798C>T (p.His266=)
|
|
|
|
NM_002150.3(HPD):c.802G>A (p.Ala268Thr)
|
|
|
|
NM_002150.3(HPD):c.831+11C>G
|
|
|
|
NM_002150.3(HPD):c.831+11C>T
|
|
|
|
NM_002150.3(HPD):c.831+12C>T
|
|
|
|
NM_002150.3(HPD):c.831+16C>A
|
|
|
|
NM_002150.3(HPD):c.831+7A>T
|
|
|
|
NM_002150.3(HPD):c.831+9C>A
|
|
|
|
NM_002150.3(HPD):c.831+9C>T
|
|
|
|
NM_002150.3(HPD):c.832-12G>A
|
|
|
|
NM_002150.3(HPD):c.832-15T>C
|
|
|
|
NM_002150.3(HPD):c.832-16C>T
|
|
|
|
NM_002150.3(HPD):c.835C>G (p.Arg279Gly)
|
|
|
|
NM_002150.3(HPD):c.84C>T (p.Asn28=)
|
rs1441672343
|
|
|
NM_002150.3(HPD):c.850_853del (p.Arg284fs)
|
|
|
|
NM_002150.3(HPD):c.852A>G (p.Arg284=)
|
|
|
|
NM_002150.3(HPD):c.852_853del (p.Gly285fs)
|
rs142252243
|
|
|
NM_002150.3(HPD):c.852_853dup (p.Gly285fs)
|
|
|
|
NM_002150.3(HPD):c.85G>A (p.Ala29Thr)
|
|
|
|
NM_002150.3(HPD):c.865_866del (p.Leu289fs)
|
|
|
|
NM_002150.3(HPD):c.867A>G (p.Leu289=)
|
|
|
|
NM_002150.3(HPD):c.87C>T (p.Ala29=)
|
|
|
|
NM_002150.3(HPD):c.882G>T (p.Thr294=)
|
|
|
|
NM_002150.3(HPD):c.898C>T (p.Arg300Trp)
|
rs149281612
|
|
|
NM_002150.3(HPD):c.899G>A (p.Arg300Gln)
|
|
|
|
NM_002150.3(HPD):c.906G>A (p.Lys302=)
|
|
|
|
NM_002150.3(HPD):c.90G>A (p.Lys30=)
|
|
|
|
NM_002150.3(HPD):c.91C>T (p.Gln31Ter)
|
|
|
|
NM_002150.3(HPD):c.93+10G>A
|
|
|
|
NM_002150.3(HPD):c.93+16A>G
|
|
|
|
NM_002150.3(HPD):c.93+2T>C
|
|
|
|
NM_002150.3(HPD):c.93+3A>G
|
|
|
|
NM_002150.3(HPD):c.94-13C>T
|
|
|
|
NM_002150.3(HPD):c.94-9G>A
|
|
|
|
NM_002150.3(HPD):c.942T>C (p.Ile314=)
|
|
|
|
NM_002150.3(HPD):c.945T>C (p.Asp315=)
|
|
|
|
NM_002150.3(HPD):c.949C>T (p.Leu317=)
|
|
|
|
NM_002150.3(HPD):c.954+17A>T
|
|
|
|
NM_002150.3(HPD):c.954+20C>T
|
|
|
|
NM_002150.3(HPD):c.954+9del
|
|
|
|
NM_002150.3(HPD):c.955-11C>T
|
|
|
|
NM_002150.3(HPD):c.955-14del
|
|
|
|
NM_002150.3(HPD):c.955-15_955-14del
|
|
|
|
NM_002150.3(HPD):c.955-19C>A
|
|
|
|
NM_002150.3(HPD):c.955-4C>T
|
|
|
|
NM_002150.3(HPD):c.955-6G>T
|
|
|
|
NM_002150.3(HPD):c.955-7C>G
|
rs554245277
|
|
|
NM_002150.3(HPD):c.955-7C>T
|
|
|
|
NM_002150.3(HPD):c.957G>A (p.Glu319=)
|
|
|
|
NM_002150.3(HPD):c.978C>T (p.Tyr326=)
|
rs781659195
|
|
|
NM_002150.3(HPD):c.987A>G (p.Lys329=)
|
|
|
|
NM_002150.3(HPD):c.993C>T (p.Tyr331=)
|
|
|
|
NM_002150.3(HPD):c.99G>A (p.Thr33=)
|
|
|
|
NM_002150.3(HPD):c.9T>C (p.Thr3=)
|
|
|
|
NM_002225.5(IVD):c.-4A>G
|
rs2141288785
|
|
|
NM_002225.5(IVD):c.1005G>C (p.Ala335=)
|
rs570369496
|
|
|
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
|
rs2141360315
|
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
|
NM_002225.5(IVD):c.1029C>T (p.Val343=)
|
rs896815486
|
|
|
NM_002225.5(IVD):c.102C>G (p.Pro34=)
|
rs2141289869
|
|
|
NM_002225.5(IVD):c.102C>T (p.Pro34=)
|
|
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
|
NM_002225.5(IVD):c.1044T>C (p.Asp348=)
|
rs2141360469
|
|
|
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
|
rs2141360637
|
|
|
NM_002225.5(IVD):c.1065+11G>C
|
|
|
|
NM_002225.5(IVD):c.1065+13C>T
|
|
|
|
NM_002225.5(IVD):c.1065+16A>C
|
|
|
|
NM_002225.5(IVD):c.1065+19C>T
|
|
|
|
NM_002225.5(IVD):c.1065+20G>A
|
|
|
|
NM_002225.5(IVD):c.1065+7G>A
|
rs1238566157
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
|
NM_002225.5(IVD):c.1066-18C>G
|
|
|
|
NM_002225.5(IVD):c.1066-18C>T
|
|
|
|
NM_002225.5(IVD):c.1066-19C>T
|
|
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
|
NM_002225.5(IVD):c.1066-4G>T
|
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
|
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
|
rs1891674455
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
|
NM_002225.5(IVD):c.1080G>T (p.Val360=)
|
|
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
|
NM_002225.5(IVD):c.1092A>G (p.Ser364=)
|
rs2141361852
|
|
|
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
|
|
|
|
NM_002225.5(IVD):c.1095T>C (p.Ala365=)
|
rs1595790601
|
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
|
NM_002225.5(IVD):c.1104C>T (p.Ala368=)
|
rs1050218
|
|
|
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
|
|
|
|
NM_002225.5(IVD):c.1107A>G (p.Thr369=)
|
rs1286789645
|
|
|
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
|
|
|
|
NM_002225.5(IVD):c.1119G>A (p.Leu373=)
|
rs1891680267
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
|
NM_002225.5(IVD):c.1138+10C>A
|
|
|
|
NM_002225.5(IVD):c.1138+13C>A
|
|
|
|
NM_002225.5(IVD):c.1138+14A>C
|
|
|
|
NM_002225.5(IVD):c.1138+19C>G
|
|
|
|
NM_002225.5(IVD):c.1138+20C>T
|
|
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
|
NM_002225.5(IVD):c.1139-10C>G
|
|
|
|
NM_002225.5(IVD):c.1139-11C>A
|
|
|
|
NM_002225.5(IVD):c.1139-11C>G
|
|
|
|
NM_002225.5(IVD):c.1139-12C>T
|
|
|
|
NM_002225.5(IVD):c.1139-16C>T
|
|
|
|
NM_002225.5(IVD):c.1139-18C>T
|
|
|
|
NM_002225.5(IVD):c.1139-19G>T
|
|
|
|
NM_002225.5(IVD):c.1139-20T>C
|
|
|
|
NM_002225.5(IVD):c.1139-4G>A
|
|
|
|
NM_002225.5(IVD):c.1139-5T>G
|
|
|
|
NM_002225.5(IVD):c.1139-7G>A
|
rs2141373271
|
|
|
NM_002225.5(IVD):c.114A>G (p.Ala38=)
|
|
|
|
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
|
|
|
|
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
|
|
|
|
NM_002225.5(IVD):c.1167C>T (p.Pro389=)
|
rs2141373519
|
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
|
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
|
|
|
|
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
|
|
|
|
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs)
|
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
|
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
|
|
|
|
NM_002225.5(IVD):c.120T>C (p.Asn40=)
|
|
|
|
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
|
|
|
|
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
|
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
|
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
|
|
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
|
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
|
rs756694379
|
|
|
NM_002225.5(IVD):c.124C>T (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
|
NM_002225.5(IVD):c.126A>C (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.126A>G (p.Leu42=)
|
|
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
|
NM_002225.5(IVD):c.12G>C (p.Ala4=)
|
|
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
|
NM_002225.5(IVD):c.144+10C>G
|
rs2141290384
|
|
|
NM_002225.5(IVD):c.144+15C>T
|
|
|
|
NM_002225.5(IVD):c.144+17C>T
|
|
|
|
NM_002225.5(IVD):c.144+18C>T
|
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
|
NM_002225.5(IVD):c.144+20del
|
|
|
|
NM_002225.5(IVD):c.144+7A>C
|
rs1595750832
|
|
|
NM_002225.5(IVD):c.144+8G>A
|
rs1248918125
|
|
|
NM_002225.5(IVD):c.145-10C>T
|
rs1451681639
|
|
|
NM_002225.5(IVD):c.145-14C>T
|
|
|
|
NM_002225.5(IVD):c.145-19T>C
|
|
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
|
NM_002225.5(IVD):c.145-7C>T
|
rs2141301246
|
|
|
NM_002225.5(IVD):c.145-8C>G
|
|
|
|
NM_002225.5(IVD):c.145-8C>T
|
rs1890586123
|
|
|
NM_002225.5(IVD):c.145-9T>C
|
|
|
|
NM_002225.5(IVD):c.147T>C (p.Leu49=)
|
rs2141301309
|
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
|
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
|
|
|
|
NM_002225.5(IVD):c.150del (p.Gln51fs)
|
rs2141301396
|
|
|
NM_002225.5(IVD):c.156C>G (p.Thr52=)
|
rs2141301442
|
|
|
NM_002225.5(IVD):c.15T>C (p.Thr5=)
|
rs2141289023
|
|
|
NM_002225.5(IVD):c.162T>C (p.Ala54=)
|
|
|
|
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
|
|
|
|
NM_002225.5(IVD):c.174G>A (p.Gln58=)
|
rs2141301579
|
|
|
NM_002225.5(IVD):c.177G>A (p.Glu59=)
|
|
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
|
NM_002225.5(IVD):c.181C>T (p.Leu61=)
|
|
|
|
NM_002225.5(IVD):c.195C>T (p.Ala65=)
|
rs764288165
|
|
|
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
|
rs199865931
|
|
|
NM_002225.5(IVD):c.204C>A (p.Ile68=)
|
|
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
|
NM_002225.5(IVD):c.225G>A (p.Lys75=)
|
rs1018215813
|
|
|
NM_002225.5(IVD):c.225del (p.Asn76fs)
|
rs2141302044
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
|
NM_002225.5(IVD):c.232C>A (p.Arg78=)
|
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
|
NM_002225.5(IVD):c.234+10G>A
|
|
|
|
NM_002225.5(IVD):c.234+10del
|
rs745874056
|
|
|
NM_002225.5(IVD):c.234+16C>G
|
|
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
|
NM_002225.5(IVD):c.234+17G>C
|
|
|
|
NM_002225.5(IVD):c.234+25_234+34dup
|
|
|
|
NM_002225.5(IVD):c.235-13A>G
|
|
|
|
NM_002225.5(IVD):c.235-15C>T
|
|
|
|
NM_002225.5(IVD):c.235-1G>A
|
|
|
|
NM_002225.5(IVD):c.235-20C>T
|
|
|
|
NM_002225.5(IVD):c.235-5G>C
|
|
|
|
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)
|
rs767782379
|
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
|
NM_002225.5(IVD):c.255G>A (p.Gly85=)
|
rs778593528
|
|
|
NM_002225.5(IVD):c.259del (p.Leu87fs)
|
|
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
|
NM_002225.5(IVD):c.264C>A (p.Gly88=)
|
rs377199313
|
|
|
NM_002225.5(IVD):c.264C>G (p.Gly88=)
|
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
|
NM_002225.5(IVD):c.267A>G (p.Val89=)
|
|
|
|
NM_002225.5(IVD):c.268T>C (p.Leu90=)
|
|
|
|
NM_002225.5(IVD):c.270G>A (p.Leu90=)
|
|
|
|
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
|
|
|
|
NM_002225.5(IVD):c.285del (p.Val96fs)
|
|
|
|
NM_002225.5(IVD):c.286+14C>G
|
|
|
|
NM_002225.5(IVD):c.286+16_286+17del
|
rs775497134
|
|
|
NM_002225.5(IVD):c.286+18C>G
|
|
|
|
NM_002225.5(IVD):c.286+18C>T
|
|
|
|
NM_002225.5(IVD):c.286+3_286+6dup
|
|
|
|
NM_002225.5(IVD):c.287-10C>T
|
|
|
|
NM_002225.5(IVD):c.287-11A>G
|
|
|
|
NM_002225.5(IVD):c.287-12C>T
|
|
|
|
NM_002225.5(IVD):c.287-14C>G
|
|
|
|
NM_002225.5(IVD):c.287-18G>T
|
|
|
|
NM_002225.5(IVD):c.287-19T>G
|
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
|
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
|
rs2141322944
|
|
|
NM_002225.5(IVD):c.297C>A (p.Gly99=)
|
rs377129112
|
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
|
NM_002225.5(IVD):c.300C>A (p.Gly100=)
|
|
|
|
NM_002225.5(IVD):c.300C>T (p.Gly100=)
|
|
|
|
NM_002225.5(IVD):c.306C>A (p.Gly102=)
|
rs1890967563
|
|
|
NM_002225.5(IVD):c.307C>T (p.Leu103=)
|
|
|
|
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
|
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
|
NM_002225.5(IVD):c.321G>A (p.Glu107=)
|
rs1448958748
|
|
|
NM_002225.5(IVD):c.324T>C (p.His108=)
|
|
|
|
NM_002225.5(IVD):c.327G>A (p.Val109=)
|
|
|
|
NM_002225.5(IVD):c.339G>A (p.Glu113=)
|
|
|
|
NM_002225.5(IVD):c.33T>C (p.Arg11=)
|
rs2141289261
|
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
|
NM_002225.5(IVD):c.360A>G (p.Gly120=)
|
rs2141323670
|
|
|
NM_002225.5(IVD):c.363A>T (p.Ala121=)
|
|
|
|
NM_002225.5(IVD):c.369G>T (p.Gly123=)
|
|
|
|
NM_002225.5(IVD):c.36G>A (p.Val12=)
|
rs2141289293
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
|
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
|
rs1360239245
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
|
NM_002225.5(IVD):c.381T>C (p.Gly127=)
|
rs2141323846
|
|
|
NM_002225.5(IVD):c.384C>A (p.Ala128=)
|
rs2141323906
|
|
|
NM_002225.5(IVD):c.387C>T (p.His129=)
|
|
|
|
NM_002225.5(IVD):c.402C>T (p.Ile134=)
|
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
|
NM_002225.5(IVD):c.420T>C (p.Asn140=)
|
rs1890984701
|
|
|
NM_002225.5(IVD):c.426T>C (p.Asn142=)
|
rs1025400393
|
|
|
NM_002225.5(IVD):c.432C>G (p.Ala144=)
|
rs1213604093
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
|
NM_002225.5(IVD):c.444G>A (p.Lys148=)
|
rs768172531
|
|
|
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
|
|
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
|
NM_002225.5(IVD):c.456+11G>A
|
|
|
|
NM_002225.5(IVD):c.456+11G>C
|
|
|
|
NM_002225.5(IVD):c.456+12G>A
|
|
|
|
NM_002225.5(IVD):c.456+12G>T
|
|
|
|
NM_002225.5(IVD):c.456+15A>G
|
|
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
|
NM_002225.5(IVD):c.457-12T>C
|
|
|
|
NM_002225.5(IVD):c.457-16G>A
|
|
|
|
NM_002225.5(IVD):c.457-19T>C
|
|
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
|
NM_002225.5(IVD):c.457-20G>A
|
|
|
|
NM_002225.5(IVD):c.457-20G>T
|
|
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
|
NM_002225.5(IVD):c.457-4G>A
|
rs2141328194
|
|
|
NM_002225.5(IVD):c.457-7C>T
|
rs2141328172
|
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
|
NM_002225.5(IVD):c.459G>C (p.Leu153=)
|
rs372974651
|
|
|
NM_002225.5(IVD):c.462C>A (p.Ile154=)
|
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
|
NM_002225.5(IVD):c.468T>A (p.Gly156=)
|
|
|
|
NM_002225.5(IVD):c.489C>T (p.Ala163=)
|
|
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
|
NM_002225.5(IVD):c.495T>C (p.Ser165=)
|
|
|
|
NM_002225.5(IVD):c.498G>A (p.Glu166=)
|
rs1891054324
|
|
|
NM_002225.5(IVD):c.49C>T (p.Leu17=)
|
|
|
|
NM_002225.5(IVD):c.504T>C (p.Asn168=)
|
rs1472673106
|
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
|
NM_002225.5(IVD):c.507A>G (p.Ala169=)
|
|
|
|
NM_002225.5(IVD):c.507A>T (p.Ala169=)
|
|
|
|
NM_002225.5(IVD):c.513T>C (p.Ser171=)
|
rs2141328958
|
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
|
NM_002225.5(IVD):c.522C>G (p.Val174=)
|
|
|
|
NM_002225.5(IVD):c.525T>C (p.Ser175=)
|
|
|
|
NM_002225.5(IVD):c.531G>A (p.Lys177=)
|
rs1891059665
|
|
|
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)
|
rs2141329244
|
|
|
NM_002225.5(IVD):c.550+10C>G
|
rs762786940
|
|
|
NM_002225.5(IVD):c.550+10C>T
|
rs762786940
|
|
|
NM_002225.5(IVD):c.550+17C>T
|
|
|
|
NM_002225.5(IVD):c.550+18T>G
|
|
|
|
NM_002225.5(IVD):c.550+19T>G
|
|
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
|
NM_002225.5(IVD):c.551-17C>T
|
|
|
|
NM_002225.5(IVD):c.551-5C>T
|
rs762840448
|
|
|
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
|
|
|
|
NM_002225.5(IVD):c.564C>T (p.Ile188=)
|
rs1171530725
|
|
|
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
|
|
|
|
NM_002225.5(IVD):c.588C>T (p.Ile196=)
|
rs2141331170
|
|
|
NM_002225.5(IVD):c.591T>C (p.Thr197=)
|
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_002225.5(IVD):c.612C>T (p.Val204=)
|
|
|
|
NM_002225.5(IVD):c.613C>T (p.Leu205=)
|
rs1891095620
|
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
|
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
rs1890343709
|
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
|
NM_002225.5(IVD):c.624T>C (p.Tyr208=)
|
rs1267359192
|
|
|
NM_002225.5(IVD):c.630G>A (p.Lys210=)
|
rs1337743160
|
|
|
NM_002225.5(IVD):c.633A>C (p.Thr211=)
|
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
|
NM_002225.5(IVD):c.639G>C (p.Leu213=)
|
rs2141331622
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
|
NM_002225.5(IVD):c.642T>G (p.Ala214=)
|
rs2141331657
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
|
NM_002225.5(IVD):c.669dup (p.Ala224fs)
|
|
|
|
NM_002225.5(IVD):c.66C>G (p.Ala22=)
|
rs2141289538
|
|
|
NM_002225.5(IVD):c.66C>T (p.Ala22=)
|
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
|
NM_002225.5(IVD):c.681G>A (p.Val227=)
|
|
|
|
NM_002225.5(IVD):c.685_687+15del
|
rs2141332016
|
|
|
NM_002225.5(IVD):c.687+1G>C
|
rs2141332035
|
|
|
NM_002225.5(IVD):c.687+2T>C
|
rs2141332040
|
|
|
NM_002225.5(IVD):c.687+7_687+16del
|
rs975307399
|
|
|
NM_002225.5(IVD):c.687+8T>C
|
rs1426896228
|
|
|
NM_002225.5(IVD):c.687+8T>G
|
rs1426896228
|
|
|
NM_002225.5(IVD):c.688-13G>A
|
rs2141339742
|
|
|
NM_002225.5(IVD):c.688-14del
|
rs561133272
|
|
|
NM_002225.5(IVD):c.688-19C>T
|
|
|
|
NM_002225.5(IVD):c.688-6G>A
|
rs770402490
|
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
|
NM_002225.5(IVD):c.69C>T (p.Gly23=)
|
|
|
|
NM_002225.5(IVD):c.6G>T (p.Ala2=)
|
|
|
|
NM_002225.5(IVD):c.708C>G (p.Thr236=)
|
|
|
|
NM_002225.5(IVD):c.717G>A (p.Lys239=)
|
|
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
|
NM_002225.5(IVD):c.720G>A (p.Leu240=)
|
rs2141340085
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
|
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
|
|
|
|
NM_002225.5(IVD):c.727C>T (p.Leu243=)
|
|
|
|
NM_002225.5(IVD):c.72C>T (p.Phe24=)
|
rs1403443551
|
|
|
NM_002225.5(IVD):c.732G>A (p.Gly244=)
|
|
|
|
NM_002225.5(IVD):c.738G>A (p.Arg246=)
|
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
|
NM_002225.5(IVD):c.750C>T (p.Thr250=)
|
rs2141340373
|
|
|
NM_002225.5(IVD):c.762C>A (p.Ile254=)
|
|
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
|
NM_002225.5(IVD):c.774C>T (p.Cys258=)
|
|
|
|
NM_002225.5(IVD):c.784+11C>T
|
|
|
|
NM_002225.5(IVD):c.784+15G>C
|
|
|
|
NM_002225.5(IVD):c.784+18del
|
|
|
|
NM_002225.5(IVD):c.784+19C>T
|
|
|
|
NM_002225.5(IVD):c.784+7A>T
|
|
|
|
NM_002225.5(IVD):c.785-19C>T
|
|
|
|
NM_002225.5(IVD):c.785-2A>T
|
|
|
|
NM_002225.5(IVD):c.785-7C>T
|
rs2141351235
|
|
|
NM_002225.5(IVD):c.789C>T (p.Ala263=)
|
|
|
|
NM_002225.5(IVD):c.78C>G (p.Ser26=)
|
|
|
|
NM_002225.5(IVD):c.792C>T (p.Asn264=)
|
|
|
|
NM_002225.5(IVD):c.795C>T (p.Ile265=)
|
|
|
|
NM_002225.5(IVD):c.798G>A (p.Leu266=)
|
|
|
|
NM_002225.5(IVD):c.804T>C (p.His268=)
|
|
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
|
NM_002225.5(IVD):c.837G>A (p.Gly279=)
|
rs754853734
|
|
|
NM_002225.5(IVD):c.838_841del (p.Leu280fs)
|
rs2141351682
|
|
|
NM_002225.5(IVD):c.840G>A (p.Leu280=)
|
rs2141351717
|
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
|
NM_002225.5(IVD):c.844C>T (p.Leu282=)
|
|
|
|
NM_002225.5(IVD):c.846G>A (p.Leu282=)
|
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
|
NM_002225.5(IVD):c.84G>C (p.Arg28=)
|
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
|
NM_002225.5(IVD):c.864C>G (p.Ala288=)
|
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
|
NM_002225.5(IVD):c.870G>A (p.Gly290=)
|
rs1285915480
|
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
rs759159766
|
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
|
NM_002225.5(IVD):c.878+15C>G
|
|
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
|
NM_002225.5(IVD):c.878+7G>A
|
|
|
|
NM_002225.5(IVD):c.879-12C>T
|
|
|
|
NM_002225.5(IVD):c.879-19C>T
|
|
|
|
NM_002225.5(IVD):c.879-5G>C
|
rs750569823
|
|
|
NM_002225.5(IVD):c.879-7C>T
|
rs2141355100
|
|
|
NM_002225.5(IVD):c.87C>A (p.Ala29=)
|
|
|
|
NM_002225.5(IVD):c.87C>G (p.Ala29=)
|
rs751297903
|
|
|
NM_002225.5(IVD):c.87C>T (p.Ala29=)
|
rs751297903
|
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
|
NM_002225.5(IVD):c.882C>G (p.Leu294=)
|
|
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
|
NM_002225.5(IVD):c.888A>G (p.Gln296=)
|
|
|
|
NM_002225.5(IVD):c.891G>T (p.Ala297=)
|
rs138427412
|
|
|
NM_002225.5(IVD):c.894C>T (p.Val298=)
|
rs1566940284
|
|
|
NM_002225.5(IVD):c.906C>A (p.Thr302=)
|
rs1891560320
|
|
|
NM_002225.5(IVD):c.912C>T (p.Pro304=)
|
rs1324916195
|
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
|
NM_002225.5(IVD):c.921C>T (p.His307=)
|
rs1304408183
|
|
|
NM_002225.5(IVD):c.930A>G (p.Glu310=)
|
rs1209121749
|
|
|
NM_002225.5(IVD):c.954C>T (p.His318=)
|
rs1595787254
|
|
|
NM_002225.5(IVD):c.957C>T (p.Phe319=)
|
rs1197885966
|
|
|
NM_002225.5(IVD):c.960+7C>A
|
|
|
|
NM_002225.5(IVD):c.961-13C>A
|
|
|
|
NM_002225.5(IVD):c.961-16A>G
|
|
|
|
NM_002225.5(IVD):c.961-20T>C
|
|
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
|
NM_002225.5(IVD):c.961-5C>T
|
|
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
|
NM_002225.5(IVD):c.985_986del (p.Met329fs)
|
|
|
|
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
|
|
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
|
NM_002225.5(IVD):c.99G>A (p.Leu33=)
|
|
|
|
NM_002454.3(MTRR):c.-26+755C>A
|
rs326119
|
|
|
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
|
|
|
|
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
|
|
|
|
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
|
|
|
|
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
|
|
|
|
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
|
|
|
|
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
|
|
|
|
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
|
|
|
|
NM_002454.3(MTRR):c.1041A>C (p.Ala347=)
|
rs1331838959
|
|
|
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
|
|
|
|
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs)
|
rs2126745614
|
|
|
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs)
|
rs2126745648
|
|
|
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
|
|
|
|
NM_002454.3(MTRR):c.1057+12G>A
|
|
|
|
NM_002454.3(MTRR):c.1057+17T>C
|
|
|
|
NM_002454.3(MTRR):c.1057+8C>G
|
rs1325906968
|
|
|
NM_002454.3(MTRR):c.1057+8C>T
|
|
|
|
NM_002454.3(MTRR):c.1057+9_1057+16del
|
|
|
|
NM_002454.3(MTRR):c.1058-5A>C
|
rs2126751043
|
|
|
NM_002454.3(MTRR):c.1058-8del
|
rs1736476987
|
|
|
NM_002454.3(MTRR):c.1058-9C>T
|
rs1736476286
|
|
|
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
|
|
|
|
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
|
|
|
|
NM_002454.3(MTRR):c.1066T>C (p.Leu356=)
|
rs2126751152
|
|
|
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
|
|
|
|
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)
|
rs2126751184
|
|
|
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
|
|
|
|
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)
|
rs776598893
|
|
|
NM_002454.3(MTRR):c.1074G>A (p.Gln358=)
|
rs1561229685
|
|
|
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)
|
rs1405292334
|
|
|
NM_002454.3(MTRR):c.1077T>C (p.His359=)
|
|
|
|
NM_002454.3(MTRR):c.1083T>C (p.Pro361=)
|
rs1405600544
|
|
|
NM_002454.3(MTRR):c.1089A>G (p.Gly363=)
|
rs1561230017
|
|
|
NM_002454.3(MTRR):c.108C>T (p.His36=)
|
|
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
|
NM_002454.3(MTRR):c.109dup (p.Cys37fs)
|
rs1747853230
|
|
|
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
|
|
|
|
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)
|
rs772547714
|
|
|
NM_002454.3(MTRR):c.1125A>G (p.Glu375=)
|
rs1425446891
|
|
|
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
|
|
|
|
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
|
|
|
|
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
|
|
|
|
NM_002454.3(MTRR):c.1146+10del
|
rs750264866
|
|
|
NM_002454.3(MTRR):c.1146+10dup
|
rs750264866
|
|
|
NM_002454.3(MTRR):c.1146+13G>T
|
|
|
|
NM_002454.3(MTRR):c.1146+19T>G
|
|
|
|
NM_002454.3(MTRR):c.1146+1G>C
|
rs772608494
|
|
|
NM_002454.3(MTRR):c.1146+3A>G
|
|
|
|
NM_002454.3(MTRR):c.1147-11C>G
|
rs1015760904
|
|
|
NM_002454.3(MTRR):c.1147-14G>A
|
rs9282791
|
|
|
NM_002454.3(MTRR):c.1147-14G>T
|
|
|
|
NM_002454.3(MTRR):c.1147-15G>T
|
|
|
|
NM_002454.3(MTRR):c.1147-17C>T
|
|
|
|
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter)
|
rs1737110583
|
|
|
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs)
|
rs1561245416
|
|
|
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
|
|
|
|
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
|
|
|
|
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
|
rs1579758005
|
|
|
NM_002454.3(MTRR):c.1203A>G (p.Leu401=)
|
rs200661044
|
|
|
NM_002454.3(MTRR):c.1209G>A (p.Glu403=)
|
rs1324764527
|
|
|
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
|
|
|
|
NM_002454.3(MTRR):c.1212G>T (p.Leu404=)
|
rs2126771253
|
|
|
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
|
|
|
|
NM_002454.3(MTRR):c.1221A>G (p.Lys407=)
|
rs2126771342
|
|
|
NM_002454.3(MTRR):c.1230A>C (p.Ala410=)
|
rs2126771427
|
|
|
NM_002454.3(MTRR):c.1233C>G (p.Ala411=)
|
rs752174231
|
|
|
NM_002454.3(MTRR):c.1233C>T (p.Ala411=)
|
rs752174231
|
|
|
NM_002454.3(MTRR):c.1248T>C (p.Phe416=)
|
rs886060807
|
|
|
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
|
|
|
|
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
|
|
|
|
NM_002454.3(MTRR):c.1260C>G (p.Ala420=)
|
rs774102072
|
|
|
NM_002454.3(MTRR):c.1260C>T (p.Ala420=)
|
rs774102072
|
|
|
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
|
|
|
|
NM_002454.3(MTRR):c.129+10G>C
|
rs6413427
|
|
|
NM_002454.3(MTRR):c.129+11T>C
|
|
|
|
NM_002454.3(MTRR):c.129+12T>C
|
|
|
|
NM_002454.3(MTRR):c.129+13A>T
|
|
|
|
NM_002454.3(MTRR):c.129+14C>G
|
|
|
|
NM_002454.3(MTRR):c.129+15A>G
|
|
|
|
NM_002454.3(MTRR):c.129+20A>C
|
|
|
|
NM_002454.3(MTRR):c.129+7G>A
|
|
|
|
NM_002454.3(MTRR):c.129+9C>T
|
rs527869420
|
|
|
NM_002454.3(MTRR):c.1290T>C (p.Ala430=)
|
rs2126772061
|
|
|
NM_002454.3(MTRR):c.1293C>T (p.Phe431=)
|
rs766885971
|
|
|
NM_002454.3(MTRR):c.130-14T>C
|
|
|
|
NM_002454.3(MTRR):c.130-17A>T
|
|
|
|
NM_002454.3(MTRR):c.130-18G>A
|
|
|
|
NM_002454.3(MTRR):c.130-1G>A
|
|
|
|
NM_002454.3(MTRR):c.130-20T>G
|
|
|
|
NM_002454.3(MTRR):c.130-4G>A
|
rs201823283
|
|
|
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
|
|
|
|
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs)
|
rs2126772123
|
|
|
NM_002454.3(MTRR):c.1327+10C>G
|
rs757398819
|
|
|
NM_002454.3(MTRR):c.1327+10C>T
|
rs757398819
|
|
|
NM_002454.3(MTRR):c.1327+11G>A
|
|
|
|
NM_002454.3(MTRR):c.1327+19A>G
|
|
|
|
NM_002454.3(MTRR):c.1327+1G>A
|
|
|
|
NM_002454.3(MTRR):c.1327+20A>G
|
|
|
|
NM_002454.3(MTRR):c.1327+8G>A
|
|
|
|
NM_002454.3(MTRR):c.1328-12A>G
|
|
|
|
NM_002454.3(MTRR):c.1328-13T>A
|
|
|
|
NM_002454.3(MTRR):c.1328-13T>C
|
|
|
|
NM_002454.3(MTRR):c.1328-4C>G
|
rs747003266
|
|
|
NM_002454.3(MTRR):c.1328-4C>T
|
rs747003266
|
|
|
NM_002454.3(MTRR):c.1328-6T>G
|
|
|
|
NM_002454.3(MTRR):c.1328-7_1328-5del
|
rs779772153
|
|
|
NM_002454.3(MTRR):c.1328-8T>C
|
|
|
|
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
|
|
|
|
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
|
|
|
|
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
|
|
|
|
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter)
|
rs1440404360
|
|
|
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
|
|
|
|
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
|
|
|
|
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
|
|
|
|
NM_002454.3(MTRR):c.1368A>G (p.Ala456=)
|
rs2126785758
|
|
|
NM_002454.3(MTRR):c.1370+12T>C
|
|
|
|
NM_002454.3(MTRR):c.1370+12del
|
rs1444115346
|
|
|
NM_002454.3(MTRR):c.1370+20T>A
|
|
|
|
NM_002454.3(MTRR):c.1370+2TAC[3]
|
|
|
|
NM_002454.3(MTRR):c.1370+9A>G
|
rs2126785823
|
|
|
NM_002454.3(MTRR):c.1370+9del
|
|
|
|
NM_002454.3(MTRR):c.1371-11dup
|
|
|
|
NM_002454.3(MTRR):c.1371-17T>C
|
|
|
|
NM_002454.3(MTRR):c.1371-18G>A
|
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
|
NM_002454.3(MTRR):c.1371-4G>T
|
rs2126793044
|
|
|
NM_002454.3(MTRR):c.1371-8C>G
|
rs2126793017
|
|
|
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
|
|
|
|
NM_002454.3(MTRR):c.1386C>T (p.His462=)
|
|
|
|
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
|
|
|
|
NM_002454.3(MTRR):c.1395G>A (p.Lys465=)
|
rs2126793201
|
|
|
NM_002454.3(MTRR):c.1401T>G (p.His467Gln)
|
rs1737824362
|
|
|
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
|
|
|
|
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
|
|
|
|
NM_002454.3(MTRR):c.1425T>C (p.Phe475=)
|
rs1737829430
|
|
|
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
|
|
|
|
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)
|
rs1737830740
|
|
|
NM_002454.3(MTRR):c.1431T>G (p.Ser477=)
|
rs896702427
|
|
|
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
|
|
|
|
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
|
|
|
|
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)
|
rs2126793498
|
|
|
NM_002454.3(MTRR):c.1452G>A (p.Leu484=)
|
rs2126793535
|
|
|
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
|
|
|
|
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
|
|
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
|
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
|
|
|
|
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
|
|
|
|
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
|
|
|
|
NM_002454.3(MTRR):c.1476del (p.Trp492fs)
|
rs2126793645
|
|
|
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
|
|
|
|
NM_002454.3(MTRR):c.1482C>T (p.Ala494=)
|
rs1579792709
|
|
|
NM_002454.3(MTRR):c.1488G>A (p.Leu496=)
|
rs1158860588
|
|
|
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)
|
rs1737849963
|
|
|
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
|
|
|
|
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
|
|
|
|
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)
|
rs2126793764
|
|
|
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter)
|
rs1737852706
|
|
|
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
|
|
|
|
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
|
|
|
|
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
|
|
|
|
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
|
|
|
|
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
|
|
|
|
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
|
|
|
|
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
|
|
|
|
NM_002454.3(MTRR):c.1554T>C (p.Pro518=)
|
rs2126794116
|
|
|
NM_002454.3(MTRR):c.1557+10T>C
|
rs1414777712
|
|
|
NM_002454.3(MTRR):c.1557+16C>T
|
|
|
|
NM_002454.3(MTRR):c.1558-12G>A
|
|
|
|
NM_002454.3(MTRR):c.1558-13T>C
|
|
|
|
NM_002454.3(MTRR):c.1558-14A>G
|
|
|
|
NM_002454.3(MTRR):c.1558-15del
|
|
|
|
NM_002454.3(MTRR):c.1558-17T>C
|
|
|
|
NM_002454.3(MTRR):c.1558-6T>C
|
|
|
|
NM_002454.3(MTRR):c.1558-8T>C
|
rs2126807577
|
|
|
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
|
|
|
|
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
|
|
|
|
NM_002454.3(MTRR):c.1566C>A (p.Ile522=)
|
rs1579815027
|
|
|
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
|
|
|
|
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
|
|
|
|
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
|
|
|
|
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
|
|
|
|
NM_002454.3(MTRR):c.1590C>T (p.Phe530=)
|
rs2126807805
|
|
|
NM_002454.3(MTRR):c.1594T>C (p.Leu532=)
|
rs2126807843
|
|
|
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
|
|
|
|
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
|
|
|
|
NM_002454.3(MTRR):c.1599A>G (p.Pro533=)
|
rs2126807880
|
|
|
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
|
|
|
|
NM_002454.3(MTRR):c.15G>A (p.Leu5=)
|
rs2126643854
|
|
|
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
|
|
|
|
NM_002454.3(MTRR):c.1612dup (p.Ile538fs)
|
rs757800887
|
|
|
NM_002454.3(MTRR):c.1614C>T (p.Ile538=)
|
rs2126807956
|
|
|
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
|
|
|
|
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
|
|
|
|
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)
|
rs752471011
|
|
|
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
|
|
|
|
NM_002454.3(MTRR):c.162T>C (p.Val54=)
|
rs2126662749
|
|
|
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
|
|
|
|
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
|
|
|
|
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
|
|
|
|
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
|
|
|
|
NM_002454.3(MTRR):c.1650C>T (p.Ala550=)
|
rs2126808168
|
|
|
NM_002454.3(MTRR):c.1652dup (p.Phe552fs)
|
rs2126808162
|
|
|
NM_002454.3(MTRR):c.165T>C (p.Val55=)
|
|
|
|
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
|
|
|
|
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
|
|
|
|
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
|
|
|
|
NM_002454.3(MTRR):c.1674T>C (p.His558=)
|
|
|
|
NM_002454.3(MTRR):c.1676+15dup
|
|
|
|
NM_002454.3(MTRR):c.1676+7T>G
|
|
|
|
NM_002454.3(MTRR):c.1676+8C>T
|
|
|
|
NM_002454.3(MTRR):c.1677-11T>C
|
|
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
|
NM_002454.3(MTRR):c.1677-20C>T
|
|
|
|
NM_002454.3(MTRR):c.1677-4T>C
|
|
|
|
NM_002454.3(MTRR):c.1677-7dup
|
|
|
|
NM_002454.3(MTRR):c.1677-9del
|
rs746262908
|
|
|
NM_002454.3(MTRR):c.1677-9dup
|
rs746262908
|
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
|
NM_002454.3(MTRR):c.1680G>A (p.Glu560=)
|
rs2126812708
|
|
|
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
|
|
|
|
NM_002454.3(MTRR):c.1686C>T (p.Leu562=)
|
rs909879819
|
|
|
NM_002454.3(MTRR):c.1698C>T (p.His566=)
|
rs2126812807
|
|
|
NM_002454.3(MTRR):c.16T>C (p.Leu6=)
|
rs2126643873
|
|
|
NM_002454.3(MTRR):c.1704T>C (p.Asp568=)
|
rs2126812841
|
|
|
NM_002454.3(MTRR):c.1716A>C (p.Gly572=)
|
rs755255468
|
|
|
NM_002454.3(MTRR):c.171T>A (p.Val57=)
|
rs2126662820
|
|
|
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)
|
rs781416288
|
|
|
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
|
|
|
|
NM_002454.3(MTRR):c.1728del (p.Leu576fs)
|
rs2126812977
|
|
|
NM_002454.3(MTRR):c.1741A>C (p.Arg581=)
|
rs1738621244
|
|
|
NM_002454.3(MTRR):c.1749G>A (p.Lys583=)
|
rs1261248965
|
|
|
NM_002454.3(MTRR):c.1764A>C (p.Leu588=)
|
rs766927577
|
|
|
NM_002454.3(MTRR):c.1764A>T (p.Leu588=)
|
rs766927577
|
|
|
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
|
|
|
|
NM_002454.3(MTRR):c.1769+10A>T
|
rs1738630744
|
|
|
NM_002454.3(MTRR):c.1769+11A>G
|
|
|
|
NM_002454.3(MTRR):c.1769+15C>G
|
|
|
|
NM_002454.3(MTRR):c.1769+6G>A
|
|
|
|
NM_002454.3(MTRR):c.1769+9C>G
|
|
|
|
NM_002454.3(MTRR):c.1770-12A>G
|
|
|
|
NM_002454.3(MTRR):c.1770-14A>G
|
|
|
|
NM_002454.3(MTRR):c.1770-7A>G
|
rs2126813814
|
|
|
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
|
|
|
|
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
|
|
|
|
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
|
|
|
|
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
|
|
|
|
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
|
|
|
|
NM_002454.3(MTRR):c.1794G>A (p.Lys598=)
|
rs2126814001
|
|
|
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
|
|
|
|
NM_002454.3(MTRR):c.1803C>T (p.Ile601=)
|
rs1448214074
|
|
|
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
|
|
|
|
NM_002454.3(MTRR):c.1809T>C (p.Thr603=)
|
rs1390898831
|
|
|
NM_002454.3(MTRR):c.1815A>G (p.Leu605=)
|
rs2126814152
|
|
|
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)
|
rs939239779
|
|
|
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
|
|
|
|
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)
|
rs2126814266
|
|
|
NM_002454.3(MTRR):c.1839T>A (p.Ala613=)
|
rs2126814313
|
|
|
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
|
|
|
|
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
|
|
|
|
NM_002454.3(MTRR):c.1854G>A (p.Glu618=)
|
rs955857433
|
|
|
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
|
|
|
|
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
|
|
|
|
NM_002454.3(MTRR):c.186C>T (p.Thr62=)
|
rs940332374
|
|
|
NM_002454.3(MTRR):c.1875G>A (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.1875G>C (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
|
|
|
|
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
|
|
|
|
NM_002454.3(MTRR):c.1887C>A (p.Ile629=)
|
rs2126814585
|
|
|
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
|
|
|
|
NM_002454.3(MTRR):c.1893T>C (p.Leu631=)
|
rs114274194
|
|
|
NM_002454.3(MTRR):c.1902G>A (p.Gln634=)
|
rs945164864
|
|
|
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
|
|
|
|
NM_002454.3(MTRR):c.1912A>C (p.Arg638=)
|
rs2126814708
|
|
|
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
|
|
|
|
NM_002454.3(MTRR):c.1923C>G (p.Leu641=)
|
rs1738686385
|
|
|
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
|
|
|
|
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
|
|
|
|
NM_002454.3(MTRR):c.1929G>A (p.Glu643=)
|
rs1738688155
|
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
|
NM_002454.3(MTRR):c.1938T>C (p.His646=)
|
rs747850307
|
|
|
NM_002454.3(MTRR):c.1952+10T>A
|
|
|
|
NM_002454.3(MTRR):c.1952+10T>C
|
|
|
|
NM_002454.3(MTRR):c.1952+10_1952+12del
|
rs2126815094
|
|
|
NM_002454.3(MTRR):c.1952+11A>T
|
|
|
|
NM_002454.3(MTRR):c.1952+12_1952+16dup
|
|
|
|
NM_002454.3(MTRR):c.1952+13C>T
|
|
|
|
NM_002454.3(MTRR):c.1952+17C>A
|
|
|
|
NM_002454.3(MTRR):c.1952+20A>G
|
|
|
|
NM_002454.3(MTRR):c.1952+7C>T
|
|
|
|
NM_002454.3(MTRR):c.1953-14A>G
|
|
|
|
NM_002454.3(MTRR):c.1953-14_1953-12del
|
|
|
|
NM_002454.3(MTRR):c.1953-15T>C
|
|
|
|
NM_002454.3(MTRR):c.1953-16T>C
|
|
|
|
NM_002454.3(MTRR):c.1953-18T>C
|
|
|
|
NM_002454.3(MTRR):c.1953-19T>C
|
|
|
|
NM_002454.3(MTRR):c.1953-20C>T
|
|
|
|
NM_002454.3(MTRR):c.1953-4C>G
|
|
|
|
NM_002454.3(MTRR):c.1953-4C>T
|
|
|
|
NM_002454.3(MTRR):c.1953-9C>A
|
|
|
|
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
|
|
|
|
NM_002454.3(MTRR):c.1956T>C (p.Asp652=)
|
rs765283033
|
|
|
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
|
|
|
|
NM_002454.3(MTRR):c.195A>G (p.Pro65=)
|
rs1166869664
|
|
|
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
|
|
|
|
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)
|
rs1739209079
|
|
|
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
|
|
|
|
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
|
|
|
|
NM_002454.3(MTRR):c.1983T>C (p.His661=)
|
|
|
|
NM_002454.3(MTRR):c.1986T>C (p.Asp662=)
|
rs2126829225
|
|
|
NM_002454.3(MTRR):c.1989C>T (p.Ala663=)
|
rs2126829261
|
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
|
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
|
rs1747827267
|
|
|
NM_002454.3(MTRR):c.2001A>T (p.Ile667=)
|
rs1186554585
|
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
|
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)
|
rs775031794
|
|
|
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
|
|
|
|
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
|
|
|
|
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
|
|
|
|
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
|
|
|
|
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
|
|
|
|
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
|
|
|
|
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
|
|
|
|
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
|
|
|
|
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
|
|
|
|
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
|
|
|
|
NM_002454.3(MTRR):c.2088T>C (p.Ile696=)
|
rs2126829944
|
|
|
NM_002454.3(MTRR):c.2094A>G (p.Ser698=)
|
rs1249803440
|
|
|
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
|
|
|
|
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)
|
rs1748351304
|
|
|
NM_002454.3(MTRR):c.227del (p.Ile76fs)
|
|
|
|
NM_002454.3(MTRR):c.228dup (p.Gln77fs)
|
rs2126663415
|
|
|
NM_002454.3(MTRR):c.234C>T (p.Asn78=)
|
rs757746363
|
|
|
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
|
|
|
|
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
|
|
|
|
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
|
|
|
|
NM_002454.3(MTRR):c.246G>A (p.Pro82=)
|
rs149300444
|
|
|
NM_002454.3(MTRR):c.24T>C (p.Tyr8=)
|
rs1747831647
|
|
|
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
|
|
|
|
NM_002454.3(MTRR):c.261T>C (p.Ala87=)
|
rs138167806
|
|
|
NM_002454.3(MTRR):c.263del (p.His88fs)
|
|
|
|
NM_002454.3(MTRR):c.264C>T (p.His88=)
|
rs770540418
|
|
|
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
|
|
|
|
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
|
rs1579619636
|
|
|
NM_002454.3(MTRR):c.277T>C (p.Leu93=)
|
rs1318273666
|
|
|
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
|
|
|
|
NM_002454.3(MTRR):c.283+13C>T
|
|
|
|
NM_002454.3(MTRR):c.283+15C>G
|
|
|
|
NM_002454.3(MTRR):c.283+1G>A
|
|
|
|
NM_002454.3(MTRR):c.283+1_283+20del
|
rs1748371268
|
|
|
NM_002454.3(MTRR):c.283+9C>T
|
rs2126663981
|
|
|
NM_002454.3(MTRR):c.283+9CT[3]
|
rs1341998318
|
|
|
NM_002454.3(MTRR):c.284-17G>A
|
|
|
|
NM_002454.3(MTRR):c.284-17del
|
|
|
|
NM_002454.3(MTRR):c.284-18T>C
|
|
|
|
NM_002454.3(MTRR):c.284-5T>G
|
|
|
|
NM_002454.3(MTRR):c.284-6C>T
|
|
|
|
NM_002454.3(MTRR):c.288C>G (p.Leu96=)
|
rs35587995
|
|
|
NM_002454.3(MTRR):c.290del (p.Gly97fs)
|
|
|
|
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
|
|
|
|
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
|
|
|
|
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
|
|
|
|
NM_002454.3(MTRR):c.312T>C (p.Phe104=)
|
rs1044244393
|
|
|
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
|
|
|
|
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
|
|
|
|
NM_002454.3(MTRR):c.324del (p.Lys109fs)
|
rs1189298981
|
|
|
NM_002454.3(MTRR):c.333T>C (p.Ile111=)
|
rs2126675587
|
|
|
NM_002454.3(MTRR):c.340del (p.Arg114fs)
|
rs2126675629
|
|
|
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
|
|
|
|
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
|
|
|
|
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
|
|
|
|
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)
|
rs2126675683
|
|
|
NM_002454.3(MTRR):c.354T>G (p.Leu118=)
|
rs1465852233
|
|
|
NM_002454.3(MTRR):c.354_358del (p.Gly119fs)
|
rs2126675707
|
|
|
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
|
|
|
|
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
|
|
|
|
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
|
|
|
|
NM_002454.3(MTRR):c.375C>T (p.Asp125=)
|
rs757292247
|
|
|
NM_002454.3(MTRR):c.381A>G (p.Gly127=)
|
rs771642983
|
|
|
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
|
|
|
|
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
|
|
|
|
NM_002454.3(MTRR):c.397G>C (p.Val133Leu)
|
rs770923981
|
|
|
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
|
|
|
|
NM_002454.3(MTRR):c.401+12_401+13del
|
|
|
|
NM_002454.3(MTRR):c.401+14T>A
|
|
|
|
NM_002454.3(MTRR):c.401+17C>G
|
|
|
|
NM_002454.3(MTRR):c.401+17C>T
|
|
|
|
NM_002454.3(MTRR):c.401+2_401+7del
|
rs2126676051
|
|
|
NM_002454.3(MTRR):c.402-18T>C
|
|
|
|
NM_002454.3(MTRR):c.402-1G>C
|
|
|
|
NM_002454.3(MTRR):c.402-1G>T
|
rs1734858651
|
|
|
NM_002454.3(MTRR):c.402-2A>G
|
rs2126692827
|
|
|
NM_002454.3(MTRR):c.402-6G>T
|
rs2126692815
|
|
|
NM_002454.3(MTRR):c.402-6del
|
|
|
|
NM_002454.3(MTRR):c.414G>A (p.Val138=)
|
|
|
|
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
|
|
|
|
NM_002454.3(MTRR):c.423G>C (p.Pro141=)
|
rs753947379
|
|
|
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
|
|
|
|
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
|
|
|
|
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
|
|
|
|
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
|
|
|
|
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)
|
rs2126693065
|
|
|
NM_002454.3(MTRR):c.456G>A (p.Lys152=)
|
rs1734864252
|
|
|
NM_002454.3(MTRR):c.462T>C (p.Phe154=)
|
rs2126693127
|
|
|
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
|
|
|
|
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
|
|
|
|
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
|
|
|
|
NM_002454.3(MTRR):c.477A>C (p.Gly159=)
|
rs1270504511
|
|
|
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
|
|
|
|
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
|
|
|
|
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
|
|
|
|
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
|
|
|
|
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
|
|
|
|
NM_002454.3(MTRR):c.507G>T (p.Val169=)
|
rs367609729
|
|
|
NM_002454.3(MTRR):c.516T>C (p.Pro172=)
|
rs1579656831
|
|
|
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
|
|
|
|
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
|
|
|
|
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
|
|
|
|
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
|
|
|
|
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
|
|
|
|
NM_002454.3(MTRR):c.534C>T (p.Asp178=)
|
rs1417585228
|
|
|
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
|
|
|
|
NM_002454.3(MTRR):c.558C>T (p.His186=)
|
|
|
|
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
|
|
|
|
NM_002454.3(MTRR):c.573C>G (p.Val191=)
|
rs777364593
|
|
|
NM_002454.3(MTRR):c.573C>T (p.Val191=)
|
rs777364593
|
|
|
NM_002454.3(MTRR):c.579T>C (p.Leu193=)
|
rs2126694174
|
|
|
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
|
|
|
|
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
|
|
|
|
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)
|
rs748186027
|
|
|
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
|
|
|
|
NM_002454.3(MTRR):c.606G>A (p.Lys202=)
|
rs368030155
|
|
|
NM_002454.3(MTRR):c.612T>G (p.Ser204=)
|
rs374670570
|
|
|
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
|
|
|
|
NM_002454.3(MTRR):c.630T>C (p.Asn210=)
|
rs2126694596
|
|
|
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
|
|
|
|
NM_002454.3(MTRR):c.636G>A (p.Val212=)
|
rs368140804
|
|
|
NM_002454.3(MTRR):c.636G>C (p.Val212=)
|
|
|
|
NM_002454.3(MTRR):c.645C>T (p.Asn215=)
|
rs1734907656
|
|
|
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
|
|
|
|
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
|
|
|
|
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
|
|
|
|
NM_002454.3(MTRR):c.654T>C (p.Asn218=)
|
rs770060665
|
|
|
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
|
|
|
|
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
|
|
|
|
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
|
|
|
|
NM_002454.3(MTRR):c.681A>G (p.Ser227=)
|
rs749515067
|
|
|
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
|
|
|
|
NM_002454.3(MTRR):c.693G>C (p.Ser231=)
|
rs775348918
|
|
|
NM_002454.3(MTRR):c.6G>A (p.Arg2=)
|
rs560321328
|
|
|
NM_002454.3(MTRR):c.702A>C (p.Pro234=)
|
rs961373750
|
|
|
NM_002454.3(MTRR):c.702A>G (p.Pro234=)
|
rs961373750
|
|
|
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)
|
rs371860776
|
|
|
NM_002454.3(MTRR):c.718_719del (p.Leu240fs)
|
rs1207820860
|
|
|
NM_002454.3(MTRR):c.734del (p.Leu245fs)
|
rs1734927527
|
|
|
NM_002454.3(MTRR):c.735A>G (p.Leu245=)
|
rs1343821146
|
|
|
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
|
|
|
|
NM_002454.3(MTRR):c.740del (p.Pro247fs)
|
rs752858024
|
|
|
NM_002454.3(MTRR):c.741del (p.Glu248fs)
|
rs1734931275
|
|
|
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
|
|
|
|
NM_002454.3(MTRR):c.754del (p.Val252fs)
|
|
|
|
NM_002454.3(MTRR):c.75A>G (p.Gln25=)
|
rs1553999358
|
|
|
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
|
|
|
|
NM_002454.3(MTRR):c.780+17T>C
|
|
|
|
NM_002454.3(MTRR):c.780+17T>G
|
|
|
|
NM_002454.3(MTRR):c.780+19A>G
|
|
|
|
NM_002454.3(MTRR):c.780+19del
|
|
|
|
NM_002454.3(MTRR):c.780+8A>G
|
rs1283751633
|
|
|
NM_002454.3(MTRR):c.781-2A>C
|
|
|
|
NM_002454.3(MTRR):c.781-4C>T
|
rs1057521905
|
|
|
NM_002454.3(MTRR):c.781-5T>G
|
rs2126727387
|
|
|
NM_002454.3(MTRR):c.781-6T>C
|
|
|
|
NM_002454.3(MTRR):c.781-8T>C
|
|
|
|
NM_002454.3(MTRR):c.789C>T (p.Ser263=)
|
rs577950573
|
|
|
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
|
|
|
|
NM_002454.3(MTRR):c.815del (p.Pro272fs)
|
rs2126727585
|
|
|
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
|
|
|
|
NM_002454.3(MTRR):c.81G>A (p.Val27=)
|
rs1361273528
|
|
|
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
|
|
|
|
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
|
|
|
|
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
|
|
|
|
NM_002454.3(MTRR):c.849A>G (p.Gln283=)
|
rs1464577162
|
|
|
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
|
|
|
|
NM_002454.3(MTRR):c.858G>A (p.Thr286=)
|
rs762745815
|
|
|
NM_002454.3(MTRR):c.858G>C (p.Thr286=)
|
rs762745815
|
|
|
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
|
|
|
|
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)
|
rs750009895
|
|
|
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
|
|
|
|
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)
|
rs776031136
|
|
|
NM_002454.3(MTRR):c.867C>G (p.Ala289=)
|
rs1579702611
|
|
|
NM_002454.3(MTRR):c.867C>T (p.Ala289=)
|
rs1579702611
|
|
|
NM_002454.3(MTRR):c.873A>G (p.Lys291=)
|
rs2126727889
|
|
|
NM_002454.3(MTRR):c.87T>C (p.His29=)
|
rs1212726848
|
|
|
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
|
|
|
|
NM_002454.3(MTRR):c.892T>C (p.Leu298=)
|
rs758638445
|
|
|
NM_002454.3(MTRR):c.901del (p.Ser301fs)
|
|
|
|
NM_002454.3(MTRR):c.903+11A>G
|
|
|
|
NM_002454.3(MTRR):c.903+15T>G
|
|
|
|
NM_002454.3(MTRR):c.903+17_903+20del
|
|
|
|
NM_002454.3(MTRR):c.903+7T>C
|
|
|
|
NM_002454.3(MTRR):c.903+9C>T
|
|
|
|
NM_002454.3(MTRR):c.904-10T>C
|
|
|
|
NM_002454.3(MTRR):c.904-12G>T
|
|
|
|
NM_002454.3(MTRR):c.904-16T>C
|
|
|
|
NM_002454.3(MTRR):c.904-18A>G
|
|
|
|
NM_002454.3(MTRR):c.904-19C>T
|
|
|
|
NM_002454.3(MTRR):c.904-1G>T
|
|
|
|
NM_002454.3(MTRR):c.904-20T>C
|
|
|
|
NM_002454.3(MTRR):c.904-20_904-19insTC
|
rs1554003809
|
|
|
NM_002454.3(MTRR):c.904-20_904-19insTTC
|
rs1554003809
|
|
|
NM_002454.3(MTRR):c.904-2A>G
|
|
|
|
NM_002454.3(MTRR):c.904-3dup
|
rs764339809
|
|
|
NM_002454.3(MTRR):c.904-4C>A
|
|
|
|
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
|
|
|
|
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
|
|
|
|
NM_002454.3(MTRR):c.909A>G (p.Thr303=)
|
rs747851597
|
|
|
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
|
|
|
|
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
|
|
|
|
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
|
|
|
|
NM_002454.3(MTRR):c.930A>C (p.Gly310=)
|
rs2126744786
|
|
|
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
|
|
|
|
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
|
|
|
|
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
|
|
|
|
NM_002454.3(MTRR):c.936C>G (p.Ala312=)
|
rs777075473
|
|
|
NM_002454.3(MTRR):c.939C>T (p.Phe313=)
|
rs1475861942
|
|
|
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
|
|
|
|
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)
|
rs2126745024
|
|
|
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
|
|
|
|
NM_002454.3(MTRR):c.957C>T (p.Asn319=)
|
rs2126745060
|
|
|
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
|
|
|
|
NM_002454.3(MTRR):c.972A>C (p.Val324=)
|
|
|
|
NM_002454.3(MTRR):c.973_1146+462del
|
|
|
|
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)
|
rs2126745139
|
|
|
NM_002454.3(MTRR):c.979C>T (p.Leu327=)
|
rs2126745164
|
|
|
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
|
|
|
|
NM_002454.3(MTRR):c.984C>G (p.Leu328=)
|
rs752543039
|
|
|
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
|
|
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
|
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)
|
rs10064631
|
|
|
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
|
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
|
NM_002860.4(ALDH18A1):c.1001A>G (p.Lys334Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1005G>A (p.Val335=)
|
|
|
|
NM_002860.4(ALDH18A1):c.100C>G (p.Pro34Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.1015G>A (p.Val339Ile)
|
rs1346763871
|
|
|
NM_002860.4(ALDH18A1):c.1032_1033delinsTC (p.Glu345Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1042A>G (p.Lys348Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1046T>G (p.Val349Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1047T>G (p.Val349=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1048G>T (p.Gly350Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1071G>A (p.Lys357=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1073C>T (p.Pro358Leu)
|
rs868590536
|
|
|
NM_002860.4(ALDH18A1):c.1076C>T (p.Ala359Val)
|
rs933310637
|
|
|
NM_002860.4(ALDH18A1):c.1078+12_1078+14del
|
|
|
|
NM_002860.4(ALDH18A1):c.1078+20G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1078+4A>G
|
rs1566018543
|
|
|
NM_002860.4(ALDH18A1):c.1078+5A>G
|
rs2139591190
|
|
|
NM_002860.4(ALDH18A1):c.1078+6T>C
|
rs919353563
|
|
|
NM_002860.4(ALDH18A1):c.1079-11T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1079-16G>T
|
|
|
|
NM_002860.4(ALDH18A1):c.1104A>G (p.Glu368=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1106T>C (p.Met369Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1112G>C (p.Arg371Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1112G>T (p.Arg371Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.111C>G (p.Ile37Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1126A>T (p.Met376Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1137C>G (p.Thr379=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1144C>T (p.Pro382Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1150C>G (p.Gln384Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1151A>G (p.Gln384Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+1G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1152+6A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-11C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-6T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1153-8_1153-5del
|
|
|
|
NM_002860.4(ALDH18A1):c.1172A>T (p.His391Leu)
|
rs774081826
|
|
|
NM_002860.4(ALDH18A1):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1180G>A (p.Asp394Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1191G>A (p.Thr397=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1199G>A (p.Arg400His)
|
rs1283928441
|
|
|
NM_002860.4(ALDH18A1):c.11A>G (p.Gln4Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.121C>G (p.Arg41Gly)
|
rs370450551
|
|
|
NM_002860.4(ALDH18A1):c.121C>T (p.Arg41Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1236G>C (p.Glu412Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.1246+15A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1247-16C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1247-17T>A
|
rs1208309079
|
|
|
NM_002860.4(ALDH18A1):c.1253T>C (p.Leu418Pro)
|
rs201069261
|
|
|
NM_002860.4(ALDH18A1):c.1267C>A (p.Leu423Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1275T>C (p.Arg425=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1280G>A (p.Ser427Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1290A>C (p.Thr430=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1292C>A (p.Ser431Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1312A>G (p.Ile438Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)
|
rs145289559
|
|
|
NM_002860.4(ALDH18A1):c.1322G>A (p.Arg441Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1330G>A (p.Ala444Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1350C>T (p.Ser450=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1357C>T (p.Arg453Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.135C>A (p.Asn45Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1369C>T (p.Arg457Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1370G>A (p.Arg457His)
|
rs570730665
|
|
|
NM_002860.4(ALDH18A1):c.1370G>T (p.Arg457Leu)
|
rs570730665
|
|
|
NM_002860.4(ALDH18A1):c.1371C>T (p.Arg457=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1380C>A (p.Ile460=)
|
rs770247123
|
|
|
NM_002860.4(ALDH18A1):c.1385A>G (p.Lys462Arg)
|
rs886047511
|
|
|
NM_002860.4(ALDH18A1):c.1393G>C (p.Glu465Gln)
|
rs757876226
|
|
|
NM_002860.4(ALDH18A1):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1411G>A (p.Val471Ile)
|
rs778369085
|
|
|
NM_002860.4(ALDH18A1):c.1411G>T (p.Val471Phe)
|
rs778369085
|
|
|
NM_002860.4(ALDH18A1):c.141G>A (p.Pro47=)
|
|
|
|
NM_002860.4(ALDH18A1):c.141G>T (p.Pro47=)
|
rs748824728
|
|
|
NM_002860.4(ALDH18A1):c.1447C>T (p.Arg483Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1463C>T (p.Pro488Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1468-2A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=)
|
rs1374293487
|
|
|
NM_002860.4(ALDH18A1):c.1474G>A (p.Ala492Thr)
|
rs2139552444
|
|
|
NM_002860.4(ALDH18A1):c.1474G>C (p.Ala492Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1492G>A (p.Gly498Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1503G>A (p.Leu501=)
|
rs77717600
|
|
|
NM_002860.4(ALDH18A1):c.1506A>G (p.Leu502=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1514G>A (p.Gly505Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1517G>T (p.Gly506Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1524G>A (p.Glu508=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1541G>A (p.Arg514Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.1549C>T (p.His517Tyr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1551C>A (p.His517Gln)
|
rs185313265
|
|
|
NM_002860.4(ALDH18A1):c.1551C>T (p.His517=)
|
|
|
|
NM_002860.4(ALDH18A1):c.155C>T (p.Pro52Leu)
|
rs140745368
|
|
|
NM_002860.4(ALDH18A1):c.1564_1565delinsTT (p.Glu522Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1567G>C (p.Ala523Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.1567G>T (p.Ala523Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1576A>G (p.Ile526Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.157C>G (p.Leu53Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1605+11G>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1605+16T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-15T>C
|
rs2139542064
|
|
|
NM_002860.4(ALDH18A1):c.1606-18del
|
rs532582192
|
|
|
NM_002860.4(ALDH18A1):c.1606-19_1606-15del
|
|
|
|
NM_002860.4(ALDH18A1):c.1606-7T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1617A>C (p.Arg539Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1624G>A (p.Val542Ile)
|
rs552325165
|
|
|
NM_002860.4(ALDH18A1):c.163C>T (p.Arg55Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1640G>A (p.Arg547His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1653G>T (p.Met551Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.1655T>C (p.Ile552Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1664T>A (p.Ile555Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.1672C>G (p.Arg558Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1673G>A (p.Arg558His)
|
|
|
|
NM_002860.4(ALDH18A1):c.1685A>G (p.Gln562Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1690G>A (p.Val564Ile)
|
rs2097840471
|
|
|
NM_002860.4(ALDH18A1):c.1691T>C (p.Val564Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.1703A>T (p.Gln568Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.1729A>G (p.Met577Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1737C>T (p.His579=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg)
|
rs139035272
|
|
|
NM_002860.4(ALDH18A1):c.1740C>T (p.Ser580=)
|
rs139035272
|
|
|
NM_002860.4(ALDH18A1):c.1777A>G (p.Ser593Gly)
|
rs1231068982
|
|
|
NM_002860.4(ALDH18A1):c.1778G>C (p.Ser593Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.1780G>A (p.Val594Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.1784A>T (p.Asp595Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.1788G>T (p.Lys596Asn)
|
rs764910330
|
|
|
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1798C>G (p.Leu600Val)
|
rs1755139847
|
|
|
NM_002860.4(ALDH18A1):c.1801+10A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>A
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-20C>G
|
|
|
|
NM_002860.4(ALDH18A1):c.1802-21_1802-17del
|
|
|
|
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.1864C>G (p.Arg622Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.1894C>A (p.Gln632Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.190C>T (p.Arg64Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.1915G>A (p.Val639Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.1923+13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.1924-11del
|
|
|
|
NM_002860.4(ALDH18A1):c.1924G>C (p.Val642Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.1936G>C (p.Ala646Pro)
|
rs2097834259
|
|
|
NM_002860.4(ALDH18A1):c.1940G>A (p.Gly647Asp)
|
rs2139530815
|
|
|
NM_002860.4(ALDH18A1):c.1956C>T (p.Ser652=)
|
|
|
|
NM_002860.4(ALDH18A1):c.1958A>C (p.Tyr653Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.1985A>G (p.Lys662Arg)
|
rs1250411325
|
|
|
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
|
|
|
|
NM_002860.4(ALDH18A1):c.19C>T (p.Arg7Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.2007G>A (p.Gly669=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
|
NM_002860.4(ALDH18A1):c.2028A>G (p.Glu676=)
|
rs1327684346
|
|
|
NM_002860.4(ALDH18A1):c.2032G>A (p.Val678Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.2039A>G (p.Asn680Ser)
|
rs2139530277
|
|
|
NM_002860.4(ALDH18A1):c.2041G>T (p.Val681Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.204G>C (p.Lys68Asn)
|
rs768807587
|
|
|
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.2054T>C (p.Ile685Thr)
|
rs2139530175
|
|
|
NM_002860.4(ALDH18A1):c.2064C>T (p.Ile688=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2067C>G (p.His689Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.2078G>C (p.Ser693Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2081C>T (p.Ser694Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.2085C>T (p.His695=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2088G>A (p.Thr696=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2097C>T (p.Ile699=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2098G>T (p.Val700Phe)
|
rs375705932
|
|
|
NM_002860.4(ALDH18A1):c.20G>A (p.Arg7His)
|
|
|
|
NM_002860.4(ALDH18A1):c.20G>C (p.Arg7Pro)
|
rs753553298
|
|
|
NM_002860.4(ALDH18A1):c.2110+10C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-12_2111-10del
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-14T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-5T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.2111-7C>A
|
rs542177817
|
|
|
NM_002860.4(ALDH18A1):c.2114A>G (p.Asn705Ser)
|
rs1325485951
|
|
|
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.2135A>G (p.Gln712Arg)
|
rs2097831329
|
|
|
NM_002860.4(ALDH18A1):c.2139C>T (p.His713=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2148T>C (p.Ser716=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2149G>A (p.Ala717Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2195G>A (p.Arg732His)
|
rs774916138
|
|
|
NM_002860.4(ALDH18A1):c.2201G>A (p.Gly734Glu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2207-14A>T
|
|
|
|
NM_002860.4(ALDH18A1):c.2207-7_2207-6inv
|
|
|
|
NM_002860.4(ALDH18A1):c.220G>A (p.Val74Met)
|
|
|
|
NM_002860.4(ALDH18A1):c.220G>T (p.Val74Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2225G>T (p.Ser742Ile)
|
rs765567477
|
|
|
NM_002860.4(ALDH18A1):c.2230T>A (p.Ser744Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp)
|
rs762271422
|
|
|
NM_002860.4(ALDH18A1):c.2231C>T (p.Ser744Leu)
|
rs762271422
|
|
|
NM_002860.4(ALDH18A1):c.2232G>C (p.Ser744=)
|
rs148601288
|
|
|
NM_002860.4(ALDH18A1):c.223G>T (p.Val75Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.2241C>T (p.His747=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2257G>A (p.Gly753Arg)
|
rs2139513759
|
|
|
NM_002860.4(ALDH18A1):c.2260C>T (p.Leu754Phe)
|
rs2139513721
|
|
|
NM_002860.4(ALDH18A1):c.2270T>G (p.Leu757Arg)
|
rs2139513699
|
|
|
NM_002860.4(ALDH18A1):c.2277T>C (p.Thr759=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2278A>G (p.Thr760Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.2279C>T (p.Thr760Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.227A>G (p.Lys76Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.22T>C (p.Cys8Arg)
|
rs2139670118
|
|
|
NM_002860.4(ALDH18A1):c.2307C>T (p.His769=)
|
|
|
|
NM_002860.4(ALDH18A1):c.2329C>A (p.His777Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.2329C>T (p.His777Tyr)
|
rs553385013
|
|
|
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.2339T>C (p.Leu780Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser)
|
rs774047299
|
|
|
NM_002860.4(ALDH18A1):c.2353G>A (p.Glu785Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.2370T>G (p.Pro790=)
|
|
|
|
NM_002860.4(ALDH18A1):c.251G>C (p.Arg84Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.255G>T (p.Gly85=)
|
|
|
|
NM_002860.4(ALDH18A1):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.259G>A (p.Glu87Lys)
|
|
|
|
NM_002860.4(ALDH18A1):c.264T>C (p.Cys88=)
|
rs537733180
|
|
|
NM_002860.4(ALDH18A1):c.265G>A (p.Gly89Ser)
|
rs1085307589
|
|
|
NM_002860.4(ALDH18A1):c.26G>T (p.Gly9Val)
|
rs2139670109
|
|
|
NM_002860.4(ALDH18A1):c.279G>A (p.Gly93=)
|
|
|
|
NM_002860.4(ALDH18A1):c.280C>T (p.Arg94Cys)
|
rs2139642020
|
|
|
NM_002860.4(ALDH18A1):c.281G>A (p.Arg94His)
|
|
|
|
NM_002860.4(ALDH18A1):c.293T>C (p.Ile98Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.295G>A (p.Val99Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.299A>C (p.Glu100Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.303+10A>T
|
|
|
|
NM_002860.4(ALDH18A1):c.303+12G>A
|
|
|
|
NM_002860.4(ALDH18A1):c.303+15A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.303+4_303+7dup
|
rs772902503
|
|
|
NM_002860.4(ALDH18A1):c.304-3del
|
|
|
|
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.33G>C (p.Gln11His)
|
rs2097913334
|
|
|
NM_002860.4(ALDH18A1):c.34C>G (p.Pro12Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.357C>G (p.Ala119=)
|
rs767594147
|
|
|
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)
|
rs863224945
|
|
|
NM_002860.4(ALDH18A1):c.366T>C (p.Phe122=)
|
rs2139622090
|
|
|
NM_002860.4(ALDH18A1):c.371A>G (p.Lys124Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.382C>T (p.Arg128Cys)
|
|
|
|
NM_002860.4(ALDH18A1):c.407G>A (p.Ser136Asn)
|
|
|
|
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
|
|
|
|
NM_002860.4(ALDH18A1):c.40A>G (p.Asn14Asp)
|
|
|
|
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)
|
rs863225045
|
|
|
NM_002860.4(ALDH18A1):c.428C>T (p.Ser143Leu)
|
rs1302919102
|
|
|
NM_002860.4(ALDH18A1):c.42C>T (p.Asn14=)
|
|
|
|
NM_002860.4(ALDH18A1):c.469G>C (p.Glu157Gln)
|
|
|
|
NM_002860.4(ALDH18A1):c.475C>A (p.Arg159=)
|
|
|
|
NM_002860.4(ALDH18A1):c.49C>A (p.Leu17Ile)
|
rs2139670010
|
|
|
NM_002860.4(ALDH18A1):c.522G>A (p.Glu174=)
|
rs1240158166
|
|
|
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
|
|
|
|
NM_002860.4(ALDH18A1):c.553_554delinsTT (p.Ala185Phe)
|
|
|
|
NM_002860.4(ALDH18A1):c.555C>G (p.Ala185=)
|
|
|
|
NM_002860.4(ALDH18A1):c.558+18G>T
|
rs2139620979
|
|
|
NM_002860.4(ALDH18A1):c.559-12T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.565G>C (p.Val189Leu)
|
|
|
|
NM_002860.4(ALDH18A1):c.572A>C (p.Asn191Thr)
|
rs747052164
|
|
|
NM_002860.4(ALDH18A1):c.601C>T (p.Arg201Trp)
|
|
|
|
NM_002860.4(ALDH18A1):c.642C>T (p.Asn214=)
|
rs1589534526
|
|
|
NM_002860.4(ALDH18A1):c.648C>A (p.Val216=)
|
|
|
|
NM_002860.4(ALDH18A1):c.678C>A (p.Val226=)
|
|
|
|
NM_002860.4(ALDH18A1):c.687T>C (p.Ala229=)
|
|
|
|
NM_002860.4(ALDH18A1):c.695A>G (p.Asn232Ser)
|
|
|
|
NM_002860.4(ALDH18A1):c.709G>T (p.Gly237Trp)
|
rs201841420
|
|
|
NM_002860.4(ALDH18A1):c.714A>G (p.Val238=)
|
|
|
|
NM_002860.4(ALDH18A1):c.715A>G (p.Asn239Asp)
|
rs2139609482
|
|
|
NM_002860.4(ALDH18A1):c.717+13T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.717+9A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.718-20C>T
|
rs1488774481
|
|
|
NM_002860.4(ALDH18A1):c.718-3T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.718-7A>C
|
rs1230591674
|
|
|
NM_002860.4(ALDH18A1):c.718G>C (p.Val240Leu)
|
rs2139608040
|
|
|
NM_002860.4(ALDH18A1):c.731A>G (p.Lys244Arg)
|
rs2139607977
|
|
|
NM_002860.4(ALDH18A1):c.732_737del (p.Lys244_Asp245del)
|
|
|
|
NM_002860.4(ALDH18A1):c.73A>G (p.Thr25Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)
|
rs1555262375
|
|
|
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn)
|
rs2097873418
|
|
|
NM_002860.4(ALDH18A1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.754C>G (p.Arg252Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)
|
rs864321670
|
|
|
NM_002860.4(ALDH18A1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.782T>C (p.Leu261Pro)
|
|
|
|
NM_002860.4(ALDH18A1):c.808+3A>G
|
|
|
|
NM_002860.4(ALDH18A1):c.809-15_809-14del
|
|
|
|
NM_002860.4(ALDH18A1):c.809-18C>T
|
rs778442273
|
|
|
NM_002860.4(ALDH18A1):c.809-1G>A
|
rs1202802893
|
|
|
NM_002860.4(ALDH18A1):c.809-8T>C
|
rs1405015772
|
|
|
NM_002860.4(ALDH18A1):c.819C>T (p.Asp273=)
|
rs752470665
|
|
|
NM_002860.4(ALDH18A1):c.826C>T (p.Pro276Ser)
|
rs372092118
|
|
|
NM_002860.4(ALDH18A1):c.836A>G (p.Asp279Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.839A>G (p.Asp280Gly)
|
|
|
|
NM_002860.4(ALDH18A1):c.856A>G (p.Ile286Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.867C>T (p.Pro289=)
|
|
|
|
NM_002860.4(ALDH18A1):c.87T>G (p.Ser29=)
|
rs2097913253
|
|
|
NM_002860.4(ALDH18A1):c.88+13G>C
|
|
|
|
NM_002860.4(ALDH18A1):c.887C>A (p.Thr296Lys)
|
rs768985400
|
|
|
NM_002860.4(ALDH18A1):c.89-3C>T
|
|
|
|
NM_002860.4(ALDH18A1):c.89-6C>G
|
rs2097895286
|
|
|
NM_002860.4(ALDH18A1):c.89-9T>C
|
|
|
|
NM_002860.4(ALDH18A1):c.917G>T (p.Gly306Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.928_929delinsAT (p.Ala310Ile)
|
|
|
|
NM_002860.4(ALDH18A1):c.933+19_933+20insAAGAATCTGGTGCCTTACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_002860.4(ALDH18A1):c.933+1G>A
|
rs2139593958
|
|
|
NM_002860.4(ALDH18A1):c.933+6A>C
|
|
|
|
NM_002860.4(ALDH18A1):c.945C>A (p.Ala315=)
|
|
|
|
NM_002860.4(ALDH18A1):c.945C>T (p.Ala315=)
|
rs566528582
|
|
|
NM_002860.4(ALDH18A1):c.946C>G (p.Leu316Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.95T>C (p.Ile32Thr)
|
|
|
|
NM_002860.4(ALDH18A1):c.965G>T (p.Gly322Val)
|
|
|
|
NM_002860.4(ALDH18A1):c.967A>G (p.Thr323Ala)
|
|
|
|
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe)
|
rs192770256
|
|
|
NM_002860.4(ALDH18A1):c.973GTT[1] (p.Val326del)
|
|
|
|
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr)
|
rs749240316
|
|
|
NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro)
|
rs749240316
|
|
|
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser)
|
rs749240316
|
|
|
NM_003042.4(SLC6A1):c.1004dup (p.Phe336fs)
|
rs2124926277
|
|
|
NM_003042.4(SLC6A1):c.1009G>A (p.Val337Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1013T>A (p.Ile338Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.1024G>A (p.Val342Met)
|
rs760836450
|
|
|
NM_003042.4(SLC6A1):c.1033A>G (p.Met345Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1034T>C (p.Met345Thr)
|
rs1697627975
|
|
|
NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)
|
|
|
|
NM_003042.4(SLC6A1):c.1050G>A (p.Lys350=)
|
|
|
|
NM_003042.4(SLC6A1):c.1050G>C (p.Lys350Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.1066G>A (p.Val356Met)
|
rs1697630365
|
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
|
NM_003042.4(SLC6A1):c.1077A>G (p.Ser359=)
|
|
|
|
NM_003042.4(SLC6A1):c.1078+4A>G
|
|
|
|
NM_003042.4(SLC6A1):c.1079-12T>G
|
|
|
|
NM_003042.4(SLC6A1):c.1079-15C>T
|
|
|
|
NM_003042.4(SLC6A1):c.1079-6G>A
|
rs779733732
|
|
|
NM_003042.4(SLC6A1):c.1080C>T (p.Gly360=)
|
rs1697747513
|
|
|
NM_003042.4(SLC6A1):c.1081C>T (p.Pro361Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
|
NM_003042.4(SLC6A1):c.1091C>T (p.Ala364Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1092G>C (p.Ala364=)
|
rs199998696
|
|
|
NM_003042.4(SLC6A1):c.1096C>A (p.Leu366Met)
|
|
|
|
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr)
|
rs1697748409
|
|
|
NM_003042.4(SLC6A1):c.109_110delinsGC (p.Lys37Ala)
|
rs1697191777
|
|
|
NM_003042.4(SLC6A1):c.1106C>T (p.Pro369Leu)
|
rs2124930745
|
|
|
NM_003042.4(SLC6A1):c.1112C>T (p.Ala371Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1113G>A (p.Ala371=)
|
|
|
|
NM_003042.4(SLC6A1):c.1131C>A (p.Ile377=)
|
|
|
|
NM_003042.4(SLC6A1):c.1140C>T (p.Leu380=)
|
|
|
|
NM_003042.4(SLC6A1):c.1147A>G (p.Ile383Val)
|
rs1697751144
|
|
|
NM_003042.4(SLC6A1):c.114G>C (p.Ala38=)
|
rs139224269
|
|
|
NM_003042.4(SLC6A1):c.1150C>G (p.Leu384Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1152C>T (p.Leu384=)
|
rs759942621
|
|
|
NM_003042.4(SLC6A1):c.1157T>C (p.Phe386Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.1159_1161del (p.Ser387del)
|
|
|
|
NM_003042.4(SLC6A1):c.1178G>A (p.Gly393Asp)
|
rs2124930941
|
|
|
NM_003042.4(SLC6A1):c.1187G>A (p.Ser396Asn)
|
rs2124930953
|
|
|
NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.1191+10C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1191+11C>G
|
|
|
|
NM_003042.4(SLC6A1):c.1191+13C>A
|
rs780177003
|
|
|
NM_003042.4(SLC6A1):c.1191+13C>T
|
rs780177003
|
|
|
NM_003042.4(SLC6A1):c.1191+15C>A
|
rs781558890
|
|
|
NM_003042.4(SLC6A1):c.1191+15C>G
|
rs781558890
|
|
|
NM_003042.4(SLC6A1):c.1191+15C>T
|
rs781558890
|
|
|
NM_003042.4(SLC6A1):c.1191+16_1191+17dup
|
rs3841958
|
|
|
NM_003042.4(SLC6A1):c.1191+17C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1191+17C>G
|
rs538418973
|
|
|
NM_003042.4(SLC6A1):c.1191+17C>T
|
rs538418973
|
|
|
NM_003042.4(SLC6A1):c.1191+17del
|
rs3841958
|
|
|
NM_003042.4(SLC6A1):c.1191+17dup
|
rs3841958
|
|
|
NM_003042.4(SLC6A1):c.1191+3G>A
|
|
|
|
NM_003042.4(SLC6A1):c.1191+9G>A
|
rs761322748
|
|
|
NM_003042.4(SLC6A1):c.1191+9G>C
|
rs761322748
|
|
|
NM_003042.4(SLC6A1):c.1191+9G>T
|
rs761322748
|
|
|
NM_003042.4(SLC6A1):c.1191+9del
|
|
|
|
NM_003042.4(SLC6A1):c.1192-18C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1192-1G>A
|
rs1697775354
|
|
|
NM_003042.4(SLC6A1):c.1192-2A>G
|
rs1697775287
|
|
|
NM_003042.4(SLC6A1):c.1192-5T>C
|
|
|
|
NM_003042.4(SLC6A1):c.1192-5T>G
|
|
|
|
NM_003042.4(SLC6A1):c.1192-6del
|
rs765936552
|
|
|
NM_003042.4(SLC6A1):c.1192T>C (p.Phe398Leu)
|
|
|
|
NM_003042.4(SLC6A1):c.1199C>T (p.Thr400Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1213A>C (p.Ile405Leu)
|
rs759515813
|
|
|
NM_003042.4(SLC6A1):c.1221C>T (p.Ala407=)
|
|
|
|
NM_003042.4(SLC6A1):c.1223T>G (p.Leu408Arg)
|
rs2124931871
|
|
|
NM_003042.4(SLC6A1):c.1224G>C (p.Leu408=)
|
|
|
|
NM_003042.4(SLC6A1):c.1229A>T (p.Asp410Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1233G>A (p.Glu411=)
|
|
|
|
NM_003042.4(SLC6A1):c.1234T>C (p.Tyr412His)
|
rs2124931904
|
|
|
NM_003042.4(SLC6A1):c.1236C>T (p.Tyr412=)
|
rs549028843
|
|
|
NM_003042.4(SLC6A1):c.1239C>T (p.Pro413=)
|
rs2124931931
|
|
|
NM_003042.4(SLC6A1):c.1248C>A (p.Leu416=)
|
rs1553690572
|
|
|
NM_003042.4(SLC6A1):c.1255del (p.Arg419fs)
|
rs1553690583
|
|
|
NM_003042.4(SLC6A1):c.1256G>T (p.Arg419Leu)
|
rs941588071
|
|
|
NM_003042.4(SLC6A1):c.1266C>T (p.Leu422=)
|
|
|
|
NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)
|
|
|
|
NM_003042.4(SLC6A1):c.1274C>T (p.Ala425Val)
|
|
|
|
NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn)
|
rs764382700
|
|
|
NM_003042.4(SLC6A1):c.1297C>T (p.Leu433=)
|
|
|
|
NM_003042.4(SLC6A1):c.1300A>T (p.Ile434Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.1302C>T (p.Ile434=)
|
rs200670508
|
|
|
NM_003042.4(SLC6A1):c.1304G>A (p.Gly435Asp)
|
rs2124932138
|
|
|
NM_003042.4(SLC6A1):c.1304G>T (p.Gly435Val)
|
|
|
|
NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)
|
rs1553687863
|
|
|
NM_003042.4(SLC6A1):c.1311dup (p.Asn438Ter)
|
rs2124932157
|
|
|
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)
|
rs794726859
|
|
|
NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)
|
rs794726859
|
|
|
NM_003042.4(SLC6A1):c.1323+11T>C
|
|
|
|
NM_003042.4(SLC6A1):c.1324-15C>T
|
|
|
|
NM_003042.4(SLC6A1):c.1324-4G>C
|
|
|
|
NM_003042.4(SLC6A1):c.1324-7C>T
|
rs780416796
|
|
|
NM_003042.4(SLC6A1):c.1324G>A (p.Gly442Arg)
|
|
|
|
NM_003042.4(SLC6A1):c.1325G>A (p.Gly442Glu)
|
|
|
|
NM_003042.4(SLC6A1):c.1326G>A (p.Gly442=)
|
|
|
|
NM_003042.4(SLC6A1):c.1326G>C (p.Gly442=)
|
|
|
|
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp)
|
rs1697891755
|
|
|
NM_003042.4(SLC6A1):c.1335dup (p.Val446fs)
|
rs1574917501
|
|
|
NM_003042.4(SLC6A1):c.1345C>T (p.Leu449Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.1357T>C (p.Tyr453His)
|
|
|
|
NM_003042.4(SLC6A1):c.1359C>T (p.Tyr453=)
|
|
|
|
NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)
|
|
|
|
NM_003042.4(SLC6A1):c.1366A>C (p.Ser456Arg)
|
rs1697893468
|
|
|
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys)
|
rs1697893468
|
|
|
NM_003042.4(SLC6A1):c.1368T>C (p.Ser456=)
|
rs2124936859
|
|
|
NM_003042.4(SLC6A1):c.1376G>C (p.Ser459Thr)
|
|
|
|
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg)
|
rs1064795099
|
|
|
NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met)
|
rs762550927
|
|
|
NM_003042.4(SLC6A1):c.1380G>A (p.Leu460=)
|
|
|
|
NM_003042.4(SLC6A1):c.1383G>A (p.Leu461=)
|
|
|
|
NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)
|
|
|
|
NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)
|
|
|
|
NM_003042.4(SLC6A1):c.1390G>A (p.Val464Met)
|
|
|
|
NM_003042.4(SLC6A1):c.1391T>A (p.Val464Glu)
|
rs1697894833
|
|
|
NM_003042.4(SLC6A1):c.1395C>T (p.Phe465=)
|
rs2124936955
|
|
|
NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.1401A>G (p.Glu467=)
|
|
|
|
NM_003042.4(SLC6A1):c.1402T>C (p.Cys468Arg)
|
rs1559636673
|
|
|
NM_003042.4(SLC6A1):c.1426+17C>T
|
|
|
|
NM_003042.4(SLC6A1):c.1426+3_1426+6del
|
rs1553691139
|
|
|
NM_003042.4(SLC6A1):c.1427-10_1427-7del
|
|
|
|
NM_003042.4(SLC6A1):c.1427-11C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1427-15C>T
|
|
|
|
NM_003042.4(SLC6A1):c.1427-18C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1427-18C>G
|
|
|
|
NM_003042.4(SLC6A1):c.1427-1G>A
|
rs1553691674
|
|
|
NM_003042.4(SLC6A1):c.1427-4del
|
|
|
|
NM_003042.4(SLC6A1):c.1427-8T>C
|
rs753100039
|
|
|
NM_003042.4(SLC6A1):c.1427-9A>G
|
rs1698019472
|
|
|
NM_003042.4(SLC6A1):c.1427G>A (p.Gly476Asp)
|
rs1698020197
|
|
|
NM_003042.4(SLC6A1):c.1435C>T (p.Arg479Ter)
|
rs745529755
|
|
|
NM_003042.4(SLC6A1):c.1438T>C (p.Phe480Leu)
|
rs758351251
|
|
|
NM_003042.4(SLC6A1):c.1439T>C (p.Phe480Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)
|
|
|
|
NM_003042.4(SLC6A1):c.1442A>T (p.Tyr481Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.1443T>C (p.Tyr481=)
|
rs1574922500
|
|
|
NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)
|
|
|
|
NM_003042.4(SLC6A1):c.1453C>G (p.Gln485Glu)
|
|
|
|
NM_003042.4(SLC6A1):c.1454A>G (p.Gln485Arg)
|
rs1359645826
|
|
|
NM_003042.4(SLC6A1):c.1458G>C (p.Glu486Asp)
|
|
|
|
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr)
|
rs1559639240
|
|
|
NM_003042.4(SLC6A1):c.1461G>A (p.Met487Ile)
|
rs1698021866
|
|
|
NM_003042.4(SLC6A1):c.1461_1462insCAG (p.Met487_Val488insGln)
|
rs1574922559
|
|
|
NM_003042.4(SLC6A1):c.1462G>A (p.Val488Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1475C>T (p.Pro492Leu)
|
|
|
|
NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)
|
rs754493263
|
|
|
NM_003042.4(SLC6A1):c.1494C>T (p.Leu498=)
|
rs2124942591
|
|
|
NM_003042.4(SLC6A1):c.1495T>C (p.Cys499Arg)
|
rs2124942597
|
|
|
NM_003042.4(SLC6A1):c.1496G>A (p.Cys499Tyr)
|
rs1574922621
|
|
|
NM_003042.4(SLC6A1):c.1498T>C (p.Trp500Arg)
|
|
|
|
NM_003042.4(SLC6A1):c.1504T>C (p.Phe502Leu)
|
rs1029475140
|
|
|
NM_003042.4(SLC6A1):c.1507T>C (p.Phe503Leu)
|
|
|
|
NM_003042.4(SLC6A1):c.1512A>G (p.Thr504=)
|
rs2124942636
|
|
|
NM_003042.4(SLC6A1):c.1513C>A (p.Pro505Thr)
|
rs1698023649
|
|
|
NM_003042.4(SLC6A1):c.1513C>G (p.Pro505Ala)
|
rs1698023649
|
|
|
NM_003042.4(SLC6A1):c.1517T>C (p.Ile506Thr)
|
|
|
|
NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)
|
|
|
|
NM_003042.4(SLC6A1):c.1520T>C (p.Ile507Thr)
|
rs1574922686
|
|
|
NM_003042.4(SLC6A1):c.1525G>A (p.Ala509Thr)
|
rs2124942675
|
|
|
NM_003042.4(SLC6A1):c.1527+12G>T
|
|
|
|
NM_003042.4(SLC6A1):c.1527+1G>A
|
|
|
|
NM_003042.4(SLC6A1):c.1527+7A>G
|
|
|
|
NM_003042.4(SLC6A1):c.1527+8C>A
|
|
|
|
NM_003042.4(SLC6A1):c.1527G>C (p.Ala509=)
|
|
|
|
NM_003042.4(SLC6A1):c.1528-14T>A
|
|
|
|
NM_003042.4(SLC6A1):c.1528-14T>C
|
|
|
|
NM_003042.4(SLC6A1):c.1528-16C>T
|
rs1402116303
|
|
|
NM_003042.4(SLC6A1):c.1528-7T>A
|
rs754449950
|
|
|
NM_003042.4(SLC6A1):c.1528-8C>A
|
rs1348558990
|
|
|
NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)
|
rs1553687887
|
|
|
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met)
|
rs1064794981
|
|
|
NM_003042.4(SLC6A1):c.1533G>A (p.Val511=)
|
rs1276757037
|
|
|
NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)
|
rs1574891085
|
|
|
NM_003042.4(SLC6A1):c.1552C>T (p.Gln518Ter)
|
|
|
|
NM_003042.4(SLC6A1):c.1557G>T (p.Met519Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1573_1574del (p.Gly525fs)
|
|
|
|
NM_003042.4(SLC6A1):c.1578C>G (p.Asn526Lys)
|
|
|
|
NM_003042.4(SLC6A1):c.1578C>T (p.Asn526=)
|
rs1698067347
|
|
|
NM_003042.4(SLC6A1):c.1594T>C (p.Trp532Arg)
|
rs2124944497
|
|
|
NM_003042.4(SLC6A1):c.1597G>C (p.Gly533Arg)
|
rs1698067665
|
|
|
NM_003042.4(SLC6A1):c.1598G>A (p.Gly533Asp)
|
|
|
|
NM_003042.4(SLC6A1):c.1598G>C (p.Gly533Ala)
|
rs1698067782
|
|
|
NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)
|
|
|
|
NM_003042.4(SLC6A1):c.1604G>T (p.Gly535Val)
|
|
|
|
NM_003042.4(SLC6A1):c.1607del (p.Val536fs)
|
|
|
|
NM_003042.4(SLC6A1):c.1608G>A (p.Val536=)
|
|
|
|
NM_003042.4(SLC6A1):c.160C>T (p.Leu54Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.1610G>C (p.Gly537Ala)
|
|
|
|
NM_003042.4(SLC6A1):c.162C>G (p.Leu54=)
|
rs752627902
|
|
|
NM_003042.4(SLC6A1):c.1635G>A (p.Met545Ile)
|
rs2124944561
|
|
|
NM_003042.4(SLC6A1):c.1640T>G (p.Leu547Arg)
|
rs1559640513
|
|
|
NM_003042.4(SLC6A1):c.1640del (p.Leu547fs)
|
rs1698068785
|
|
|
NM_003042.4(SLC6A1):c.1644C>T (p.Ile548=)
|
rs200481115
|
|
|
NM_003042.4(SLC6A1):c.1647C>G (p.Pro549=)
|
rs2272401
|
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
|
NM_003042.4(SLC6A1):c.1648G>C (p.Gly550Arg)
|
rs886042046
|
|
|
NM_003042.4(SLC6A1):c.1650G>A (p.Gly550=)
|
rs1175292635
|
|
|
NM_003042.4(SLC6A1):c.1652A>G (p.Tyr551Cys)
|
rs2124944638
|
|
|
NM_003042.4(SLC6A1):c.1655T>A (p.Met552Lys)
|
rs1368412515
|
|
|
NM_003042.4(SLC6A1):c.1658C>A (p.Ala553Asp)
|
rs1559640572
|
|
|
NM_003042.4(SLC6A1):c.165G>A (p.Met55Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1662C>T (p.Tyr554=)
|
|
|
|
NM_003042.4(SLC6A1):c.1673C>A (p.Thr558Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.1681G>A (p.Gly561Ser)
|
rs1574925115
|
|
|
NM_003042.4(SLC6A1):c.1686C>T (p.Ser562=)
|
rs1698071519
|
|
|
NM_003042.4(SLC6A1):c.1695+13C>G
|
|
|
|
NM_003042.4(SLC6A1):c.1695+16C>T
|
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|
NM_003042.4(SLC6A1):c.1695+1G>A
|
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|
NM_003042.4(SLC6A1):c.1695+3A>G
|
rs1559640624
|
|
|
NM_003042.4(SLC6A1):c.1696-12C>G
|
rs773131260
|
|
|
NM_003042.4(SLC6A1):c.1696-12C>T
|
|
|
|
NM_003042.4(SLC6A1):c.1696C>T (p.Arg566Cys)
|
|
|
|
NM_003042.4(SLC6A1):c.1697G>A (p.Arg566His)
|
rs767142926
|
|
|
NM_003042.4(SLC6A1):c.169T>G (p.Cys57Gly)
|
rs1697196424
|
|
|
NM_003042.4(SLC6A1):c.1705G>A (p.Val569Ile)
|
rs1193651446
|
|
|
NM_003042.4(SLC6A1):c.170G>A (p.Cys57Tyr)
|
rs2124905489
|
|
|
NM_003042.4(SLC6A1):c.170G>T (p.Cys57Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.1710G>T (p.Met570Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1711G>A (p.Val571Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.1717C>T (p.Pro573Ser)
|
rs760120415
|
|
|
NM_003042.4(SLC6A1):c.1722C>G (p.Ser574Arg)
|
rs145387062
|
|
|
NM_003042.4(SLC6A1):c.1723G>A (p.Glu575Lys)
|
|
|
|
NM_003042.4(SLC6A1):c.1724A>T (p.Glu575Val)
|
rs1553692346
|
|
|
NM_003042.4(SLC6A1):c.1727A>C (p.Asp576Ala)
|
rs1698164249
|
|
|
NM_003042.4(SLC6A1):c.1735C>T (p.Arg579Cys)
|
|
|
|
NM_003042.4(SLC6A1):c.1738C>G (p.Pro580Ala)
|
rs747243516
|
|
|
NM_003042.4(SLC6A1):c.1740A>G (p.Pro580=)
|
|
|
|
NM_003042.4(SLC6A1):c.1746T>C (p.Asn582=)
|
rs2124949321
|
|
|
NM_003042.4(SLC6A1):c.1747G>C (p.Gly583Arg)
|
rs1698165532
|
|
|
NM_003042.4(SLC6A1):c.1749T>C (p.Gly583=)
|
|
|
|
NM_003042.4(SLC6A1):c.1752T>C (p.Pro584=)
|
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NM_003042.4(SLC6A1):c.1753G>C (p.Glu585Gln)
|
rs1698165983
|
|
|
NM_003042.4(SLC6A1):c.1773C>G (p.Ser591Arg)
|
rs956462752
|
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NM_003042.4(SLC6A1):c.1776C>T (p.Ser592=)
|
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|
NM_003042.4(SLC6A1):c.1777A>C (p.Thr593Pro)
|
rs1698167143
|
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NM_003042.4(SLC6A1):c.1781G>A (p.Ser594Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.1789G>A (p.Ala597Thr)
|
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NM_003042.4(SLC6A1):c.1795A>G (p.Ile599Val)
|
rs566659046
|
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NM_003042.4(SLC6A1):c.1797C>A (p.Ile599=)
|
rs1698168556
|
|
|
NM_003042.4(SLC6A1):c.179A>G (p.Tyr60Cys)
|
|
|
|
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)
|
rs1057523845
|
|
|
NM_003042.4(SLC6A1):c.190C>T (p.Leu64=)
|
|
|
|
NM_003042.4(SLC6A1):c.194G>T (p.Gly65Val)
|
rs1697197329
|
|
|
NM_003042.4(SLC6A1):c.197del (p.Asn66fs)
|
rs1697197599
|
|
|
NM_003042.4(SLC6A1):c.201C>T (p.Val67=)
|
rs1574891179
|
|
|
NM_003042.4(SLC6A1):c.207G>C (p.Arg69Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.215A>G (p.Tyr72Cys)
|
|
|
|
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)
|
rs1064795852
|
|
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NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg)
|
rs1064795852
|
|
|
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu)
|
rs2124905654
|
|
|
NM_003042.4(SLC6A1):c.237G>A (p.Gly79=)
|
rs1392190073
|
|
|
NM_003042.4(SLC6A1):c.238+15G>A
|
|
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|
NM_003042.4(SLC6A1):c.238+18G>T
|
|
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|
NM_003042.4(SLC6A1):c.238+7G>A
|
rs2124905739
|
|
|
NM_003042.4(SLC6A1):c.238+9T>C
|
rs2124905757
|
|
|
NM_003042.4(SLC6A1):c.239-6C>T
|
rs1270790611
|
|
|
NM_003042.4(SLC6A1):c.242C>A (p.Ala81Asp)
|
rs2124906663
|
|
|
NM_003042.4(SLC6A1):c.250A>T (p.Ile84Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.252C>G (p.Ile84Met)
|
rs1697220075
|
|
|
NM_003042.4(SLC6A1):c.25del (p.Ala9fs)
|
rs1697186082
|
|
|
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=)
|
rs1697221045
|
|
|
NM_003042.4(SLC6A1):c.27C>T (p.Ala9=)
|
rs985468330
|
|
|
NM_003042.4(SLC6A1):c.292T>G (p.Phe98Val)
|
rs2124906828
|
|
|
NM_003042.4(SLC6A1):c.299T>C (p.Leu100Pro)
|
rs2124906844
|
|
|
NM_003042.4(SLC6A1):c.300G>A (p.Leu100=)
|
|
|
|
NM_003042.4(SLC6A1):c.302A>C (p.Glu101Ala)
|
|
|
|
NM_003042.4(SLC6A1):c.305G>T (p.Cys102Phe)
|
rs1553688027
|
|
|
NM_003042.4(SLC6A1):c.309C>T (p.Ser103=)
|
|
|
|
NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)
|
|
|
|
NM_003042.4(SLC6A1):c.313G>T (p.Gly105Cys)
|
rs144322561
|
|
|
NM_003042.4(SLC6A1):c.314G>A (p.Gly105Asp)
|
rs1697222986
|
|
|
NM_003042.4(SLC6A1):c.316C>T (p.Gln106Ter)
|
|
|
|
NM_003042.4(SLC6A1):c.323C>A (p.Thr108Asn)
|
|
|
|
NM_003042.4(SLC6A1):c.331G>A (p.Gly111Arg)
|
rs1559622516
|
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
|
NM_003042.4(SLC6A1):c.332G>T (p.Gly111Val)
|
rs1574892457
|
|
|
NM_003042.4(SLC6A1):c.336dup (p.Leu113fs)
|
rs1697224249
|
|
|
NM_003042.4(SLC6A1):c.342G>T (p.Gly114=)
|
|
|
|
NM_003042.4(SLC6A1):c.354G>A (p.Leu118=)
|
rs1029839205
|
|
|
NM_003042.4(SLC6A1):c.354G>T (p.Leu118=)
|
rs1029839205
|
|
|
NM_003042.4(SLC6A1):c.360T>C (p.Pro120=)
|
rs776026803
|
|
|
NM_003042.4(SLC6A1):c.361A>G (p.Met121Val)
|
rs2124907057
|
|
|
NM_003042.4(SLC6A1):c.366C>T (p.Phe122=)
|
rs1697225966
|
|
|
NM_003042.4(SLC6A1):c.370+15C>T
|
|
|
|
NM_003042.4(SLC6A1):c.370+16A>G
|
|
|
|
NM_003042.4(SLC6A1):c.370+17G>A
|
|
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|
NM_003042.4(SLC6A1):c.370+18G>A
|
|
|
|
NM_003042.4(SLC6A1):c.370+18G>C
|
|
|
|
NM_003042.4(SLC6A1):c.370+2T>C
|
|
|
|
NM_003042.4(SLC6A1):c.370+2del
|
rs2124907093
|
|
|
NM_003042.4(SLC6A1):c.370G>A (p.Gly124Ser)
|
rs2124907082
|
|
|
NM_003042.4(SLC6A1):c.371-16dup
|
|
|
|
NM_003042.4(SLC6A1):c.371-5C>G
|
|
|
|
NM_003042.4(SLC6A1):c.372C>T (p.Gly124=)
|
|
|
|
NM_003042.4(SLC6A1):c.373G>A (p.Val125Met)
|
rs1574893965
|
|
|
NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)
|
rs1553687808
|
|
|
NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)
|
rs1553687808
|
|
|
NM_003042.4(SLC6A1):c.386C>T (p.Ala129Val)
|
rs1697262028
|
|
|
NM_003042.4(SLC6A1):c.395T>C (p.Leu132Pro)
|
rs2124908640
|
|
|
NM_003042.4(SLC6A1):c.400T>C (p.Phe134Leu)
|
rs1697262942
|
|
|
NM_003042.4(SLC6A1):c.403_423del (p.Trp135_Ile141del)
|
rs2124908675
|
|
|
NM_003042.4(SLC6A1):c.404G>A (p.Trp135Ter)
|
rs1697263091
|
|
|
NM_003042.4(SLC6A1):c.40T>C (p.Ser14Pro)
|
rs1697187552
|
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
|
NM_003042.4(SLC6A1):c.423C>T (p.Ile141=)
|
|
|
|
NM_003042.4(SLC6A1):c.434C>T (p.Ser145Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.438G>T (p.Trp146Cys)
|
rs2124908813
|
|
|
NM_003042.4(SLC6A1):c.449del (p.Tyr150fs)
|
rs2124908824
|
|
|
NM_003042.4(SLC6A1):c.452T>C (p.Leu151Pro)
|
|
|
|
NM_003042.4(SLC6A1):c.452T>G (p.Leu151Arg)
|
rs1697264679
|
|
|
NM_003042.4(SLC6A1):c.469A>G (p.Thr157Ala)
|
rs2124908883
|
|
|
NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)
|
|
|
|
NM_003042.4(SLC6A1):c.470C>T (p.Thr157Met)
|
|
|
|
NM_003042.4(SLC6A1):c.471+11C>A
|
|
|
|
NM_003042.4(SLC6A1):c.471+14T>A
|
|
|
|
NM_003042.4(SLC6A1):c.471+1G>T
|
rs1559623389
|
|
|
NM_003042.4(SLC6A1):c.471+5G>A
|
rs2124908923
|
|
|
NM_003042.4(SLC6A1):c.471+8G>T
|
|
|
|
NM_003042.4(SLC6A1):c.472-10G>T
|
|
|
|
NM_003042.4(SLC6A1):c.472-10_472-9del
|
|
|
|
NM_003042.4(SLC6A1):c.472-1G>C
|
rs1697337518
|
|
|
NM_003042.4(SLC6A1):c.472-5T>C
|
rs1574896904
|
|
|
NM_003042.4(SLC6A1):c.472-8C>T
|
|
|
|
NM_003042.4(SLC6A1):c.480G>A (p.Pro160=)
|
|
|
|
NM_003042.4(SLC6A1):c.492C>A (p.Cys164Ter)
|
|
|
|
NM_003042.4(SLC6A1):c.493G>A (p.Asp165Asn)
|
rs748779390
|
|
|
NM_003042.4(SLC6A1):c.502T>C (p.Trp168Arg)
|
|
|
|
NM_003042.4(SLC6A1):c.502del (p.Trp168fs)
|
|
|
|
NM_003042.4(SLC6A1):c.506A>T (p.Asn169Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.515G>A (p.Arg172His)
|
|
|
|
NM_003042.4(SLC6A1):c.521T>C (p.Phe174Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.523_524insA (p.Ser175fs)
|
rs1574897036
|
|
|
NM_003042.4(SLC6A1):c.535A>T (p.Met179Leu)
|
rs34299874
|
|
|
NM_003042.4(SLC6A1):c.538G>A (p.Val180Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.538G>T (p.Val180Phe)
|
rs2124912568
|
|
|
NM_003042.4(SLC6A1):c.539T>G (p.Val180Gly)
|
rs2124912579
|
|
|
NM_003042.4(SLC6A1):c.543C>A (p.Asn181Lys)
|
|
|
|
NM_003042.4(SLC6A1):c.548C>T (p.Thr183Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.549C>T (p.Thr183=)
|
|
|
|
NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)
|
rs1697188624
|
|
|
NM_003042.4(SLC6A1):c.553A>G (p.Met185Val)
|
rs1697341413
|
|
|
NM_003042.4(SLC6A1):c.561C>T (p.Ser187=)
|
rs1553688537
|
|
|
NM_003042.4(SLC6A1):c.566del (p.Val189fs)
|
rs2124912717
|
|
|
NM_003042.4(SLC6A1):c.570G>A (p.Val190=)
|
|
|
|
NM_003042.4(SLC6A1):c.576C>A (p.Phe192Leu)
|
rs1697342927
|
|
|
NM_003042.4(SLC6A1):c.578G>T (p.Trp193Leu)
|
rs1697343079
|
|
|
NM_003042.4(SLC6A1):c.581+18A>C
|
rs2124912794
|
|
|
NM_003042.4(SLC6A1):c.581+1G>C
|
|
|
|
NM_003042.4(SLC6A1):c.581+3G>A
|
rs1442190993
|
|
|
NM_003042.4(SLC6A1):c.581+3G>C
|
rs1442190993
|
|
|
NM_003042.4(SLC6A1):c.582-10G>C
|
rs746794580
|
|
|
NM_003042.4(SLC6A1):c.582-10G>T
|
rs746794580
|
|
|
NM_003042.4(SLC6A1):c.582-9_582-6del
|
rs2124917521
|
|
|
NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)
|
|
|
|
NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu)
|
rs913073947
|
|
|
NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)
|
|
|
|
NM_003042.4(SLC6A1):c.602C>T (p.Thr201Met)
|
|
|
|
NM_003042.4(SLC6A1):c.606C>A (p.Asp202Glu)
|
|
|
|
NM_003042.4(SLC6A1):c.606C>G (p.Asp202Glu)
|
rs146894194
|
|
|
NM_003042.4(SLC6A1):c.606C>T (p.Asp202=)
|
|
|
|
NM_003042.4(SLC6A1):c.618G>A (p.Lys206=)
|
rs761767066
|
|
|
NM_003042.4(SLC6A1):c.631C>T (p.Arg211Cys)
|
|
|
|
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)
|
rs1553688970
|
|
|
NM_003042.4(SLC6A1):c.643_661dup (p.Ala221fs)
|
rs2124917812
|
|
|
NM_003042.4(SLC6A1):c.650C>T (p.Thr217Met)
|
rs1396036517
|
|
|
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=)
|
rs6344
|
|
|
NM_003042.4(SLC6A1):c.651G>T (p.Thr217=)
|
rs6344
|
|
|
NM_003042.4(SLC6A1):c.658A>G (p.Ile220Val)
|
rs754749693
|
|
|
NM_003042.4(SLC6A1):c.658_663del (p.Ile220_Ala221del)
|
|
|
|
NM_003042.4(SLC6A1):c.660C>A (p.Ile220=)
|
rs760984163
|
|
|
NM_003042.4(SLC6A1):c.676T>C (p.Tyr226His)
|
|
|
|
NM_003042.4(SLC6A1):c.684T>C (p.Cys228=)
|
rs1697443650
|
|
|
NM_003042.4(SLC6A1):c.689G>A (p.Trp230Ter)
|
|
|
|
NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)
|
|
|
|
NM_003042.4(SLC6A1):c.700G>A (p.Gly234Ser)
|
rs2124917991
|
|
|
NM_003042.4(SLC6A1):c.704G>A (p.Trp235Ter)
|
rs1697444489
|
|
|
NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)
|
|
|
|
NM_003042.4(SLC6A1):c.714+17C>T
|
|
|
|
NM_003042.4(SLC6A1):c.714+18A>G
|
|
|
|
NM_003042.4(SLC6A1):c.714+2T>G
|
|
|
|
NM_003042.4(SLC6A1):c.715-4C>A
|
|
|
|
NM_003042.4(SLC6A1):c.715G>A (p.Val239Met)
|
rs2124924012
|
|
|
NM_003042.4(SLC6A1):c.719T>C (p.Val240Ala)
|
rs1184399068
|
|
|
NM_003042.4(SLC6A1):c.720C>T (p.Val240=)
|
rs2124924042
|
|
|
NM_003042.4(SLC6A1):c.724T>A (p.Phe242Ile)
|
|
|
|
NM_003042.4(SLC6A1):c.732C>T (p.Ala244=)
|
|
|
|
NM_003042.4(SLC6A1):c.735A>T (p.Thr245=)
|
|
|
|
NM_003042.4(SLC6A1):c.740C>T (p.Pro247Leu)
|
rs1057524158
|
|
|
NM_003042.4(SLC6A1):c.743A>T (p.Tyr248Phe)
|
|
|
|
NM_003042.4(SLC6A1):c.747C>A (p.Ile249=)
|
rs1052037726
|
|
|
NM_003042.4(SLC6A1):c.762G>A (p.Leu254=)
|
rs1574906506
|
|
|
NM_003042.4(SLC6A1):c.767T>C (p.Phe256Ser)
|
rs1559629753
|
|
|
NM_003042.4(SLC6A1):c.773G>A (p.Gly258Glu)
|
|
|
|
NM_003042.4(SLC6A1):c.781C>G (p.Leu261Val)
|
|
|
|
NM_003042.4(SLC6A1):c.784C>T (p.Pro262Ser)
|
rs1574906592
|
|
|
NM_003042.4(SLC6A1):c.789G>T (p.Gly263=)
|
rs772195247
|
|
|
NM_003042.4(SLC6A1):c.799G>A (p.Gly267Ser)
|
rs2124924313
|
|
|
NM_003042.4(SLC6A1):c.803T>C (p.Ile268Thr)
|
|
|
|
NM_003042.4(SLC6A1):c.804C>T (p.Ile268=)
|
|
|
|
NM_003042.4(SLC6A1):c.805C>T (p.Leu269Phe)
|
rs2124924355
|
|
|
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser)
|
rs1553689580
|
|
|
NM_003042.4(SLC6A1):c.814A>G (p.Ile272Val)
|
rs910919772
|
|
|
NM_003042.4(SLC6A1):c.821C>G (p.Pro274Arg)
|
rs2124924416
|
|
|
NM_003042.4(SLC6A1):c.829C>A (p.Arg277Ser)
|
rs377383740
|
|
|
NM_003042.4(SLC6A1):c.830G>T (p.Arg277Leu)
|
|
|
|
NM_003042.4(SLC6A1):c.831C>T (p.Arg277=)
|
|
|
|
NM_003042.4(SLC6A1):c.837G>A (p.Leu279=)
|
|
|
|
NM_003042.4(SLC6A1):c.847G>A (p.Glu283Lys)
|
rs1697587984
|
|
|
NM_003042.4(SLC6A1):c.849+10C>T
|
rs2124924582
|
|
|
NM_003042.4(SLC6A1):c.849+8C>A
|
rs1298534380
|
|
|
NM_003042.4(SLC6A1):c.849G>C (p.Glu283Asp)
|
|
|
|
NM_003042.4(SLC6A1):c.850-1G>A
|
rs2124924932
|
|
|
NM_003042.4(SLC6A1):c.850-7C>T
|
|
|
|
NM_003042.4(SLC6A1):c.850G>T (p.Val284Leu)
|
rs1559630133
|
|
|
NM_003042.4(SLC6A1):c.853T>C (p.Trp285Arg)
|
rs1559630143
|
|
|
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)
|
rs2124924957
|
|
|
NM_003042.4(SLC6A1):c.856C>G (p.Leu286Val)
|
|
|
|
NM_003042.4(SLC6A1):c.856C>T (p.Leu286=)
|
|
|
|
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr)
|
rs2124924976
|
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
|
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
|
|
|
|
NM_003042.4(SLC6A1):c.885A>C (p.Ser295=)
|
rs563719346
|
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
|
NM_003042.4(SLC6A1):c.890G>T (p.Gly297Val)
|
rs1697598818
|
|
|
NM_003042.4(SLC6A1):c.891G>C (p.Gly297=)
|
rs151039956
|
|
|
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
|
|
|
|
NM_003042.4(SLC6A1):c.903G>C (p.Gly301=)
|
rs756380074
|
|
|
NM_003042.4(SLC6A1):c.903G>T (p.Gly301=)
|
rs756380074
|
|
|
NM_003042.4(SLC6A1):c.904T>A (p.Ser302Thr)
|
rs1574907293
|
|
|
NM_003042.4(SLC6A1):c.906C>A (p.Ser302=)
|
rs1239880200
|
|
|
NM_003042.4(SLC6A1):c.912C>A (p.Ile304=)
|
rs35450949
|
|
|
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)
|
rs1391625316
|
|
|
NM_003042.4(SLC6A1):c.914C>T (p.Ala305Val)
|
|
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
|
NM_003042.4(SLC6A1):c.930C>A (p.Asn310Lys)
|
rs1697600999
|
|
|
NM_003042.4(SLC6A1):c.939C>A (p.His313Gln)
|
|
|
|
NM_003042.4(SLC6A1):c.943A>G (p.Asn315Asp)
|
rs768276892
|
|
|
NM_003042.4(SLC6A1):c.945T>C (p.Asn315=)
|
|
|
|
NM_003042.4(SLC6A1):c.953+12_953+22del
|
|
|
|
NM_003042.4(SLC6A1):c.953+13A>C
|
|
|
|
NM_003042.4(SLC6A1):c.953+20G>A
|
|
|
|
NM_003042.4(SLC6A1):c.953+9G>A
|
rs761823218
|
|
|
NM_003042.4(SLC6A1):c.954-10C>G
|
|
|
|
NM_003042.4(SLC6A1):c.954-15C>T
|
|
|
|
NM_003042.4(SLC6A1):c.954-17C>A
|
|
|
|
NM_003042.4(SLC6A1):c.954-17C>T
|
|
|
|
NM_003042.4(SLC6A1):c.954-6C>G
|
|
|
|
NM_003042.4(SLC6A1):c.954-8C>G
|
|
|
|
NM_003042.4(SLC6A1):c.954-9T>A
|
|
|
|
NM_003042.4(SLC6A1):c.961A>G (p.Ile321Val)
|
|
|
|
NM_003042.4(SLC6A1):c.967G>T (p.Val323Phe)
|
rs1403165900
|
|
|
NM_003042.4(SLC6A1):c.968T>A (p.Val323Asp)
|
|
|
|
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)
|
rs1334690406
|
|
|
NM_003042.4(SLC6A1):c.983C>T (p.Ser328Leu)
|
rs779431997
|
|
|
NM_003042.4(SLC6A1):c.984G>A (p.Ser328=)
|
rs748162040
|
|
|
NM_003042.4(SLC6A1):c.984G>C (p.Ser328=)
|
rs748162040
|
|
|
NM_003042.4(SLC6A1):c.985T>A (p.Cys329Ser)
|
|
|
|
NM_003042.4(SLC6A1):c.988A>C (p.Thr330Pro)
|
|
|
|
NM_003042.4(SLC6A1):c.990_991delinsAG (p.Ser331Gly)
|
rs1697624889
|
|
|
NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)
|
|
|
|
NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)
|
|
|
|
NM_003060.4(SLC22A5):c.1006C>A (p.Arg336=)
|
|
|
|
NM_003060.4(SLC22A5):c.1011C>T (p.Thr337=)
|
|
|
|
NM_003060.4(SLC22A5):c.1023G>A (p.Arg341=)
|
|
|
|
NM_003060.4(SLC22A5):c.1035C>G (p.Ile345Met)
|
|
|
|
NM_003060.4(SLC22A5):c.1035C>T (p.Ile345=)
|
rs780982778
|
|
|
NM_003060.4(SLC22A5):c.1036A>G (p.Met346Val)
|
rs745453534
|
|
|
NM_003060.4(SLC22A5):c.1041C>T (p.Ser347=)
|
|
|
|
NM_003060.4(SLC22A5):c.1044A>G (p.Ile348Met)
|
|
|
|
NM_003060.4(SLC22A5):c.1046T>C (p.Met349Thr)
|
rs1280789093
|
|
|
NM_003060.4(SLC22A5):c.104C>G (p.Thr35Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.104C>T (p.Thr35Ile)
|
rs759704527
|
|
|
NM_003060.4(SLC22A5):c.104_153delinsATGGTATGTCAGTCGTGTTCCTGGCGGGGACCCCGGAGCACCGCTGTCGA (p.Thr35_Ala44delinsAsnGlyMetSerValValPheLeuAlaGly)
|
|
|
|
NM_003060.4(SLC22A5):c.1050G>A (p.Leu350=)
|
|
|
|
NM_003060.4(SLC22A5):c.1052+10A>G
|
|
|
|
NM_003060.4(SLC22A5):c.1052+11G>T
|
|
|
|
NM_003060.4(SLC22A5):c.1052+3A>G
|
rs2126788177
|
|
|
NM_003060.4(SLC22A5):c.1053-12A>G
|
|
|
|
NM_003060.4(SLC22A5):c.1053-13_1053-7del
|
|
|
|
NM_003060.4(SLC22A5):c.1053-16C>A
|
|
|
|
NM_003060.4(SLC22A5):c.1053-17T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1053-17T>G
|
|
|
|
NM_003060.4(SLC22A5):c.1053-19C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1053-20T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1053-6T>C
|
rs1752665099
|
|
|
NM_003060.4(SLC22A5):c.1053-7G>A
|
rs747417349
|
|
|
NM_003060.4(SLC22A5):c.1053-7G>T
|
|
|
|
NM_003060.4(SLC22A5):c.1053-7_1053-6del
|
|
|
|
NM_003060.4(SLC22A5):c.1055T>C (p.Met352Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.1060A>G (p.Ile354Val)
|
rs1166753949
|
|
|
NM_003060.4(SLC22A5):c.1060dup (p.Ile354fs)
|
rs1752666026
|
|
|
NM_003060.4(SLC22A5):c.1062A>G (p.Ile354Met)
|
rs2126789583
|
|
|
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.1073A>G (p.Tyr358Cys)
|
|
|
|
NM_003060.4(SLC22A5):c.1076T>C (p.Phe359Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup)
|
rs896634334
|
|
|
NM_003060.4(SLC22A5):c.1080G>C (p.Gly360=)
|
rs139508856
|
|
|
NM_003060.4(SLC22A5):c.1080G>T (p.Gly360=)
|
rs139508856
|
|
|
NM_003060.4(SLC22A5):c.1080_1081delinsTA (p.Leu361Ile)
|
rs1580892228
|
|
|
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs)
|
rs1580892239
|
|
|
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu)
|
rs886042092
|
|
|
NM_003060.4(SLC22A5):c.1088T>A (p.Leu363His)
|
rs386134214
|
|
|
NM_003060.4(SLC22A5):c.1088T>C (p.Leu363Pro)
|
rs386134214
|
|
|
NM_003060.4(SLC22A5):c.108C>T (p.Gly36=)
|
|
|
|
NM_003060.4(SLC22A5):c.1090del (p.Asp364fs)
|
|
|
|
NM_003060.4(SLC22A5):c.1096C>T (p.Pro366Ser)
|
rs767240544
|
|
|
NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val)
|
rs796052037
|
|
|
NM_003060.4(SLC22A5):c.1107T>C (p.His369=)
|
rs1580892312
|
|
|
NM_003060.4(SLC22A5):c.1109G>A (p.Gly370Glu)
|
rs2126789674
|
|
|
NM_003060.4(SLC22A5):c.111G>A (p.Leu37=)
|
|
|
|
NM_003060.4(SLC22A5):c.1127_1130del (p.Cys376fs)
|
|
|
|
NM_003060.4(SLC22A5):c.112T>A (p.Ser38Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.1131C>T (p.Phe377=)
|
rs2126789694
|
|
|
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.113C>G (p.Ser38Cys)
|
|
|
|
NM_003060.4(SLC22A5):c.1140G>C (p.Ala380=)
|
|
|
|
NM_003060.4(SLC22A5):c.1140G>T (p.Ala380=)
|
|
|
|
NM_003060.4(SLC22A5):c.1146T>C (p.Val382=)
|
rs1405950971
|
|
|
NM_003060.4(SLC22A5):c.1146T>G (p.Val382=)
|
|
|
|
NM_003060.4(SLC22A5):c.1149A>G (p.Glu383=)
|
rs1450996221
|
|
|
NM_003060.4(SLC22A5):c.114C>G (p.Ser38=)
|
rs756867867
|
|
|
NM_003060.4(SLC22A5):c.1150G>A (p.Val384Ile)
|
|
|
|
NM_003060.4(SLC22A5):c.1152C>T (p.Val384=)
|
|
|
|
NM_003060.4(SLC22A5):c.1155A>G (p.Pro385=)
|
|
|
|
NM_003060.4(SLC22A5):c.1158A>G (p.Ala386=)
|
|
|
|
NM_003060.4(SLC22A5):c.1158del (p.Tyr387fs)
|
rs1580892402
|
|
|
NM_003060.4(SLC22A5):c.1159T>C (p.Tyr387His)
|
rs2126789736
|
|
|
NM_003060.4(SLC22A5):c.1164G>A (p.Val388=)
|
rs1752671285
|
|
|
NM_003060.4(SLC22A5):c.1168G>A (p.Ala390Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.1169C>G (p.Ala390Gly)
|
rs1752671467
|
|
|
NM_003060.4(SLC22A5):c.1170C>G (p.Ala390=)
|
rs774368158
|
|
|
NM_003060.4(SLC22A5):c.1172G>A (p.Trp391Ter)
|
rs1554088165
|
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
|
NM_003060.4(SLC22A5):c.1182G>A (p.Leu394=)
|
rs2126789783
|
|
|
NM_003060.4(SLC22A5):c.119T>A (p.Val40Glu)
|
rs1561560593
|
|
|
NM_003060.4(SLC22A5):c.1205C>G (p.Ser402Cys)
|
|
|
|
NM_003060.4(SLC22A5):c.1207A>G (p.Met403Val)
|
rs2126789830
|
|
|
NM_003060.4(SLC22A5):c.120G>A (p.Val40=)
|
|
|
|
NM_003060.4(SLC22A5):c.1212C>T (p.Ala404=)
|
|
|
|
NM_003060.4(SLC22A5):c.1218C>T (p.Ala406=)
|
|
|
|
NM_003060.4(SLC22A5):c.1225C>G (p.Leu409Val)
|
rs573330330
|
|
|
NM_003060.4(SLC22A5):c.1225C>T (p.Leu409=)
|
|
|
|
NM_003060.4(SLC22A5):c.1227G>T (p.Leu409=)
|
|
|
|
NM_003060.4(SLC22A5):c.1234A>C (p.Ser412Arg)
|
rs1057518364
|
|
|
NM_003060.4(SLC22A5):c.1235G>A (p.Ser412Asn)
|
rs2126789869
|
|
|
NM_003060.4(SLC22A5):c.1238T>C (p.Val413Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.1239C>T (p.Val413=)
|
|
|
|
NM_003060.4(SLC22A5):c.123C>G (p.Phe41Leu)
|
rs2126764960
|
|
|
NM_003060.4(SLC22A5):c.1240del (p.Leu414fs)
|
rs2126789878
|
|
|
NM_003060.4(SLC22A5):c.1242T>C (p.Leu414=)
|
|
|
|
NM_003060.4(SLC22A5):c.1252C>T (p.Gln418Ter)
|
rs1057518297
|
|
|
NM_003060.4(SLC22A5):c.1255C>T (p.Leu419=)
|
rs780591287
|
|
|
NM_003060.4(SLC22A5):c.1264_1265dup (p.Asp423fs)
|
|
|
|
NM_003060.4(SLC22A5):c.1267+12G>A
|
|
|
|
NM_003060.4(SLC22A5):c.1267+14G>C
|
|
|
|
NM_003060.4(SLC22A5):c.1267+16A>C
|
rs2126789947
|
|
|
NM_003060.4(SLC22A5):c.1267+3_1267+24del
|
rs1554088199
|
|
|
NM_003060.4(SLC22A5):c.1267+9C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1268-15C>A
|
|
|
|
NM_003060.4(SLC22A5):c.1268-16del
|
|
|
|
NM_003060.4(SLC22A5):c.1268-19C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1268-4C>T
|
rs2126791278
|
|
|
NM_003060.4(SLC22A5):c.1268-9C>A
|
|
|
|
NM_003060.4(SLC22A5):c.1268-9C>T
|
rs1183308619
|
|
|
NM_003060.4(SLC22A5):c.126G>T (p.Leu42=)
|
rs2126764965
|
|
|
NM_003060.4(SLC22A5):c.1286C>T (p.Thr429Ile)
|
|
|
|
NM_003060.4(SLC22A5):c.1289del (p.Val430fs)
|
rs2126791314
|
|
|
NM_003060.4(SLC22A5):c.1290C>T (p.Val430=)
|
|
|
|
NM_003060.4(SLC22A5):c.1293G>A (p.Leu431=)
|
rs1580894161
|
|
|
NM_003060.4(SLC22A5):c.1295T>C (p.Val432Ala)
|
rs1172191328
|
|
|
NM_003060.4(SLC22A5):c.1296G>A (p.Val432=)
|
|
|
|
NM_003060.4(SLC22A5):c.1298T>C (p.Met433Thr)
|
rs779385095
|
|
|
NM_003060.4(SLC22A5):c.1299G>A (p.Met433Ile)
|
|
|
|
NM_003060.4(SLC22A5):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.1304del (p.Gly435fs)
|
rs386134217
|
|
|
NM_003060.4(SLC22A5):c.131C>A (p.Ala44Glu)
|
|
|
|
NM_003060.4(SLC22A5):c.131C>G (p.Ala44Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.1323T>C (p.Ala441=)
|
|
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
|
NM_003060.4(SLC22A5):c.1326C>T (p.Ala442=)
|
|
|
|
NM_003060.4(SLC22A5):c.1327T>C (p.Phe443Leu)
|
rs1580894264
|
|
|
NM_003060.4(SLC22A5):c.132G>A (p.Ala44=)
|
|
|
|
NM_003060.4(SLC22A5):c.132G>C (p.Ala44=)
|
|
|
|
NM_003060.4(SLC22A5):c.1331C>G (p.Ser444Cys)
|
|
|
|
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)
|
rs1183338050
|
|
|
NM_003060.4(SLC22A5):c.1347C>A (p.Tyr449Ter)
|
rs2126791445
|
|
|
NM_003060.4(SLC22A5):c.1347del (p.Val448_Tyr449insTer)
|
|
|
|
NM_003060.4(SLC22A5):c.134C>A (p.Thr45Asn)
|
|
|
|
NM_003060.4(SLC22A5):c.1350A>G (p.Thr450=)
|
rs1752737905
|
|
|
NM_003060.4(SLC22A5):c.1350del (p.Ala451fs)
|
rs2126791456
|
|
|
NM_003060.4(SLC22A5):c.1357C>T (p.Leu453=)
|
rs1752738264
|
|
|
NM_003060.4(SLC22A5):c.135C>A (p.Thr45=)
|
rs202000855
|
|
|
NM_003060.4(SLC22A5):c.135C>T (p.Thr45=)
|
rs202000855
|
|
|
NM_003060.4(SLC22A5):c.1361A>T (p.Tyr454Phe)
|
|
|
|
NM_003060.4(SLC22A5):c.1363C>A (p.Pro455Thr)
|
rs1326829327
|
|
|
NM_003060.4(SLC22A5):c.136C>G (p.Pro46Ala)
|
rs202088921
|
|
|
NM_003060.4(SLC22A5):c.1380C>A (p.Asn460Lys)
|
|
|
|
NM_003060.4(SLC22A5):c.1384G>A (p.Gly462Ser)
|
rs1193551446
|
|
|
NM_003060.4(SLC22A5):c.1386T>C (p.Gly462=)
|
rs757611449
|
|
|
NM_003060.4(SLC22A5):c.1387G>T (p.Val463Leu)
|
rs2126791543
|
|
|
NM_003060.4(SLC22A5):c.138G>A (p.Pro46=)
|
rs895093633
|
|
|
NM_003060.4(SLC22A5):c.1391G>A (p.Gly464Glu)
|
rs1752740146
|
|
|
NM_003060.4(SLC22A5):c.1392A>G (p.Gly464=)
|
|
|
|
NM_003060.4(SLC22A5):c.1392_1409del (p.Val465_Ser470del)
|
|
|
|
NM_003060.4(SLC22A5):c.1397G>C (p.Ser466Thr)
|
rs2126791559
|
|
|
NM_003060.4(SLC22A5):c.1399T>C (p.Ser467Pro)
|
|
|
|
NM_003060.4(SLC22A5):c.1401C>T (p.Ser467=)
|
rs1449055165
|
|
|
NM_003060.4(SLC22A5):c.1403C>G (p.Thr468Arg)
|
rs386134221
|
|
|
NM_003060.4(SLC22A5):c.1409C>A (p.Ser470Tyr)
|
|
|
|
NM_003060.4(SLC22A5):c.140A>T (p.Glu47Val)
|
|
|
|
NM_003060.4(SLC22A5):c.1411C>A (p.Arg471Ser)
|
rs749282641
|
|
|
NM_003060.4(SLC22A5):c.1411_1426dup (p.Leu476fs)
|
|
|
|
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His)
|
rs386134223
|
|
|
NM_003060.4(SLC22A5):c.1412G>C (p.Arg471Pro)
|
rs386134223
|
|
|
NM_003060.4(SLC22A5):c.1419C>A (p.Gly473=)
|
rs1752741619
|
|
|
NM_003060.4(SLC22A5):c.141G>A (p.Glu47=)
|
|
|
|
NM_003060.4(SLC22A5):c.1425C>T (p.Ile475=)
|
|
|
|
NM_003060.4(SLC22A5):c.1428G>A (p.Leu476=)
|
|
|
|
NM_003060.4(SLC22A5):c.1430C>T (p.Ser477Phe)
|
|
|
|
NM_003060.4(SLC22A5):c.1432C>T (p.Pro478Ser)
|
rs2126791630
|
|
|
NM_003060.4(SLC22A5):c.1433C>T (p.Pro478Leu)
|
rs72552735
|
|
|
NM_003060.4(SLC22A5):c.1437C>T (p.Tyr479=)
|
rs761305616
|
|
|
NM_003060.4(SLC22A5):c.1440C>G (p.Phe480Leu)
|
rs150457229
|
|
|
NM_003060.4(SLC22A5):c.1441G>T (p.Val481Phe)
|
rs11568513
|
|
|
NM_003060.4(SLC22A5):c.1446C>G (p.Tyr482Ter)
|
rs569268772
|
|
|
NM_003060.4(SLC22A5):c.1446C>T (p.Tyr482=)
|
|
|
|
NM_003060.4(SLC22A5):c.1450+20G>A
|
|
|
|
NM_003060.4(SLC22A5):c.1450+5G>A
|
rs1752743445
|
|
|
NM_003060.4(SLC22A5):c.1450+7C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1450+8C>A
|
rs1261757663
|
|
|
NM_003060.4(SLC22A5):c.1450+8C>G
|
|
|
|
NM_003060.4(SLC22A5):c.1451-10T>G
|
rs2126792599
|
|
|
NM_003060.4(SLC22A5):c.1451-11C>G
|
|
|
|
NM_003060.4(SLC22A5):c.1451-18C>G
|
|
|
|
NM_003060.4(SLC22A5):c.1451-3T>A
|
rs760324689
|
|
|
NM_003060.4(SLC22A5):c.1451-4A>G
|
|
|
|
NM_003060.4(SLC22A5):c.1451-5C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1451G>A (p.Gly484Asp)
|
rs28383480
|
|
|
NM_003060.4(SLC22A5):c.1452T>G (p.Gly484=)
|
rs2126792615
|
|
|
NM_003060.4(SLC22A5):c.1457A>G (p.Tyr486Cys)
|
|
|
|
NM_003060.4(SLC22A5):c.1458C>G (p.Tyr486Ter)
|
rs763224132
|
|
|
NM_003060.4(SLC22A5):c.1459G>A (p.Asp487Asn)
|
rs1752782020
|
|
|
NM_003060.4(SLC22A5):c.1461C>T (p.Asp487=)
|
|
|
|
NM_003060.4(SLC22A5):c.1462del (p.Arg488fs)
|
|
|
|
NM_003060.4(SLC22A5):c.1467C>T (p.Phe489=)
|
|
|
|
NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys)
|
rs1413377442
|
|
|
NM_003060.4(SLC22A5):c.1477A>C (p.Ile493Leu)
|
rs2126792661
|
|
|
NM_003060.4(SLC22A5):c.1482C>T (p.Leu494=)
|
rs771112492
|
|
|
NM_003060.4(SLC22A5):c.148del (p.Cys50fs)
|
rs386134227
|
|
|
NM_003060.4(SLC22A5):c.1492C>A (p.Leu498Met)
|
rs183379391
|
|
|
NM_003060.4(SLC22A5):c.1494G>A (p.Leu498=)
|
rs2126792684
|
|
|
NM_003060.4(SLC22A5):c.1497C>G (p.Thr499=)
|
|
|
|
NM_003060.4(SLC22A5):c.1500C>A (p.Ile500=)
|
rs1182348785
|
|
|
NM_003060.4(SLC22A5):c.1501C>T (p.Leu501=)
|
rs1476878301
|
|
|
NM_003060.4(SLC22A5):c.1506A>G (p.Thr502=)
|
rs2126792698
|
|
|
NM_003060.4(SLC22A5):c.150C>G (p.Cys50Trp)
|
|
|
|
NM_003060.4(SLC22A5):c.1512C>T (p.Ile504=)
|
rs2126792708
|
|
|
NM_003060.4(SLC22A5):c.1516A>T (p.Thr506Ser)
|
rs1752784173
|
|
|
NM_003060.4(SLC22A5):c.1517C>T (p.Thr506Ile)
|
rs753704081
|
|
|
NM_003060.4(SLC22A5):c.1521G>A (p.Leu507=)
|
rs778716973
|
|
|
NM_003060.4(SLC22A5):c.1522T>C (p.Phe508Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.1527C>A (p.Leu509=)
|
|
|
|
NM_003060.4(SLC22A5):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.1531G>C (p.Glu511Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.1533G>A (p.Glu511=)
|
rs748111365
|
|
|
NM_003060.4(SLC22A5):c.1536C>T (p.Ser512=)
|
|
|
|
NM_003060.4(SLC22A5):c.153G>C (p.Arg51=)
|
|
|
|
NM_003060.4(SLC22A5):c.153G>T (p.Arg51=)
|
rs1330041441
|
|
|
NM_003060.4(SLC22A5):c.1541G>A (p.Gly514Asp)
|
|
|
|
NM_003060.4(SLC22A5):c.1547C>T (p.Pro516Leu)
|
rs563142575
|
|
|
NM_003060.4(SLC22A5):c.1549C>T (p.Leu517Phe)
|
|
|
|
NM_003060.4(SLC22A5):c.1551C>G (p.Leu517=)
|
rs763424726
|
|
|
NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser)
|
rs768925240
|
|
|
NM_003060.4(SLC22A5):c.1554A>G (p.Pro518=)
|
|
|
|
NM_003060.4(SLC22A5):c.1554del (p.Asp519fs)
|
rs1554088578
|
|
|
NM_003060.4(SLC22A5):c.1562T>C (p.Ile521Thr)
|
rs1752787157
|
|
|
NM_003060.4(SLC22A5):c.1566C>T (p.Asp522=)
|
|
|
|
NM_003060.4(SLC22A5):c.1569G>A (p.Gln523=)
|
rs1462008023
|
|
|
NM_003060.4(SLC22A5):c.1581C>G (p.Val527=)
|
|
|
|
NM_003060.4(SLC22A5):c.1582A>C (p.Lys528Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.1582A>T (p.Lys528Ter)
|
|
|
|
NM_003060.4(SLC22A5):c.1586+11C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1586+12T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1586+13C>T
|
rs2126792892
|
|
|
NM_003060.4(SLC22A5):c.1586+14_1586+16del
|
|
|
|
NM_003060.4(SLC22A5):c.1586+15T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1586+19T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1586+1G>A
|
|
|
|
NM_003060.4(SLC22A5):c.1586+1G>T
|
rs386134226
|
|
|
NM_003060.4(SLC22A5):c.1586+2T>G
|
|
|
|
NM_003060.4(SLC22A5):c.1586+6A>C
|
|
|
|
NM_003060.4(SLC22A5):c.1586+9A>C
|
rs1554088592
|
|
|
NM_003060.4(SLC22A5):c.1586G>C (p.Gly529Ala)
|
rs201307440
|
|
|
NM_003060.4(SLC22A5):c.1587-11del
|
|
|
|
NM_003060.4(SLC22A5):c.1587-12T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1587-13C>T
|
|
|
|
NM_003060.4(SLC22A5):c.1587-14G>C
|
|
|
|
NM_003060.4(SLC22A5):c.1587-18T>G
|
|
|
|
NM_003060.4(SLC22A5):c.1587-4A>G
|
|
|
|
NM_003060.4(SLC22A5):c.1587-6T>C
|
|
|
|
NM_003060.4(SLC22A5):c.1587-7T>A
|
|
|
|
NM_003060.4(SLC22A5):c.1587-8T>G
|
|
|
|
NM_003060.4(SLC22A5):c.1588A>G (p.Met530Val)
|
|
|
|
NM_003060.4(SLC22A5):c.158C>T (p.Pro53Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.1594C>T (p.His532Tyr)
|
rs1752801992
|
|
|
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs)
|
rs796052040
|
|
|
NM_003060.4(SLC22A5):c.1596C>T (p.His532=)
|
rs1752802142
|
|
|
NM_003060.4(SLC22A5):c.1596_1597del (p.His532fs)
|
|
|
|
NM_003060.4(SLC22A5):c.1605T>G (p.Thr535=)
|
rs2126793211
|
|
|
NM_003060.4(SLC22A5):c.160G>A (p.Asp54Asn)
|
|
|
|
NM_003060.4(SLC22A5):c.160_166dup (p.Ala56fs)
|
rs1057516797
|
|
|
NM_003060.4(SLC22A5):c.1614C>T (p.His538=)
|
|
|
|
NM_003060.4(SLC22A5):c.1620G>A (p.Arg540=)
|
rs2126793240
|
|
|
NM_003060.4(SLC22A5):c.1624T>C (p.Leu542=)
|
rs2126793254
|
|
|
NM_003060.4(SLC22A5):c.162C>T (p.Asp54=)
|
|
|
|
NM_003060.4(SLC22A5):c.1631A>G (p.Asp544Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.1632T>C (p.Asp544=)
|
|
|
|
NM_003060.4(SLC22A5):c.1636C>T (p.Gln546Ter)
|
rs1752804300
|
|
|
NM_003060.4(SLC22A5):c.1638A>G (p.Gln546=)
|
|
|
|
NM_003060.4(SLC22A5):c.1642A>G (p.Arg548Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.1644G>A (p.Arg548=)
|
rs2126793283
|
|
|
NM_003060.4(SLC22A5):c.1653C>T (p.Ile551=)
|
rs1429160208
|
|
|
NM_003060.4(SLC22A5):c.165C>T (p.Ala55=)
|
|
|
|
NM_003060.4(SLC22A5):c.1660A>G (p.Ser554Gly)
|
rs1561577867
|
|
|
NM_003060.4(SLC22A5):c.1662C>T (p.Ser554=)
|
|
|
|
NM_003060.4(SLC22A5):c.1663A>G (p.Thr555Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.1665A>T (p.Thr555=)
|
rs1161715534
|
|
|
NM_003060.4(SLC22A5):c.1671C>T (p.Phe557=)
|
rs2126793329
|
|
|
NM_003060.4(SLC22A5):c.167C>T (p.Ala56Val)
|
rs2126765106
|
|
|
NM_003060.4(SLC22A5):c.176G>A (p.Ser59Asn)
|
rs1482607262
|
|
|
NM_003060.4(SLC22A5):c.183C>T (p.Ala61=)
|
rs1226557478
|
|
|
NM_003060.4(SLC22A5):c.187C>G (p.Arg63Gly)
|
rs1297367229
|
|
|
NM_003060.4(SLC22A5):c.194A>C (p.His65Pro)
|
|
|
|
NM_003060.4(SLC22A5):c.195C>T (p.His65=)
|
rs1751841574
|
|
|
NM_003060.4(SLC22A5):c.196A>C (p.Thr66Pro)
|
rs1476076948
|
|
|
NM_003060.4(SLC22A5):c.196A>G (p.Thr66Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.198T>C (p.Thr66=)
|
rs2126765172
|
|
|
NM_003060.4(SLC22A5):c.201C>A (p.Val67=)
|
|
|
|
NM_003060.4(SLC22A5):c.202C>T (p.Pro68Ser)
|
rs1045644394
|
|
|
NM_003060.4(SLC22A5):c.204A>G (p.Pro68=)
|
|
|
|
NM_003060.4(SLC22A5):c.205C>T (p.Leu69=)
|
rs1751843098
|
|
|
NM_003060.4(SLC22A5):c.209_240dup (p.Cys81fs)
|
|
|
|
NM_003060.4(SLC22A5):c.20_21insCCGGT (p.Thr8fs)
|
|
|
|
NM_003060.4(SLC22A5):c.210_211delinsAA (p.Leu71Met)
|
rs1751844120
|
|
|
NM_003060.4(SLC22A5):c.211C>T (p.Leu71=)
|
rs977811294
|
|
|
NM_003060.4(SLC22A5):c.212_222dup (p.Arg75fs)
|
rs1751843672
|
|
|
NM_003060.4(SLC22A5):c.215G>A (p.Arg72Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.215G>C (p.Arg72Pro)
|
rs1177265994
|
|
|
NM_003060.4(SLC22A5):c.21G>T (p.Val7=)
|
|
|
|
NM_003060.4(SLC22A5):c.228G>A (p.Glu76=)
|
|
|
|
NM_003060.4(SLC22A5):c.232C>T (p.Pro78Ser)
|
rs1485828747
|
|
|
NM_003060.4(SLC22A5):c.233C>G (p.Pro78Arg)
|
rs1751846688
|
|
|
NM_003060.4(SLC22A5):c.233C>T (p.Pro78Leu)
|
rs1751846688
|
|
|
NM_003060.4(SLC22A5):c.235del (p.His79fs)
|
rs377767447
|
|
|
NM_003060.4(SLC22A5):c.237C>A (p.His79Gln)
|
|
|
|
NM_003060.4(SLC22A5):c.23C>T (p.Thr8Ile)
|
|
|
|
NM_003060.4(SLC22A5):c.242G>A (p.Cys81Tyr)
|
rs1561560884
|
|
|
NM_003060.4(SLC22A5):c.243C>T (p.Cys81=)
|
|
|
|
NM_003060.4(SLC22A5):c.245_246delinsTT (p.Arg82Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.247C>T (p.Arg83Cys)
|
rs749499293
|
|
|
NM_003060.4(SLC22A5):c.248G>C (p.Arg83Pro)
|
rs72552726
|
|
|
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu)
|
rs72552726
|
|
|
NM_003060.4(SLC22A5):c.250T>A (p.Tyr84Asn)
|
|
|
|
NM_003060.4(SLC22A5):c.252C>T (p.Tyr84=)
|
rs1253026669
|
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
|
NM_003060.4(SLC22A5):c.258C>T (p.Leu86=)
|
rs1364454011
|
|
|
NM_003060.4(SLC22A5):c.264C>T (p.Thr88=)
|
|
|
|
NM_003060.4(SLC22A5):c.265A>G (p.Ile89Val)
|
rs765849408
|
|
|
NM_003060.4(SLC22A5):c.267C>T (p.Ile89=)
|
rs2126765387
|
|
|
NM_003060.4(SLC22A5):c.268G>T (p.Ala90Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.26C>G (p.Ala9Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.270C>T (p.Ala90=)
|
|
|
|
NM_003060.4(SLC22A5):c.272A>C (p.Asn91Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.275T>C (p.Phe92Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.279G>T (p.Ser93=)
|
|
|
|
NM_003060.4(SLC22A5):c.27C>T (p.Ala9=)
|
|
|
|
NM_003060.4(SLC22A5):c.280del (p.Ala94fs)
|
|
|
|
NM_003060.4(SLC22A5):c.283C>G (p.Leu95Val)
|
rs386134191
|
|
|
NM_003060.4(SLC22A5):c.285T>G (p.Leu95=)
|
|
|
|
NM_003060.4(SLC22A5):c.286G>A (p.Gly96Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.292G>A (p.Glu98Lys)
|
|
|
|
NM_003060.4(SLC22A5):c.295C>T (p.Pro99Ser)
|
rs2126765451
|
|
|
NM_003060.4(SLC22A5):c.296C>T (p.Pro99Leu)
|
rs2126765457
|
|
|
NM_003060.4(SLC22A5):c.29T>A (p.Phe10Tyr)
|
rs1751823291
|
|
|
NM_003060.4(SLC22A5):c.2T>C (p.Met1Thr)
|
rs1554085885
|
|
|
NM_003060.4(SLC22A5):c.300G>C (p.Gly100=)
|
|
|
|
NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)
|
|
|
|
NM_003060.4(SLC22A5):c.306C>A (p.Asp102Glu)
|
rs1751854895
|
|
|
NM_003060.4(SLC22A5):c.308T>G (p.Val103Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.313C>T (p.Leu105=)
|
rs1239293137
|
|
|
NM_003060.4(SLC22A5):c.31C>T (p.Leu11=)
|
|
|
|
NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln)
|
rs1254200528
|
|
|
NM_003060.4(SLC22A5):c.327G>C (p.Glu109Asp)
|
rs760680664
|
|
|
NM_003060.4(SLC22A5):c.328C>T (p.Gln110Ter)
|
rs2126765527
|
|
|
NM_003060.4(SLC22A5):c.32T>C (p.Leu11Pro)
|
rs1751823540
|
|
|
NM_003060.4(SLC22A5):c.330G>A (p.Gln110=)
|
|
|
|
NM_003060.4(SLC22A5):c.333G>A (p.Glu111=)
|
rs1253086449
|
|
|
NM_003060.4(SLC22A5):c.342G>A (p.Leu114=)
|
|
|
|
NM_003060.4(SLC22A5):c.344A>G (p.Asp115Gly)
|
rs386134192
|
|
|
NM_003060.4(SLC22A5):c.345T>C (p.Asp115=)
|
|
|
|
NM_003060.4(SLC22A5):c.34G>C (p.Gly12Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.350G>A (p.Trp117Ter)
|
|
|
|
NM_003060.4(SLC22A5):c.352G>T (p.Glu118Ter)
|
|
|
|
NM_003060.4(SLC22A5):c.354G>A (p.Glu118=)
|
|
|
|
NM_003060.4(SLC22A5):c.357C>T (p.Phe119=)
|
|
|
|
NM_003060.4(SLC22A5):c.35G>A (p.Gly12Asp)
|
rs886043206
|
|
|
NM_003060.4(SLC22A5):c.35_36delinsAT (p.Gly12Asp)
|
|
|
|
NM_003060.4(SLC22A5):c.360T>C (p.Ser120=)
|
rs1580868397
|
|
|
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter)
|
rs1554086010
|
|
|
NM_003060.4(SLC22A5):c.363G>A (p.Gln121=)
|
rs758991830
|
|
|
NM_003060.4(SLC22A5):c.366C>G (p.Asp122Glu)
|
rs2126765599
|
|
|
NM_003060.4(SLC22A5):c.366C>T (p.Asp122=)
|
|
|
|
NM_003060.4(SLC22A5):c.36C>T (p.Gly12=)
|
|
|
|
NM_003060.4(SLC22A5):c.372C>T (p.Tyr124=)
|
|
|
|
NM_003060.4(SLC22A5):c.373C>T (p.Leu125=)
|
|
|
|
NM_003060.4(SLC22A5):c.378C>T (p.Ser126=)
|
rs2126765624
|
|
|
NM_003060.4(SLC22A5):c.37G>A (p.Glu13Lys)
|
rs553647459
|
|
|
NM_003060.4(SLC22A5):c.37G>T (p.Glu13Ter)
|
rs553647459
|
|
|
NM_003060.4(SLC22A5):c.381C>T (p.Thr127=)
|
rs1007882103
|
|
|
NM_003060.4(SLC22A5):c.384T>C (p.Ile128=)
|
|
|
|
NM_003060.4(SLC22A5):c.387G>C (p.Val129=)
|
rs1018330141
|
|
|
NM_003060.4(SLC22A5):c.390C>T (p.Thr130=)
|
|
|
|
NM_003060.4(SLC22A5):c.393+12C>T
|
|
|
|
NM_003060.4(SLC22A5):c.393+15C>T
|
|
|
|
NM_003060.4(SLC22A5):c.393+15dup
|
|
|
|
NM_003060.4(SLC22A5):c.393+17G>T
|
|
|
|
NM_003060.4(SLC22A5):c.393+1G>A
|
rs1057517069
|
|
|
NM_003060.4(SLC22A5):c.393+7G>T
|
rs2126765681
|
|
|
NM_003060.4(SLC22A5):c.393+9C>T
|
rs1751861935
|
|
|
NM_003060.4(SLC22A5):c.394-11T>C
|
|
|
|
NM_003060.4(SLC22A5):c.394-11T>G
|
|
|
|
NM_003060.4(SLC22A5):c.394-12C>T
|
|
|
|
NM_003060.4(SLC22A5):c.394-15T>G
|
|
|
|
NM_003060.4(SLC22A5):c.394-18C>G
|
rs200136788
|
|
|
NM_003060.4(SLC22A5):c.394-1G>T
|
rs1057517106
|
|
|
NM_003060.4(SLC22A5):c.394-2A>T
|
rs377724489
|
|
|
NM_003060.4(SLC22A5):c.394-9A>G
|
|
|
|
NM_003060.4(SLC22A5):c.395G>A (p.Trp132Ter)
|
rs886041277
|
|
|
NM_003060.4(SLC22A5):c.39G>A (p.Glu13=)
|
|
|
|
NM_003060.4(SLC22A5):c.39G>C (p.Glu13Asp)
|
rs1561560357
|
|
|
NM_003060.4(SLC22A5):c.402G>A (p.Leu134=)
|
rs2126775629
|
|
|
NM_003060.4(SLC22A5):c.402G>C (p.Leu134=)
|
rs2126775629
|
|
|
NM_003060.4(SLC22A5):c.40T>A (p.Trp14Arg)
|
rs756863825
|
|
|
NM_003060.4(SLC22A5):c.412G>A (p.Asp138Asn)
|
rs534336326
|
|
|
NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr)
|
rs534336326
|
|
|
NM_003060.4(SLC22A5):c.418T>C (p.Trp140Arg)
|
rs1554086844
|
|
|
NM_003060.4(SLC22A5):c.419G>A (p.Trp140Ter)
|
rs796052039
|
|
|
NM_003060.4(SLC22A5):c.426C>G (p.Ala142=)
|
|
|
|
NM_003060.4(SLC22A5):c.427C>T (p.Pro143Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.428del (p.Pro143fs)
|
|
|
|
NM_003060.4(SLC22A5):c.42G>A (p.Trp14Ter)
|
rs796052036
|
|
|
NM_003060.4(SLC22A5):c.432C>G (p.Leu144=)
|
rs2126775698
|
|
|
NM_003060.4(SLC22A5):c.435A>G (p.Thr145=)
|
rs1752226152
|
|
|
NM_003060.4(SLC22A5):c.438C>T (p.Ile146=)
|
|
|
|
NM_003060.4(SLC22A5):c.43G>A (p.Gly15Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.442T>C (p.Leu148=)
|
rs2126775720
|
|
|
NM_003060.4(SLC22A5):c.447C>G (p.Phe149Leu)
|
rs780989844
|
|
|
NM_003060.4(SLC22A5):c.447dup (p.Phe150fs)
|
|
|
|
NM_003060.4(SLC22A5):c.449del (p.Phe150fs)
|
rs2126775742
|
|
|
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)
|
rs751129547
|
|
|
NM_003060.4(SLC22A5):c.451G>T (p.Val151Leu)
|
rs386134193
|
|
|
NM_003060.4(SLC22A5):c.453G>C (p.Val151=)
|
|
|
|
NM_003060.4(SLC22A5):c.453G>T (p.Val151=)
|
|
|
|
NM_003060.4(SLC22A5):c.455del (p.Gly152fs)
|
|
|
|
NM_003060.4(SLC22A5):c.458_459del (p.Val153fs)
|
rs386134195
|
|
|
NM_003060.4(SLC22A5):c.45G>C (p.Gly15=)
|
|
|
|
NM_003060.4(SLC22A5):c.461T>C (p.Leu154Pro)
|
rs1752227681
|
|
|
NM_003060.4(SLC22A5):c.462G>C (p.Leu154=)
|
rs771808266
|
|
|
NM_003060.4(SLC22A5):c.468C>T (p.Gly156=)
|
rs1413484773
|
|
|
NM_003060.4(SLC22A5):c.470C>T (p.Ser157Phe)
|
rs759925126
|
|
|
NM_003060.4(SLC22A5):c.474_476dup (p.Ile159dup)
|
rs2126775790
|
|
|
NM_003060.4(SLC22A5):c.479C>A (p.Ser160Ter)
|
rs2126775809
|
|
|
NM_003060.4(SLC22A5):c.480A>G (p.Ser160=)
|
|
|
|
NM_003060.4(SLC22A5):c.489G>A (p.Leu163=)
|
rs2126775815
|
|
|
NM_003060.4(SLC22A5):c.494_497del (p.Asp165fs)
|
rs2126775820
|
|
|
NM_003060.4(SLC22A5):c.497+10C>T
|
rs1019521695
|
|
|
NM_003060.4(SLC22A5):c.497+11T>C
|
rs2126775852
|
|
|
NM_003060.4(SLC22A5):c.497+12G>A
|
|
|
|
NM_003060.4(SLC22A5):c.497+19G>C
|
|
|
|
NM_003060.4(SLC22A5):c.497+1G>A
|
|
|
|
NM_003060.4(SLC22A5):c.497+1G>T
|
|
|
|
NM_003060.4(SLC22A5):c.497+2T>A
|
rs1752229268
|
|
|
NM_003060.4(SLC22A5):c.497+5G>T
|
|
|
|
NM_003060.4(SLC22A5):c.497+7T>C
|
|
|
|
NM_003060.4(SLC22A5):c.497+8G>A
|
|
|
|
NM_003060.4(SLC22A5):c.497+9T>A
|
|
|
|
NM_003060.4(SLC22A5):c.498-4C>T
|
|
|
|
NM_003060.4(SLC22A5):c.498-6T>C
|
rs2126782125
|
|
|
NM_003060.4(SLC22A5):c.4C>A (p.Arg2=)
|
|
|
|
NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)
|
rs762330138
|
|
|
NM_003060.4(SLC22A5):c.503G>A (p.Gly168Asp)
|
rs1752440697
|
|
|
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp)
|
rs121908890
|
|
|
NM_003060.4(SLC22A5):c.506G>C (p.Arg169Pro)
|
rs121908889
|
|
|
NM_003060.4(SLC22A5):c.514G>A (p.Val172Met)
|
rs558978831
|
|
|
NM_003060.4(SLC22A5):c.517C>T (p.Leu173=)
|
|
|
|
NM_003060.4(SLC22A5):c.517del (p.Leu173fs)
|
|
|
|
NM_003060.4(SLC22A5):c.518T>C (p.Leu173Pro)
|
rs1752441594
|
|
|
NM_003060.4(SLC22A5):c.528C>G (p.Thr176=)
|
|
|
|
NM_003060.4(SLC22A5):c.528C>T (p.Thr176=)
|
rs1752442501
|
|
|
NM_003060.4(SLC22A5):c.52C>G (p.Gln18Glu)
|
rs2126764773
|
|
|
NM_003060.4(SLC22A5):c.52del (p.Gln18fs)
|
rs1022453298
|
|
|
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu)
|
rs1437174685
|
|
|
NM_003060.4(SLC22A5):c.53A>G (p.Gln18Arg)
|
rs2126764776
|
|
|
NM_003060.4(SLC22A5):c.549C>T (p.Phe183=)
|
|
|
|
NM_003060.4(SLC22A5):c.556C>T (p.Leu186=)
|
rs569496252
|
|
|
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser)
|
rs1319889867
|
|
|
NM_003060.4(SLC22A5):c.55C>T (p.Arg19Cys)
|
rs1319889867
|
|
|
NM_003060.4(SLC22A5):c.561G>A (p.Gln187=)
|
|
|
|
NM_003060.4(SLC22A5):c.564C>A (p.Ile188=)
|
rs2126782265
|
|
|
NM_003060.4(SLC22A5):c.565T>C (p.Phe189Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro)
|
rs72552723
|
|
|
NM_003060.4(SLC22A5):c.56_57delinsCT (p.Arg19Pro)
|
rs1561560424
|
|
|
NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)
|
|
|
|
NM_003060.4(SLC22A5):c.576T>C (p.Asn192=)
|
|
|
|
NM_003060.4(SLC22A5):c.587_588del (p.Phe196fs)
|
rs2126782321
|
|
|
NM_003060.4(SLC22A5):c.589G>T (p.Val197Phe)
|
|
|
|
NM_003060.4(SLC22A5):c.596T>C (p.Leu199Pro)
|
rs1752446862
|
|
|
NM_003060.4(SLC22A5):c.597dup (p.Phe200fs)
|
rs1752447161
|
|
|
NM_003060.4(SLC22A5):c.600T>C (p.Phe200=)
|
rs2126782358
|
|
|
NM_003060.4(SLC22A5):c.602T>C (p.Val201Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.606T>C (p.Leu202=)
|
rs2126782367
|
|
|
NM_003060.4(SLC22A5):c.608T>C (p.Val203Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.618C>T (p.Gly206=)
|
rs1752448479
|
|
|
NM_003060.4(SLC22A5):c.620A>G (p.Gln207Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.635T>C (p.Val212Ala)
|
rs1580884645
|
|
|
NM_003060.4(SLC22A5):c.636G>A (p.Val212=)
|
|
|
|
NM_003060.4(SLC22A5):c.641C>G (p.Ala214Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
|
NM_003060.4(SLC22A5):c.642A>G (p.Ala214=)
|
rs2126782462
|
|
|
NM_003060.4(SLC22A5):c.646G>T (p.Val216Phe)
|
rs1752450375
|
|
|
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del)
|
rs377767444
|
|
|
NM_003060.4(SLC22A5):c.652+11C>G
|
rs916434461
|
|
|
NM_003060.4(SLC22A5):c.652+18G>A
|
|
|
|
NM_003060.4(SLC22A5):c.652+1G>T
|
|
|
|
NM_003060.4(SLC22A5):c.652+6=
|
rs4551059
|
|
|
NM_003060.4(SLC22A5):c.652+9A>T
|
rs2126782491
|
|
|
NM_003060.4(SLC22A5):c.653-10T>A
|
rs765335540
|
|
|
NM_003060.4(SLC22A5):c.653-10T>C
|
rs765335540
|
|
|
NM_003060.4(SLC22A5):c.653-18C>T
|
|
|
|
NM_003060.4(SLC22A5):c.653-2A>C
|
rs386134201
|
|
|
NM_003060.4(SLC22A5):c.653-2A>G
|
|
|
|
NM_003060.4(SLC22A5):c.653-7T>C
|
|
|
|
NM_003060.4(SLC22A5):c.656C>T (p.Thr219Ile)
|
rs2126783561
|
|
|
NM_003060.4(SLC22A5):c.663T>C (p.Ile221=)
|
|
|
|
NM_003060.4(SLC22A5):c.666T>A (p.Leu222=)
|
|
|
|
NM_003060.4(SLC22A5):c.66C>T (p.Phe22=)
|
|
|
|
NM_003060.4(SLC22A5):c.671A>T (p.Lys224Met)
|
|
|
|
NM_003060.4(SLC22A5):c.671del (p.Lys224fs)
|
|
|
|
NM_003060.4(SLC22A5):c.672G>A (p.Lys224=)
|
rs2126783589
|
|
|
NM_003060.4(SLC22A5):c.675A>C (p.Ser225=)
|
|
|
|
NM_003060.4(SLC22A5):c.679C>G (p.Arg227Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.680G>T (p.Arg227Leu)
|
rs185551386
|
|
|
NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.687_689del (p.Phe230del)
|
rs1173523095
|
|
|
NM_003060.4(SLC22A5):c.692C>G (p.Ser231Cys)
|
rs386134206
|
|
|
NM_003060.4(SLC22A5):c.696G>T (p.Thr232=)
|
rs748677211
|
|
|
NM_003060.4(SLC22A5):c.69_71del (p.Phe23del)
|
rs2126764814
|
|
|
NM_003060.4(SLC22A5):c.704T>C (p.Val235Ala)
|
rs796052034
|
|
|
NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly)
|
rs796052034
|
|
|
NM_003060.4(SLC22A5):c.707_708delinsTT (p.Cys236Phe)
|
rs2126783727
|
|
|
NM_003060.4(SLC22A5):c.70C>T (p.Leu24=)
|
|
|
|
NM_003060.4(SLC22A5):c.719C>T (p.Ala240Val)
|
|
|
|
NM_003060.4(SLC22A5):c.720A>G (p.Ala240=)
|
|
|
|
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val)
|
rs72552728
|
|
|
NM_003060.4(SLC22A5):c.729C>T (p.Tyr243=)
|
rs2126783776
|
|
|
NM_003060.4(SLC22A5):c.72G>C (p.Leu24=)
|
rs1225763110
|
|
|
NM_003060.4(SLC22A5):c.730A>T (p.Met244Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.733G>A (p.Val245Met)
|
|
|
|
NM_003060.4(SLC22A5):c.740C>G (p.Pro247Arg)
|
rs2126783802
|
|
|
NM_003060.4(SLC22A5):c.744G>A (p.Leu248=)
|
rs1483552442
|
|
|
NM_003060.4(SLC22A5):c.750T>G (p.Ala250=)
|
rs1561571523
|
|
|
NM_003060.4(SLC22A5):c.754T>C (p.Phe252Leu)
|
rs1317233708
|
|
|
NM_003060.4(SLC22A5):c.755del (p.Phe252fs)
|
rs1554087491
|
|
|
NM_003060.4(SLC22A5):c.756C>T (p.Phe252=)
|
rs2126783846
|
|
|
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=)
|
rs121908893
|
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
|
NM_003060.4(SLC22A5):c.765C>T (p.Asp255=)
|
|
|
|
NM_003060.4(SLC22A5):c.76A>G (p.Ser26Gly)
|
rs1751828398
|
|
|
NM_003060.4(SLC22A5):c.771G>T (p.Arg257=)
|
|
|
|
NM_003060.4(SLC22A5):c.773T>C (p.Met258Thr)
|
rs1430095203
|
|
|
NM_003060.4(SLC22A5):c.783G>A (p.Val261=)
|
rs1449646556
|
|
|
NM_003060.4(SLC22A5):c.788T>G (p.Leu263Arg)
|
rs1400244280
|
|
|
NM_003060.4(SLC22A5):c.78C>G (p.Ser26Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
|
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)
|
rs538372785
|
|
|
NM_003060.4(SLC22A5):c.79G>A (p.Ala27Thr)
|
|
|
|
NM_003060.4(SLC22A5):c.800G>A (p.Gly267Glu)
|
rs775430253
|
|
|
NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)
|
|
|
|
NM_003060.4(SLC22A5):c.802G>A (p.Val268Met)
|
|
|
|
NM_003060.4(SLC22A5):c.802del (p.Val268fs)
|
rs2126783993
|
|
|
NM_003060.4(SLC22A5):c.804G>A (p.Val268=)
|
rs2126784022
|
|
|
NM_003060.4(SLC22A5):c.804G>T (p.Val268=)
|
|
|
|
NM_003060.4(SLC22A5):c.805C>T (p.Leu269=)
|
rs2126784023
|
|
|
NM_003060.4(SLC22A5):c.815C>T (p.Ala272Val)
|
|
|
|
NM_003060.4(SLC22A5):c.816A>C (p.Ala272=)
|
|
|
|
NM_003060.4(SLC22A5):c.818T>C (p.Leu273Pro)
|
rs760320629
|
|
|
NM_003060.4(SLC22A5):c.819C>G (p.Leu273=)
|
rs1752497453
|
|
|
NM_003060.4(SLC22A5):c.81C>T (p.Ala27=)
|
|
|
|
NM_003060.4(SLC22A5):c.824+11C>A
|
rs758784226
|
|
|
NM_003060.4(SLC22A5):c.824+12C>T
|
|
|
|
NM_003060.4(SLC22A5):c.824+14T>C
|
|
|
|
NM_003060.4(SLC22A5):c.824+15G>A
|
|
|
|
NM_003060.4(SLC22A5):c.824+16T>C
|
|
|
|
NM_003060.4(SLC22A5):c.824+1G>A
|
rs1417000465
|
|
|
NM_003060.4(SLC22A5):c.824+7G>A
|
|
|
|
NM_003060.4(SLC22A5):c.824+8T>A
|
|
|
|
NM_003060.4(SLC22A5):c.824+8T>C
|
rs2126784090
|
|
|
NM_003060.4(SLC22A5):c.824+8T>G
|
rs2126784090
|
|
|
NM_003060.4(SLC22A5):c.824+9G>C
|
rs2126784095
|
|
|
NM_003060.4(SLC22A5):c.825-14C>A
|
|
|
|
NM_003060.4(SLC22A5):c.825-18T>C
|
|
|
|
NM_003060.4(SLC22A5):c.825-19T>C
|
|
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
|
|
NM_003060.4(SLC22A5):c.825-52G>A
|
rs1194929977
|
|
|
NM_003060.4(SLC22A5):c.825-5G>A
|
rs2126785864
|
|
|
NM_003060.4(SLC22A5):c.825-6T>C
|
rs1343850918
|
|
|
NM_003060.4(SLC22A5):c.825-8A>G
|
|
|
|
NM_003060.4(SLC22A5):c.825-8A>T
|
rs1752553633
|
|
|
NM_003060.4(SLC22A5):c.825-8_825-6dup
|
rs1752553572
|
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
|
NM_003060.4(SLC22A5):c.831C>T (p.Ile277=)
|
|
|
|
NM_003060.4(SLC22A5):c.833C>T (p.Pro278Leu)
|
|
|
|
NM_003060.4(SLC22A5):c.835G>T (p.Glu279Ter)
|
rs2126785892
|
|
|
NM_003060.4(SLC22A5):c.836A>T (p.Glu279Val)
|
rs2126785898
|
|
|
NM_003060.4(SLC22A5):c.839C>A (p.Ser280Tyr)
|
rs386134208
|
|
|
NM_003060.4(SLC22A5):c.83G>T (p.Ser28Ile)
|
rs72552724
|
|
|
NM_003060.4(SLC22A5):c.840C>A (p.Ser280=)
|
|
|
|
NM_003060.4(SLC22A5):c.840C>T (p.Ser280=)
|
rs1282015269
|
|
|
NM_003060.4(SLC22A5):c.843C>G (p.Pro281=)
|
rs764544978
|
|
|
NM_003060.4(SLC22A5):c.844C>G (p.Arg282Gly)
|
rs121908886
|
|
|
NM_003060.4(SLC22A5):c.844del (p.Arg282fs)
|
rs386134209
|
|
|
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)
|
rs386134209
|
|
|
NM_003060.4(SLC22A5):c.845G>C (p.Arg282Pro)
|
|
|
|
NM_003060.4(SLC22A5):c.849G>T (p.Trp283Cys)
|
rs386134211
|
|
|
NM_003060.4(SLC22A5):c.84C>A (p.Ser28Arg)
|
rs773693788
|
|
|
NM_003060.4(SLC22A5):c.854T>A (p.Ile285Asn)
|
rs1752556276
|
|
|
NM_003060.4(SLC22A5):c.856T>C (p.Ser286Pro)
|
rs1752556458
|
|
|
NM_003060.4(SLC22A5):c.860_861del (p.Gln287fs)
|
rs2126786005
|
|
|
NM_003060.4(SLC22A5):c.861G>C (p.Gln287His)
|
rs1182361371
|
|
|
NM_003060.4(SLC22A5):c.864A>G (p.Gly288=)
|
rs1416528354
|
|
|
NM_003060.4(SLC22A5):c.865C>A (p.Arg289=)
|
|
|
|
NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln)
|
rs756260416
|
|
|
NM_003060.4(SLC22A5):c.867A>G (p.Arg289=)
|
rs2126786031
|
|
|
NM_003060.4(SLC22A5):c.872A>G (p.Glu291Gly)
|
rs2126786042
|
|
|
NM_003060.4(SLC22A5):c.87C>A (p.Ile29=)
|
|
|
|
NM_003060.4(SLC22A5):c.881del (p.Glu294fs)
|
rs1554087719
|
|
|
NM_003060.4(SLC22A5):c.883G>A (p.Val295Met)
|
rs2126786073
|
|
|
NM_003060.4(SLC22A5):c.888C>G (p.Ile296Met)
|
rs2126786080
|
|
|
NM_003060.4(SLC22A5):c.891C>A (p.Ile297=)
|
rs2126786094
|
|
|
NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.893G>A (p.Arg298His)
|
rs747835354
|
|
|
NM_003060.4(SLC22A5):c.893G>T (p.Arg298Leu)
|
rs747835354
|
|
|
NM_003060.4(SLC22A5):c.894C>T (p.Arg298=)
|
|
|
|
NM_003060.4(SLC22A5):c.897G>A (p.Lys299=)
|
|
|
|
NM_003060.4(SLC22A5):c.898G>A (p.Ala300Thr)
|
rs1752558842
|
|
|
NM_003060.4(SLC22A5):c.901G>A (p.Ala301Thr)
|
rs2126786122
|
|
|
NM_003060.4(SLC22A5):c.902C>A (p.Ala301Asp)
|
rs72552730
|
|
|
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
|
|
|
|
NM_003060.4(SLC22A5):c.903C>T (p.Ala301=)
|
rs772101972
|
|
|
NM_003060.4(SLC22A5):c.90C>T (p.Ile30=)
|
|
|
|
NM_003060.4(SLC22A5):c.912T>C (p.Asn304=)
|
|
|
|
NM_003060.4(SLC22A5):c.922G>A (p.Val308Met)
|
rs1752559686
|
|
|
NM_003060.4(SLC22A5):c.924G>A (p.Val308=)
|
rs2126786151
|
|
|
NM_003060.4(SLC22A5):c.929C>T (p.Ser310Phe)
|
rs368926084
|
|
|
NM_003060.4(SLC22A5):c.92C>T (p.Pro31Leu)
|
rs2126764868
|
|
|
NM_003060.4(SLC22A5):c.930C>T (p.Ser310=)
|
|
|
|
NM_003060.4(SLC22A5):c.932C>T (p.Thr311Ile)
|
rs770408585
|
|
|
NM_003060.4(SLC22A5):c.933T>C (p.Thr311=)
|
rs2126786173
|
|
|
NM_003060.4(SLC22A5):c.939T>A (p.Phe313Leu)
|
rs1554087737
|
|
|
NM_003060.4(SLC22A5):c.945G>T (p.Pro315=)
|
rs764733247
|
|
|
NM_003060.4(SLC22A5):c.94A>G (p.Asn32Asp)
|
rs727504158
|
|
|
NM_003060.4(SLC22A5):c.951+10A>G
|
|
|
|
NM_003060.4(SLC22A5):c.951+10A>T
|
rs1752561409
|
|
|
NM_003060.4(SLC22A5):c.951+11T>C
|
|
|
|
NM_003060.4(SLC22A5):c.951+13T>G
|
rs1348881586
|
|
|
NM_003060.4(SLC22A5):c.951+14G>A
|
|
|
|
NM_003060.4(SLC22A5):c.951+15G>C
|
|
|
|
NM_003060.4(SLC22A5):c.951+18G>T
|
|
|
|
NM_003060.4(SLC22A5):c.951+20G>T
|
rs1405777934
|
|
|
NM_003060.4(SLC22A5):c.951+3A>C
|
rs2126786209
|
|
|
NM_003060.4(SLC22A5):c.951+5G>C
|
rs1752561167
|
|
|
NM_003060.4(SLC22A5):c.951+7A>C
|
|
|
|
NM_003060.4(SLC22A5):c.951+9C>T
|
|
|
|
NM_003060.4(SLC22A5):c.952-10G>A
|
|
|
|
NM_003060.4(SLC22A5):c.952-10_952-8del
|
|
|
|
NM_003060.4(SLC22A5):c.952-13G>A
|
|
|
|
NM_003060.4(SLC22A5):c.952-15_952-14insCGTATGA
|
|
|
|
NM_003060.4(SLC22A5):c.952-17T>C
|
|
|
|
NM_003060.4(SLC22A5):c.952-19T>C
|
|
|
|
NM_003060.4(SLC22A5):c.952-1G>T
|
|
|
|
NM_003060.4(SLC22A5):c.952-5_955del
|
rs2126787981
|
|
|
NM_003060.4(SLC22A5):c.95del (p.Asn32fs)
|
|
|
|
NM_003060.4(SLC22A5):c.961C>T (p.Leu321=)
|
|
|
|
NM_003060.4(SLC22A5):c.962T>G (p.Leu321Arg)
|
rs1752616522
|
|
|
NM_003060.4(SLC22A5):c.964A>G (p.Ser322Gly)
|
rs1561574065
|
|
|
NM_003060.4(SLC22A5):c.967T>C (p.Ser323Pro)
|
rs1561574073
|
|
|
NM_003060.4(SLC22A5):c.968C>T (p.Ser323Phe)
|
rs2126788019
|
|
|
NM_003060.4(SLC22A5):c.971A>G (p.Lys324Arg)
|
|
|
|
NM_003060.4(SLC22A5):c.976C>A (p.Gln326Lys)
|
rs1047810495
|
|
|
NM_003060.4(SLC22A5):c.976C>G (p.Gln326Glu)
|
rs1047810495
|
|
|
NM_003060.4(SLC22A5):c.976C>T (p.Gln326Ter)
|
rs1047810495
|
|
|
NM_003060.4(SLC22A5):c.990_1016del (p.Leu332_Ile340del)
|
rs1561574113
|
|
|
NM_003748.4(ALDH4A1):c.1005G>C (p.Gly335=)
|
rs751507625
|
|
|
NM_003748.4(ALDH4A1):c.1005G>T (p.Gly335=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1023C>T (p.Phe341=)
|
rs769491686
|
|
|
NM_003748.4(ALDH4A1):c.1048G>T (p.Ala350Ser)
|
|
|
|
NM_003748.4(ALDH4A1):c.1053C>T (p.Cys351=)
|
rs1934758933
|
|
|
NM_003748.4(ALDH4A1):c.105G>A (p.Glu35=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1060C>T (p.Leu354Phe)
|
rs766376495
|
|
|
NM_003748.4(ALDH4A1):c.1070C>T (p.Pro357Leu)
|
rs758300845
|
|
|
NM_003748.4(ALDH4A1):c.1085C>A (p.Pro362Gln)
|
|
|
|
NM_003748.4(ALDH4A1):c.1086G>A (p.Pro362=)
|
rs41310410
|
|
|
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=)
|
rs41310410
|
|
|
NM_003748.4(ALDH4A1):c.1093A>C (p.Lys365Gln)
|
rs770756077
|
|
|
NM_003748.4(ALDH4A1):c.1134C>T (p.Gly378=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1137+13G>A
|
|
|
|
NM_003748.4(ALDH4A1):c.1219G>T (p.Ala407Ser)
|
|
|
|
NM_003748.4(ALDH4A1):c.1236C>A (p.Ser412Arg)
|
|
|
|
NM_003748.4(ALDH4A1):c.1236C>G (p.Ser412Arg)
|
rs201762741
|
|
|
NM_003748.4(ALDH4A1):c.1239C>T (p.Leu413=)
|
|
|
|
NM_003748.4(ALDH4A1):c.123G>A (p.Thr41=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1265A>G (p.Asp422Gly)
|
|
|
|
NM_003748.4(ALDH4A1):c.1281C>T (p.Tyr427=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1299C>T (p.Ile433=)
|
|
|
|
NM_003748.4(ALDH4A1):c.12_17del (p.4PA[1])
|
rs768891033
|
|
|
NM_003748.4(ALDH4A1):c.1314C>A (p.Asp438Glu)
|
rs1330438587
|
|
|
NM_003748.4(ALDH4A1):c.1338+19C>T
|
|
|
|
NM_003748.4(ALDH4A1):c.1338+7G>A
|
rs2100555545
|
|
|
NM_003748.4(ALDH4A1):c.1339-12C>T
|
|
|
|
NM_003748.4(ALDH4A1):c.1348G>A (p.Gly450Arg)
|
rs1156594126
|
|
|
NM_003748.4(ALDH4A1):c.1368C>T (p.Tyr456=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1379_1380delinsGC (p.Asp460Gly)
|
|
|
|
NM_003748.4(ALDH4A1):c.1435A>T (p.Thr479Ser)
|
rs2100553228
|
|
|
NM_003748.4(ALDH4A1):c.1460+15C>T
|
rs371777923
|
|
|
NM_003748.4(ALDH4A1):c.1460+16G>C
|
|
|
|
NM_003748.4(ALDH4A1):c.1461-12T>C
|
rs2100551089
|
|
|
NM_003748.4(ALDH4A1):c.1464C>T (p.Asp488=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1479C>T (p.Ala493=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1503C>T (p.Ala501=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1504G>A (p.Gly502Ser)
|
rs766982473
|
|
|
NM_003748.4(ALDH4A1):c.1547G>A (p.Gly516Asp)
|
|
|
|
NM_003748.4(ALDH4A1):c.1551G>A (p.Gln517=)
|
|
|
|
NM_003748.4(ALDH4A1):c.156+6G>A
|
|
|
|
NM_003748.4(ALDH4A1):c.1563G>C (p.Gly521=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
|
|
|
|
NM_003748.4(ALDH4A1):c.1580-16del
|
rs767610565
|
|
|
NM_003748.4(ALDH4A1):c.1596del (p.Gly534fs)
|
rs2100546996
|
|
|
NM_003748.4(ALDH4A1):c.1602C>T (p.Gly534=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1618C>T (p.Arg540Cys)
|
|
|
|
NM_003748.4(ALDH4A1):c.1641C>T (p.Ile547=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1674C>T (p.Ser558=)
|
|
|
|
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
|
|
|
|
NM_003748.4(ALDH4A1):c.239A>G (p.Tyr80Cys)
|
|
|
|
NM_003748.4(ALDH4A1):c.298-1G>C
|
rs1557620472
|
|
|
NM_003748.4(ALDH4A1):c.341A>C (p.Lys114Thr)
|
rs1389602525
|
|
|
NM_003748.4(ALDH4A1):c.353T>C (p.Leu118Pro)
|
|
|
|
NM_003748.4(ALDH4A1):c.377A>G (p.Gln126Arg)
|
rs1935165464
|
|
|
NM_003748.4(ALDH4A1):c.385C>T (p.Leu129=)
|
rs1371117699
|
|
|
NM_003748.4(ALDH4A1):c.414G>A (p.Pro138=)
|
|
|
|
NM_003748.4(ALDH4A1):c.42C>G (p.Ser14=)
|
|
|
|
NM_003748.4(ALDH4A1):c.43C>G (p.Arg15Gly)
|
rs2100625391
|
|
|
NM_003748.4(ALDH4A1):c.43C>T (p.Arg15Cys)
|
|
|
|
NM_003748.4(ALDH4A1):c.453+16G>C
|
|
|
|
NM_003748.4(ALDH4A1):c.454-17G>A
|
|
|
|
NM_003748.4(ALDH4A1):c.479T>C (p.Ile160Thr)
|
|
|
|
NM_003748.4(ALDH4A1):c.514T>C (p.Phe172Leu)
|
|
|
|
NM_003748.4(ALDH4A1):c.561C>T (p.Ser187=)
|
|
|
|
NM_003748.4(ALDH4A1):c.596G>C (p.Gly199Ala)
|
|
|
|
NM_003748.4(ALDH4A1):c.59C>A (p.Ala20Asp)
|
rs1935834310
|
|
|
NM_003748.4(ALDH4A1):c.604-18C>T
|
|
|
|
NM_003748.4(ALDH4A1):c.615G>C (p.Ala205=)
|
|
|
|
NM_003748.4(ALDH4A1):c.645C>T (p.Ile215=)
|
|
|
|
NM_003748.4(ALDH4A1):c.684C>T (p.Asn228=)
|
|
|
|
NM_003748.4(ALDH4A1):c.693A>G (p.Leu231=)
|
rs775893554
|
|
|
NM_003748.4(ALDH4A1):c.699G>A (p.Lys233=)
|
rs1474346608
|
|
|
NM_003748.4(ALDH4A1):c.712G>A (p.Ala238Thr)
|
|
|
|
NM_003748.4(ALDH4A1):c.740G>A (p.Arg247His)
|
rs558761793
|
|
|
NM_003748.4(ALDH4A1):c.828A>T (p.Ser276=)
|
|
|
|
NM_003748.4(ALDH4A1):c.842G>T (p.Gly281Val)
|
rs1934975074
|
|
|
NM_003748.4(ALDH4A1):c.866+1G>A
|
rs78532707
|
|
|
NM_003748.4(ALDH4A1):c.88C>T (p.Leu30=)
|
|
|
|
NM_003748.4(ALDH4A1):c.903C>T (p.Asn301=)
|
|
|
|
NM_003748.4(ALDH4A1):c.940+16C>T
|
|
|
|
NM_003748.4(ALDH4A1):c.994G>A (p.Val332Met)
|
rs767652523
|
|
|
NM_003982.4(SLC7A7):c.1003T>G (p.Phe335Val)
|
rs2139387225
|
|
|
NM_003982.4(SLC7A7):c.1004T>C (p.Phe335Ser)
|
rs11568424
|
|
|
NM_003982.4(SLC7A7):c.1008T>C (p.Phe336=)
|
rs753178470
|
|
|
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp)
|
rs386833795
|
|
|
NM_003982.4(SLC7A7):c.1024G>A (p.Gly342Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.1027C>T (p.His343Tyr)
|
|
|
|
NM_003982.4(SLC7A7):c.1028_1031dup (p.Pro345fs)
|
|
|
|
NM_003982.4(SLC7A7):c.1029T>C (p.His343=)
|
rs1177228884
|
|
|
NM_003982.4(SLC7A7):c.1030C>G (p.Leu344Val)
|
|
|
|
NM_003982.4(SLC7A7):c.1032C>T (p.Leu344=)
|
rs2139387119
|
|
|
NM_003982.4(SLC7A7):c.1041C>A (p.Ala347=)
|
rs2139387078
|
|
|
NM_003982.4(SLC7A7):c.1041C>T (p.Ala347=)
|
rs2139387078
|
|
|
NM_003982.4(SLC7A7):c.1047C>T (p.Cys349=)
|
|
|
|
NM_003982.4(SLC7A7):c.1063C>A (p.Arg355=)
|
|
|
|
NM_003982.4(SLC7A7):c.1063C>T (p.Arg355Trp)
|
|
|
|
NM_003982.4(SLC7A7):c.1086G>C (p.Leu362=)
|
|
|
|
NM_003982.4(SLC7A7):c.1089C>G (p.Leu363=)
|
|
|
|
NM_003982.4(SLC7A7):c.1094A>G (p.Asn365Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.1095+13A>T
|
|
|
|
NM_003982.4(SLC7A7):c.1095+14A>G
|
rs2139386863
|
|
|
NM_003982.4(SLC7A7):c.1095+15G>C
|
|
|
|
NM_003982.4(SLC7A7):c.1095+20A>T
|
|
|
|
NM_003982.4(SLC7A7):c.1095+20del
|
|
|
|
NM_003982.4(SLC7A7):c.1095+5G>C
|
rs2038581784
|
|
|
NM_003982.4(SLC7A7):c.1095+6T>C
|
rs531862402
|
|
|
NM_003982.4(SLC7A7):c.1095+7G>C
|
|
|
|
NM_003982.4(SLC7A7):c.1095+9A>C
|
|
|
|
NM_003982.4(SLC7A7):c.1096-14G>A
|
|
|
|
NM_003982.4(SLC7A7):c.1096-17T>C
|
|
|
|
NM_003982.4(SLC7A7):c.1096-18T>C
|
rs2139384926
|
|
|
NM_003982.4(SLC7A7):c.1096-19C>G
|
rs1325229919
|
|
|
NM_003982.4(SLC7A7):c.1096-6_1096-5dup
|
rs1416844530
|
|
|
NM_003982.4(SLC7A7):c.1096-8G>C
|
rs1378166336
|
|
|
NM_003982.4(SLC7A7):c.1096G>A (p.Gly366Ser)
|
rs2038556827
|
|
|
NM_003982.4(SLC7A7):c.1098T>C (p.Gly366=)
|
|
|
|
NM_003982.4(SLC7A7):c.1098dup (p.Ile367fs)
|
|
|
|
NM_003982.4(SLC7A7):c.1103T>C (p.Met368Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.1107A>G (p.Ala369=)
|
|
|
|
NM_003982.4(SLC7A7):c.110dup (p.Ser38fs)
|
|
|
|
NM_003982.4(SLC7A7):c.1110G>A (p.Leu370=)
|
rs1267303478
|
|
|
NM_003982.4(SLC7A7):c.1110G>C (p.Leu370Phe)
|
rs1267303478
|
|
|
NM_003982.4(SLC7A7):c.1112T>C (p.Ile371Thr)
|
rs1555320506
|
|
|
NM_003982.4(SLC7A7):c.1113C>A (p.Ile371=)
|
|
|
|
NM_003982.4(SLC7A7):c.1116C>T (p.Tyr372=)
|
rs773357652
|
|
|
NM_003982.4(SLC7A7):c.111C>T (p.Ile37=)
|
|
|
|
NM_003982.4(SLC7A7):c.1122C>A (p.Cys374Ter)
|
rs771254387
|
|
|
NM_003982.4(SLC7A7):c.1130A>G (p.Asp377Gly)
|
|
|
|
NM_003982.4(SLC7A7):c.1134C>A (p.Ile378=)
|
|
|
|
NM_003982.4(SLC7A7):c.1134C>T (p.Ile378=)
|
rs1594943327
|
|
|
NM_003982.4(SLC7A7):c.1137C>T (p.Phe379=)
|
|
|
|
NM_003982.4(SLC7A7):c.1140G>A (p.Gln380=)
|
|
|
|
NM_003982.4(SLC7A7):c.114A>G (p.Ser38=)
|
rs2138663780
|
|
|
NM_003982.4(SLC7A7):c.1150T>C (p.Tyr384His)
|
rs2038553835
|
|
|
NM_003982.4(SLC7A7):c.1155C>T (p.Tyr385=)
|
rs2139384560
|
|
|
NM_003982.4(SLC7A7):c.1156A>T (p.Ser386Cys)
|
rs2038553443
|
|
|
NM_003982.4(SLC7A7):c.115C>T (p.Leu39=)
|
|
|
|
NM_003982.4(SLC7A7):c.117G>A (p.Leu39=)
|
rs2039350455
|
|
|
NM_003982.4(SLC7A7):c.1184T>C (p.Leu395Pro)
|
rs886050405
|
|
|
NM_003982.4(SLC7A7):c.1185_1188del (p.Ser396fs)
|
rs386833800
|
|
|
NM_003982.4(SLC7A7):c.118C>T (p.Leu40Phe)
|
rs2138663742
|
|
|
NM_003982.4(SLC7A7):c.1200G>A (p.Gln400=)
|
|
|
|
NM_003982.4(SLC7A7):c.1203T>G (p.Leu401=)
|
rs2139384424
|
|
|
NM_003982.4(SLC7A7):c.1206T>C (p.Tyr402=)
|
|
|
|
NM_003982.4(SLC7A7):c.1207C>T (p.Leu403=)
|
rs2139384413
|
|
|
NM_003982.4(SLC7A7):c.1208T>G (p.Leu403Arg)
|
|
|
|
NM_003982.4(SLC7A7):c.1211G>A (p.Arg404His)
|
rs201305817
|
|
|
NM_003982.4(SLC7A7):c.1215del (p.Arg404_Trp405insTer)
|
|
|
|
NM_003982.4(SLC7A7):c.1221G>A (p.Glu407=)
|
rs2139384350
|
|
|
NM_003982.4(SLC7A7):c.1224T>G (p.Pro408=)
|
|
|
|
NM_003982.4(SLC7A7):c.1225G>C (p.Asp409His)
|
rs2038550517
|
|
|
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)
|
rs121908678
|
|
|
NM_003982.4(SLC7A7):c.1235G>A (p.Arg412His)
|
|
|
|
NM_003982.4(SLC7A7):c.1239C>G (p.Pro413=)
|
rs2139384237
|
|
|
NM_003982.4(SLC7A7):c.1243A>G (p.Lys415Glu)
|
|
|
|
NM_003982.4(SLC7A7):c.1245+10C>T
|
rs531427504
|
|
|
NM_003982.4(SLC7A7):c.1245+17C>A
|
|
|
|
NM_003982.4(SLC7A7):c.1245+2T>C
|
|
|
|
NM_003982.4(SLC7A7):c.1245+6G>A
|
rs2139384181
|
|
|
NM_003982.4(SLC7A7):c.1245+9A>G
|
|
|
|
NM_003982.4(SLC7A7):c.1246-13C>T
|
rs2038543431
|
|
|
NM_003982.4(SLC7A7):c.1246-16T>C
|
|
|
|
NM_003982.4(SLC7A7):c.1246-18T>C
|
|
|
|
NM_003982.4(SLC7A7):c.1246-19_1246-18del
|
|
|
|
NM_003982.4(SLC7A7):c.1246-26_1248del
|
rs2038542991
|
|
|
NM_003982.4(SLC7A7):c.1246-6C>T
|
rs1343994057
|
|
|
NM_003982.4(SLC7A7):c.1246-7C>T
|
rs370138050
|
|
|
NM_003982.4(SLC7A7):c.1248C>G (p.Leu416=)
|
rs1266932567
|
|
|
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=)
|
rs1043886041
|
|
|
NM_003982.4(SLC7A7):c.1263G>C (p.Pro421=)
|
|
|
|
NM_003982.4(SLC7A7):c.1263_1269del (p.Ile422fs)
|
rs2139383552
|
|
|
NM_003982.4(SLC7A7):c.1265T>G (p.Ile422Ser)
|
rs2139383586
|
|
|
NM_003982.4(SLC7A7):c.1266T>C (p.Ile422=)
|
rs1594942768
|
|
|
NM_003982.4(SLC7A7):c.1266T>G (p.Ile422Met)
|
rs1594942768
|
|
|
NM_003982.4(SLC7A7):c.1269C>T (p.Val423=)
|
rs2038541659
|
|
|
NM_003982.4(SLC7A7):c.126_129del (p.Val43fs)
|
rs2039349935
|
|
|
NM_003982.4(SLC7A7):c.1271T>C (p.Phe424Ser)
|
rs2139383531
|
|
|
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg)
|
rs386833802
|
|
|
NM_003982.4(SLC7A7):c.1275C>T (p.Cys425=)
|
rs2139383501
|
|
|
NM_003982.4(SLC7A7):c.127G>A (p.Val43Met)
|
|
|
|
NM_003982.4(SLC7A7):c.1281C>A (p.Cys427Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.1282A>G (p.Thr428Ala)
|
rs1219626541
|
|
|
NM_003982.4(SLC7A7):c.1287C>A (p.Ile429=)
|
rs2139383446
|
|
|
NM_003982.4(SLC7A7):c.1288T>G (p.Phe430Val)
|
|
|
|
NM_003982.4(SLC7A7):c.1288_1307delinsATCC (p.Phe430fs)
|
|
|
|
NM_003982.4(SLC7A7):c.1290C>T (p.Phe430=)
|
rs368164901
|
|
|
NM_003982.4(SLC7A7):c.129G>A (p.Val43=)
|
rs2138663660
|
|
|
NM_003982.4(SLC7A7):c.1305A>G (p.Pro435=)
|
rs1594942680
|
|
|
NM_003982.4(SLC7A7):c.1311C>T (p.Tyr437=)
|
|
|
|
NM_003982.4(SLC7A7):c.1316A>G (p.Asp439Gly)
|
|
|
|
NM_003982.4(SLC7A7):c.1320T>C (p.Thr440=)
|
rs2139383353
|
|
|
NM_003982.4(SLC7A7):c.1321A>G (p.Ile441Val)
|
|
|
|
NM_003982.4(SLC7A7):c.1322T>G (p.Ile441Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.1323C>T (p.Ile441=)
|
|
|
|
NM_003982.4(SLC7A7):c.1330C>T (p.Leu444Phe)
|
|
|
|
NM_003982.4(SLC7A7):c.1332C>T (p.Leu444=)
|
|
|
|
NM_003982.4(SLC7A7):c.1333A>G (p.Ile445Val)
|
rs764231324
|
|
|
NM_003982.4(SLC7A7):c.1336G>A (p.Gly446Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.1341T>C (p.Ile447=)
|
|
|
|
NM_003982.4(SLC7A7):c.1344C>T (p.Ala448=)
|
rs2139383219
|
|
|
NM_003982.4(SLC7A7):c.1345A>G (p.Ile449Val)
|
|
|
|
NM_003982.4(SLC7A7):c.1350C>A (p.Ala450=)
|
|
|
|
NM_003982.4(SLC7A7):c.1350C>T (p.Ala450=)
|
rs2139383184
|
|
|
NM_003982.4(SLC7A7):c.1353C>G (p.Leu451=)
|
|
|
|
NM_003982.4(SLC7A7):c.1354_1355del (p.Ser452fs)
|
|
|
|
NM_003982.4(SLC7A7):c.1360C>T (p.Leu454=)
|
rs1594942552
|
|
|
NM_003982.4(SLC7A7):c.1362G>A (p.Leu454=)
|
|
|
|
NM_003982.4(SLC7A7):c.1374C>T (p.Phe458=)
|
rs1594942519
|
|
|
NM_003982.4(SLC7A7):c.1376TCA[2] (p.Ile461del)
|
rs759301639
|
|
|
NM_003982.4(SLC7A7):c.1376TCA[4] (p.Ile461dup)
|
rs759301639
|
|
|
NM_003982.4(SLC7A7):c.1380C>T (p.Ile460=)
|
rs139415285
|
|
|
NM_003982.4(SLC7A7):c.1388T>A (p.Val463Glu)
|
|
|
|
NM_003982.4(SLC7A7):c.1389G>A (p.Val463=)
|
|
|
|
NM_003982.4(SLC7A7):c.1392A>C (p.Pro464=)
|
|
|
|
NM_003982.4(SLC7A7):c.1392A>G (p.Pro464=)
|
|
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
|
NM_003982.4(SLC7A7):c.1400del (p.Lys467fs)
|
rs2139383000
|
|
|
NM_003982.4(SLC7A7):c.1406C>G (p.Pro469Arg)
|
|
|
|
NM_003982.4(SLC7A7):c.1414C>T (p.Leu472Phe)
|
|
|
|
NM_003982.4(SLC7A7):c.1419A>T (p.Arg473=)
|
|
|
|
NM_003982.4(SLC7A7):c.141G>C (p.Val47=)
|
|
|
|
NM_003982.4(SLC7A7):c.1424T>C (p.Ile475Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.1429+10G>A
|
|
|
|
NM_003982.4(SLC7A7):c.1429+11C>T
|
|
|
|
NM_003982.4(SLC7A7):c.1429+12A>C
|
|
|
|
NM_003982.4(SLC7A7):c.1429+15C>A
|
|
|
|
NM_003982.4(SLC7A7):c.1429+15_1429+17del
|
|
|
|
NM_003982.4(SLC7A7):c.1429+18A>C
|
rs2139382797
|
|
|
NM_003982.4(SLC7A7):c.1429+19A>G
|
|
|
|
NM_003982.4(SLC7A7):c.1429+1G>C
|
|
|
|
NM_003982.4(SLC7A7):c.1429+2T>C
|
|
|
|
NM_003982.4(SLC7A7):c.1429+8G>C
|
rs201766738
|
|
|
NM_003982.4(SLC7A7):c.1429+9T>C
|
rs2139382831
|
|
|
NM_003982.4(SLC7A7):c.1430-14dup
|
rs775214548
|
|
|
NM_003982.4(SLC7A7):c.1430-18T>C
|
rs745832658
|
|
|
NM_003982.4(SLC7A7):c.1430-20A>G
|
rs2139382380
|
|
|
NM_003982.4(SLC7A7):c.1430-8C>A
|
|
|
|
NM_003982.4(SLC7A7):c.1430-8_1430-7del
|
|
|
|
NM_003982.4(SLC7A7):c.1436C>G (p.Ala479Gly)
|
rs757095799
|
|
|
NM_003982.4(SLC7A7):c.1443G>A (p.Arg481=)
|
|
|
|
NM_003982.4(SLC7A7):c.1443G>T (p.Arg481Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.1449C>T (p.Leu483=)
|
rs760963199
|
|
|
NM_003982.4(SLC7A7):c.144G>C (p.Gly48=)
|
rs1298784269
|
|
|
NM_003982.4(SLC7A7):c.1453G>A (p.Val485Ile)
|
rs2139382220
|
|
|
NM_003982.4(SLC7A7):c.1458G>A (p.Leu486=)
|
|
|
|
NM_003982.4(SLC7A7):c.1458G>C (p.Leu486=)
|
rs1343227478
|
|
|
NM_003982.4(SLC7A7):c.1461T>C (p.Cys487=)
|
|
|
|
NM_003982.4(SLC7A7):c.1467A>T (p.Ser489=)
|
rs2139382160
|
|
|
NM_003982.4(SLC7A7):c.1476A>G (p.Ala492=)
|
rs1188919066
|
|
|
NM_003982.4(SLC7A7):c.1481T>C (p.Met494Thr)
|
rs1594941942
|
|
|
NM_003982.4(SLC7A7):c.1489G>A (p.Glu497Lys)
|
|
|
|
NM_003982.4(SLC7A7):c.1507_1517del (p.Pro503fs)
|
rs777950149
|
|
|
NM_003982.4(SLC7A7):c.1515A>G (p.Gln505=)
|
rs2139381985
|
|
|
NM_003982.4(SLC7A7):c.1516C>A (p.Arg506=)
|
rs138506427
|
|
|
NM_003982.4(SLC7A7):c.1516C>T (p.Arg506Trp)
|
|
|
|
NM_003982.4(SLC7A7):c.1520A>G (p.Asp507Gly)
|
rs1055499594
|
|
|
NM_003982.4(SLC7A7):c.1521T>C (p.Asp507=)
|
|
|
|
NM_003982.4(SLC7A7):c.1524C>G (p.Pro508=)
|
rs2139381941
|
|
|
NM_003982.4(SLC7A7):c.1533C>T (p.Asn511=)
|
|
|
|
NM_003982.4(SLC7A7):c.154G>A (p.Gly52Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.158_159delinsGA (p.Ser53Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.165C>T (p.Ile55=)
|
rs2138663461
|
|
|
NM_003982.4(SLC7A7):c.168T>C (p.Phe56=)
|
|
|
|
NM_003982.4(SLC7A7):c.16G>A (p.Glu6Lys)
|
rs2039354125
|
|
|
NM_003982.4(SLC7A7):c.171T>G (p.Val57=)
|
|
|
|
NM_003982.4(SLC7A7):c.181G>A (p.Gly61Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.187C>T (p.Leu63Phe)
|
rs2039348270
|
|
|
NM_003982.4(SLC7A7):c.18G>A (p.Glu6=)
|
|
|
|
NM_003982.4(SLC7A7):c.191T>C (p.Ile64Thr)
|
rs2138663343
|
|
|
NM_003982.4(SLC7A7):c.192A>C (p.Ile64=)
|
|
|
|
NM_003982.4(SLC7A7):c.196A>G (p.Ser66Gly)
|
|
|
|
NM_003982.4(SLC7A7):c.1A>C (p.Met1Leu)
|
rs121908676
|
|
|
NM_003982.4(SLC7A7):c.1A>G (p.Met1Val)
|
|
|
|
NM_003982.4(SLC7A7):c.201C>G (p.Ala67=)
|
rs1253918930
|
|
|
NM_003982.4(SLC7A7):c.213C>G (p.Leu71=)
|
|
|
|
NM_003982.4(SLC7A7):c.215_218del (p.Ser72fs)
|
rs386833812
|
|
|
NM_003982.4(SLC7A7):c.216T>C (p.Ser72=)
|
|
|
|
NM_003982.4(SLC7A7):c.217C>T (p.Leu73=)
|
rs2138663228
|
|
|
NM_003982.4(SLC7A7):c.21T>A (p.Tyr7Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.237G>A (p.Gly79=)
|
rs1271709166
|
|
|
NM_003982.4(SLC7A7):c.248C>A (p.Ser83Tyr)
|
|
|
|
NM_003982.4(SLC7A7):c.249C>G (p.Ser83=)
|
|
|
|
NM_003982.4(SLC7A7):c.25G>A (p.Val9Met)
|
rs1594986371
|
|
|
NM_003982.4(SLC7A7):c.267T>C (p.Cys89=)
|
rs1160975991
|
|
|
NM_003982.4(SLC7A7):c.269A>G (p.Tyr90Cys)
|
rs375791337
|
|
|
NM_003982.4(SLC7A7):c.272C>A (p.Ala91Glu)
|
rs11568438
|
|
|
NM_003982.4(SLC7A7):c.27G>A (p.Val9=)
|
|
|
|
NM_003982.4(SLC7A7):c.285C>T (p.Thr95=)
|
|
|
|
NM_003982.4(SLC7A7):c.285del (p.Thr96fs)
|
|
|
|
NM_003982.4(SLC7A7):c.286A>G (p.Thr96Ala)
|
rs1594985650
|
|
|
NM_003982.4(SLC7A7):c.293dup (p.Lys99fs)
|
rs2039344714
|
|
|
NM_003982.4(SLC7A7):c.297A>C (p.Lys99Asn)
|
rs761270703
|
|
|
NM_003982.4(SLC7A7):c.297A>G (p.Lys99=)
|
rs761270703
|
|
|
NM_003982.4(SLC7A7):c.29C>T (p.Ala10Val)
|
|
|
|
NM_003982.4(SLC7A7):c.2T>C (p.Met1Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.30C>T (p.Ala10=)
|
|
|
|
NM_003982.4(SLC7A7):c.321C>A (p.Ile107=)
|
rs1267133279
|
|
|
NM_003982.4(SLC7A7):c.321C>T (p.Ile107=)
|
rs1267133279
|
|
|
NM_003982.4(SLC7A7):c.330C>T (p.Ala110=)
|
|
|
|
NM_003982.4(SLC7A7):c.337G>A (p.Gly113Arg)
|
rs2039343325
|
|
|
NM_003982.4(SLC7A7):c.345T>C (p.Leu115=)
|
rs2039343008
|
|
|
NM_003982.4(SLC7A7):c.346_349del (p.Ala116fs)
|
|
|
|
NM_003982.4(SLC7A7):c.360_361delinsAA (p.Trp121Arg)
|
rs1064797037
|
|
|
NM_003982.4(SLC7A7):c.366C>T (p.Thr122=)
|
|
|
|
NM_003982.4(SLC7A7):c.369C>G (p.Ser123=)
|
|
|
|
NM_003982.4(SLC7A7):c.369C>T (p.Ser123=)
|
|
|
|
NM_003982.4(SLC7A7):c.371del (p.Leu124fs)
|
rs2138662323
|
|
|
NM_003982.4(SLC7A7):c.375C>G (p.Leu125=)
|
rs199724860
|
|
|
NM_003982.4(SLC7A7):c.390C>G (p.Thr130=)
|
rs1473768240
|
|
|
NM_003982.4(SLC7A7):c.390C>T (p.Thr130=)
|
rs1473768240
|
|
|
NM_003982.4(SLC7A7):c.394C>T (p.Gln132Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.399C>A (p.Ala133=)
|
rs2138662176
|
|
|
NM_003982.4(SLC7A7):c.39T>C (p.Pro13=)
|
rs200484429
|
|
|
NM_003982.4(SLC7A7):c.3G>A (p.Met1Ile)
|
|
|
|
NM_003982.4(SLC7A7):c.402C>T (p.Ile134=)
|
rs375801568
|
|
|
NM_003982.4(SLC7A7):c.40G>A (p.Glu14Lys)
|
rs2138664158
|
|
|
NM_003982.4(SLC7A7):c.411C>A (p.Ile137=)
|
|
|
|
NM_003982.4(SLC7A7):c.420C>T (p.Ala140=)
|
rs2138662044
|
|
|
NM_003982.4(SLC7A7):c.421A>T (p.Asn141Tyr)
|
|
|
|
NM_003982.4(SLC7A7):c.422A>G (p.Asn141Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.423C>T (p.Asn141=)
|
|
|
|
NM_003982.4(SLC7A7):c.426C>T (p.Tyr142=)
|
rs1386037910
|
|
|
NM_003982.4(SLC7A7):c.426_434del (p.Tyr142_Gln145delinsTer)
|
rs2039339219
|
|
|
NM_003982.4(SLC7A7):c.428T>C (p.Met143Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.42G>A (p.Glu14=)
|
|
|
|
NM_003982.4(SLC7A7):c.430G>C (p.Val144Leu)
|
|
|
|
NM_003982.4(SLC7A7):c.435G>A (p.Gln145=)
|
|
|
|
NM_003982.4(SLC7A7):c.437C>T (p.Pro146Leu)
|
rs2039338903
|
|
|
NM_003982.4(SLC7A7):c.442T>C (p.Phe148Leu)
|
rs2138661871
|
|
|
NM_003982.4(SLC7A7):c.446C>T (p.Pro149Leu)
|
rs796145994
|
|
|
NM_003982.4(SLC7A7):c.447G>C (p.Pro149=)
|
|
|
|
NM_003982.4(SLC7A7):c.447G>T (p.Pro149=)
|
|
|
|
NM_003982.4(SLC7A7):c.455dup (p.Ala153fs)
|
|
|
|
NM_003982.4(SLC7A7):c.459C>T (p.Ala153=)
|
|
|
|
NM_003982.4(SLC7A7):c.45G>T (p.Val15=)
|
|
|
|
NM_003982.4(SLC7A7):c.465T>G (p.Tyr155Ter)
|
rs1029500488
|
|
|
NM_003982.4(SLC7A7):c.468T>C (p.Ala156=)
|
rs1225448681
|
|
|
NM_003982.4(SLC7A7):c.469G>C (p.Ala157Pro)
|
rs2039337757
|
|
|
NM_003982.4(SLC7A7):c.471C>T (p.Ala157=)
|
rs2138661685
|
|
|
NM_003982.4(SLC7A7):c.472A>G (p.Ser158Gly)
|
|
|
|
NM_003982.4(SLC7A7):c.481C>T (p.Leu161=)
|
|
|
|
NM_003982.4(SLC7A7):c.483G>A (p.Leu161=)
|
|
|
|
NM_003982.4(SLC7A7):c.484_490dup (p.Ala164fs)
|
rs2039336515
|
|
|
NM_003982.4(SLC7A7):c.486T>G (p.Ala162=)
|
rs1594985030
|
|
|
NM_003982.4(SLC7A7):c.487G>T (p.Ala163Ser)
|
rs866437643
|
|
|
NM_003982.4(SLC7A7):c.499+2T>G
|
|
|
|
NM_003982.4(SLC7A7):c.499+9G>C
|
rs893853391
|
|
|
NM_003982.4(SLC7A7):c.499+9G>T
|
rs893853391
|
|
|
NM_003982.4(SLC7A7):c.500-14T>C
|
|
|
|
NM_003982.4(SLC7A7):c.500-17T>C
|
|
|
|
NM_003982.4(SLC7A7):c.500-18G>C
|
|
|
|
NM_003982.4(SLC7A7):c.500-20C>T
|
|
|
|
NM_003982.4(SLC7A7):c.500G>C (p.Cys167Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.501T>A (p.Cys167Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.504C>G (p.Leu168=)
|
|
|
|
NM_003982.4(SLC7A7):c.516del (p.Asn173fs)
|
rs2038690553
|
|
|
NM_003982.4(SLC7A7):c.519C>T (p.Asn173=)
|
rs2038690400
|
|
|
NM_003982.4(SLC7A7):c.522T>C (p.Cys174=)
|
|
|
|
NM_003982.4(SLC7A7):c.525C>T (p.Ala175=)
|
|
|
|
NM_003982.4(SLC7A7):c.528T>C (p.Tyr176=)
|
rs2139397490
|
|
|
NM_003982.4(SLC7A7):c.531C>T (p.Val177=)
|
|
|
|
NM_003982.4(SLC7A7):c.537G>A (p.Trp179Ter)
|
|
|
|
NM_003982.4(SLC7A7):c.539del (p.Gly180fs)
|
rs1414333836
|
|
|
NM_003982.4(SLC7A7):c.543C>A (p.Thr181=)
|
|
|
|
NM_003982.4(SLC7A7):c.543C>T (p.Thr181=)
|
|
|
|
NM_003982.4(SLC7A7):c.54C>T (p.Ser18=)
|
rs2138664113
|
|
|
NM_003982.4(SLC7A7):c.554A>G (p.Asp185Gly)
|
rs2139397401
|
|
|
NM_003982.4(SLC7A7):c.555T>C (p.Asp185=)
|
rs2139397395
|
|
|
NM_003982.4(SLC7A7):c.55C>A (p.Pro19Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.564C>T (p.Thr188=)
|
rs2139397358
|
|
|
NM_003982.4(SLC7A7):c.573del (p.Val192fs)
|
|
|
|
NM_003982.4(SLC7A7):c.577T>C (p.Leu193=)
|
rs770073141
|
|
|
NM_003982.4(SLC7A7):c.580G>A (p.Ala194Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=)
|
rs750720946
|
|
|
NM_003982.4(SLC7A7):c.598G>A (p.Val200Ile)
|
|
|
|
NM_003982.4(SLC7A7):c.602C>T (p.Ala201Val)
|
rs1240082554
|
|
|
NM_003982.4(SLC7A7):c.603A>G (p.Ala201=)
|
rs2139397186
|
|
|
NM_003982.4(SLC7A7):c.605G>A (p.Gly202Asp)
|
|
|
|
NM_003982.4(SLC7A7):c.606C>T (p.Gly202=)
|
|
|
|
NM_003982.4(SLC7A7):c.608_609del (p.Ile203fs)
|
rs2139397147
|
|
|
NM_003982.4(SLC7A7):c.613A>C (p.Arg205=)
|
|
|
|
NM_003982.4(SLC7A7):c.615A>G (p.Arg205=)
|
|
|
|
NM_003982.4(SLC7A7):c.616del (p.Gly207fs)
|
|
|
|
NM_003982.4(SLC7A7):c.625+12T>C
|
|
|
|
NM_003982.4(SLC7A7):c.625+17G>A
|
|
|
|
NM_003982.4(SLC7A7):c.625+18T>C
|
rs974421997
|
|
|
NM_003982.4(SLC7A7):c.625+1G>C
|
rs386833822
|
|
|
NM_003982.4(SLC7A7):c.625+1G>T
|
rs386833822
|
|
|
NM_003982.4(SLC7A7):c.625+5G>T
|
rs2038685896
|
|
|
NM_003982.4(SLC7A7):c.625+7A>G
|
|
|
|
NM_003982.4(SLC7A7):c.625+8A>G
|
|
|
|
NM_003982.4(SLC7A7):c.625+9T>C
|
|
|
|
NM_003982.4(SLC7A7):c.625+9del
|
|
|
|
NM_003982.4(SLC7A7):c.626-13T>A
|
|
|
|
NM_003982.4(SLC7A7):c.626-14T>G
|
rs2139395142
|
|
|
NM_003982.4(SLC7A7):c.626-18A>C
|
|
|
|
NM_003982.4(SLC7A7):c.626-18A>G
|
|
|
|
NM_003982.4(SLC7A7):c.626-2A>G
|
|
|
|
NM_003982.4(SLC7A7):c.626-8G>T
|
|
|
|
NM_003982.4(SLC7A7):c.627A>G (p.Gly209=)
|
|
|
|
NM_003982.4(SLC7A7):c.632C>G (p.Ser211Cys)
|
rs1022076011
|
|
|
NM_003982.4(SLC7A7):c.635_638dup (p.Phe214fs)
|
rs769721689
|
|
|
NM_003982.4(SLC7A7):c.63T>A (p.Gly21=)
|
|
|
|
NM_003982.4(SLC7A7):c.642T>C (p.Phe214=)
|
rs2139395072
|
|
|
NM_003982.4(SLC7A7):c.645G>A (p.Glu215=)
|
rs2139395059
|
|
|
NM_003982.4(SLC7A7):c.656A>T (p.Glu219Val)
|
|
|
|
NM_003982.4(SLC7A7):c.658G>C (p.Gly220Arg)
|
rs1488108533
|
|
|
NM_003982.4(SLC7A7):c.659G>A (p.Gly220Asp)
|
rs2038666045
|
|
|
NM_003982.4(SLC7A7):c.66T>C (p.Asp22=)
|
rs2138664033
|
|
|
NM_003982.4(SLC7A7):c.675G>A (p.Val225=)
|
|
|
|
NM_003982.4(SLC7A7):c.683T>C (p.Ile228Thr)
|
|
|
|
NM_003982.4(SLC7A7):c.704C>T (p.Ala235Val)
|
rs755663586
|
|
|
NM_003982.4(SLC7A7):c.708G>A (p.Leu236=)
|
|
|
|
NM_003982.4(SLC7A7):c.708G>T (p.Leu236=)
|
rs1566442536
|
|
|
NM_003982.4(SLC7A7):c.70del (p.Ala24fs)
|
|
|
|
NM_003982.4(SLC7A7):c.713C>T (p.Ser238Phe)
|
rs386833823
|
|
|
NM_003982.4(SLC7A7):c.725G>A (p.Trp242Ter)
|
rs2038664064
|
|
|
NM_003982.4(SLC7A7):c.729C>T (p.Asp243=)
|
rs2139394830
|
|
|
NM_003982.4(SLC7A7):c.735C>T (p.Leu245=)
|
rs1594948146
|
|
|
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.746C>T (p.Thr249Ile)
|
rs2139394765
|
|
|
NM_003982.4(SLC7A7):c.748G>A (p.Glu250Lys)
|
rs1225308034
|
|
|
NM_003982.4(SLC7A7):c.755T>A (p.Ile252Asn)
|
rs760849909
|
|
|
NM_003982.4(SLC7A7):c.756C>T (p.Ile252=)
|
|
|
|
NM_003982.4(SLC7A7):c.760A>C (p.Asn254His)
|
rs2038663013
|
|
|
NM_003982.4(SLC7A7):c.762T>C (p.Asn254=)
|
rs2139394710
|
|
|
NM_003982.4(SLC7A7):c.766G>T (p.Glu256Ter)
|
rs2139394686
|
|
|
NM_003982.4(SLC7A7):c.770+10G>A
|
|
|
|
NM_003982.4(SLC7A7):c.770+16C>A
|
|
|
|
NM_003982.4(SLC7A7):c.770+16C>T
|
|
|
|
NM_003982.4(SLC7A7):c.770+19_770+26del
|
|
|
|
NM_003982.4(SLC7A7):c.770+19dup
|
|
|
|
NM_003982.4(SLC7A7):c.770+1G>A
|
|
|
|
NM_003982.4(SLC7A7):c.770+1G>T
|
rs1264298481
|
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
|
NM_003982.4(SLC7A7):c.770+9T>G
|
rs2038662345
|
|
|
NM_003982.4(SLC7A7):c.771-10T>C
|
|
|
|
NM_003982.4(SLC7A7):c.771-11T>A
|
|
|
|
NM_003982.4(SLC7A7):c.771-11T>C
|
|
|
|
NM_003982.4(SLC7A7):c.771-15T>G
|
|
|
|
NM_003982.4(SLC7A7):c.771-18del
|
|
|
|
NM_003982.4(SLC7A7):c.775C>T (p.Leu259=)
|
|
|
|
NM_003982.4(SLC7A7):c.777G>T (p.Leu259=)
|
|
|
|
NM_003982.4(SLC7A7):c.779C>T (p.Pro260Leu)
|
|
|
|
NM_003982.4(SLC7A7):c.781C>T (p.Leu261Phe)
|
rs2038606088
|
|
|
NM_003982.4(SLC7A7):c.783C>T (p.Leu261=)
|
|
|
|
NM_003982.4(SLC7A7):c.798C>G (p.Ser266=)
|
rs2139389185
|
|
|
NM_003982.4(SLC7A7):c.804C>T (p.Pro268=)
|
|
|
|
NM_003982.4(SLC7A7):c.805A>G (p.Ile269Val)
|
|
|
|
NM_003982.4(SLC7A7):c.807T>C (p.Ile269=)
|
|
|
|
NM_003982.4(SLC7A7):c.813C>A (p.Thr271=)
|
rs2139389124
|
|
|
NM_003982.4(SLC7A7):c.816_822del (p.Ile273fs)
|
|
|
|
NM_003982.4(SLC7A7):c.81G>A (p.Gly27=)
|
|
|
|
NM_003982.4(SLC7A7):c.822T>C (p.Tyr274=)
|
|
|
|
NM_003982.4(SLC7A7):c.825C>T (p.Ile275=)
|
rs2139389052
|
|
|
NM_003982.4(SLC7A7):c.828G>A (p.Leu276=)
|
|
|
|
NM_003982.4(SLC7A7):c.831C>G (p.Thr277=)
|
|
|
|
NM_003982.4(SLC7A7):c.833A>T (p.Asn278Ile)
|
|
|
|
NM_003982.4(SLC7A7):c.834T>C (p.Asn278=)
|
|
|
|
NM_003982.4(SLC7A7):c.837G>A (p.Val279=)
|
|
|
|
NM_003982.4(SLC7A7):c.83C>T (p.Pro28Leu)
|
|
|
|
NM_003982.4(SLC7A7):c.841T>C (p.Tyr281His)
|
rs2139388993
|
|
|
NM_003982.4(SLC7A7):c.844T>C (p.Tyr282His)
|
|
|
|
NM_003982.4(SLC7A7):c.846T>C (p.Tyr282=)
|
rs2038603917
|
|
|
NM_003982.4(SLC7A7):c.852G>A (p.Val284=)
|
rs1351778419
|
|
|
NM_003982.4(SLC7A7):c.854T>C (p.Leu285Pro)
|
|
|
|
NM_003982.4(SLC7A7):c.861G>A (p.Met287Ile)
|
|
|
|
NM_003982.4(SLC7A7):c.883G>C (p.Ala295Pro)
|
rs765772581
|
|
|
NM_003982.4(SLC7A7):c.886G>A (p.Val296Ile)
|
|
|
|
NM_003982.4(SLC7A7):c.888T>C (p.Val296=)
|
|
|
|
NM_003982.4(SLC7A7):c.889dup (p.Ala297fs)
|
rs2139388749
|
|
|
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)
|
rs2138663895
|
|
|
NM_003982.4(SLC7A7):c.891T>C (p.Ala297=)
|
|
|
|
NM_003982.4(SLC7A7):c.894+15C>T
|
|
|
|
NM_003982.4(SLC7A7):c.894+19C>T
|
|
|
|
NM_003982.4(SLC7A7):c.894+1G>C
|
|
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
|
NM_003982.4(SLC7A7):c.894+8A>G
|
|
|
|
NM_003982.4(SLC7A7):c.895-14T>C
|
|
|
|
NM_003982.4(SLC7A7):c.895-15A>G
|
|
|
|
NM_003982.4(SLC7A7):c.895-20_895-19del
|
|
|
|
NM_003982.4(SLC7A7):c.895-2A>G
|
rs146582474
|
|
|
NM_003982.4(SLC7A7):c.895-2_895delinsCCATT
|
rs1594944871
|
|
|
NM_003982.4(SLC7A7):c.895-6C>T
|
|
|
|
NM_003982.4(SLC7A7):c.895-7C>G
|
|
|
|
NM_003982.4(SLC7A7):c.896C>G (p.Thr299Ser)
|
rs1409622896
|
|
|
NM_003982.4(SLC7A7):c.911T>A (p.Ile304Lys)
|
rs1277218486
|
|
|
NM_003982.4(SLC7A7):c.928T>A (p.Trp310Arg)
|
|
|
|
NM_003982.4(SLC7A7):c.930G>A (p.Trp310Ter)
|
rs2038594225
|
|
|
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val)
|
rs539843065
|
|
|
NM_003982.4(SLC7A7):c.936T>A (p.Ile312=)
|
|
|
|
NM_003982.4(SLC7A7):c.940C>T (p.Leu314=)
|
|
|
|
NM_003982.4(SLC7A7):c.949del (p.Ala317fs)
|
rs2139387978
|
|
|
NM_003982.4(SLC7A7):c.956C>T (p.Ser319Phe)
|
rs1156861166
|
|
|
NM_003982.4(SLC7A7):c.963T>C (p.Phe321=)
|
|
|
|
NM_003982.4(SLC7A7):c.966T>G (p.Gly322=)
|
rs780862401
|
|
|
NM_003982.4(SLC7A7):c.970_989del (p.Leu324fs)
|
|
|
|
NM_003982.4(SLC7A7):c.974A>G (p.Asn325Ser)
|
|
|
|
NM_003982.4(SLC7A7):c.975T>C (p.Asn325=)
|
rs2038593013
|
|
|
NM_003982.4(SLC7A7):c.984T>A (p.Ile328=)
|
|
|
|
NM_003982.4(SLC7A7):c.98T>A (p.Leu33Gln)
|
|
|
|
NM_003982.4(SLC7A7):c.98T>C (p.Leu33Pro)
|
rs1040738469
|
|
|
NM_003982.4(SLC7A7):c.993T>C (p.Ala331=)
|
|
|
|
NM_003982.4(SLC7A7):c.998+10G>A
|
|
|
|
NM_003982.4(SLC7A7):c.998+10G>T
|
|
|
|
NM_003982.4(SLC7A7):c.998+11C>T
|
|
|
|
NM_003982.4(SLC7A7):c.998+13A>C
|
|
|
|
NM_003982.4(SLC7A7):c.998+13A>T
|
|
|
|
NM_003982.4(SLC7A7):c.998+15T>A
|
|
|
|
NM_003982.4(SLC7A7):c.998+16T>C
|
|
|
|
NM_003982.4(SLC7A7):c.998+19G>C
|
|
|
|
NM_003982.4(SLC7A7):c.998+1G>T
|
rs386833828
|
|
|
NM_003982.4(SLC7A7):c.998+5G>A
|
rs554612459
|
|
|
NM_003982.4(SLC7A7):c.998+7G>C
|
|
|
|
NM_003982.4(SLC7A7):c.998+8T>C
|
|
|
|
NM_003982.4(SLC7A7):c.998+9G>A
|
rs1350841635
|
|
|
NM_003982.4(SLC7A7):c.998G>T (p.Arg333Met)
|
rs386833829
|
|
|
NM_003982.4(SLC7A7):c.999-10C>T
|
|
|
|
NM_003982.4(SLC7A7):c.999-14C>G
|
|
|
|
NM_003982.4(SLC7A7):c.999-16A>G
|
rs1594944509
|
|
|
NM_003982.4(SLC7A7):c.999-19C>G
|
|
|
|
NM_003982.4(SLC7A7):c.999-19C>T
|
|
|
|
NM_003982.4(SLC7A7):c.999-4A>G
|
|
|
|
NM_003982.4(SLC7A7):c.999-5C>T
|
rs2139387275
|
|
|
NM_004160.6(PYY):c.-463+2753G>A
|
|
|
|
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
|
|
|
|
NM_004408.4(DNM1):c.1020T>C (p.Phe340=)
|
rs2131173713
|
|
|
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
|
|
|
|
NM_004408.4(DNM1):c.1028G>A (p.Arg343His)
|
|
|
|
NM_004408.4(DNM1):c.1035G>A (p.Glu345=)
|
|
|
|
NM_004408.4(DNM1):c.1047T>G (p.Asp349Glu)
|
rs1247861339
|
|
|
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn)
|
rs148695604
|
|
|
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
|
|
|
|
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)
|
rs1554774587
|
|
|
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
|
rs1835085971
|
|
|
NM_004408.4(DNM1):c.1089C>T (p.Asn363=)
|
rs1377650055
|
|
|
NM_004408.4(DNM1):c.108G>T (p.Val36=)
|
|
|
|
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
|
|
|
|
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys)
|
rs1835087040
|
|
|
NM_004408.4(DNM1):c.1104G>A (p.Glu368=)
|
|
|
|
NM_004408.4(DNM1):c.1123G>A (p.Val375Ile)
|
rs2131174031
|
|
|
NM_004408.4(DNM1):c.1125C>A (p.Val375=)
|
rs760118978
|
|
|
NM_004408.4(DNM1):c.1128+12A>C
|
|
|
|
NM_004408.4(DNM1):c.1128+4G>A
|
rs768339660
|
|
|
NM_004408.4(DNM1):c.1129-18C>A
|
|
|
|
NM_004408.4(DNM1):c.1129-9del
|
rs2131174977
|
|
|
NM_004408.4(DNM1):c.1134G>A (p.Glu378=)
|
rs1365194190
|
|
|
NM_004408.4(DNM1):c.1140T>C (p.Asp380=)
|
|
|
|
NM_004408.4(DNM1):c.114C>A (p.Gly38=)
|
|
|
|
NM_004408.4(DNM1):c.114C>T (p.Gly38=)
|
rs1326366504
|
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
|
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln)
|
rs1428107171
|
|
|
NM_004408.4(DNM1):c.1180A>C (p.Asn394His)
|
rs1835103161
|
|
|
NM_004408.4(DNM1):c.1182T>C (p.Asn394=)
|
rs1171703565
|
|
|
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter)
|
rs2131175203
|
|
|
NM_004408.4(DNM1):c.1196+14C>A
|
|
|
|
NM_004408.4(DNM1):c.1196+16T>C
|
|
|
|
NM_004408.4(DNM1):c.1196+17G>A
|
|
|
|
NM_004408.4(DNM1):c.1196+5G>A
|
rs1835103921
|
|
|
NM_004408.4(DNM1):c.1196+7A>C
|
rs955349107
|
|
|
NM_004408.4(DNM1):c.1196+7A>T
|
|
|
|
NM_004408.4(DNM1):c.1196+8T>C
|
rs1588370851
|
|
|
NM_004408.4(DNM1):c.1197-10G>A
|
|
|
|
NM_004408.4(DNM1):c.1197-14C>T
|
|
|
|
NM_004408.4(DNM1):c.1197-16C>G
|
|
|
|
NM_004408.4(DNM1):c.1197-7C>A
|
rs41306488
|
|
|
NM_004408.4(DNM1):c.11G>A (p.Arg4His)
|
|
|
|
NM_004408.4(DNM1):c.1206G>A (p.Leu402=)
|
rs754423616
|
|
|
NM_004408.4(DNM1):c.1226T>C (p.Phe409Ser)
|
rs2131181546
|
|
|
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu)
|
rs866836375
|
|
|
NM_004408.4(DNM1):c.1257G>A (p.Lys419=)
|
rs2131181635
|
|
|
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
|
|
|
|
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)
|
rs1833622746
|
|
|
NM_004408.4(DNM1):c.1299G>A (p.Ser433=)
|
|
|
|
NM_004408.4(DNM1):c.1303C>T (p.Leu435=)
|
|
|
|
NM_004408.4(DNM1):c.1329C>G (p.Thr443=)
|
rs2131181922
|
|
|
NM_004408.4(DNM1):c.1335+13C>T
|
|
|
|
NM_004408.4(DNM1):c.1335+14C>T
|
|
|
|
NM_004408.4(DNM1):c.1335+15C>G
|
|
|
|
NM_004408.4(DNM1):c.1335+15C>T
|
rs779719063
|
|
|
NM_004408.4(DNM1):c.1335+16G>T
|
rs768442528
|
|
|
NM_004408.4(DNM1):c.1336-18C>T
|
|
|
|
NM_004408.4(DNM1):c.1336-6C>T
|
rs1400533057
|
|
|
NM_004408.4(DNM1):c.1336-7T>A
|
rs550764968
|
|
|
NM_004408.4(DNM1):c.1336-7T>G
|
rs550764968
|
|
|
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
|
|
|
|
NM_004408.4(DNM1):c.1344G>A (p.Gln448=)
|
rs1352962318
|
|
|
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His)
|
rs1835857400
|
|
|
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)
|
rs1554767317
|
|
|
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
|
|
|
|
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
|
|
|
|
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp)
|
rs368427334
|
|
|
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu)
|
rs750296552
|
|
|
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp)
|
rs1835858946
|
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
|
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
|
|
|
|
NM_004408.4(DNM1):c.1375A>G (p.Ile459Val)
|
rs2131227049
|
|
|
NM_004408.4(DNM1):c.1377C>T (p.Ile459=)
|
rs756256016
|
|
|
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
|
|
|
|
NM_004408.4(DNM1):c.138G>A (p.Ser46=)
|
rs781131754
|
|
|
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp)
|
rs772264918
|
|
|
NM_004408.4(DNM1):c.139G>A (p.Val47Met)
|
rs869312702
|
|
|
NM_004408.4(DNM1):c.13G>A (p.Gly5Ser)
|
rs759483040
|
|
|
NM_004408.4(DNM1):c.1401C>A (p.Arg467=)
|
|
|
|
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
|
|
|
|
NM_004408.4(DNM1):c.1416G>A (p.Lys472=)
|
rs1835861637
|
|
|
NM_004408.4(DNM1):c.1422+13G>A
|
|
|
|
NM_004408.4(DNM1):c.1422+19G>A
|
rs1440002003
|
|
|
NM_004408.4(DNM1):c.1422+19G>T
|
|
|
|
NM_004408.4(DNM1):c.1422+5del
|
|
|
|
NM_004408.4(DNM1):c.1422+6_1422+83dup
|
|
|
|
NM_004408.4(DNM1):c.1422+8C>T
|
|
|
|
NM_004408.4(DNM1):c.1423-16C>T
|
|
|
|
NM_004408.4(DNM1):c.1423-16del
|
|
|
|
NM_004408.4(DNM1):c.1423-17C>T
|
|
|
|
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
|
|
|
|
NM_004408.4(DNM1):c.1427T>C (p.Met476Thr)
|
rs2131251361
|
|
|
NM_004408.4(DNM1):c.1461C>T (p.Asn487=)
|
rs1318922555
|
|
|
NM_004408.4(DNM1):c.1462A>G (p.Thr488Ala)
|
rs2131251443
|
|
|
NM_004408.4(DNM1):c.1493+14del
|
rs371426966
|
|
|
NM_004408.4(DNM1):c.1493+17G>A
|
|
|
|
NM_004408.4(DNM1):c.1493+20A>G
|
|
|
|
NM_004408.4(DNM1):c.1493+3G>C
|
|
|
|
NM_004408.4(DNM1):c.1493+7G>A
|
|
|
|
NM_004408.4(DNM1):c.1494-11C>T
|
|
|
|
NM_004408.4(DNM1):c.1494-5A>G
|
rs1836247500
|
|
|
NM_004408.4(DNM1):c.1512C>T (p.Asn504=)
|
|
|
|
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
|
|
|
|
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del)
|
rs763633863
|
|
|
NM_004408.4(DNM1):c.152T>C (p.Phe51Ser)
|
rs2131061694
|
|
|
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu)
|
rs867314420
|
|
|
NM_004408.4(DNM1):c.1545+18C>A
|
|
|
|
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
|
|
|
|
NM_004408.4(DNM1):c.1557+1G>C
|
rs1230944082
|
|
|
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
|
|
|
|
NM_004408.4(DNM1):c.1558-13C>T
|
rs2131262430
|
|
|
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
|
|
|
|
NM_004408.4(DNM1):c.1566C>T (p.Arg522=)
|
|
|
|
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
|
|
|
|
NM_004408.4(DNM1):c.161+14G>A
|
|
|
|
NM_004408.4(DNM1):c.161+5_161+6delinsTT
|
|
|
|
NM_004408.4(DNM1):c.161+8C>T
|
|
|
|
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu)
|
rs1554781553
|
|
|
NM_004408.4(DNM1):c.162-8C>T
|
rs1205557529
|
|
|
NM_004408.4(DNM1):c.162-9T>G
|
rs920593927
|
|
|
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
|
|
|
|
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
|
|
|
|
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser)
|
rs2131262599
|
|
|
NM_004408.4(DNM1):c.1665T>C (p.Asp555=)
|
|
|
|
NM_004408.4(DNM1):c.1671+7C>G
|
|
|
|
NM_004408.4(DNM1):c.1671+7C>T
|
|
|
|
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
|
|
|
|
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
|
|
|
|
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu)
|
rs2131283540
|
|
|
NM_004408.4(DNM1):c.1698T>C (p.Ser566=)
|
rs749674787
|
|
|
NM_004408.4(DNM1):c.1714C>T (p.Leu572=)
|
rs2131283571
|
|
|
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
|
|
|
|
NM_004408.4(DNM1):c.1723G>A (p.Val575Met)
|
rs748647924
|
|
|
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys)
|
rs2131283599
|
|
|
NM_004408.4(DNM1):c.1761C>T (p.Ala587=)
|
|
|
|
NM_004408.4(DNM1):c.176G>A (p.Arg59Gln)
|
|
|
|
NM_004408.4(DNM1):c.1781+16del
|
|
|
|
NM_004408.4(DNM1):c.1781+18G>C
|
|
|
|
NM_004408.4(DNM1):c.1781+4C>A
|
|
|
|
NM_004408.4(DNM1):c.1781+5C>T
|
rs1836821115
|
|
|
NM_004408.4(DNM1):c.1781+9C>T
|
|
|
|
NM_004408.4(DNM1):c.1782-13C>T
|
|
|
|
NM_004408.4(DNM1):c.1782-3C>T
|
|
|
|
NM_004408.4(DNM1):c.1782-8T>C
|
|
|
|
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile)
|
rs1588449769
|
|
|
NM_004408.4(DNM1):c.1807C>T (p.Leu603=)
|
|
|
|
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
|
rs1588449811
|
|
|
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg)
|
rs1564352065
|
|
|
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
|
|
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
|
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
|
|
|
|
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile)
|
rs1836896799
|
|
|
NM_004408.4(DNM1):c.1893+7G>T
|
rs1157263142
|
|
|
NM_004408.4(DNM1):c.1894-10G>A
|
|
|
|
NM_004408.4(DNM1):c.1894-8C>T
|
rs912124924
|
|
|
NM_004408.4(DNM1):c.1905+9G>T
|
rs2131289646
|
|
|
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
|
|
|
|
NM_004408.4(DNM1):c.1906-12T>C
|
|
|
|
NM_004408.4(DNM1):c.1906-3C>T
|
|
|
|
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
|
|
|
|
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del)
|
rs748362979
|
|
|
NM_004408.4(DNM1):c.1920G>A (p.Glu640=)
|
rs1554784647
|
|
|
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp)
|
rs763245663
|
|
|
NM_004408.4(DNM1):c.1935C>T (p.Asp645=)
|
|
|
|
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
|
|
|
|
NM_004408.4(DNM1):c.1969C>A (p.Arg657=)
|
rs2131291997
|
|
|
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
|
|
|
|
NM_004408.4(DNM1):c.1983C>T (p.Thr661=)
|
|
|
|
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
|
|
|
|
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr)
|
rs1437208936
|
|
|
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
|
|
|
|
NM_004408.4(DNM1):c.2022C>T (p.Asn674=)
|
|
|
|
NM_004408.4(DNM1):c.2028C>G (p.Thr676=)
|
rs1339784958
|
|
|
NM_004408.4(DNM1):c.2028C>T (p.Thr676=)
|
rs1339784958
|
|
|
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
|
|
|
|
NM_004408.4(DNM1):c.2031G>A (p.Val677=)
|
rs1441521036
|
|
|
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
|
|
|
|
NM_004408.4(DNM1):c.2055C>A (p.Ile685=)
|
|
|
|
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
|
|
|
|
NM_004408.4(DNM1):c.2061C>T (p.His687=)
|
rs1026710429
|
|
|
NM_004408.4(DNM1):c.2076+23del
|
rs1237872802
|
|
|
NM_004408.4(DNM1):c.2077-16C>T
|
|
|
|
NM_004408.4(DNM1):c.2077-5C>G
|
|
|
|
NM_004408.4(DNM1):c.2077-8A>G
|
|
|
|
NM_004408.4(DNM1):c.2082G>A (p.Lys694=)
|
rs1284689897
|
|
|
NM_004408.4(DNM1):c.208G>A (p.Val70Ile)
|
|
|
|
NM_004408.4(DNM1):c.2106G>C (p.Leu702=)
|
|
|
|
NM_004408.4(DNM1):c.2121G>A (p.Ser707=)
|
|
|
|
NM_004408.4(DNM1):c.2128G>C (p.Asp710His)
|
rs2131297334
|
|
|
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
|
|
|
|
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly)
|
rs1432815882
|
|
|
NM_004408.4(DNM1):c.2157G>C (p.Ala719=)
|
|
|
|
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly)
|
rs1588457823
|
|
|
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
|
|
|
|
NM_004408.4(DNM1):c.216G>A (p.Gln72=)
|
rs781185286
|
|
|
NM_004408.4(DNM1):c.2170C>A (p.Arg724=)
|
rs1386035686
|
|
|
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
|
|
|
|
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
|
rs1829428293
|
|
|
NM_004408.4(DNM1):c.2178C>T (p.Asp726=)
|
|
|
|
NM_004408.4(DNM1):c.2187G>A (p.Leu729=)
|
rs749382749
|
|
|
NM_004408.4(DNM1):c.2190C>T (p.Arg730=)
|
|
|
|
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
|
|
|
|
NM_004408.4(DNM1):c.2208G>A (p.Lys736=)
|
rs1829430358
|
|
|
NM_004408.4(DNM1):c.2211G>A (p.Glu737=)
|
|
|
|
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys)
|
rs1829432262
|
|
|
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
|
|
|
|
NM_004408.4(DNM1):c.2241G>C (p.Thr747=)
|
rs1184149576
|
|
|
NM_004408.4(DNM1):c.2241G>T (p.Thr747=)
|
|
|
|
NM_004408.4(DNM1):c.224A>T (p.Asn75Ile)
|
|
|
|
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
|
|
|
|
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
|
rs754280238
|
|
|
NM_004408.4(DNM1):c.2261T>C (p.Met754Thr)
|
|
|
|
NM_004408.4(DNM1):c.2271C>G (p.Pro757=)
|
rs762520472
|
|
|
NM_004408.4(DNM1):c.2271C>T (p.Pro757=)
|
rs762520472
|
|
|
NM_004408.4(DNM1):c.2289G>T (p.Leu763=)
|
rs1393047937
|
|
|
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter)
|
rs1829434336
|
|
|
NM_004408.4(DNM1):c.2299dup (p.Ser767fs)
|
rs2131297826
|
|
|
NM_004408.4(DNM1):c.2306C>G (p.Pro769Arg)
|
|
|
|
NM_004408.4(DNM1):c.2318+14C>A
|
rs1251375115
|
|
|
NM_004408.4(DNM1):c.2319-5C>G
|
rs947802436
|
|
|
NM_004408.4(DNM1):c.2319-5C>T
|
|
|
|
NM_004408.4(DNM1):c.2319-8G>A
|
|
|
|
NM_004408.4(DNM1):c.2319-9C>T
|
|
|
|
NM_004408.4(DNM1):c.2327C>A (p.Thr776Lys)
|
rs1490577876
|
|
|
NM_004408.4(DNM1):c.233C>A (p.Thr78Lys)
|
|
|
|
NM_004408.4(DNM1):c.2340G>A (p.Thr780=)
|
|
|
|
NM_004408.4(DNM1):c.235+18C>T
|
|
|
|
NM_004408.4(DNM1):c.235+9C>T
|
rs1834733486
|
|
|
NM_004408.4(DNM1):c.2350C>G (p.Arg784Gly)
|
|
|
|
NM_004408.4(DNM1):c.2354C>T (p.Ala785Val)
|
|
|
|
NM_004408.4(DNM1):c.2356C>A (p.Pro786Thr)
|
rs2131299453
|
|
|
NM_004408.4(DNM1):c.2359G>A (p.Ala787Thr)
|
rs1286706539
|
|
|
NM_004408.4(DNM1):c.236-17G>T
|
|
|
|
NM_004408.4(DNM1):c.236-2A>C
|
|
|
|
NM_004408.4(DNM1):c.2375_2393del (p.Arg792fs)
|
|
|
|
NM_004408.4(DNM1):c.2385G>A (p.Ser795=)
|
|
|
|
NM_004408.4(DNM1):c.2389G>A (p.Gly797Ser)
|
rs1259228242
|
|
|
NM_004408.4(DNM1):c.2390G>T (p.Gly797Val)
|
rs1486970211
|
|
|
NM_004408.4(DNM1):c.2391C>G (p.Gly797=)
|
rs1057521943
|
|
|
NM_004408.4(DNM1):c.2391C>T (p.Gly797=)
|
rs1057521943
|
|
|
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
|
|
|
|
NM_004408.4(DNM1):c.2401G>A (p.Gly801Arg)
|
|
|
|
NM_004408.4(DNM1):c.2405C>T (p.Pro802Leu)
|
rs1829472592
|
|
|
NM_004408.4(DNM1):c.2427G>C (p.Leu809=)
|
rs897409469
|
|
|
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)
|
rs888747029
|
|
|
NM_004408.4(DNM1):c.2430G>C (p.Gly810=)
|
|
|
|
NM_004408.4(DNM1):c.2434G>A (p.Ala812Thr)
|
|
|
|
NM_004408.4(DNM1):c.2434dup (p.Ala812fs)
|
rs747024881
|
|
|
NM_004408.4(DNM1):c.243C>A (p.Ala81=)
|
|
|
|
NM_004408.4(DNM1):c.2445G>T (p.Val815=)
|
|
|
|
NM_004408.4(DNM1):c.2455C>A (p.Pro819Thr)
|
|
|
|
NM_004408.4(DNM1):c.2466C>A (p.Ser822=)
|
|
|
|
NM_004408.4(DNM1):c.2467C>G (p.Pro823Ala)
|
rs2131299716
|
|
|
NM_004408.4(DNM1):c.2467C>T (p.Pro823Ser)
|
rs2131299716
|
|
|
NM_004408.4(DNM1):c.2469T>G (p.Pro823=)
|
|
|
|
NM_004408.4(DNM1):c.246G>A (p.Glu82=)
|
|
|
|
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu)
|
rs1295591580
|
|
|
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu)
|
rs901408697
|
|
|
NM_004408.4(DNM1):c.2484T>A (p.Pro828=)
|
rs888550421
|
|
|
NM_004408.4(DNM1):c.2486C>T (p.Pro829Leu)
|
|
|
|
NM_004408.4(DNM1):c.2496G>A (p.Val832=)
|
rs2131299802
|
|
|
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
|
|
|
|
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
|
|
|
|
NM_004408.4(DNM1):c.2526G>T (p.Gly842=)
|
rs1390465556
|
|
|
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg)
|
rs1564355393
|
|
|
NM_004408.4(DNM1):c.2534+1dup
|
|
|
|
NM_004408.4(DNM1):c.2534+7A>G
|
|
|
|
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn)
|
rs1829479381
|
|
|
NM_004408.4(DNM1):c.2535-17T>C
|
|
|
|
NM_004408.4(DNM1):c.2535-1G>A
|
|
|
|
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro)
|
rs758567328
|
|
|
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
|
|
|
|
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
|
|
|
|
NM_004408.4(DNM1):c.2541G>T (p.Ser847=)
|
|
|
|
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
|
|
|
|
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup)
|
rs1564358652
|
|
|
NM_004408.4(DNM1):c.2544T>G (p.Gly848=)
|
|
|
|
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
|
|
|
|
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
|
|
|
|
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
|
|
|
|
NM_004408.4(DNM1):c.2582C>G (p.Pro861Arg)
|
rs187315526
|
|
|
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu)
|
rs187315526
|
|
|
NM_004408.4(DNM1):c.2583dup (p.Phe862fs)
|
rs1244967245
|
|
|
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val)
|
rs2131314418
|
|
|
NM_004408.4(DNM1):c.2592C>T (p.Leu864=)
|
rs2131314459
|
|
|
NM_004408.4(DNM1):c.2594A>G (p.Ter865=)
|
rs550838267
|
|
|
NM_004408.4(DNM1):c.263_264delinsCT (p.Gly88Ala)
|
rs2131150312
|
|
|
NM_004408.4(DNM1):c.265A>G (p.Lys89Glu)
|
|
|
|
NM_004408.4(DNM1):c.285G>C (p.Glu95Asp)
|
|
|
|
NM_004408.4(DNM1):c.292C>T (p.Arg98Cys)
|
|
|
|
NM_004408.4(DNM1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_004408.4(DNM1):c.304G>A (p.Glu102Lys)
|
rs2131150438
|
|
|
NM_004408.4(DNM1):c.327C>T (p.Thr109=)
|
|
|
|
NM_004408.4(DNM1):c.33_34delinsAA (p.Leu12Met)
|
|
|
|
NM_004408.4(DNM1):c.342C>T (p.Gly114=)
|
rs553331150
|
|
|
NM_004408.4(DNM1):c.350C>T (p.Pro117Leu)
|
rs776104715
|
|
|
NM_004408.4(DNM1):c.352G>A (p.Val118Met)
|
rs1834758362
|
|
|
NM_004408.4(DNM1):c.375C>T (p.Tyr125=)
|
rs2131150705
|
|
|
NM_004408.4(DNM1):c.383A>G (p.His128Arg)
|
rs368475266
|
|
|
NM_004408.4(DNM1):c.385+11T>C
|
|
|
|
NM_004408.4(DNM1):c.385+18G>A
|
rs2131150824
|
|
|
NM_004408.4(DNM1):c.385+18G>C
|
|
|
|
NM_004408.4(DNM1):c.385+8C>T
|
|
|
|
NM_004408.4(DNM1):c.386-11G>T
|
|
|
|
NM_004408.4(DNM1):c.386-4C>G
|
|
|
|
NM_004408.4(DNM1):c.386-7T>C
|
rs1588352214
|
|
|
NM_004408.4(DNM1):c.38T>C (p.Val13Ala)
|
rs969698049
|
|
|
NM_004408.4(DNM1):c.402G>A (p.Leu134=)
|
rs777767122
|
|
|
NM_004408.4(DNM1):c.406G>A (p.Asp136Asn)
|
|
|
|
NM_004408.4(DNM1):c.411G>A (p.Leu137=)
|
|
|
|
NM_004408.4(DNM1):c.411G>T (p.Leu137=)
|
rs1051766292
|
|
|
NM_004408.4(DNM1):c.416G>C (p.Gly139Ala)
|
|
|
|
NM_004408.4(DNM1):c.427G>C (p.Val143Leu)
|
rs1834788549
|
|
|
NM_004408.4(DNM1):c.435G>T (p.Val145=)
|
|
|
|
NM_004408.4(DNM1):c.438G>A (p.Gly146=)
|
|
|
|
NM_004408.4(DNM1):c.43C>G (p.Arg15Gly)
|
rs1320569379
|
|
|
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)
|
rs1554772959
|
|
|
NM_004408.4(DNM1):c.468C>T (p.Ile156=)
|
|
|
|
NM_004408.4(DNM1):c.470G>A (p.Arg157Gln)
|
rs2131152872
|
|
|
NM_004408.4(DNM1):c.471A>G (p.Arg157=)
|
rs2131152882
|
|
|
NM_004408.4(DNM1):c.507C>T (p.Cys169=)
|
|
|
|
NM_004408.4(DNM1):c.519C>T (p.Ala173=)
|
rs2131152966
|
|
|
NM_004408.4(DNM1):c.535T>A (p.Ser179Thr)
|
|
|
|
NM_004408.4(DNM1):c.54C>T (p.Asp18=)
|
rs2131061036
|
|
|
NM_004408.4(DNM1):c.560T>C (p.Leu187Pro)
|
|
|
|
NM_004408.4(DNM1):c.578T>C (p.Val193Ala)
|
|
|
|
NM_004408.4(DNM1):c.582C>A (p.Asp194Glu)
|
|
|
|
NM_004408.4(DNM1):c.583C>A (p.Pro195Thr)
|
|
|
|
NM_004408.4(DNM1):c.588G>A (p.Gln196=)
|
rs1834794265
|
|
|
NM_004408.4(DNM1):c.589+14C>G
|
|
|
|
NM_004408.4(DNM1):c.589+19G>A
|
|
|
|
NM_004408.4(DNM1):c.589+4G>A
|
|
|
|
NM_004408.4(DNM1):c.589+4G>T
|
rs751407306
|
|
|
NM_004408.4(DNM1):c.589+8C>T
|
rs1588352832
|
|
|
NM_004408.4(DNM1):c.589G>C (p.Gly197Arg)
|
|
|
|
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile)
|
rs1834848160
|
|
|
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
|
|
|
|
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)
|
rs1057524561
|
|
|
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
|
|
|
|
NM_004408.4(DNM1):c.609C>T (p.Val203=)
|
rs1430929380
|
|
|
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)
|
rs1588355906
|
|
|
NM_004408.4(DNM1):c.644A>T (p.Asp215Val)
|
|
|
|
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
|
|
|
|
NM_004408.4(DNM1):c.669G>A (p.Lys223=)
|
rs2131157240
|
|
|
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
|
|
|
|
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
|
|
|
|
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys)
|
rs1444380018
|
|
|
NM_004408.4(DNM1):c.683G>A (p.Arg228His)
|
rs866946278
|
|
|
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly)
|
rs1834851998
|
|
|
NM_004408.4(DNM1):c.688+11C>T
|
rs2131157325
|
|
|
NM_004408.4(DNM1):c.688+13T>C
|
|
|
|
NM_004408.4(DNM1):c.688+16C>A
|
|
|
|
NM_004408.4(DNM1):c.688+16C>G
|
|
|
|
NM_004408.4(DNM1):c.688+17C>T
|
|
|
|
NM_004408.4(DNM1):c.688+18C>G
|
rs1253064816
|
|
|
NM_004408.4(DNM1):c.688+18C>T
|
|
|
|
NM_004408.4(DNM1):c.689-11A>T
|
|
|
|
NM_004408.4(DNM1):c.689-7T>C
|
|
|
|
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp)
|
rs1834860828
|
|
|
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
|
|
|
|
NM_004408.4(DNM1):c.6C>T (p.Gly2=)
|
rs1833612492
|
|
|
NM_004408.4(DNM1):c.703G>A (p.Val235Met)
|
rs2131157918
|
|
|
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)
|
rs760270633
|
|
|
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
|
|
|
|
NM_004408.4(DNM1):c.723C>T (p.Asp241=)
|
|
|
|
NM_004408.4(DNM1):c.741C>T (p.Asp247=)
|
|
|
|
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
|
|
|
|
NM_004408.4(DNM1):c.750C>T (p.Ala250=)
|
rs778276496
|
|
|
NM_004408.4(DNM1):c.753C>T (p.Ala251=)
|
rs1834862864
|
|
|
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)
|
rs752005713
|
|
|
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter)
|
rs1456731322
|
|
|
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
|
|
|
|
NM_004408.4(DNM1):c.767del (p.Arg256fs)
|
rs2131158061
|
|
|
NM_004408.4(DNM1):c.780C>G (p.Leu260=)
|
|
|
|
NM_004408.4(DNM1):c.786T>A (p.His262Gln)
|
rs1376656660
|
|
|
NM_004408.4(DNM1):c.791C>A (p.Ser264Tyr)
|
rs778811040
|
|
|
NM_004408.4(DNM1):c.792T>A (p.Ser264=)
|
|
|
|
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser)
|
rs138053929
|
|
|
NM_004408.4(DNM1):c.801C>T (p.His267=)
|
|
|
|
NM_004408.4(DNM1):c.807T>C (p.Ala269=)
|
rs1261949821
|
|
|
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)
|
rs1834865373
|
|
|
NM_004408.4(DNM1):c.81G>A (p.Ala27=)
|
rs1268920821
|
|
|
NM_004408.4(DNM1):c.821C>T (p.Thr274Met)
|
rs1284660372
|
|
|
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)
|
rs1156961123
|
|
|
NM_004408.4(DNM1):c.825C>G (p.Pro275=)
|
rs1588357060
|
|
|
NM_004408.4(DNM1):c.843C>T (p.Leu281=)
|
rs764376283
|
|
|
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
|
|
|
|
NM_004408.4(DNM1):c.849+10C>A
|
rs2131158360
|
|
|
NM_004408.4(DNM1):c.84C>T (p.Asp28=)
|
|
|
|
NM_004408.4(DNM1):c.858G>A (p.Thr286=)
|
|
|
|
NM_004408.4(DNM1):c.876A>G (p.Thr292=)
|
rs1194475149
|
|
|
NM_004408.4(DNM1):c.888G>A (p.Leu296=)
|
|
|
|
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
|
|
|
|
NM_004408.4(DNM1):c.891G>C (p.Arg297=)
|
rs2131172668
|
|
|
NM_004408.4(DNM1):c.898C>T (p.Leu300=)
|
|
|
|
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn)
|
rs1564332436
|
|
|
NM_004408.4(DNM1):c.909G>A (p.Gln303=)
|
|
|
|
NM_004408.4(DNM1):c.921T>C (p.Ile307=)
|
|
|
|
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly)
|
rs1835069996
|
|
|
NM_004408.4(DNM1):c.930G>A (p.Glu310=)
|
rs1272441165
|
|
|
NM_004408.4(DNM1):c.942C>T (p.Tyr314=)
|
|
|
|
NM_004408.4(DNM1):c.945G>T (p.Lys315Asn)
|
rs528406413
|
|
|
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys)
|
rs892194903
|
|
|
NM_004408.4(DNM1):c.954C>T (p.Arg318=)
|
rs774518740
|
|
|
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
|
|
|
|
NM_004408.4(DNM1):c.95C>T (p.Pro32Leu)
|
rs1833619327
|
|
|
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
|
|
|
|
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
|
|
|
|
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
|
|
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
|
NM_004408.4(DNM1):c.992+13C>T
|
|
|
|
NM_004408.4(DNM1):c.992+3G>A
|
|
|
|
NM_004408.4(DNM1):c.993-13_993-11del
|
|
|
|
NM_004408.4(DNM1):c.993-17C>T
|
|
|
|
NM_004408.4(DNM1):c.993-19C>G
|
rs1835081298
|
|
|
NM_004408.4(DNM1):c.993-6C>T
|
rs1196657001
|
|
|
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
|
|
|
|
NM_004453.4(ETFDH):c.1001T>G (p.Leu334Arg)
|
rs377686388
|
|
|
NM_004453.4(ETFDH):c.1002G>C (p.Leu334=)
|
rs1476673975
|
|
|
NM_004453.4(ETFDH):c.100T>A (p.Ser34Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1011del (p.Phe337fs)
|
rs757063739
|
|
|
NM_004453.4(ETFDH):c.1026G>A (p.Arg342=)
|
|
|
|
NM_004453.4(ETFDH):c.1037A>G (p.His346Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1050G>A (p.Arg350=)
|
|
|
|
NM_004453.4(ETFDH):c.1053A>T (p.Pro351=)
|
|
|
|
NM_004453.4(ETFDH):c.1054A>G (p.Thr352Ala)
|
|
|
|
NM_004453.4(ETFDH):c.1055C>A (p.Thr352Asn)
|
rs2150312268
|
|
|
NM_004453.4(ETFDH):c.1056C>T (p.Thr352=)
|
rs2150312272
|
|
|
NM_004453.4(ETFDH):c.1061A>C (p.Glu354Ala)
|
rs2150312279
|
|
|
NM_004453.4(ETFDH):c.1062del (p.Gly355fs)
|
rs2150312280
|
|
|
NM_004453.4(ETFDH):c.1066G>A (p.Gly356Arg)
|
rs2150312288
|
|
|
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)
|
rs2150312299
|
|
|
NM_004453.4(ETFDH):c.1089C>T (p.Ala363=)
|
rs1774391973
|
|
|
NM_004453.4(ETFDH):c.1092A>G (p.Arg364=)
|
|
|
|
NM_004453.4(ETFDH):c.1093G>T (p.Ala365Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1095T>C (p.Ala365=)
|
rs1774392244
|
|
|
NM_004453.4(ETFDH):c.1098C>T (p.Leu366=)
|
rs1245353864
|
|
|
NM_004453.4(ETFDH):c.1099A>G (p.Asn367Asp)
|
rs2150312312
|
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
|
NM_004453.4(ETFDH):c.1108G>A (p.Gly370Ser)
|
rs1774393063
|
|
|
NM_004453.4(ETFDH):c.1116+13A>G
|
|
|
|
NM_004453.4(ETFDH):c.1116+2T>C
|
rs1561247874
|
|
|
NM_004453.4(ETFDH):c.1116+7C>T
|
rs748640706
|
|
|
NM_004453.4(ETFDH):c.1116G>C (p.Gln372His)
|
|
|
|
NM_004453.4(ETFDH):c.1117-11T>C
|
rs917132143
|
|
|
NM_004453.4(ETFDH):c.1117-19T>G
|
|
|
|
NM_004453.4(ETFDH):c.1117-1G>A
|
rs1774518252
|
|
|
NM_004453.4(ETFDH):c.1117-20C>G
|
|
|
|
NM_004453.4(ETFDH):c.1117-2A>G
|
|
|
|
NM_004453.4(ETFDH):c.1117-9T>C
|
|
|
|
NM_004453.4(ETFDH):c.1117T>C (p.Ser373Pro)
|
rs1774518301
|
|
|
NM_004453.4(ETFDH):c.1118C>T (p.Ser373Phe)
|
rs1774518388
|
|
|
NM_004453.4(ETFDH):c.1120A>G (p.Ile374Val)
|
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
|
NM_004453.4(ETFDH):c.1134del (p.Pro380fs)
|
rs1369800014
|
|
|
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs)
|
rs2126309189
|
|
|
NM_004453.4(ETFDH):c.1140T>G (p.Pro380=)
|
rs2126309197
|
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
|
NM_004453.4(ETFDH):c.1142G>A (p.Gly381Asp)
|
|
|
|
NM_004453.4(ETFDH):c.1144G>A (p.Gly382Ser)
|
rs2126309213
|
|
|
NM_004453.4(ETFDH):c.1144G>T (p.Gly382Cys)
|
|
|
|
NM_004453.4(ETFDH):c.114T>C (p.Thr38=)
|
|
|
|
NM_004453.4(ETFDH):c.1155T>C (p.Ile385=)
|
rs2126309228
|
|
|
NM_004453.4(ETFDH):c.1169del (p.Gly390fs)
|
rs1774519872
|
|
|
NM_004453.4(ETFDH):c.1170T>C (p.Gly390=)
|
|
|
|
NM_004453.4(ETFDH):c.1178A>G (p.Asn393Ser)
|
|
|
|
NM_004453.4(ETFDH):c.117G>A (p.Val39=)
|
rs2150304380
|
|
|
NM_004453.4(ETFDH):c.1182T>G (p.Val394=)
|
rs1230662616
|
|
|
NM_004453.4(ETFDH):c.1197T>G (p.Gly399=)
|
rs2126309283
|
|
|
NM_004453.4(ETFDH):c.1209A>C (p.Ala403=)
|
rs1198347315
|
|
|
NM_004453.4(ETFDH):c.1210A>C (p.Met404Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1210A>T (p.Met404Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe)
|
rs1200031596
|
|
|
NM_004453.4(ETFDH):c.1239T>C (p.Ser413=)
|
|
|
|
NM_004453.4(ETFDH):c.1244T>C (p.Phe415Ser)
|
|
|
|
NM_004453.4(ETFDH):c.1252C>T (p.Leu418=)
|
rs769904185
|
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
|
NM_004453.4(ETFDH):c.1256C>T (p.Thr419Ile)
|
|
|
|
NM_004453.4(ETFDH):c.1257T>A (p.Thr419=)
|
|
|
|
NM_004453.4(ETFDH):c.125T>C (p.Ile42Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1269C>G (p.Leu423=)
|
|
|
|
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1278G>A (p.Lys426=)
|
rs1284823413
|
|
|
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
|
|
|
|
NM_004453.4(ETFDH):c.1285+14G>A
|
|
|
|
NM_004453.4(ETFDH):c.1285+16G>A
|
|
|
|
NM_004453.4(ETFDH):c.1285+17T>C
|
|
|
|
NM_004453.4(ETFDH):c.1285+2T>G
|
rs2126309523
|
|
|
NM_004453.4(ETFDH):c.1285G>C (p.Gly429Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1286-10T>C
|
rs2126314578
|
|
|
NM_004453.4(ETFDH):c.1286-12T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-13T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-15T>A
|
rs1248795834
|
|
|
NM_004453.4(ETFDH):c.1286-15T>C
|
|
|
|
NM_004453.4(ETFDH):c.1286-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.129T>C (p.Thr43=)
|
|
|
|
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
|
|
|
|
NM_004453.4(ETFDH):c.1309G>A (p.Asp437Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1315T>C (p.Leu439=)
|
rs1580422521
|
|
|
NM_004453.4(ETFDH):c.1323C>T (p.Asn441=)
|
rs1580422538
|
|
|
NM_004453.4(ETFDH):c.1332A>G (p.Val444=)
|
|
|
|
NM_004453.4(ETFDH):c.1335G>C (p.Trp445Cys)
|
|
|
|
NM_004453.4(ETFDH):c.1336A>C (p.Lys446Gln)
|
rs1431935282
|
|
|
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter)
|
rs2126314844
|
|
|
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
|
|
|
|
NM_004453.4(ETFDH):c.1354A>G (p.Arg452Gly)
|
rs1580422659
|
|
|
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
|
|
|
|
NM_004453.4(ETFDH):c.1360A>G (p.Ile454Val)
|
rs766776740
|
|
|
NM_004453.4(ETFDH):c.1361T>C (p.Ile454Thr)
|
rs2126314946
|
|
|
NM_004453.4(ETFDH):c.1365A>G (p.Arg455=)
|
rs1580422667
|
|
|
NM_004453.4(ETFDH):c.1366C>G (p.Pro456Ala)
|
rs751821289
|
|
|
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter)
|
rs1580422708
|
|
|
NM_004453.4(ETFDH):c.1375del (p.His459fs)
|
rs1774610957
|
|
|
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter)
|
rs989125087
|
|
|
NM_004453.4(ETFDH):c.1384C>G (p.Leu462Val)
|
|
|
|
NM_004453.4(ETFDH):c.1386G>T (p.Leu462=)
|
|
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
|
NM_004453.4(ETFDH):c.1389T>A (p.Gly463=)
|
|
|
|
NM_004453.4(ETFDH):c.1395T>C (p.Tyr465=)
|
|
|
|
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter)
|
rs745714733
|
|
|
NM_004453.4(ETFDH):c.1397G>A (p.Gly466Glu)
|
rs1774612717
|
|
|
NM_004453.4(ETFDH):c.1398A>G (p.Gly466=)
|
rs1400986353
|
|
|
NM_004453.4(ETFDH):c.1398A>T (p.Gly466=)
|
|
|
|
NM_004453.4(ETFDH):c.139A>G (p.Thr47Ala)
|
rs924962456
|
|
|
NM_004453.4(ETFDH):c.1400G>A (p.Gly467Glu)
|
|
|
|
NM_004453.4(ETFDH):c.1401G>T (p.Gly467=)
|
rs1774613217
|
|
|
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala)
|
rs768181815
|
|
|
NM_004453.4(ETFDH):c.1416A>T (p.Gly472=)
|
|
|
|
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1431A>G (p.Ile477Met)
|
rs2126315307
|
|
|
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter)
|
rs2126315337
|
|
|
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
|
|
|
|
NM_004453.4(ETFDH):c.1436G>C (p.Arg479Thr)
|
rs1774615246
|
|
|
NM_004453.4(ETFDH):c.1444G>A (p.Glu482Lys)
|
rs1774615624
|
|
|
NM_004453.4(ETFDH):c.1449G>A (p.Pro483=)
|
rs143873407
|
|
|
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)
|
rs1774616485
|
|
|
NM_004453.4(ETFDH):c.1453A>C (p.Thr485Pro)
|
rs1774616683
|
|
|
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs)
|
rs2126315444
|
|
|
NM_004453.4(ETFDH):c.1468+10A>G
|
rs144205191
|
|
|
NM_004453.4(ETFDH):c.1468+10A>T
|
rs144205191
|
|
|
NM_004453.4(ETFDH):c.1468+14G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+14G>C
|
|
|
|
NM_004453.4(ETFDH):c.1468+16G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+20G>A
|
|
|
|
NM_004453.4(ETFDH):c.1468+20G>C
|
|
|
|
NM_004453.4(ETFDH):c.1468+7C>T
|
|
|
|
NM_004453.4(ETFDH):c.1468+9A>G
|
|
|
|
NM_004453.4(ETFDH):c.1469-17C>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-18C>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-19T>G
|
rs2126316001
|
|
|
NM_004453.4(ETFDH):c.1469-1G>T
|
rs1561251640
|
|
|
NM_004453.4(ETFDH):c.1469-4G>A
|
|
|
|
NM_004453.4(ETFDH):c.1469-4dup
|
|
|
|
NM_004453.4(ETFDH):c.1469-7G>T
|
|
|
|
NM_004453.4(ETFDH):c.1469-8T>C
|
rs1774625470
|
|
|
NM_004453.4(ETFDH):c.1472C>T (p.Ser491Phe)
|
|
|
|
NM_004453.4(ETFDH):c.1484G>A (p.Arg495Gln)
|
|
|
|
NM_004453.4(ETFDH):c.1485G>A (p.Arg495=)
|
|
|
|
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro)
|
rs863224869
|
|
|
NM_004453.4(ETFDH):c.1503T>C (p.Asp501=)
|
rs752947878
|
|
|
NM_004453.4(ETFDH):c.150C>T (p.Pro50=)
|
|
|
|
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs)
|
rs2126316172
|
|
|
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr)
|
rs751394068
|
|
|
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln)
|
rs534388496
|
|
|
NM_004453.4(ETFDH):c.152G>C (p.Arg51Pro)
|
rs534388496
|
|
|
NM_004453.4(ETFDH):c.152G>T (p.Arg51Leu)
|
rs534388496
|
|
|
NM_004453.4(ETFDH):c.1539G>A (p.Gln513=)
|
|
|
|
NM_004453.4(ETFDH):c.1539G>C (p.Gln513His)
|
rs1445646586
|
|
|
NM_004453.4(ETFDH):c.1541T>C (p.Ile514Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1542C>T (p.Ile514=)
|
rs2126316304
|
|
|
NM_004453.4(ETFDH):c.154G>A (p.Asp52Asn)
|
rs2150304401
|
|
|
NM_004453.4(ETFDH):c.1554C>T (p.Leu518=)
|
|
|
|
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
|
rs533097197
|
|
|
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs)
|
rs1774630121
|
|
|
NM_004453.4(ETFDH):c.1557G>A (p.Leu519=)
|
|
|
|
NM_004453.4(ETFDH):c.1560A>G (p.Ser520=)
|
rs566844923
|
|
|
NM_004453.4(ETFDH):c.1560A>T (p.Ser520=)
|
rs566844923
|
|
|
NM_004453.4(ETFDH):c.1563T>C (p.Ser521=)
|
|
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
|
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter)
|
rs878853006
|
|
|
NM_004453.4(ETFDH):c.1581T>G (p.Thr527=)
|
|
|
|
NM_004453.4(ETFDH):c.1582A>G (p.Asn528Asp)
|
|
|
|
NM_004453.4(ETFDH):c.1584T>C (p.Asn528=)
|
rs2126316485
|
|
|
NM_004453.4(ETFDH):c.1586A>G (p.His529Arg)
|
rs2126316486
|
|
|
NM_004453.4(ETFDH):c.1587T>G (p.His529Gln)
|
|
|
|
NM_004453.4(ETFDH):c.1593T>C (p.His531=)
|
rs2126316550
|
|
|
NM_004453.4(ETFDH):c.1596C>T (p.Asp532=)
|
|
|
|
NM_004453.4(ETFDH):c.1597C>A (p.Gln533Lys)
|
rs2126316568
|
|
|
NM_004453.4(ETFDH):c.1599G>A (p.Gln533=)
|
|
|
|
NM_004453.4(ETFDH):c.15A>G (p.Leu5=)
|
|
|
|
NM_004453.4(ETFDH):c.1602G>C (p.Pro534=)
|
|
|
|
NM_004453.4(ETFDH):c.1605A>G (p.Ala535=)
|
|
|
|
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs)
|
rs1774633192
|
|
|
NM_004453.4(ETFDH):c.1615T>G (p.Leu539Val)
|
|
|
|
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
|
rs1580423557
|
|
|
NM_004453.4(ETFDH):c.1623del (p.Asp541fs)
|
rs2126316669
|
|
|
NM_004453.4(ETFDH):c.1626C>T (p.Asp542=)
|
|
|
|
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
|
|
|
|
NM_004453.4(ETFDH):c.1628G>A (p.Ser543Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1629T>C (p.Ser543=)
|
|
|
|
NM_004453.4(ETFDH):c.1631T>C (p.Ile544Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs)
|
rs771393519
|
|
|
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs)
|
rs2150304416
|
|
|
NM_004453.4(ETFDH):c.1641T>C (p.Asn547=)
|
|
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
|
NM_004453.4(ETFDH):c.164A>G (p.Lys55Arg)
|
|
|
|
NM_004453.4(ETFDH):c.1650G>A (p.Leu550=)
|
|
|
|
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs)
|
rs2126316783
|
|
|
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1653G>T (p.Ser551=)
|
rs1408118210
|
|
|
NM_004453.4(ETFDH):c.1654A>C (p.Ile552Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1660G>T (p.Asp554Tyr)
|
|
|
|
NM_004453.4(ETFDH):c.1662T>C (p.Asp554=)
|
rs2126316862
|
|
|
NM_004453.4(ETFDH):c.1664G>A (p.Gly555Glu)
|
rs2126316873
|
|
|
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser)
|
rs2126316885
|
|
|
NM_004453.4(ETFDH):c.1674G>A (p.Gln558=)
|
rs2126316924
|
|
|
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1677A>G (p.Arg559=)
|
|
|
|
NM_004453.4(ETFDH):c.1680C>A (p.Phe560Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1690+14T>C
|
|
|
|
NM_004453.4(ETFDH):c.1690+18T>C
|
|
|
|
NM_004453.4(ETFDH):c.1690+2T>G
|
|
|
|
NM_004453.4(ETFDH):c.1690+9T>G
|
|
|
|
NM_004453.4(ETFDH):c.1691-14_1691-9del
|
|
|
|
NM_004453.4(ETFDH):c.1691-15A>G
|
|
|
|
NM_004453.4(ETFDH):c.1691-15A>T
|
|
|
|
NM_004453.4(ETFDH):c.1691-18T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-2_1691-1delinsGA
|
|
|
|
NM_004453.4(ETFDH):c.1691-4T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-7T>C
|
|
|
|
NM_004453.4(ETFDH):c.1691-8_1691-2dup
|
rs1326899328
|
|
|
NM_004453.4(ETFDH):c.1698T>C (p.Tyr566=)
|
rs2126320707
|
|
|
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter)
|
rs1774695889
|
|
|
NM_004453.4(ETFDH):c.1705G>T (p.Val569Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1711G>C (p.Val571Leu)
|
|
|
|
NM_004453.4(ETFDH):c.1716A>G (p.Glu572=)
|
rs2126320794
|
|
|
NM_004453.4(ETFDH):c.1720G>A (p.Gly574Ser)
|
rs867281765
|
|
|
NM_004453.4(ETFDH):c.1725T>C (p.Asp575=)
|
rs1774697442
|
|
|
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_004453.4(ETFDH):c.1739A>G (p.Gln580Arg)
|
rs749989069
|
|
|
NM_004453.4(ETFDH):c.1745del (p.Asn582fs)
|
rs1774698674
|
|
|
NM_004453.4(ETFDH):c.175+15G>C
|
rs2150304437
|
|
|
NM_004453.4(ETFDH):c.175+18T>A
|
rs778154689
|
|
|
NM_004453.4(ETFDH):c.175+19A>G
|
|
|
|
NM_004453.4(ETFDH):c.175+1del
|
rs2150304426
|
|
|
NM_004453.4(ETFDH):c.175+20C>G
|
|
|
|
NM_004453.4(ETFDH):c.175+3A>G
|
rs781151266
|
|
|
NM_004453.4(ETFDH):c.1750C>G (p.Gln584Glu)
|
|
|
|
NM_004453.4(ETFDH):c.1759G>A (p.Val587Ile)
|
|
|
|
NM_004453.4(ETFDH):c.1759G>T (p.Val587Leu)
|
|
|
|
NM_004453.4(ETFDH):c.176-19G>T
|
|
|
|
NM_004453.4(ETFDH):c.176-1G>A
|
|
|
|
NM_004453.4(ETFDH):c.176-20A>G
|
|
|
|
NM_004453.4(ETFDH):c.176-4C>T
|
|
|
|
NM_004453.4(ETFDH):c.176-5C>T
|
rs2150305143
|
|
|
NM_004453.4(ETFDH):c.1762C>T (p.His588Tyr)
|
rs1225042876
|
|
|
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg)
|
rs781498366
|
|
|
NM_004453.4(ETFDH):c.1767T>C (p.Cys589=)
|
rs1580425819
|
|
|
NM_004453.4(ETFDH):c.1773A>G (p.Thr591=)
|
|
|
|
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
|
|
|
|
NM_004453.4(ETFDH):c.1781T>C (p.Ile594Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1781_1783dup (p.Ile594dup)
|
rs1774700761
|
|
|
NM_004453.4(ETFDH):c.1785del (p.Asp596fs)
|
rs2126321079
|
|
|
NM_004453.4(ETFDH):c.1793G>A (p.Ser598Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1798A>C (p.Asn600His)
|
|
|
|
NM_004453.4(ETFDH):c.1800T>C (p.Asn600=)
|
rs2126321129
|
|
|
NM_004453.4(ETFDH):c.1802T>A (p.Ile601Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter)
|
rs1580425904
|
|
|
NM_004453.4(ETFDH):c.1806C>T (p.Asn602=)
|
|
|
|
NM_004453.4(ETFDH):c.180G>A (p.Val60=)
|
|
|
|
NM_004453.4(ETFDH):c.1810G>A (p.Val604Met)
|
rs1436514087
|
|
|
NM_004453.4(ETFDH):c.1811T>A (p.Val604Glu)
|
rs2126321188
|
|
|
NM_004453.4(ETFDH):c.1815A>G (p.Val605=)
|
rs1248188975
|
|
|
NM_004453.4(ETFDH):c.1816C>A (p.Pro606Thr)
|
rs1292587000
|
|
|
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
|
|
|
|
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg)
|
rs2126321296
|
|
|
NM_004453.4(ETFDH):c.1834C>A (p.Pro612Thr)
|
|
|
|
NM_004453.4(ETFDH):c.1834C>T (p.Pro612Ser)
|
|
|
|
NM_004453.4(ETFDH):c.183C>T (p.Asn61=)
|
rs2150305147
|
|
|
NM_004453.4(ETFDH):c.1840T>A (p.Tyr614Asn)
|
|
|
|
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
|
|
|
|
NM_004453.4(ETFDH):c.1848A>T (p.Gly616=)
|
|
|
|
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
|
|
|
|
NM_004453.4(ETFDH):c.207del (p.Asp70fs)
|
rs1773877563
|
|
|
NM_004453.4(ETFDH):c.214G>A (p.Val72Ile)
|
|
|
|
NM_004453.4(ETFDH):c.21G>A (p.Lys7=)
|
rs1232501551
|
|
|
NM_004453.4(ETFDH):c.234T>A (p.Pro78=)
|
|
|
|
NM_004453.4(ETFDH):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
|
|
|
|
NM_004453.4(ETFDH):c.243C>A (p.Leu81=)
|
|
|
|
NM_004453.4(ETFDH):c.243C>G (p.Leu81=)
|
rs1186680703
|
|
|
NM_004453.4(ETFDH):c.24G>T (p.Leu8=)
|
|
|
|
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val)
|
rs1580396712
|
|
|
NM_004453.4(ETFDH):c.252T>C (p.Ala84=)
|
|
|
|
NM_004453.4(ETFDH):c.259C>T (p.Leu87=)
|
rs2150305192
|
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
|
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter)
|
rs2150305196
|
|
|
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs)
|
rs1773880008
|
|
|
NM_004453.4(ETFDH):c.268T>C (p.Leu90=)
|
|
|
|
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter)
|
rs749085653
|
|
|
NM_004453.4(ETFDH):c.269T>C (p.Leu90Ser)
|
|
|
|
NM_004453.4(ETFDH):c.270G>A (p.Leu90=)
|
rs2150305205
|
|
|
NM_004453.4(ETFDH):c.271G>T (p.Ala91Ser)
|
rs1208091864
|
|
|
NM_004453.4(ETFDH):c.282T>C (p.His94=)
|
|
|
|
NM_004453.4(ETFDH):c.284A>G (p.Glu95Gly)
|
rs1580396806
|
|
|
NM_004453.4(ETFDH):c.288G>A (p.Lys96=)
|
|
|
|
NM_004453.4(ETFDH):c.291C>T (p.Asp97=)
|
rs2150305224
|
|
|
NM_004453.4(ETFDH):c.296G>C (p.Arg99Pro)
|
rs376630579
|
|
|
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)
|
rs121964953
|
|
|
NM_004453.4(ETFDH):c.300G>A (p.Val100=)
|
rs1580396868
|
|
|
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs)
|
rs796051962
|
|
|
NM_004453.4(ETFDH):c.306A>C (p.Leu102=)
|
rs2150305233
|
|
|
NM_004453.4(ETFDH):c.306A>G (p.Leu102=)
|
rs2150305233
|
|
|
NM_004453.4(ETFDH):c.312G>A (p.Glu104=)
|
|
|
|
NM_004453.4(ETFDH):c.320C>T (p.Ala107Val)
|
|
|
|
NM_004453.4(ETFDH):c.330A>C (p.Gly110=)
|
rs2150305251
|
|
|
NM_004453.4(ETFDH):c.334C>A (p.His112Asn)
|
rs1773883564
|
|
|
NM_004453.4(ETFDH):c.339T>G (p.Thr113=)
|
|
|
|
NM_004453.4(ETFDH):c.34+11A>G
|
|
|
|
NM_004453.4(ETFDH):c.34+16C>A
|
|
|
|
NM_004453.4(ETFDH):c.34+17G>A
|
|
|
|
NM_004453.4(ETFDH):c.34+5G>A
|
|
|
|
NM_004453.4(ETFDH):c.34+5G>C
|
rs1373597092
|
|
|
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter)
|
rs2150305273
|
|
|
NM_004453.4(ETFDH):c.348G>A (p.Gly116=)
|
|
|
|
NM_004453.4(ETFDH):c.349G>C (p.Ala117Pro)
|
rs763106795
|
|
|
NM_004453.4(ETFDH):c.35-11T>C
|
|
|
|
NM_004453.4(ETFDH):c.35-16C>T
|
|
|
|
NM_004453.4(ETFDH):c.35-18T>A
|
|
|
|
NM_004453.4(ETFDH):c.35-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.35-3C>A
|
rs1554031296
|
|
|
NM_004453.4(ETFDH):c.35-4G>A
|
|
|
|
NM_004453.4(ETFDH):c.35-6G>A
|
rs753999138
|
|
|
NM_004453.4(ETFDH):c.35-6G>T
|
rs753999138
|
|
|
NM_004453.4(ETFDH):c.35-7T>C
|
rs2150304320
|
|
|
NM_004453.4(ETFDH):c.35-8T>C
|
rs2150304318
|
|
|
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
|
|
|
|
NM_004453.4(ETFDH):c.352T>G (p.Cys118Gly)
|
rs2150305281
|
|
|
NM_004453.4(ETFDH):c.353G>T (p.Cys118Phe)
|
rs1467428857
|
|
|
NM_004453.4(ETFDH):c.358G>C (p.Asp120His)
|
|
|
|
NM_004453.4(ETFDH):c.359A>G (p.Asp120Gly)
|
rs1773885189
|
|
|
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
|
|
|
|
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
|
rs201254467
|
|
|
NM_004453.4(ETFDH):c.373A>G (p.Lys125Glu)
|
|
|
|
NM_004453.4(ETFDH):c.376G>A (p.Glu126Lys)
|
rs1773885660
|
|
|
NM_004453.4(ETFDH):c.379C>T (p.Leu127Phe)
|
|
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
|
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg)
|
rs121964956
|
|
|
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
|
|
|
|
NM_004453.4(ETFDH):c.385C>T (p.Pro129Ser)
|
rs985343342
|
|
|
NM_004453.4(ETFDH):c.386del (p.Pro129fs)
|
rs2150305297
|
|
|
NM_004453.4(ETFDH):c.387A>G (p.Pro129=)
|
rs1295185280
|
|
|
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
|
|
|
|
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
|
|
|
|
NM_004453.4(ETFDH):c.405+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.405+13G>A
|
rs375086504
|
|
|
NM_004453.4(ETFDH):c.405+13G>T
|
|
|
|
NM_004453.4(ETFDH):c.405+19del
|
|
|
|
NM_004453.4(ETFDH):c.405+19dup
|
|
|
|
NM_004453.4(ETFDH):c.405+1G>T
|
rs2150305321
|
|
|
NM_004453.4(ETFDH):c.405G>A (p.Gly135=)
|
|
|
|
NM_004453.4(ETFDH):c.406-13_406-11del
|
|
|
|
NM_004453.4(ETFDH):c.406-19T>C
|
|
|
|
NM_004453.4(ETFDH):c.406-20T>C
|
|
|
|
NM_004453.4(ETFDH):c.406-2A>G
|
rs2150306282
|
|
|
NM_004453.4(ETFDH):c.406-5T>C
|
|
|
|
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
|
|
|
|
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
|
|
|
|
NM_004453.4(ETFDH):c.411A>C (p.Pro137=)
|
rs1187372386
|
|
|
NM_004453.4(ETFDH):c.411A>G (p.Pro137=)
|
|
|
|
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
|
|
|
|
NM_004453.4(ETFDH):c.420T>C (p.Thr140=)
|
|
|
|
NM_004453.4(ETFDH):c.423T>A (p.Pro141=)
|
|
|
|
NM_004453.4(ETFDH):c.426A>C (p.Val142=)
|
|
|
|
NM_004453.4(ETFDH):c.426A>G (p.Val142=)
|
|
|
|
NM_004453.4(ETFDH):c.42G>C (p.Gln14His)
|
|
|
|
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
|
|
|
|
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
|
|
|
|
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs)
|
rs1231802914
|
|
|
NM_004453.4(ETFDH):c.43T>A (p.Cys15Ser)
|
|
|
|
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs)
|
rs1773954366
|
|
|
NM_004453.4(ETFDH):c.454G>C (p.Glu152Gln)
|
rs2150306318
|
|
|
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter)
|
rs878853082
|
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
|
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter)
|
rs549150456
|
|
|
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
|
|
|
|
NM_004453.4(ETFDH):c.46T>A (p.Phe16Ile)
|
|
|
|
NM_004453.4(ETFDH):c.471T>C (p.Pro157=)
|
|
|
|
NM_004453.4(ETFDH):c.471T>G (p.Pro157=)
|
|
|
|
NM_004453.4(ETFDH):c.477A>G (p.Pro159=)
|
rs2150306341
|
|
|
NM_004453.4(ETFDH):c.477A>T (p.Pro159=)
|
rs2150306341
|
|
|
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu)
|
rs1773956133
|
|
|
NM_004453.4(ETFDH):c.485_487+13del
|
rs1773956317
|
|
|
NM_004453.4(ETFDH):c.487+13G>T
|
|
|
|
NM_004453.4(ETFDH):c.487+14A>T
|
|
|
|
NM_004453.4(ETFDH):c.487+15A>G
|
|
|
|
NM_004453.4(ETFDH):c.487+15A>T
|
|
|
|
NM_004453.4(ETFDH):c.487+1G>A
|
rs1444488601
|
|
|
NM_004453.4(ETFDH):c.487+20C>A
|
|
|
|
NM_004453.4(ETFDH):c.487+2T>A
|
|
|
|
NM_004453.4(ETFDH):c.487+2T>G
|
|
|
|
NM_004453.4(ETFDH):c.487+8A>G
|
|
|
|
NM_004453.4(ETFDH):c.487+8A>T
|
rs1773956780
|
|
|
NM_004453.4(ETFDH):c.487+9T>C
|
|
|
|
NM_004453.4(ETFDH):c.488-12A>G
|
rs180889150
|
|
|
NM_004453.4(ETFDH):c.488-17T>A
|
|
|
|
NM_004453.4(ETFDH):c.488-18T>C
|
|
|
|
NM_004453.4(ETFDH):c.488-1G>T
|
rs2150306551
|
|
|
NM_004453.4(ETFDH):c.488-6T>C
|
|
|
|
NM_004453.4(ETFDH):c.488-9T>C
|
rs1554031705
|
|
|
NM_004453.4(ETFDH):c.492T>C (p.Leu164=)
|
rs1773968944
|
|
|
NM_004453.4(ETFDH):c.504T>C (p.Asn168=)
|
rs1773969287
|
|
|
NM_004453.4(ETFDH):c.510C>G (p.Gly170=)
|
rs747148665
|
|
|
NM_004453.4(ETFDH):c.511A>G (p.Asn171Asp)
|
|
|
|
NM_004453.4(ETFDH):c.512A>G (p.Asn171Ser)
|
rs1773969792
|
|
|
NM_004453.4(ETFDH):c.51T>C (p.His17=)
|
|
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
|
|
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)
|
rs121964955
|
|
|
NM_004453.4(ETFDH):c.529G>A (p.Gly177Arg)
|
|
|
|
NM_004453.4(ETFDH):c.534T>C (p.His178=)
|
|
|
|
NM_004453.4(ETFDH):c.540G>C (p.Val180=)
|
|
|
|
NM_004453.4(ETFDH):c.540G>T (p.Val180=)
|
rs1580400148
|
|
|
NM_004453.4(ETFDH):c.543C>T (p.Ser181=)
|
|
|
|
NM_004453.4(ETFDH):c.54C>T (p.Ala18=)
|
|
|
|
NM_004453.4(ETFDH):c.553G>A (p.Glu185Lys)
|
|
|
|
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val)
|
rs369912835
|
|
|
NM_004453.4(ETFDH):c.561A>G (p.Ala187=)
|
rs1318375497
|
|
|
NM_004453.4(ETFDH):c.567C>T (p.Ala189=)
|
rs1773972695
|
|
|
NM_004453.4(ETFDH):c.569T>C (p.Leu190Pro)
|
rs1255103931
|
|
|
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer)
|
rs2150304339
|
|
|
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
|
|
|
|
NM_004453.4(ETFDH):c.582A>G (p.Val194=)
|
rs2150306629
|
|
|
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs)
|
rs2150306625
|
|
|
NM_004453.4(ETFDH):c.585C>T (p.Tyr195=)
|
|
|
|
NM_004453.4(ETFDH):c.586C>A (p.Pro196Thr)
|
|
|
|
NM_004453.4(ETFDH):c.587_588delinsAA (p.Pro196Gln)
|
rs2150306642
|
|
|
NM_004453.4(ETFDH):c.603T>G (p.Ala201=)
|
|
|
|
NM_004453.4(ETFDH):c.606+10G>A
|
rs2150306651
|
|
|
NM_004453.4(ETFDH):c.606+10GTTTT[2]
|
rs745580994
|
|
|
NM_004453.4(ETFDH):c.606+13T>C
|
|
|
|
NM_004453.4(ETFDH):c.606+18T>G
|
|
|
|
NM_004453.4(ETFDH):c.606+1G>A
|
rs1241072742
|
|
|
NM_004453.4(ETFDH):c.607-12T>A
|
|
|
|
NM_004453.4(ETFDH):c.607-12del
|
|
|
|
NM_004453.4(ETFDH):c.607-12dup
|
rs527944729
|
|
|
NM_004453.4(ETFDH):c.607-15T>A
|
|
|
|
NM_004453.4(ETFDH):c.607-1G>A
|
|
|
|
NM_004453.4(ETFDH):c.607-1G>T
|
rs760251231
|
|
|
NM_004453.4(ETFDH):c.607-20_607-19del
|
|
|
|
NM_004453.4(ETFDH):c.607-2A>G
|
|
|
|
NM_004453.4(ETFDH):c.607-3del
|
|
|
|
NM_004453.4(ETFDH):c.607-7T>C
|
|
|
|
NM_004453.4(ETFDH):c.607-8_607-7del
|
rs2150308959
|
|
|
NM_004453.4(ETFDH):c.607-9C>A
|
|
|
|
NM_004453.4(ETFDH):c.608T>C (p.Val203Ala)
|
|
|
|
NM_004453.4(ETFDH):c.617A>C (p.His206Pro)
|
|
|
|
NM_004453.4(ETFDH):c.624T>C (p.Asp208=)
|
|
|
|
NM_004453.4(ETFDH):c.630T>C (p.Ser210=)
|
rs1456188483
|
|
|
NM_004453.4(ETFDH):c.638G>C (p.Gly213Ala)
|
|
|
|
NM_004453.4(ETFDH):c.639A>G (p.Gly213=)
|
|
|
|
NM_004453.4(ETFDH):c.63T>C (p.Ile21=)
|
rs566605780
|
|
|
NM_004453.4(ETFDH):c.642T>G (p.Ile214Met)
|
rs201049444
|
|
|
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
|
|
|
|
NM_004453.4(ETFDH):c.655G>A (p.Val219Ile)
|
|
|
|
NM_004453.4(ETFDH):c.657A>G (p.Val219=)
|
|
|
|
NM_004453.4(ETFDH):c.660G>C (p.Gly220=)
|
rs2150309010
|
|
|
NM_004453.4(ETFDH):c.662T>A (p.Ile221Lys)
|
rs1580406086
|
|
|
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro)
|
rs1482632936
|
|
|
NM_004453.4(ETFDH):c.672T>C (p.Asp224=)
|
|
|
|
NM_004453.4(ETFDH):c.675T>C (p.Gly225=)
|
|
|
|
NM_004453.4(ETFDH):c.684+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.684+12del
|
|
|
|
NM_004453.4(ETFDH):c.684+19T>C
|
|
|
|
NM_004453.4(ETFDH):c.684+2T>G
|
rs1580406119
|
|
|
NM_004453.4(ETFDH):c.684+3_684+9dup
|
rs773592713
|
|
|
NM_004453.4(ETFDH):c.684+7C>G
|
|
|
|
NM_004453.4(ETFDH):c.685-1G>A
|
|
|
|
NM_004453.4(ETFDH):c.685-4del
|
|
|
|
NM_004453.4(ETFDH):c.685-8C>G
|
|
|
|
NM_004453.4(ETFDH):c.685-9G>C
|
|
|
|
NM_004453.4(ETFDH):c.687A>G (p.Ala229=)
|
|
|
|
NM_004453.4(ETFDH):c.697A>G (p.Arg233Gly)
|
|
|
|
NM_004453.4(ETFDH):c.6G>C (p.Leu2=)
|
rs2150300532
|
|
|
NM_004453.4(ETFDH):c.700G>A (p.Gly234Arg)
|
rs1032041993
|
|
|
NM_004453.4(ETFDH):c.705G>A (p.Leu235=)
|
|
|
|
NM_004453.4(ETFDH):c.709C>T (p.Leu237=)
|
rs2150310947
|
|
|
NM_004453.4(ETFDH):c.714T>C (p.His238=)
|
|
|
|
NM_004453.4(ETFDH):c.71dup (p.Asn24fs)
|
rs2150304342
|
|
|
NM_004453.4(ETFDH):c.725C>T (p.Thr242Ile)
|
|
|
|
NM_004453.4(ETFDH):c.726A>G (p.Thr242=)
|
rs2150310952
|
|
|
NM_004453.4(ETFDH):c.750A>T (p.Gly250=)
|
rs2150310974
|
|
|
NM_004453.4(ETFDH):c.761A>G (p.Lys254Arg)
|
rs1580411844
|
|
|
NM_004453.4(ETFDH):c.769T>C (p.Tyr257His)
|
rs1441657866
|
|
|
NM_004453.4(ETFDH):c.774G>A (p.Lys258=)
|
rs1014508077
|
|
|
NM_004453.4(ETFDH):c.783T>C (p.Asp261=)
|
|
|
|
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
|
rs1450977775
|
|
|
NM_004453.4(ETFDH):c.789A>G (p.Arg263=)
|
|
|
|
NM_004453.4(ETFDH):c.78A>G (p.Leu26=)
|
|
|
|
NM_004453.4(ETFDH):c.805C>G (p.Gln269Glu)
|
rs1580411897
|
|
|
NM_004453.4(ETFDH):c.806A>T (p.Gln269Leu)
|
rs776320810
|
|
|
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)
|
rs1265381182
|
|
|
NM_004453.4(ETFDH):c.807A>G (p.Gln269=)
|
|
|
|
NM_004453.4(ETFDH):c.813C>T (p.Tyr271=)
|
|
|
|
NM_004453.4(ETFDH):c.818T>C (p.Ile273Thr)
|
|
|
|
NM_004453.4(ETFDH):c.823C>T (p.Leu275=)
|
|
|
|
NM_004453.4(ETFDH):c.825G>A (p.Leu275=)
|
|
|
|
NM_004453.4(ETFDH):c.831+18T>C
|
|
|
|
NM_004453.4(ETFDH):c.831+19G>A
|
|
|
|
NM_004453.4(ETFDH):c.831+2T>G
|
|
|
|
NM_004453.4(ETFDH):c.831+3A>C
|
rs1426349276
|
|
|
NM_004453.4(ETFDH):c.831+6C>T
|
|
|
|
NM_004453.4(ETFDH):c.831+8G>A
|
|
|
|
NM_004453.4(ETFDH):c.832-13T>C
|
|
|
|
NM_004453.4(ETFDH):c.832-16C>T
|
|
|
|
NM_004453.4(ETFDH):c.832-1G>A
|
|
|
|
NM_004453.4(ETFDH):c.832-3dup
|
rs376153836
|
|
|
NM_004453.4(ETFDH):c.832-4_832-3del
|
|
|
|
NM_004453.4(ETFDH):c.832-4_832-3insA
|
|
|
|
NM_004453.4(ETFDH):c.834A>G (p.Leu278=)
|
rs761077518
|
|
|
NM_004453.4(ETFDH):c.838del (p.Val280fs)
|
|
|
|
NM_004453.4(ETFDH):c.865G>A (p.Gly289Arg)
|
rs1774343332
|
|
|
NM_004453.4(ETFDH):c.867G>A (p.Gly289=)
|
rs1774343547
|
|
|
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly)
|
rs755907131
|
|
|
NM_004453.4(ETFDH):c.879C>T (p.His293=)
|
rs1774344228
|
|
|
NM_004453.4(ETFDH):c.887G>A (p.Gly296Asp)
|
|
|
|
NM_004453.4(ETFDH):c.888T>C (p.Gly296=)
|
rs1174948040
|
|
|
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)
|
rs1774344831
|
|
|
NM_004453.4(ETFDH):c.897G>A (p.Leu299=)
|
|
|
|
NM_004453.4(ETFDH):c.906T>C (p.His302=)
|
rs2150311696
|
|
|
NM_004453.4(ETFDH):c.909C>T (p.Thr303=)
|
|
|
|
NM_004453.4(ETFDH):c.90T>C (p.Ala30=)
|
|
|
|
NM_004453.4(ETFDH):c.912T>C (p.Tyr304=)
|
rs2150311706
|
|
|
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
|
|
|
|
NM_004453.4(ETFDH):c.922T>G (p.Phe308Val)
|
rs1218671512
|
|
|
NM_004453.4(ETFDH):c.924C>T (p.Phe308=)
|
rs1261212490
|
|
|
NM_004453.4(ETFDH):c.927C>G (p.Leu309=)
|
|
|
|
NM_004453.4(ETFDH):c.933T>C (p.His311=)
|
rs2150311727
|
|
|
NM_004453.4(ETFDH):c.934T>G (p.Leu312Val)
|
|
|
|
NM_004453.4(ETFDH):c.936G>A (p.Leu312=)
|
|
|
|
NM_004453.4(ETFDH):c.939T>C (p.Asn313=)
|
rs2150311730
|
|
|
NM_004453.4(ETFDH):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_004453.4(ETFDH):c.942A>G (p.Glu314=)
|
|
|
|
NM_004453.4(ETFDH):c.948A>G (p.Glu316=)
|
rs1774347347
|
|
|
NM_004453.4(ETFDH):c.951C>G (p.Pro317=)
|
|
|
|
NM_004453.4(ETFDH):c.952C>A (p.Leu318Ile)
|
rs763002171
|
|
|
NM_004453.4(ETFDH):c.952C>T (p.Leu318=)
|
rs763002171
|
|
|
NM_004453.4(ETFDH):c.954A>G (p.Leu318=)
|
|
|
|
NM_004453.4(ETFDH):c.962T>C (p.Leu321Pro)
|
rs1464356117
|
|
|
NM_004453.4(ETFDH):c.966T>C (p.Gly322=)
|
rs2150311745
|
|
|
NM_004453.4(ETFDH):c.970G>C (p.Val324Leu)
|
rs1774348680
|
|
|
NM_004453.4(ETFDH):c.972+10A>G
|
rs745409764
|
|
|
NM_004453.4(ETFDH):c.972+11T>A
|
|
|
|
NM_004453.4(ETFDH):c.972+11T>C
|
|
|
|
NM_004453.4(ETFDH):c.972+16A>G
|
|
|
|
NM_004453.4(ETFDH):c.972+16A>T
|
|
|
|
NM_004453.4(ETFDH):c.972+1del
|
|
|
|
NM_004453.4(ETFDH):c.972+7T>A
|
rs1580414056
|
|
|
NM_004453.4(ETFDH):c.973-13G>A
|
|
|
|
NM_004453.4(ETFDH):c.973-14T>C
|
|
|
|
NM_004453.4(ETFDH):c.973-17_973-16del
|
|
|
|
NM_004453.4(ETFDH):c.973-19A>G
|
|
|
|
NM_004453.4(ETFDH):c.973-1G>A
|
rs1580415323
|
|
|
NM_004453.4(ETFDH):c.973-2A>G
|
rs2150312193
|
|
|
NM_004453.4(ETFDH):c.973-9A>T
|
|
|
|
NM_004453.4(ETFDH):c.975T>C (p.Val325=)
|
rs2150312198
|
|
|
NM_004453.4(ETFDH):c.978T>C (p.Gly326=)
|
|
|
|
NM_004453.4(ETFDH):c.981A>G (p.Leu327=)
|
rs2150312206
|
|
|
NM_004453.4(ETFDH):c.983A>G (p.Asp328Gly)
|
|
|
|
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter)
|
rs1169197181
|
|
|
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile)
|
rs2150312216
|
|
|
NM_004453.4(ETFDH):c.995C>T (p.Pro332Leu)
|
|
|
|
NM_004453.4(ETFDH):c.996A>G (p.Pro332=)
|
rs566071326
|
|
|
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter)
|
rs2150312228
|
|
|
NM_004483.5(GCSH):c.113T>G (p.Val38Gly)
|
rs888630308
|
|
|
NM_004483.5(GCSH):c.132A>C (p.Gly44=)
|
rs1185522027
|
|
|
NM_004483.5(GCSH):c.132A>T (p.Gly44=)
|
rs1185522027
|
|
|
NM_004483.5(GCSH):c.149-3T>C
|
rs1972381011
|
|
|
NM_004483.5(GCSH):c.151C>T (p.Arg51Cys)
|
rs1972380968
|
|
|
NM_004483.5(GCSH):c.17T>G (p.Val6Gly)
|
rs1567591606
|
|
|
NM_004483.5(GCSH):c.1A>T (p.Met1Leu)
|
rs886039730
|
|
|
NM_004483.5(GCSH):c.203C>T (p.Thr68Ile)
|
rs145768524
|
|
|
NM_004483.5(GCSH):c.20G>A (p.Arg7Gln)
|
rs1373562429
|
|
|
NM_004483.5(GCSH):c.22A>G (p.Ser8Gly)
|
rs546860042
|
|
|
NM_004483.5(GCSH):c.246T>A (p.Val82=)
|
rs536733893
|
|
|
NM_004483.5(GCSH):c.254G>T (p.Cys85Phe)
|
rs1972310010
|
|
|
NM_004483.5(GCSH):c.259C>A (p.Leu87Ile)
|
rs2151769189
|
|
|
NM_004483.5(GCSH):c.28C>T (p.Arg10Trp)
|
rs1254680841
|
|
|
NM_004483.5(GCSH):c.292+10C>T
|
rs571999768
|
|
|
NM_004483.5(GCSH):c.292+7G>A
|
rs1972309218
|
|
|
NM_004483.5(GCSH):c.293-16dup
|
rs202181338
|
|
|
NM_004483.5(GCSH):c.293-4T>C
|
rs1555529308
|
|
|
NM_004483.5(GCSH):c.313A>G (p.Ser105Gly)
|
rs747131765
|
|
|
NM_004483.5(GCSH):c.318G>A (p.Val106=)
|
|
|
|
NM_004483.5(GCSH):c.31G>A (p.Ala11Thr)
|
rs766468139
|
|
|
NM_004483.5(GCSH):c.31G>T (p.Ala11Ser)
|
rs766468139
|
|
|
NM_004483.5(GCSH):c.338_342del (p.Tyr113fs)
|
rs1972233022
|
|
|
NM_004483.5(GCSH):c.375A>G (p.Glu125=)
|
rs868224309
|
|
|
NM_004483.5(GCSH):c.38T>C (p.Leu13Pro)
|
rs2151776055
|
|
|
NM_004483.5(GCSH):c.423T>C (p.Asp141=)
|
rs749405278
|
|
|
NM_004483.5(GCSH):c.446T>C (p.Leu149Pro)
|
rs944048995
|
|
|
NM_004483.5(GCSH):c.46C>T (p.Leu16=)
|
rs1231763519
|
|
|
NM_004483.5(GCSH):c.4G>C (p.Ala2Pro)
|
rs975360553
|
|
|
NM_004483.5(GCSH):c.502A>G (p.Ile168Val)
|
rs1972198288
|
|
|
NM_004483.5(GCSH):c.511A>T (p.Ile171Phe)
|
rs1322444223
|
|
|
NM_004577.4(PSPH):c.276-14A>G
|
|
|
|
NM_004577.4(PSPH):c.276-17T>C
|
|
|
|
NM_004577.4(PSPH):c.276-20T>G
|
|
|
|
NM_004577.4(PSPH):c.276-2A>G
|
|
|
|
NM_004577.4(PSPH):c.276-4G>C
|
|
|
|
NM_004577.4(PSPH):c.276G>A (p.Arg92=)
|
rs2116569669
|
|
|
NM_004577.4(PSPH):c.302G>A (p.Arg101Gln)
|
|
|
|
NM_004577.4(PSPH):c.305A>G (p.Asn102Ser)
|
rs1562786740
|
|
|
NM_004577.4(PSPH):c.306_307insTTC (p.Asn102_Val103insPhe)
|
rs2116568545
|
|
|
NM_004577.4(PSPH):c.316T>C (p.Phe106Leu)
|
rs1295914487
|
|
|
NM_004577.4(PSPH):c.339G>A (p.Arg113=)
|
rs2116568145
|
|
|
NM_004577.4(PSPH):c.341G>T (p.Ser114Ile)
|
|
|
|
NM_004577.4(PSPH):c.351G>A (p.Glu117=)
|
|
|
|
NM_004577.4(PSPH):c.351G>T (p.Glu117Asp)
|
rs766126853
|
|
|
NM_004577.4(PSPH):c.353A>G (p.His118Arg)
|
|
|
|
NM_004577.4(PSPH):c.358G>T (p.Ala120Ser)
|
|
|
|
NM_004577.4(PSPH):c.366G>C (p.Lys122Asn)
|
|
|
|
NM_004577.4(PSPH):c.369C>T (p.Leu123=)
|
rs773338634
|
|
|
NM_004577.4(PSPH):c.372T>C (p.Asn124=)
|
|
|
|
NM_004577.4(PSPH):c.379G>A (p.Ala127Thr)
|
|
|
|
NM_004577.4(PSPH):c.390A>G (p.Val130=)
|
|
|
|
NM_004577.4(PSPH):c.402G>T (p.Arg134Ser)
|
|
|
|
NM_004577.4(PSPH):c.408A>G (p.Lys136=)
|
|
|
|
NM_004577.4(PSPH):c.421+12A>T
|
rs2116565444
|
|
|
NM_004577.4(PSPH):c.421+20A>G
|
|
|
|
NM_004577.4(PSPH):c.421+20A>T
|
|
|
|
NM_004577.4(PSPH):c.421G>A (p.Gly141Ser)
|
|
|
|
NM_004577.4(PSPH):c.422-14A>C
|
rs749619757
|
|
|
NM_004577.4(PSPH):c.422-4T>G
|
|
|
|
NM_004577.4(PSPH):c.424G>A (p.Glu142Lys)
|
|
|
|
NM_004577.4(PSPH):c.432A>C (p.Ala144=)
|
|
|
|
NM_004577.4(PSPH):c.441T>C (p.Asp147=)
|
|
|
|
NM_004577.4(PSPH):c.450G>A (p.Gln150=)
|
rs2116515322
|
|
|
NM_004577.4(PSPH):c.464C>T (p.Ser155Phe)
|
|
|
|
NM_004577.4(PSPH):c.479A>G (p.Lys160Arg)
|
rs2116514675
|
|
|
NM_004577.4(PSPH):c.484A>G (p.Ile162Val)
|
|
|
|
NM_004577.4(PSPH):c.489A>G (p.Lys163=)
|
rs2116514516
|
|
|
NM_004577.4(PSPH):c.509A>G (p.His170Arg)
|
rs1788401716
|
|
|
NM_004577.4(PSPH):c.540T>C (p.Gly180=)
|
|
|
|
NM_004577.4(PSPH):c.549T>C (p.Asp183=)
|
|
|
|
NM_004577.4(PSPH):c.570+12G>C
|
|
|
|
NM_004577.4(PSPH):c.570+14G>A
|
|
|
|
NM_004577.4(PSPH):c.570+19A>G
|
rs2116512576
|
|
|
NM_004577.4(PSPH):c.593G>A (p.Gly198Glu)
|
|
|
|
NM_004577.4(PSPH):c.595A>C (p.Asn199His)
|
|
|
|
NM_004577.4(PSPH):c.604A>C (p.Arg202=)
|
|
|
|
NM_004577.4(PSPH):c.612A>C (p.Gln204His)
|
|
|
|
NM_004577.4(PSPH):c.641C>G (p.Thr214Ser)
|
rs2116425690
|
|
|
NM_004577.4(PSPH):c.651A>G (p.Val217=)
|
|
|
|
NM_004577.4(PSPH):c.672A>G (p.Glu224=)
|
|
|
|
NM_004577.4(PSPH):c.673G>C (p.Glu225Gln)
|
rs536712417
|
|
|
NM_004937.3(CTNS):c.1000del (p.Thr334fs)
|
rs2142982656
|
|
|
NM_004937.3(CTNS):c.1002C>T (p.Thr334=)
|
|
|
|
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
|
|
|
|
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
|
|
|
|
NM_004937.3(CTNS):c.1014C>G (p.Leu338=)
|
|
|
|
NM_004937.3(CTNS):c.1020C>T (p.Val340=)
|
rs759909683
|
|
|
NM_004937.3(CTNS):c.1029C>A (p.Ile343=)
|
rs147428183
|
|
|
NM_004937.3(CTNS):c.1029C>T (p.Ile343=)
|
rs147428183
|
|
|
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
|
|
|
|
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
|
|
|
|
NM_004937.3(CTNS):c.1041C>G (p.Val347=)
|
rs779369414
|
|
|
NM_004937.3(CTNS):c.1041C>T (p.Val347=)
|
rs779369414
|
|
|
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
|
|
|
|
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)
|
rs748094459
|
|
|
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)
|
rs2076255711
|
|
|
NM_004937.3(CTNS):c.1053C>T (p.Ile351=)
|
rs2142982938
|
|
|
NM_004937.3(CTNS):c.1059C>T (p.His353=)
|
|
|
|
NM_004937.3(CTNS):c.105G>A (p.Glu35=)
|
rs2150904680
|
|
|
NM_004937.3(CTNS):c.1077G>A (p.Lys359=)
|
rs2142983047
|
|
|
NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)
|
rs560868487
|
|
|
NM_004937.3(CTNS):c.1086G>A (p.Gly362=)
|
rs1055176574
|
|
|
NM_004937.3(CTNS):c.1086G>T (p.Gly362=)
|
|
|
|
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
|
|
|
|
NM_004937.3(CTNS):c.117G>C (p.Ser39=)
|
rs765428193
|
|
|
NM_004937.3(CTNS):c.117G>T (p.Ser39=)
|
|
|
|
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
|
|
|
|
NM_004937.3(CTNS):c.12T>C (p.Asn4=)
|
rs550375830
|
|
|
NM_004937.3(CTNS):c.132C>T (p.Leu44=)
|
rs756058217
|
|
|
NM_004937.3(CTNS):c.135C>A (p.Thr45=)
|
|
|
|
NM_004937.3(CTNS):c.140+10T>C
|
|
|
|
NM_004937.3(CTNS):c.140+10_140+11del
|
rs755167662
|
|
|
NM_004937.3(CTNS):c.140+11G>A
|
|
|
|
NM_004937.3(CTNS):c.140+12G>C
|
|
|
|
NM_004937.3(CTNS):c.140+15C>T
|
rs2150904807
|
|
|
NM_004937.3(CTNS):c.140+19C>T
|
|
|
|
NM_004937.3(CTNS):c.140+1G>A
|
|
|
|
NM_004937.3(CTNS):c.140+1G>T
|
rs1567701415
|
|
|
NM_004937.3(CTNS):c.140+1del
|
rs2150904759
|
|
|
NM_004937.3(CTNS):c.140+20G>A
|
|
|
|
NM_004937.3(CTNS):c.140+2T>C
|
rs2075872773
|
|
|
NM_004937.3(CTNS):c.140+6T>C
|
|
|
|
NM_004937.3(CTNS):c.140+9C>T
|
rs1567701450
|
|
|
NM_004937.3(CTNS):c.141-14C>T
|
|
|
|
NM_004937.3(CTNS):c.141-1G>A
|
rs2075906916
|
|
|
NM_004937.3(CTNS):c.141-20T>C
|
|
|
|
NM_004937.3(CTNS):c.141-24T>C
|
|
|
|
NM_004937.3(CTNS):c.141-24_141-18del
|
|
|
|
NM_004937.3(CTNS):c.141-4A>G
|
rs1437667230
|
|
|
NM_004937.3(CTNS):c.141-8C>T
|
rs768912772
|
|
|
NM_004937.3(CTNS):c.150A>G (p.Leu50=)
|
|
|
|
NM_004937.3(CTNS):c.152_153insCT (p.Ala52fs)
|
rs2150906974
|
|
|
NM_004937.3(CTNS):c.156A>G (p.Ala52=)
|
rs1597623923
|
|
|
NM_004937.3(CTNS):c.159C>T (p.Thr53=)
|
rs769818124
|
|
|
NM_004937.3(CTNS):c.15G>A (p.Trp5Ter)
|
|
|
|
NM_004937.3(CTNS):c.162G>C (p.Leu54=)
|
|
|
|
NM_004937.3(CTNS):c.171T>G (p.Thr57=)
|
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|
NM_004937.3(CTNS):c.180C>T (p.Ile60=)
|
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|
|
NM_004937.3(CTNS):c.183A>G (p.Thr61=)
|
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|
|
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
|
|
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
|
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys)
|
rs1454743016
|
|
|
NM_004937.3(CTNS):c.198T>C (p.Asn66=)
|
|
|
|
NM_004937.3(CTNS):c.1A>T (p.Met1Leu)
|
rs2075650925
|
|
|
NM_004937.3(CTNS):c.204T>C (p.Thr68=)
|
|
|
|
NM_004937.3(CTNS):c.204del (p.Ile69fs)
|
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|
|
NM_004937.3(CTNS):c.206_210del (p.Ile69fs)
|
rs879758262
|
|
|
NM_004937.3(CTNS):c.219C>G (p.Pro73=)
|
|
|
|
NM_004937.3(CTNS):c.219C>T (p.Pro73=)
|
rs2150907083
|
|
|
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
|
|
|
|
NM_004937.3(CTNS):c.222T>C (p.Asp74=)
|
rs1597624144
|
|
|
NM_004937.3(CTNS):c.225+10C>A
|
rs2150907128
|
|
|
NM_004937.3(CTNS):c.225+12A>G
|
|
|
|
NM_004937.3(CTNS):c.225+1G>A
|
rs1555561049
|
|
|
NM_004937.3(CTNS):c.225+20G>A
|
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|
NM_004937.3(CTNS):c.225+3A>G
|
rs2075909295
|
|
|
NM_004937.3(CTNS):c.225+3A>T
|
|
|
|
NM_004937.3(CTNS):c.225+5G>A
|
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|
NM_004937.3(CTNS):c.225+5_225+6delinsCC
|
rs786204541
|
|
|
NM_004937.3(CTNS):c.225+5_225+8del
|
rs1555561048
|
|
|
NM_004937.3(CTNS):c.225+7A>T
|
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|
NM_004937.3(CTNS):c.225+9C>G
|
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|
|
NM_004937.3(CTNS):c.226-11C>T
|
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|
NM_004937.3(CTNS):c.226-13dup
|
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|
NM_004937.3(CTNS):c.226-14A>C
|
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|
NM_004937.3(CTNS):c.226-15C>T
|
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|
|
NM_004937.3(CTNS):c.226-1G>C
|
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|
|
NM_004937.3(CTNS):c.226-6dup
|
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|
|
NM_004937.3(CTNS):c.226-7C>G
|
|
|
|
NM_004937.3(CTNS):c.226-7C>T
|
rs2076091750
|
|
|
NM_004937.3(CTNS):c.226-8C>T
|
rs2150918919
|
|
|
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
|
|
|
|
NM_004937.3(CTNS):c.246G>A (p.Val82=)
|
rs2150918993
|
|
|
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)
|
rs1295370570
|
|
|
NM_004937.3(CTNS):c.257_258del (p.Ser86fs)
|
rs879255614
|
|
|
NM_004937.3(CTNS):c.274C>T (p.Gln92Ter)
|
rs2150919035
|
|
|
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
|
|
|
|
NM_004937.3(CTNS):c.27del (p.Phe9fs)
|
rs2150888913
|
|
|
NM_004937.3(CTNS):c.286C>T (p.Gln96Ter)
|
|
|
|
NM_004937.3(CTNS):c.288A>G (p.Gln96=)
|
|
|
|
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
|
|
|
|
NM_004937.3(CTNS):c.292dup (p.Thr98fs)
|
rs786204434
|
|
|
NM_004937.3(CTNS):c.300T>A (p.Tyr100Ter)
|
rs376042415
|
|
|
NM_004937.3(CTNS):c.300T>C (p.Tyr100=)
|
rs376042415
|
|
|
NM_004937.3(CTNS):c.306T>C (p.His102=)
|
rs2076094603
|
|
|
NM_004937.3(CTNS):c.30C>A (p.Ile10=)
|
rs2075651822
|
|
|
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
|
|
|
|
NM_004937.3(CTNS):c.314_317del (p.His105fs)
|
|
|
|
NM_004937.3(CTNS):c.323del (p.Gln108fs)
|
rs879255615
|
|
|
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
|
|
|
|
NM_004937.3(CTNS):c.329+10C>T
|
rs2150919178
|
|
|
NM_004937.3(CTNS):c.329+13C>T
|
|
|
|
NM_004937.3(CTNS):c.329+14_329+15del
|
|
|
|
NM_004937.3(CTNS):c.330-16C>T
|
|
|
|
NM_004937.3(CTNS):c.330-18C>T
|
|
|
|
NM_004937.3(CTNS):c.330-20G>A
|
|
|
|
NM_004937.3(CTNS):c.330-9_330-7del
|
rs2150919428
|
|
|
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
|
|
|
|
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)
|
rs2150919478
|
|
|
NM_004937.3(CTNS):c.354C>T (p.Ile118=)
|
rs2150919502
|
|
|
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)
|
rs2076099606
|
|
|
NM_004937.3(CTNS):c.365C>T (p.Ala122Val)
|
rs2076099841
|
|
|
NM_004937.3(CTNS):c.366C>T (p.Ala122=)
|
|
|
|
NM_004937.3(CTNS):c.372C>T (p.Ser124=)
|
|
|
|
NM_004937.3(CTNS):c.375C>T (p.Ile125=)
|
rs1277785045
|
|
|
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
|
|
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
|
NM_004937.3(CTNS):c.387G>A (p.Val129=)
|
rs2150919602
|
|
|
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
|
|
|
|
NM_004937.3(CTNS):c.405dup (p.Val136fs)
|
|
|
|
NM_004937.3(CTNS):c.40C>T (p.Leu14=)
|
|
|
|
NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)
|
rs1555558099
|
|
|
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp)
|
rs1413852868
|
|
|
NM_004937.3(CTNS):c.411C>T (p.Ala137=)
|
|
|
|
NM_004937.3(CTNS):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)
|
rs1436441738
|
|
|
NM_004937.3(CTNS):c.426C>T (p.Phe142=)
|
rs2150919725
|
|
|
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
|
|
|
|
NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)
|
rs1597647930
|
|
|
NM_004937.3(CTNS):c.433C>T (p.Gln145Ter)
|
rs2076101632
|
|
|
NM_004937.3(CTNS):c.441C>T (p.Ile147=)
|
rs2150919757
|
|
|
NM_004937.3(CTNS):c.447T>C (p.Asn149=)
|
|
|
|
NM_004937.3(CTNS):c.449G>A (p.Trp150Ter)
|
rs2076101974
|
|
|
NM_004937.3(CTNS):c.453G>A (p.Arg151=)
|
rs2150919797
|
|
|
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
|
|
|
|
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
|
|
|
|
NM_004937.3(CTNS):c.461+13G>A
|
|
|
|
NM_004937.3(CTNS):c.461+15C>T
|
|
|
|
NM_004937.3(CTNS):c.461+16G>C
|
|
|
|
NM_004937.3(CTNS):c.461+17T>C
|
|
|
|
NM_004937.3(CTNS):c.461+19T>A
|
|
|
|
NM_004937.3(CTNS):c.461+19T>C
|
|
|
|
NM_004937.3(CTNS):c.461+20G>A
|
|
|
|
NM_004937.3(CTNS):c.462-12C>T
|
|
|
|
NM_004937.3(CTNS):c.462-17C>T
|
|
|
|
NM_004937.3(CTNS):c.462-47_462-7del
|
|
|
|
NM_004937.3(CTNS):c.462-6C>T
|
|
|
|
NM_004937.3(CTNS):c.462-8C>A
|
|
|
|
NM_004937.3(CTNS):c.462-95_462-19del
|
|
|
|
NM_004937.3(CTNS):c.462-9C>T
|
|
|
|
NM_004937.3(CTNS):c.465C>T (p.Val155=)
|
|
|
|
NM_004937.3(CTNS):c.474G>A (p.Leu158=)
|
|
|
|
NM_004937.3(CTNS):c.477C>T (p.Ser159=)
|
rs2150922529
|
|
|
NM_004937.3(CTNS):c.486C>T (p.Phe162=)
|
rs1335640588
|
|
|
NM_004937.3(CTNS):c.489G>C (p.Val163=)
|
rs2150922571
|
|
|
NM_004937.3(CTNS):c.48C>T (p.Leu16=)
|
|
|
|
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
|
|
|
|
NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)
|
rs121908126
|
|
|
NM_004937.3(CTNS):c.513G>A (p.Val171=)
|
|
|
|
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
|
|
|
|
NM_004937.3(CTNS):c.517T>C (p.Tyr173His)
|
|
|
|
NM_004937.3(CTNS):c.518A>G (p.Tyr173Cys)
|
rs1555563446
|
|
|
NM_004937.3(CTNS):c.525A>C (p.Val175=)
|
|
|
|
NM_004937.3(CTNS):c.531C>T (p.Asn177=)
|
rs2150922708
|
|
|
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
|
|
|
|
NM_004937.3(CTNS):c.537C>G (p.Gly179=)
|
rs1033509163
|
|
|
NM_004937.3(CTNS):c.537C>T (p.Gly179=)
|
|
|
|
NM_004937.3(CTNS):c.539_551del (p.Leu180fs)
|
rs2150922730
|
|
|
NM_004937.3(CTNS):c.540C>T (p.Leu180=)
|
|
|
|
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)
|
rs764168489
|
|
|
NM_004937.3(CTNS):c.545G>A (p.Trp182Ter)
|
|
|
|
NM_004937.3(CTNS):c.546G>T (p.Trp182Cys)
|
rs2150922764
|
|
|
NM_004937.3(CTNS):c.552C>T (p.Pro184=)
|
rs2150922782
|
|
|
NM_004937.3(CTNS):c.555C>T (p.Tyr185=)
|
|
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
|
NM_004937.3(CTNS):c.561+12C>T
|
|
|
|
NM_004937.3(CTNS):c.561+15G>A
|
|
|
|
NM_004937.3(CTNS):c.561+18C>T
|
|
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
|
NM_004937.3(CTNS):c.561+3A>G
|
|
|
|
NM_004937.3(CTNS):c.561+7C>G
|
rs1230869706
|
|
|
NM_004937.3(CTNS):c.561+7C>T
|
|
|
|
NM_004937.3(CTNS):c.561+8C>G
|
rs2150922813
|
|
|
NM_004937.3(CTNS):c.561+8C>T
|
|
|
|
NM_004937.3(CTNS):c.562-15C>T
|
|
|
|
NM_004937.3(CTNS):c.562-17T>C
|
|
|
|
NM_004937.3(CTNS):c.562-18C>A
|
|
|
|
NM_004937.3(CTNS):c.562-1G>C
|
|
|
|
NM_004937.3(CTNS):c.562-4A>T
|
rs761366500
|
|
|
NM_004937.3(CTNS):c.562-8C>T
|
rs1194962259
|
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
|
NM_004937.3(CTNS):c.573C>T (p.Leu191=)
|
|
|
|
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
|
|
|
|
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
|
|
|
|
NM_004937.3(CTNS):c.603G>C (p.Val201=)
|
rs912410408
|
|
|
NM_004937.3(CTNS):c.606C>T (p.Asn202=)
|
rs2150923073
|
|
|
NM_004937.3(CTNS):c.61+10G>T
|
|
|
|
NM_004937.3(CTNS):c.61+17C>G
|
|
|
|
NM_004937.3(CTNS):c.61+19C>T
|
|
|
|
NM_004937.3(CTNS):c.61+1G>T
|
rs1555558116
|
|
|
NM_004937.3(CTNS):c.61+5G>A
|
rs1407498555
|
|
|
NM_004937.3(CTNS):c.61+8T>G
|
rs2150889028
|
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
|
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
|
|
|
|
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)
|
rs1555563619
|
|
|
NM_004937.3(CTNS):c.61G>T (p.Glu21Ter)
|
rs2150889009
|
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
|
NM_004937.3(CTNS):c.62-14T>G
|
|
|
|
NM_004937.3(CTNS):c.62-19T>C
|
|
|
|
NM_004937.3(CTNS):c.62-1G>A
|
rs1597619719
|
|
|
NM_004937.3(CTNS):c.62-1G>T
|
rs1597619719
|
|
|
NM_004937.3(CTNS):c.62-5T>C
|
|
|
|
NM_004937.3(CTNS):c.62-8C>T
|
rs2150904561
|
|
|
NM_004937.3(CTNS):c.636G>A (p.Ala212=)
|
|
|
|
NM_004937.3(CTNS):c.645C>T (p.Leu215=)
|
|
|
|
NM_004937.3(CTNS):c.646_647insAA (p.Thr216fs)
|
|
|
|
NM_004937.3(CTNS):c.649C>T (p.Leu217=)
|
|
|
|
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
|
|
|
|
NM_004937.3(CTNS):c.651G>A (p.Leu217=)
|
rs762581003
|
|
|
NM_004937.3(CTNS):c.651G>C (p.Leu217=)
|
rs762581003
|
|
|
NM_004937.3(CTNS):c.666G>A (p.Gln222=)
|
rs2076159145
|
|
|
NM_004937.3(CTNS):c.673C>T (p.Leu225=)
|
|
|
|
NM_004937.3(CTNS):c.675G>A (p.Leu225=)
|
|
|
|
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
|
|
|
|
NM_004937.3(CTNS):c.681+11C>T
|
|
|
|
NM_004937.3(CTNS):c.681+12C>G
|
|
|
|
NM_004937.3(CTNS):c.681+15G>T
|
|
|
|
NM_004937.3(CTNS):c.681+16dup
|
|
|
|
NM_004937.3(CTNS):c.681+17C>T
|
|
|
|
NM_004937.3(CTNS):c.681+19C>A
|
|
|
|
NM_004937.3(CTNS):c.681+22del
|
|
|
|
NM_004937.3(CTNS):c.681+2dup
|
|
|
|
NM_004937.3(CTNS):c.681+5G>A
|
|
|
|
NM_004937.3(CTNS):c.681G>A (p.Glu227=)
|
rs778414542
|
|
|
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
|
|
|
|
NM_004937.3(CTNS):c.682-10T>A
|
|
|
|
NM_004937.3(CTNS):c.682-11C>T
|
|
|
|
NM_004937.3(CTNS):c.682-16C>T
|
|
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
|
NM_004937.3(CTNS):c.682-2A>C
|
|
|
|
NM_004937.3(CTNS):c.682-3del
|
|
|
|
NM_004937.3(CTNS):c.682-3dup
|
rs2150924916
|
|
|
NM_004937.3(CTNS):c.682-5C>A
|
|
|
|
NM_004937.3(CTNS):c.682-6C>T
|
|
|
|
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu)
|
rs754201055
|
|
|
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)
|
rs200336280
|
|
|
NM_004937.3(CTNS):c.685G>T (p.Gly229Cys)
|
rs200336280
|
|
|
NM_004937.3(CTNS):c.686_699del (p.Gly229fs)
|
|
|
|
NM_004937.3(CTNS):c.690C>G (p.Gly230=)
|
|
|
|
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)
|
rs1463026342
|
|
|
NM_004937.3(CTNS):c.696C>G (p.Arg232=)
|
rs529381598
|
|
|
NM_004937.3(CTNS):c.696_697dup (p.Val233fs)
|
rs1555563982
|
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
|
NM_004937.3(CTNS):c.699G>A (p.Val233=)
|
rs2076195866
|
|
|
NM_004937.3(CTNS):c.699_700del (p.Ser234fs)
|
rs766981777
|
|
|
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
|
|
|
|
NM_004937.3(CTNS):c.711C>T (p.Ala237=)
|
|
|
|
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
|
|
|
|
NM_004937.3(CTNS):c.721C>T (p.Leu241=)
|
rs775072561
|
|
|
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
|
|
|
|
NM_004937.3(CTNS):c.729C>G (p.Leu243=)
|
rs762142619
|
|
|
NM_004937.3(CTNS):c.732G>T (p.Ala244=)
|
rs199518474
|
|
|
NM_004937.3(CTNS):c.735G>A (p.Trp245Ter)
|
rs2150925108
|
|
|
NM_004937.3(CTNS):c.738C>G (p.Leu246=)
|
rs2076197055
|
|
|
NM_004937.3(CTNS):c.741C>T (p.Phe247=)
|
|
|
|
NM_004937.3(CTNS):c.751A>G (p.Thr251Ala)
|
|
|
|
NM_004937.3(CTNS):c.751_752del (p.Thr251fs)
|
|
|
|
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)
|
rs1567713916
|
|
|
NM_004937.3(CTNS):c.768dup (p.Val257fs)
|
rs1567713938
|
|
|
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
|
|
|
|
NM_004937.3(CTNS):c.771_793del (p.Gly258fs)
|
rs759623796
|
|
|
NM_004937.3(CTNS):c.777G>A (p.Val259=)
|
|
|
|
NM_004937.3(CTNS):c.783G>T (p.Thr261=)
|
|
|
|
NM_004937.3(CTNS):c.78C>G (p.Leu26=)
|
|
|
|
NM_004937.3(CTNS):c.790C>T (p.Gln264Ter)
|
rs2076198741
|
|
|
NM_004937.3(CTNS):c.790_791del (p.Gln264fs)
|
rs2076198775
|
|
|
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
|
|
|
|
NM_004937.3(CTNS):c.798C>A (p.Leu266=)
|
rs1567714017
|
|
|
NM_004937.3(CTNS):c.798C>T (p.Leu266=)
|
rs1567714017
|
|
|
NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)
|
rs2150925336
|
|
|
NM_004937.3(CTNS):c.810C>G (p.Ser270=)
|
|
|
|
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
|
|
|
|
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)
|
rs2076199463
|
|
|
NM_004937.3(CTNS):c.819G>A (p.Lys273=)
|
rs2150925362
|
|
|
NM_004937.3(CTNS):c.81T>C (p.Thr27=)
|
|
|
|
NM_004937.3(CTNS):c.825A>G (p.Ala275=)
|
rs904979100
|
|
|
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
|
|
|
|
NM_004937.3(CTNS):c.829dup (p.Thr277fs)
|
rs752919200
|
|
|
NM_004937.3(CTNS):c.82_83del (p.Val28fs)
|
rs2150904623
|
|
|
NM_004937.3(CTNS):c.831G>A (p.Thr277=)
|
rs533147998
|
|
|
NM_004937.3(CTNS):c.834G>C (p.Leu278=)
|
|
|
|
NM_004937.3(CTNS):c.834G>T (p.Leu278=)
|
rs139519275
|
|
|
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)
|
rs2076200184
|
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
|
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
|
rs1411094034
|
|
|
NM_004937.3(CTNS):c.843T>C (p.Tyr281=)
|
rs2076200273
|
|
|
NM_004937.3(CTNS):c.852+10G>A
|
|
|
|
NM_004937.3(CTNS):c.852+14C>G
|
|
|
|
NM_004937.3(CTNS):c.852+14C>T
|
|
|
|
NM_004937.3(CTNS):c.852+14_852+15del
|
|
|
|
NM_004937.3(CTNS):c.852+14_852+34del
|
|
|
|
NM_004937.3(CTNS):c.852+17G>A
|
|
|
|
NM_004937.3(CTNS):c.852+19T>A
|
|
|
|
NM_004937.3(CTNS):c.852+1G>A
|
rs2150925483
|
|
|
NM_004937.3(CTNS):c.852+20C>T
|
|
|
|
NM_004937.3(CTNS):c.853-10_853-7del
|
rs1198120476
|
|
|
NM_004937.3(CTNS):c.853-11G>A
|
|
|
|
NM_004937.3(CTNS):c.853-13C>G
|
|
|
|
NM_004937.3(CTNS):c.853-16C>T
|
|
|
|
NM_004937.3(CTNS):c.853-18_853-7del
|
|
|
|
NM_004937.3(CTNS):c.853-1G>A
|
rs1555564588
|
|
|
NM_004937.3(CTNS):c.853-6G>T
|
rs775425630
|
|
|
NM_004937.3(CTNS):c.853-8T>C
|
|
|
|
NM_004937.3(CTNS):c.858C>T (p.Tyr286=)
|
|
|
|
NM_004937.3(CTNS):c.85_86del (p.Pro29fs)
|
|
|
|
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
|
|
|
|
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
|
|
|
|
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
|
|
|
|
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
|
|
|
|
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
|
|
|
|
NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)
|
rs917630768
|
|
|
NM_004937.3(CTNS):c.900C>T (p.Gly300=)
|
|
|
|
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
|
|
|
|
NM_004937.3(CTNS):c.909C>T (p.Leu303=)
|
rs1252160181
|
|
|
NM_004937.3(CTNS):c.90T>C (p.Pro30=)
|
rs2075870364
|
|
|
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
|
|
|
|
NM_004937.3(CTNS):c.912G>A (p.Leu304=)
|
|
|
|
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)
|
rs1263951539
|
|
|
NM_004937.3(CTNS):c.918C>T (p.Phe306=)
|
|
|
|
NM_004937.3(CTNS):c.922G>C (p.Gly308Arg)
|
rs746307931
|
|
|
NM_004937.3(CTNS):c.923G>T (p.Gly308Val)
|
|
|
|
NM_004937.3(CTNS):c.926dup (p.Ser310fs)
|
rs786204420
|
|
|
NM_004937.3(CTNS):c.930C>T (p.Ser310=)
|
rs1262456716
|
|
|
NM_004937.3(CTNS):c.936C>T (p.Ser312=)
|
|
|
|
NM_004937.3(CTNS):c.936_945del (p.Ser312fs)
|
|
|
|
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
|
|
|
|
NM_004937.3(CTNS):c.93C>T (p.Val31=)
|
rs772569260
|
|
|
NM_004937.3(CTNS):c.943C>T (p.Gln315Ter)
|
|
|
|
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
|
|
|
|
NM_004937.3(CTNS):c.954C>T (p.Leu318=)
|
rs2142981648
|
|
|
NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)
|
rs121908128
|
|
|
NM_004937.3(CTNS):c.969C>T (p.Asn323=)
|
rs121908128
|
|
|
NM_004937.3(CTNS):c.970+10C>T
|
|
|
|
NM_004937.3(CTNS):c.970+15_970+21del
|
|
|
|
NM_004937.3(CTNS):c.970+9G>A
|
rs1159271531
|
|
|
NM_004937.3(CTNS):c.970+9G>T
|
|
|
|
NM_004937.3(CTNS):c.971-12G>A
|
rs375952052
|
|
|
NM_004937.3(CTNS):c.971-12G>C
|
|
|
|
NM_004937.3(CTNS):c.971-13C>T
|
|
|
|
NM_004937.3(CTNS):c.971-13dup
|
|
|
|
NM_004937.3(CTNS):c.971-15C>T
|
|
|
|
NM_004937.3(CTNS):c.971-16C>G
|
|
|
|
NM_004937.3(CTNS):c.971-16C>T
|
|
|
|
NM_004937.3(CTNS):c.971-17C>T
|
|
|
|
NM_004937.3(CTNS):c.971-6T>G
|
|
|
|
NM_004937.3(CTNS):c.971-8_971-6del
|
|
|
|
NM_004937.3(CTNS):c.972C>T (p.Asp324=)
|
|
|
|
NM_004937.3(CTNS):c.975G>A (p.Gln325=)
|
|
|
|
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
|
|
|
|
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
|
|
|
|
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
|
|
|
|
NM_004937.3(CTNS):c.981G>T (p.Thr327=)
|
|
|
|
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
|
|
|
|
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
|
|
|
|
NM_004937.3(CTNS):c.987C>T (p.Ile329=)
|
rs2142982610
|
|
|
NM_004937.3(CTNS):c.999A>G (p.Pro333=)
|
|
|
|
NM_004937.3(CTNS):c.99G>A (p.Lys33=)
|
rs2150904661
|
|
|
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu)
|
rs1553181301
|
|
|
NM_004974.4(KCNA2):c.1015G>T (p.Val339Phe)
|
|
|
|
NM_004974.4(KCNA2):c.1018_1020del (p.Ile340del)
|
|
|
|
NM_004974.4(KCNA2):c.1022T>C (p.Leu341Pro)
|
rs2101397797
|
|
|
NM_004974.4(KCNA2):c.1028C>T (p.Ser343Phe)
|
rs1557732150
|
|
|
NM_004974.4(KCNA2):c.1028_1037dup (p.Val346_Tyr347insTer)
|
rs2101397670
|
|
|
NM_004974.4(KCNA2):c.1031dup (p.Ser344fs)
|
rs1553181298
|
|
|
NM_004974.4(KCNA2):c.1034C>T (p.Ala345Val)
|
rs2101397708
|
|
|
NM_004974.4(KCNA2):c.1036G>A (p.Val346Met)
|
|
|
|
NM_004974.4(KCNA2):c.1054G>A (p.Asp352Asn)
|
|
|
|
NM_004974.4(KCNA2):c.1056T>C (p.Asp352=)
|
|
|
|
NM_004974.4(KCNA2):c.1060C>T (p.Arg354Ter)
|
|
|
|
NM_004974.4(KCNA2):c.1065G>T (p.Glu355Asp)
|
rs1308544471
|
|
|
NM_004974.4(KCNA2):c.1067C>G (p.Ser356Cys)
|
rs1317841788
|
|
|
NM_004974.4(KCNA2):c.1071G>T (p.Gln357His)
|
|
|
|
NM_004974.4(KCNA2):c.1074C>T (p.Phe358=)
|
rs749482104
|
|
|
NM_004974.4(KCNA2):c.1080C>T (p.Ser360=)
|
rs1347753369
|
|
|
NM_004974.4(KCNA2):c.1103C>A (p.Ala368Glu)
|
rs2101397307
|
|
|
NM_004974.4(KCNA2):c.1110C>G (p.Val370=)
|
rs746352821
|
|
|
NM_004974.4(KCNA2):c.1118C>A (p.Thr373Lys)
|
|
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
|
NM_004974.4(KCNA2):c.1119A>G (p.Thr373=)
|
|
|
|
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)
|
rs1553181280
|
|
|
NM_004974.4(KCNA2):c.1127G>C (p.Gly376Ala)
|
rs1557732017
|
|
|
NM_004974.4(KCNA2):c.1129T>C (p.Tyr377His)
|
|
|
|
NM_004974.4(KCNA2):c.1144C>G (p.Pro382Ala)
|
|
|
|
NM_004974.4(KCNA2):c.1145C>T (p.Pro382Leu)
|
rs777008812
|
|
|
NM_004974.4(KCNA2):c.1147A>C (p.Thr383Pro)
|
rs2101396868
|
|
|
NM_004974.4(KCNA2):c.1149T>C (p.Thr383=)
|
|
|
|
NM_004974.4(KCNA2):c.1158G>A (p.Gly386=)
|
|
|
|
NM_004974.4(KCNA2):c.1169T>A (p.Val390Glu)
|
|
|
|
NM_004974.4(KCNA2):c.1169T>G (p.Val390Gly)
|
rs2101396730
|
|
|
NM_004974.4(KCNA2):c.1171G>T (p.Gly391Cys)
|
|
|
|
NM_004974.4(KCNA2):c.1175C>T (p.Ser392Phe)
|
rs2101396713
|
|
|
NM_004974.4(KCNA2):c.1178T>A (p.Leu393Gln)
|
|
|
|
NM_004974.4(KCNA2):c.1179A>C (p.Leu393=)
|
|
|
|
NM_004974.4(KCNA2):c.1184C>G (p.Ala395Gly)
|
|
|
|
NM_004974.4(KCNA2):c.1185G>A (p.Ala395=)
|
rs78349687
|
|
|
NM_004974.4(KCNA2):c.1185G>C (p.Ala395=)
|
rs78349687
|
|
|
NM_004974.4(KCNA2):c.1193G>A (p.Gly398Asp)
|
|
|
|
NM_004974.4(KCNA2):c.1196T>G (p.Val399Gly)
|
rs1649457707
|
|
|
NM_004974.4(KCNA2):c.1204A>G (p.Ile402Val)
|
rs1366237350
|
|
|
NM_004974.4(KCNA2):c.1205T>C (p.Ile402Thr)
|
rs2101396495
|
|
|
NM_004974.4(KCNA2):c.1207G>T (p.Ala403Ser)
|
|
|
|
NM_004974.4(KCNA2):c.1208C>T (p.Ala403Val)
|
rs1649457143
|
|
|
NM_004974.4(KCNA2):c.120A>G (p.Ser40=)
|
rs1570754076
|
|
|
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile)
|
rs2101396443
|
|
|
NM_004974.4(KCNA2):c.1211T>C (p.Leu404Ser)
|
|
|
|
NM_004974.4(KCNA2):c.1213C>T (p.Pro405Ser)
|
|
|
|
NM_004974.4(KCNA2):c.1214C>G (p.Pro405Arg)
|
rs876657389
|
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
|
NM_004974.4(KCNA2):c.1215G>C (p.Pro405=)
|
|
|
|
NM_004974.4(KCNA2):c.1216G>A (p.Val406Ile)
|
rs1553181257
|
|
|
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)
|
rs1553181257
|
|
|
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala)
|
rs1557731896
|
|
|
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser)
|
rs1557731896
|
|
|
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg)
|
rs2101396301
|
|
|
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly)
|
rs1570752696
|
|
|
NM_004974.4(KCNA2):c.1228G>A (p.Val410Met)
|
|
|
|
NM_004974.4(KCNA2):c.1242C>A (p.Asn414Lys)
|
rs749520613
|
|
|
NM_004974.4(KCNA2):c.1242C>G (p.Asn414Lys)
|
rs749520613
|
|
|
NM_004974.4(KCNA2):c.1248C>A (p.Phe416Leu)
|
rs2101396138
|
|
|
NM_004974.4(KCNA2):c.1250A>G (p.Tyr417Cys)
|
rs1557731858
|
|
|
NM_004974.4(KCNA2):c.1254C>T (p.His418=)
|
|
|
|
NM_004974.4(KCNA2):c.1255C>T (p.Arg419Trp)
|
rs1421981152
|
|
|
NM_004974.4(KCNA2):c.1256G>T (p.Arg419Leu)
|
|
|
|
NM_004974.4(KCNA2):c.1263_1266del (p.Gly423fs)
|
rs1649454214
|
|
|
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs)
|
rs1064796294
|
|
|
NM_004974.4(KCNA2):c.1275A>G (p.Glu425=)
|
rs1468166534
|
|
|
NM_004974.4(KCNA2):c.1276C>T (p.Gln426Ter)
|
|
|
|
NM_004974.4(KCNA2):c.127C>T (p.Arg43Trp)
|
rs2101404053
|
|
|
NM_004974.4(KCNA2):c.1288T>C (p.Leu430=)
|
|
|
|
NM_004974.4(KCNA2):c.1297A>G (p.Thr433Ala)
|
|
|
|
NM_004974.4(KCNA2):c.12C>T (p.Ala4=)
|
rs1570754202
|
|
|
NM_004974.4(KCNA2):c.1304G>A (p.Cys435Tyr)
|
rs1553181236
|
|
|
NM_004974.4(KCNA2):c.1304G>C (p.Cys435Ser)
|
rs1553181236
|
|
|
NM_004974.4(KCNA2):c.1311G>T (p.Lys437Asn)
|
|
|
|
NM_004974.4(KCNA2):c.1320C>T (p.Ser440=)
|
|
|
|
NM_004974.4(KCNA2):c.1338A>G (p.Lys446=)
|
|
|
|
NM_004974.4(KCNA2):c.1340G>T (p.Ser447Ile)
|
|
|
|
NM_004974.4(KCNA2):c.1354A>G (p.Thr452Ala)
|
rs765999960
|
|
|
NM_004974.4(KCNA2):c.1354A>T (p.Thr452Ser)
|
rs765999960
|
|
|
NM_004974.4(KCNA2):c.1372T>C (p.Tyr458His)
|
rs1649446402
|
|
|
NM_004974.4(KCNA2):c.1380G>T (p.Glu460Asp)
|
rs1649445890
|
|
|
NM_004974.4(KCNA2):c.1383C>T (p.Ile461=)
|
|
|
|
NM_004974.4(KCNA2):c.1389G>A (p.Glu463=)
|
|
|
|
NM_004974.4(KCNA2):c.1395A>G (p.Val465=)
|
|
|
|
NM_004974.4(KCNA2):c.1416T>C (p.Phe472=)
|
rs1181780424
|
|
|
NM_004974.4(KCNA2):c.1417A>G (p.Arg473Gly)
|
|
|
|
NM_004974.4(KCNA2):c.141G>T (p.Gln47His)
|
|
|
|
NM_004974.4(KCNA2):c.1422G>A (p.Glu474=)
|
rs2101394728
|
|
|
NM_004974.4(KCNA2):c.1431G>A (p.Leu477=)
|
|
|
|
NM_004974.4(KCNA2):c.1445G>A (p.Cys482Tyr)
|
|
|
|
NM_004974.4(KCNA2):c.1464C>T (p.Asn488=)
|
|
|
|
NM_004974.4(KCNA2):c.1499G>A (p.Ter500=)
|
|
|
|
NM_004974.4(KCNA2):c.150C>A (p.Thr50=)
|
|
|
|
NM_004974.4(KCNA2):c.151T>C (p.Leu51=)
|
rs2101403936
|
|
|
NM_004974.4(KCNA2):c.155C>T (p.Ala52Val)
|
|
|
|
NM_004974.4(KCNA2):c.15C>T (p.Thr5=)
|
|
|
|
NM_004974.4(KCNA2):c.165A>G (p.Pro55=)
|
rs2101403846
|
|
|
NM_004974.4(KCNA2):c.166G>C (p.Glu56Gln)
|
|
|
|
NM_004974.4(KCNA2):c.16G>A (p.Gly6Arg)
|
|
|
|
NM_004974.4(KCNA2):c.170C>T (p.Thr57Ile)
|
rs1649517174
|
|
|
NM_004974.4(KCNA2):c.171C>T (p.Thr57=)
|
|
|
|
NM_004974.4(KCNA2):c.172C>T (p.Leu58Phe)
|
|
|
|
NM_004974.4(KCNA2):c.181del (p.Asp61fs)
|
|
|
|
NM_004974.4(KCNA2):c.189G>T (p.Lys63Asn)
|
|
|
|
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)
|
rs763353895
|
|
|
NM_004974.4(KCNA2):c.204C>T (p.Tyr68=)
|
|
|
|
NM_004974.4(KCNA2):c.216C>T (p.Leu72=)
|
|
|
|
NM_004974.4(KCNA2):c.217C>T (p.Arg73Ter)
|
rs1570753974
|
|
|
NM_004974.4(KCNA2):c.231T>C (p.Phe77=)
|
|
|
|
NM_004974.4(KCNA2):c.235G>A (p.Asp79Asn)
|
rs747844549
|
|
|
NM_004974.4(KCNA2):c.235G>C (p.Asp79His)
|
|
|
|
NM_004974.4(KCNA2):c.235G>T (p.Asp79Tyr)
|
rs747844549
|
|
|
NM_004974.4(KCNA2):c.238C>T (p.Arg80Trp)
|
rs1448937059
|
|
|
NM_004974.4(KCNA2):c.239G>A (p.Arg80Gln)
|
rs1649513909
|
|
|
NM_004974.4(KCNA2):c.23C>A (p.Pro8Gln)
|
|
|
|
NM_004974.4(KCNA2):c.244C>T (p.Arg82Cys)
|
rs1433727837
|
|
|
NM_004974.4(KCNA2):c.245G>A (p.Arg82His)
|
rs1386301058
|
|
|
NM_004974.4(KCNA2):c.246C>T (p.Arg82=)
|
|
|
|
NM_004974.4(KCNA2):c.260C>G (p.Ala87Gly)
|
|
|
|
NM_004974.4(KCNA2):c.261C>T (p.Ala87=)
|
rs749146957
|
|
|
NM_004974.4(KCNA2):c.267G>A (p.Leu89=)
|
|
|
|
NM_004974.4(KCNA2):c.276C>T (p.Tyr92=)
|
rs1553181436
|
|
|
NM_004974.4(KCNA2):c.277C>T (p.Gln93Ter)
|
rs1649511099
|
|
|
NM_004974.4(KCNA2):c.282A>G (p.Ser94=)
|
rs1649510855
|
|
|
NM_004974.4(KCNA2):c.282_283del (p.Gly96fs)
|
rs1570753862
|
|
|
NM_004974.4(KCNA2):c.289C>T (p.Arg97Ter)
|
|
|
|
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)
|
rs1649509389
|
|
|
NM_004974.4(KCNA2):c.299G>A (p.Arg100Gln)
|
rs1649509246
|
|
|
NM_004974.4(KCNA2):c.308A>C (p.Asn103Thr)
|
|
|
|
NM_004974.4(KCNA2):c.308A>G (p.Asn103Ser)
|
rs1361080553
|
|
|
NM_004974.4(KCNA2):c.315C>T (p.Pro105=)
|
rs2101402754
|
|
|
NM_004974.4(KCNA2):c.317T>C (p.Leu106Ser)
|
rs2101402741
|
|
|
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)
|
rs1649507829
|
|
|
NM_004974.4(KCNA2):c.340C>A (p.Arg114=)
|
|
|
|
NM_004974.4(KCNA2):c.341G>A (p.Arg114Gln)
|
|
|
|
NM_004974.4(KCNA2):c.351G>T (p.Glu117Asp)
|
rs1649507257
|
|
|
NM_004974.4(KCNA2):c.356G>A (p.Gly119Glu)
|
|
|
|
NM_004974.4(KCNA2):c.356G>C (p.Gly119Ala)
|
|
|
|
NM_004974.4(KCNA2):c.364G>A (p.Ala122Thr)
|
rs1366378482
|
|
|
NM_004974.4(KCNA2):c.365C>T (p.Ala122Val)
|
|
|
|
NM_004974.4(KCNA2):c.372G>C (p.Glu124Asp)
|
|
|
|
NM_004974.4(KCNA2):c.380G>A (p.Arg127Gln)
|
|
|
|
NM_004974.4(KCNA2):c.384A>G (p.Glu128=)
|
|
|
|
NM_004974.4(KCNA2):c.38C>T (p.Ala13Val)
|
|
|
|
NM_004974.4(KCNA2):c.412C>T (p.Arg138Cys)
|
|
|
|
NM_004974.4(KCNA2):c.422C>A (p.Pro141His)
|
rs1649502580
|
|
|
NM_004974.4(KCNA2):c.43C>G (p.Leu15Val)
|
rs1649522982
|
|
|
NM_004974.4(KCNA2):c.443_454del (p.Gln148_Leu151del)
|
rs2101401796
|
|
|
NM_004974.4(KCNA2):c.448T>C (p.Trp150Arg)
|
rs1649500367
|
|
|
NM_004974.4(KCNA2):c.450G>T (p.Trp150Cys)
|
rs2101401817
|
|
|
NM_004974.4(KCNA2):c.466C>T (p.Pro156Ser)
|
rs1649498927
|
|
|
NM_004974.4(KCNA2):c.468A>T (p.Pro156=)
|
|
|
|
NM_004974.4(KCNA2):c.46C>T (p.Pro16Ser)
|
rs1570754155
|
|
|
NM_004974.4(KCNA2):c.47C>G (p.Pro16Arg)
|
rs1649522718
|
|
|
NM_004974.4(KCNA2):c.480G>T (p.Gly160=)
|
|
|
|
NM_004974.4(KCNA2):c.485C>A (p.Ala162Asp)
|
|
|
|
NM_004974.4(KCNA2):c.488G>A (p.Arg163Lys)
|
|
|
|
NM_004974.4(KCNA2):c.490A>G (p.Ile164Val)
|
|
|
|
NM_004974.4(KCNA2):c.494T>A (p.Ile165Lys)
|
|
|
|
NM_004974.4(KCNA2):c.513G>T (p.Met171Ile)
|
|
|
|
NM_004974.4(KCNA2):c.520C>A (p.Leu174Met)
|
rs2101401415
|
|
|
NM_004974.4(KCNA2):c.522G>C (p.Leu174=)
|
rs1649495668
|
|
|
NM_004974.4(KCNA2):c.531T>A (p.Ile177=)
|
|
|
|
NM_004974.4(KCNA2):c.534C>A (p.Val178=)
|
|
|
|
NM_004974.4(KCNA2):c.536G>A (p.Ser179Asn)
|
rs2101401302
|
|
|
NM_004974.4(KCNA2):c.537C>T (p.Ser179=)
|
|
|
|
NM_004974.4(KCNA2):c.53A>G (p.His18Arg)
|
|
|
|
NM_004974.4(KCNA2):c.546G>A (p.Leu182=)
|
rs2101401198
|
|
|
NM_004974.4(KCNA2):c.547G>A (p.Glu183Lys)
|
rs1553181398
|
|
|
NM_004974.4(KCNA2):c.553T>C (p.Leu185=)
|
|
|
|
NM_004974.4(KCNA2):c.559A>G (p.Ile187Val)
|
|
|
|
NM_004974.4(KCNA2):c.566G>A (p.Arg189Gln)
|
|
|
|
NM_004974.4(KCNA2):c.569A>T (p.Asp190Val)
|
|
|
|
NM_004974.4(KCNA2):c.576T>C (p.Asn192=)
|
rs1438869224
|
|
|
NM_004974.4(KCNA2):c.582C>T (p.Asp194=)
|
rs2101400875
|
|
|
NM_004974.4(KCNA2):c.587A>G (p.His196Arg)
|
|
|
|
NM_004974.4(KCNA2):c.592A>G (p.Ser198Gly)
|
rs1649489553
|
|
|
NM_004974.4(KCNA2):c.611C>G (p.Thr204Ser)
|
|
|
|
NM_004974.4(KCNA2):c.611C>T (p.Thr204Ile)
|
rs1421276694
|
|
|
NM_004974.4(KCNA2):c.614A>T (p.Tyr205Phe)
|
|
|
|
NM_004974.4(KCNA2):c.61G>A (p.Asp21Asn)
|
|
|
|
NM_004974.4(KCNA2):c.622A>G (p.Ser208Gly)
|
|
|
|
NM_004974.4(KCNA2):c.625A>G (p.Thr209Ala)
|
rs1649486218
|
|
|
NM_004974.4(KCNA2):c.626C>T (p.Thr209Ile)
|
|
|
|
NM_004974.4(KCNA2):c.627del (p.Ile210fs)
|
rs1649486083
|
|
|
NM_004974.4(KCNA2):c.628A>G (p.Ile210Val)
|
rs1649485938
|
|
|
NM_004974.4(KCNA2):c.630C>T (p.Ile210=)
|
rs761112803
|
|
|
NM_004974.4(KCNA2):c.631G>A (p.Gly211Arg)
|
rs149727427
|
|
|
NM_004974.4(KCNA2):c.637C>T (p.Gln213Ter)
|
|
|
|
NM_004974.4(KCNA2):c.647C>T (p.Thr216Ile)
|
|
|
|
NM_004974.4(KCNA2):c.650C>A (p.Ser217Tyr)
|
|
|
|
NM_004974.4(KCNA2):c.653dup (p.Thr219fs)
|
|
|
|
NM_004974.4(KCNA2):c.656C>A (p.Thr219Lys)
|
|
|
|
NM_004974.4(KCNA2):c.663T>G (p.Pro221=)
|
|
|
|
NM_004974.4(KCNA2):c.673G>A (p.Val225Ile)
|
|
|
|
NM_004974.4(KCNA2):c.680C>T (p.Thr227Ile)
|
rs2101400149
|
|
|
NM_004974.4(KCNA2):c.684C>T (p.Leu228=)
|
|
|
|
NM_004974.4(KCNA2):c.684_685del (p.Cys229fs)
|
rs1649483920
|
|
|
NM_004974.4(KCNA2):c.686G>A (p.Cys229Tyr)
|
rs2101400052
|
|
|
NM_004974.4(KCNA2):c.687C>T (p.Cys229=)
|
|
|
|
NM_004974.4(KCNA2):c.692T>C (p.Ile231Thr)
|
|
|
|
NM_004974.4(KCNA2):c.695G>C (p.Trp232Ser)
|
rs1570753354
|
|
|
NM_004974.4(KCNA2):c.69T>C (p.Tyr23=)
|
|
|
|
NM_004974.4(KCNA2):c.700T>C (p.Ser234Pro)
|
rs2101399899
|
|
|
NM_004974.4(KCNA2):c.711C>T (p.Phe237=)
|
rs776028782
|
|
|
NM_004974.4(KCNA2):c.717G>A (p.Val239=)
|
|
|
|
NM_004974.4(KCNA2):c.71A>C (p.Asp24Ala)
|
|
|
|
NM_004974.4(KCNA2):c.720_721del (p.Arg240fs)
|
|
|
|
NM_004974.4(KCNA2):c.727G>C (p.Ala243Pro)
|
|
|
|
NM_004974.4(KCNA2):c.730T>C (p.Cys244Arg)
|
|
|
|
NM_004974.4(KCNA2):c.731G>A (p.Cys244Tyr)
|
rs2101399724
|
|
|
NM_004974.4(KCNA2):c.737G>T (p.Ser246Ile)
|
rs1649481724
|
|
|
NM_004974.4(KCNA2):c.746G>C (p.Gly249Ala)
|
|
|
|
NM_004974.4(KCNA2):c.747C>T (p.Gly249=)
|
|
|
|
NM_004974.4(KCNA2):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_004974.4(KCNA2):c.761T>A (p.Ile254Asn)
|
rs1649480102
|
|
|
NM_004974.4(KCNA2):c.764T>A (p.Met255Lys)
|
|
|
|
NM_004974.4(KCNA2):c.765_773del (p.Met255_Ile257del)
|
rs2101399429
|
|
|
NM_004974.4(KCNA2):c.767A>T (p.Asn256Ile)
|
rs2101399466
|
|
|
NM_004974.4(KCNA2):c.773T>A (p.Ile258Asn)
|
|
|
|
NM_004974.4(KCNA2):c.776A>C (p.Asp259Ala)
|
rs1649479585
|
|
|
NM_004974.4(KCNA2):c.781G>T (p.Val261Leu)
|
|
|
|
NM_004974.4(KCNA2):c.782T>C (p.Val261Ala)
|
rs1649479037
|
|
|
NM_004974.4(KCNA2):c.787A>G (p.Ile263Val)
|
|
|
|
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr)
|
rs786205231
|
|
|
NM_004974.4(KCNA2):c.789C>A (p.Ile263=)
|
rs2101399331
|
|
|
NM_004974.4(KCNA2):c.806C>T (p.Thr269Ile)
|
rs2101399201
|
|
|
NM_004974.4(KCNA2):c.808C>T (p.Leu270=)
|
|
|
|
NM_004974.4(KCNA2):c.808del (p.Leu270fs)
|
rs2101399144
|
|
|
NM_004974.4(KCNA2):c.815dup (p.Glu273fs)
|
|
|
|
NM_004974.4(KCNA2):c.841G>T (p.Ala281Ser)
|
rs753926939
|
|
|
NM_004974.4(KCNA2):c.844C>T (p.Gln282Ter)
|
rs1570753182
|
|
|
NM_004974.4(KCNA2):c.851G>A (p.Gly284Asp)
|
rs1246925002
|
|
|
NM_004974.4(KCNA2):c.852C>A (p.Gly284=)
|
rs779997835
|
|
|
NM_004974.4(KCNA2):c.861_862del (p.Met288fs)
|
|
|
|
NM_004974.4(KCNA2):c.863T>C (p.Met288Thr)
|
|
|
|
NM_004974.4(KCNA2):c.86A>C (p.His29Pro)
|
|
|
|
NM_004974.4(KCNA2):c.87C>T (p.His29=)
|
rs2101404284
|
|
|
NM_004974.4(KCNA2):c.880C>T (p.Arg294Cys)
|
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
|
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
|
|
|
|
NM_004974.4(KCNA2):c.888C>T (p.Ile296=)
|
|
|
|
NM_004974.4(KCNA2):c.889C>T (p.Arg297Trp)
|
rs1649473972
|
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
|
NM_004974.4(KCNA2):c.891G>C (p.Arg297=)
|
|
|
|
NM_004974.4(KCNA2):c.894_895delinsAC (p.Val299Leu)
|
|
|
|
NM_004974.4(KCNA2):c.895G>C (p.Val299Leu)
|
rs1553181334
|
|
|
NM_004974.4(KCNA2):c.900A>C (p.Arg300Ser)
|
|
|
|
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)
|
rs2101398595
|
|
|
NM_004974.4(KCNA2):c.905_906del (p.Val301_Phe302insTer)
|
rs2101398557
|
|
|
NM_004974.4(KCNA2):c.918G>A (p.Lys306=)
|
|
|
|
NM_004974.4(KCNA2):c.919T>G (p.Leu307Val)
|
|
|
|
NM_004974.4(KCNA2):c.920T>G (p.Leu307Trp)
|
rs1649471614
|
|
|
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)
|
rs2101398407
|
|
|
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
|
|
|
|
NM_004974.4(KCNA2):c.929A>C (p.His310Pro)
|
rs1649470988
|
|
|
NM_004974.4(KCNA2):c.933C>T (p.Ser311=)
|
rs1649470586
|
|
|
NM_004974.4(KCNA2):c.937G>T (p.Gly313Cys)
|
rs2101398263
|
|
|
NM_004974.4(KCNA2):c.939T>C (p.Gly313=)
|
|
|
|
NM_004974.4(KCNA2):c.941T>C (p.Leu314Pro)
|
|
|
|
NM_004974.4(KCNA2):c.945G>T (p.Gln315His)
|
|
|
|
NM_004974.4(KCNA2):c.957G>A (p.Gln319=)
|
rs2101398216
|
|
|
NM_004974.4(KCNA2):c.960C>G (p.Thr320=)
|
|
|
|
NM_004974.4(KCNA2):c.961C>T (p.Leu321Phe)
|
rs1557732226
|
|
|
NM_004974.4(KCNA2):c.974T>A (p.Met325Lys)
|
rs2101398110
|
|
|
NM_004974.4(KCNA2):c.980A>T (p.Glu327Val)
|
rs2101398077
|
|
|
NM_004974.4(KCNA2):c.982T>C (p.Leu328=)
|
|
|
|
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
|
|
|
|
NM_004974.4(KCNA2):c.991C>T (p.Leu331=)
|
rs2101397993
|
|
|
NM_004974.4(KCNA2):c.997T>C (p.Phe333Leu)
|
rs1557732183
|
|
|
NM_004975.4(KCNB1):c.1000C>T (p.Leu334Phe)
|
|
|
|
NM_004975.4(KCNB1):c.1002C>G (p.Leu334=)
|
|
|
|
NM_004975.4(KCNB1):c.1006C>T (p.Leu336Phe)
|
rs2146813900
|
|
|
NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro)
|
rs1984255406
|
|
|
NM_004975.4(KCNB1):c.101G>A (p.Arg34His)
|
rs2122803857
|
|
|
NM_004975.4(KCNB1):c.102C>T (p.Arg34=)
|
rs2122803849
|
|
|
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
|
|
|
|
NM_004975.4(KCNB1):c.1051T>G (p.Phe351Val)
|
|
|
|
NM_004975.4(KCNB1):c.1052T>C (p.Phe351Ser)
|
rs2146813862
|
|
|
NM_004975.4(KCNB1):c.1062G>A (p.Lys354=)
|
|
|
|
NM_004975.4(KCNB1):c.1065_1066delinsAT (p.Asp355_Glu356delinsGluTer)
|
rs2146813849
|
|
|
NM_004975.4(KCNB1):c.1079del (p.Lys360fs)
|
|
|
|
NM_004975.4(KCNB1):c.1080G>A (p.Lys360=)
|
|
|
|
NM_004975.4(KCNB1):c.1080G>C (p.Lys360Asn)
|
rs2146813828
|
|
|
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)
|
rs1555889103
|
|
|
NM_004975.4(KCNB1):c.108C>T (p.Asn36=)
|
|
|
|
NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)
|
rs1569017174
|
|
|
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1107G>A (p.Trp369Ter)
|
rs2146813797
|
|
|
NM_004975.4(KCNB1):c.1112CCA[1] (p.Thr372del)
|
|
|
|
NM_004975.4(KCNB1):c.1119C>T (p.Ile373=)
|
rs2146813780
|
|
|
NM_004975.4(KCNB1):c.1123A>G (p.Met375Val)
|
rs1984250919
|
|
|
NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile)
|
rs1569017148
|
|
|
NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val)
|
rs1984249721
|
|
|
NM_004975.4(KCNB1):c.1137G>A (p.Gly379=)
|
rs372561609
|
|
|
NM_004975.4(KCNB1):c.1139A>C (p.Tyr380Ser)
|
|
|
|
NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)
|
rs1569017114
|
|
|
NM_004975.4(KCNB1):c.1143A>T (p.Gly381=)
|
rs1569017109
|
|
|
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val)
|
rs1984248540
|
|
|
NM_004975.4(KCNB1):c.1146C>T (p.Asp382=)
|
|
|
|
NM_004975.4(KCNB1):c.1161T>C (p.Thr387=)
|
rs1984247753
|
|
|
NM_004975.4(KCNB1):c.1169G>A (p.Gly390Glu)
|
rs2146813695
|
|
|
NM_004975.4(KCNB1):c.1170G>A (p.Gly390=)
|
|
|
|
NM_004975.4(KCNB1):c.1174A>G (p.Ile392Val)
|
|
|
|
NM_004975.4(KCNB1):c.117del (p.Leu40fs)
|
rs1601162716
|
|
|
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
|
|
|
|
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)
|
rs1555889084
|
|
|
NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)
|
rs1569017045
|
|
|
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
|
|
|
|
NM_004975.4(KCNB1):c.1206C>G (p.Val402=)
|
rs2146813631
|
|
|
NM_004975.4(KCNB1):c.1210G>A (p.Val404Met)
|
rs1984244898
|
|
|
NM_004975.4(KCNB1):c.1210G>T (p.Val404Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)
|
rs1601071099
|
|
|
NM_004975.4(KCNB1):c.1218T>C (p.Ala406=)
|
|
|
|
NM_004975.4(KCNB1):c.1223C>G (p.Pro408Arg)
|
rs2146813607
|
|
|
NM_004975.4(KCNB1):c.1229C>T (p.Pro410Leu)
|
rs2146813598
|
|
|
NM_004975.4(KCNB1):c.122C>T (p.Ala41Val)
|
rs1980525336
|
|
|
NM_004975.4(KCNB1):c.1231A>G (p.Ile411Val)
|
|
|
|
NM_004975.4(KCNB1):c.1236C>T (p.Ile412=)
|
|
|
|
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
|
rs1984243311
|
|
|
NM_004975.4(KCNB1):c.1244del (p.Asn415fs)
|
|
|
|
NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu)
|
rs1984242860
|
|
|
NM_004975.4(KCNB1):c.1249T>C (p.Ser417Pro)
|
rs2146813554
|
|
|
NM_004975.4(KCNB1):c.126C>G (p.His42Gln)
|
rs1568658526
|
|
|
NM_004975.4(KCNB1):c.1288A>G (p.Ile430Val)
|
|
|
|
NM_004975.4(KCNB1):c.1289T>C (p.Ile430Thr)
|
|
|
|
NM_004975.4(KCNB1):c.1295G>A (p.Arg432Gln)
|
|
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
|
NM_004975.4(KCNB1):c.12C>T (p.Gly4=)
|
|
|
|
NM_004975.4(KCNB1):c.1338A>T (p.Val446=)
|
rs2146813471
|
|
|
NM_004975.4(KCNB1):c.1343T>C (p.Met448Thr)
|
rs1984239884
|
|
|
NM_004975.4(KCNB1):c.1344G>A (p.Met448Ile)
|
rs1984239766
|
|
|
NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp)
|
rs1984239652
|
|
|
NM_004975.4(KCNB1):c.1347C>T (p.Asn449=)
|
|
|
|
NM_004975.4(KCNB1):c.1350G>A (p.Met450Ile)
|
|
|
|
NM_004975.4(KCNB1):c.1358C>T (p.Ala453Val)
|
rs2146813430
|
|
|
NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly)
|
rs368043123
|
|
|
NM_004975.4(KCNB1):c.1385A>C (p.Asp462Ala)
|
|
|
|
NM_004975.4(KCNB1):c.1393G>A (p.Val465Ile)
|
rs1294696493
|
|
|
NM_004975.4(KCNB1):c.1394T>G (p.Val465Gly)
|
rs2015314520
|
|
|
NM_004975.4(KCNB1):c.1397A>C (p.Glu466Ala)
|
rs2146813382
|
|
|
NM_004975.4(KCNB1):c.1401A>T (p.Lys467Asn)
|
|
|
|
NM_004975.4(KCNB1):c.1403A>G (p.Asn468Ser)
|
|
|
|
NM_004975.4(KCNB1):c.1408G>A (p.Glu470Lys)
|
|
|
|
NM_004975.4(KCNB1):c.1410G>T (p.Glu470Asp)
|
|
|
|
NM_004975.4(KCNB1):c.1418G>A (p.Gly473Asp)
|
|
|
|
NM_004975.4(KCNB1):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_004975.4(KCNB1):c.1446C>A (p.His482Gln)
|
rs750701951
|
|
|
NM_004975.4(KCNB1):c.1449G>T (p.Leu483Phe)
|
|
|
|
NM_004975.4(KCNB1):c.1458C>G (p.Asn486Lys)
|
rs1388412501
|
|
|
NM_004975.4(KCNB1):c.1485G>A (p.Leu495=)
|
|
|
|
NM_004975.4(KCNB1):c.1496G>C (p.Ser499Thr)
|
rs1984232770
|
|
|
NM_004975.4(KCNB1):c.1518C>G (p.Thr506=)
|
|
|
|
NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val)
|
rs767889610
|
|
|
NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu)
|
rs2122803715
|
|
|
NM_004975.4(KCNB1):c.1544C>T (p.Ala515Val)
|
rs1159101104
|
|
|
NM_004975.4(KCNB1):c.1545C>T (p.Ala515=)
|
rs2146813194
|
|
|
NM_004975.4(KCNB1):c.1549T>C (p.Ser517Pro)
|
rs2146813186
|
|
|
NM_004975.4(KCNB1):c.154C>T (p.Leu52=)
|
|
|
|
NM_004975.4(KCNB1):c.1565A>T (p.Gln522Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1575C>T (p.Asn525=)
|
|
|
|
NM_004975.4(KCNB1):c.157C>A (p.Pro53Thr)
|
|
|
|
NM_004975.4(KCNB1):c.1581G>A (p.Gln527=)
|
|
|
|
NM_004975.4(KCNB1):c.1593C>T (p.Asp531=)
|
|
|
|
NM_004975.4(KCNB1):c.1597T>C (p.Tyr533His)
|
rs1984228232
|
|
|
NM_004975.4(KCNB1):c.1617C>T (p.Thr539=)
|
rs2146813087
|
|
|
NM_004975.4(KCNB1):c.1628C>A (p.Pro543His)
|
rs1251785989
|
|
|
NM_004975.4(KCNB1):c.1628C>T (p.Pro543Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1629C>T (p.Pro543=)
|
|
|
|
NM_004975.4(KCNB1):c.1641C>T (p.Thr547=)
|
rs1490389656
|
|
|
NM_004975.4(KCNB1):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_004975.4(KCNB1):c.1676A>G (p.Glu559Gly)
|
|
|
|
NM_004975.4(KCNB1):c.1692T>C (p.Ser564=)
|
rs2146812969
|
|
|
NM_004975.4(KCNB1):c.16A>G (p.Thr6Ala)
|
|
|
|
NM_004975.4(KCNB1):c.1700G>A (p.Ser567Asn)
|
|
|
|
NM_004975.4(KCNB1):c.1702C>A (p.Pro568Thr)
|
|
|
|
NM_004975.4(KCNB1):c.1704C>G (p.Pro568=)
|
rs539550218
|
|
|
NM_004975.4(KCNB1):c.1704C>T (p.Pro568=)
|
rs539550218
|
|
|
NM_004975.4(KCNB1):c.1705G>C (p.Val569Leu)
|
|
|
|
NM_004975.4(KCNB1):c.1723C>G (p.Arg575Gly)
|
rs947355756
|
|
|
NM_004975.4(KCNB1):c.1724G>T (p.Arg575Leu)
|
rs544069848
|
|
|
NM_004975.4(KCNB1):c.1727C>G (p.Thr576Arg)
|
rs1355278265
|
|
|
NM_004975.4(KCNB1):c.1738A>G (p.Ile580Val)
|
|
|
|
NM_004975.4(KCNB1):c.1748G>A (p.Arg583Gln)
|
|
|
|
NM_004975.4(KCNB1):c.1748G>C (p.Arg583Pro)
|
|
|
|
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn)
|
rs2146812849
|
|
|
NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs)
|
rs1984217696
|
|
|
NM_004975.4(KCNB1):c.1800G>A (p.Glu600=)
|
rs1290919811
|
|
|
NM_004975.4(KCNB1):c.1817A>G (p.His606Arg)
|
rs2146812820
|
|
|
NM_004975.4(KCNB1):c.182G>A (p.Arg61His)
|
|
|
|
NM_004975.4(KCNB1):c.1839C>T (p.Pro613=)
|
|
|
|
NM_004975.4(KCNB1):c.183C>T (p.Arg61=)
|
|
|
|
NM_004975.4(KCNB1):c.1841G>A (p.Ser614Asn)
|
|
|
|
NM_004975.4(KCNB1):c.1843_1862del (p.Lys615fs)
|
rs2146812741
|
|
|
NM_004975.4(KCNB1):c.1847C>T (p.Thr616Ile)
|
rs2229006
|
|
|
NM_004975.4(KCNB1):c.1850G>A (p.Gly617Glu)
|
|
|
|
NM_004975.4(KCNB1):c.1851G>A (p.Gly617=)
|
rs2146812770
|
|
|
NM_004975.4(KCNB1):c.1853G>A (p.Gly618Asp)
|
|
|
|
NM_004975.4(KCNB1):c.1853G>T (p.Gly618Val)
|
rs771932289
|
|
|
NM_004975.4(KCNB1):c.1863C>T (p.Ala621=)
|
rs2146812733
|
|
|
NM_004975.4(KCNB1):c.1869A>G (p.Glu623=)
|
|
|
|
NM_004975.4(KCNB1):c.1874G>A (p.Gly625Asp)
|
rs2146812721
|
|
|
NM_004975.4(KCNB1):c.1879_1880delinsTT (p.Arg627Leu)
|
rs2146812716
|
|
|
NM_004975.4(KCNB1):c.1880G>A (p.Arg627Gln)
|
rs754927664
|
|
|
NM_004975.4(KCNB1):c.1880G>T (p.Arg627Leu)
|
rs754927664
|
|
|
NM_004975.4(KCNB1):c.1883G>A (p.Gly628Glu)
|
|
|
|
NM_004975.4(KCNB1):c.1891G>A (p.Gly631Ser)
|
|
|
|
NM_004975.4(KCNB1):c.1891G>T (p.Gly631Cys)
|
rs1433173706
|
|
|
NM_004975.4(KCNB1):c.1896C>T (p.Ala632=)
|
rs1420669551
|
|
|
NM_004975.4(KCNB1):c.1899T>G (p.Ser633Arg)
|
|
|
|
NM_004975.4(KCNB1):c.1907G>C (p.Arg636Thr)
|
rs2146812675
|
|
|
NM_004975.4(KCNB1):c.1912G>T (p.Val638Leu)
|
rs756972062
|
|
|
NM_004975.4(KCNB1):c.1926C>T (p.Pro642=)
|
|
|
|
NM_004975.4(KCNB1):c.1935T>C (p.Asp645=)
|
|
|
|
NM_004975.4(KCNB1):c.1935T>G (p.Asp645Glu)
|
rs763718208
|
|
|
NM_004975.4(KCNB1):c.1940G>A (p.Ser647Asn)
|
rs760648723
|
|
|
NM_004975.4(KCNB1):c.1941C>G (p.Ser647Arg)
|
|
|
|
NM_004975.4(KCNB1):c.1946A>G (p.His649Arg)
|
|
|
|
NM_004975.4(KCNB1):c.1951A>G (p.Ser651Gly)
|
|
|
|
NM_004975.4(KCNB1):c.1971del (p.Lys658fs)
|
|
|
|
NM_004975.4(KCNB1):c.1973A>G (p.Lys658Arg)
|
|
|
|
NM_004975.4(KCNB1):c.1981A>G (p.Met661Val)
|
rs1392516083
|
|
|
NM_004975.4(KCNB1):c.1982T>A (p.Met661Lys)
|
|
|
|
NM_004975.4(KCNB1):c.2008C>T (p.Arg670Ter)
|
rs1984206797
|
|
|
NM_004975.4(KCNB1):c.2011G>T (p.Ala671Ser)
|
|
|
|
NM_004975.4(KCNB1):c.2028C>G (p.Phe676Leu)
|
rs755628300
|
|
|
NM_004975.4(KCNB1):c.2034G>T (p.Glu678Asp)
|
|
|
|
NM_004975.4(KCNB1):c.203C>A (p.Ser68Ter)
|
|
|
|
NM_004975.4(KCNB1):c.2040C>T (p.Asp680=)
|
|
|
|
NM_004975.4(KCNB1):c.2051T>A (p.Leu684His)
|
|
|
|
NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro)
|
rs1601069788
|
|
|
NM_004975.4(KCNB1):c.2067G>T (p.Gly689=)
|
|
|
|
NM_004975.4(KCNB1):c.2075A>G (p.His692Arg)
|
|
|
|
NM_004975.4(KCNB1):c.2079C>G (p.Asp693Glu)
|
|
|
|
NM_004975.4(KCNB1):c.2096G>A (p.Gly699Glu)
|
|
|
|
NM_004975.4(KCNB1):c.2097G>T (p.Gly699=)
|
rs749718924
|
|
|
NM_004975.4(KCNB1):c.2103T>C (p.Ala701=)
|
|
|
|
NM_004975.4(KCNB1):c.2105C>A (p.Ala702Glu)
|
rs144379782
|
|
|
NM_004975.4(KCNB1):c.2107G>T (p.Ala703Ser)
|
|
|
|
NM_004975.4(KCNB1):c.2116G>T (p.Ala706Ser)
|
rs779750227
|
|
|
NM_004975.4(KCNB1):c.2118T>C (p.Ala706=)
|
rs2146812300
|
|
|
NM_004975.4(KCNB1):c.2124G>A (p.Leu708=)
|
rs1207155153
|
|
|
NM_004975.4(KCNB1):c.2128T>A (p.Cys710Ser)
|
|
|
|
NM_004975.4(KCNB1):c.2129G>A (p.Cys710Tyr)
|
|
|
|
NM_004975.4(KCNB1):c.2134dup (p.Thr712fs)
|
|
|
|
NM_004975.4(KCNB1):c.2143G>C (p.Asp715His)
|
rs1601069538
|
|
|
NM_004975.4(KCNB1):c.2151T>C (p.Ala717=)
|
rs2146812219
|
|
|
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
|
|
|
|
NM_004975.4(KCNB1):c.2200C>A (p.Pro734Thr)
|
rs1214997887
|
|
|
NM_004975.4(KCNB1):c.2201C>G (p.Pro734Arg)
|
|
|
|
NM_004975.4(KCNB1):c.2201C>T (p.Pro734Leu)
|
|
|
|
NM_004975.4(KCNB1):c.2202C>A (p.Pro734=)
|
|
|
|
NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu)
|
rs1984193843
|
|
|
NM_004975.4(KCNB1):c.2206C>A (p.Arg736=)
|
|
|
|
NM_004975.4(KCNB1):c.2206C>G (p.Arg736Gly)
|
|
|
|
NM_004975.4(KCNB1):c.2206C>T (p.Arg736Trp)
|
rs754428005
|
|
|
NM_004975.4(KCNB1):c.2206del (p.Arg736fs)
|
rs759902465
|
|
|
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
|
|
|
|
NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro)
|
rs151175979
|
|
|
NM_004975.4(KCNB1):c.2234C>T (p.Ala745Val)
|
rs1984191107
|
|
|
NM_004975.4(KCNB1):c.2235G>A (p.Ala745=)
|
|
|
|
NM_004975.4(KCNB1):c.2238C>T (p.Phe746=)
|
|
|
|
NM_004975.4(KCNB1):c.2238_2243del (p.Asn747_Phe748del)
|
|
|
|
NM_004975.4(KCNB1):c.2250G>C (p.Ala750=)
|
rs368736609
|
|
|
NM_004975.4(KCNB1):c.2252G>T (p.Gly751Val)
|
rs1451585001
|
|
|
NM_004975.4(KCNB1):c.2267T>C (p.Ile756Thr)
|
rs1239521037
|
|
|
NM_004975.4(KCNB1):c.2269G>A (p.Asp757Asn)
|
|
|
|
NM_004975.4(KCNB1):c.2272G>A (p.Ala758Thr)
|
rs774577428
|
|
|
NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser)
|
rs774577428
|
|
|
NM_004975.4(KCNB1):c.2274A>T (p.Ala758=)
|
|
|
|
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
|
|
|
|
NM_004975.4(KCNB1):c.228C>T (p.Tyr76=)
|
|
|
|
NM_004975.4(KCNB1):c.2298G>C (p.Leu766=)
|
|
|
|
NM_004975.4(KCNB1):c.2306G>A (p.Ser769Asn)
|
rs1209493320
|
|
|
NM_004975.4(KCNB1):c.2306G>T (p.Ser769Ile)
|
rs1209493320
|
|
|
NM_004975.4(KCNB1):c.2312A>T (p.Asp771Val)
|
rs1304300872
|
|
|
NM_004975.4(KCNB1):c.2313C>T (p.Asp771=)
|
|
|
|
NM_004975.4(KCNB1):c.2315C>A (p.Ser772Tyr)
|
rs1445771227
|
|
|
NM_004975.4(KCNB1):c.2319C>T (p.Ser773=)
|
|
|
|
NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)
|
rs530927636
|
|
|
NM_004975.4(KCNB1):c.2324C>T (p.Pro775Leu)
|
|
|
|
NM_004975.4(KCNB1):c.2325C>G (p.Pro775=)
|
rs778951965
|
|
|
NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly)
|
rs1984182896
|
|
|
NM_004975.4(KCNB1):c.2330G>T (p.Ser777Ile)
|
|
|
|
NM_004975.4(KCNB1):c.2340G>A (p.Gly780=)
|
rs1410171749
|
|
|
NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser)
|
rs751639377
|
|
|
NM_004975.4(KCNB1):c.235G>A (p.Asp79Asn)
|
|
|
|
NM_004975.4(KCNB1):c.2363C>T (p.Thr788Met)
|
rs140932985
|
|
|
NM_004975.4(KCNB1):c.2366G>A (p.Gly789Glu)
|
|
|
|
NM_004975.4(KCNB1):c.2369C>T (p.Thr790Ile)
|
|
|
|
NM_004975.4(KCNB1):c.2370A>G (p.Thr790=)
|
rs1411571280
|
|
|
NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln)
|
rs1131691752
|
|
|
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)
|
rs1256695300
|
|
|
NM_004975.4(KCNB1):c.239A>G (p.Asp80Gly)
|
|
|
|
NM_004975.4(KCNB1):c.2412C>A (p.Thr804=)
|
rs1984177695
|
|
|
NM_004975.4(KCNB1):c.2415C>T (p.Ser805=)
|
rs2146811802
|
|
|
NM_004975.4(KCNB1):c.2416C>T (p.Pro806Ser)
|
rs1471856482
|
|
|
NM_004975.4(KCNB1):c.2417C>T (p.Pro806Leu)
|
rs1249019020
|
|
|
NM_004975.4(KCNB1):c.243C>T (p.Asn81=)
|
rs1295557969
|
|
|
NM_004975.4(KCNB1):c.2447C>A (p.Ser816Tyr)
|
|
|
|
NM_004975.4(KCNB1):c.244G>A (p.Glu82Lys)
|
|
|
|
NM_004975.4(KCNB1):c.2455G>A (p.Ala819Thr)
|
rs373423740
|
|
|
NM_004975.4(KCNB1):c.2455G>T (p.Ala819Ser)
|
|
|
|
NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe)
|
rs1984174923
|
|
|
NM_004975.4(KCNB1):c.2461A>T (p.Thr821Ser)
|
|
|
|
NM_004975.4(KCNB1):c.2468A>G (p.Lys823Arg)
|
rs2146811699
|
|
|
NM_004975.4(KCNB1):c.2472_2473delinsTT (p.Pro825Ser)
|
rs2146811676
|
|
|
NM_004975.4(KCNB1):c.2473C>G (p.Pro825Ala)
|
|
|
|
NM_004975.4(KCNB1):c.2474C>T (p.Pro825Leu)
|
rs1744051695
|
|
|
NM_004975.4(KCNB1):c.2491T>C (p.Cys831Arg)
|
|
|
|
NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro)
|
rs1984172893
|
|
|
NM_004975.4(KCNB1):c.2515C>A (p.Pro839Thr)
|
rs1984172647
|
|
|
NM_004975.4(KCNB1):c.2515C>T (p.Pro839Ser)
|
rs1984172647
|
|
|
NM_004975.4(KCNB1):c.2529G>A (p.Val843=)
|
rs1233867057
|
|
|
NM_004975.4(KCNB1):c.2538G>A (p.Gly846=)
|
|
|
|
NM_004975.4(KCNB1):c.2540G>A (p.Gly847Glu)
|
|
|
|
NM_004975.4(KCNB1):c.2540G>C (p.Gly847Ala)
|
|
|
|
NM_004975.4(KCNB1):c.2546C>A (p.Ala849Asp)
|
|
|
|
NM_004975.4(KCNB1):c.2553A>G (p.Gly851=)
|
|
|
|
NM_004975.4(KCNB1):c.2556C>T (p.Ser852=)
|
rs2146811529
|
|
|
NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter)
|
rs780416138
|
|
|
NM_004975.4(KCNB1):c.2572A>G (p.Ile858Val)
|
|
|
|
NM_004975.4(KCNB1):c.264C>T (p.His88=)
|
|
|
|
NM_004975.4(KCNB1):c.267G>A (p.Pro89=)
|
|
|
|
NM_004975.4(KCNB1):c.270C>A (p.Gly90=)
|
|
|
|
NM_004975.4(KCNB1):c.270C>T (p.Gly90=)
|
|
|
|
NM_004975.4(KCNB1):c.28T>C (p.Ser10Pro)
|
|
|
|
NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter)
|
rs1601162563
|
|
|
NM_004975.4(KCNB1):c.315C>T (p.His105=)
|
rs775196693
|
|
|
NM_004975.4(KCNB1):c.31C>T (p.Arg11Cys)
|
|
|
|
NM_004975.4(KCNB1):c.32G>T (p.Arg11Leu)
|
|
|
|
NM_004975.4(KCNB1):c.336G>A (p.Ala112=)
|
|
|
|
NM_004975.4(KCNB1):c.336G>T (p.Ala112=)
|
|
|
|
NM_004975.4(KCNB1):c.33C>A (p.Arg11=)
|
rs943931190
|
|
|
NM_004975.4(KCNB1):c.357C>G (p.Leu119=)
|
rs773968834
|
|
|
NM_004975.4(KCNB1):c.357C>T (p.Leu119=)
|
rs773968834
|
|
|
NM_004975.4(KCNB1):c.368del (p.Gly123fs)
|
|
|
|
NM_004975.4(KCNB1):c.372C>T (p.Ile124=)
|
rs147498424
|
|
|
NM_004975.4(KCNB1):c.407G>A (p.Arg136His)
|
rs1980515306
|
|
|
NM_004975.4(KCNB1):c.426G>A (p.Glu142=)
|
rs1440280154
|
|
|
NM_004975.4(KCNB1):c.432G>A (p.Met144Ile)
|
rs1179147119
|
|
|
NM_004975.4(KCNB1):c.435C>G (p.Asn145Lys)
|
|
|
|
NM_004975.4(KCNB1):c.441G>T (p.Glu147Asp)
|
|
|
|
NM_004975.4(KCNB1):c.456C>G (p.Ala152=)
|
|
|
|
NM_004975.4(KCNB1):c.45G>C (p.Ser15=)
|
rs1980529873
|
|
|
NM_004975.4(KCNB1):c.461C>T (p.Thr154Ile)
|
rs1980513297
|
|
|
NM_004975.4(KCNB1):c.466C>A (p.Arg156=)
|
|
|
|
NM_004975.4(KCNB1):c.466C>G (p.Arg156Gly)
|
|
|
|
NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp)
|
rs144926751
|
|
|
NM_004975.4(KCNB1):c.472C>A (p.Arg158=)
|
rs1278790809
|
|
|
NM_004975.4(KCNB1):c.474G>C (p.Arg158=)
|
|
|
|
NM_004975.4(KCNB1):c.477A>G (p.Glu159=)
|
rs984041865
|
|
|
NM_004975.4(KCNB1):c.489C>T (p.Phe163=)
|
rs767078520
|
|
|
NM_004975.4(KCNB1):c.495C>A (p.Asn165Lys)
|
rs1239466410
|
|
|
NM_004975.4(KCNB1):c.505G>A (p.Ala169Thr)
|
|
|
|
NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)
|
|
|
|
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro)
|
rs2122803080
|
|
|
NM_004975.4(KCNB1):c.537G>T (p.Leu179=)
|
|
|
|
NM_004975.4(KCNB1):c.553T>C (p.Ser185Pro)
|
|
|
|
NM_004975.4(KCNB1):c.567+12A>T
|
rs2122803009
|
|
|
NM_004975.4(KCNB1):c.567+8T>G
|
|
|
|
NM_004975.4(KCNB1):c.567G>A (p.Lys189=)
|
rs1980508600
|
|
|
NM_004975.4(KCNB1):c.568-10C>T
|
rs1601072100
|
|
|
NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys)
|
rs1555889171
|
|
|
NM_004975.4(KCNB1):c.587T>A (p.Ile196Asn)
|
|
|
|
NM_004975.4(KCNB1):c.5C>A (p.Pro2Gln)
|
|
|
|
NM_004975.4(KCNB1):c.5C>G (p.Pro2Arg)
|
rs1279418021
|
|
|
NM_004975.4(KCNB1):c.603C>T (p.Leu201=)
|
|
|
|
NM_004975.4(KCNB1):c.606C>T (p.Ser202=)
|
rs2146814354
|
|
|
NM_004975.4(KCNB1):c.607A>T (p.Thr203Ser)
|
|
|
|
NM_004975.4(KCNB1):c.615C>T (p.Ala205=)
|
rs1601072012
|
|
|
NM_004975.4(KCNB1):c.61A>T (p.Met21Leu)
|
|
|
|
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys)
|
rs1984276555
|
|
|
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala)
|
rs2146814335
|
|
|
NM_004975.4(KCNB1):c.629C>A (p.Thr210Lys)
|
rs1555889162
|
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
|
NM_004975.4(KCNB1):c.62T>C (p.Met21Thr)
|
|
|
|
NM_004975.4(KCNB1):c.635C>T (p.Pro212Leu)
|
rs2146814318
|
|
|
NM_004975.4(KCNB1):c.648C>T (p.Ser216=)
|
|
|
|
NM_004975.4(KCNB1):c.651C>G (p.Leu217=)
|
|
|
|
NM_004975.4(KCNB1):c.654T>G (p.Asp218Glu)
|
rs2146814301
|
|
|
NM_004975.4(KCNB1):c.661G>A (p.Gly221Ser)
|
rs1984274983
|
|
|
NM_004975.4(KCNB1):c.666G>A (p.Gln222=)
|
|
|
|
NM_004975.4(KCNB1):c.66G>A (p.Glu22=)
|
rs745635029
|
|
|
NM_004975.4(KCNB1):c.676_685del (p.Asn226fs)
|
rs2146814263
|
|
|
NM_004975.4(KCNB1):c.6G>A (p.Pro2=)
|
|
|
|
NM_004975.4(KCNB1):c.702C>G (p.Ala234=)
|
rs753634361
|
|
|
NM_004975.4(KCNB1):c.709A>T (p.Ile237Phe)
|
rs2146814233
|
|
|
NM_004975.4(KCNB1):c.70G>T (p.Val24Leu)
|
|
|
|
NM_004975.4(KCNB1):c.712G>T (p.Ala238Ser)
|
|
|
|
NM_004975.4(KCNB1):c.718T>A (p.Phe240Ile)
|
rs2146814213
|
|
|
NM_004975.4(KCNB1):c.725T>C (p.Met242Thr)
|
|
|
|
NM_004975.4(KCNB1):c.729G>A (p.Glu243=)
|
rs2146814204
|
|
|
NM_004975.4(KCNB1):c.72G>A (p.Val24=)
|
|
|
|
NM_004975.4(KCNB1):c.732C>T (p.Tyr244=)
|
|
|
|
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)
|
rs1601071839
|
|
|
NM_004975.4(KCNB1):c.73C>A (p.Arg25Ser)
|
|
|
|
NM_004975.4(KCNB1):c.740G>A (p.Arg247Lys)
|
rs1984270863
|
|
|
NM_004975.4(KCNB1):c.750C>T (p.Ser250=)
|
rs2146814173
|
|
|
NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu)
|
rs1984270019
|
|
|
NM_004975.4(KCNB1):c.753G>A (p.Ser251=)
|
|
|
|
NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser)
|
rs1984269566
|
|
|
NM_004975.4(KCNB1):c.788A>G (p.Asn263Ser)
|
rs2146814130
|
|
|
NM_004975.4(KCNB1):c.789T>C (p.Asn263=)
|
|
|
|
NM_004975.4(KCNB1):c.78C>T (p.Ser26=)
|
rs1194383095
|
|
|
NM_004975.4(KCNB1):c.790G>A (p.Ala264Thr)
|
|
|
|
NM_004975.4(KCNB1):c.799TTG[1] (p.Leu268del)
|
|
|
|
NM_004975.4(KCNB1):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro)
|
rs1569017375
|
|
|
NM_004975.4(KCNB1):c.813G>A (p.Leu271=)
|
rs763166574
|
|
|
NM_004975.4(KCNB1):c.816A>G (p.Pro272=)
|
|
|
|
NM_004975.4(KCNB1):c.817T>C (p.Tyr273His)
|
|
|
|
NM_004975.4(KCNB1):c.819C>T (p.Tyr273=)
|
rs2146814097
|
|
|
NM_004975.4(KCNB1):c.822T>C (p.Tyr274=)
|
|
|
|
NM_004975.4(KCNB1):c.82G>A (p.Ala28Thr)
|
|
|
|
NM_004975.4(KCNB1):c.831T>C (p.Ile277=)
|
|
|
|
NM_004975.4(KCNB1):c.83C>T (p.Ala28Val)
|
rs769852170
|
|
|
NM_004975.4(KCNB1):c.841G>A (p.Glu281Lys)
|
rs1601071708
|
|
|
NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs)
|
rs1601071660
|
|
|
NM_004975.4(KCNB1):c.864A>G (p.Gln288=)
|
rs2146814058
|
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
|
NM_004975.4(KCNB1):c.878G>A (p.Arg293His)
|
|
|
|
NM_004975.4(KCNB1):c.890A>G (p.Gln297Arg)
|
rs749981323
|
|
|
NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys)
|
rs202170806
|
|
|
NM_004975.4(KCNB1):c.907C>T (p.Arg303Ter)
|
rs1391326211
|
|
|
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)
|
rs1057518621
|
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
|
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val)
|
rs1984261678
|
|
|
NM_004975.4(KCNB1):c.91C>T (p.Arg31Trp)
|
|
|
|
NM_004975.4(KCNB1):c.92G>C (p.Arg31Pro)
|
rs2122803896
|
|
|
NM_004975.4(KCNB1):c.931G>A (p.Ala311Thr)
|
rs2146813980
|
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
|
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
|
|
|
|
NM_004975.4(KCNB1):c.939C>T (p.His313=)
|
rs1304387636
|
|
|
NM_004975.4(KCNB1):c.947G>T (p.Gly316Val)
|
|
|
|
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr)
|
rs1984259606
|
|
|
NM_004975.4(KCNB1):c.959T>C (p.Leu320Pro)
|
rs2146813954
|
|
|
NM_004975.4(KCNB1):c.95G>C (p.Arg32Pro)
|
|
|
|
NM_004975.4(KCNB1):c.961G>A (p.Gly321Ser)
|
rs2146813951
|
|
|
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)
|
rs1276378675
|
|
|
NM_004975.4(KCNB1):c.975GAG[3] (p.Arg326_Ser327insArg)
|
|
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
|
NM_004975.4(KCNB1):c.988G>C (p.Glu330Gln)
|
|
|
|
NM_004975.4(KCNB1):c.990G>A (p.Glu330=)
|
rs1131691489
|
|
|
NM_004975.4(KCNB1):c.996C>T (p.Gly332=)
|
|
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
|
NM_005050.4(ABCD4):c.1028+19C>G
|
|
|
|
NM_005050.4(ABCD4):c.1028+20C>A
|
rs2139899171
|
|
|
NM_005050.4(ABCD4):c.1028+8C>T
|
|
|
|
NM_005050.4(ABCD4):c.1028+9G>T
|
|
|
|
NM_005050.4(ABCD4):c.1029-14C>G
|
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
|
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln)
|
rs147100216
|
|
|
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu)
|
rs147100216
|
|
|
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)
|
rs35073715
|
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
|
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
|
|
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
|
NM_005050.4(ABCD4):c.1119-20C>T
|
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
|
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
|
|
|
|
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
|
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
|
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
|
|
|
|
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
|
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
|
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
|
rs1435760575
|
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
|
NM_005050.4(ABCD4):c.1327+9C>A
|
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
|
NM_005050.4(ABCD4):c.1328-18T>C
|
|
|
|
NM_005050.4(ABCD4):c.1328-19G>A
|
rs376137295
|
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
|
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
|
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
|
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
|
|
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1419+15G>A
|
|
|
|
NM_005050.4(ABCD4):c.1420-11dup
|
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
|
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
|
|
|
|
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
|
|
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
|
NM_005050.4(ABCD4):c.1456+9G>T
|
|
|
|
NM_005050.4(ABCD4):c.1457-18G>A
|
|
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
|
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
|
|
|
|
NM_005050.4(ABCD4):c.1507-11G>C
|
rs375805220
|
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
|
NM_005050.4(ABCD4):c.1507-4A>G
|
|
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
|
NM_005050.4(ABCD4):c.1559+13C>T
|
|
|
|
NM_005050.4(ABCD4):c.1559+16G>A
|
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
|
NM_005050.4(ABCD4):c.158-14C>T
|
|
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
|
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
|
|
|
|
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
|
|
|
|
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
|
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
|
NM_005050.4(ABCD4):c.1637-15G>T
|
rs2079892790
|
|
|
NM_005050.4(ABCD4):c.1637-6C>G
|
|
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
|
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
|
|
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
|
NM_005050.4(ABCD4):c.286-10C>G
|
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
|
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
|
|
|
|
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
|
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
|
NM_005050.4(ABCD4):c.38+16G>A
|
|
|
|
NM_005050.4(ABCD4):c.38+18G>A
|
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
|
NM_005050.4(ABCD4):c.39-19C>T
|
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
|
NM_005050.4(ABCD4):c.426-11A>G
|
rs2140018313
|
|
|
NM_005050.4(ABCD4):c.426-4C>G
|
rs765378243
|
|
|
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
|
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
|
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
|
|
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
|
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
|
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
|
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
|
|
|
|
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
|
|
|
|
NM_005050.4(ABCD4):c.542+20C>G
|
rs2140013486
|
|
|
NM_005050.4(ABCD4):c.543-11C>G
|
|
|
|
NM_005050.4(ABCD4):c.543-17CT[3]
|
|
|
|
NM_005050.4(ABCD4):c.543-17CT[4]
|
|
|
|
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
|
|
|
|
NM_005050.4(ABCD4):c.57A>G (p.Gln19=)
|
rs574817590
|
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
|
NM_005050.4(ABCD4):c.669-6G>A
|
|
|
|
NM_005050.4(ABCD4):c.669-6G>T
|
rs115029507
|
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
|
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
|
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
|
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
|
|
|
|
NM_005050.4(ABCD4):c.814+13G>A
|
|
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
|
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
|
|
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
|
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
|
|
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
|
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
|
|
|
|
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
|
|
|
|
NM_005050.4(ABCD4):c.936+20A>C
|
|
|
|
NM_005050.4(ABCD4):c.936+20A>G
|
|
|
|
NM_005050.4(ABCD4):c.937-17C>T
|
|
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
|
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
|
|
|
|
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
|
|
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
|
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
|
|
|
|
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
|
|
|
|
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
|
|
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
|
NM_005271.5(GLUD1):c.1197+20C>G
|
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
|
NM_005271.5(GLUD1):c.1198-9C>G
|
rs201421730
|
|
|
NM_005271.5(GLUD1):c.1198-9C>T
|
|
|
|
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
|
|
|
|
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
|
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
|
NM_005271.5(GLUD1):c.1279-19G>T
|
|
|
|
NM_005271.5(GLUD1):c.133C>T (p.Leu45=)
|
rs2133875409
|
|
|
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
|
rs1845866673
|
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
|
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)
|
rs2133788934
|
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
|
NM_005271.5(GLUD1):c.1495-14C>A
|
rs2133777461
|
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
|
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
|
rs2133777379
|
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
|
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
|
|
|
|
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
|
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
|
NM_005271.5(GLUD1):c.1647G>A (p.Val549=)
|
rs756484571
|
|
|
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
|
|
|
|
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
|
|
|
|
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
|
|
|
|
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
|
|
|
|
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
|
|
|
|
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
|
|
|
|
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
|
|
|
|
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
|
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
|
|
|
|
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
|
rs1294286511
|
|
|
NM_005271.5(GLUD1):c.406C>A (p.Arg136=)
|
rs1405119017
|
|
|
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)
|
rs2133873984
|
|
|
NM_005271.5(GLUD1):c.446-9C>T
|
rs1846404467
|
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
|
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
|
rs1846403678
|
|
|
NM_005271.5(GLUD1):c.526+10C>T
|
|
|
|
NM_005271.5(GLUD1):c.534G>T (p.Pro178=)
|
rs764675203
|
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
|
NM_005271.5(GLUD1):c.582+18A>G
|
|
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
|
NM_005271.5(GLUD1):c.646+16_646+17del
|
rs201141455
|
|
|
NM_005271.5(GLUD1):c.647-14C>T
|
|
|
|
NM_005271.5(GLUD1):c.647-5C>G
|
rs201611802
|
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
|
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
|
rs2133811373
|
|
|
NM_005271.5(GLUD1):c.742-8del
|
|
|
|
NM_005271.5(GLUD1):c.756C>T (p.His252=)
|
|
|
|
NM_005271.5(GLUD1):c.771T>G (p.Gly257=)
|
rs144831842
|
|
|
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
|
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
|
NM_005327.7(HADH):c.117C>G (p.Gly39=)
|
|
|
|
NM_005327.7(HADH):c.120C>T (p.Ala40=)
|
|
|
|
NM_005327.7(HADH):c.123C>T (p.Gly41=)
|
|
|
|
NM_005327.7(HADH):c.126T>C (p.Ile42=)
|
|
|
|
NM_005327.7(HADH):c.132+15C>A
|
|
|
|
NM_005327.7(HADH):c.132+16T>A
|
|
|
|
NM_005327.7(HADH):c.132+19A>G
|
|
|
|
NM_005327.7(HADH):c.133-19T>C
|
|
|
|
NM_005327.7(HADH):c.133-20T>G
|
|
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
|
NM_005327.7(HADH):c.141A>G (p.Ala47=)
|
|
|
|
NM_005327.7(HADH):c.144A>T (p.Ala48=)
|
rs79881095
|
|
|
NM_005327.7(HADH):c.156A>G (p.Thr52=)
|
|
|
|
NM_005327.7(HADH):c.162G>A (p.Val54=)
|
|
|
|
NM_005327.7(HADH):c.163T>C (p.Leu55=)
|
|
|
|
NM_005327.7(HADH):c.180G>A (p.Glu60=)
|
|
|
|
NM_005327.7(HADH):c.18G>A (p.Arg6=)
|
|
|
|
NM_005327.7(HADH):c.203dup (p.Ile70fs)
|
|
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
|
NM_005327.7(HADH):c.237G>A (p.Lys79=)
|
rs150930917
|
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
|
NM_005327.7(HADH):c.246T>C (p.Phe82=)
|
|
|
|
NM_005327.7(HADH):c.249A>G (p.Ala83=)
|
|
|
|
NM_005327.7(HADH):c.261+10T>C
|
|
|
|
NM_005327.7(HADH):c.261+12T>C
|
|
|
|
NM_005327.7(HADH):c.261+15T>A
|
|
|
|
NM_005327.7(HADH):c.261+16C>A
|
|
|
|
NM_005327.7(HADH):c.261+16C>G
|
|
|
|
NM_005327.7(HADH):c.261+16C>T
|
rs71601073
|
|
|
NM_005327.7(HADH):c.261+18A>T
|
|
|
|
NM_005327.7(HADH):c.261+19T>A
|
|
|
|
NM_005327.7(HADH):c.261+20G>A
|
|
|
|
NM_005327.7(HADH):c.261+2T>A
|
|
|
|
NM_005327.7(HADH):c.261+7T>A
|
|
|
|
NM_005327.7(HADH):c.261+8C>G
|
|
|
|
NM_005327.7(HADH):c.261+8C>T
|
|
|
|
NM_005327.7(HADH):c.262-19C>T
|
rs2126229206
|
|
|
NM_005327.7(HADH):c.262-2A>G
|
|
|
|
NM_005327.7(HADH):c.262-5A>C
|
|
|
|
NM_005327.7(HADH):c.262-5A>G
|
|
|
|
NM_005327.7(HADH):c.262-6C>T
|
|
|
|
NM_005327.7(HADH):c.262-8T>C
|
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
|
NM_005327.7(HADH):c.267C>T (p.Gly89=)
|
|
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
|
NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
|
|
|
|
NM_005327.7(HADH):c.306C>G (p.Thr102=)
|
|
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
|
NM_005327.7(HADH):c.312G>A (p.Thr104=)
|
|
|
|
NM_005327.7(HADH):c.315T>C (p.Asp105=)
|
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_005327.7(HADH):c.327T>C (p.Val109=)
|
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
|
NM_005327.7(HADH):c.336C>T (p.Ser112=)
|
|
|
|
NM_005327.7(HADH):c.351G>A (p.Val117=)
|
|
|
|
NM_005327.7(HADH):c.360C>T (p.Ile120=)
|
|
|
|
NM_005327.7(HADH):c.366G>A (p.Glu122=)
|
|
|
|
NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
|
|
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
|
NM_005327.7(HADH):c.381A>G (p.Lys127=)
|
|
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
|
NM_005327.7(HADH):c.390C>T (p.Leu130=)
|
|
|
|
NM_005327.7(HADH):c.39C>T (p.Ser13=)
|
|
|
|
NM_005327.7(HADH):c.419+12C>G
|
|
|
|
NM_005327.7(HADH):c.419+14G>A
|
|
|
|
NM_005327.7(HADH):c.419+16A>T
|
|
|
|
NM_005327.7(HADH):c.419+18A>G
|
|
|
|
NM_005327.7(HADH):c.419+19A>G
|
|
|
|
NM_005327.7(HADH):c.420-10C>T
|
|
|
|
NM_005327.7(HADH):c.420-17A>G
|
|
|
|
NM_005327.7(HADH):c.420-19C>T
|
|
|
|
NM_005327.7(HADH):c.420-4A>G
|
|
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
|
NM_005327.7(HADH):c.426A>G (p.Thr142=)
|
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
|
NM_005327.7(HADH):c.450C>T (p.Ser150=)
|
|
|
|
NM_005327.7(HADH):c.489A>G (p.Gln163=)
|
|
|
|
NM_005327.7(HADH):c.48C>T (p.Ser16=)
|
|
|
|
NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
|
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
|
NM_005327.7(HADH):c.498C>T (p.Phe166=)
|
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
|
NM_005327.7(HADH):c.516del (p.Phe172fs)
|
|
|
|
NM_005327.7(HADH):c.525G>A (p.Val175=)
|
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
|
NM_005327.7(HADH):c.540T>C (p.Leu180=)
|
|
|
|
NM_005327.7(HADH):c.546+13C>T
|
|
|
|
NM_005327.7(HADH):c.546+15G>T
|
|
|
|
NM_005327.7(HADH):c.546+18dup
|
rs2126232168
|
|
|
NM_005327.7(HADH):c.546+9G>A
|
|
|
|
NM_005327.7(HADH):c.547-10G>T
|
|
|
|
NM_005327.7(HADH):c.547-19C>A
|
|
|
|
NM_005327.7(HADH):c.54C>A (p.Ala18=)
|
|
|
|
NM_005327.7(HADH):c.567C>T (p.Thr189=)
|
|
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
|
NM_005327.7(HADH):c.594A>G (p.Val198=)
|
|
|
|
NM_005327.7(HADH):c.600T>C (p.Phe200=)
|
|
|
|
NM_005327.7(HADH):c.612A>G (p.Leu204=)
|
|
|
|
NM_005327.7(HADH):c.615A>G (p.Gly205=)
|
|
|
|
NM_005327.7(HADH):c.636+16G>A
|
|
|
|
NM_005327.7(HADH):c.636+16G>T
|
|
|
|
NM_005327.7(HADH):c.636+18T>C
|
|
|
|
NM_005327.7(HADH):c.636+20G>A
|
|
|
|
NM_005327.7(HADH):c.636+2T>C
|
|
|
|
NM_005327.7(HADH):c.636+7G>C
|
|
|
|
NM_005327.7(HADH):c.637-10C>T
|
|
|
|
NM_005327.7(HADH):c.637-18T>C
|
|
|
|
NM_005327.7(HADH):c.637-20T>C
|
|
|
|
NM_005327.7(HADH):c.637-7A>C
|
|
|
|
NM_005327.7(HADH):c.639C>T (p.Asp213=)
|
|
|
|
NM_005327.7(HADH):c.642T>C (p.Thr214=)
|
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
|
NM_005327.7(HADH):c.64del (p.Ala22fs)
|
|
|
|
NM_005327.7(HADH):c.651T>C (p.Phe217=)
|
|
|
|
NM_005327.7(HADH):c.663C>T (p.Arg221=)
|
|
|
|
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
|
|
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
|
NM_005327.7(HADH):c.709+17G>A
|
|
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
|
NM_005327.7(HADH):c.709+8T>A
|
rs2126237037
|
|
|
NM_005327.7(HADH):c.710-11T>A
|
|
|
|
NM_005327.7(HADH):c.710-11T>G
|
|
|
|
NM_005327.7(HADH):c.710-13G>A
|
|
|
|
NM_005327.7(HADH):c.710-14_710-11dup
|
|
|
|
NM_005327.7(HADH):c.710-15C>T
|
|
|
|
NM_005327.7(HADH):c.710-18C>T
|
|
|
|
NM_005327.7(HADH):c.710-19G>A
|
|
|
|
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
|
rs746680125
|
|
|
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
|
rs1736337186
|
|
|
NM_005327.7(HADH):c.740C>T (p.Ala247Val)
|
rs1736337431
|
|
|
NM_005327.7(HADH):c.756C>G (p.Ala252=)
|
|
|
|
NM_005327.7(HADH):c.756C>T (p.Ala252=)
|
|
|
|
NM_005327.7(HADH):c.765C>G (p.Pro255=)
|
|
|
|
NM_005327.7(HADH):c.771C>T (p.Gly257=)
|
|
|
|
NM_005327.7(HADH):c.774A>G (p.Pro258=)
|
|
|
|
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
|
NM_005327.7(HADH):c.810G>A (p.Thr270=)
|
|
|
|
NM_005327.7(HADH):c.819C>T (p.Ile273=)
|
|
|
|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
|
NM_005327.7(HADH):c.826+13del
|
|
|
|
NM_005327.7(HADH):c.826+8T>C
|
|
|
|
NM_005327.7(HADH):c.827-18C>T
|
|
|
|
NM_005327.7(HADH):c.827-20C>G
|
|
|
|
NM_005327.7(HADH):c.827-20C>T
|
|
|
|
NM_005327.7(HADH):c.827-4A>C
|
rs1381056065
|
|
|
NM_005327.7(HADH):c.828G>A (p.Gly276=)
|
|
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
|
NM_005327.7(HADH):c.846A>G (p.Ala282=)
|
|
|
|
NM_005327.7(HADH):c.873A>G (p.Pro291=)
|
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
|
NM_005327.7(HADH):c.87C>T (p.His29=)
|
|
|
|
NM_005327.7(HADH):c.897G>A (p.Glu299=)
|
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
|
NM_005327.7(HADH):c.906C>T (p.Phe302=)
|
|
|
|
NM_005327.7(HADH):c.909C>T (p.Gly303=)
|
|
|
|
NM_005327.7(HADH):c.921A>T (p.Gly307=)
|
|
|
|
NM_005327.7(HADH):c.93G>A (p.Thr31=)
|
|
|
|
NM_005327.7(HADH):c.99C>T (p.Ile33=)
|
rs74428123
|
|
|
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
|
NM_005334.3(HCFC1):c.1084+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
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|
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NM_005334.3(HCFC1):c.1085-17A>G
|
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|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
|
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
|
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
|
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
|
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
|
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
|
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
|
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
|
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
|
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
|
|
|
|
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
|
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
|
|
|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
|
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
|
|
|
NM_005334.3(HCFC1):c.1444+14C>T
|
|
|
|
NM_005334.3(HCFC1):c.1444+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1445-11T>C
|
|
|
|
NM_005334.3(HCFC1):c.1445-17G>T
|
|
|
|
NM_005334.3(HCFC1):c.1445-20C>G
|
|
|
|
NM_005334.3(HCFC1):c.1445-7T>C
|
|
|
|
NM_005334.3(HCFC1):c.1445-8C>G
|
|
|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
|
|
|
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
|
|
|
|
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
|
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
|
|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
|
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
|
|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
|
|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
|
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
|
|
|
|
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
|
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
|
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
|
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
|
|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
|
|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
|
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
|
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
|
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
|
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
|
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
|
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2028+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
|
|
|
|
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
|
|
|
|
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
|
|
|
|
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
|
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
|
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
|
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
|
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
|
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
|
NM_005334.3(HCFC1):c.2497-9G>T
|
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
|
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
|
|
|
|
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
|
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
|
|
|
|
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
|
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
|
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)
|
rs782757775
|
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
|
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
|
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
|
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
|
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
|
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
|
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
|
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
|
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
|
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
|
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
|
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
|
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
|
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
|
|
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
|
NM_005334.3(HCFC1):c.2857-14G>C
|
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
|
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
|
|
|
|
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
|
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
|
|
|
|
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
|
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
|
|
|
|
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=)
|
rs782300483
|
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
|
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
|
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
|
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
|
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
|
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
|
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
|
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
|
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
|
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
|
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
|
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
|
NM_005334.3(HCFC1):c.342+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
|
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
|
|
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
|
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
|
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
|
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
|
|
|
|
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
|
|
|
|
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
|
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
|
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
|
|
|
|
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
|
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
|
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
|
|
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
|
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
|
|
|
|
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
|
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
|
|
|
|
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
|
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
|
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
|
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
|
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
|
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
|
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
|
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
|
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
|
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
|
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
|
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
|
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
|
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
|
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
|
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
|
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
|
|
|
|
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
|
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
|
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)
|
rs782136932
|
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
|
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
|
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
|
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
|
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
|
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
|
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
|
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
|
|
|
|
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
|
|
|
|
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
|
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
|
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
|
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
|
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
|
|
|
|
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
|
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
|
|
|
|
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
|
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
|
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
|
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
|
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
|
|
|
|
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
|
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
|
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
|
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
|
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
|
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
|
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
|
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
|
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
|
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
|
|
|
|
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
|
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
|
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
|
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
|
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
|
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
|
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
|
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
|
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
|
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
|
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
|
|
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
|
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
|
|
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
|
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
|
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
|
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
|
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
|
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
|
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
|
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
|
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
|
|
|
|
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
|
|
|
|
NM_005334.3(HCFC1):c.5260+16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
|
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
|
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del)
|
rs782769309
|
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.5517+20G>C
|
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
|
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
|
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
|
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
|
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
|
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
|
NM_005334.3(HCFC1):c.5703+18del
|
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
|
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
|
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
|
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
|
|
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
|
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
|
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
|
|
|
|
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
|
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
|
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
|
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+14G>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-12C>G
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-12C>T
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.6068+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.6069-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.6069-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
|
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
|
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
|
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
|
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
|
NM_005334.3(HCFC1):c.713-12G>A
|
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
|
NM_005334.3(HCFC1):c.713-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
|
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
|
|
|
|
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
|
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
|
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
|
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
|
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
|
|
|
|
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
|
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
|
NM_005518.4(HMGCS2):c.1015G>A (p.Gly339Arg)
|
|
|
|
NM_005518.4(HMGCS2):c.1015G>T (p.Gly339Trp)
|
rs775277893
|
|
|
NM_005518.4(HMGCS2):c.1017-12G>A
|
|
|
|
NM_005518.4(HMGCS2):c.1017G>C (p.Gly339=)
|
rs777182302
|
|
|
NM_005518.4(HMGCS2):c.1020G>A (p.Gly340=)
|
|
|
|
NM_005518.4(HMGCS2):c.1029G>A (p.Leu343=)
|
|
|
|
NM_005518.4(HMGCS2):c.1030G>T (p.Glu344Ter)
|
rs2101254797
|
|
|
NM_005518.4(HMGCS2):c.103A>G (p.Arg35Gly)
|
rs1653321576
|
|
|
NM_005518.4(HMGCS2):c.1046A>G (p.Asn349Ser)
|
rs1025175254
|
|
|
NM_005518.4(HMGCS2):c.104G>T (p.Arg35Met)
|
rs751101083
|
|
|
NM_005518.4(HMGCS2):c.105-8C>T
|
|
|
|
NM_005518.4(HMGCS2):c.1078T>G (p.Ser360Ala)
|
rs1286992834
|
|
|
NM_005518.4(HMGCS2):c.1080T>G (p.Ser360=)
|
|
|
|
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile)
|
rs1652807016
|
|
|
NM_005518.4(HMGCS2):c.1093G>A (p.Asp365Asn)
|
|
|
|
NM_005518.4(HMGCS2):c.1095C>G (p.Asp365Glu)
|
rs587690380
|
|
|
NM_005518.4(HMGCS2):c.1112C>G (p.Ser371Cys)
|
|
|
|
NM_005518.4(HMGCS2):c.1118A>C (p.Tyr373Ser)
|
rs1652805414
|
|
|
NM_005518.4(HMGCS2):c.1119C>T (p.Tyr373=)
|
|
|
|
NM_005518.4(HMGCS2):c.1142T>G (p.Met381Arg)
|
rs771289268
|
|
|
NM_005518.4(HMGCS2):c.1156C>A (p.Leu386Met)
|
|
|
|
NM_005518.4(HMGCS2):c.1188-17G>T
|
|
|
|
NM_005518.4(HMGCS2):c.1229dup (p.Ser411fs)
|
|
|
|
NM_005518.4(HMGCS2):c.1254A>G (p.Ala418=)
|
rs2101249712
|
|
|
NM_005518.4(HMGCS2):c.1256G>A (p.Ser419Asn)
|
|
|
|
NM_005518.4(HMGCS2):c.1262T>G (p.Phe421Cys)
|
rs1652723339
|
|
|
NM_005518.4(HMGCS2):c.126C>G (p.Val42=)
|
|
|
|
NM_005518.4(HMGCS2):c.126C>T (p.Val42=)
|
|
|
|
NM_005518.4(HMGCS2):c.1295-12T>C
|
|
|
|
NM_005518.4(HMGCS2):c.1316T>C (p.Val439Ala)
|
|
|
|
NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=)
|
rs754122611
|
|
|
NM_005518.4(HMGCS2):c.1350C>T (p.Ala450=)
|
|
|
|
NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter)
|
|
|
|
NM_005518.4(HMGCS2):c.1355G>A (p.Arg452Gln)
|
rs770800317
|
|
|
NM_005518.4(HMGCS2):c.135C>T (p.Ala45=)
|
|
|
|
NM_005518.4(HMGCS2):c.1368T>C (p.Ser456=)
|
|
|
|
NM_005518.4(HMGCS2):c.1372G>A (p.Glu458Lys)
|
|
|
|
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)
|
rs779321975
|
|
|
NM_005518.4(HMGCS2):c.1421-9A>C
|
|
|
|
NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=)
|
rs751604096
|
|
|
NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)
|
|
|
|
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)
|
rs372079931
|
|
|
NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)
|
|
|
|
NM_005518.4(HMGCS2):c.1521C>T (p.Pro507=)
|
|
|
|
NM_005518.4(HMGCS2):c.158A>G (p.Asp53Gly)
|
|
|
|
NM_005518.4(HMGCS2):c.159C>T (p.Asp53=)
|
|
|
|
NM_005518.4(HMGCS2):c.182T>G (p.Val61Gly)
|
|
|
|
NM_005518.4(HMGCS2):c.195C>T (p.Ala65=)
|
rs1571042762
|
|
|
NM_005518.4(HMGCS2):c.205G>A (p.Asp69Asn)
|
|
|
|
NM_005518.4(HMGCS2):c.245G>A (p.Gly82Glu)
|
rs1653149765
|
|
|
NM_005518.4(HMGCS2):c.279G>A (p.Met93Ile)
|
rs1557994090
|
|
|
NM_005518.4(HMGCS2):c.28C>A (p.Arg10Ser)
|
|
|
|
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
|
|
|
|
NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)
|
|
|
|
NM_005518.4(HMGCS2):c.369T>C (p.Ser123=)
|
rs780926888
|
|
|
NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)
|
|
|
|
NM_005518.4(HMGCS2):c.411G>A (p.Lys137=)
|
|
|
|
NM_005518.4(HMGCS2):c.412T>C (p.Ser138Pro)
|
rs764209022
|
|
|
NM_005518.4(HMGCS2):c.428C>G (p.Thr143Arg)
|
rs760689678
|
|
|
NM_005518.4(HMGCS2):c.51G>A (p.Ala17=)
|
|
|
|
NM_005518.4(HMGCS2):c.533A>G (p.Asn178Ser)
|
rs1386957244
|
|
|
NM_005518.4(HMGCS2):c.540G>T (p.Met180Ile)
|
rs1161245291
|
|
|
NM_005518.4(HMGCS2):c.559+13A>T
|
|
|
|
NM_005518.4(HMGCS2):c.559+9G>A
|
|
|
|
NM_005518.4(HMGCS2):c.559+9G>T
|
|
|
|
NM_005518.4(HMGCS2):c.560-13T>C
|
|
|
|
NM_005518.4(HMGCS2):c.560-3C>T
|
rs1652986854
|
|
|
NM_005518.4(HMGCS2):c.56A>G (p.Gln19Arg)
|
rs2101283600
|
|
|
NM_005518.4(HMGCS2):c.589A>G (p.Ile197Val)
|
rs2101263939
|
|
|
NM_005518.4(HMGCS2):c.605G>A (p.Ser202Asn)
|
|
|
|
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)
|
rs886045207
|
|
|
NM_005518.4(HMGCS2):c.633C>A (p.Ala211=)
|
|
|
|
NM_005518.4(HMGCS2):c.675C>T (p.Ala225=)
|
rs2101263677
|
|
|
NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter)
|
rs763531478
|
|
|
NM_005518.4(HMGCS2):c.685+13C>G
|
|
|
|
NM_005518.4(HMGCS2):c.685+19C>T
|
rs2101263634
|
|
|
NM_005518.4(HMGCS2):c.686-17T>C
|
|
|
|
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr)
|
rs773806829
|
|
|
NM_005518.4(HMGCS2):c.705G>A (p.Met235Ile)
|
rs2101262597
|
|
|
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter)
|
rs145838142
|
|
|
NM_005518.4(HMGCS2):c.73C>T (p.Pro25Ser)
|
rs144744634
|
|
|
NM_005518.4(HMGCS2):c.754A>G (p.Ile252Val)
|
|
|
|
NM_005518.4(HMGCS2):c.786C>T (p.Tyr262=)
|
|
|
|
NM_005518.4(HMGCS2):c.797T>C (p.Leu266Ser)
|
|
|
|
NM_005518.4(HMGCS2):c.79C>T (p.Arg27Cys)
|
|
|
|
NM_005518.4(HMGCS2):c.814T>C (p.Ser272Pro)
|
rs1571037413
|
|
|
NM_005518.4(HMGCS2):c.822T>C (p.Arg274=)
|
rs1571037388
|
|
|
NM_005518.4(HMGCS2):c.850+17G>A
|
|
|
|
NM_005518.4(HMGCS2):c.850+2T>C
|
rs1571037298
|
|
|
NM_005518.4(HMGCS2):c.851C>G (p.Ala284Gly)
|
|
|
|
NM_005518.4(HMGCS2):c.862C>A (p.Arg288=)
|
rs142637231
|
|
|
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter)
|
rs142637231
|
|
|
NM_005518.4(HMGCS2):c.866C>A (p.Pro289His)
|
rs146296049
|
|
|
NM_005518.4(HMGCS2):c.874C>A (p.Leu292Ile)
|
rs769844821
|
|
|
NM_005518.4(HMGCS2):c.887A>C (p.Gln296Pro)
|
|
|
|
NM_005518.4(HMGCS2):c.941G>A (p.Arg314His)
|
|
|
|
NM_005518.4(HMGCS2):c.973A>G (p.Ser325Gly)
|
|
|
|
NM_005518.4(HMGCS2):c.990C>T (p.Ser330=)
|
rs2101258162
|
|
|
NM_005518.4(HMGCS2):c.991T>C (p.Leu331=)
|
rs776664576
|
|
|
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)
|
rs782433037
|
|
|
NM_005629.4(SLC6A8):c.1009T>C (p.Cys337Arg)
|
rs2091468099
|
|
|
NM_005629.4(SLC6A8):c.1016+10G>T
|
rs371905179
|
|
|
NM_005629.4(SLC6A8):c.1016+12C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1016+19C>A
|
|
|
|
NM_005629.4(SLC6A8):c.1016+20C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
|
NM_005629.4(SLC6A8):c.1016+2_1016+5del
|
rs2148363006
|
|
|
NM_005629.4(SLC6A8):c.1016+8C>T
|
rs2148363011
|
|
|
NM_005629.4(SLC6A8):c.1016+9C>A
|
rs190690083
|
|
|
NM_005629.4(SLC6A8):c.1017-11C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1017-15C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1017-16C>G
|
rs1353769217
|
|
|
NM_005629.4(SLC6A8):c.1017-19T>C
|
|
|
|
NM_005629.4(SLC6A8):c.1017-20C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1017-4T>G
|
|
|
|
NM_005629.4(SLC6A8):c.1017-4_1023dup
|
rs2091469083
|
|
|
NM_005629.4(SLC6A8):c.1017-4del
|
|
|
|
NM_005629.4(SLC6A8):c.1017-5C>A
|
|
|
|
NM_005629.4(SLC6A8):c.1017-7C>T
|
rs2148363139
|
|
|
NM_005629.4(SLC6A8):c.1023C>T (p.Ala341=)
|
rs2148363164
|
|
|
NM_005629.4(SLC6A8):c.1024ATC[1] (p.Ile343del)
|
rs2091469148
|
|
|
NM_005629.4(SLC6A8):c.1027A>G (p.Ile343Val)
|
rs2148363171
|
|
|
NM_005629.4(SLC6A8):c.1036C>G (p.Leu346Val)
|
|
|
|
NM_005629.4(SLC6A8):c.1037_1038del (p.Leu346fs)
|
rs2148363178
|
|
|
NM_005629.4(SLC6A8):c.1040_1044delinsAAGA (p.Ile347fs)
|
rs2091469248
|
|
|
NM_005629.4(SLC6A8):c.1048G>A (p.Gly350Arg)
|
rs2148363200
|
|
|
NM_005629.4(SLC6A8):c.1050G>C (p.Gly350=)
|
rs1403430635
|
|
|
NM_005629.4(SLC6A8):c.1055G>A (p.Ser352Asn)
|
rs2148363211
|
|
|
NM_005629.4(SLC6A8):c.1059C>T (p.Phe353=)
|
rs2148363218
|
|
|
NM_005629.4(SLC6A8):c.1068C>G (p.Gly356=)
|
|
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
|
NM_005629.4(SLC6A8):c.1072_1095del (p.Val358_Phe365del)
|
rs886041471
|
|
|
NM_005629.4(SLC6A8):c.1077C>G (p.Val359=)
|
|
|
|
NM_005629.4(SLC6A8):c.1077C>T (p.Val359=)
|
rs782477560
|
|
|
NM_005629.4(SLC6A8):c.107G>T (p.Gly36Val)
|
rs1557043804
|
|
|
NM_005629.4(SLC6A8):c.1083C>A (p.Ser361=)
|
rs2148363234
|
|
|
NM_005629.4(SLC6A8):c.1083C>T (p.Ser361=)
|
|
|
|
NM_005629.4(SLC6A8):c.1086C>T (p.Ile362=)
|
|
|
|
NM_005629.4(SLC6A8):c.108C>A (p.Gly36=)
|
|
|
|
NM_005629.4(SLC6A8):c.1092C>G (p.Gly364=)
|
|
|
|
NM_005629.4(SLC6A8):c.109C>T (p.Pro37Ser)
|
|
|
|
NM_005629.4(SLC6A8):c.1104dup (p.Glu369fs)
|
rs1569539381
|
|
|
NM_005629.4(SLC6A8):c.1108C>T (p.Gln370Ter)
|
rs2148363243
|
|
|
NM_005629.4(SLC6A8):c.111C>G (p.Pro37=)
|
|
|
|
NM_005629.4(SLC6A8):c.1122C>T (p.Ile374=)
|
rs2148363253
|
|
|
NM_005629.4(SLC6A8):c.1124C>G (p.Ser375Cys)
|
rs2148363255
|
|
|
NM_005629.4(SLC6A8):c.1125C>T (p.Ser375=)
|
rs2148363257
|
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
|
|
|
NM_005629.4(SLC6A8):c.1141+12C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1141+15_1141+16dup
|
rs2148363278
|
|
|
NM_005629.4(SLC6A8):c.1141+19C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1142-12C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1142-15_1142-14dup
|
|
|
|
NM_005629.4(SLC6A8):c.1142-5C>A
|
rs1557045247
|
|
|
NM_005629.4(SLC6A8):c.1142-5C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1142-6C>A
|
|
|
|
NM_005629.4(SLC6A8):c.1142-8T>A
|
rs2148363608
|
|
|
NM_005629.4(SLC6A8):c.1143G>C (p.Gly381=)
|
rs782514670
|
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
|
NM_005629.4(SLC6A8):c.1146G>C (p.Pro382=)
|
|
|
|
NM_005629.4(SLC6A8):c.1167C>T (p.Tyr389=)
|
rs2148363659
|
|
|
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu)
|
rs2148363661
|
|
|
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp)
|
rs781997638
|
|
|
NM_005629.4(SLC6A8):c.1170G>C (p.Pro390=)
|
rs782416756
|
|
|
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
|
rs1557045267
|
|
|
NM_005629.4(SLC6A8):c.1173G>A (p.Arg391=)
|
|
|
|
NM_005629.4(SLC6A8):c.1182G>A (p.Thr394=)
|
|
|
|
NM_005629.4(SLC6A8):c.1182G>T (p.Thr394=)
|
rs782266040
|
|
|
NM_005629.4(SLC6A8):c.1183C>T (p.Leu395=)
|
rs1557045279
|
|
|
NM_005629.4(SLC6A8):c.1184T>C (p.Leu395Pro)
|
rs1557045281
|
|
|
NM_005629.4(SLC6A8):c.118C>A (p.Leu40Met)
|
|
|
|
NM_005629.4(SLC6A8):c.1194G>A (p.Val398=)
|
|
|
|
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.1210del (p.Ala404fs)
|
rs2148363723
|
|
|
NM_005629.4(SLC6A8):c.1214T>C (p.Leu405Pro)
|
rs2091472678
|
|
|
NM_005629.4(SLC6A8):c.1215G>A (p.Leu405=)
|
|
|
|
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)
|
rs80338740
|
|
|
NM_005629.4(SLC6A8):c.1218C>T (p.Phe406=)
|
rs1557045310
|
|
|
NM_005629.4(SLC6A8):c.1228C>T (p.Leu410=)
|
|
|
|
NM_005629.4(SLC6A8):c.1230G>A (p.Leu410=)
|
rs1295612892
|
|
|
NM_005629.4(SLC6A8):c.123G>A (p.Gly41=)
|
|
|
|
NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=)
|
rs782030501
|
|
|
NM_005629.4(SLC6A8):c.1246G>A (p.Asp416Asn)
|
|
|
|
NM_005629.4(SLC6A8):c.1247A>G (p.Asp416Gly)
|
rs2148363766
|
|
|
NM_005629.4(SLC6A8):c.1248C>T (p.Asp416=)
|
|
|
|
NM_005629.4(SLC6A8):c.1251C>A (p.Ser417Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.1254+11G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1254+12G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1254+16T>C
|
|
|
|
NM_005629.4(SLC6A8):c.1254+17G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1254+18G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1254+19G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1254+7A>G
|
rs2148363788
|
|
|
NM_005629.4(SLC6A8):c.1255-10C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1255-10C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1255-14dup
|
|
|
|
NM_005629.4(SLC6A8):c.1255-7G>C
|
rs2148363924
|
|
|
NM_005629.4(SLC6A8):c.1258G>A (p.Val420Ile)
|
rs1569539415
|
|
|
NM_005629.4(SLC6A8):c.1262G>A (p.Gly421Asp)
|
rs1085308011
|
|
|
NM_005629.4(SLC6A8):c.1263T>C (p.Gly421=)
|
|
|
|
NM_005629.4(SLC6A8):c.1264G>A (p.Val422Met)
|
|
|
|
NM_005629.4(SLC6A8):c.1269G>A (p.Glu423=)
|
|
|
|
NM_005629.4(SLC6A8):c.126A>T (p.Thr42=)
|
rs1557043825
|
|
|
NM_005629.4(SLC6A8):c.1278C>T (p.Ile426=)
|
rs2148363948
|
|
|
NM_005629.4(SLC6A8):c.1282G>A (p.Gly428Ser)
|
rs2060322395
|
|
|
NM_005629.4(SLC6A8):c.1283del (p.Gly428fs)
|
rs2148363957
|
|
|
NM_005629.4(SLC6A8):c.1285C>T (p.Leu429Phe)
|
|
|
|
NM_005629.4(SLC6A8):c.1289_1290del (p.Leu430fs)
|
|
|
|
NM_005629.4(SLC6A8):c.1290_1309del (p.Asp431fs)
|
rs886041818
|
|
|
NM_005629.4(SLC6A8):c.1294C>G (p.Leu432Val)
|
|
|
|
NM_005629.4(SLC6A8):c.1299C>T (p.Leu433=)
|
|
|
|
NM_005629.4(SLC6A8):c.129C>A (p.Pro43=)
|
rs782267694
|
|
|
NM_005629.4(SLC6A8):c.12G>A (p.Lys4=)
|
rs1486125548
|
|
|
NM_005629.4(SLC6A8):c.12G>C (p.Lys4Asn)
|
|
|
|
NM_005629.4(SLC6A8):c.1301C>T (p.Pro434Leu)
|
rs2091474324
|
|
|
NM_005629.4(SLC6A8):c.1305C>A (p.Ala435=)
|
|
|
|
NM_005629.4(SLC6A8):c.1305C>T (p.Ala435=)
|
|
|
|
NM_005629.4(SLC6A8):c.130G>A (p.Gly44Ser)
|
rs2091437228
|
|
|
NM_005629.4(SLC6A8):c.1310A>G (p.Tyr437Cys)
|
rs1557045400
|
|
|
NM_005629.4(SLC6A8):c.1323C>G (p.Phe441Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.132C>A (p.Gly44=)
|
rs2148358531
|
|
|
NM_005629.4(SLC6A8):c.1330G>A (p.Glu444Lys)
|
|
|
|
NM_005629.4(SLC6A8):c.1333A>T (p.Ile445Phe)
|
rs2091474639
|
|
|
NM_005629.4(SLC6A8):c.1335C>A (p.Ile445=)
|
rs2148364036
|
|
|
NM_005629.4(SLC6A8):c.1344C>T (p.Ala448=)
|
rs781971678
|
|
|
NM_005629.4(SLC6A8):c.1350_1361del (p.Cys451_Cys454del)
|
rs2148364040
|
|
|
NM_005629.4(SLC6A8):c.1356C>T (p.Ala452=)
|
rs2148364050
|
|
|
NM_005629.4(SLC6A8):c.1359C>G (p.Leu453=)
|
rs2148364052
|
|
|
NM_005629.4(SLC6A8):c.1366G>A (p.Val456Ile)
|
|
|
|
NM_005629.4(SLC6A8):c.137G>T (p.Arg46Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.1392+10G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1392+10G>T
|
|
|
|
NM_005629.4(SLC6A8):c.1392+12G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1392+13G>T
|
|
|
|
NM_005629.4(SLC6A8):c.1392+14G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1392+14_1392+38del
|
|
|
|
NM_005629.4(SLC6A8):c.1392+15G>A
|
rs1238949410
|
|
|
NM_005629.4(SLC6A8):c.1392+15G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1392+17G>A
|
rs782120123
|
|
|
NM_005629.4(SLC6A8):c.1392+17G>T
|
|
|
|
NM_005629.4(SLC6A8):c.1392+17dup
|
rs781964988
|
|
|
NM_005629.4(SLC6A8):c.1392+18T>A
|
|
|
|
NM_005629.4(SLC6A8):c.1392+19C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1392+7G>C
|
rs1557045427
|
|
|
NM_005629.4(SLC6A8):c.1392T>C (p.Asp464=)
|
|
|
|
NM_005629.4(SLC6A8):c.1392_1392+2dup
|
|
|
|
NM_005629.4(SLC6A8):c.1393-10T>C
|
rs2148364134
|
|
|
NM_005629.4(SLC6A8):c.1393-11C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1393-12_1395del
|
rs2148364124
|
|
|
NM_005629.4(SLC6A8):c.1393-13C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1393-14G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1393-18C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1393-18C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1393-19A>G
|
|
|
|
NM_005629.4(SLC6A8):c.1393-3del
|
|
|
|
NM_005629.4(SLC6A8):c.1393-4C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1393-4C>T
|
rs1557045462
|
|
|
NM_005629.4(SLC6A8):c.1393-5C>T
|
rs782213020
|
|
|
NM_005629.4(SLC6A8):c.1393-6C>G
|
rs2148364146
|
|
|
NM_005629.4(SLC6A8):c.1393-7C>A
|
rs373525249
|
|
|
NM_005629.4(SLC6A8):c.1393-7C>T
|
rs373525249
|
|
|
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
|
rs1603217473
|
|
|
NM_005629.4(SLC6A8):c.1410C>T (p.Phe470=)
|
rs2148364172
|
|
|
NM_005629.4(SLC6A8):c.1416G>A (p.Leu472=)
|
rs1557045478
|
|
|
NM_005629.4(SLC6A8):c.1416G>C (p.Leu472=)
|
rs1557045478
|
|
|
NM_005629.4(SLC6A8):c.1419T>C (p.Phe473=)
|
|
|
|
NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=)
|
rs2091475721
|
|
|
NM_005629.4(SLC6A8):c.1428C>A (p.Tyr476Ter)
|
rs1239466041
|
|
|
NM_005629.4(SLC6A8):c.1434C>T (p.Ala478=)
|
|
|
|
NM_005629.4(SLC6A8):c.1438G>A (p.Gly480Ser)
|
rs2148364228
|
|
|
NM_005629.4(SLC6A8):c.1439G>A (p.Gly480Asp)
|
|
|
|
NM_005629.4(SLC6A8):c.1443C>G (p.Thr481=)
|
|
|
|
NM_005629.4(SLC6A8):c.1446C>G (p.Thr482=)
|
rs2148364242
|
|
|
NM_005629.4(SLC6A8):c.144C>G (p.Ala48=)
|
rs782232933
|
|
|
NM_005629.4(SLC6A8):c.1452C>T (p.Leu484=)
|
rs376421364
|
|
|
NM_005629.4(SLC6A8):c.1455G>A (p.Trp485Ter)
|
rs1569539443
|
|
|
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu)
|
rs1463935788
|
|
|
NM_005629.4(SLC6A8):c.1467G>C (p.Trp489Cys)
|
|
|
|
NM_005629.4(SLC6A8):c.1470G>A (p.Glu490=)
|
|
|
|
NM_005629.4(SLC6A8):c.1476G>A (p.Val492=)
|
|
|
|
NM_005629.4(SLC6A8):c.147G>T (p.Val49=)
|
rs1275670151
|
|
|
NM_005629.4(SLC6A8):c.1482G>A (p.Val494=)
|
|
|
|
NM_005629.4(SLC6A8):c.1482G>C (p.Val494=)
|
|
|
|
NM_005629.4(SLC6A8):c.1487G>A (p.Trp496Ter)
|
|
|
|
NM_005629.4(SLC6A8):c.148C>T (p.Pro50Ser)
|
rs2148358552
|
|
|
NM_005629.4(SLC6A8):c.1491G>A (p.Val497=)
|
|
|
|
NM_005629.4(SLC6A8):c.1495+14dup
|
|
|
|
NM_005629.4(SLC6A8):c.1495+16G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1495+16GGGCT[3]
|
|
|
|
NM_005629.4(SLC6A8):c.1495+4G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1495+7C>T
|
rs1603217530
|
|
|
NM_005629.4(SLC6A8):c.1495+8A>G
|
rs1057523669
|
|
|
NM_005629.4(SLC6A8):c.1495G>A (p.Gly499Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.1496-10C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1496-11C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1496-1_1510del
|
rs2148364395
|
|
|
NM_005629.4(SLC6A8):c.1496-20C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1496-7G>C
|
rs781814962
|
|
|
NM_005629.4(SLC6A8):c.1498G>A (p.Ala500Thr)
|
rs2148364400
|
|
|
NM_005629.4(SLC6A8):c.149C>A (p.Pro50Gln)
|
|
|
|
NM_005629.4(SLC6A8):c.1500T>C (p.Ala500=)
|
rs2148364402
|
|
|
NM_005629.4(SLC6A8):c.1501G>A (p.Asp501Asn)
|
rs2091476989
|
|
|
NM_005629.4(SLC6A8):c.150G>T (p.Pro50=)
|
|
|
|
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del)
|
rs2091477188
|
|
|
NM_005629.4(SLC6A8):c.1515C>G (p.Asp505Glu)
|
rs151335200
|
|
|
NM_005629.4(SLC6A8):c.1518C>T (p.Asp506=)
|
rs1603217612
|
|
|
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
|
|
|
|
NM_005629.4(SLC6A8):c.1526G>A (p.Cys509Tyr)
|
rs2148364452
|
|
|
NM_005629.4(SLC6A8):c.1527T>G (p.Cys509Trp)
|
rs2148364458
|
|
|
NM_005629.4(SLC6A8):c.152C>T (p.Pro51Leu)
|
rs2091437446
|
|
|
NM_005629.4(SLC6A8):c.1539C>T (p.Tyr513=)
|
|
|
|
NM_005629.4(SLC6A8):c.153G>A (p.Pro51=)
|
rs782351119
|
|
|
NM_005629.4(SLC6A8):c.153G>C (p.Pro51=)
|
rs782351119
|
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
|
NM_005629.4(SLC6A8):c.1541G>C (p.Arg514Pro)
|
|
|
|
NM_005629.4(SLC6A8):c.1545T>C (p.Pro515=)
|
|
|
|
NM_005629.4(SLC6A8):c.1548C>T (p.Cys516=)
|
|
|
|
NM_005629.4(SLC6A8):c.1551C>G (p.Pro517=)
|
|
|
|
NM_005629.4(SLC6A8):c.1551del (p.Trp518fs)
|
rs2148364489
|
|
|
NM_005629.4(SLC6A8):c.1557G>A (p.Met519Ile)
|
|
|
|
NM_005629.4(SLC6A8):c.1574T>C (p.Phe525Ser)
|
|
|
|
NM_005629.4(SLC6A8):c.1585C>T (p.Leu529=)
|
rs2148364519
|
|
|
NM_005629.4(SLC6A8):c.1587G>A (p.Leu529=)
|
|
|
|
NM_005629.4(SLC6A8):c.1590C>T (p.Val530=)
|
|
|
|
NM_005629.4(SLC6A8):c.1596+11G>A
|
rs782481342
|
|
|
NM_005629.4(SLC6A8):c.1596+11G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1596+14dup
|
|
|
|
NM_005629.4(SLC6A8):c.1596+15_1596+27del
|
|
|
|
NM_005629.4(SLC6A8):c.1596+19G>A
|
rs2148364555
|
|
|
NM_005629.4(SLC6A8):c.1596+20G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1596+24_1597-41dup
|
rs782797794
|
|
|
NM_005629.4(SLC6A8):c.1596+6G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1596+7G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1596+9T>C
|
|
|
|
NM_005629.4(SLC6A8):c.1597-11C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1597-12del
|
|
|
|
NM_005629.4(SLC6A8):c.1597-17A>G
|
|
|
|
NM_005629.4(SLC6A8):c.1597-20C>G
|
rs781894858
|
|
|
NM_005629.4(SLC6A8):c.1597-4G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1597-6C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1597-6C>T
|
rs2091478800
|
|
|
NM_005629.4(SLC6A8):c.1597-8G>C
|
rs2148364655
|
|
|
NM_005629.4(SLC6A8):c.1602C>T (p.Ile534=)
|
rs782582776
|
|
|
NM_005629.4(SLC6A8):c.1624T>C (p.Tyr542His)
|
rs2148364687
|
|
|
NM_005629.4(SLC6A8):c.1627G>C (p.Glu543Gln)
|
rs782028471
|
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
|
NM_005629.4(SLC6A8):c.1632G>C (p.Pro544=)
|
rs782393373
|
|
|
NM_005629.4(SLC6A8):c.1638C>G (p.Val546=)
|
|
|
|
NM_005629.4(SLC6A8):c.1639T>C (p.Tyr547His)
|
|
|
|
NM_005629.4(SLC6A8):c.1640ACA[2] (p.Asn549del)
|
rs781807874
|
|
|
NM_005629.4(SLC6A8):c.1644C>T (p.Asn548=)
|
|
|
|
NM_005629.4(SLC6A8):c.1659C>G (p.Tyr553Ter)
|
rs1569539466
|
|
|
NM_005629.4(SLC6A8):c.1659C>T (p.Tyr553=)
|
rs1569539466
|
|
|
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)
|
rs397515559
|
|
|
NM_005629.4(SLC6A8):c.1677C>T (p.Ala559=)
|
rs1057522460
|
|
|
NM_005629.4(SLC6A8):c.1683C>G (p.Gly561=)
|
|
|
|
NM_005629.4(SLC6A8):c.1689C>G (p.Ala563=)
|
rs2148364772
|
|
|
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu)
|
rs201044530
|
|
|
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=)
|
rs201044530
|
|
|
NM_005629.4(SLC6A8):c.1695C>G (p.Ala565=)
|
|
|
|
NM_005629.4(SLC6A8):c.1695C>T (p.Ala565=)
|
|
|
|
NM_005629.4(SLC6A8):c.1698G>T (p.Leu566=)
|
|
|
|
NM_005629.4(SLC6A8):c.1704C>T (p.Ser568=)
|
rs2148364807
|
|
|
NM_005629.4(SLC6A8):c.1708C>T (p.Leu570=)
|
rs1379981266
|
|
|
NM_005629.4(SLC6A8):c.1713C>G (p.Cys571Trp)
|
rs782244505
|
|
|
NM_005629.4(SLC6A8):c.1716G>A (p.Val572=)
|
|
|
|
NM_005629.4(SLC6A8):c.1721T>C (p.Leu574Pro)
|
|
|
|
NM_005629.4(SLC6A8):c.1725C>T (p.His575=)
|
rs2148364840
|
|
|
NM_005629.4(SLC6A8):c.1729C>T (p.Leu577=)
|
|
|
|
NM_005629.4(SLC6A8):c.1732G>A (p.Gly578Ser)
|
|
|
|
NM_005629.4(SLC6A8):c.1734C>T (p.Gly578=)
|
|
|
|
NM_005629.4(SLC6A8):c.1737C>T (p.Cys579=)
|
|
|
|
NM_005629.4(SLC6A8):c.1738C>G (p.Leu580Val)
|
|
|
|
NM_005629.4(SLC6A8):c.174G>A (p.Gln58=)
|
rs1557043848
|
|
|
NM_005629.4(SLC6A8):c.1752G>A (p.Lys584=)
|
|
|
|
NM_005629.4(SLC6A8):c.1755C>T (p.Gly585=)
|
|
|
|
NM_005629.4(SLC6A8):c.1758C>T (p.Thr586=)
|
rs2148364882
|
|
|
NM_005629.4(SLC6A8):c.1760T>C (p.Met587Thr)
|
|
|
|
NM_005629.4(SLC6A8):c.1767+10C>A
|
rs2148364923
|
|
|
NM_005629.4(SLC6A8):c.1767+10C>T
|
rs2148364923
|
|
|
NM_005629.4(SLC6A8):c.1767+11C>A
|
rs782709232
|
|
|
NM_005629.4(SLC6A8):c.1767+11C>T
|
rs782709232
|
|
|
NM_005629.4(SLC6A8):c.1767+12G>A
|
|
|
|
NM_005629.4(SLC6A8):c.1767+12GCCCG[3]
|
|
|
|
NM_005629.4(SLC6A8):c.1767+13C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1767+15C>A
|
|
|
|
NM_005629.4(SLC6A8):c.1767+15C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1767+16_1767+24dup
|
|
|
|
NM_005629.4(SLC6A8):c.1767+16_1767+33del
|
rs781868894
|
|
|
NM_005629.4(SLC6A8):c.1767+19C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1767+20C>A
|
|
|
|
NM_005629.4(SLC6A8):c.1767+20C>T
|
rs782612504
|
|
|
NM_005629.4(SLC6A8):c.1767+21_1767+29dup
|
|
|
|
NM_005629.4(SLC6A8):c.1767+6G>C
|
|
|
|
NM_005629.4(SLC6A8):c.1767+7C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1767+8T>C
|
|
|
|
NM_005629.4(SLC6A8):c.1767+8_1767+11dup
|
rs1185206859
|
|
|
NM_005629.4(SLC6A8):c.1768-11C>G
|
|
|
|
NM_005629.4(SLC6A8):c.1768-11C>T
|
rs2148365187
|
|
|
NM_005629.4(SLC6A8):c.1768-11CT[3]
|
rs782682148
|
|
|
NM_005629.4(SLC6A8):c.1768-11_1768-9del
|
|
|
|
NM_005629.4(SLC6A8):c.1768-13T>C
|
|
|
|
NM_005629.4(SLC6A8):c.1768-14C>G
|
rs2148365184
|
|
|
NM_005629.4(SLC6A8):c.1768-14C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1768-15C>T
|
|
|
|
NM_005629.4(SLC6A8):c.1768-8_1768-7del
|
rs782682148
|
|
|
NM_005629.4(SLC6A8):c.1770C>T (p.Arg590=)
|
rs2091482104
|
|
|
NM_005629.4(SLC6A8):c.1785C>G (p.Thr595=)
|
rs1557045822
|
|
|
NM_005629.4(SLC6A8):c.1790C>T (p.Pro597Leu)
|
rs1060502811
|
|
|
NM_005629.4(SLC6A8):c.1794C>A (p.Ile598=)
|
|
|
|
NM_005629.4(SLC6A8):c.1794C>G (p.Ile598Met)
|
rs782587560
|
|
|
NM_005629.4(SLC6A8):c.1798G>A (p.Gly600Ser)
|
rs1557045828
|
|
|
NM_005629.4(SLC6A8):c.1799G>A (p.Gly600Asp)
|
rs2148365237
|
|
|
NM_005629.4(SLC6A8):c.1809C>G (p.His603Gln)
|
|
|
|
NM_005629.4(SLC6A8):c.1809C>T (p.His603=)
|
|
|
|
NM_005629.4(SLC6A8):c.1813G>A (p.Glu605Lys)
|
|
|
|
NM_005629.4(SLC6A8):c.1819C>T (p.Arg607Ter)
|
rs1377233837
|
|
|
NM_005629.4(SLC6A8):c.1820G>A (p.Arg607Gln)
|
rs1557045843
|
|
|
NM_005629.4(SLC6A8):c.1828G>C (p.Asp610His)
|
rs2148365271
|
|
|
NM_005629.4(SLC6A8):c.1833A>C (p.Ala611=)
|
rs1557045848
|
|
|
NM_005629.4(SLC6A8):c.1833A>G (p.Ala611=)
|
rs1557045848
|
|
|
NM_005629.4(SLC6A8):c.1839C>T (p.Val613=)
|
rs2148365291
|
|
|
NM_005629.4(SLC6A8):c.183C>T (p.Phe61=)
|
rs2148358572
|
|
|
NM_005629.4(SLC6A8):c.1842G>A (p.Arg614=)
|
|
|
|
NM_005629.4(SLC6A8):c.1846C>A (p.Leu616Met)
|
|
|
|
NM_005629.4(SLC6A8):c.1853C>T (p.Thr618Ile)
|
rs1557045853
|
|
|
NM_005629.4(SLC6A8):c.1854C>A (p.Thr618=)
|
|
|
|
NM_005629.4(SLC6A8):c.1854C>T (p.Thr618=)
|
rs2091482761
|
|
|
NM_005629.4(SLC6A8):c.1855C>T (p.Leu619=)
|
rs1434101271
|
|
|
NM_005629.4(SLC6A8):c.1857G>C (p.Leu619=)
|
|
|
|
NM_005629.4(SLC6A8):c.1860C>T (p.Thr620=)
|
rs1557045857
|
|
|
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser)
|
rs782388832
|
|
|
NM_005629.4(SLC6A8):c.1863A>C (p.Pro621=)
|
|
|
|
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu)
|
rs1160275875
|
|
|
NM_005629.4(SLC6A8):c.186C>T (p.Ile62=)
|
rs2148358582
|
|
|
NM_005629.4(SLC6A8):c.1881_1882insT (p.Val628fs)
|
|
|
|
NM_005629.4(SLC6A8):c.1887C>T (p.Val629=)
|
rs1485660118
|
|
|
NM_005629.4(SLC6A8):c.1899T>C (p.Ser633=)
|
rs2091483278
|
|
|
NM_005629.4(SLC6A8):c.18C>G (p.Ala6=)
|
rs1557043736
|
|
|
NM_005629.4(SLC6A8):c.18C>T (p.Ala6=)
|
|
|
|
NM_005629.4(SLC6A8):c.1901T>A (p.Val634Asp)
|
rs1236176576
|
|
|
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala)
|
rs1236176576
|
|
|
NM_005629.4(SLC6A8):c.1902C>A (p.Val634=)
|
rs2148365403
|
|
|
NM_005629.4(SLC6A8):c.1902C>G (p.Val634=)
|
|
|
|
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del)
|
rs2091437670
|
|
|
NM_005629.4(SLC6A8):c.192G>C (p.Ser64=)
|
|
|
|
NM_005629.4(SLC6A8):c.192G>T (p.Ser64=)
|
|
|
|
NM_005629.4(SLC6A8):c.196G>A (p.Val66Met)
|
|
|
|
NM_005629.4(SLC6A8):c.198G>C (p.Val66=)
|
|
|
|
NM_005629.4(SLC6A8):c.207C>T (p.Ala69=)
|
|
|
|
NM_005629.4(SLC6A8):c.214T>C (p.Leu72=)
|
rs1603213021
|
|
|
NM_005629.4(SLC6A8):c.219C>T (p.Gly73=)
|
|
|
|
NM_005629.4(SLC6A8):c.225G>T (p.Val75=)
|
rs2148358619
|
|
|
NM_005629.4(SLC6A8):c.237C>G (p.Pro79=)
|
rs2148358626
|
|
|
NM_005629.4(SLC6A8):c.238T>G (p.Tyr80Asp)
|
|
|
|
NM_005629.4(SLC6A8):c.240C>T (p.Tyr80=)
|
rs2148358628
|
|
|
NM_005629.4(SLC6A8):c.242T>G (p.Leu81Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.258C>T (p.Gly86=)
|
|
|
|
NM_005629.4(SLC6A8):c.25G>T (p.Gly9Cys)
|
rs2091436097
|
|
|
NM_005629.4(SLC6A8):c.262+11C>T
|
|
|
|
NM_005629.4(SLC6A8):c.262+12C>T
|
|
|
|
NM_005629.4(SLC6A8):c.262+16C>T
|
|
|
|
NM_005629.4(SLC6A8):c.262+17G>C
|
|
|
|
NM_005629.4(SLC6A8):c.262+19C>T
|
|
|
|
NM_005629.4(SLC6A8):c.262+8C>T
|
|
|
|
NM_005629.4(SLC6A8):c.263-10C>T
|
|
|
|
NM_005629.4(SLC6A8):c.263-11T>C
|
|
|
|
NM_005629.4(SLC6A8):c.263-12C>T
|
|
|
|
NM_005629.4(SLC6A8):c.263-16G>A
|
rs1557044160
|
|
|
NM_005629.4(SLC6A8):c.263-18C>T
|
|
|
|
NM_005629.4(SLC6A8):c.263-20C>T
|
|
|
|
NM_005629.4(SLC6A8):c.263-2A>G
|
rs1569539244
|
|
|
NM_005629.4(SLC6A8):c.263-3C>T
|
rs1557044164
|
|
|
NM_005629.4(SLC6A8):c.263-3_271del
|
|
|
|
NM_005629.4(SLC6A8):c.263-6C>T
|
rs2148360091
|
|
|
NM_005629.4(SLC6A8):c.263-7C>T
|
rs2148360085
|
|
|
NM_005629.4(SLC6A8):c.263-9C>T
|
rs1557044163
|
|
|
NM_005629.4(SLC6A8):c.263G>A (p.Gly88Asp)
|
|
|
|
NM_005629.4(SLC6A8):c.273T>C (p.Leu91=)
|
|
|
|
NM_005629.4(SLC6A8):c.276T>A (p.Ile92=)
|
|
|
|
NM_005629.4(SLC6A8):c.288G>A (p.Leu96=)
|
rs2091448699
|
|
|
NM_005629.4(SLC6A8):c.294C>T (p.Ala98=)
|
rs2148360122
|
|
|
NM_005629.4(SLC6A8):c.30C>T (p.Ile10=)
|
rs1057522627
|
|
|
NM_005629.4(SLC6A8):c.315T>C (p.Ile105=)
|
rs2148360127
|
|
|
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
|
rs80338739
|
|
|
NM_005629.4(SLC6A8):c.322T>A (p.Leu108Ile)
|
rs2148360140
|
|
|
NM_005629.4(SLC6A8):c.324A>G (p.Leu108=)
|
|
|
|
NM_005629.4(SLC6A8):c.327G>T (p.Glu109Asp)
|
|
|
|
NM_005629.4(SLC6A8):c.332C>T (p.Ser111Leu)
|
rs782704042
|
|
|
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=)
|
rs781916894
|
|
|
NM_005629.4(SLC6A8):c.333G>T (p.Ser111=)
|
|
|
|
NM_005629.4(SLC6A8):c.334C>T (p.Leu112=)
|
|
|
|
NM_005629.4(SLC6A8):c.336G>A (p.Leu112=)
|
|
|
|
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)
|
rs2091449037
|
|
|
NM_005629.4(SLC6A8):c.354C>G (p.Ala118=)
|
rs1557044183
|
|
|
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=)
|
rs1557044183
|
|
|
NM_005629.4(SLC6A8):c.366T>C (p.Asn122=)
|
|
|
|
NM_005629.4(SLC6A8):c.390C>T (p.Phe130=)
|
rs2148360178
|
|
|
NM_005629.4(SLC6A8):c.394+10C>T
|
rs2148360189
|
|
|
NM_005629.4(SLC6A8):c.394+11dup
|
rs782774761
|
|
|
NM_005629.4(SLC6A8):c.394+17C>G
|
|
|
|
NM_005629.4(SLC6A8):c.394+22_394+42del
|
rs2091449313
|
|
|
NM_005629.4(SLC6A8):c.394+2T>G
|
|
|
|
NM_005629.4(SLC6A8):c.395-13T>C
|
|
|
|
NM_005629.4(SLC6A8):c.395-3C>T
|
|
|
|
NM_005629.4(SLC6A8):c.395-7G>A
|
rs2148360949
|
|
|
NM_005629.4(SLC6A8):c.397C>G (p.Leu133Val)
|
|
|
|
NM_005629.4(SLC6A8):c.39G>A (p.Val13=)
|
rs2148358354
|
|
|
NM_005629.4(SLC6A8):c.406G>A (p.Ala136Thr)
|
rs1557044406
|
|
|
NM_005629.4(SLC6A8):c.413T>A (p.Met138Lys)
|
|
|
|
NM_005629.4(SLC6A8):c.418_421dup (p.Val141fs)
|
rs2091455005
|
|
|
NM_005629.4(SLC6A8):c.420C>G (p.Ile140Met)
|
|
|
|
NM_005629.4(SLC6A8):c.420C>T (p.Ile140=)
|
rs2091455049
|
|
|
NM_005629.4(SLC6A8):c.429C>T (p.Tyr143=)
|
rs2148360995
|
|
|
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=)
|
rs1060504719
|
|
|
NM_005629.4(SLC6A8):c.437C>T (p.Thr146Ile)
|
|
|
|
NM_005629.4(SLC6A8):c.444C>T (p.Tyr148=)
|
|
|
|
NM_005629.4(SLC6A8):c.444_445del (p.Ile149fs)
|
rs2148361002
|
|
|
NM_005629.4(SLC6A8):c.447C>T (p.Ile149=)
|
rs1177945832
|
|
|
NM_005629.4(SLC6A8):c.453_454insGCTGAGGCGGGAGAATCTCTTGAAGCCGGGAAGCAGAGGTTGCAGTGAACCGACATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAATAAATAAAAATAAAATAAAATAAAACAAGGTCTCATTCTCTTACCCAGGCTGGAGTGCAGTGGTACAATCAGAGCTCACCCCAGCCACAAACTCCTGGACTCAAGTGATCCTCCCACCTCAGCCTCCCTTGAATAGCTAGGACTACAAGTGTATGCCTCCAGGCCTGGCTAATTGTTTTTAATTTTTTGGTAGAGGCAGGGATCTCATTGTATTGCCCAGGCTGGGGTCCCAAACTCCTGATCACAAGTGAACCTCCTGCCTCAGCCTCTGAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCTCCCTGACAATTTCTGGCTGCATGGACTTCTGGTTACAAGCAGGGAAACTGAGGCCTGGATACAGCAAACAGGATCTGGCCCAGCTTTAAGTGGGGAACATGCAGTTTGGGGGACCCAGGCTCATGGTG (p.Leu152delinsAlaGluAlaGlyGluSerLeuGluAlaGlyLysGlnArgLeuGlnTer)
|
rs2148361006
|
|
|
NM_005629.4(SLC6A8):c.454C>T (p.Leu152=)
|
rs1603215008
|
|
|
NM_005629.4(SLC6A8):c.457dup (p.Ala153fs)
|
rs1603215013
|
|
|
NM_005629.4(SLC6A8):c.464G>T (p.Gly155Val)
|
|
|
|
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del)
|
rs2091455264
|
|
|
NM_005629.4(SLC6A8):c.468C>T (p.Phe156=)
|
|
|
|
NM_005629.4(SLC6A8):c.471T>C (p.Tyr157=)
|
rs1057521561
|
|
|
NM_005629.4(SLC6A8):c.486C>G (p.Ser162=)
|
rs1414869177
|
|
|
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu)
|
rs1057524586
|
|
|
NM_005629.4(SLC6A8):c.48C>T (p.Asp16=)
|
rs1057524586
|
|
|
NM_005629.4(SLC6A8):c.492C>G (p.Thr164=)
|
rs1430194297
|
|
|
NM_005629.4(SLC6A8):c.496A>G (p.Thr166Ala)
|
rs1603215030
|
|
|
NM_005629.4(SLC6A8):c.497C>T (p.Thr166Met)
|
rs1479462836
|
|
|
NM_005629.4(SLC6A8):c.501G>A (p.Leu167=)
|
|
|
|
NM_005629.4(SLC6A8):c.510C>T (p.Ala170=)
|
rs2148361041
|
|
|
NM_005629.4(SLC6A8):c.513A>G (p.Thr171=)
|
|
|
|
NM_005629.4(SLC6A8):c.516T>C (p.Cys172=)
|
rs1480583650
|
|
|
NM_005629.4(SLC6A8):c.51G>C (p.Glu17Asp)
|
rs2091436339
|
|
|
NM_005629.4(SLC6A8):c.524C>T (p.Thr175Ile)
|
|
|
|
NM_005629.4(SLC6A8):c.527G>C (p.Trp176Ser)
|
rs2148361058
|
|
|
NM_005629.4(SLC6A8):c.531C>T (p.Asn177=)
|
|
|
|
NM_005629.4(SLC6A8):c.537C>G (p.Pro179=)
|
|
|
|
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
|
rs1557043770
|
|
|
NM_005629.4(SLC6A8):c.548A>G (p.Glu183Gly)
|
|
|
|
NM_005629.4(SLC6A8):c.54G>A (p.Lys18=)
|
rs1261794545
|
|
|
NM_005629.4(SLC6A8):c.564A>G (p.Glu188=)
|
|
|
|
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs)
|
rs1557044442
|
|
|
NM_005629.4(SLC6A8):c.573C>G (p.Ala191=)
|
|
|
|
NM_005629.4(SLC6A8):c.576T>C (p.Asn192=)
|
|
|
|
NM_005629.4(SLC6A8):c.581G>A (p.Ser194Asn)
|
|
|
|
NM_005629.4(SLC6A8):c.585G>C (p.Leu195=)
|
|
|
|
NM_005629.4(SLC6A8):c.592C>A (p.Leu198Ile)
|
rs1557044451
|
|
|
NM_005629.4(SLC6A8):c.593T>G (p.Leu198Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.600T>C (p.Cys200=)
|
rs2148361124
|
|
|
NM_005629.4(SLC6A8):c.602A>G (p.Asp201Gly)
|
|
|
|
NM_005629.4(SLC6A8):c.606G>A (p.Gln202=)
|
rs2148361132
|
|
|
NM_005629.4(SLC6A8):c.60C>G (p.Gly20=)
|
|
|
|
NM_005629.4(SLC6A8):c.60C>T (p.Gly20=)
|
|
|
|
NM_005629.4(SLC6A8):c.611C>T (p.Ala204Val)
|
rs781871613
|
|
|
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp)
|
rs1569539288
|
|
|
NM_005629.4(SLC6A8):c.612T>C (p.Ala204=)
|
|
|
|
NM_005629.4(SLC6A8):c.615C>T (p.Asp205=)
|
rs1603215203
|
|
|
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
|
|
|
|
NM_005629.4(SLC6A8):c.618C>T (p.Arg206=)
|
rs2091456011
|
|
|
NM_005629.4(SLC6A8):c.61C>T (p.Pro21Ser)
|
|
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
|
NM_005629.4(SLC6A8):c.627T>G (p.Pro209=)
|
rs1057521539
|
|
|
NM_005629.4(SLC6A8):c.631_633delinsTGG (p.Ile211Trp)
|
|
|
|
NM_005629.4(SLC6A8):c.644+10G>T
|
rs2148361214
|
|
|
NM_005629.4(SLC6A8):c.644+12A>T
|
|
|
|
NM_005629.4(SLC6A8):c.644+14C>G
|
rs782270185
|
|
|
NM_005629.4(SLC6A8):c.644+14C>T
|
|
|
|
NM_005629.4(SLC6A8):c.644+16C>G
|
|
|
|
NM_005629.4(SLC6A8):c.644+8C>A
|
rs782433720
|
|
|
NM_005629.4(SLC6A8):c.644+9G>A
|
rs200353790
|
|
|
NM_005629.4(SLC6A8):c.645-12T>A
|
|
|
|
NM_005629.4(SLC6A8):c.645-16_645-15inv
|
|
|
|
NM_005629.4(SLC6A8):c.645-17C>T
|
|
|
|
NM_005629.4(SLC6A8):c.645-18CCTC[4]
|
|
|
|
NM_005629.4(SLC6A8):c.645-19A>G
|
rs2148361615
|
|
|
NM_005629.4(SLC6A8):c.645-4C>T
|
rs2148361633
|
|
|
NM_005629.4(SLC6A8):c.645-6C>A
|
|
|
|
NM_005629.4(SLC6A8):c.645-6C>G
|
rs377181706
|
|
|
NM_005629.4(SLC6A8):c.654C>G (p.Val218=)
|
|
|
|
NM_005629.4(SLC6A8):c.655T>C (p.Leu219=)
|
|
|
|
NM_005629.4(SLC6A8):c.661C>T (p.Leu221=)
|
|
|
|
NM_005629.4(SLC6A8):c.667G>A (p.Gly223Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.66C>T (p.Leu22=)
|
rs2148358395
|
|
|
NM_005629.4(SLC6A8):c.672A>G (p.Gly224=)
|
rs1569539299
|
|
|
NM_005629.4(SLC6A8):c.687G>T (p.Gly229=)
|
|
|
|
NM_005629.4(SLC6A8):c.699G>A (p.Trp233Ter)
|
rs2091458828
|
|
|
NM_005629.4(SLC6A8):c.6G>A (p.Ala2=)
|
|
|
|
NM_005629.4(SLC6A8):c.702G>A (p.Glu234=)
|
|
|
|
NM_005629.4(SLC6A8):c.711T>G (p.Leu237=)
|
|
|
|
NM_005629.4(SLC6A8):c.715C>T (p.Leu239=)
|
|
|
|
NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter)
|
|
|
|
NM_005629.4(SLC6A8):c.72G>T (p.Ala24=)
|
rs1295513059
|
|
|
NM_005629.4(SLC6A8):c.742T>C (p.Phe248Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.755del (p.Lys252fs)
|
|
|
|
NM_005629.4(SLC6A8):c.759G>T (p.Gly253=)
|
rs2148361726
|
|
|
NM_005629.4(SLC6A8):c.75C>G (p.Pro25=)
|
rs1603212933
|
|
|
NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg)
|
|
|
|
NM_005629.4(SLC6A8):c.777+6A>G
|
rs2148361744
|
|
|
NM_005629.4(SLC6A8):c.777+7C>G
|
|
|
|
NM_005629.4(SLC6A8):c.777+8T>C
|
|
|
|
NM_005629.4(SLC6A8):c.777+9_777+16dup
|
rs782370799
|
|
|
NM_005629.4(SLC6A8):c.778-10G>A
|
|
|
|
NM_005629.4(SLC6A8):c.778-11T>C
|
|
|
|
NM_005629.4(SLC6A8):c.778-14G>T
|
|
|
|
NM_005629.4(SLC6A8):c.778-3dup
|
|
|
|
NM_005629.4(SLC6A8):c.778-4C>G
|
rs2091465775
|
|
|
NM_005629.4(SLC6A8):c.778-8C>G
|
rs781860529
|
|
|
NM_005629.4(SLC6A8):c.778-8C>T
|
rs781860529
|
|
|
NM_005629.4(SLC6A8):c.783G>A (p.Val261=)
|
|
|
|
NM_005629.4(SLC6A8):c.783G>C (p.Val261=)
|
rs561103166
|
|
|
NM_005629.4(SLC6A8):c.787T>C (p.Phe263Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.792T>C (p.Thr264=)
|
rs1224242554
|
|
|
NM_005629.4(SLC6A8):c.798A>G (p.Thr266=)
|
rs2148362721
|
|
|
NM_005629.4(SLC6A8):c.798A>T (p.Thr266=)
|
rs2148362721
|
|
|
NM_005629.4(SLC6A8):c.801C>T (p.Phe267=)
|
rs2148362725
|
|
|
NM_005629.4(SLC6A8):c.825G>A (p.Leu275=)
|
|
|
|
NM_005629.4(SLC6A8):c.837A>C (p.Gly279=)
|
|
|
|
NM_005629.4(SLC6A8):c.838G>T (p.Val280Leu)
|
|
|
|
NM_005629.4(SLC6A8):c.840G>T (p.Val280=)
|
|
|
|
NM_005629.4(SLC6A8):c.841C>A (p.Leu281Met)
|
rs2091466286
|
|
|
NM_005629.4(SLC6A8):c.844del (p.Leu282fs)
|
rs2148362786
|
|
|
NM_005629.4(SLC6A8):c.84C>T (p.Asp28=)
|
rs2148358417
|
|
|
NM_005629.4(SLC6A8):c.856C>G (p.Leu286Val)
|
rs782005985
|
|
|
NM_005629.4(SLC6A8):c.859G>C (p.Asp287His)
|
|
|
|
NM_005629.4(SLC6A8):c.864C>T (p.Gly288=)
|
rs2148362802
|
|
|
NM_005629.4(SLC6A8):c.868A>G (p.Ile290Val)
|
|
|
|
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=)
|
rs782373793
|
|
|
NM_005629.4(SLC6A8):c.894A>G (p.Ser298=)
|
|
|
|
NM_005629.4(SLC6A8):c.8AGA[1] (p.Lys4del)
|
rs2148358298
|
|
|
NM_005629.4(SLC6A8):c.901G>C (p.Gly301Arg)
|
rs2091466491
|
|
|
NM_005629.4(SLC6A8):c.903G>A (p.Gly301=)
|
rs2091466505
|
|
|
NM_005629.4(SLC6A8):c.903G>T (p.Gly301=)
|
rs2091466505
|
|
|
NM_005629.4(SLC6A8):c.912+19G>A
|
rs782518872
|
|
|
NM_005629.4(SLC6A8):c.912+19G>C
|
|
|
|
NM_005629.4(SLC6A8):c.912+2T>G
|
rs2091466607
|
|
|
NM_005629.4(SLC6A8):c.912+3GAGGTG[3]
|
rs782675060
|
|
|
NM_005629.4(SLC6A8):c.912+6G>C
|
|
|
|
NM_005629.4(SLC6A8):c.912+9G>C
|
rs782694291
|
|
|
NM_005629.4(SLC6A8):c.913-10C>G
|
|
|
|
NM_005629.4(SLC6A8):c.913-13G>A
|
|
|
|
NM_005629.4(SLC6A8):c.913-19C>A
|
|
|
|
NM_005629.4(SLC6A8):c.913-19C>T
|
rs782810502
|
|
|
NM_005629.4(SLC6A8):c.913-20G>A
|
|
|
|
NM_005629.4(SLC6A8):c.91C>A (p.Pro31Thr)
|
|
|
|
NM_005629.4(SLC6A8):c.927G>C (p.Ala309=)
|
|
|
|
NM_005629.4(SLC6A8):c.930G>A (p.Gly310=)
|
rs2148362930
|
|
|
NM_005629.4(SLC6A8):c.936G>A (p.Gln312=)
|
|
|
|
NM_005629.4(SLC6A8):c.939T>A (p.Ile313=)
|
|
|
|
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=)
|
rs782197450
|
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
|
NM_005629.4(SLC6A8):c.947C>T (p.Ser316Phe)
|
rs2148362940
|
|
|
NM_005629.4(SLC6A8):c.963G>C (p.Leu321=)
|
|
|
|
NM_005629.4(SLC6A8):c.964G>C (p.Gly322Arg)
|
rs1603216830
|
|
|
NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs)
|
|
|
|
NM_005629.4(SLC6A8):c.96C>G (p.Ala32=)
|
|
|
|
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)
|
rs1060502808
|
|
|
NM_005629.4(SLC6A8):c.981G>A (p.Leu327=)
|
rs1569539360
|
|
|
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=)
|
rs1276576915
|
|
|
NM_005629.4(SLC6A8):c.984C>T (p.Gly328=)
|
|
|
|
NM_005629.4(SLC6A8):c.990C>T (p.Tyr330=)
|
rs1057523301
|
|
|
NM_005629.4(SLC6A8):c.9G>A (p.Lys3=)
|
rs2148358311
|
|
|
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly)
|
rs199838222
|
|
|
NM_005881.4(BCKDK):c.1065T>C (p.His355=)
|
rs1381365816
|
|
|
NM_005881.4(BCKDK):c.1094+7C>A
|
|
|
|
NM_005881.4(BCKDK):c.117C>G (p.His39Gln)
|
|
|
|
NM_005881.4(BCKDK):c.1182G>A (p.Thr394=)
|
|
|
|
NM_005881.4(BCKDK):c.1195C>A (p.Arg399=)
|
|
|
|
NM_005881.4(BCKDK):c.1202G>A (p.Arg401His)
|
|
|
|
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu)
|
rs1596808163
|
|
|
NM_005881.4(BCKDK):c.195+10G>A
|
rs1467318514
|
|
|
NM_005881.4(BCKDK):c.196-14del
|
|
|
|
NM_005881.4(BCKDK):c.196-4C>T
|
|
|
|
NM_005881.4(BCKDK):c.196-8del
|
rs1596808347
|
|
|
NM_005881.4(BCKDK):c.219C>G (p.Thr73=)
|
|
|
|
NM_005881.4(BCKDK):c.31C>T (p.Pro11Ser)
|
rs764651763
|
|
|
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr)
|
rs746459006
|
|
|
NM_005881.4(BCKDK):c.34G>A (p.Gly12Arg)
|
rs1414828775
|
|
|
NM_005881.4(BCKDK):c.364A>G (p.Ile122Val)
|
|
|
|
NM_005881.4(BCKDK):c.375+14G>A
|
|
|
|
NM_005881.4(BCKDK):c.376-13C>T
|
|
|
|
NM_005881.4(BCKDK):c.384A>G (p.Leu128=)
|
|
|
|
NM_005881.4(BCKDK):c.424-18T>C
|
|
|
|
NM_005881.4(BCKDK):c.424-20C>T
|
|
|
|
NM_005881.4(BCKDK):c.500C>A (p.Thr167Asn)
|
rs2057399952
|
|
|
NM_005881.4(BCKDK):c.516C>A (p.Gly172=)
|
|
|
|
NM_005881.4(BCKDK):c.519A>G (p.Leu173=)
|
|
|
|
NM_005881.4(BCKDK):c.544-8C>G
|
rs1337089151
|
|
|
NM_005881.4(BCKDK):c.54G>A (p.Arg18=)
|
|
|
|
NM_005881.4(BCKDK):c.555C>T (p.Leu185=)
|
|
|
|
NM_005881.4(BCKDK):c.561C>T (p.Arg187=)
|
|
|
|
NM_005881.4(BCKDK):c.645T>G (p.Pro215=)
|
|
|
|
NM_005881.4(BCKDK):c.716+18C>T
|
|
|
|
NM_005881.4(BCKDK):c.743A>G (p.Asn248Ser)
|
|
|
|
NM_005881.4(BCKDK):c.78G>C (p.Ala26=)
|
rs527999176
|
|
|
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu)
|
rs2057409516
|
|
|
NM_005881.4(BCKDK):c.846-3T>A
|
rs118042732
|
|
|
NM_005881.4(BCKDK):c.846-3T>C
|
rs118042732
|
|
|
NM_005881.4(BCKDK):c.846-8C>T
|
|
|
|
NM_005881.4(BCKDK):c.936-11C>A
|
|
|
|
NM_005881.4(BCKDK):c.960C>T (p.Ile320=)
|
|
|
|
NM_005881.4(BCKDK):c.972T>C (p.Asp324=)
|
|
|
|
NM_005957.5(MTHFR):c.-13-28_-13-12del
|
|
|
|
NM_005957.5(MTHFR):c.-13-28_-13-27del
|
rs1553188112
|
|
|
NM_005957.5(MTHFR):c.1003C>T (p.Arg335Cys)
|
|
|
|
NM_005957.5(MTHFR):c.1004G>C (p.Arg335Pro)
|
|
|
|
NM_005957.5(MTHFR):c.1008G>A (p.Leu336=)
|
rs2100530121
|
|
|
NM_005957.5(MTHFR):c.1011del (p.Met338fs)
|
rs1380686004
|
|
|
NM_005957.5(MTHFR):c.1015T>G (p.Trp339Gly)
|
rs267606886
|
|
|
NM_005957.5(MTHFR):c.101C>T (p.Thr34Ile)
|
|
|
|
NM_005957.5(MTHFR):c.1023G>A (p.Glu341=)
|
|
|
|
NM_005957.5(MTHFR):c.1026C>T (p.Asp342=)
|
rs763896620
|
|
|
NM_005957.5(MTHFR):c.1029C>T (p.Pro343=)
|
|
|
|
NM_005957.5(MTHFR):c.1031+12G>A
|
|
|
|
NM_005957.5(MTHFR):c.1031+15C>T
|
|
|
|
NM_005957.5(MTHFR):c.1031+20G>A
|
|
|
|
NM_005957.5(MTHFR):c.1031+8C>T
|
|
|
|
NM_005957.5(MTHFR):c.1032-11T>A
|
|
|
|
NM_005957.5(MTHFR):c.1032-12A>T
|
|
|
|
NM_005957.5(MTHFR):c.1032-12_1038del
|
rs2100528352
|
|
|
NM_005957.5(MTHFR):c.1032-14C>T
|
|
|
|
NM_005957.5(MTHFR):c.1032-16C>T
|
|
|
|
NM_005957.5(MTHFR):c.1032-17del
|
|
|
|
NM_005957.5(MTHFR):c.1032-1G>C
|
|
|
|
NM_005957.5(MTHFR):c.1032-20C>T
|
|
|
|
NM_005957.5(MTHFR):c.1032-4C>T
|
rs943653758
|
|
|
NM_005957.5(MTHFR):c.1032-7C>T
|
|
|
|
NM_005957.5(MTHFR):c.1037C>G (p.Pro346Arg)
|
|
|
|
NM_005957.5(MTHFR):c.1038C>T (p.Pro346=)
|
|
|
|
NM_005957.5(MTHFR):c.1047G>A (p.Trp349Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1059C>T (p.Ala353=)
|
rs2100528167
|
|
|
NM_005957.5(MTHFR):c.105G>C (p.Pro35=)
|
|
|
|
NM_005957.5(MTHFR):c.105G>T (p.Pro35=)
|
|
|
|
NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr)
|
rs786204022
|
|
|
NM_005957.5(MTHFR):c.1063_1075del (p.Pro355fs)
|
rs2100527918
|
|
|
NM_005957.5(MTHFR):c.1070G>A (p.Arg357His)
|
rs977038830
|
|
|
NM_005957.5(MTHFR):c.1073G>A (p.Arg358Gln)
|
|
|
|
NM_005957.5(MTHFR):c.1078G>A (p.Glu360Lys)
|
|
|
|
NM_005957.5(MTHFR):c.107G>T (p.Gly36Val)
|
|
|
|
NM_005957.5(MTHFR):c.1083T>C (p.Asp361=)
|
rs1486854528
|
|
|
NM_005957.5(MTHFR):c.1089T>A (p.Arg363=)
|
rs2100527802
|
|
|
NM_005957.5(MTHFR):c.10G>A (p.Glu4Lys)
|
|
|
|
NM_005957.5(MTHFR):c.1108A>C (p.Arg370=)
|
rs2100527712
|
|
|
NM_005957.5(MTHFR):c.1113A>G (p.Pro371=)
|
rs2100527693
|
|
|
NM_005957.5(MTHFR):c.1114_1115del (p.Lys372fs)
|
rs1263501260
|
|
|
NM_005957.5(MTHFR):c.1117A>T (p.Ser373Cys)
|
rs1570474242
|
|
|
NM_005957.5(MTHFR):c.111G>A (p.Leu37=)
|
rs1553188013
|
|
|
NM_005957.5(MTHFR):c.1121dup (p.Tyr374Ter)
|
rs2100527601
|
|
|
NM_005957.5(MTHFR):c.1125C>T (p.Ile375=)
|
|
|
|
NM_005957.5(MTHFR):c.1142G>A (p.Trp381Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1144del (p.Asp382fs)
|
rs747668376
|
|
|
NM_005957.5(MTHFR):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_005957.5(MTHFR):c.1166+12C>T
|
|
|
|
NM_005957.5(MTHFR):c.1166+18T>C
|
|
|
|
NM_005957.5(MTHFR):c.1166+5G>C
|
rs1483632178
|
|
|
NM_005957.5(MTHFR):c.1166+7G>A
|
|
|
|
NM_005957.5(MTHFR):c.1166+8C>T
|
|
|
|
NM_005957.5(MTHFR):c.1166+9C>T
|
|
|
|
NM_005957.5(MTHFR):c.1167-12C>T
|
|
|
|
NM_005957.5(MTHFR):c.1167-14C>A
|
|
|
|
NM_005957.5(MTHFR):c.1167-14C>T
|
|
|
|
NM_005957.5(MTHFR):c.1167-18T>C
|
|
|
|
NM_005957.5(MTHFR):c.1167-7C>T
|
|
|
|
NM_005957.5(MTHFR):c.1167G>A (p.Trp389Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1167G>C (p.Trp389Cys)
|
rs1570473609
|
|
|
NM_005957.5(MTHFR):c.1188C>T (p.Ala396=)
|
rs771601940
|
|
|
NM_005957.5(MTHFR):c.1197G>A (p.Glu399=)
|
rs1367495674
|
|
|
NM_005957.5(MTHFR):c.1204_1206del (p.Asp402del)
|
|
|
|
NM_005957.5(MTHFR):c.120G>A (p.Glu40=)
|
rs1394958095
|
|
|
NM_005957.5(MTHFR):c.121C>A (p.Arg41=)
|
|
|
|
NM_005957.5(MTHFR):c.1221C>T (p.Tyr407=)
|
rs2100525246
|
|
|
NM_005957.5(MTHFR):c.1223T>G (p.Leu408Arg)
|
|
|
|
NM_005957.5(MTHFR):c.1228A>G (p.Ser410Gly)
|
rs2100525175
|
|
|
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del)
|
rs1297161027
|
|
|
NM_005957.5(MTHFR):c.1233G>A (p.Lys411=)
|
|
|
|
NM_005957.5(MTHFR):c.1245G>A (p.Glu415=)
|
|
|
|
NM_005957.5(MTHFR):c.1248G>A (p.Glu416=)
|
rs2100524560
|
|
|
NM_005957.5(MTHFR):c.1252_1275del (p.Leu418_Leu425del)
|
|
|
|
NM_005957.5(MTHFR):c.1252_1275dup (p.Leu418_Leu425dup)
|
rs1334349459
|
|
|
NM_005957.5(MTHFR):c.1262G>A (p.Trp421Ter)
|
rs200137991
|
|
|
NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser)
|
rs200137991
|
|
|
NM_005957.5(MTHFR):c.1266G>A (p.Gly422=)
|
rs2100524088
|
|
|
NM_005957.5(MTHFR):c.1275G>A (p.Leu425=)
|
|
|
|
NM_005957.5(MTHFR):c.1278C>G (p.Thr426=)
|
rs2100523738
|
|
|
NM_005957.5(MTHFR):c.1278C>T (p.Thr426=)
|
|
|
|
NM_005957.5(MTHFR):c.1290T>C (p.Ser430=)
|
|
|
|
NM_005957.5(MTHFR):c.1293C>G (p.Val431=)
|
|
|
|
NM_005957.5(MTHFR):c.1297G>T (p.Glu433Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1305_1306delinsTA (p.Val436Ile)
|
|
|
|
NM_005957.5(MTHFR):c.1310T>A (p.Leu437His)
|
|
|
|
NM_005957.5(MTHFR):c.1320G>T (p.Ser440=)
|
rs367585605
|
|
|
NM_005957.5(MTHFR):c.1329A>C (p.Pro443=)
|
rs2100522480
|
|
|
NM_005957.5(MTHFR):c.1332C>T (p.Asn444=)
|
|
|
|
NM_005957.5(MTHFR):c.1334G>A (p.Arg445Gln)
|
|
|
|
NM_005957.5(MTHFR):c.1335G>C (p.Arg445=)
|
|
|
|
NM_005957.5(MTHFR):c.1337A>G (p.Asn446Ser)
|
|
|
|
NM_005957.5(MTHFR):c.1344C>T (p.His448=)
|
rs745497522
|
|
|
NM_005957.5(MTHFR):c.1347+14_1347+80del
|
|
|
|
NM_005957.5(MTHFR):c.1347+16G>T
|
|
|
|
NM_005957.5(MTHFR):c.1347+1G>A
|
|
|
|
NM_005957.5(MTHFR):c.1347+9T>C
|
|
|
|
NM_005957.5(MTHFR):c.1348-12C>T
|
|
|
|
NM_005957.5(MTHFR):c.1348-15C>G
|
|
|
|
NM_005957.5(MTHFR):c.1348-15C>T
|
|
|
|
NM_005957.5(MTHFR):c.1348-17C>T
|
|
|
|
NM_005957.5(MTHFR):c.1348-4C>G
|
rs2100519965
|
|
|
NM_005957.5(MTHFR):c.1348-5C>T
|
rs1644192802
|
|
|
NM_005957.5(MTHFR):c.1357C>T (p.Leu453=)
|
|
|
|
NM_005957.5(MTHFR):c.1362C>G (p.Pro454=)
|
rs1570472454
|
|
|
NM_005957.5(MTHFR):c.136C>A (p.Arg46=)
|
rs138189536
|
|
|
NM_005957.5(MTHFR):c.136del (p.Arg46fs)
|
|
|
|
NM_005957.5(MTHFR):c.1374G>A (p.Glu458=)
|
|
|
|
NM_005957.5(MTHFR):c.1378del (p.Leu460fs)
|
|
|
|
NM_005957.5(MTHFR):c.1380G>A (p.Leu460=)
|
|
|
|
NM_005957.5(MTHFR):c.1386T>A (p.Ala462=)
|
|
|
|
NM_005957.5(MTHFR):c.138G>A (p.Arg46=)
|
|
|
|
NM_005957.5(MTHFR):c.1407G>C (p.Glu469Asp)
|
rs2100519489
|
|
|
NM_005957.5(MTHFR):c.1408G>T (p.Glu470Ter)
|
rs139645527
|
|
|
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu)
|
rs886043349
|
|
|
NM_005957.5(MTHFR):c.1416G>T (p.Leu472=)
|
rs2100519362
|
|
|
NM_005957.5(MTHFR):c.1417C>T (p.Arg473Trp)
|
|
|
|
NM_005957.5(MTHFR):c.1418G>A (p.Arg473Gln)
|
|
|
|
NM_005957.5(MTHFR):c.1425C>T (p.Asn475=)
|
|
|
|
NM_005957.5(MTHFR):c.1428C>T (p.Arg476=)
|
|
|
|
NM_005957.5(MTHFR):c.1440C>T (p.Leu480=)
|
rs1644188527
|
|
|
NM_005957.5(MTHFR):c.1455G>A (p.Gln485=)
|
rs545002537
|
|
|
NM_005957.5(MTHFR):c.1458C>T (p.Pro486=)
|
rs2100518947
|
|
|
NM_005957.5(MTHFR):c.145A>G (p.Met49Val)
|
rs1570498105
|
|
|
NM_005957.5(MTHFR):c.1470G>A (p.Gly490=)
|
rs2100518831
|
|
|
NM_005957.5(MTHFR):c.1475C>T (p.Pro492Leu)
|
|
|
|
NM_005957.5(MTHFR):c.1479C>G (p.Ser493=)
|
|
|
|
NM_005957.5(MTHFR):c.1485C>T (p.Asp495=)
|
|
|
|
NM_005957.5(MTHFR):c.1502del (p.Gly501fs)
|
|
|
|
NM_005957.5(MTHFR):c.1503C>A (p.Gly501=)
|
|
|
|
NM_005957.5(MTHFR):c.1509C>T (p.Ser503=)
|
|
|
|
NM_005957.5(MTHFR):c.1514G>C (p.Gly505Ala)
|
|
|
|
NM_005957.5(MTHFR):c.1515C>T (p.Gly505=)
|
rs376927238
|
|
|
NM_005957.5(MTHFR):c.1518T>C (p.Tyr506=)
|
rs2100518329
|
|
|
NM_005957.5(MTHFR):c.1528A>G (p.Lys510Glu)
|
rs1425929014
|
|
|
NM_005957.5(MTHFR):c.1529A>C (p.Lys510Thr)
|
rs753049408
|
|
|
NM_005957.5(MTHFR):c.1530+14G>A
|
|
|
|
NM_005957.5(MTHFR):c.1530+17C>T
|
|
|
|
NM_005957.5(MTHFR):c.1530+18G>A
|
|
|
|
NM_005957.5(MTHFR):c.1530+19G>A
|
|
|
|
NM_005957.5(MTHFR):c.1530+1G>A
|
|
|
|
NM_005957.5(MTHFR):c.1530+1G>T
|
|
|
|
NM_005957.5(MTHFR):c.1530+6G>A
|
|
|
|
NM_005957.5(MTHFR):c.1530+7T>C
|
|
|
|
NM_005957.5(MTHFR):c.1530+8A>G
|
rs772858015
|
|
|
NM_005957.5(MTHFR):c.1530+8A>T
|
rs772858015
|
|
|
NM_005957.5(MTHFR):c.1530G>A (p.Lys510=)
|
rs765586205
|
|
|
NM_005957.5(MTHFR):c.1531-11C>G
|
|
|
|
NM_005957.5(MTHFR):c.1531-12T>A
|
|
|
|
NM_005957.5(MTHFR):c.1531-16C>G
|
|
|
|
NM_005957.5(MTHFR):c.1531-19G>A
|
|
|
|
NM_005957.5(MTHFR):c.1531-1G>C
|
|
|
|
NM_005957.5(MTHFR):c.1531-7C>T
|
rs777858766
|
|
|
NM_005957.5(MTHFR):c.1531-8T>C
|
rs2100507748
|
|
|
NM_005957.5(MTHFR):c.1533C>G (p.Ala511=)
|
|
|
|
NM_005957.5(MTHFR):c.1536C>T (p.Tyr512=)
|
|
|
|
NM_005957.5(MTHFR):c.1539dup (p.Glu514fs)
|
|
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
|
NM_005957.5(MTHFR):c.1542G>A (p.Glu514=)
|
|
|
|
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter)
|
rs986604359
|
|
|
NM_005957.5(MTHFR):c.1552del (p.Ser518fs)
|
rs2100507511
|
|
|
NM_005957.5(MTHFR):c.1556G>A (p.Arg519His)
|
|
|
|
NM_005957.5(MTHFR):c.1557C>A (p.Arg519=)
|
rs780544969
|
|
|
NM_005957.5(MTHFR):c.1557C>T (p.Arg519=)
|
rs780544969
|
|
|
NM_005957.5(MTHFR):c.1563A>G (p.Thr521=)
|
rs2100507296
|
|
|
NM_005957.5(MTHFR):c.1571C>G (p.Ala524Gly)
|
rs774934088
|
|
|
NM_005957.5(MTHFR):c.1575T>G (p.Leu525=)
|
|
|
|
NM_005957.5(MTHFR):c.1578G>A (p.Leu526=)
|
|
|
|
NM_005957.5(MTHFR):c.1584G>A (p.Val528=)
|
|
|
|
NM_005957.5(MTHFR):c.1593G>A (p.Lys531=)
|
rs113615972
|
|
|
NM_005957.5(MTHFR):c.1603C>T (p.Arg535Trp)
|
|
|
|
NM_005957.5(MTHFR):c.1605G>A (p.Arg535=)
|
|
|
|
NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe)
|
rs786204028
|
|
|
NM_005957.5(MTHFR):c.1611T>C (p.Asn537=)
|
rs796064511
|
|
|
NM_005957.5(MTHFR):c.162A>G (p.Glu54=)
|
rs753692902
|
|
|
NM_005957.5(MTHFR):c.162A>T (p.Glu54Asp)
|
rs753692902
|
|
|
NM_005957.5(MTHFR):c.1632+10G>T
|
|
|
|
NM_005957.5(MTHFR):c.1632+11C>T
|
|
|
|
NM_005957.5(MTHFR):c.1632+13C>T
|
|
|
|
NM_005957.5(MTHFR):c.1632+14del
|
|
|
|
NM_005957.5(MTHFR):c.1632+15A>G
|
|
|
|
NM_005957.5(MTHFR):c.1632+35G>C
|
|
|
|
NM_005957.5(MTHFR):c.1632+9G>C
|
|
|
|
NM_005957.5(MTHFR):c.1633-10A>C
|
|
|
|
NM_005957.5(MTHFR):c.1633-15_1633-14delinsTT
|
|
|
|
NM_005957.5(MTHFR):c.1633-18C>A
|
|
|
|
NM_005957.5(MTHFR):c.1633-18del
|
|
|
|
NM_005957.5(MTHFR):c.1633-18dup
|
rs759960805
|
|
|
NM_005957.5(MTHFR):c.1633-20C>A
|
|
|
|
NM_005957.5(MTHFR):c.1633-5C>T
|
|
|
|
NM_005957.5(MTHFR):c.1633-5dup
|
|
|
|
NM_005957.5(MTHFR):c.1633-7C>A
|
|
|
|
NM_005957.5(MTHFR):c.1633-7C>T
|
rs776084278
|
|
|
NM_005957.5(MTHFR):c.1646_1648del (p.Thr549del)
|
|
|
|
NM_005957.5(MTHFR):c.1650T>C (p.Asn550=)
|
rs2100499565
|
|
|
NM_005957.5(MTHFR):c.1668G>T (p.Pro556=)
|
rs778486116
|
|
|
NM_005957.5(MTHFR):c.1674T>C (p.Ala558=)
|
rs933241629
|
|
|
NM_005957.5(MTHFR):c.1677C>T (p.Val559=)
|
rs754425084
|
|
|
NM_005957.5(MTHFR):c.1680T>C (p.Thr560=)
|
rs1644095203
|
|
|
NM_005957.5(MTHFR):c.1682G>A (p.Trp561Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1686C>T (p.Gly562=)
|
|
|
|
NM_005957.5(MTHFR):c.168T>C (p.Gly56=)
|
|
|
|
NM_005957.5(MTHFR):c.1690T>C (p.Phe564Leu)
|
|
|
|
NM_005957.5(MTHFR):c.1698G>A (p.Gly566=)
|
rs2100499222
|
|
|
NM_005957.5(MTHFR):c.16del (p.Arg6fs)
|
|
|
|
NM_005957.5(MTHFR):c.1700G>A (p.Arg567Gln)
|
|
|
|
NM_005957.5(MTHFR):c.1701A>G (p.Arg567=)
|
|
|
|
NM_005957.5(MTHFR):c.1704G>A (p.Glu568=)
|
rs1644094379
|
|
|
NM_005957.5(MTHFR):c.1711C>T (p.Gln571Ter)
|
|
|
|
NM_005957.5(MTHFR):c.1712del (p.Gln571fs)
|
rs2100499107
|
|
|
NM_005957.5(MTHFR):c.1715C>T (p.Pro572Leu)
|
|
|
|
NM_005957.5(MTHFR):c.171C>T (p.Asp57=)
|
rs1570497974
|
|
|
NM_005957.5(MTHFR):c.1722A>G (p.Val574=)
|
rs936532190
|
|
|
NM_005957.5(MTHFR):c.1737C>T (p.Ser579=)
|
|
|
|
NM_005957.5(MTHFR):c.1749_1752+7del
|
|
|
|
NM_005957.5(MTHFR):c.1750A>T (p.Lys584Ter)
|
rs1644092513
|
|
|
NM_005957.5(MTHFR):c.1752+12G>T
|
|
|
|
NM_005957.5(MTHFR):c.1752+16G>C
|
|
|
|
NM_005957.5(MTHFR):c.1752+16del
|
|
|
|
NM_005957.5(MTHFR):c.1752+1G>T
|
rs747846362
|
|
|
NM_005957.5(MTHFR):c.1753-10GT[6]
|
|
|
|
NM_005957.5(MTHFR):c.1753-12_1753-9dup
|
rs1644075708
|
|
|
NM_005957.5(MTHFR):c.1753-13T>C
|
|
|
|
NM_005957.5(MTHFR):c.1753-14G>A
|
|
|
|
NM_005957.5(MTHFR):c.1753-14dup
|
rs758514539
|
|
|
NM_005957.5(MTHFR):c.1753-15G>C
|
|
|
|
NM_005957.5(MTHFR):c.1753-16G>A
|
|
|
|
NM_005957.5(MTHFR):c.1753-18G>T
|
|
|
|
NM_005957.5(MTHFR):c.1753-19C>T
|
|
|
|
NM_005957.5(MTHFR):c.1753-20G>T
|
|
|
|
NM_005957.5(MTHFR):c.1753-22_1753-3del
|
rs752911686
|
|
|
NM_005957.5(MTHFR):c.1753-25TG[2]
|
rs751611452
|
|
|
NM_005957.5(MTHFR):c.1753-34_1753-19del
|
|
|
|
NM_005957.5(MTHFR):c.1753-34_1753-19dup
|
|
|
|
NM_005957.5(MTHFR):c.1753-37_1753-20dup
|
|
|
|
NM_005957.5(MTHFR):c.1753-3T>G
|
|
|
|
NM_005957.5(MTHFR):c.1753-4G>A
|
|
|
|
NM_005957.5(MTHFR):c.1753-4G>T
|
rs543808715
|
|
|
NM_005957.5(MTHFR):c.1753-8G>C
|
|
|
|
NM_005957.5(MTHFR):c.1767C>T (p.Ala589=)
|
|
|
|
NM_005957.5(MTHFR):c.1768del (p.Leu590fs)
|
rs2100495241
|
|
|
NM_005957.5(MTHFR):c.177G>A (p.Trp59Ter)
|
rs767789270
|
|
|
NM_005957.5(MTHFR):c.1780C>T (p.Arg594Trp)
|
|
|
|
NM_005957.5(MTHFR):c.1788A>G (p.Gly596=)
|
rs776182425
|
|
|
NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro)
|
rs786204034
|
|
|
NM_005957.5(MTHFR):c.1798GAG[2] (p.Glu602del)
|
|
|
|
NM_005957.5(MTHFR):c.17G>A (p.Arg6Lys)
|
|
|
|
NM_005957.5(MTHFR):c.1803G>A (p.Glu601=)
|
|
|
|
NM_005957.5(MTHFR):c.1804_1805inv (p.Glu602Ser)
|
|
|
|
NM_005957.5(MTHFR):c.1806G>A (p.Glu602=)
|
rs2100494839
|
|
|
NM_005957.5(MTHFR):c.1815C>T (p.Ser605=)
|
rs1293653587
|
|
|
NM_005957.5(MTHFR):c.1816C>T (p.Arg606Cys)
|
|
|
|
NM_005957.5(MTHFR):c.1817G>A (p.Arg606His)
|
|
|
|
NM_005957.5(MTHFR):c.1830G>A (p.Gln610=)
|
|
|
|
NM_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys)
|
rs756615138
|
|
|
NM_005957.5(MTHFR):c.1833C>T (p.Tyr611=)
|
|
|
|
NM_005957.5(MTHFR):c.1836C>T (p.Ile612=)
|
rs2100494373
|
|
|
NM_005957.5(MTHFR):c.183C>G (p.Ser61=)
|
rs2100577499
|
|
|
NM_005957.5(MTHFR):c.1840G>A (p.Asp614Asn)
|
rs879406669
|
|
|
NM_005957.5(MTHFR):c.1845C>T (p.Asn615=)
|
|
|
|
NM_005957.5(MTHFR):c.1852del (p.Leu618fs)
|
rs2100494177
|
|
|
NM_005957.5(MTHFR):c.1863G>C (p.Leu621=)
|
rs2100494045
|
|
|
NM_005957.5(MTHFR):c.1866G>A (p.Val622=)
|
|
|
|
NM_005957.5(MTHFR):c.1875C>T (p.Asp625=)
|
rs2100493955
|
|
|
NM_005957.5(MTHFR):c.1878C>T (p.Phe626=)
|
|
|
|
NM_005957.5(MTHFR):c.1886A>G (p.Asp629Gly)
|
|
|
|
NM_005957.5(MTHFR):c.1896C>T (p.Leu632=)
|
rs1360182594
|
|
|
NM_005957.5(MTHFR):c.1902G>A (p.Gln634=)
|
rs2100493744
|
|
|
NM_005957.5(MTHFR):c.1905G>A (p.Val635=)
|
rs1383645963
|
|
|
NM_005957.5(MTHFR):c.1918T>C (p.Leu640=)
|
rs558230616
|
|
|
NM_005957.5(MTHFR):c.191del (p.Phe64fs)
|
rs2100577466
|
|
|
NM_005957.5(MTHFR):c.1934G>A (p.Arg645Lys)
|
|
|
|
NM_005957.5(MTHFR):c.1944G>A (p.Gln648=)
|
|
|
|
NM_005957.5(MTHFR):c.1945A>G (p.Asn649Asp)
|
|
|
|
NM_005957.5(MTHFR):c.1947T>C (p.Asn649=)
|
rs2100493398
|
|
|
NM_005957.5(MTHFR):c.1947T>G (p.Asn649Lys)
|
|
|
|
NM_005957.5(MTHFR):c.1950G>A (p.Ala650=)
|
rs1300052327
|
|
|
NM_005957.5(MTHFR):c.1952G>A (p.Arg651Lys)
|
|
|
|
NM_005957.5(MTHFR):c.1953A>G (p.Arg651=)
|
rs2100493280
|
|
|
NM_005957.5(MTHFR):c.1970G>A (p.Ter657=)
|
rs749490263
|
|
|
NM_005957.5(MTHFR):c.1A>G (p.Met1Val)
|
rs776734688
|
|
|
NM_005957.5(MTHFR):c.202C>T (p.Arg68Ter)
|
rs763539350
|
|
|
NM_005957.5(MTHFR):c.225T>C (p.Asn75=)
|
rs2100577290
|
|
|
NM_005957.5(MTHFR):c.228C>T (p.Leu76=)
|
rs2100577261
|
|
|
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)
|
rs776969786
|
|
|
NM_005957.5(MTHFR):c.234A>G (p.Ser78=)
|
rs771782125
|
|
|
NM_005957.5(MTHFR):c.236+10T>C
|
|
|
|
NM_005957.5(MTHFR):c.236+13A>G
|
|
|
|
NM_005957.5(MTHFR):c.236+15G>A
|
rs2100577025
|
|
|
NM_005957.5(MTHFR):c.236+20A>T
|
|
|
|
NM_005957.5(MTHFR):c.236+7T>A
|
|
|
|
NM_005957.5(MTHFR):c.236+9A>C
|
rs1253089753
|
|
|
NM_005957.5(MTHFR):c.236+9A>T
|
rs1253089753
|
|
|
NM_005957.5(MTHFR):c.237-10C>A
|
|
|
|
NM_005957.5(MTHFR):c.237-15A>G
|
|
|
|
NM_005957.5(MTHFR):c.237-1G>T
|
|
|
|
NM_005957.5(MTHFR):c.237-20C>T
|
|
|
|
NM_005957.5(MTHFR):c.237-2A>C
|
rs1644381879
|
|
|
NM_005957.5(MTHFR):c.237-2A>G
|
|
|
|
NM_005957.5(MTHFR):c.237-4A>G
|
rs1372519713
|
|
|
NM_005957.5(MTHFR):c.237-8C>T
|
|
|
|
NM_005957.5(MTHFR):c.240T>G (p.Phe80Leu)
|
rs541505625
|
|
|
NM_005957.5(MTHFR):c.243C>T (p.Asp81=)
|
|
|
|
NM_005957.5(MTHFR):c.245G>A (p.Arg82Gln)
|
|
|
|
NM_005957.5(MTHFR):c.260G>A (p.Gly87Asp)
|
|
|
|
NM_005957.5(MTHFR):c.261C>T (p.Gly87=)
|
|
|
|
NM_005957.5(MTHFR):c.264C>T (p.Pro88=)
|
rs1311706078
|
|
|
NM_005957.5(MTHFR):c.265C>G (p.Leu89Val)
|
rs1042792109
|
|
|
NM_005957.5(MTHFR):c.271A>G (p.Ile91Val)
|
|
|
|
NM_005957.5(MTHFR):c.273A>C (p.Ile91=)
|
|
|
|
NM_005957.5(MTHFR):c.273dup (p.Asp92fs)
|
rs2100568604
|
|
|
NM_005957.5(MTHFR):c.288C>T (p.His96=)
|
rs748688171
|
|
|
NM_005957.5(MTHFR):c.29G>C (p.Ser10Thr)
|
|
|
|
NM_005957.5(MTHFR):c.2T>A (p.Met1Lys)
|
|
|
|
NM_005957.5(MTHFR):c.2T>C (p.Met1Thr)
|
|
|
|
NM_005957.5(MTHFR):c.315G>A (p.Lys105=)
|
rs2100568147
|
|
|
NM_005957.5(MTHFR):c.318G>A (p.Glu106=)
|
rs2100568106
|
|
|
NM_005957.5(MTHFR):c.324C>A (p.Ser108=)
|
|
|
|
NM_005957.5(MTHFR):c.334A>G (p.Ile112Val)
|
rs1421914910
|
|
|
NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr)
|
rs147257424
|
|
|
NM_005957.5(MTHFR):c.339C>G (p.Ala113=)
|
|
|
|
NM_005957.5(MTHFR):c.339C>T (p.Ala113=)
|
|
|
|
NM_005957.5(MTHFR):c.345C>A (p.Thr115=)
|
rs2066461
|
|
|
NM_005957.5(MTHFR):c.345C>T (p.Thr115=)
|
rs2066461
|
|
|
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr)
|
rs1056919085
|
|
|
NM_005957.5(MTHFR):c.348C>G (p.Ala116=)
|
|
|
|
NM_005957.5(MTHFR):c.354C>T (p.Asn118=)
|
|
|
|
NM_005957.5(MTHFR):c.357C>T (p.Tyr119=)
|
|
|
|
NM_005957.5(MTHFR):c.36C>A (p.Asn12Lys)
|
|
|
|
NM_005957.5(MTHFR):c.36C>T (p.Asn12=)
|
rs1046343781
|
|
|
NM_005957.5(MTHFR):c.387C>T (p.Thr129=)
|
|
|
|
NM_005957.5(MTHFR):c.390C>T (p.Cys130=)
|
rs1185978577
|
|
|
NM_005957.5(MTHFR):c.394C>T (p.Arg132Cys)
|
|
|
|
NM_005957.5(MTHFR):c.395G>A (p.Arg132His)
|
|
|
|
NM_005957.5(MTHFR):c.401G>A (p.Arg134His)
|
|
|
|
NM_005957.5(MTHFR):c.402C>A (p.Arg134=)
|
rs2100567232
|
|
|
NM_005957.5(MTHFR):c.408G>A (p.Glu136=)
|
|
|
|
NM_005957.5(MTHFR):c.417G>C (p.Thr139=)
|
rs2066466
|
|
|
NM_005957.5(MTHFR):c.417G>T (p.Thr139=)
|
rs2066466
|
|
|
NM_005957.5(MTHFR):c.421C>G (p.His141Asp)
|
|
|
|
NM_005957.5(MTHFR):c.426G>T (p.Leu142=)
|
rs1553187352
|
|
|
NM_005957.5(MTHFR):c.42C>T (p.Cys14=)
|
|
|
|
NM_005957.5(MTHFR):c.43T>C (p.Leu15=)
|
rs2100578574
|
|
|
NM_005957.5(MTHFR):c.444G>T (p.Leu148=)
|
rs1644375978
|
|
|
NM_005957.5(MTHFR):c.446_447delinsTT (p.Gly149Val)
|
rs1644375837
|
|
|
NM_005957.5(MTHFR):c.447C>T (p.Gly149=)
|
|
|
|
NM_005957.5(MTHFR):c.448C>T (p.Leu150=)
|
rs2100566876
|
|
|
NM_005957.5(MTHFR):c.451A>T (p.Lys151Ter)
|
rs2100566841
|
|
|
NM_005957.5(MTHFR):c.456C>T (p.Asn152=)
|
rs2100566808
|
|
|
NM_005957.5(MTHFR):c.465G>A (p.Ala155=)
|
rs566125423
|
|
|
NM_005957.5(MTHFR):c.465G>T (p.Ala155=)
|
rs566125423
|
|
|
NM_005957.5(MTHFR):c.469C>A (p.Arg157=)
|
rs776195746
|
|
|
NM_005957.5(MTHFR):c.474A>T (p.Gly158=)
|
rs199476142
|
|
|
NM_005957.5(MTHFR):c.475+10C>T
|
|
|
|
NM_005957.5(MTHFR):c.475+17C>A
|
|
|
|
NM_005957.5(MTHFR):c.475+1G>A
|
rs748397580
|
|
|
NM_005957.5(MTHFR):c.475+1G>T
|
rs748397580
|
|
|
NM_005957.5(MTHFR):c.475+4T>C
|
|
|
|
NM_005957.5(MTHFR):c.475+8G>A
|
|
|
|
NM_005957.5(MTHFR):c.476-13A>G
|
|
|
|
NM_005957.5(MTHFR):c.476-1G>A
|
rs2100562061
|
|
|
NM_005957.5(MTHFR):c.476-6C>T
|
rs1219357233
|
|
|
NM_005957.5(MTHFR):c.476-8C>T
|
rs1282906772
|
|
|
NM_005957.5(MTHFR):c.476-9A>G
|
rs2100562141
|
|
|
NM_005957.5(MTHFR):c.48G>A (p.Glu16=)
|
|
|
|
NM_005957.5(MTHFR):c.495G>A (p.Trp165Ter)
|
rs774118546
|
|
|
NM_005957.5(MTHFR):c.4G>A (p.Val2Met)
|
|
|
|
NM_005957.5(MTHFR):c.507G>A (p.Glu169=)
|
|
|
|
NM_005957.5(MTHFR):c.516C>T (p.Phe172=)
|
|
|
|
NM_005957.5(MTHFR):c.519C>T (p.Asn173=)
|
|
|
|
NM_005957.5(MTHFR):c.523G>A (p.Ala175Thr)
|
rs1182635980
|
|
|
NM_005957.5(MTHFR):c.524C>A (p.Ala175Glu)
|
|
|
|
NM_005957.5(MTHFR):c.531C>T (p.Asp177=)
|
rs2100561654
|
|
|
NM_005957.5(MTHFR):c.547C>T (p.Arg183Ter)
|
rs121434294
|
|
|
NM_005957.5(MTHFR):c.571G>A (p.Asp191Asn)
|
|
|
|
NM_005957.5(MTHFR):c.576C>A (p.Ile192=)
|
|
|
|
NM_005957.5(MTHFR):c.57C>A (p.Ala19=)
|
rs2100578481
|
|
|
NM_005957.5(MTHFR):c.584C>T (p.Ala195Val)
|
rs760161369
|
|
|
NM_005957.5(MTHFR):c.586+11G>A
|
|
|
|
NM_005957.5(MTHFR):c.586+15C>T
|
|
|
|
NM_005957.5(MTHFR):c.586+18C>G
|
|
|
|
NM_005957.5(MTHFR):c.586+20T>C
|
|
|
|
NM_005957.5(MTHFR):c.587-11C>G
|
|
|
|
NM_005957.5(MTHFR):c.587-11C>T
|
|
|
|
NM_005957.5(MTHFR):c.587-12C>A
|
|
|
|
NM_005957.5(MTHFR):c.587-12C>T
|
|
|
|
NM_005957.5(MTHFR):c.587-14A>G
|
|
|
|
NM_005957.5(MTHFR):c.587-15C>T
|
|
|
|
NM_005957.5(MTHFR):c.587-19C>T
|
|
|
|
NM_005957.5(MTHFR):c.587-4G>A
|
|
|
|
NM_005957.5(MTHFR):c.587-7T>C
|
rs775136816
|
|
|
NM_005957.5(MTHFR):c.587-8A>C
|
|
|
|
NM_005957.5(MTHFR):c.587-9T>C
|
|
|
|
NM_005957.5(MTHFR):c.589T>G (p.Tyr197Asp)
|
rs776901659
|
|
|
NM_005957.5(MTHFR):c.58A>G (p.Ser20Gly)
|
|
|
|
NM_005957.5(MTHFR):c.594C>G (p.Pro198=)
|
rs2100541366
|
|
|
NM_005957.5(MTHFR):c.603C>T (p.His201=)
|
rs964885613
|
|
|
NM_005957.5(MTHFR):c.606C>G (p.Pro202=)
|
rs13306554
|
|
|
NM_005957.5(MTHFR):c.60C>T (p.Ser20=)
|
|
|
|
NM_005957.5(MTHFR):c.615G>A (p.Gly205=)
|
rs779138021
|
|
|
NM_005957.5(MTHFR):c.621T>C (p.Phe207=)
|
|
|
|
NM_005957.5(MTHFR):c.624G>A (p.Glu208=)
|
rs2100540661
|
|
|
NM_005957.5(MTHFR):c.62G>A (p.Ser21Asn)
|
|
|
|
NM_005957.5(MTHFR):c.638A>G (p.His213Arg)
|
|
|
|
NM_005957.5(MTHFR):c.643_645del (p.Lys215del)
|
rs746353274
|
|
|
NM_005957.5(MTHFR):c.651G>A (p.Lys217=)
|
rs1644255213
|
|
|
NM_005957.5(MTHFR):c.652G>T (p.Val218Leu)
|
rs1644255161
|
|
|
NM_005957.5(MTHFR):c.657T>G (p.Ser219=)
|
rs2100539860
|
|
|
NM_005957.5(MTHFR):c.659C>T (p.Ala220Val)
|
|
|
|
NM_005957.5(MTHFR):c.665_666delinsTT (p.Ala222Val)
|
|
|
|
NM_005957.5(MTHFR):c.675C>T (p.Ile225=)
|
rs1644254284
|
|
|
NM_005957.5(MTHFR):c.676A>G (p.Ile226Val)
|
rs773410203
|
|
|
NM_005957.5(MTHFR):c.678C>A (p.Ile226=)
|
|
|
|
NM_005957.5(MTHFR):c.681G>C (p.Thr227=)
|
rs774825800
|
|
|
NM_005957.5(MTHFR):c.687T>C (p.Leu229=)
|
|
|
|
NM_005957.5(MTHFR):c.690C>T (p.Phe230=)
|
rs2100539064
|
|
|
NM_005957.5(MTHFR):c.699T>C (p.Ala233=)
|
|
|
|
NM_005957.5(MTHFR):c.707T>C (p.Phe236Ser)
|
|
|
|
NM_005957.5(MTHFR):c.712C>T (p.Arg238Cys)
|
|
|
|
NM_005957.5(MTHFR):c.712del (p.Arg238fs)
|
|
|
|
NM_005957.5(MTHFR):c.714C>G (p.Arg238=)
|
|
|
|
NM_005957.5(MTHFR):c.717T>C (p.Phe239=)
|
|
|
|
NM_005957.5(MTHFR):c.725C>G (p.Ala242Gly)
|
|
|
|
NM_005957.5(MTHFR):c.733G>A (p.Asp245Asn)
|
|
|
|
NM_005957.5(MTHFR):c.737T>C (p.Met246Thr)
|
|
|
|
NM_005957.5(MTHFR):c.755T>A (p.Ile252Asn)
|
rs2100537636
|
|
|
NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser)
|
rs786204017
|
|
|
NM_005957.5(MTHFR):c.774C>T (p.Pro258=)
|
rs777367515
|
|
|
NM_005957.5(MTHFR):c.778C>T (p.Gln260Ter)
|
|
|
|
NM_005957.5(MTHFR):c.780+11C>T
|
|
|
|
NM_005957.5(MTHFR):c.780+13G>A
|
|
|
|
NM_005957.5(MTHFR):c.780+16G>A
|
|
|
|
NM_005957.5(MTHFR):c.780+18G>T
|
|
|
|
NM_005957.5(MTHFR):c.780+1G>A
|
|
|
|
NM_005957.5(MTHFR):c.780+3G>A
|
|
|
|
NM_005957.5(MTHFR):c.780+8G>A
|
rs771375720
|
|
|
NM_005957.5(MTHFR):c.781-10dup
|
rs2100532208
|
|
|
NM_005957.5(MTHFR):c.781-13A>G
|
|
|
|
NM_005957.5(MTHFR):c.781-13A>T
|
|
|
|
NM_005957.5(MTHFR):c.781-14C>T
|
|
|
|
NM_005957.5(MTHFR):c.781-16C>G
|
|
|
|
NM_005957.5(MTHFR):c.781-1G>A
|
|
|
|
NM_005957.5(MTHFR):c.781-5G>A
|
rs2100532176
|
|
|
NM_005957.5(MTHFR):c.782G>T (p.Gly261Val)
|
rs747665983
|
|
|
NM_005957.5(MTHFR):c.786C>T (p.Tyr262=)
|
rs1644229819
|
|
|
NM_005957.5(MTHFR):c.78C>T (p.Ser26=)
|
|
|
|
NM_005957.5(MTHFR):c.790del (p.Ser264fs)
|
|
|
|
NM_005957.5(MTHFR):c.804T>C (p.Leu268=)
|
|
|
|
NM_005957.5(MTHFR):c.810G>A (p.Lys270=)
|
rs755932312
|
|
|
NM_005957.5(MTHFR):c.828G>A (p.Val276=)
|
rs2100531623
|
|
|
NM_005957.5(MTHFR):c.831A>G (p.Pro277=)
|
|
|
|
NM_005957.5(MTHFR):c.835G>T (p.Glu279Ter)
|
|
|
|
NM_005957.5(MTHFR):c.840C>T (p.Ile280=)
|
|
|
|
NM_005957.5(MTHFR):c.843G>A (p.Lys281=)
|
rs2100531529
|
|
|
NM_005957.5(MTHFR):c.849G>A (p.Val283=)
|
|
|
|
NM_005957.5(MTHFR):c.84T>C (p.Asp28=)
|
|
|
|
NM_005957.5(MTHFR):c.860_863del (p.Ile287fs)
|
rs1644227167
|
|
|
NM_005957.5(MTHFR):c.863_864del (p.Lys288fs)
|
rs1644227125
|
|
|
NM_005957.5(MTHFR):c.867_868insG (p.Asn290fs)
|
rs1644227005
|
|
|
NM_005957.5(MTHFR):c.872_875dup (p.Ala293fs)
|
|
|
|
NM_005957.5(MTHFR):c.87T>C (p.Ser29=)
|
rs2100578276
|
|
|
NM_005957.5(MTHFR):c.891T>C (p.Tyr297=)
|
rs367992906
|
|
|
NM_005957.5(MTHFR):c.892G>A (p.Gly298Ser)
|
|
|
|
NM_005957.5(MTHFR):c.897C>T (p.Ile299=)
|
|
|
|
NM_005957.5(MTHFR):c.905C>G (p.Ala302Gly)
|
|
|
|
NM_005957.5(MTHFR):c.906C>T (p.Ala302=)
|
rs13306555
|
|
|
NM_005957.5(MTHFR):c.906del (p.Ala302_Val303insTer)
|
|
|
|
NM_005957.5(MTHFR):c.909G>A (p.Val303=)
|
rs1570475497
|
|
|
NM_005957.5(MTHFR):c.913C>T (p.Leu305=)
|
rs2100530817
|
|
|
NM_005957.5(MTHFR):c.915G>C (p.Leu305=)
|
rs1308637124
|
|
|
NM_005957.5(MTHFR):c.915G>T (p.Leu305=)
|
|
|
|
NM_005957.5(MTHFR):c.927T>C (p.Leu309=)
|
|
|
|
NM_005957.5(MTHFR):c.932C>A (p.Ala311Asp)
|
|
|
|
NM_005957.5(MTHFR):c.934del (p.Ser312fs)
|
|
|
|
NM_005957.5(MTHFR):c.945G>A (p.Val315=)
|
|
|
|
NM_005957.5(MTHFR):c.947C>T (p.Pro316Leu)
|
|
|
|
NM_005957.5(MTHFR):c.954C>T (p.Leu318=)
|
rs1335006530
|
|
|
NM_005957.5(MTHFR):c.963C>A (p.Tyr321Ter)
|
|
|
|
NM_005957.5(MTHFR):c.969C>G (p.Leu323=)
|
|
|
|
NM_005957.5(MTHFR):c.972C>T (p.Asn324=)
|
|
|
|
NM_005957.5(MTHFR):c.975C>T (p.Arg325=)
|
|
|
|
NM_005957.5(MTHFR):c.998T>A (p.Leu333Gln)
|
|
|
|
NM_006623.4(PHGDH):c.1003C>T (p.Leu335=)
|
rs2101216283
|
|
|
NM_006623.4(PHGDH):c.1007C>T (p.Ala336Val)
|
rs760161275
|
|
|
NM_006623.4(PHGDH):c.102G>A (p.Gln34=)
|
|
|
|
NM_006623.4(PHGDH):c.1031G>A (p.Arg344Gln)
|
|
|
|
NM_006623.4(PHGDH):c.1034C>T (p.Ala345Val)
|
|
|
|
NM_006623.4(PHGDH):c.1035C>A (p.Ala345=)
|
rs1477345994
|
|
|
NM_006623.4(PHGDH):c.1035C>T (p.Ala345=)
|
rs1477345994
|
|
|
NM_006623.4(PHGDH):c.1047C>G (p.Ser349=)
|
|
|
|
NM_006623.4(PHGDH):c.1047C>T (p.Ser349=)
|
|
|
|
NM_006623.4(PHGDH):c.1051A>G (p.Lys351Glu)
|
rs1303930828
|
|
|
NM_006623.4(PHGDH):c.105C>T (p.Asn35=)
|
|
|
|
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter)
|
rs979237677
|
|
|
NM_006623.4(PHGDH):c.1069A>G (p.Ile357Val)
|
|
|
|
NM_006623.4(PHGDH):c.1075C>T (p.Gln359Ter)
|
rs1652150288
|
|
|
NM_006623.4(PHGDH):c.1078+10G>A
|
|
|
|
NM_006623.4(PHGDH):c.1078+10G>T
|
rs374994783
|
|
|
NM_006623.4(PHGDH):c.1078+11G>T
|
|
|
|
NM_006623.4(PHGDH):c.1078+18C>T
|
|
|
|
NM_006623.4(PHGDH):c.1078+1G>A
|
rs1224279673
|
|
|
NM_006623.4(PHGDH):c.1078+7T>C
|
rs2101216709
|
|
|
NM_006623.4(PHGDH):c.1079-14C>T
|
rs755593718
|
|
|
NM_006623.4(PHGDH):c.1079-17C>G
|
|
|
|
NM_006623.4(PHGDH):c.1079-2A>G
|
rs2101220673
|
|
|
NM_006623.4(PHGDH):c.1079-51_1079-19del
|
rs1652215363
|
|
|
NM_006623.4(PHGDH):c.1079-6C>T
|
|
|
|
NM_006623.4(PHGDH):c.1079-9T>C
|
rs2101220637
|
|
|
NM_006623.4(PHGDH):c.107T>C (p.Leu36Pro)
|
rs904243407
|
|
|
NM_006623.4(PHGDH):c.1086C>T (p.Ser362=)
|
|
|
|
NM_006623.4(PHGDH):c.1089G>C (p.Leu363=)
|
|
|
|
NM_006623.4(PHGDH):c.1089del (p.Lys364fs)
|
|
|
|
NM_006623.4(PHGDH):c.109A>G (p.Ser37Gly)
|
|
|
|
NM_006623.4(PHGDH):c.1100G>C (p.Gly367Ala)
|
rs768838647
|
|
|
NM_006623.4(PHGDH):c.1108C>T (p.Leu370=)
|
|
|
|
NM_006623.4(PHGDH):c.1110A>G (p.Leu370=)
|
|
|
|
NM_006623.4(PHGDH):c.1112G>A (p.Ser371Asn)
|
|
|
|
NM_006623.4(PHGDH):c.1113C>T (p.Ser371=)
|
|
|
|
NM_006623.4(PHGDH):c.1117G>A (p.Ala373Thr)
|
rs201553627
|
|
|
NM_006623.4(PHGDH):c.1117G>T (p.Ala373Ser)
|
|
|
|
NM_006623.4(PHGDH):c.1120G>C (p.Val374Leu)
|
|
|
|
NM_006623.4(PHGDH):c.1122C>A (p.Val374=)
|
rs2101220979
|
|
|
NM_006623.4(PHGDH):c.1128C>G (p.Val376=)
|
|
|
|
NM_006623.4(PHGDH):c.1131C>G (p.Gly377=)
|
|
|
|
NM_006623.4(PHGDH):c.1137G>C (p.Leu379=)
|
rs144019971
|
|
|
NM_006623.4(PHGDH):c.1140A>G (p.Lys380=)
|
|
|
|
NM_006623.4(PHGDH):c.1146T>C (p.Ala382=)
|
rs2101221161
|
|
|
NM_006623.4(PHGDH):c.1153C>T (p.Gln385Ter)
|
rs2101221217
|
|
|
NM_006623.4(PHGDH):c.1157C>T (p.Ala386Val)
|
|
|
|
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=)
|
rs144484007
|
|
|
NM_006623.4(PHGDH):c.1177G>A (p.Ala393Thr)
|
|
|
|
NM_006623.4(PHGDH):c.117_118delinsCT (p.Glu39_Glu40delinsAspTer)
|
rs2101136632
|
|
|
NM_006623.4(PHGDH):c.1185G>C (p.Leu395=)
|
rs1652224641
|
|
|
NM_006623.4(PHGDH):c.1185G>T (p.Leu395=)
|
|
|
|
NM_006623.4(PHGDH):c.1186del (p.Leu396fs)
|
rs1652224758
|
|
|
NM_006623.4(PHGDH):c.118G>T (p.Glu40Ter)
|
rs1650721954
|
|
|
NM_006623.4(PHGDH):c.118_119delinsTT (p.Glu40Leu)
|
rs2101136638
|
|
|
NM_006623.4(PHGDH):c.1197G>A (p.Glu399=)
|
rs758882501
|
|
|
NM_006623.4(PHGDH):c.1197_1198delinsTT (p.Glu399_Ala400delinsAspSer)
|
rs2101221402
|
|
|
NM_006623.4(PHGDH):c.1206C>T (p.Leu402=)
|
|
|
|
NM_006623.4(PHGDH):c.1209+14C>T
|
|
|
|
NM_006623.4(PHGDH):c.1209+16C>T
|
|
|
|
NM_006623.4(PHGDH):c.1209+17C>A
|
rs587674701
|
|
|
NM_006623.4(PHGDH):c.1209+17C>G
|
rs587674701
|
|
|
NM_006623.4(PHGDH):c.1209+17C>T
|
rs587674701
|
|
|
NM_006623.4(PHGDH):c.1209+19C>G
|
|
|
|
NM_006623.4(PHGDH):c.1209+20G>A
|
|
|
|
NM_006623.4(PHGDH):c.1209+5G>T
|
|
|
|
NM_006623.4(PHGDH):c.1209+6C>A
|
rs774142037
|
|
|
NM_006623.4(PHGDH):c.1209+7C>T
|
|
|
|
NM_006623.4(PHGDH):c.1209+9C>A
|
|
|
|
NM_006623.4(PHGDH):c.1209+9C>T
|
rs745641174
|
|
|
NM_006623.4(PHGDH):c.1209+9del
|
rs776173839
|
|
|
NM_006623.4(PHGDH):c.120G>T (p.Glu40Asp)
|
rs745693493
|
|
|
NM_006623.4(PHGDH):c.1210-13C>T
|
|
|
|
NM_006623.4(PHGDH):c.1210-14C>A
|
|
|
|
NM_006623.4(PHGDH):c.1210-19C>T
|
|
|
|
NM_006623.4(PHGDH):c.1210-20A>G
|
|
|
|
NM_006623.4(PHGDH):c.1210-20A>T
|
|
|
|
NM_006623.4(PHGDH):c.1210-4A>G
|
rs2101224413
|
|
|
NM_006623.4(PHGDH):c.1210-5C>T
|
|
|
|
NM_006623.4(PHGDH):c.1210-8C>A
|
|
|
|
NM_006623.4(PHGDH):c.1210-8C>T
|
rs2101224399
|
|
|
NM_006623.4(PHGDH):c.1210-9T>A
|
|
|
|
NM_006623.4(PHGDH):c.1213A>T (p.Thr405Ser)
|
|
|
|
NM_006623.4(PHGDH):c.1222dup (p.His408fs)
|
rs2101224520
|
|
|
NM_006623.4(PHGDH):c.1228_1232dup (p.Ala412fs)
|
rs1215699403
|
|
|
NM_006623.4(PHGDH):c.1233T>C (p.Ala411=)
|
rs2101224620
|
|
|
NM_006623.4(PHGDH):c.1235C>T (p.Ala412Val)
|
|
|
|
NM_006623.4(PHGDH):c.1236A>C (p.Ala412=)
|
rs2101224630
|
|
|
NM_006623.4(PHGDH):c.1241G>A (p.Gly414Glu)
|
|
|
|
NM_006623.4(PHGDH):c.1242G>A (p.Gly414=)
|
rs2101224665
|
|
|
NM_006623.4(PHGDH):c.1258del (p.Glu420fs)
|
|
|
|
NM_006623.4(PHGDH):c.1266C>T (p.Leu422=)
|
|
|
|
NM_006623.4(PHGDH):c.1278C>T (p.Ala426=)
|
rs2101224812
|
|
|
NM_006623.4(PHGDH):c.127G>C (p.Ala43Pro)
|
|
|
|
NM_006623.4(PHGDH):c.1281G>A (p.Leu427=)
|
|
|
|
NM_006623.4(PHGDH):c.1282del (p.Ala428fs)
|
|
|
|
NM_006623.4(PHGDH):c.1284A>G (p.Ala428=)
|
rs1244466093
|
|
|
NM_006623.4(PHGDH):c.1287C>T (p.Gly429=)
|
|
|
|
NM_006623.4(PHGDH):c.1289C>A (p.Ala430Asp)
|
|
|
|
NM_006623.4(PHGDH):c.1297C>T (p.Gln433Ter)
|
|
|
|
NM_006623.4(PHGDH):c.1299G>A (p.Gln433=)
|
rs900277109
|
|
|
NM_006623.4(PHGDH):c.12A>T (p.Ala4=)
|
|
|
|
NM_006623.4(PHGDH):c.1307G>T (p.Gly436Val)
|
rs1571020741
|
|
|
NM_006623.4(PHGDH):c.1308C>T (p.Gly436=)
|
rs2101224967
|
|
|
NM_006623.4(PHGDH):c.1313T>C (p.Val438Ala)
|
rs1652277316
|
|
|
NM_006623.4(PHGDH):c.1314C>T (p.Val438=)
|
|
|
|
NM_006623.4(PHGDH):c.1323T>C (p.Thr441=)
|
|
|
|
NM_006623.4(PHGDH):c.1326G>T (p.Thr442=)
|
rs543703
|
|
|
NM_006623.4(PHGDH):c.1327C>G (p.Pro443Ala)
|
rs1052377436
|
|
|
NM_006623.4(PHGDH):c.1329T>G (p.Pro443=)
|
|
|
|
NM_006623.4(PHGDH):c.1332A>C (p.Val444=)
|
|
|
|
NM_006623.4(PHGDH):c.1333C>T (p.Leu445=)
|
rs2101225117
|
|
|
NM_006623.4(PHGDH):c.1338G>C (p.Gln446His)
|
|
|
|
NM_006623.4(PHGDH):c.1341G>T (p.Gly447=)
|
|
|
|
NM_006623.4(PHGDH):c.1344C>A (p.Leu448=)
|
rs1390869782
|
|
|
NM_006623.4(PHGDH):c.1345A>G (p.Asn449Asp)
|
rs2101225206
|
|
|
NM_006623.4(PHGDH):c.1348G>A (p.Gly450Arg)
|
|
|
|
NM_006623.4(PHGDH):c.1351_1352insTGC (p.Ala451delinsValPro)
|
|
|
|
NM_006623.4(PHGDH):c.1352C>G (p.Ala451Gly)
|
|
|
|
NM_006623.4(PHGDH):c.1358T>G (p.Phe453Cys)
|
rs2101225315
|
|
|
NM_006623.4(PHGDH):c.1361G>A (p.Arg454Lys)
|
rs2101225331
|
|
|
NM_006623.4(PHGDH):c.1362G>A (p.Arg454=)
|
|
|
|
NM_006623.4(PHGDH):c.1363C>T (p.Pro455Ser)
|
|
|
|
NM_006623.4(PHGDH):c.1378C>T (p.Arg460Cys)
|
rs749406489
|
|
|
NM_006623.4(PHGDH):c.1379G>A (p.Arg460His)
|
rs587696887
|
|
|
NM_006623.4(PHGDH):c.1379G>C (p.Arg460Pro)
|
rs587696887
|
|
|
NM_006623.4(PHGDH):c.1379G>T (p.Arg460Leu)
|
rs587696887
|
|
|
NM_006623.4(PHGDH):c.138+12G>A
|
|
|
|
NM_006623.4(PHGDH):c.138+19A>T
|
|
|
|
NM_006623.4(PHGDH):c.138+1G>T
|
|
|
|
NM_006623.4(PHGDH):c.138+6G>T
|
|
|
|
NM_006623.4(PHGDH):c.138+9A>C
|
|
|
|
NM_006623.4(PHGDH):c.1381A>C (p.Arg461=)
|
|
|
|
NM_006623.4(PHGDH):c.1383G>A (p.Arg461=)
|
rs2101225455
|
|
|
NM_006623.4(PHGDH):c.1389G>A (p.Leu463=)
|
|
|
|
NM_006623.4(PHGDH):c.138G>C (p.Gln46His)
|
rs143217390
|
|
|
NM_006623.4(PHGDH):c.139-10del
|
|
|
|
NM_006623.4(PHGDH):c.139-10dup
|
|
|
|
NM_006623.4(PHGDH):c.139-11T>C
|
|
|
|
NM_006623.4(PHGDH):c.139-15T>C
|
|
|
|
NM_006623.4(PHGDH):c.139-16G>T
|
|
|
|
NM_006623.4(PHGDH):c.139-18A>T
|
|
|
|
NM_006623.4(PHGDH):c.139-2A>G
|
|
|
|
NM_006623.4(PHGDH):c.139-3C>T
|
rs750037132
|
|
|
NM_006623.4(PHGDH):c.139-5T>C
|
|
|
|
NM_006623.4(PHGDH):c.139-6C>T
|
|
|
|
NM_006623.4(PHGDH):c.139-7G>A
|
|
|
|
NM_006623.4(PHGDH):c.139-7G>T
|
rs1460987400
|
|
|
NM_006623.4(PHGDH):c.1393C>T (p.Leu465=)
|
|
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
|
NM_006623.4(PHGDH):c.1399C>T (p.Leu467=)
|
|
|
|
NM_006623.4(PHGDH):c.13A>G (p.Asn5Asp)
|
rs745781701
|
|
|
NM_006623.4(PHGDH):c.1401A>C (p.Leu467=)
|
rs768039058
|
|
|
NM_006623.4(PHGDH):c.1401A>T (p.Leu467=)
|
rs768039058
|
|
|
NM_006623.4(PHGDH):c.1405C>T (p.Arg469Trp)
|
|
|
|
NM_006623.4(PHGDH):c.1413G>A (p.Gln471=)
|
|
|
|
NM_006623.4(PHGDH):c.1413G>T (p.Gln471His)
|
|
|
|
NM_006623.4(PHGDH):c.1416C>A (p.Thr472=)
|
|
|
|
NM_006623.4(PHGDH):c.1416C>T (p.Thr472=)
|
|
|
|
NM_006623.4(PHGDH):c.1422C>T (p.Asp474=)
|
rs2101225739
|
|
|
NM_006623.4(PHGDH):c.1423C>T (p.Pro475Ser)
|
rs757928289
|
|
|
NM_006623.4(PHGDH):c.1426G>A (p.Ala476Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1428A>G (p.Ala476=)
|
rs2101225800
|
|
|
NM_006623.4(PHGDH):c.1429dup (p.Met477fs)
|
|
|
|
NM_006623.4(PHGDH):c.142T>C (p.Cys48Arg)
|
rs1296126379
|
|
|
NM_006623.4(PHGDH):c.1430T>C (p.Met477Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1437_1440del (p.Pro479_Thr480insTer)
|
rs2101225889
|
|
|
NM_006623.4(PHGDH):c.1438A>G (p.Thr480Ala)
|
|
|
|
NM_006623.4(PHGDH):c.143G>A (p.Cys48Tyr)
|
|
|
|
NM_006623.4(PHGDH):c.1440C>G (p.Thr480=)
|
|
|
|
NM_006623.4(PHGDH):c.1441A>G (p.Met481Val)
|
|
|
|
NM_006623.4(PHGDH):c.1442T>C (p.Met481Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1447+10G>A
|
rs1259366206
|
|
|
NM_006623.4(PHGDH):c.1447+18G>A
|
rs1652288973
|
|
|
NM_006623.4(PHGDH):c.1447+9G>T
|
rs200578872
|
|
|
NM_006623.4(PHGDH):c.1448-16T>C
|
rs2101228802
|
|
|
NM_006623.4(PHGDH):c.1448-18A>G
|
|
|
|
NM_006623.4(PHGDH):c.1448-8A>G
|
rs1652325929
|
|
|
NM_006623.4(PHGDH):c.1448-9T>C
|
|
|
|
NM_006623.4(PHGDH):c.1449C>A (p.Gly483=)
|
rs1652326306
|
|
|
NM_006623.4(PHGDH):c.1457C>A (p.Ala486Glu)
|
|
|
|
NM_006623.4(PHGDH):c.1458A>G (p.Ala486=)
|
|
|
|
NM_006623.4(PHGDH):c.1467C>A (p.Gly489=)
|
|
|
|
NM_006623.4(PHGDH):c.1467C>G (p.Gly489=)
|
|
|
|
NM_006623.4(PHGDH):c.1472G>A (p.Arg491Gln)
|
rs1452461315
|
|
|
NM_006623.4(PHGDH):c.1473G>T (p.Arg491=)
|
|
|
|
NM_006623.4(PHGDH):c.1485C>G (p.Tyr495Ter)
|
|
|
|
NM_006623.4(PHGDH):c.1491T>A (p.Thr497=)
|
rs1557983680
|
|
|
NM_006623.4(PHGDH):c.1494A>C (p.Ser498=)
|
|
|
|
NM_006623.4(PHGDH):c.1497G>A (p.Leu499=)
|
|
|
|
NM_006623.4(PHGDH):c.1497G>T (p.Leu499=)
|
|
|
|
NM_006623.4(PHGDH):c.1499del (p.Val500fs)
|
|
|
|
NM_006623.4(PHGDH):c.1514C>T (p.Thr505Ile)
|
|
|
|
NM_006623.4(PHGDH):c.1518G>A (p.Trp506Ter)
|
|
|
|
NM_006623.4(PHGDH):c.1522G>A (p.Val508Ile)
|
|
|
|
NM_006623.4(PHGDH):c.1526T>C (p.Met509Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1545G>T (p.Leu515=)
|
rs1265382006
|
|
|
NM_006623.4(PHGDH):c.1548C>T (p.Pro516=)
|
rs2101229419
|
|
|
NM_006623.4(PHGDH):c.1554G>A (p.Leu518=)
|
|
|
|
NM_006623.4(PHGDH):c.1558G>A (p.Ala520Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1559C>T (p.Ala520Val)
|
|
|
|
NM_006623.4(PHGDH):c.1560G>T (p.Ala520=)
|
|
|
|
NM_006623.4(PHGDH):c.1565_1566del (p.Lys522fs)
|
|
|
|
NM_006623.4(PHGDH):c.1571A>G (p.His524Arg)
|
rs2101229584
|
|
|
NM_006623.4(PHGDH):c.1572T>C (p.His524=)
|
|
|
|
NM_006623.4(PHGDH):c.1572_1575dup (p.Thr526fs)
|
|
|
|
NM_006623.4(PHGDH):c.1583C>A (p.Ala528Asp)
|
|
|
|
NM_006623.4(PHGDH):c.1583C>G (p.Ala528Gly)
|
|
|
|
NM_006623.4(PHGDH):c.1583C>T (p.Ala528Val)
|
rs141408688
|
|
|
NM_006623.4(PHGDH):c.1587C>T (p.Phe529=)
|
|
|
|
NM_006623.4(PHGDH):c.1593C>T (p.Phe531=)
|
|
|
|
NM_006623.4(PHGDH):c.1599C>T (p.Phe533=)
|
rs778576636
|
|
|
NM_006623.4(PHGDH):c.162C>G (p.Arg54=)
|
|
|
|
NM_006623.4(PHGDH):c.16C>T (p.Leu6=)
|
rs1557961852
|
|
|
NM_006623.4(PHGDH):c.171del (p.Lys58fs)
|
rs750368565
|
|
|
NM_006623.4(PHGDH):c.175G>T (p.Val59Leu)
|
rs2101154786
|
|
|
NM_006623.4(PHGDH):c.176T>G (p.Val59Gly)
|
rs1340275757
|
|
|
NM_006623.4(PHGDH):c.187G>A (p.Val63Ile)
|
rs2101154843
|
|
|
NM_006623.4(PHGDH):c.196G>A (p.Ala66Thr)
|
|
|
|
NM_006623.4(PHGDH):c.1A>C (p.Met1Leu)
|
|
|
|
NM_006623.4(PHGDH):c.1A>G (p.Met1Val)
|
rs1331155296
|
|
|
NM_006623.4(PHGDH):c.201T>C (p.Ala67=)
|
rs1167677460
|
|
|
NM_006623.4(PHGDH):c.20G>C (p.Arg7Pro)
|
rs1650717022
|
|
|
NM_006623.4(PHGDH):c.211C>T (p.Gln71Ter)
|
|
|
|
NM_006623.4(PHGDH):c.214G>A (p.Val72Met)
|
rs958052810
|
|
|
NM_006623.4(PHGDH):c.216G>A (p.Val72=)
|
|
|
|
NM_006623.4(PHGDH):c.216G>C (p.Val72=)
|
rs1651146348
|
|
|
NM_006623.4(PHGDH):c.218_219insTT (p.Gly74fs)
|
|
|
|
NM_006623.4(PHGDH):c.223A>C (p.Arg75=)
|
rs1177622207
|
|
|
NM_006623.4(PHGDH):c.234A>C (p.Thr78=)
|
|
|
|
NM_006623.4(PHGDH):c.240G>T (p.Val80=)
|
rs1232918316
|
|
|
NM_006623.4(PHGDH):c.242A>T (p.Asp81Val)
|
|
|
|
NM_006623.4(PHGDH):c.243C>T (p.Asp81=)
|
|
|
|
NM_006623.4(PHGDH):c.245A>G (p.Asn82Ser)
|
rs587625944
|
|
|
NM_006623.4(PHGDH):c.246T>C (p.Asn82=)
|
rs1651149194
|
|
|
NM_006623.4(PHGDH):c.249G>T (p.Val83=)
|
|
|
|
NM_006623.4(PHGDH):c.24A>T (p.Lys8Asn)
|
rs2101136375
|
|
|
NM_006623.4(PHGDH):c.250G>T (p.Asp84Tyr)
|
|
|
|
NM_006623.4(PHGDH):c.264A>G (p.Ala88=)
|
|
|
|
NM_006623.4(PHGDH):c.266C>A (p.Thr89Lys)
|
rs1651150753
|
|
|
NM_006623.4(PHGDH):c.267A>C (p.Thr89=)
|
rs767488641
|
|
|
NM_006623.4(PHGDH):c.270G>A (p.Arg90=)
|
rs2101155256
|
|
|
NM_006623.4(PHGDH):c.271_274del (p.Lys91fs)
|
rs2101155246
|
|
|
NM_006623.4(PHGDH):c.275G>A (p.Gly92Asp)
|
|
|
|
NM_006623.4(PHGDH):c.279C>A (p.Ile93=)
|
|
|
|
NM_006623.4(PHGDH):c.280T>C (p.Leu94=)
|
|
|
|
NM_006623.4(PHGDH):c.281T>G (p.Leu94Trp)
|
rs1651151523
|
|
|
NM_006623.4(PHGDH):c.282G>A (p.Leu94=)
|
rs1477824093
|
|
|
NM_006623.4(PHGDH):c.285T>C (p.Val95=)
|
|
|
|
NM_006623.4(PHGDH):c.290+14G>C
|
|
|
|
NM_006623.4(PHGDH):c.290+16T>A
|
|
|
|
NM_006623.4(PHGDH):c.290+18C>A
|
rs779206688
|
|
|
NM_006623.4(PHGDH):c.290+18_290+25del
|
|
|
|
NM_006623.4(PHGDH):c.290+19G>A
|
rs746145056
|
|
|
NM_006623.4(PHGDH):c.290+19G>T
|
rs746145056
|
|
|
NM_006623.4(PHGDH):c.290+2T>C
|
rs886041874
|
|
|
NM_006623.4(PHGDH):c.290+3A>C
|
rs2101155326
|
|
|
NM_006623.4(PHGDH):c.290+6T>C
|
|
|
|
NM_006623.4(PHGDH):c.290+8A>G
|
|
|
|
NM_006623.4(PHGDH):c.290+9T>A
|
rs1651152863
|
|
|
NM_006623.4(PHGDH):c.291-13C>G
|
|
|
|
NM_006623.4(PHGDH):c.291-14T>C
|
rs1651260693
|
|
|
NM_006623.4(PHGDH):c.291-1G>A
|
rs2101160151
|
|
|
NM_006623.4(PHGDH):c.291-3del
|
rs2101160136
|
|
|
NM_006623.4(PHGDH):c.291-6C>T
|
|
|
|
NM_006623.4(PHGDH):c.291-7T>A
|
|
|
|
NM_006623.4(PHGDH):c.294C>T (p.Thr98=)
|
|
|
|
NM_006623.4(PHGDH):c.299A>G (p.Asn100Ser)
|
|
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
|
NM_006623.4(PHGDH):c.300T>C (p.Asn100=)
|
|
|
|
NM_006623.4(PHGDH):c.303G>C (p.Gly101=)
|
|
|
|
NM_006623.4(PHGDH):c.30C>T (p.Leu10=)
|
rs2101136394
|
|
|
NM_006623.4(PHGDH):c.310C>T (p.Leu104Phe)
|
|
|
|
NM_006623.4(PHGDH):c.319G>A (p.Ala107Thr)
|
|
|
|
NM_006623.4(PHGDH):c.322G>C (p.Glu108Gln)
|
|
|
|
NM_006623.4(PHGDH):c.327C>T (p.Leu109=)
|
rs1352957356
|
|
|
NM_006623.4(PHGDH):c.336A>C (p.Gly112=)
|
|
|
|
NM_006623.4(PHGDH):c.336A>G (p.Gly112=)
|
rs1174976585
|
|
|
NM_006623.4(PHGDH):c.348C>A (p.Cys116Ter)
|
rs2101160478
|
|
|
NM_006623.4(PHGDH):c.349C>T (p.Leu117=)
|
rs2101160489
|
|
|
NM_006623.4(PHGDH):c.356+11G>C
|
|
|
|
NM_006623.4(PHGDH):c.356+13_356+14del
|
|
|
|
NM_006623.4(PHGDH):c.356+2T>G
|
rs1651264976
|
|
|
NM_006623.4(PHGDH):c.356+3A>G
|
|
|
|
NM_006623.4(PHGDH):c.356+7C>A
|
rs1570993643
|
|
|
NM_006623.4(PHGDH):c.357-15T>C
|
|
|
|
NM_006623.4(PHGDH):c.357-15T>G
|
rs2101171045
|
|
|
NM_006623.4(PHGDH):c.357-16G>C
|
|
|
|
NM_006623.4(PHGDH):c.357-18C>T
|
|
|
|
NM_006623.4(PHGDH):c.357-19C>A
|
|
|
|
NM_006623.4(PHGDH):c.357-3C>A
|
|
|
|
NM_006623.4(PHGDH):c.357-4G>A
|
rs2101171094
|
|
|
NM_006623.4(PHGDH):c.357-4G>T
|
|
|
|
NM_006623.4(PHGDH):c.357-6T>C
|
rs2101171082
|
|
|
NM_006623.4(PHGDH):c.357-9T>C
|
rs1173989487
|
|
|
NM_006623.4(PHGDH):c.357G>T (p.Arg119Ser)
|
|
|
|
NM_006623.4(PHGDH):c.358C>T (p.Gln120Ter)
|
|
|
|
NM_006623.4(PHGDH):c.35G>T (p.Ser12Ile)
|
|
|
|
NM_006623.4(PHGDH):c.363del (p.Gln123fs)
|
rs781273456
|
|
|
NM_006623.4(PHGDH):c.364_365delinsTT (p.Pro122Phe)
|
rs2101171167
|
|
|
NM_006623.4(PHGDH):c.366C>T (p.Pro122=)
|
|
|
|
NM_006623.4(PHGDH):c.371C>T (p.Ala124Val)
|
|
|
|
NM_006623.4(PHGDH):c.372G>T (p.Ala124=)
|
rs146740411
|
|
|
NM_006623.4(PHGDH):c.377C>G (p.Ala126Gly)
|
|
|
|
NM_006623.4(PHGDH):c.380C>T (p.Ser127Leu)
|
|
|
|
NM_006623.4(PHGDH):c.381G>A (p.Ser127=)
|
rs886045205
|
|
|
NM_006623.4(PHGDH):c.381G>C (p.Ser127=)
|
rs886045205
|
|
|
NM_006623.4(PHGDH):c.381G>T (p.Ser127=)
|
|
|
|
NM_006623.4(PHGDH):c.385A>T (p.Lys129Ter)
|
|
|
|
NM_006623.4(PHGDH):c.391G>A (p.Gly131Ser)
|
|
|
|
NM_006623.4(PHGDH):c.395A>G (p.Lys132Arg)
|
|
|
|
NM_006623.4(PHGDH):c.396A>G (p.Lys132=)
|
|
|
|
NM_006623.4(PHGDH):c.398G>A (p.Trp133Ter)
|
|
|
|
NM_006623.4(PHGDH):c.399G>A (p.Trp133Ter)
|
|
|
|
NM_006623.4(PHGDH):c.399G>C (p.Trp133Cys)
|
rs1651447610
|
|
|
NM_006623.4(PHGDH):c.403C>A (p.Arg135=)
|
|
|
|
NM_006623.4(PHGDH):c.403C>G (p.Arg135Gly)
|
|
|
|
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp)
|
rs267606949
|
|
|
NM_006623.4(PHGDH):c.408G>A (p.Lys136=)
|
|
|
|
NM_006623.4(PHGDH):c.40A>G (p.Ser14Gly)
|
rs1448633854
|
|
|
NM_006623.4(PHGDH):c.411+11G>A
|
|
|
|
NM_006623.4(PHGDH):c.411+16G>T
|
|
|
|
NM_006623.4(PHGDH):c.411+18C>T
|
rs1388415964
|
|
|
NM_006623.4(PHGDH):c.411+20C>T
|
|
|
|
NM_006623.4(PHGDH):c.411+2T>C
|
rs1302054606
|
|
|
NM_006623.4(PHGDH):c.411+3G>A
|
|
|
|
NM_006623.4(PHGDH):c.411+5G>T
|
rs775568707
|
|
|
NM_006623.4(PHGDH):c.411+9C>A
|
rs187075075
|
|
|
NM_006623.4(PHGDH):c.412-16G>C
|
|
|
|
NM_006623.4(PHGDH):c.412-1G>A
|
|
|
|
NM_006623.4(PHGDH):c.412-1G>C
|
rs1651455730
|
|
|
NM_006623.4(PHGDH):c.412-4G>A
|
|
|
|
NM_006623.4(PHGDH):c.412-8G>C
|
|
|
|
NM_006623.4(PHGDH):c.412-8G>T
|
|
|
|
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg)
|
rs587777770
|
|
|
NM_006623.4(PHGDH):c.423A>G (p.Thr141=)
|
|
|
|
NM_006623.4(PHGDH):c.426G>A (p.Glu142=)
|
|
|
|
NM_006623.4(PHGDH):c.427C>A (p.Leu143Met)
|
rs143155925
|
|
|
NM_006623.4(PHGDH):c.427C>T (p.Leu143=)
|
rs143155925
|
|
|
NM_006623.4(PHGDH):c.42C>T (p.Ser14=)
|
|
|
|
NM_006623.4(PHGDH):c.438G>A (p.Lys146=)
|
|
|
|
NM_006623.4(PHGDH):c.447A>T (p.Gly149=)
|
|
|
|
NM_006623.4(PHGDH):c.457C>T (p.Leu153=)
|
|
|
|
NM_006623.4(PHGDH):c.458T>C (p.Leu153Pro)
|
rs1311224546
|
|
|
NM_006623.4(PHGDH):c.460G>A (p.Gly154Ser)
|
rs1056647813
|
|
|
NM_006623.4(PHGDH):c.462C>A (p.Gly154=)
|
rs752236796
|
|
|
NM_006623.4(PHGDH):c.462C>G (p.Gly154=)
|
rs752236796
|
|
|
NM_006623.4(PHGDH):c.472A>G (p.Arg158Gly)
|
|
|
|
NM_006623.4(PHGDH):c.474A>G (p.Arg158=)
|
|
|
|
NM_006623.4(PHGDH):c.476A>G (p.Glu159Gly)
|
rs756996899
|
|
|
NM_006623.4(PHGDH):c.476_477del (p.Glu159fs)
|
|
|
|
NM_006623.4(PHGDH):c.483dup (p.Thr162fs)
|
|
|
|
NM_006623.4(PHGDH):c.486C>G (p.Thr162=)
|
rs1054405028
|
|
|
NM_006623.4(PHGDH):c.486C>T (p.Thr162=)
|
rs1054405028
|
|
|
NM_006623.4(PHGDH):c.498C>A (p.Ser166=)
|
|
|
|
NM_006623.4(PHGDH):c.498C>T (p.Ser166=)
|
|
|
|
NM_006623.4(PHGDH):c.500T>C (p.Phe167Ser)
|
|
|
|
NM_006623.4(PHGDH):c.504G>A (p.Gly168=)
|
rs2101172535
|
|
|
NM_006623.4(PHGDH):c.509del (p.Lys170fs)
|
|
|
|
NM_006623.4(PHGDH):c.510+10T>C
|
|
|
|
NM_006623.4(PHGDH):c.510+12C>T
|
rs932348459
|
|
|
NM_006623.4(PHGDH):c.510+15G>T
|
|
|
|
NM_006623.4(PHGDH):c.510+18C>T
|
|
|
|
NM_006623.4(PHGDH):c.510+8G>A
|
|
|
|
NM_006623.4(PHGDH):c.511-10T>G
|
|
|
|
NM_006623.4(PHGDH):c.511-14T>C
|
|
|
|
NM_006623.4(PHGDH):c.511-15C>T
|
|
|
|
NM_006623.4(PHGDH):c.511-16T>C
|
|
|
|
NM_006623.4(PHGDH):c.511-17C>A
|
|
|
|
NM_006623.4(PHGDH):c.511-17C>G
|
|
|
|
NM_006623.4(PHGDH):c.511-17C>T
|
|
|
|
NM_006623.4(PHGDH):c.511-19C>G
|
|
|
|
NM_006623.4(PHGDH):c.511-20T>C
|
|
|
|
NM_006623.4(PHGDH):c.511-2A>G
|
rs2101195348
|
|
|
NM_006623.4(PHGDH):c.511-5A>T
|
|
|
|
NM_006623.4(PHGDH):c.511-5del
|
rs2101195325
|
|
|
NM_006623.4(PHGDH):c.511-9T>G
|
|
|
|
NM_006623.4(PHGDH):c.518G>A (p.Gly173Glu)
|
rs2101195384
|
|
|
NM_006623.4(PHGDH):c.519G>A (p.Gly173=)
|
rs754326499
|
|
|
NM_006623.4(PHGDH):c.528C>T (p.Pro176=)
|
rs2101195431
|
|
|
NM_006623.4(PHGDH):c.537C>A (p.Ser179=)
|
|
|
|
NM_006623.4(PHGDH):c.543G>A (p.Glu181=)
|
rs886045206
|
|
|
NM_006623.4(PHGDH):c.546C>T (p.Val182=)
|
|
|
|
NM_006623.4(PHGDH):c.552C>T (p.Ala184=)
|
rs761331510
|
|
|
NM_006623.4(PHGDH):c.555C>A (p.Ser185=)
|
rs1484089549
|
|
|
NM_006623.4(PHGDH):c.570G>A (p.Gln190=)
|
|
|
|
NM_006623.4(PHGDH):c.574C>T (p.Pro192Ser)
|
|
|
|
NM_006623.4(PHGDH):c.578del (p.Leu193fs)
|
|
|
|
NM_006623.4(PHGDH):c.579G>A (p.Leu193=)
|
rs1651854823
|
|
|
NM_006623.4(PHGDH):c.588C>A (p.Ile196=)
|
|
|
|
NM_006623.4(PHGDH):c.606C>T (p.Phe202=)
|
|
|
|
NM_006623.4(PHGDH):c.612T>C (p.Thr204=)
|
rs2101195879
|
|
|
NM_006623.4(PHGDH):c.619A>T (p.Thr207Ser)
|
|
|
|
NM_006623.4(PHGDH):c.627C>A (p.Leu209=)
|
rs2101195942
|
|
|
NM_006623.4(PHGDH):c.627C>G (p.Leu209=)
|
rs2101195942
|
|
|
NM_006623.4(PHGDH):c.627C>T (p.Leu209=)
|
rs2101195942
|
|
|
NM_006623.4(PHGDH):c.628C>T (p.Leu210=)
|
|
|
|
NM_006623.4(PHGDH):c.62A>C (p.Lys21Thr)
|
rs891735095
|
|
|
NM_006623.4(PHGDH):c.638C>T (p.Thr213Met)
|
|
|
|
NM_006623.4(PHGDH):c.643+13T>A
|
|
|
|
NM_006623.4(PHGDH):c.643+1G>A
|
|
|
|
NM_006623.4(PHGDH):c.643+20G>A
|
|
|
|
NM_006623.4(PHGDH):c.643+7G>T
|
rs943894952
|
|
|
NM_006623.4(PHGDH):c.644-16C>T
|
|
|
|
NM_006623.4(PHGDH):c.644-17G>A
|
|
|
|
NM_006623.4(PHGDH):c.644-17G>C
|
|
|
|
NM_006623.4(PHGDH):c.644-18T>C
|
|
|
|
NM_006623.4(PHGDH):c.644-20G>A
|
|
|
|
NM_006623.4(PHGDH):c.644-6T>C
|
|
|
|
NM_006623.4(PHGDH):c.644-7C>A
|
|
|
|
NM_006623.4(PHGDH):c.644-9T>A
|
|
|
|
NM_006623.4(PHGDH):c.644-9T>G
|
rs1388567211
|
|
|
NM_006623.4(PHGDH):c.658A>C (p.Asn220His)
|
rs2101198018
|
|
|
NM_006623.4(PHGDH):c.659A>T (p.Asn220Ile)
|
|
|
|
NM_006623.4(PHGDH):c.661_662del (p.Thr221fs)
|
rs1651881638
|
|
|
NM_006623.4(PHGDH):c.665_666dup (p.Ala223fs)
|
|
|
|
NM_006623.4(PHGDH):c.670C>T (p.Gln224Ter)
|
rs2101198087
|
|
|
NM_006623.4(PHGDH):c.674G>A (p.Cys225Tyr)
|
rs2101198107
|
|
|
NM_006623.4(PHGDH):c.675C>T (p.Cys225=)
|
|
|
|
NM_006623.4(PHGDH):c.678G>A (p.Lys226=)
|
rs2101198131
|
|
|
NM_006623.4(PHGDH):c.682G>C (p.Gly228Arg)
|
rs139063843
|
|
|
NM_006623.4(PHGDH):c.683G>A (p.Gly228Glu)
|
|
|
|
NM_006623.4(PHGDH):c.688C>A (p.Arg230Ser)
|
rs1366611140
|
|
|
NM_006623.4(PHGDH):c.68T>A (p.Leu23Ter)
|
|
|
|
NM_006623.4(PHGDH):c.68T>G (p.Leu23Trp)
|
rs587615037
|
|
|
NM_006623.4(PHGDH):c.694G>A (p.Val232Met)
|
rs1359915168
|
|
|
NM_006623.4(PHGDH):c.695T>A (p.Val232Glu)
|
|
|
|
NM_006623.4(PHGDH):c.699C>T (p.Asn233=)
|
rs2101198306
|
|
|
NM_006623.4(PHGDH):c.69G>C (p.Leu23Phe)
|
rs2101136517
|
|
|
NM_006623.4(PHGDH):c.709G>T (p.Gly237Ter)
|
rs1341545186
|
|
|
NM_006623.4(PHGDH):c.713G>T (p.Gly238Val)
|
rs2101198427
|
|
|
NM_006623.4(PHGDH):c.714del (p.Ile239fs)
|
rs730882181
|
|
|
NM_006623.4(PHGDH):c.717C>T (p.Ile239=)
|
rs1324025863
|
|
|
NM_006623.4(PHGDH):c.720G>T (p.Val240=)
|
rs773300796
|
|
|
NM_006623.4(PHGDH):c.721G>A (p.Asp241Asn)
|
|
|
|
NM_006623.4(PHGDH):c.729C>T (p.Gly243=)
|
|
|
|
NM_006623.4(PHGDH):c.72A>G (p.Gln24=)
|
|
|
|
NM_006623.4(PHGDH):c.730G>A (p.Ala244Thr)
|
|
|
|
NM_006623.4(PHGDH):c.735G>C (p.Leu245=)
|
|
|
|
NM_006623.4(PHGDH):c.738C>G (p.Leu246=)
|
rs753236992
|
|
|
NM_006623.4(PHGDH):c.740G>A (p.Arg247Gln)
|
|
|
|
NM_006623.4(PHGDH):c.742G>A (p.Ala248Thr)
|
|
|
|
NM_006623.4(PHGDH):c.743C>A (p.Ala248Asp)
|
rs201782441
|
|
|
NM_006623.4(PHGDH):c.747G>A (p.Leu249=)
|
|
|
|
NM_006623.4(PHGDH):c.753T>A (p.Ser251=)
|
|
|
|
NM_006623.4(PHGDH):c.753T>C (p.Ser251=)
|
rs2101198705
|
|
|
NM_006623.4(PHGDH):c.764C>T (p.Ala255Val)
|
rs1571010631
|
|
|
NM_006623.4(PHGDH):c.766G>A (p.Gly256Arg)
|
|
|
|
NM_006623.4(PHGDH):c.771T>C (p.Ala257=)
|
|
|
|
NM_006623.4(PHGDH):c.775C>T (p.Leu259=)
|
rs139830902
|
|
|
NM_006623.4(PHGDH):c.775del (p.Leu259fs)
|
|
|
|
NM_006623.4(PHGDH):c.781G>A (p.Val261Met)
|
rs267606947
|
|
|
NM_006623.4(PHGDH):c.789G>A (p.Thr263=)
|
|
|
|
NM_006623.4(PHGDH):c.789G>C (p.Thr263=)
|
rs368452731
|
|
|
NM_006623.4(PHGDH):c.792+17C>T
|
|
|
|
NM_006623.4(PHGDH):c.792+20A>G
|
rs1651889944
|
|
|
NM_006623.4(PHGDH):c.792+6T>C
|
rs146953046
|
|
|
NM_006623.4(PHGDH):c.792+7G>A
|
rs774410126
|
|
|
NM_006623.4(PHGDH):c.793-11T>G
|
rs770897520
|
|
|
NM_006623.4(PHGDH):c.793-12C>G
|
|
|
|
NM_006623.4(PHGDH):c.793-14C>T
|
|
|
|
NM_006623.4(PHGDH):c.793-15T>C
|
|
|
|
NM_006623.4(PHGDH):c.793-18G>C
|
|
|
|
NM_006623.4(PHGDH):c.793-20A>C
|
|
|
|
NM_006623.4(PHGDH):c.793-5G>T
|
|
|
|
NM_006623.4(PHGDH):c.793-7T>C
|
rs2101204358
|
|
|
NM_006623.4(PHGDH):c.795G>A (p.Glu265=)
|
|
|
|
NM_006623.4(PHGDH):c.79G>C (p.Gly27Arg)
|
rs755568069
|
|
|
NM_006623.4(PHGDH):c.803G>A (p.Arg268Gln)
|
|
|
|
NM_006623.4(PHGDH):c.819G>A (p.Val273=)
|
|
|
|
NM_006623.4(PHGDH):c.824A>G (p.His275Arg)
|
|
|
|
NM_006623.4(PHGDH):c.828G>A (p.Glu276=)
|
rs1478978406
|
|
|
NM_006623.4(PHGDH):c.834C>T (p.Val278=)
|
|
|
|
NM_006623.4(PHGDH):c.846C>T (p.Pro282=)
|
|
|
|
NM_006623.4(PHGDH):c.84G>A (p.Leu28=)
|
|
|
|
NM_006623.4(PHGDH):c.851T>C (p.Leu284Pro)
|
|
|
|
NM_006623.4(PHGDH):c.852G>C (p.Leu284=)
|
rs1297161098
|
|
|
NM_006623.4(PHGDH):c.852G>T (p.Leu284=)
|
rs1297161098
|
|
|
NM_006623.4(PHGDH):c.854G>A (p.Gly285Asp)
|
|
|
|
NM_006623.4(PHGDH):c.859del (p.Ser287fs)
|
|
|
|
NM_006623.4(PHGDH):c.868G>A (p.Glu290Lys)
|
rs2101204959
|
|
|
NM_006623.4(PHGDH):c.86A>G (p.Gln29Arg)
|
rs1650720815
|
|
|
NM_006623.4(PHGDH):c.870G>A (p.Glu290=)
|
rs1355536303
|
|
|
NM_006623.4(PHGDH):c.874C>T (p.Gln292Ter)
|
rs749134845
|
|
|
NM_006623.4(PHGDH):c.87G>T (p.Gln29His)
|
|
|
|
NM_006623.4(PHGDH):c.881G>T (p.Arg294Leu)
|
|
|
|
NM_006623.4(PHGDH):c.889G>T (p.Glu297Ter)
|
rs1489498331
|
|
|
NM_006623.4(PHGDH):c.889del (p.Glu297fs)
|
|
|
|
NM_006623.4(PHGDH):c.891G>A (p.Glu297=)
|
|
|
|
NM_006623.4(PHGDH):c.894A>C (p.Glu298Asp)
|
|
|
|
NM_006623.4(PHGDH):c.900T>C (p.Ala300=)
|
|
|
|
NM_006623.4(PHGDH):c.901del (p.Val301fs)
|
rs1571013274
|
|
|
NM_006623.4(PHGDH):c.907T>C (p.Phe303Leu)
|
|
|
|
NM_006623.4(PHGDH):c.919del (p.Met306_Val307insTer)
|
rs2101205361
|
|
|
NM_006623.4(PHGDH):c.930A>G (p.Lys310=)
|
rs1651981974
|
|
|
NM_006623.4(PHGDH):c.938C>T (p.Thr313Met)
|
|
|
|
NM_006623.4(PHGDH):c.939G>A (p.Thr313=)
|
|
|
|
NM_006623.4(PHGDH):c.939G>C (p.Thr313=)
|
|
|
|
NM_006623.4(PHGDH):c.93G>A (p.Val31=)
|
|
|
|
NM_006623.4(PHGDH):c.940G>A (p.Gly314Arg)
|
|
|
|
NM_006623.4(PHGDH):c.945+14C>T
|
|
|
|
NM_006623.4(PHGDH):c.945+15C>G
|
|
|
|
NM_006623.4(PHGDH):c.945+17G>A
|
|
|
|
NM_006623.4(PHGDH):c.945+1G>A
|
rs758517215
|
|
|
NM_006623.4(PHGDH):c.945+1G>T
|
rs758517215
|
|
|
NM_006623.4(PHGDH):c.945+20G>A
|
rs374620703
|
|
|
NM_006623.4(PHGDH):c.945+9_945+10insCTGGC
|
rs777871013
|
|
|
NM_006623.4(PHGDH):c.946-11A>T
|
|
|
|
NM_006623.4(PHGDH):c.946-16C>G
|
|
|
|
NM_006623.4(PHGDH):c.946-19G>A
|
rs745359903
|
|
|
NM_006623.4(PHGDH):c.946-2A>G
|
rs1217925678
|
|
|
NM_006623.4(PHGDH):c.946-7T>C
|
|
|
|
NM_006623.4(PHGDH):c.946G>C (p.Val316Leu)
|
rs146398308
|
|
|
NM_006623.4(PHGDH):c.94_110del (p.Glu32fs)
|
|
|
|
NM_006623.4(PHGDH):c.953C>T (p.Ala318Val)
|
rs1030988421
|
|
|
NM_006623.4(PHGDH):c.958_968del (p.Ala320fs)
|
rs1398758559
|
|
|
NM_006623.4(PHGDH):c.960C>G (p.Ala320=)
|
rs2101215979
|
|
|
NM_006623.4(PHGDH):c.960C>T (p.Ala320=)
|
rs2101215979
|
|
|
NM_006623.4(PHGDH):c.971C>T (p.Ala324Val)
|
|
|
|
NM_006623.4(PHGDH):c.972C>G (p.Ala324=)
|
|
|
|
NM_006623.4(PHGDH):c.972C>T (p.Ala324=)
|
rs2101216070
|
|
|
NM_006623.4(PHGDH):c.975C>T (p.Phe325=)
|
|
|
|
NM_006623.4(PHGDH):c.981A>T (p.Pro327=)
|
|
|
|
NM_006623.4(PHGDH):c.984C>T (p.His328=)
|
|
|
|
NM_006623.4(PHGDH):c.990G>A (p.Lys330=)
|
rs2101216214
|
|
|
NM_006623.4(PHGDH):c.991C>A (p.Pro331Thr)
|
|
|
|
NM_006623.4(PHGDH):c.991C>T (p.Pro331Ser)
|
rs370562656
|
|
|
NM_006623.4(PHGDH):c.992del (p.Pro331fs)
|
|
|
|
NM_006623.4(PHGDH):c.996G>A (p.Trp332Ter)
|
rs2101216259
|
|
|
NM_006623.4(PHGDH):c.99G>A (p.Lys33=)
|
rs2101136591
|
|
|
NM_006859.4(LIAS):c.1023T>C (p.His341=)
|
|
|
|
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp)
|
rs1745057681
|
|
|
NM_006859.4(LIAS):c.1041T>C (p.Pro347=)
|
|
|
|
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His)
|
rs1745058560
|
|
|
NM_006859.4(LIAS):c.105A>G (p.Lys35=)
|
rs2109867811
|
|
|
NM_006859.4(LIAS):c.1065A>T (p.Ala355=)
|
rs765479168
|
|
|
NM_006859.4(LIAS):c.1066+12T>C
|
|
|
|
NM_006859.4(LIAS):c.1066+16G>A
|
|
|
|
NM_006859.4(LIAS):c.1066+18G>T
|
|
|
|
NM_006859.4(LIAS):c.1066+19C>T
|
|
|
|
NM_006859.4(LIAS):c.1067-11T>C
|
rs1315541765
|
|
|
NM_006859.4(LIAS):c.1067-15C>G
|
|
|
|
NM_006859.4(LIAS):c.1068T>G (p.Gly356=)
|
|
|
|
NM_006859.4(LIAS):c.107dup (p.Glu37fs)
|
|
|
|
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
|
|
|
|
NM_006859.4(LIAS):c.1098A>G (p.Lys366=)
|
|
|
|
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)
|
rs1560674852
|
|
|
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)
|
|
|
|
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
|
rs1745219682
|
|
|
NM_006859.4(LIAS):c.1113C>T (p.Asp371=)
|
|
|
|
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe)
|
rs2109893939
|
|
|
NM_006859.4(LIAS):c.1118A>G (p.Ter373=)
|
|
|
|
NM_006859.4(LIAS):c.114C>A (p.Leu38=)
|
rs750439302
|
|
|
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
|
rs1401099440
|
|
|
NM_006859.4(LIAS):c.120G>A (p.Gln40=)
|
|
|
|
NM_006859.4(LIAS):c.120G>T (p.Gln40His)
|
rs1041843537
|
|
|
NM_006859.4(LIAS):c.130del (p.Asp44fs)
|
|
|
|
NM_006859.4(LIAS):c.144T>C (p.Phe48=)
|
rs745864982
|
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
|
NM_006859.4(LIAS):c.158T>A (p.Leu53His)
|
rs2109868054
|
|
|
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)
|
rs1473782911
|
|
|
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)
|
rs1744463777
|
|
|
NM_006859.4(LIAS):c.166A>C (p.Arg56=)
|
|
|
|
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
|
|
|
|
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)
|
rs141723499
|
|
|
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu)
|
rs1744293519
|
|
|
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
|
|
|
|
NM_006859.4(LIAS):c.1A>C (p.Met1Leu)
|
rs776691180
|
|
|
NM_006859.4(LIAS):c.212del (p.Gly71fs)
|
rs1417695501
|
|
|
NM_006859.4(LIAS):c.218+14T>A
|
|
|
|
NM_006859.4(LIAS):c.218+15G>A
|
|
|
|
NM_006859.4(LIAS):c.218+19T>C
|
|
|
|
NM_006859.4(LIAS):c.218+1G>A
|
|
|
|
NM_006859.4(LIAS):c.218+4A>G
|
rs1744469769
|
|
|
NM_006859.4(LIAS):c.218+7_218+13dup
|
|
|
|
NM_006859.4(LIAS):c.219-6C>T
|
|
|
|
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
|
|
|
|
NM_006859.4(LIAS):c.231T>C (p.Pro77=)
|
|
|
|
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg)
|
rs1744535027
|
|
|
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala)
|
rs1560666276
|
|
|
NM_006859.4(LIAS):c.266dup (p.Asn89fs)
|
rs1355425067
|
|
|
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
|
|
|
|
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
|
|
|
|
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)
|
rs1553934069
|
|
|
NM_006859.4(LIAS):c.280A>T (p.Lys94Ter)
|
|
|
|
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
|
|
|
|
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
|
|
|
|
NM_006859.4(LIAS):c.291G>A (p.Leu97=)
|
|
|
|
NM_006859.4(LIAS):c.292C>A (p.Arg98=)
|
|
|
|
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)
|
rs796052702
|
|
|
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
|
rs1744543385
|
|
|
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp)
|
rs886043545
|
|
|
NM_006859.4(LIAS):c.312+17T>G
|
rs1744546093
|
|
|
NM_006859.4(LIAS):c.312+8G>T
|
|
|
|
NM_006859.4(LIAS):c.312A>G (p.Thr104=)
|
rs749254524
|
|
|
NM_006859.4(LIAS):c.313-12T>G
|
rs2109872778
|
|
|
NM_006859.4(LIAS):c.313-14C>T
|
|
|
|
NM_006859.4(LIAS):c.313-19C>T
|
|
|
|
NM_006859.4(LIAS):c.313-6A>G
|
|
|
|
NM_006859.4(LIAS):c.313-7C>T
|
|
|
|
NM_006859.4(LIAS):c.313G>A (p.Val105Ile)
|
rs775744955
|
|
|
NM_006859.4(LIAS):c.315A>G (p.Val105=)
|
|
|
|
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu)
|
rs773238728
|
|
|
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
|
|
|
|
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
|
|
|
|
NM_006859.4(LIAS):c.342T>C (p.Ile114=)
|
|
|
|
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp)
|
rs1183607358
|
|
|
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)
|
|
|
|
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)
|
rs1436660040
|
|
|
NM_006859.4(LIAS):c.363del (p.Glu122fs)
|
rs1553934199
|
|
|
NM_006859.4(LIAS):c.367_389dup (p.Leu132fs)
|
|
|
|
NM_006859.4(LIAS):c.391A>G (p.Met131Val)
|
rs1744633174
|
|
|
NM_006859.4(LIAS):c.393+17C>T
|
|
|
|
NM_006859.4(LIAS):c.393+6G>T
|
rs2109873076
|
|
|
NM_006859.4(LIAS):c.393+7C>A
|
rs372423537
|
|
|
NM_006859.4(LIAS):c.393G>A (p.Met131Ile)
|
rs2109873042
|
|
|
NM_006859.4(LIAS):c.394-6T>C
|
rs1744704251
|
|
|
NM_006859.4(LIAS):c.399G>A (p.Met133Ile)
|
rs774320280
|
|
|
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)
|
|
|
|
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp)
|
rs1578236671
|
|
|
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr)
|
rs1196830198
|
|
|
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
|
rs1744706299
|
|
|
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro)
|
rs184218786
|
|
|
NM_006859.4(LIAS):c.45+10G>A
|
|
|
|
NM_006859.4(LIAS):c.45+12G>A
|
|
|
|
NM_006859.4(LIAS):c.45+18C>T
|
|
|
|
NM_006859.4(LIAS):c.45+19G>T
|
|
|
|
NM_006859.4(LIAS):c.45+20G>T
|
rs1424759183
|
|
|
NM_006859.4(LIAS):c.45+7G>A
|
rs1263617011
|
|
|
NM_006859.4(LIAS):c.46-13A>T
|
|
|
|
NM_006859.4(LIAS):c.46-17A>G
|
rs2109867537
|
|
|
NM_006859.4(LIAS):c.46-5T>C
|
rs764526355
|
|
|
NM_006859.4(LIAS):c.462A>C (p.Pro154=)
|
rs924459280
|
|
|
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr)
|
rs2109875370
|
|
|
NM_006859.4(LIAS):c.480del (p.Tyr161fs)
|
|
|
|
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser)
|
rs1744708957
|
|
|
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
|
|
|
|
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
|
|
|
|
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)
|
rs751814381
|
|
|
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)
|
|
|
|
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp)
|
rs2109875475
|
|
|
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro)
|
rs2109875481
|
|
|
NM_006859.4(LIAS):c.520del (p.Tyr174fs)
|
rs760569998
|
|
|
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
|
rs906832972
|
|
|
NM_006859.4(LIAS):c.550+11C>T
|
|
|
|
NM_006859.4(LIAS):c.550+12A>G
|
|
|
|
NM_006859.4(LIAS):c.550+16T>C
|
|
|
|
NM_006859.4(LIAS):c.550+4A>G
|
rs1560668262
|
|
|
NM_006859.4(LIAS):c.550+9G>A
|
rs1744712599
|
|
|
NM_006859.4(LIAS):c.551-16A>T
|
|
|
|
NM_006859.4(LIAS):c.551-19T>C
|
rs2109875645
|
|
|
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
|
rs1744715001
|
|
|
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)
|
|
|
|
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
|
rs1744443342
|
|
|
NM_006859.4(LIAS):c.588C>T (p.Thr196=)
|
|
|
|
NM_006859.4(LIAS):c.58T>C (p.Tyr20His)
|
|
|
|
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr)
|
rs1553934367
|
|
|
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
|
rs1744716622
|
|
|
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)
|
|
|
|
NM_006859.4(LIAS):c.597T>C (p.Tyr199=)
|
rs2109875753
|
|
|
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys)
|
rs372288500
|
|
|
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)
|
|
|
|
NM_006859.4(LIAS):c.600A>G (p.Leu200=)
|
|
|
|
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
|
|
|
|
NM_006859.4(LIAS):c.608+7A>C
|
|
|
|
NM_006859.4(LIAS):c.609-13C>T
|
|
|
|
NM_006859.4(LIAS):c.609-6C>T
|
rs1744804569
|
|
|
NM_006859.4(LIAS):c.619A>G (p.Ile207Val)
|
rs765961914
|
|
|
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)
|
|
|
|
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile)
|
rs1268712461
|
|
|
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)
|
rs1560669433
|
|
|
NM_006859.4(LIAS):c.649C>T (p.Arg217Ter)
|
rs997841253
|
|
|
NM_006859.4(LIAS):c.64dup (p.Cys22fs)
|
rs960319940
|
|
|
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)
|
rs1021766315
|
|
|
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
|
|
|
|
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)
|
rs1744807781
|
|
|
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)
|
|
|
|
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro)
|
rs1553934545
|
|
|
NM_006859.4(LIAS):c.694G>C (p.Asp232His)
|
|
|
|
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
|
rs1475625272
|
|
|
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro)
|
rs758964059
|
|
|
NM_006859.4(LIAS):c.705A>C (p.Ala235=)
|
rs111583368
|
|
|
NM_006859.4(LIAS):c.708T>G (p.His236Gln)
|
rs1057524792
|
|
|
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp)
|
rs778212967
|
|
|
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)
|
rs768692068
|
|
|
NM_006859.4(LIAS):c.714A>G (p.Val238=)
|
|
|
|
NM_006859.4(LIAS):c.723C>A (p.Val241=)
|
rs1029290249
|
|
|
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
|
|
|
|
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)
|
rs746107734
|
|
|
NM_006859.4(LIAS):c.737+20A>T
|
|
|
|
NM_006859.4(LIAS):c.737+6dup
|
|
|
|
NM_006859.4(LIAS):c.73G>C (p.Val25Leu)
|
rs1744445711
|
|
|
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
|
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_006859.4(LIAS):c.790C>T (p.His264Tyr)
|
|
|
|
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg)
|
rs1560671038
|
|
|
NM_006859.4(LIAS):c.7C>T (p.Leu3=)
|
rs1553933562
|
|
|
NM_006859.4(LIAS):c.801G>A (p.Lys267=)
|
|
|
|
NM_006859.4(LIAS):c.802G>A (p.Val268Ile)
|
rs371831096
|
|
|
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
|
rs140846573
|
|
|
NM_006859.4(LIAS):c.817A>G (p.Ile273Val)
|
rs1744927078
|
|
|
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)
|
|
|
|
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)
|
rs528498907
|
|
|
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr)
|
rs1744928054
|
|
|
NM_006859.4(LIAS):c.834A>C (p.Ile278=)
|
|
|
|
NM_006859.4(LIAS):c.838T>C (p.Leu280=)
|
|
|
|
NM_006859.4(LIAS):c.849C>A (p.Gly283=)
|
rs146030265
|
|
|
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
|
rs1744929854
|
|
|
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
|
rs1744930458
|
|
|
NM_006859.4(LIAS):c.883+10T>C
|
|
|
|
NM_006859.4(LIAS):c.883+15_883+56del
|
rs1368518925
|
|
|
NM_006859.4(LIAS):c.883+6G>T
|
rs934916861
|
|
|
NM_006859.4(LIAS):c.884-1G>A
|
rs201155530
|
|
|
NM_006859.4(LIAS):c.884-3C>A
|
rs1207306697
|
|
|
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)
|
rs1744968434
|
|
|
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
|
rs1744968826
|
|
|
NM_006859.4(LIAS):c.900T>C (p.Asp300=)
|
rs958145023
|
|
|
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser)
|
rs1744970129
|
|
|
NM_006859.4(LIAS):c.924A>G (p.Gln308=)
|
|
|
|
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
|
|
|
|
NM_006859.4(LIAS):c.93G>A (p.Leu31=)
|
|
|
|
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr)
|
rs2109884619
|
|
|
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys)
|
rs1397998638
|
|
|
NM_006859.4(LIAS):c.947A>G (p.His316Arg)
|
rs1578243031
|
|
|
NM_006859.4(LIAS):c.954+11C>A
|
|
|
|
NM_006859.4(LIAS):c.954+18dup
|
|
|
|
NM_006859.4(LIAS):c.954+20C>G
|
|
|
|
NM_006859.4(LIAS):c.954+20C>T
|
rs918706580
|
|
|
NM_006859.4(LIAS):c.954+3A>G
|
rs2109884668
|
|
|
NM_006859.4(LIAS):c.954+9A>G
|
|
|
|
NM_006859.4(LIAS):c.955-11T>C
|
|
|
|
NM_006859.4(LIAS):c.955-13T>G
|
rs755822707
|
|
|
NM_006859.4(LIAS):c.955-3T>G
|
|
|
|
NM_006859.4(LIAS):c.955-4C>G
|
rs2109887808
|
|
|
NM_006859.4(LIAS):c.955-7A>T
|
|
|
|
NM_006859.4(LIAS):c.963A>G (p.Glu321=)
|
|
|
|
NM_006859.4(LIAS):c.975T>C (p.Pro325=)
|
|
|
|
NM_006859.4(LIAS):c.999dup (p.Val334fs)
|
rs2109887859
|
|
|
NM_012213.3(MLYCD):c.1005C>A (p.Thr335=)
|
rs752690201
|
|
|
NM_012213.3(MLYCD):c.1005C>G (p.Thr335=)
|
|
|
|
NM_012213.3(MLYCD):c.1012C>G (p.Leu338Val)
|
rs1211916115
|
|
|
NM_012213.3(MLYCD):c.1024C>T (p.Leu342=)
|
|
|
|
NM_012213.3(MLYCD):c.102C>A (p.Gly34=)
|
|
|
|
NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu)
|
rs1294536971
|
|
|
NM_012213.3(MLYCD):c.1032G>A (p.Ser344=)
|
|
|
|
NM_012213.3(MLYCD):c.1032G>T (p.Ser344=)
|
|
|
|
NM_012213.3(MLYCD):c.1038G>A (p.Thr346=)
|
|
|
|
NM_012213.3(MLYCD):c.1039_1041del (p.Lys347del)
|
|
|
|
NM_012213.3(MLYCD):c.1047T>G (p.His349Gln)
|
|
|
|
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)
|
|
|
|
NM_012213.3(MLYCD):c.1062C>G (p.Leu354=)
|
|
|
|
NM_012213.3(MLYCD):c.1062C>T (p.Leu354=)
|
|
|
|
NM_012213.3(MLYCD):c.1065T>C (p.Phe355=)
|
|
|
|
NM_012213.3(MLYCD):c.1065_1066insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGGAATGAACTCTTT (p.Phe355_Thr356insPhePhePhePhePhePheXaaXaaXaaXaaArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProArgAsnGluLeuPhe)
|
|
|
|
NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp)
|
rs200573073
|
|
|
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
|
|
|
|
NM_012213.3(MLYCD):c.1074G>T (p.Ser358=)
|
|
|
|
NM_012213.3(MLYCD):c.1083G>A (p.Lys361=)
|
|
|
|
NM_012213.3(MLYCD):c.1089C>A (p.Ile363=)
|
rs372909321
|
|
|
NM_012213.3(MLYCD):c.108G>A (p.Leu36=)
|
|
|
|
NM_012213.3(MLYCD):c.1092G>A (p.Ser364=)
|
|
|
|
NM_012213.3(MLYCD):c.1098C>A (p.Ile366=)
|
|
|
|
NM_012213.3(MLYCD):c.1104T>G (p.Gly368=)
|
|
|
|
NM_012213.3(MLYCD):c.1106G>T (p.Gly369Val)
|
rs2151060022
|
|
|
NM_012213.3(MLYCD):c.1107C>T (p.Gly369=)
|
|
|
|
NM_012213.3(MLYCD):c.1109C>A (p.Pro370His)
|
rs759839871
|
|
|
NM_012213.3(MLYCD):c.1116C>T (p.Asn372=)
|
|
|
|
NM_012213.3(MLYCD):c.1122C>T (p.Thr374=)
|
|
|
|
NM_012213.3(MLYCD):c.1125C>G (p.Leu375=)
|
|
|
|
NM_012213.3(MLYCD):c.1129CTC[2] (p.Leu379del)
|
|
|
|
NM_012213.3(MLYCD):c.1131C>G (p.Leu377=)
|
|
|
|
NM_012213.3(MLYCD):c.1137C>G (p.Leu379=)
|
rs2151060040
|
|
|
NM_012213.3(MLYCD):c.1137C>T (p.Leu379=)
|
|
|
|
NM_012213.3(MLYCD):c.1143C>T (p.Ser381=)
|
|
|
|
NM_012213.3(MLYCD):c.1147G>C (p.Glu383Gln)
|
|
|
|
NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu)
|
rs376324546
|
|
|
NM_012213.3(MLYCD):c.1161G>A (p.Ser387=)
|
|
|
|
NM_012213.3(MLYCD):c.1170G>A (p.Leu390=)
|
rs2151060055
|
|
|
NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln)
|
rs201576638
|
|
|
NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly)
|
rs200750439
|
|
|
NM_012213.3(MLYCD):c.1185G>A (p.Gln395=)
|
|
|
|
NM_012213.3(MLYCD):c.1191G>C (p.Pro397=)
|
|
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|
NM_012213.3(MLYCD):c.1194G>T (p.Leu398=)
|
|
|
|
NM_012213.3(MLYCD):c.1207G>T (p.Ala403Ser)
|
|
|
|
NM_012213.3(MLYCD):c.1209C>G (p.Ala403=)
|
|
|
|
NM_012213.3(MLYCD):c.1209C>T (p.Ala403=)
|
|
|
|
NM_012213.3(MLYCD):c.1215C>T (p.Tyr405=)
|
|
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|
NM_012213.3(MLYCD):c.1216C>T (p.Leu406=)
|
|
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NM_012213.3(MLYCD):c.1221T>C (p.Tyr407=)
|
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|
NM_012213.3(MLYCD):c.1233C>T (p.His411=)
|
|
|
|
NM_012213.3(MLYCD):c.1236C>A (p.Arg412=)
|
rs370278897
|
|
|
NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg)
|
rs374608119
|
|
|
NM_012213.3(MLYCD):c.1239C>A (p.Gly413=)
|
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|
NM_012213.3(MLYCD):c.1239C>T (p.Gly413=)
|
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|
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)
|
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|
NM_012213.3(MLYCD):c.1242C>T (p.Tyr414=)
|
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|
|
NM_012213.3(MLYCD):c.1243G>A (p.Ala415Thr)
|
rs372255821
|
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NM_012213.3(MLYCD):c.1245G>A (p.Ala415=)
|
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|
NM_012213.3(MLYCD):c.1245G>C (p.Ala415=)
|
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NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter)
|
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|
NM_012213.3(MLYCD):c.1254C>A (p.Pro418=)
|
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NM_012213.3(MLYCD):c.1254C>G (p.Pro418=)
|
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|
NM_012213.3(MLYCD):c.1254C>T (p.Pro418=)
|
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|
NM_012213.3(MLYCD):c.1260C>A (p.Ala420=)
|
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|
NM_012213.3(MLYCD):c.1260C>T (p.Ala420=)
|
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NM_012213.3(MLYCD):c.1270C>T (p.Leu424=)
|
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|
NM_012213.3(MLYCD):c.1277A>G (p.Asn426Ser)
|
rs777032506
|
|
|
NM_012213.3(MLYCD):c.1284G>A (p.Ala428=)
|
rs1205978566
|
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NM_012213.3(MLYCD):c.1285G>A (p.Val429Met)
|
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|
NM_012213.3(MLYCD):c.1289T>C (p.Leu430Pro)
|
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|
NM_012213.3(MLYCD):c.1290G>C (p.Leu430=)
|
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|
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=)
|
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|
NM_012213.3(MLYCD):c.129G>T (p.Leu43=)
|
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|
NM_012213.3(MLYCD):c.1302C>T (p.Asn434=)
|
rs1381165121
|
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NM_012213.3(MLYCD):c.130C>T (p.Leu44=)
|
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|
NM_012213.3(MLYCD):c.1311G>A (p.Ala437=)
|
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|
NM_012213.3(MLYCD):c.1320C>T (p.Ser440=)
|
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|
NM_012213.3(MLYCD):c.1323C>T (p.Leu441=)
|
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|
NM_012213.3(MLYCD):c.1326A>G (p.Arg442=)
|
rs2151060171
|
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NM_012213.3(MLYCD):c.1329C>A (p.Gly443=)
|
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|
NM_012213.3(MLYCD):c.132G>A (p.Leu44=)
|
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|
NM_012213.3(MLYCD):c.1334C>G (p.Thr445Ser)
|
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|
|
NM_012213.3(MLYCD):c.1335C>A (p.Thr445=)
|
rs373675093
|
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|
NM_012213.3(MLYCD):c.1341C>T (p.Ser447=)
|
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|
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)
|
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|
NM_012213.3(MLYCD):c.1351A>G (p.Met451Val)
|
rs1567637203
|
|
|
NM_012213.3(MLYCD):c.1356C>G (p.Ala452=)
|
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|
NM_012213.3(MLYCD):c.1356C>T (p.Ala452=)
|
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|
NM_012213.3(MLYCD):c.1362C>T (p.Tyr454=)
|
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|
NM_012213.3(MLYCD):c.1363C>T (p.Arg455Cys)
|
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|
NM_012213.3(MLYCD):c.1364G>T (p.Arg455Leu)
|
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|
NM_012213.3(MLYCD):c.1365C>A (p.Arg455=)
|
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|
NM_012213.3(MLYCD):c.1368C>T (p.Tyr456=)
|
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|
|
NM_012213.3(MLYCD):c.1380G>C (p.Glu460Asp)
|
rs2151060214
|
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|
NM_012213.3(MLYCD):c.1382C>G (p.Thr461Arg)
|
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|
NM_012213.3(MLYCD):c.1392C>T (p.Asn464=)
|
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|
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
|
|
|
|
NM_012213.3(MLYCD):c.1398C>G (p.Thr466=)
|
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|
|
NM_012213.3(MLYCD):c.1400C>G (p.Ser467Cys)
|
|
|
|
NM_012213.3(MLYCD):c.1401C>T (p.Ser467=)
|
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|
NM_012213.3(MLYCD):c.141G>C (p.Ala47=)
|
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|
|
NM_012213.3(MLYCD):c.141_142del (p.Val48fs)
|
rs1906687546
|
|
|
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg)
|
rs200413924
|
|
|
NM_012213.3(MLYCD):c.1424A>T (p.Lys475Ile)
|
rs200413924
|
|
|
NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val)
|
rs1239750288
|
|
|
NM_012213.3(MLYCD):c.1428C>T (p.Ala476=)
|
|
|
|
NM_012213.3(MLYCD):c.1431T>C (p.Ser477=)
|
|
|
|
NM_012213.3(MLYCD):c.1440C>T (p.Val480=)
|
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|
|
NM_012213.3(MLYCD):c.1448T>C (p.Leu483Pro)
|
|
|
|
NM_012213.3(MLYCD):c.1449A>G (p.Leu483=)
|
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|
|
NM_012213.3(MLYCD):c.1479C>G (p.Leu493=)
|
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|
NM_012213.3(MLYCD):c.1481dup (p.Ter494TrpextTer?)
|
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|
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)
|
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|
|
NM_012213.3(MLYCD):c.159C>T (p.Ala53=)
|
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|
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn)
|
|
|
|
NM_012213.3(MLYCD):c.162C>A (p.Tyr54Ter)
|
|
|
|
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val)
|
rs1906688843
|
|
|
NM_012213.3(MLYCD):c.165G>A (p.Glu55=)
|
|
|
|
NM_012213.3(MLYCD):c.172_493del (p.Glu58fs)
|
|
|
|
NM_012213.3(MLYCD):c.174G>A (p.Glu58=)
|
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|
NM_012213.3(MLYCD):c.177G>A (p.Lys59=)
|
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|
NM_012213.3(MLYCD):c.180A>C (p.Thr60=)
|
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|
|
NM_012213.3(MLYCD):c.180A>T (p.Thr60=)
|
rs760721204
|
|
|
NM_012213.3(MLYCD):c.18A>G (p.Pro6=)
|
rs1436058295
|
|
|
NM_012213.3(MLYCD):c.190G>A (p.Ala64Thr)
|
rs2151053170
|
|
|
NM_012213.3(MLYCD):c.192C>T (p.Ala64=)
|
|
|
|
NM_012213.3(MLYCD):c.193G>A (p.Glu65Lys)
|
|
|
|
NM_012213.3(MLYCD):c.193G>T (p.Glu65Ter)
|
|
|
|
NM_012213.3(MLYCD):c.197G>A (p.Gly66Asp)
|
|
|
|
NM_012213.3(MLYCD):c.199C>T (p.Gln67Ter)
|
|
|
|
NM_012213.3(MLYCD):c.1A>C (p.Met1Leu)
|
|
|
|
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)
|
rs1179555424
|
|
|
NM_012213.3(MLYCD):c.210C>T (p.Asp70=)
|
|
|
|
NM_012213.3(MLYCD):c.213C>G (p.Phe71Leu)
|
rs780815688
|
|
|
NM_012213.3(MLYCD):c.213C>T (p.Phe71=)
|
|
|
|
NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg)
|
rs1906691947
|
|
|
NM_012213.3(MLYCD):c.21C>A (p.Gly7=)
|
|
|
|
NM_012213.3(MLYCD):c.21C>G (p.Gly7=)
|
|
|
|
NM_012213.3(MLYCD):c.222C>T (p.Phe74=)
|
|
|
|
NM_012213.3(MLYCD):c.225C>G (p.Tyr75Ter)
|
|
|
|
NM_012213.3(MLYCD):c.226G>A (p.Gly76Ser)
|
rs1238223514
|
|
|
NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys)
|
rs1238223514
|
|
|
NM_012213.3(MLYCD):c.22_34del (p.Leu8fs)
|
|
|
|
NM_012213.3(MLYCD):c.22_34dup (p.Arg12fs)
|
rs938617354
|
|
|
NM_012213.3(MLYCD):c.231G>A (p.Gly77=)
|
|
|
|
NM_012213.3(MLYCD):c.237C>A (p.Ala79=)
|
|
|
|
NM_012213.3(MLYCD):c.237C>G (p.Ala79=)
|
|
|
|
NM_012213.3(MLYCD):c.246C>G (p.Ala82=)
|
|
|
|
NM_012213.3(MLYCD):c.248_252del (p.Gln83fs)
|
|
|
|
NM_012213.3(MLYCD):c.24G>A (p.Leu8=)
|
|
|
|
NM_012213.3(MLYCD):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_012213.3(MLYCD):c.258A>G (p.Glu86=)
|
|
|
|
NM_012213.3(MLYCD):c.259C>T (p.Leu87=)
|
|
|
|
NM_012213.3(MLYCD):c.261G>A (p.Leu87=)
|
|
|
|
NM_012213.3(MLYCD):c.261G>C (p.Leu87=)
|
|
|
|
NM_012213.3(MLYCD):c.264G>A (p.Leu88=)
|
|
|
|
NM_012213.3(MLYCD):c.276G>T (p.Ala92=)
|
|
|
|
NM_012213.3(MLYCD):c.27G>A (p.Thr9=)
|
|
|
|
NM_012213.3(MLYCD):c.27G>T (p.Thr9=)
|
|
|
|
NM_012213.3(MLYCD):c.291G>A (p.Val97=)
|
|
|
|
NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn)
|
rs1906695424
|
|
|
NM_012213.3(MLYCD):c.2T>C (p.Met1Thr)
|
|
|
|
NM_012213.3(MLYCD):c.300C>A (p.Gly100=)
|
|
|
|
NM_012213.3(MLYCD):c.306G>A (p.Val102=)
|
|
|
|
NM_012213.3(MLYCD):c.309G>A (p.Ala103=)
|
rs1361444055
|
|
|
NM_012213.3(MLYCD):c.30C>G (p.Ala10=)
|
|
|
|
NM_012213.3(MLYCD):c.30C>T (p.Ala10=)
|
|
|
|
NM_012213.3(MLYCD):c.312G>A (p.Glu104=)
|
|
|
|
NM_012213.3(MLYCD):c.321C>T (p.Ala107=)
|
|
|
|
NM_012213.3(MLYCD):c.323G>T (p.Gly108Val)
|
|
|
|
NM_012213.3(MLYCD):c.327G>T (p.Val109=)
|
|
|
|
NM_012213.3(MLYCD):c.330C>G (p.Leu110=)
|
|
|
|
NM_012213.3(MLYCD):c.336G>A (p.Leu112=)
|
|
|
|
NM_012213.3(MLYCD):c.342G>A (p.Gln114=)
|
|
|
|
NM_012213.3(MLYCD):c.343C>T (p.Gln115Ter)
|
|
|
|
NM_012213.3(MLYCD):c.346C>T (p.Gln116Ter)
|
|
|
|
NM_012213.3(MLYCD):c.351G>A (p.Arg117=)
|
|
|
|
NM_012213.3(MLYCD):c.360G>C (p.Ala120=)
|
rs2151053260
|
|
|
NM_012213.3(MLYCD):c.366G>C (p.Leu122=)
|
|
|
|
NM_012213.3(MLYCD):c.367C>T (p.Leu123=)
|
|
|
|
NM_012213.3(MLYCD):c.369G>A (p.Leu123=)
|
|
|
|
NM_012213.3(MLYCD):c.36T>G (p.Arg12=)
|
|
|
|
NM_012213.3(MLYCD):c.375C>T (p.Ala125=)
|
|
|
|
NM_012213.3(MLYCD):c.376G>T (p.Glu126Ter)
|
rs1375748581
|
|
|
NM_012213.3(MLYCD):c.381C>T (p.Asp127=)
|
|
|
|
NM_012213.3(MLYCD):c.383G>T (p.Arg128Leu)
|
|
|
|
NM_012213.3(MLYCD):c.384G>C (p.Arg128=)
|
|
|
|
NM_012213.3(MLYCD):c.390C>G (p.Arg130=)
|
|
|
|
NM_012213.3(MLYCD):c.390C>T (p.Arg130=)
|
|
|
|
NM_012213.3(MLYCD):c.393_400del (p.Leu133fs)
|
|
|
|
NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser)
|
rs775855312
|
|
|
NM_012213.3(MLYCD):c.399G>C (p.Leu133=)
|
|
|
|
NM_012213.3(MLYCD):c.404C>T (p.Pro135Leu)
|
rs767436209
|
|
|
NM_012213.3(MLYCD):c.408C>T (p.Arg136=)
|
|
|
|
NM_012213.3(MLYCD):c.414C>A (p.Arg138=)
|
|
|
|
NM_012213.3(MLYCD):c.414C>T (p.Arg138=)
|
|
|
|
NM_012213.3(MLYCD):c.416_417delinsTT (p.Gly139Val)
|
rs2151053320
|
|
|
NM_012213.3(MLYCD):c.417C>T (p.Gly139=)
|
|
|
|
NM_012213.3(MLYCD):c.429C>T (p.His143=)
|
|
|
|
NM_012213.3(MLYCD):c.42C>A (p.Leu14=)
|
|
|
|
NM_012213.3(MLYCD):c.42C>T (p.Leu14=)
|
|
|
|
NM_012213.3(MLYCD):c.445G>A (p.Gly149Ser)
|
rs767254883
|
|
|
NM_012213.3(MLYCD):c.447C>G (p.Gly149=)
|
|
|
|
NM_012213.3(MLYCD):c.453G>T (p.Val151=)
|
|
|
|
NM_012213.3(MLYCD):c.456C>G (p.Arg152=)
|
|
|
|
NM_012213.3(MLYCD):c.459C>T (p.Phe153=)
|
rs1397996961
|
|
|
NM_012213.3(MLYCD):c.460C>T (p.Leu154=)
|
|
|
|
NM_012213.3(MLYCD):c.462G>C (p.Leu154=)
|
rs754508753
|
|
|
NM_012213.3(MLYCD):c.467A>G (p.Gln156Arg)
|
|
|
|
NM_012213.3(MLYCD):c.470T>C (p.Leu157Pro)
|
|
|
|
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro)
|
|
|
|
NM_012213.3(MLYCD):c.475del (p.Ala159fs)
|
rs796051991
|
|
|
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val)
|
rs1440583341
|
|
|
NM_012213.3(MLYCD):c.477C>G (p.Ala159=)
|
|
|
|
NM_012213.3(MLYCD):c.477C>T (p.Ala159=)
|
|
|
|
NM_012213.3(MLYCD):c.478_479insGGGCG (p.Asp160fs)
|
rs760768992
|
|
|
NM_012213.3(MLYCD):c.480C>T (p.Asp160=)
|
|
|
|
NM_012213.3(MLYCD):c.481C>T (p.Leu161=)
|
|
|
|
NM_012213.3(MLYCD):c.483G>C (p.Leu161=)
|
|
|
|
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly)
|
rs1044258796
|
|
|
NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)
|
|
|
|
NM_012213.3(MLYCD):c.498C>T (p.Ala166=)
|
|
|
|
NM_012213.3(MLYCD):c.507G>C (p.Leu169=)
|
|
|
|
NM_012213.3(MLYCD):c.510G>A (p.Val170=)
|
|
|
|
NM_012213.3(MLYCD):c.512del (p.Glu171fs)
|
|
|
|
NM_012213.3(MLYCD):c.519G>A (p.Pro173=)
|
|
|
|
NM_012213.3(MLYCD):c.519G>C (p.Pro173=)
|
|
|
|
NM_012213.3(MLYCD):c.520_528+11del
|
|
|
|
NM_012213.3(MLYCD):c.525C>G (p.Val175=)
|
|
|
|
NM_012213.3(MLYCD):c.528+12C>T
|
|
|
|
NM_012213.3(MLYCD):c.528+17G>A
|
|
|
|
NM_012213.3(MLYCD):c.528+18_528+19insC
|
|
|
|
NM_012213.3(MLYCD):c.528+19T>A
|
|
|
|
NM_012213.3(MLYCD):c.528+19T>G
|
rs446036
|
|
|
NM_012213.3(MLYCD):c.528+2T>A
|
|
|
|
NM_012213.3(MLYCD):c.528+8del
|
rs1192718101
|
|
|
NM_012213.3(MLYCD):c.529-10T>C
|
|
|
|
NM_012213.3(MLYCD):c.529-11C>A
|
|
|
|
NM_012213.3(MLYCD):c.529-12T>C
|
|
|
|
NM_012213.3(MLYCD):c.529-1G>C
|
|
|
|
NM_012213.3(MLYCD):c.529-20A>T
|
|
|
|
NM_012213.3(MLYCD):c.529-9_529-8delinsGT
|
|
|
|
NM_012213.3(MLYCD):c.531A>G (p.Glu177=)
|
|
|
|
NM_012213.3(MLYCD):c.537_538del (p.Asn179fs)
|
|
|
|
NM_012213.3(MLYCD):c.54G>A (p.Leu18=)
|
|
|
|
NM_012213.3(MLYCD):c.558C>T (p.Leu186=)
|
|
|
|
NM_012213.3(MLYCD):c.573C>G (p.Ser191=)
|
|
|
|
NM_012213.3(MLYCD):c.573C>T (p.Ser191=)
|
|
|
|
NM_012213.3(MLYCD):c.582C>T (p.Phe194=)
|
|
|
|
NM_012213.3(MLYCD):c.583del (p.Phe194_Leu195insTer)
|
|
|
|
NM_012213.3(MLYCD):c.585G>T (p.Leu195=)
|
|
|
|
NM_012213.3(MLYCD):c.589C>T (p.Leu197=)
|
|
|
|
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser)
|
rs1292718330
|
|
|
NM_012213.3(MLYCD):c.609T>C (p.His203=)
|
|
|
|
NM_012213.3(MLYCD):c.615G>C (p.Pro205=)
|
|
|
|
NM_012213.3(MLYCD):c.620A>T (p.Glu207Val)
|
rs2151056698
|
|
|
NM_012213.3(MLYCD):c.622G>A (p.Val208Met)
|
rs1419499874
|
|
|
NM_012213.3(MLYCD):c.637del (p.Ser213fs)
|
rs1907006084
|
|
|
NM_012213.3(MLYCD):c.638G>T (p.Ser213Ile)
|
|
|
|
NM_012213.3(MLYCD):c.640G>T (p.Glu214Ter)
|
|
|
|
NM_012213.3(MLYCD):c.641+10dup
|
|
|
|
NM_012213.3(MLYCD):c.641+2T>C
|
|
|
|
NM_012213.3(MLYCD):c.641+7A>G
|
|
|
|
NM_012213.3(MLYCD):c.641+9T>C
|
|
|
|
NM_012213.3(MLYCD):c.642-15del
|
|
|
|
NM_012213.3(MLYCD):c.642-18_642-17del
|
|
|
|
NM_012213.3(MLYCD):c.642-19T>C
|
|
|
|
NM_012213.3(MLYCD):c.642-20C>G
|
|
|
|
NM_012213.3(MLYCD):c.642-2A>C
|
rs2151057083
|
|
|
NM_012213.3(MLYCD):c.642-4C>G
|
|
|
|
NM_012213.3(MLYCD):c.642-6C>A
|
|
|
|
NM_012213.3(MLYCD):c.642-7G>A
|
|
|
|
NM_012213.3(MLYCD):c.642-7G>T
|
|
|
|
NM_012213.3(MLYCD):c.642-8C>G
|
rs757354610
|
|
|
NM_012213.3(MLYCD):c.642-8C>T
|
|
|
|
NM_012213.3(MLYCD):c.642-9C>G
|
|
|
|
NM_012213.3(MLYCD):c.642-9C>T
|
|
|
|
NM_012213.3(MLYCD):c.649G>A (p.Ala217Thr)
|
|
|
|
NM_012213.3(MLYCD):c.657T>C (p.His219=)
|
|
|
|
NM_012213.3(MLYCD):c.663A>G (p.Val221=)
|
|
|
|
NM_012213.3(MLYCD):c.66G>A (p.Pro22=)
|
|
|
|
NM_012213.3(MLYCD):c.674del (p.Met225fs)
|
|
|
|
NM_012213.3(MLYCD):c.675G>A (p.Met225Ile)
|
|
|
|
NM_012213.3(MLYCD):c.682A>T (p.Lys228Ter)
|
|
|
|
NM_012213.3(MLYCD):c.684G>A (p.Lys228=)
|
|
|
|
NM_012213.3(MLYCD):c.687C>T (p.Arg229=)
|
|
|
|
NM_012213.3(MLYCD):c.690C>T (p.Arg230=)
|
|
|
|
NM_012213.3(MLYCD):c.699C>T (p.Pro233=)
|
|
|
|
NM_012213.3(MLYCD):c.69C>G (p.Pro23=)
|
|
|
|
NM_012213.3(MLYCD):c.702C>T (p.Tyr234=)
|
|
|
|
NM_012213.3(MLYCD):c.708G>A (p.Arg236=)
|
|
|
|
NM_012213.3(MLYCD):c.717C>T (p.Phe239=)
|
|
|
|
NM_012213.3(MLYCD):c.721del (p.Ser241fs)
|
|
|
|
NM_012213.3(MLYCD):c.722C>G (p.Ser241Cys)
|
|
|
|
NM_012213.3(MLYCD):c.723T>G (p.Ser241=)
|
|
|
|
NM_012213.3(MLYCD):c.726C>G (p.His242Gln)
|
|
|
|
NM_012213.3(MLYCD):c.72G>A (p.Gly24=)
|
|
|
|
NM_012213.3(MLYCD):c.72G>T (p.Gly24=)
|
|
|
|
NM_012213.3(MLYCD):c.743_753dup (p.Val252fs)
|
|
|
|
NM_012213.3(MLYCD):c.744G>A (p.Glu248=)
|
|
|
|
NM_012213.3(MLYCD):c.744G>C (p.Glu248Asp)
|
rs202012613
|
|
|
NM_012213.3(MLYCD):c.744G>T (p.Glu248Asp)
|
|
|
|
NM_012213.3(MLYCD):c.750G>A (p.Leu250=)
|
|
|
|
NM_012213.3(MLYCD):c.750G>C (p.Leu250=)
|
|
|
|
NM_012213.3(MLYCD):c.753C>T (p.Val251=)
|
|
|
|
NM_012213.3(MLYCD):c.754G>A (p.Val252Ile)
|
rs1555538351
|
|
|
NM_012213.3(MLYCD):c.758del (p.Leu253fs)
|
rs757983774
|
|
|
NM_012213.3(MLYCD):c.769C>T (p.Leu257=)
|
|
|
|
NM_012213.3(MLYCD):c.76C>A (p.Arg26=)
|
|
|
|
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)
|
|
|
|
NM_012213.3(MLYCD):c.786C>G (p.Ser262=)
|
|
|
|
NM_012213.3(MLYCD):c.789C>T (p.Ser263=)
|
|
|
|
NM_012213.3(MLYCD):c.793A>G (p.Ile265Val)
|
|
|
|
NM_012213.3(MLYCD):c.796dup (p.Gln266fs)
|
|
|
|
NM_012213.3(MLYCD):c.798+11T>C
|
|
|
|
NM_012213.3(MLYCD):c.798+17A>G
|
|
|
|
NM_012213.3(MLYCD):c.798+17A>T
|
|
|
|
NM_012213.3(MLYCD):c.798+20C>T
|
|
|
|
NM_012213.3(MLYCD):c.798+9G>C
|
|
|
|
NM_012213.3(MLYCD):c.799-19C>A
|
|
|
|
NM_012213.3(MLYCD):c.799-2A>G
|
|
|
|
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)
|
|
|
|
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe)
|
|
|
|
NM_012213.3(MLYCD):c.805G>A (p.Val269Met)
|
|
|
|
NM_012213.3(MLYCD):c.813A>G (p.Glu271=)
|
|
|
|
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr)
|
rs112428248
|
|
|
NM_012213.3(MLYCD):c.822A>C (p.Pro274=)
|
|
|
|
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln)
|
|
|
|
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile)
|
|
|
|
NM_012213.3(MLYCD):c.837G>A (p.Glu279=)
|
|
|
|
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del)
|
|
|
|
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys)
|
|
|
|
NM_012213.3(MLYCD):c.849C>T (p.Ile283=)
|
|
|
|
NM_012213.3(MLYCD):c.84G>T (p.Ala28=)
|
|
|
|
NM_012213.3(MLYCD):c.858G>A (p.Ala286=)
|
|
|
|
NM_012213.3(MLYCD):c.858G>C (p.Ala286=)
|
|
|
|
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val)
|
|
|
|
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)
|
|
|
|
NM_012213.3(MLYCD):c.861C>A (p.Ile287=)
|
rs957509653
|
|
|
NM_012213.3(MLYCD):c.861C>T (p.Ile287=)
|
|
|
|
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu)
|
|
|
|
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe)
|
|
|
|
NM_012213.3(MLYCD):c.870C>T (p.Ser290=)
|
|
|
|
NM_012213.3(MLYCD):c.873C>T (p.Ile291=)
|
|
|
|
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn)
|
rs139159660
|
|
|
NM_012213.3(MLYCD):c.875del (p.Ser292fs)
|
|
|
|
NM_012213.3(MLYCD):c.876C>T (p.Ser292=)
|
|
|
|
NM_012213.3(MLYCD):c.897A>G (p.Gln299=)
|
|
|
|
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val)
|
rs121908081
|
|
|
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys)
|
|
|
|
NM_012213.3(MLYCD):c.906G>A (p.Glu302=)
|
|
|
|
NM_012213.3(MLYCD):c.910G>T (p.Gly304Ter)
|
|
|
|
NM_012213.3(MLYCD):c.921C>G (p.Leu307=)
|
|
|
|
NM_012213.3(MLYCD):c.921C>T (p.Leu307=)
|
|
|
|
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)
|
rs146465073
|
|
|
NM_012213.3(MLYCD):c.930A>C (p.Arg310=)
|
|
|
|
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile)
|
|
|
|
NM_012213.3(MLYCD):c.936C>T (p.Val312=)
|
|
|
|
NM_012213.3(MLYCD):c.93G>A (p.Gln31=)
|
|
|
|
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp)
|
|
|
|
NM_012213.3(MLYCD):c.948+11C>G
|
|
|
|
NM_012213.3(MLYCD):c.948+12G>A
|
|
|
|
NM_012213.3(MLYCD):c.948+12G>T
|
|
|
|
NM_012213.3(MLYCD):c.948+17G>T
|
|
|
|
NM_012213.3(MLYCD):c.948+19G>A
|
|
|
|
NM_012213.3(MLYCD):c.948+20C>T
|
|
|
|
NM_012213.3(MLYCD):c.948+8A>G
|
rs2151058806
|
|
|
NM_012213.3(MLYCD):c.948+9C>T
|
rs2151058807
|
|
|
NM_012213.3(MLYCD):c.949-10T>C
|
|
|
|
NM_012213.3(MLYCD):c.949-11A>G
|
|
|
|
NM_012213.3(MLYCD):c.949-13C>T
|
|
|
|
NM_012213.3(MLYCD):c.949-16C>T
|
|
|
|
NM_012213.3(MLYCD):c.949-17C>G
|
|
|
|
NM_012213.3(MLYCD):c.949-17C>T
|
|
|
|
NM_012213.3(MLYCD):c.949-19C>T
|
|
|
|
NM_012213.3(MLYCD):c.949-5T>C
|
|
|
|
NM_012213.3(MLYCD):c.949-9G>C
|
|
|
|
NM_012213.3(MLYCD):c.96G>A (p.Ala32=)
|
|
|
|
NM_012213.3(MLYCD):c.972G>A (p.Val324=)
|
|
|
|
NM_012213.3(MLYCD):c.984G>T (p.Leu328=)
|
rs765416276
|
|
|
NM_012213.3(MLYCD):c.9C>G (p.Gly3=)
|
|
|
|
NM_012213.3(MLYCD):c.9C>T (p.Gly3=)
|
rs1417139377
|
|
|
NM_014251.3(SLC25A13):c.1000C>T (p.Leu334=)
|
rs769297213
|
|
|
NM_014251.3(SLC25A13):c.1008T>C (p.Ser336=)
|
rs780663014
|
|
|
NM_014251.3(SLC25A13):c.1012G>C (p.Ala338Pro)
|
rs2116631318
|
|
|
NM_014251.3(SLC25A13):c.1018+8A>G
|
rs2116631280
|
|
|
NM_014251.3(SLC25A13):c.1018+9T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1019-12G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1019-20A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1019-7A>C
|
|
|
|
NM_014251.3(SLC25A13):c.1020T>C (p.Ala340=)
|
|
|
|
NM_014251.3(SLC25A13):c.1029C>A (p.Ala343=)
|
rs747945892
|
|
|
NM_014251.3(SLC25A13):c.1038G>A (p.Val346=)
|
rs2116629531
|
|
|
NM_014251.3(SLC25A13):c.1053T>C (p.Leu351=)
|
|
|
|
NM_014251.3(SLC25A13):c.1056A>G (p.Val352=)
|
|
|
|
NM_014251.3(SLC25A13):c.1063C>G (p.Arg355Gly)
|
rs758827458
|
|
|
NM_014251.3(SLC25A13):c.1075C>T (p.Gln359Ter)
|
rs1794541339
|
|
|
NM_014251.3(SLC25A13):c.1077A>G (p.Gln359=)
|
rs2116629319
|
|
|
NM_014251.3(SLC25A13):c.1078C>A (p.Arg360=)
|
rs80338721
|
|
|
NM_014251.3(SLC25A13):c.107C>G (p.Ser36Cys)
|
rs1447976736
|
|
|
NM_014251.3(SLC25A13):c.1080A>G (p.Arg360=)
|
|
|
|
NM_014251.3(SLC25A13):c.1084A>G (p.Thr362Ala)
|
|
|
|
NM_014251.3(SLC25A13):c.108C>G (p.Ser36=)
|
rs896670252
|
|
|
NM_014251.3(SLC25A13):c.1095del (p.Phe365fs)
|
rs1794540164
|
|
|
NM_014251.3(SLC25A13):c.1104A>G (p.Glu368=)
|
rs2116629184
|
|
|
NM_014251.3(SLC25A13):c.1107C>A (p.Leu369=)
|
rs1372631359
|
|
|
NM_014251.3(SLC25A13):c.1107C>T (p.Leu369=)
|
rs1372631359
|
|
|
NM_014251.3(SLC25A13):c.110C>G (p.Pro37Arg)
|
|
|
|
NM_014251.3(SLC25A13):c.111C>T (p.Pro37=)
|
|
|
|
NM_014251.3(SLC25A13):c.111del (p.Asn38fs)
|
rs2116939333
|
|
|
NM_014251.3(SLC25A13):c.1143G>A (p.Val381=)
|
rs2116629012
|
|
|
NM_014251.3(SLC25A13):c.1151A>T (p.Tyr384Phe)
|
rs1197228945
|
|
|
NM_014251.3(SLC25A13):c.1158C>G (p.Gly386=)
|
|
|
|
NM_014251.3(SLC25A13):c.1164del (p.Phe388fs)
|
|
|
|
NM_014251.3(SLC25A13):c.1173dup (p.Arg392Ter)
|
rs1794536022
|
|
|
NM_014251.3(SLC25A13):c.1177+12A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1177+15C>G
|
|
|
|
NM_014251.3(SLC25A13):c.1177+17C>G
|
|
|
|
NM_014251.3(SLC25A13):c.1177+17C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1177+7G>A
|
rs1330614401
|
|
|
NM_014251.3(SLC25A13):c.1178-13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1178-19A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1178-1G>C
|
|
|
|
NM_014251.3(SLC25A13):c.1178-1G>T
|
rs1794001446
|
|
|
NM_014251.3(SLC25A13):c.117C>T (p.Asp39=)
|
rs2116939283
|
|
|
NM_014251.3(SLC25A13):c.1182G>C (p.Leu394=)
|
|
|
|
NM_014251.3(SLC25A13):c.1193del (p.Leu398fs)
|
|
|
|
NM_014251.3(SLC25A13):c.1195T>C (p.Leu399=)
|
|
|
|
NM_014251.3(SLC25A13):c.1196T>A (p.Leu399Ter)
|
rs1004549438
|
|
|
NM_014251.3(SLC25A13):c.1206C>T (p.Ala402=)
|
rs774051691
|
|
|
NM_014251.3(SLC25A13):c.1228dup (p.Thr410fs)
|
rs1286193203
|
|
|
NM_014251.3(SLC25A13):c.1230+15T>G
|
|
|
|
NM_014251.3(SLC25A13):c.1230+18G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1230+18G>C
|
|
|
|
NM_014251.3(SLC25A13):c.1230+1G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1230+20G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1230+20G>C
|
|
|
|
NM_014251.3(SLC25A13):c.1230+7C>G
|
|
|
|
NM_014251.3(SLC25A13):c.1231-14T>A
|
|
|
|
NM_014251.3(SLC25A13):c.1231-20T>A
|
|
|
|
NM_014251.3(SLC25A13):c.1245G>A (p.Val415=)
|
|
|
|
NM_014251.3(SLC25A13):c.1248G>A (p.Arg416=)
|
|
|
|
NM_014251.3(SLC25A13):c.124del (p.Thr42fs)
|
rs2116939236
|
|
|
NM_014251.3(SLC25A13):c.1251T>C (p.Asp417=)
|
|
|
|
NM_014251.3(SLC25A13):c.1254A>G (p.Lys418=)
|
rs1584404332
|
|
|
NM_014251.3(SLC25A13):c.1256T>G (p.Phe419Cys)
|
rs2116577055
|
|
|
NM_014251.3(SLC25A13):c.1258del (p.Met420fs)
|
|
|
|
NM_014251.3(SLC25A13):c.1263C>T (p.His421=)
|
rs1793936845
|
|
|
NM_014251.3(SLC25A13):c.1269T>C (p.Asp423=)
|
rs2116576946
|
|
|
NM_014251.3(SLC25A13):c.1274C>T (p.Ser425Leu)
|
|
|
|
NM_014251.3(SLC25A13):c.1278C>T (p.Val426=)
|
rs1584404250
|
|
|
NM_014251.3(SLC25A13):c.129A>T (p.Arg43=)
|
|
|
|
NM_014251.3(SLC25A13):c.1307G>A (p.Gly436Asp)
|
|
|
|
NM_014251.3(SLC25A13):c.1311+1G>C
|
|
|
|
NM_014251.3(SLC25A13):c.1311+8C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1311+9C>T
|
rs2116576668
|
|
|
NM_014251.3(SLC25A13):c.1311C>A (p.Cys437Ter)
|
rs879255502
|
|
|
NM_014251.3(SLC25A13):c.1312-12del
|
rs771217878
|
|
|
NM_014251.3(SLC25A13):c.1312-13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1316G>A (p.Gly439Glu)
|
|
|
|
NM_014251.3(SLC25A13):c.1324C>T (p.Gln442Ter)
|
rs2116482158
|
|
|
NM_014251.3(SLC25A13):c.132C>G (p.Tyr44Ter)
|
rs2116939192
|
|
|
NM_014251.3(SLC25A13):c.1340A>G (p.Asn447Ser)
|
|
|
|
NM_014251.3(SLC25A13):c.1345T>C (p.Leu449=)
|
|
|
|
NM_014251.3(SLC25A13):c.135G>C (p.Leu45Phe)
|
rs1798490375
|
|
|
NM_014251.3(SLC25A13):c.1362C>A (p.Ile454=)
|
|
|
|
NM_014251.3(SLC25A13):c.1375del (p.Ala459fs)
|
rs1178306013
|
|
|
NM_014251.3(SLC25A13):c.1377A>G (p.Ala459=)
|
rs2116481872
|
|
|
NM_014251.3(SLC25A13):c.1399C>T (p.Arg467Ter)
|
rs540149539
|
|
|
NM_014251.3(SLC25A13):c.1400G>A (p.Arg467Gln)
|
|
|
|
NM_014251.3(SLC25A13):c.1410T>G (p.Ala470=)
|
rs2116481670
|
|
|
NM_014251.3(SLC25A13):c.1410_1411delinsCT (p.Ala470_Leu471=)
|
rs2116481663
|
|
|
NM_014251.3(SLC25A13):c.1411C>G (p.Leu471Val)
|
|
|
|
NM_014251.3(SLC25A13):c.1411C>T (p.Leu471=)
|
rs1379185703
|
|
|
NM_014251.3(SLC25A13):c.1413G>T (p.Leu471=)
|
rs780063972
|
|
|
NM_014251.3(SLC25A13):c.1415C>T (p.Ser472Phe)
|
rs749990010
|
|
|
NM_014251.3(SLC25A13):c.1416_1419del (p.Val473fs)
|
rs773624358
|
|
|
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)
|
rs554809009
|
|
|
NM_014251.3(SLC25A13):c.1420G>C (p.Val474Leu)
|
|
|
|
NM_014251.3(SLC25A13):c.1424G>A (p.Arg475Gln)
|
|
|
|
NM_014251.3(SLC25A13):c.1425G>A (p.Arg475=)
|
rs761211929
|
|
|
NM_014251.3(SLC25A13):c.1431G>C (p.Leu477=)
|
|
|
|
NM_014251.3(SLC25A13):c.1433G>A (p.Gly478Glu)
|
rs1792802405
|
|
|
NM_014251.3(SLC25A13):c.1448A>G (p.Tyr483Cys)
|
|
|
|
NM_014251.3(SLC25A13):c.1449C>A (p.Tyr483Ter)
|
rs1792801432
|
|
|
NM_014251.3(SLC25A13):c.1449C>T (p.Tyr483=)
|
|
|
|
NM_014251.3(SLC25A13):c.1452+18T>G
|
|
|
|
NM_014251.3(SLC25A13):c.1452+19T>G
|
|
|
|
NM_014251.3(SLC25A13):c.1452+1G>A
|
rs2116481274
|
|
|
NM_014251.3(SLC25A13):c.1452+20A>T
|
|
|
|
NM_014251.3(SLC25A13):c.1452+20del
|
|
|
|
NM_014251.3(SLC25A13):c.1452+9_1452+10insG
|
rs771592795
|
|
|
NM_014251.3(SLC25A13):c.1453-11C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1453-17C>A
|
|
|
|
NM_014251.3(SLC25A13):c.1453-1G>A
|
rs1792048079
|
|
|
NM_014251.3(SLC25A13):c.1453-2A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1453-2A>T
|
rs2116426311
|
|
|
NM_014251.3(SLC25A13):c.1453-3C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1453-4G>T
|
|
|
|
NM_014251.3(SLC25A13):c.1453-7T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1464A>C (p.Ala488=)
|
rs1244207348
|
|
|
NM_014251.3(SLC25A13):c.1464A>G (p.Ala488=)
|
rs1244207348
|
|
|
NM_014251.3(SLC25A13):c.1467C>T (p.Cys489=)
|
|
|
|
NM_014251.3(SLC25A13):c.1473G>A (p.Leu491=)
|
|
|
|
NM_014251.3(SLC25A13):c.1486_1489del (p.Phe496fs)
|
rs756182703
|
|
|
NM_014251.3(SLC25A13):c.1491G>A (p.Ser497=)
|
|
|
|
NM_014251.3(SLC25A13):c.1495A>G (p.Ile499Val)
|
rs1388764303
|
|
|
NM_014251.3(SLC25A13):c.15+15G>C
|
|
|
|
NM_014251.3(SLC25A13):c.15+2T>C
|
|
|
|
NM_014251.3(SLC25A13):c.15+7G>A
|
|
|
|
NM_014251.3(SLC25A13):c.15+8C>T
|
|
|
|
NM_014251.3(SLC25A13):c.15+9G>A
|
rs1044447024
|
|
|
NM_014251.3(SLC25A13):c.1509C>T (p.Cys503=)
|
rs2116425913
|
|
|
NM_014251.3(SLC25A13):c.1515T>C (p.Ala505=)
|
rs1198514509
|
|
|
NM_014251.3(SLC25A13):c.1524G>A (p.Lys508=)
|
rs1792043109
|
|
|
NM_014251.3(SLC25A13):c.152del (p.Ser51fs)
|
|
|
|
NM_014251.3(SLC25A13):c.153C>T (p.Ser51=)
|
rs1584551771
|
|
|
NM_014251.3(SLC25A13):c.1548G>A (p.Gly516=)
|
rs750610043
|
|
|
NM_014251.3(SLC25A13):c.1567C>T (p.Leu523=)
|
rs2116425512
|
|
|
NM_014251.3(SLC25A13):c.1569G>C (p.Leu523=)
|
rs1792040536
|
|
|
NM_014251.3(SLC25A13):c.1572C>T (p.Leu524=)
|
|
|
|
NM_014251.3(SLC25A13):c.1578T>G (p.Ala526=)
|
|
|
|
NM_014251.3(SLC25A13):c.1581T>G (p.Gly527=)
|
rs1792040031
|
|
|
NM_014251.3(SLC25A13):c.1591+10C>G
|
rs1457922451
|
|
|
NM_014251.3(SLC25A13):c.1591+10C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1591+11C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1591+13C>A
|
|
|
|
NM_014251.3(SLC25A13):c.1591+14A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1591+17G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1591+19G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1591+4A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1591+7G>A
|
rs1562782419
|
|
|
NM_014251.3(SLC25A13):c.1591+9C>G
|
|
|
|
NM_014251.3(SLC25A13):c.1591+9C>T
|
rs1183597028
|
|
|
NM_014251.3(SLC25A13):c.1592-13G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1592-13_1592-12del
|
|
|
|
NM_014251.3(SLC25A13):c.1592-14T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1592-15G>T
|
|
|
|
NM_014251.3(SLC25A13):c.1592-20G>T
|
|
|
|
NM_014251.3(SLC25A13):c.1592-4G>T
|
|
|
|
NM_014251.3(SLC25A13):c.1592-7C>T
|
rs2116384875
|
|
|
NM_014251.3(SLC25A13):c.1592-9C>G
|
|
|
|
NM_014251.3(SLC25A13):c.1592-9C>T
|
rs2116384900
|
|
|
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)
|
rs80338724
|
|
|
NM_014251.3(SLC25A13):c.159T>C (p.Pro53=)
|
rs767377944
|
|
|
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)
|
rs80338715
|
|
|
NM_014251.3(SLC25A13):c.16-10T>C
|
|
|
|
NM_014251.3(SLC25A13):c.16-12G>A
|
|
|
|
NM_014251.3(SLC25A13):c.16-12G>T
|
|
|
|
NM_014251.3(SLC25A13):c.16-14_16-13del
|
|
|
|
NM_014251.3(SLC25A13):c.16-2A>G
|
rs1799374421
|
|
|
NM_014251.3(SLC25A13):c.16-8A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1602A>G (p.Ala534=)
|
|
|
|
NM_014251.3(SLC25A13):c.1603_1609dup (p.Leu537fs)
|
rs1791532136
|
|
|
NM_014251.3(SLC25A13):c.1605A>G (p.Ala535=)
|
|
|
|
NM_014251.3(SLC25A13):c.1608T>C (p.Ser536=)
|
rs768148130
|
|
|
NM_014251.3(SLC25A13):c.1610del (p.Ser536_Leu537insTer)
|
rs750225643
|
|
|
NM_014251.3(SLC25A13):c.1611A>G (p.Leu537=)
|
|
|
|
NM_014251.3(SLC25A13):c.1612del (p.Leu537_Val538insTer)
|
rs2116384695
|
|
|
NM_014251.3(SLC25A13):c.1617C>G (p.Thr539=)
|
|
|
|
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
|
|
|
|
NM_014251.3(SLC25A13):c.1633_1637dup (p.Leu548fs)
|
rs2116384455
|
|
|
NM_014251.3(SLC25A13):c.1635G>A (p.Lys545=)
|
rs756177534
|
|
|
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
|
NM_014251.3(SLC25A13):c.1643T>G (p.Leu548Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.1644A>G (p.Leu548=)
|
rs1226619904
|
|
|
NM_014251.3(SLC25A13):c.1647G>A (p.Gln549=)
|
rs2116384374
|
|
|
NM_014251.3(SLC25A13):c.1650G>T (p.Val550=)
|
rs2116384346
|
|
|
NM_014251.3(SLC25A13):c.1653T>C (p.Ala551=)
|
rs2116384330
|
|
|
NM_014251.3(SLC25A13):c.1653_1655del (p.Ala552del)
|
rs781077173
|
|
|
NM_014251.3(SLC25A13):c.1656C>T (p.Ala552=)
|
rs765072433
|
|
|
NM_014251.3(SLC25A13):c.1658_1661dup (p.Gln556fs)
|
rs2116384200
|
|
|
NM_014251.3(SLC25A13):c.1662T>C (p.Ala554=)
|
rs2116384173
|
|
|
NM_014251.3(SLC25A13):c.1666_1842-31del
|
rs2116381204
|
|
|
NM_014251.3(SLC25A13):c.1668A>G (p.Gln556=)
|
|
|
|
NM_014251.3(SLC25A13):c.1676dup (p.Tyr559Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.1677C>A (p.Tyr559Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.1689A>T (p.Ile563=)
|
rs2116383941
|
|
|
NM_014251.3(SLC25A13):c.168G>A (p.Lys56=)
|
|
|
|
NM_014251.3(SLC25A13):c.1712G>A (p.Arg571His)
|
|
|
|
NM_014251.3(SLC25A13):c.1712del (p.Arg571fs)
|
rs1554335461
|
|
|
NM_014251.3(SLC25A13):c.1722A>T (p.Gly574=)
|
rs760315798
|
|
|
NM_014251.3(SLC25A13):c.1725A>G (p.Pro575=)
|
|
|
|
NM_014251.3(SLC25A13):c.1725A>T (p.Pro575=)
|
|
|
|
NM_014251.3(SLC25A13):c.173_174del (p.Val58fs)
|
rs1798487766
|
|
|
NM_014251.3(SLC25A13):c.1740G>A (p.Lys580=)
|
rs1791522939
|
|
|
NM_014251.3(SLC25A13):c.1750+13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1750+14G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1750+16G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1750+18T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1750+1G>C
|
rs771583670
|
|
|
NM_014251.3(SLC25A13):c.1750+2T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1751-12_1751-10del
|
rs752982681
|
|
|
NM_014251.3(SLC25A13):c.1751-21G>A
|
|
|
|
NM_014251.3(SLC25A13):c.1751-22T>C
|
rs2116383375
|
|
|
NM_014251.3(SLC25A13):c.1751-23G>T
|
|
|
|
NM_014251.3(SLC25A13):c.1751-26T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1751-27A>G
|
rs368163332
|
|
|
NM_014251.3(SLC25A13):c.1751-27A>T
|
rs368163332
|
|
|
NM_014251.3(SLC25A13):c.1751-28T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1751-5_1751-4insGATTTCTCCATTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCCCCCGCCCCCCGAGCCCGAACCCCTTTCCACTGCCAACACCTCACCTCGCCCCCGCCGCCATCTTCCTCCTCCCTTGGCAGCCCCGCCCCCC
|
|
|
|
NM_014251.3(SLC25A13):c.1751-5del
|
rs1173610818
|
|
|
NM_014251.3(SLC25A13):c.1751-7T>C
|
rs2116383263
|
|
|
NM_014251.3(SLC25A13):c.1751-9T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1751-9T>G
|
|
|
|
NM_014251.3(SLC25A13):c.175del (p.Glu59fs)
|
|
|
|
NM_014251.3(SLC25A13):c.1769C>A (p.Ser590Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.1788T>C (p.Thr596=)
|
|
|
|
NM_014251.3(SLC25A13):c.1789T>C (p.Leu597=)
|
|
|
|
NM_014251.3(SLC25A13):c.1797T>A (p.Thr599=)
|
rs757177279
|
|
|
NM_014251.3(SLC25A13):c.1797T>G (p.Thr599=)
|
|
|
|
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)
|
rs80338727
|
|
|
NM_014251.3(SLC25A13):c.1806G>A (p.Leu602=)
|
rs2116382744
|
|
|
NM_014251.3(SLC25A13):c.1809A>G (p.Leu603=)
|
rs755823140
|
|
|
NM_014251.3(SLC25A13):c.1812G>A (p.Gln604=)
|
|
|
|
NM_014251.3(SLC25A13):c.1818G>T (p.Trp606Cys)
|
rs893906065
|
|
|
NM_014251.3(SLC25A13):c.1833del (p.Phe611fs)
|
rs1791512056
|
|
|
NM_014251.3(SLC25A13):c.1841+12G>C
|
|
|
|
NM_014251.3(SLC25A13):c.1841+13C>A
|
|
|
|
NM_014251.3(SLC25A13):c.1841+17A>G
|
|
|
|
NM_014251.3(SLC25A13):c.1841+18T>C
|
|
|
|
NM_014251.3(SLC25A13):c.1841+19C>T
|
|
|
|
NM_014251.3(SLC25A13):c.1841+3_1841+4del
|
|
|
|
NM_014251.3(SLC25A13):c.1841+9C>T
|
rs2116382480
|
|
|
NM_014251.3(SLC25A13):c.1845A>G (p.Lys615=)
|
rs751199034
|
|
|
NM_014251.3(SLC25A13):c.1854A>C (p.Gly618=)
|
rs760572056
|
|
|
NM_014251.3(SLC25A13):c.1894C>T (p.Pro632Ser)
|
rs2116380826
|
|
|
NM_014251.3(SLC25A13):c.1895C>T (p.Pro632Leu)
|
|
|
|
NM_014251.3(SLC25A13):c.1905T>C (p.Asp635=)
|
rs1791493740
|
|
|
NM_014251.3(SLC25A13):c.1908C>T (p.His636=)
|
rs2116380705
|
|
|
NM_014251.3(SLC25A13):c.1924C>T (p.Leu642=)
|
rs2116380508
|
|
|
NM_014251.3(SLC25A13):c.1935T>G (p.Ala645=)
|
rs1250676895
|
|
|
NM_014251.3(SLC25A13):c.1938A>G (p.Thr646=)
|
|
|
|
NM_014251.3(SLC25A13):c.1944A>C (p.Ala648=)
|
rs1791491213
|
|
|
NM_014251.3(SLC25A13):c.1955A>G (p.Asn652Ser)
|
|
|
|
NM_014251.3(SLC25A13):c.195G>A (p.Val65=)
|
rs2116938852
|
|
|
NM_014251.3(SLC25A13):c.1971C>T (p.Tyr657=)
|
|
|
|
NM_014251.3(SLC25A13):c.1972C>T (p.Leu658=)
|
rs1791489001
|
|
|
NM_014251.3(SLC25A13):c.1977T>C (p.Pro659=)
|
|
|
|
NM_014251.3(SLC25A13):c.1983C>T (p.Phe661=)
|
rs2116380137
|
|
|
NM_014251.3(SLC25A13):c.1995A>G (p.Val665=)
|
|
|
|
NM_014251.3(SLC25A13):c.1998T>C (p.Ser666=)
|
|
|
|
NM_014251.3(SLC25A13):c.2004A>G (p.Ser668=)
|
|
|
|
NM_014251.3(SLC25A13):c.2013T>C (p.Ile671=)
|
|
|
|
NM_014251.3(SLC25A13):c.201G>A (p.Gln67=)
|
|
|
|
NM_014251.3(SLC25A13):c.2026T>C (p.Ter676Gln)
|
|
|
|
NM_014251.3(SLC25A13):c.212+13T>G
|
|
|
|
NM_014251.3(SLC25A13):c.212+14del
|
|
|
|
NM_014251.3(SLC25A13):c.213-10dup
|
rs752612661
|
|
|
NM_014251.3(SLC25A13):c.213-14_213-10del
|
rs757915456
|
|
|
NM_014251.3(SLC25A13):c.213-19T>C
|
|
|
|
NM_014251.3(SLC25A13):c.213-20A>G
|
|
|
|
NM_014251.3(SLC25A13):c.213-2A>C
|
|
|
|
NM_014251.3(SLC25A13):c.213-2A>G
|
|
|
|
NM_014251.3(SLC25A13):c.213-4G>C
|
|
|
|
NM_014251.3(SLC25A13):c.213-7G>T
|
rs2116815938
|
|
|
NM_014251.3(SLC25A13):c.21T>C (p.Ala7=)
|
rs1336480972
|
|
|
NM_014251.3(SLC25A13):c.229G>T (p.Glu77Ter)
|
rs1254503252
|
|
|
NM_014251.3(SLC25A13):c.231A>G (p.Glu77=)
|
|
|
|
NM_014251.3(SLC25A13):c.252C>G (p.Val84=)
|
rs2116815724
|
|
|
NM_014251.3(SLC25A13):c.255G>C (p.Leu85=)
|
|
|
|
NM_014251.3(SLC25A13):c.270T>A (p.Ala90=)
|
|
|
|
NM_014251.3(SLC25A13):c.270T>C (p.Ala90=)
|
|
|
|
NM_014251.3(SLC25A13):c.276T>C (p.Phe92=)
|
rs2116815561
|
|
|
NM_014251.3(SLC25A13):c.276del (p.Phe92fs)
|
rs2116815571
|
|
|
NM_014251.3(SLC25A13):c.27del (p.Lys10fs)
|
|
|
|
NM_014251.3(SLC25A13):c.294G>A (p.Leu98=)
|
|
|
|
NM_014251.3(SLC25A13):c.294G>T (p.Leu98=)
|
rs1033654356
|
|
|
NM_014251.3(SLC25A13):c.306T>C (p.Ala102=)
|
rs565008080
|
|
|
NM_014251.3(SLC25A13):c.308G>A (p.Gly103Asp)
|
rs2116815391
|
|
|
NM_014251.3(SLC25A13):c.328+10A>G
|
rs2116815256
|
|
|
NM_014251.3(SLC25A13):c.328+14T>C
|
|
|
|
NM_014251.3(SLC25A13):c.328+14T>G
|
|
|
|
NM_014251.3(SLC25A13):c.328+18G>A
|
|
|
|
NM_014251.3(SLC25A13):c.328+1G>T
|
rs1796684525
|
|
|
NM_014251.3(SLC25A13):c.328+7A>G
|
|
|
|
NM_014251.3(SLC25A13):c.328+8G>A
|
rs2116815272
|
|
|
NM_014251.3(SLC25A13):c.329-11T>C
|
|
|
|
NM_014251.3(SLC25A13):c.329-13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.329-16T>C
|
|
|
|
NM_014251.3(SLC25A13):c.329-1G>A
|
|
|
|
NM_014251.3(SLC25A13):c.329-20C>G
|
|
|
|
NM_014251.3(SLC25A13):c.329-2A>G
|
|
|
|
NM_014251.3(SLC25A13):c.329-4dup
|
rs1472181392
|
|
|
NM_014251.3(SLC25A13):c.333T>C (p.Asp111=)
|
rs1349801909
|
|
|
NM_014251.3(SLC25A13):c.357C>T (p.Thr119=)
|
|
|
|
NM_014251.3(SLC25A13):c.363del (p.His122fs)
|
|
|
|
NM_014251.3(SLC25A13):c.378A>G (p.Pro126=)
|
rs1318385882
|
|
|
NM_014251.3(SLC25A13):c.402G>A (p.Val134=)
|
rs1795572796
|
|
|
NM_014251.3(SLC25A13):c.415G>A (p.Gly139Arg)
|
rs1269555090
|
|
|
NM_014251.3(SLC25A13):c.415_428del (p.Gly139fs)
|
|
|
|
NM_014251.3(SLC25A13):c.416G>A (p.Gly139Glu)
|
|
|
|
NM_014251.3(SLC25A13):c.420del (p.Glu141fs)
|
rs1562844289
|
|
|
NM_014251.3(SLC25A13):c.429_430del (p.Arg144fs)
|
rs2116717319
|
|
|
NM_014251.3(SLC25A13):c.42A>C (p.Pro14=)
|
|
|
|
NM_014251.3(SLC25A13):c.438G>T (p.Leu146=)
|
rs140121008
|
|
|
NM_014251.3(SLC25A13):c.444T>C (p.Tyr148=)
|
rs1179803348
|
|
|
NM_014251.3(SLC25A13):c.453T>C (p.Phe151=)
|
|
|
|
NM_014251.3(SLC25A13):c.457C>T (p.Gln153Ter)
|
rs2116717136
|
|
|
NM_014251.3(SLC25A13):c.466T>C (p.Leu156=)
|
rs1795568578
|
|
|
NM_014251.3(SLC25A13):c.468+10G>C
|
|
|
|
NM_014251.3(SLC25A13):c.468+11C>A
|
|
|
|
NM_014251.3(SLC25A13):c.468+11C>T
|
|
|
|
NM_014251.3(SLC25A13):c.468+19_468+20insT
|
|
|
|
NM_014251.3(SLC25A13):c.468+7C>T
|
|
|
|
NM_014251.3(SLC25A13):c.468+8T>A
|
rs1436723624
|
|
|
NM_014251.3(SLC25A13):c.469-12C>A
|
|
|
|
NM_014251.3(SLC25A13):c.469-12_469-9del
|
|
|
|
NM_014251.3(SLC25A13):c.469-13T>G
|
|
|
|
NM_014251.3(SLC25A13):c.469-13del
|
|
|
|
NM_014251.3(SLC25A13):c.469-14T>A
|
|
|
|
NM_014251.3(SLC25A13):c.469-17A>C
|
|
|
|
NM_014251.3(SLC25A13):c.469-17A>G
|
|
|
|
NM_014251.3(SLC25A13):c.469-17A>T
|
|
|
|
NM_014251.3(SLC25A13):c.469-19T>C
|
|
|
|
NM_014251.3(SLC25A13):c.469-2A>G
|
|
|
|
NM_014251.3(SLC25A13):c.471A>G (p.Glu157=)
|
|
|
|
NM_014251.3(SLC25A13):c.475C>T (p.Gln159Ter)
|
rs2116663520
|
|
|
NM_014251.3(SLC25A13):c.477A>G (p.Gln159=)
|
rs2116663498
|
|
|
NM_014251.3(SLC25A13):c.486C>T (p.His162=)
|
rs1562831788
|
|
|
NM_014251.3(SLC25A13):c.48G>A (p.Glu16=)
|
|
|
|
NM_014251.3(SLC25A13):c.492G>A (p.Lys164=)
|
rs2116663375
|
|
|
NM_014251.3(SLC25A13):c.493C>T (p.Gln165Ter)
|
rs1562831765
|
|
|
NM_014251.3(SLC25A13):c.504G>A (p.Val168=)
|
|
|
|
NM_014251.3(SLC25A13):c.508C>A (p.Arg170=)
|
|
|
|
NM_014251.3(SLC25A13):c.517G>T (p.Ala173Ser)
|
rs1387446179
|
|
|
NM_014251.3(SLC25A13):c.528G>A (p.Gly176=)
|
|
|
|
NM_014251.3(SLC25A13):c.528dup (p.Arg177fs)
|
rs1794924933
|
|
|
NM_014251.3(SLC25A13):c.534C>G (p.Val178=)
|
|
|
|
NM_014251.3(SLC25A13):c.535dup (p.Thr179fs)
|
|
|
|
NM_014251.3(SLC25A13):c.537A>C (p.Thr179=)
|
|
|
|
NM_014251.3(SLC25A13):c.53G>C (p.Arg18Thr)
|
|
|
|
NM_014251.3(SLC25A13):c.543C>A (p.Ile181=)
|
rs370372951
|
|
|
NM_014251.3(SLC25A13):c.550del (p.Arg184fs)
|
|
|
|
NM_014251.3(SLC25A13):c.564C>T (p.Val188=)
|
|
|
|
NM_014251.3(SLC25A13):c.567C>T (p.Thr189=)
|
rs2116662877
|
|
|
NM_014251.3(SLC25A13):c.571del (p.Arg191fs)
|
rs1482630982
|
|
|
NM_014251.3(SLC25A13):c.573C>T (p.Arg191=)
|
|
|
|
NM_014251.3(SLC25A13):c.580G>A (p.Val194Ile)
|
|
|
|
NM_014251.3(SLC25A13):c.582C>A (p.Val194=)
|
rs1311802793
|
|
|
NM_014251.3(SLC25A13):c.582C>G (p.Val194=)
|
|
|
|
NM_014251.3(SLC25A13):c.595G>A (p.Val199Ile)
|
rs2116662640
|
|
|
NM_014251.3(SLC25A13):c.597A>G (p.Val199=)
|
|
|
|
NM_014251.3(SLC25A13):c.605_608dup (p.Val204fs)
|
rs762941850
|
|
|
NM_014251.3(SLC25A13):c.607_611dup (p.Val204_Ala205insTer)
|
rs1794918929
|
|
|
NM_014251.3(SLC25A13):c.60A>T (p.Ile20=)
|
rs745497684
|
|
|
NM_014251.3(SLC25A13):c.614C>T (p.Ala205Val)
|
rs1562831497
|
|
|
NM_014251.3(SLC25A13):c.615+13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.615+15G>T
|
|
|
|
NM_014251.3(SLC25A13):c.615+19T>C
|
|
|
|
NM_014251.3(SLC25A13):c.615+1G>A
|
|
|
|
NM_014251.3(SLC25A13):c.615+8G>T
|
rs557575818
|
|
|
NM_014251.3(SLC25A13):c.616-15T>C
|
|
|
|
NM_014251.3(SLC25A13):c.624A>C (p.Gly208=)
|
|
|
|
NM_014251.3(SLC25A13):c.633A>C (p.Thr211=)
|
rs1794836188
|
|
|
NM_014251.3(SLC25A13):c.633A>G (p.Thr211=)
|
|
|
|
NM_014251.3(SLC25A13):c.640C>T (p.Gln214Ter)
|
rs2116656505
|
|
|
NM_014251.3(SLC25A13):c.654C>T (p.Ser218=)
|
rs1794834839
|
|
|
NM_014251.3(SLC25A13):c.65_66insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAATATTTTT (p.Leu22delinsPhePhePhePhePhePhePheXaaXaaXaaXaaProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_014251.3(SLC25A13):c.663T>C (p.Asn221=)
|
rs1794834417
|
|
|
NM_014251.3(SLC25A13):c.666A>T (p.Gly222=)
|
|
|
|
NM_014251.3(SLC25A13):c.66G>A (p.Leu22=)
|
rs2116994800
|
|
|
NM_014251.3(SLC25A13):c.66_67insC (p.Lys23fs)
|
rs1255908000
|
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
|
NM_014251.3(SLC25A13):c.675G>T (p.Ser225=)
|
rs78247004
|
|
|
NM_014251.3(SLC25A13):c.678C>G (p.Leu226=)
|
rs760655625
|
|
|
NM_014251.3(SLC25A13):c.687del (p.Asn229fs)
|
|
|
|
NM_014251.3(SLC25A13):c.688A>G (p.Met230Val)
|
rs767411822
|
|
|
NM_014251.3(SLC25A13):c.69+12G>A
|
|
|
|
NM_014251.3(SLC25A13):c.69+15A>G
|
|
|
|
NM_014251.3(SLC25A13):c.69+5G>C
|
|
|
|
NM_014251.3(SLC25A13):c.69+7A>G
|
|
|
|
NM_014251.3(SLC25A13):c.693A>G (p.Glu231=)
|
|
|
|
NM_014251.3(SLC25A13):c.70-12_72del
|
|
|
|
NM_014251.3(SLC25A13):c.70-13T>G
|
|
|
|
NM_014251.3(SLC25A13):c.70-14dup
|
rs751240780
|
|
|
NM_014251.3(SLC25A13):c.70-17T>A
|
|
|
|
NM_014251.3(SLC25A13):c.70-18T>C
|
|
|
|
NM_014251.3(SLC25A13):c.70-1G>T
|
rs962082210
|
|
|
NM_014251.3(SLC25A13):c.70-4dup
|
|
|
|
NM_014251.3(SLC25A13):c.70-7T>A
|
|
|
|
NM_014251.3(SLC25A13):c.70-7T>C
|
|
|
|
NM_014251.3(SLC25A13):c.70-7del
|
rs751240780
|
|
|
NM_014251.3(SLC25A13):c.711T>C (p.Tyr237=)
|
rs886062529
|
|
|
NM_014251.3(SLC25A13):c.714C>T (p.Ser238=)
|
|
|
|
NM_014251.3(SLC25A13):c.729C>G (p.Thr243=)
|
|
|
|
NM_014251.3(SLC25A13):c.732G>A (p.Arg244=)
|
|
|
|
NM_014251.3(SLC25A13):c.744A>G (p.Glu248=)
|
|
|
|
NM_014251.3(SLC25A13):c.747G>C (p.Val249=)
|
|
|
|
NM_014251.3(SLC25A13):c.747G>T (p.Val249=)
|
|
|
|
NM_014251.3(SLC25A13):c.754+10A>C
|
|
|
|
NM_014251.3(SLC25A13):c.754+13A>T
|
|
|
|
NM_014251.3(SLC25A13):c.754+16T>G
|
|
|
|
NM_014251.3(SLC25A13):c.754+17C>T
|
|
|
|
NM_014251.3(SLC25A13):c.754+8A>C
|
|
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
|
NM_014251.3(SLC25A13):c.755-10T>C
|
|
|
|
NM_014251.3(SLC25A13):c.755-15T>G
|
|
|
|
NM_014251.3(SLC25A13):c.755-1G>C
|
|
|
|
NM_014251.3(SLC25A13):c.755-24_755-3del
|
rs746604745
|
|
|
NM_014251.3(SLC25A13):c.755-5T>C
|
rs2116650285
|
|
|
NM_014251.3(SLC25A13):c.755-7C>G
|
|
|
|
NM_014251.3(SLC25A13):c.765T>C (p.Val255=)
|
rs2116650187
|
|
|
NM_014251.3(SLC25A13):c.775C>T (p.Gln259Ter)
|
rs746155190
|
|
|
NM_014251.3(SLC25A13):c.792del (p.Thr265fs)
|
rs2116650029
|
|
|
NM_014251.3(SLC25A13):c.79A>G (p.Ile27Val)
|
rs1798494534
|
|
|
NM_014251.3(SLC25A13):c.807T>G (p.Val269=)
|
rs934024804
|
|
|
NM_014251.3(SLC25A13):c.816G>A (p.Leu272=)
|
|
|
|
NM_014251.3(SLC25A13):c.81T>C (p.Ile27=)
|
|
|
|
NM_014251.3(SLC25A13):c.848+10C>G
|
|
|
|
NM_014251.3(SLC25A13):c.848+12T>C
|
|
|
|
NM_014251.3(SLC25A13):c.848+13T>C
|
|
|
|
NM_014251.3(SLC25A13):c.848+15T>C
|
|
|
|
NM_014251.3(SLC25A13):c.848+15T>G
|
rs779039067
|
|
|
NM_014251.3(SLC25A13):c.848+1G>A
|
rs761370420
|
|
|
NM_014251.3(SLC25A13):c.848+1del
|
|
|
|
NM_014251.3(SLC25A13):c.848+8G>A
|
rs761126981
|
|
|
NM_014251.3(SLC25A13):c.848+9G>A
|
rs201395793
|
|
|
NM_014251.3(SLC25A13):c.848+9G>T
|
rs201395793
|
|
|
NM_014251.3(SLC25A13):c.849-6C>T
|
|
|
|
NM_014251.3(SLC25A13):c.850C>T (p.Arg284Cys)
|
|
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
|
NM_014251.3(SLC25A13):c.858C>T (p.Thr286=)
|
rs2116648520
|
|
|
NM_014251.3(SLC25A13):c.864A>G (p.Ala288=)
|
|
|
|
NM_014251.3(SLC25A13):c.873A>G (p.Glu291=)
|
rs1223728106
|
|
|
NM_014251.3(SLC25A13):c.874C>A (p.Arg292=)
|
|
|
|
NM_014251.3(SLC25A13):c.876G>T (p.Arg292=)
|
rs1794755283
|
|
|
NM_014251.3(SLC25A13):c.881_894del (p.Ala294fs)
|
|
|
|
NM_014251.3(SLC25A13):c.885T>A (p.Pro295=)
|
|
|
|
NM_014251.3(SLC25A13):c.885T>G (p.Pro295=)
|
|
|
|
NM_014251.3(SLC25A13):c.89dup (p.Asn30fs)
|
|
|
|
NM_014251.3(SLC25A13):c.906C>A (p.Pro302=)
|
|
|
|
NM_014251.3(SLC25A13):c.919G>T (p.Glu307Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.91G>A (p.Gly31Ser)
|
|
|
|
NM_014251.3(SLC25A13):c.930G>A (p.Arg310=)
|
|
|
|
NM_014251.3(SLC25A13):c.933+12G>A
|
|
|
|
NM_014251.3(SLC25A13):c.934-11A>C
|
|
|
|
NM_014251.3(SLC25A13):c.934-11A>G
|
|
|
|
NM_014251.3(SLC25A13):c.934-16T>C
|
|
|
|
NM_014251.3(SLC25A13):c.934-2A>T
|
rs1794574986
|
|
|
NM_014251.3(SLC25A13):c.934-7A>G
|
|
|
|
NM_014251.3(SLC25A13):c.94G>T (p.Glu32Ter)
|
rs2116939424
|
|
|
NM_014251.3(SLC25A13):c.957A>G (p.Arg319=)
|
|
|
|
NM_014251.3(SLC25A13):c.963T>C (p.Val321=)
|
|
|
|
NM_014251.3(SLC25A13):c.970C>T (p.Gln324Ter)
|
rs1012084121
|
|
|
NM_014251.3(SLC25A13):c.977C>T (p.Ala326Val)
|
|
|
|
NM_014251.3(SLC25A13):c.978A>G (p.Ala326=)
|
rs776848302
|
|
|
NM_014251.3(SLC25A13):c.979G>T (p.Glu327Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.980_981del (p.Glu327fs)
|
rs764401478
|
|
|
NM_014251.3(SLC25A13):c.990C>A (p.Tyr330Ter)
|
|
|
|
NM_014251.3(SLC25A13):c.990C>T (p.Tyr330=)
|
rs534585904
|
|
|
NM_014251.3(SLC25A13):c.9C>T (p.Ala3=)
|
rs771172427
|
|
|
NM_014252.4(SLC25A15):c.105G>T (p.Val35=)
|
rs1206882399
|
|
|
NM_014252.4(SLC25A15):c.112C>T (p.Gln38Ter)
|
|
|
|
NM_014252.4(SLC25A15):c.113_116dup (p.Phe40fs)
|
rs756522093
|
|
|
NM_014252.4(SLC25A15):c.11A>G (p.Asn4Ser)
|
|
|
|
NM_014252.4(SLC25A15):c.120C>T (p.Phe40=)
|
|
|
|
NM_014252.4(SLC25A15):c.123T>C (p.Pro41=)
|
|
|
|
NM_014252.4(SLC25A15):c.129G>A (p.Leu43=)
|
rs1881776190
|
|
|
NM_014252.4(SLC25A15):c.132C>T (p.Tyr44=)
|
rs2138045756
|
|
|
NM_014252.4(SLC25A15):c.135G>A (p.Arg45=)
|
rs2138045768
|
|
|
NM_014252.4(SLC25A15):c.138C>A (p.Gly46=)
|
rs560300254
|
|
|
NM_014252.4(SLC25A15):c.138C>T (p.Gly46=)
|
rs560300254
|
|
|
NM_014252.4(SLC25A15):c.145G>A (p.Asp49Asn)
|
rs539373322
|
|
|
NM_014252.4(SLC25A15):c.154C>T (p.Leu52=)
|
|
|
|
NM_014252.4(SLC25A15):c.156G>A (p.Leu52=)
|
|
|
|
NM_014252.4(SLC25A15):c.158A>G (p.Lys53Arg)
|
rs746560103
|
|
|
NM_014252.4(SLC25A15):c.16G>C (p.Ala6Pro)
|
|
|
|
NM_014252.4(SLC25A15):c.172G>A (p.Val58Met)
|
|
|
|
NM_014252.4(SLC25A15):c.182G>C (p.Arg61Pro)
|
rs34615430
|
|
|
NM_014252.4(SLC25A15):c.191A>T (p.Tyr64Phe)
|
|
|
|
NM_014252.4(SLC25A15):c.192C>T (p.Tyr64=)
|
rs1008259618
|
|
|
NM_014252.4(SLC25A15):c.1A>G (p.Met1Val)
|
|
|
|
NM_014252.4(SLC25A15):c.201C>A (p.Thr67=)
|
|
|
|
NM_014252.4(SLC25A15):c.207A>G (p.Pro69=)
|
|
|
|
NM_014252.4(SLC25A15):c.208_209delinsTT (p.Ala70Leu)
|
rs1064793683
|
|
|
NM_014252.4(SLC25A15):c.213A>G (p.Leu71=)
|
|
|
|
NM_014252.4(SLC25A15):c.216C>A (p.Ile72=)
|
rs572717478
|
|
|
NM_014252.4(SLC25A15):c.217G>T (p.Ala73Ser)
|
|
|
|
NM_014252.4(SLC25A15):c.21C>T (p.Ile7=)
|
rs1360586910
|
|
|
NM_014252.4(SLC25A15):c.225C>A (p.Ile75=)
|
|
|
|
NM_014252.4(SLC25A15):c.228T>C (p.Ala76=)
|
rs1881786415
|
|
|
NM_014252.4(SLC25A15):c.231G>A (p.Glu77=)
|
|
|
|
NM_014252.4(SLC25A15):c.236C>G (p.Ser79Ter)
|
rs2138045987
|
|
|
NM_014252.4(SLC25A15):c.237A>C (p.Ser79=)
|
|
|
|
NM_014252.4(SLC25A15):c.237A>G (p.Ser79=)
|
rs2138045991
|
|
|
NM_014252.4(SLC25A15):c.243C>T (p.Leu81=)
|
rs1355172390
|
|
|
NM_014252.4(SLC25A15):c.246C>T (p.Phe82=)
|
rs2138046007
|
|
|
NM_014252.4(SLC25A15):c.248T>C (p.Met83Thr)
|
|
|
|
NM_014252.4(SLC25A15):c.258C>T (p.Gly86=)
|
|
|
|
NM_014252.4(SLC25A15):c.264C>T (p.Cys88=)
|
rs2138046037
|
|
|
NM_014252.4(SLC25A15):c.286G>T (p.Ala96Ser)
|
|
|
|
NM_014252.4(SLC25A15):c.292T>C (p.Leu98=)
|
|
|
|
NM_014252.4(SLC25A15):c.294G>A (p.Leu98=)
|
|
|
|
NM_014252.4(SLC25A15):c.300G>A (p.Lys100=)
|
|
|
|
NM_014252.4(SLC25A15):c.303G>A (p.Gln101=)
|
|
|
|
NM_014252.4(SLC25A15):c.309_310delinsAT (p.Lys103_Leu104=)
|
rs2138046122
|
|
|
NM_014252.4(SLC25A15):c.310C>T (p.Leu104=)
|
|
|
|
NM_014252.4(SLC25A15):c.314+12AC[3]
|
|
|
|
NM_014252.4(SLC25A15):c.314+17C>A
|
rs1333416722
|
|
|
NM_014252.4(SLC25A15):c.314+18A>G
|
|
|
|
NM_014252.4(SLC25A15):c.314+19C>T
|
|
|
|
NM_014252.4(SLC25A15):c.314+19_314+20del
|
|
|
|
NM_014252.4(SLC25A15):c.314+24_314+26del
|
rs754389895
|
|
|
NM_014252.4(SLC25A15):c.315-12G>A
|
|
|
|
NM_014252.4(SLC25A15):c.315-12G>C
|
|
|
|
NM_014252.4(SLC25A15):c.315-12G>T
|
|
|
|
NM_014252.4(SLC25A15):c.315-14T>G
|
|
|
|
NM_014252.4(SLC25A15):c.315-17dup
|
|
|
|
NM_014252.4(SLC25A15):c.315-1G>A
|
rs2138053997
|
|
|
NM_014252.4(SLC25A15):c.315-20G>C
|
|
|
|
NM_014252.4(SLC25A15):c.315-7C>T
|
rs2138053984
|
|
|
NM_014252.4(SLC25A15):c.315-8G>A
|
|
|
|
NM_014252.4(SLC25A15):c.321G>A (p.Leu107=)
|
rs750924937
|
|
|
NM_014252.4(SLC25A15):c.321G>T (p.Leu107=)
|
|
|
|
NM_014252.4(SLC25A15):c.326_452+374del
|
|
|
|
NM_014252.4(SLC25A15):c.326del (p.Asn109fs)
|
|
|
|
NM_014252.4(SLC25A15):c.32T>C (p.Ile11Thr)
|
rs1279446692
|
|
|
NM_014252.4(SLC25A15):c.337G>T (p.Gly113Cys)
|
rs199894905
|
|
|
NM_014252.4(SLC25A15):c.338G>T (p.Gly113Val)
|
rs2138054088
|
|
|
NM_014252.4(SLC25A15):c.339T>A (p.Gly113=)
|
|
|
|
NM_014252.4(SLC25A15):c.354C>A (p.Ala118=)
|
|
|
|
NM_014252.4(SLC25A15):c.354C>T (p.Ala118=)
|
rs775654159
|
|
|
NM_014252.4(SLC25A15):c.363A>C (p.Ala121=)
|
|
|
|
NM_014252.4(SLC25A15):c.363A>G (p.Ala121=)
|
rs1882121523
|
|
|
NM_014252.4(SLC25A15):c.364C>T (p.Leu122=)
|
|
|
|
NM_014252.4(SLC25A15):c.372C>T (p.Leu124=)
|
rs1305315510
|
|
|
NM_014252.4(SLC25A15):c.387C>G (p.Leu129=)
|
|
|
|
NM_014252.4(SLC25A15):c.387C>T (p.Leu129=)
|
rs151093794
|
|
|
NM_014252.4(SLC25A15):c.391A>C (p.Lys131Gln)
|
|
|
|
NM_014252.4(SLC25A15):c.393G>A (p.Lys131=)
|
|
|
|
NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter)
|
|
|
|
NM_014252.4(SLC25A15):c.408del (p.Met137fs)
|
rs780201405
|
|
|
NM_014252.4(SLC25A15):c.423G>A (p.Glu141=)
|
|
|
|
NM_014252.4(SLC25A15):c.42A>C (p.Thr14=)
|
|
|
|
NM_014252.4(SLC25A15):c.443A>T (p.Lys148Met)
|
|
|
|
NM_014252.4(SLC25A15):c.446del (p.Ser149fs)
|
rs1566123619
|
|
|
NM_014252.4(SLC25A15):c.452+19C>T
|
|
|
|
NM_014252.4(SLC25A15):c.452+2T>C
|
rs1882127556
|
|
|
NM_014252.4(SLC25A15):c.452+7A>G
|
rs2138054291
|
|
|
NM_014252.4(SLC25A15):c.452+9C>T
|
|
|
|
NM_014252.4(SLC25A15):c.453-12_453-11del
|
|
|
|
NM_014252.4(SLC25A15):c.453-14G>C
|
|
|
|
NM_014252.4(SLC25A15):c.453-16C>T
|
|
|
|
NM_014252.4(SLC25A15):c.453-19T>C
|
|
|
|
NM_014252.4(SLC25A15):c.453-2A>C
|
|
|
|
NM_014252.4(SLC25A15):c.453-7C>T
|
rs2138056608
|
|
|
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=)
|
rs200958757
|
|
|
NM_014252.4(SLC25A15):c.47G>A (p.Gly16Glu)
|
rs2138039633
|
|
|
NM_014252.4(SLC25A15):c.489A>G (p.Lys163=)
|
|
|
|
NM_014252.4(SLC25A15):c.494_495insGGTTCTA (p.Pro166fs)
|
rs2138056681
|
|
|
NM_014252.4(SLC25A15):c.495C>A (p.Gly165=)
|
rs2138056684
|
|
|
NM_014252.4(SLC25A15):c.498del (p.Leu167fs)
|
rs2138056689
|
|
|
NM_014252.4(SLC25A15):c.504G>T (p.Gly168=)
|
rs770229041
|
|
|
NM_014252.4(SLC25A15):c.506T>C (p.Phe169Ser)
|
rs796052041
|
|
|
NM_014252.4(SLC25A15):c.507C>T (p.Phe169=)
|
|
|
|
NM_014252.4(SLC25A15):c.50C>G (p.Ala17Gly)
|
|
|
|
NM_014252.4(SLC25A15):c.512A>G (p.His171Arg)
|
|
|
|
NM_014252.4(SLC25A15):c.514G>T (p.Gly172Ter)
|
rs1480063127
|
|
|
NM_014252.4(SLC25A15):c.519C>T (p.Leu173=)
|
|
|
|
NM_014252.4(SLC25A15):c.530T>C (p.Leu177Ser)
|
rs2138056755
|
|
|
NM_014252.4(SLC25A15):c.536G>T (p.Arg179Leu)
|
rs1172814707
|
|
|
NM_014252.4(SLC25A15):c.541G>C (p.Val181Leu)
|
|
|
|
NM_014252.4(SLC25A15):c.55+11G>C
|
|
|
|
NM_014252.4(SLC25A15):c.55+12T>C
|
rs575712830
|
|
|
NM_014252.4(SLC25A15):c.55+15C>T
|
|
|
|
NM_014252.4(SLC25A15):c.55+17C>T
|
|
|
|
NM_014252.4(SLC25A15):c.55+18A>C
|
|
|
|
NM_014252.4(SLC25A15):c.55+6_55+9dup
|
rs2138039659
|
|
|
NM_014252.4(SLC25A15):c.55+8C>T
|
rs1280804783
|
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
|
NM_014252.4(SLC25A15):c.554T>C (p.Phe185Ser)
|
|
|
|
NM_014252.4(SLC25A15):c.554_557del (p.Phe185fs)
|
rs1882233400
|
|
|
NM_014252.4(SLC25A15):c.558C>T (p.Phe186=)
|
|
|
|
NM_014252.4(SLC25A15):c.56-13G>T
|
|
|
|
NM_014252.4(SLC25A15):c.56-15_56-14del
|
|
|
|
NM_014252.4(SLC25A15):c.56-16T>C
|
|
|
|
NM_014252.4(SLC25A15):c.56-17A>G
|
|
|
|
NM_014252.4(SLC25A15):c.56-1G>A
|
|
|
|
NM_014252.4(SLC25A15):c.56-6T>C
|
|
|
|
NM_014252.4(SLC25A15):c.56-8G>A
|
rs2138045584
|
|
|
NM_014252.4(SLC25A15):c.56-9T>C
|
|
|
|
NM_014252.4(SLC25A15):c.564C>G (p.Phe188Leu)
|
rs141028076
|
|
|
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser)
|
rs151239794
|
|
|
NM_014252.4(SLC25A15):c.56G>C (p.Gly19Ala)
|
|
|
|
NM_014252.4(SLC25A15):c.570del (p.Tyr191fs)
|
rs2138056832
|
|
|
NM_014252.4(SLC25A15):c.579G>C (p.Leu193=)
|
rs2138056841
|
|
|
NM_014252.4(SLC25A15):c.585G>A (p.Arg195=)
|
|
|
|
NM_014252.4(SLC25A15):c.588C>T (p.Ser196=)
|
rs2138056870
|
|
|
NM_014252.4(SLC25A15):c.594dup (p.Ala199fs)
|
|
|
|
NM_014252.4(SLC25A15):c.597A>G (p.Ala199=)
|
rs1001813690
|
|
|
NM_014252.4(SLC25A15):c.59del (p.Gly20fs)
|
rs1566121215
|
|
|
NM_014252.4(SLC25A15):c.622+1G>A
|
rs957788324
|
|
|
NM_014252.4(SLC25A15):c.622+20C>T
|
|
|
|
NM_014252.4(SLC25A15):c.622+24_622+25insCATTTGCATTGACAGCA
|
|
|
|
NM_014252.4(SLC25A15):c.622+9G>A
|
rs2138056932
|
|
|
NM_014252.4(SLC25A15):c.623-13T>C
|
|
|
|
NM_014252.4(SLC25A15):c.623-16T>C
|
|
|
|
NM_014252.4(SLC25A15):c.623-17A>T
|
rs191780003
|
|
|
NM_014252.4(SLC25A15):c.623-18_623-17insG
|
rs1212518673
|
|
|
NM_014252.4(SLC25A15):c.623-5T>C
|
|
|
|
NM_014252.4(SLC25A15):c.623-5del
|
|
|
|
NM_014252.4(SLC25A15):c.623-7del
|
|
|
|
NM_014252.4(SLC25A15):c.623-7dup
|
rs150927352
|
|
|
NM_014252.4(SLC25A15):c.623-9T>C
|
|
|
|
NM_014252.4(SLC25A15):c.624C>A (p.Gly208=)
|
|
|
|
NM_014252.4(SLC25A15):c.624C>T (p.Gly208=)
|
|
|
|
NM_014252.4(SLC25A15):c.627T>C (p.Pro209=)
|
rs1882286895
|
|
|
NM_014252.4(SLC25A15):c.631C>T (p.Pro211Ser)
|
|
|
|
NM_014252.4(SLC25A15):c.633T>G (p.Pro211=)
|
|
|
|
NM_014252.4(SLC25A15):c.639_640del (p.Met213fs)
|
rs2138057963
|
|
|
NM_014252.4(SLC25A15):c.646G>A (p.Gly216Ser)
|
rs1417167600
|
|
|
NM_014252.4(SLC25A15):c.657T>A (p.Gly219=)
|
|
|
|
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)
|
rs202247805
|
|
|
NM_014252.4(SLC25A15):c.669del (p.Trp224fs)
|
|
|
|
NM_014252.4(SLC25A15):c.672G>A (p.Trp224Ter)
|
rs1593295876
|
|
|
NM_014252.4(SLC25A15):c.678G>C (p.Ala226=)
|
rs183697658
|
|
|
NM_014252.4(SLC25A15):c.681A>G (p.Val227=)
|
rs767671614
|
|
|
NM_014252.4(SLC25A15):c.693T>C (p.Asp231=)
|
|
|
|
NM_014252.4(SLC25A15):c.699C>T (p.Ile233=)
|
|
|
|
NM_014252.4(SLC25A15):c.69T>C (p.Cys23=)
|
rs2138045632
|
|
|
NM_014252.4(SLC25A15):c.70G>A (p.Val24Ile)
|
|
|
|
NM_014252.4(SLC25A15):c.714A>G (p.Gln238=)
|
|
|
|
NM_014252.4(SLC25A15):c.715G>A (p.Val239Ile)
|
|
|
|
NM_014252.4(SLC25A15):c.723C>T (p.Ser241=)
|
|
|
|
NM_014252.4(SLC25A15):c.727_730dup (p.Gly244fs)
|
|
|
|
NM_014252.4(SLC25A15):c.72A>T (p.Val24=)
|
rs1392943139
|
|
|
NM_014252.4(SLC25A15):c.73C>T (p.Leu25=)
|
|
|
|
NM_014252.4(SLC25A15):c.755_756insA (p.Phe253fs)
|
|
|
|
NM_014252.4(SLC25A15):c.75G>C (p.Leu25=)
|
rs2138045646
|
|
|
NM_014252.4(SLC25A15):c.760A>C (p.Ile254Leu)
|
rs17849654
|
|
|
NM_014252.4(SLC25A15):c.76del (p.Thr26fs)
|
rs2138045649
|
|
|
NM_014252.4(SLC25A15):c.776dup (p.Asn259fs)
|
|
|
|
NM_014252.4(SLC25A15):c.778G>T (p.Glu260Ter)
|
rs1882296594
|
|
|
NM_014252.4(SLC25A15):c.781+12C>T
|
|
|
|
NM_014252.4(SLC25A15):c.781+15G>A
|
|
|
|
NM_014252.4(SLC25A15):c.781+1G>A
|
|
|
|
NM_014252.4(SLC25A15):c.781+2T>A
|
|
|
|
NM_014252.4(SLC25A15):c.781+9dup
|
rs2138058178
|
|
|
NM_014252.4(SLC25A15):c.782-10T>G
|
rs2138059526
|
|
|
NM_014252.4(SLC25A15):c.782-18C>G
|
|
|
|
NM_014252.4(SLC25A15):c.782-19C>T
|
|
|
|
NM_014252.4(SLC25A15):c.782-20A>G
|
|
|
|
NM_014252.4(SLC25A15):c.782-6del
|
|
|
|
NM_014252.4(SLC25A15):c.789G>T (p.Thr263=)
|
rs144478411
|
|
|
NM_014252.4(SLC25A15):c.792C>G (p.Ala264=)
|
rs768406331
|
|
|
NM_014252.4(SLC25A15):c.800C>G (p.Ser267Cys)
|
|
|
|
NM_014252.4(SLC25A15):c.804A>G (p.Gly268=)
|
rs2138059571
|
|
|
NM_014252.4(SLC25A15):c.831C>T (p.Phe277=)
|
rs2138059638
|
|
|
NM_014252.4(SLC25A15):c.843A>T (p.Gly281=)
|
rs199850093
|
|
|
NM_014252.4(SLC25A15):c.854T>C (p.Leu285Ser)
|
rs1882361798
|
|
|
NM_014252.4(SLC25A15):c.855G>A (p.Leu285=)
|
|
|
|
NM_014252.4(SLC25A15):c.866A>G (p.Tyr289Cys)
|
|
|
|
NM_014252.4(SLC25A15):c.883A>G (p.Met295Val)
|
|
|
|
NM_014252.4(SLC25A15):c.888C>T (p.Asn296=)
|
rs2138059719
|
|
|
NM_014252.4(SLC25A15):c.891G>A (p.Gln297=)
|
|
|
|
NM_014252.4(SLC25A15):c.900A>T (p.Ala300=)
|
|
|
|
NM_014252.4(SLC25A15):c.905G>A (p.Ter302=)
|
rs2138059746
|
|
|
NM_014252.4(SLC25A15):c.93C>T (p.Asp31=)
|
|
|
|
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)
|
rs121908536
|
|
|
NM_014252.4(SLC25A15):c.95C>T (p.Thr32Ile)
|
|
|
|
NM_014252.4(SLC25A15):c.97del (p.Thr32_Met33insTer)
|
|
|
|
NM_014252.4(SLC25A15):c.98_101del (p.Met33fs)
|
|
|
|
NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)
|
|
|
|
NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)
|
|
|
|
NM_014362.4(HIBCH):c.1010_1011+3del
|
|
|
|
NM_014362.4(HIBCH):c.1011+10dup
|
|
|
|
NM_014362.4(HIBCH):c.1011+20del
|
rs144660628
|
|
|
NM_014362.4(HIBCH):c.1012-10T>G
|
rs1246020574
|
|
|
NM_014362.4(HIBCH):c.1012-16C>G
|
|
|
|
NM_014362.4(HIBCH):c.1012-19A>T
|
|
|
|
NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)
|
rs1364971527
|
|
|
NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)
|
rs1260531370
|
|
|
NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)
|
|
|
|
NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)
|
|
|
|
NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)
|
rs1575690645
|
|
|
NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)
|
rs1575690635
|
|
|
NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)
|
|
|
|
NM_014362.4(HIBCH):c.1128del (p.Phe376fs)
|
rs863225062
|
|
|
NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)
|
|
|
|
NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)
|
|
|
|
NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)
|
rs749741622
|
|
|
NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)
|
|
|
|
NM_014362.4(HIBCH):c.150A>G (p.Thr50=)
|
|
|
|
NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)
|
|
|
|
NM_014362.4(HIBCH):c.219+16A>G
|
rs2105992508
|
|
|
NM_014362.4(HIBCH):c.219G>A (p.Lys73=)
|
|
|
|
NM_014362.4(HIBCH):c.222G>A (p.Lys74=)
|
|
|
|
NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)
|
|
|
|
NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)
|
rs2105990079
|
|
|
NM_014362.4(HIBCH):c.288C>T (p.Ala96=)
|
|
|
|
NM_014362.4(HIBCH):c.304+9T>G
|
|
|
|
NM_014362.4(HIBCH):c.305-5C>T
|
|
|
|
NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)
|
|
|
|
NM_014362.4(HIBCH):c.35+8AG[2]
|
rs754126815
|
|
|
NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)
|
|
|
|
NM_014362.4(HIBCH):c.385+11del
|
rs374891270
|
|
|
NM_014362.4(HIBCH):c.385+2T>A
|
rs2105985080
|
|
|
NM_014362.4(HIBCH):c.438+4A>G
|
|
|
|
NM_014362.4(HIBCH):c.439-2A>G
|
rs1180861300
|
|
|
NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)
|
|
|
|
NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)
|
rs74832989
|
|
|
NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)
|
rs1341440380
|
|
|
NM_014362.4(HIBCH):c.517+16T>C
|
|
|
|
NM_014362.4(HIBCH):c.518-12A>G
|
|
|
|
NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)
|
|
|
|
NM_014362.4(HIBCH):c.594A>T (p.Thr198=)
|
|
|
|
NM_014362.4(HIBCH):c.609del (p.Gly204fs)
|
rs776592661
|
|
|
NM_014362.4(HIBCH):c.60T>C (p.Asn20=)
|
|
|
|
NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)
|
|
|
|
NM_014362.4(HIBCH):c.663+13A>G
|
|
|
|
NM_014362.4(HIBCH):c.663+14T>G
|
|
|
|
NM_014362.4(HIBCH):c.664-16del
|
|
|
|
NM_014362.4(HIBCH):c.664-18T>C
|
|
|
|
NM_014362.4(HIBCH):c.664-2A>G
|
|
|
|
NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)
|
|
|
|
NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)
|
|
|
|
NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)
|
|
|
|
NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)
|
|
|
|
NM_014362.4(HIBCH):c.751-4A>G
|
|
|
|
NM_014362.4(HIBCH):c.751-5_751-2del
|
|
|
|
NM_014362.4(HIBCH):c.78+17G>A
|
|
|
|
NM_014362.4(HIBCH):c.783T>G (p.Leu261=)
|
rs2105934861
|
|
|
NM_014362.4(HIBCH):c.79-4A>T
|
|
|
|
NM_014362.4(HIBCH):c.79-9T>C
|
|
|
|
NM_014362.4(HIBCH):c.798C>T (p.Asp266=)
|
rs2105934821
|
|
|
NM_014362.4(HIBCH):c.809+19C>T
|
rs1249772787
|
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
|
NM_014362.4(HIBCH):c.810-4A>G
|
|
|
|
NM_014362.4(HIBCH):c.831G>A (p.Val277=)
|
|
|
|
NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)
|
|
|
|
NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)
|
|
|
|
NM_014362.4(HIBCH):c.891+16T>C
|
|
|
|
NM_014362.4(HIBCH):c.891+18T>C
|
rs959638999
|
|
|
NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)
|
|
|
|
NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)
|
|
|
|
NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)
|
|
|
|
NM_014362.4(HIBCH):c.951G>T (p.Gly317=)
|
|
|
|
NM_014362.4(HIBCH):c.963C>G (p.Thr321=)
|
|
|
|
NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)
|
rs751484433
|
|
|
NM_014384.2(ACAD8):c.235C>T (p.Arg79Trp)
|
rs377629003
|
|
|
NM_014384.3(ACAD8):c.104T>G (p.Ile35Ser)
|
|
|
|
NM_014384.3(ACAD8):c.1057A>G (p.Met353Val)
|
rs2136083488
|
|
|
NM_014384.3(ACAD8):c.1084T>C (p.Cys362Arg)
|
rs995149464
|
|
|
NM_014384.3(ACAD8):c.109+19G>T
|
|
|
|
NM_014384.3(ACAD8):c.1092+1G>A
|
rs572619478
|
|
|
NM_014384.3(ACAD8):c.1092+1G>C
|
rs572619478
|
|
|
NM_014384.3(ACAD8):c.1092+3_1092+6del
|
rs780925587
|
|
|
NM_014384.3(ACAD8):c.1097G>A (p.Cys366Tyr)
|
|
|
|
NM_014384.3(ACAD8):c.109C>T (p.Pro37Ser)
|
|
|
|
NM_014384.3(ACAD8):c.110-6C>T
|
rs559628768
|
|
|
NM_014384.3(ACAD8):c.1119C>T (p.His373=)
|
|
|
|
NM_014384.3(ACAD8):c.1146C>T (p.Tyr382=)
|
|
|
|
NM_014384.3(ACAD8):c.1161C>T (p.Tyr387=)
|
|
|
|
NM_014384.3(ACAD8):c.1193A>G (p.Glu398Gly)
|
rs1218106884
|
|
|
NM_014384.3(ACAD8):c.1195+10G>A
|
|
|
|
NM_014384.3(ACAD8):c.1195+1G>A
|
rs1555067461
|
|
|
NM_014384.3(ACAD8):c.1195+7_1195+8delinsTA
|
rs2136084544
|
|
|
NM_014384.3(ACAD8):c.1196-4_1196-2del
|
rs1940101302
|
|
|
NM_014384.3(ACAD8):c.1196-9C>G
|
|
|
|
NM_014384.3(ACAD8):c.121C>A (p.Leu41Ile)
|
rs2136075017
|
|
|
NM_014384.3(ACAD8):c.12C>T (p.Ser4=)
|
|
|
|
NM_014384.3(ACAD8):c.130G>A (p.Glu44Lys)
|
|
|
|
NM_014384.3(ACAD8):c.133C>T (p.Gln45Ter)
|
rs1591505809
|
|
|
NM_014384.3(ACAD8):c.198G>A (p.Glu66=)
|
|
|
|
NM_014384.3(ACAD8):c.1A>G (p.Met1Val)
|
|
|
|
NM_014384.3(ACAD8):c.210+7G>A
|
|
|
|
NM_014384.3(ACAD8):c.235C>G (p.Arg79Gly)
|
rs377629003
|
|
|
NM_014384.3(ACAD8):c.243A>C (p.Ala81=)
|
rs1591506881
|
|
|
NM_014384.3(ACAD8):c.259G>A (p.Gly87Arg)
|
|
|
|
NM_014384.3(ACAD8):c.275A>G (p.Gln92Arg)
|
rs886048022
|
|
|
NM_014384.3(ACAD8):c.27C>T (p.Phe9=)
|
rs2136068044
|
|
|
NM_014384.3(ACAD8):c.285G>A (p.Val95=)
|
|
|
|
NM_014384.3(ACAD8):c.293C>T (p.Ser98Phe)
|
rs948304437
|
|
|
NM_014384.3(ACAD8):c.316T>C (p.Ser106Pro)
|
rs2136076309
|
|
|
NM_014384.3(ACAD8):c.32C>T (p.Ala11Val)
|
rs773403936
|
|
|
NM_014384.3(ACAD8):c.340A>G (p.Thr114Ala)
|
rs935057058
|
|
|
NM_014384.3(ACAD8):c.344G>A (p.Gly115Asp)
|
|
|
|
NM_014384.3(ACAD8):c.348C>A (p.Cys116Ter)
|
rs768701760
|
|
|
NM_014384.3(ACAD8):c.368T>A (p.Ile123Lys)
|
rs1353919966
|
|
|
NM_014384.3(ACAD8):c.372C>G (p.Ser124Arg)
|
|
|
|
NM_014384.3(ACAD8):c.375C>G (p.Ile125Met)
|
|
|
|
NM_014384.3(ACAD8):c.380+7G>T
|
rs1335335796
|
|
|
NM_014384.3(ACAD8):c.3G>C (p.Met1Ile)
|
|
|
|
NM_014384.3(ACAD8):c.422A>G (p.Gln141Arg)
|
rs2136078898
|
|
|
NM_014384.3(ACAD8):c.431A>G (p.Lys144Arg)
|
rs1301535598
|
|
|
NM_014384.3(ACAD8):c.441A>G (p.Pro147=)
|
|
|
|
NM_014384.3(ACAD8):c.459G>A (p.Glu153=)
|
|
|
|
NM_014384.3(ACAD8):c.473A>C (p.Tyr158Ser)
|
|
|
|
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys)
|
rs779385985
|
|
|
NM_014384.3(ACAD8):c.494G>T (p.Ser165Ile)
|
|
|
|
NM_014384.3(ACAD8):c.584C>A (p.Ala195Asp)
|
rs774591276
|
|
|
NM_014384.3(ACAD8):c.589G>T (p.Glu197Ter)
|
|
|
|
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
|
|
|
|
NM_014384.3(ACAD8):c.621A>G (p.Thr207=)
|
rs1315587870
|
|
|
NM_014384.3(ACAD8):c.64G>T (p.Val22Phe)
|
rs1274417206
|
|
|
NM_014384.3(ACAD8):c.730C>G (p.Arg244Gly)
|
|
|
|
NM_014384.3(ACAD8):c.782G>A (p.Ser261Asn)
|
rs2136082301
|
|
|
NM_014384.3(ACAD8):c.794G>C (p.Gly265Ala)
|
rs1246888184
|
|
|
NM_014384.3(ACAD8):c.79G>A (p.Gly27Ser)
|
|
|
|
NM_014384.3(ACAD8):c.804T>C (p.Ile268=)
|
rs757519037
|
|
|
NM_014384.3(ACAD8):c.822C>A (p.Asn274Lys)
|
rs371156848
|
|
|
NM_014384.3(ACAD8):c.822C>T (p.Asn274=)
|
|
|
|
NM_014384.3(ACAD8):c.842-19C>T
|
|
|
|
NM_014384.3(ACAD8):c.849C>G (p.Cys283Trp)
|
rs1939865617
|
|
|
NM_014384.3(ACAD8):c.859G>C (p.Ala287Pro)
|
|
|
|
NM_014384.3(ACAD8):c.867C>G (p.His289Gln)
|
rs121908421
|
|
|
NM_014384.3(ACAD8):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_014384.3(ACAD8):c.868G>C (p.Ala290Pro)
|
|
|
|
NM_014384.3(ACAD8):c.886C>T (p.Arg296Ter)
|
|
|
|
NM_014384.3(ACAD8):c.905G>C (p.Arg302Pro)
|
rs121908422
|
|
|
NM_014384.3(ACAD8):c.909G>A (p.Lys303=)
|
rs2136082667
|
|
|
NM_014384.3(ACAD8):c.939+1G>T
|
|
|
|
NM_014384.3(ACAD8):c.940-13C>G
|
|
|
|
NM_014384.3(ACAD8):c.951C>T (p.Phe317=)
|
|
|
|
NM_014384.3(ACAD8):c.965T>G (p.Met322Arg)
|
rs577976129
|
|
|
NM_014384.3(ACAD8):c.986C>T (p.Ala329Val)
|
|
|
|
NM_015506.3(MMACHC):c.120C>T (p.His40=)
|
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
|
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
|
|
|
|
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
|
|
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
|
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
|
rs936938761
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
|
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)
|
rs1570829648
|
|
|
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
|
|
|
|
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
|
|
|
|
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
|
|
|
|
NM_015506.3(MMACHC):c.15C>T (p.Val5=)
|
rs902026116
|
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
|
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
|
|
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
|
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
|
|
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
|
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
|
|
|
|
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
|
|
|
|
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)
|
rs2149323253
|
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
|
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
|
rs2149323265
|
|
|
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
|
|
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
|
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
|
rs2149323280
|
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
|
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
|
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
|
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
|
rs2149323292
|
|
|
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
|
|
|
|
NM_015506.3(MMACHC):c.276+13C>G
|
rs543041810
|
|
|
NM_015506.3(MMACHC):c.276+13C>T
|
|
|
|
NM_015506.3(MMACHC):c.276+13_276+14del
|
|
|
|
NM_015506.3(MMACHC):c.276+17T>C
|
|
|
|
NM_015506.3(MMACHC):c.276+20C>T
|
|
|
|
NM_015506.3(MMACHC):c.276+2T>C
|
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
|
NM_015506.3(MMACHC):c.276+8A>G
|
|
|
|
NM_015506.3(MMACHC):c.276+9G>A
|
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
|
NM_015506.3(MMACHC):c.277-10A>C
|
|
|
|
NM_015506.3(MMACHC):c.277-13T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-14G>A
|
|
|
|
NM_015506.3(MMACHC):c.277-15T>G
|
|
|
|
NM_015506.3(MMACHC):c.277-17_277-16insA
|
|
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
|
NM_015506.3(MMACHC):c.277-20T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
|
NM_015506.3(MMACHC):c.277-4C>T
|
|
|
|
NM_015506.3(MMACHC):c.277-6T>C
|
|
|
|
NM_015506.3(MMACHC):c.277-7G>A
|
rs1258697986
|
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
|
NM_015506.3(MMACHC):c.277-9C>T
|
|
|
|
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
|
|
|
|
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
|
|
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
|
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)
|
rs1643664191
|
|
|
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)
|
rs566356386
|
|
|
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
|
|
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
|
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
|
|
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
|
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
|
|
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
|
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
|
|
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
|
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)
|
rs2149323560
|
|
|
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)
|
rs770446383
|
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
|
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)
|
rs2149323564
|
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
|
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
|
|
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.366T>C (p.His122=)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
|
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
|
rs1643666589
|
|
|
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
|
|
|
|
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
|
|
|
|
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
|
|
|
|
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
|
|
|
|
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
|
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
|
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
|
|
|
|
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)
|
rs2149323618
|
|
|
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
|
|
|
|
NM_015506.3(MMACHC):c.429+12A>C
|
|
|
|
NM_015506.3(MMACHC):c.429+13del
|
|
|
|
NM_015506.3(MMACHC):c.429+14T>A
|
|
|
|
NM_015506.3(MMACHC):c.429+14T>C
|
|
|
|
NM_015506.3(MMACHC):c.429+18_429+21del
|
|
|
|
NM_015506.3(MMACHC):c.429+1G>C
|
rs1643668441
|
|
|
NM_015506.3(MMACHC):c.429+20T>C
|
|
|
|
NM_015506.3(MMACHC):c.429+20T>G
|
|
|
|
NM_015506.3(MMACHC):c.429+7G>A
|
rs1227206156
|
|
|
NM_015506.3(MMACHC):c.429+7_429+31del
|
rs2149323628
|
|
|
NM_015506.3(MMACHC):c.429+9G>C
|
|
|
|
NM_015506.3(MMACHC):c.430-10C>A
|
|
|
|
NM_015506.3(MMACHC):c.430-10C>T
|
rs550692873
|
|
|
NM_015506.3(MMACHC):c.430-11C>T
|
|
|
|
NM_015506.3(MMACHC):c.430-12C>T
|
|
|
|
NM_015506.3(MMACHC):c.430-13A>T
|
|
|
|
NM_015506.3(MMACHC):c.430-16T>C
|
|
|
|
NM_015506.3(MMACHC):c.430-8C>T
|
rs1217401490
|
|
|
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
|
|
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
|
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
|
|
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
|
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
|
|
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
|
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
|
|
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
|
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
|
rs756413692
|
|
|
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
|
|
|
|
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)
|
rs750623781
|
|
|
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
|
|
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
|
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
|
|
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
|
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
|
|
|
|
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)
|
rs2149323826
|
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
|
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
|
|
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
|
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
|
rs765960386
|
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
|
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
|
rs761111018
|
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
|
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
|
|
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
|
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)
|
rs1366306237
|
|
|
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)
|
rs1366306237
|
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
|
NM_015506.3(MMACHC):c.534del (p.Lys178fs)
|
rs2149323872
|
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
|
NM_015506.3(MMACHC):c.546T>C (p.Cys182=)
|
rs2149323890
|
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
|
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
|
|
|
|
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
|
|
|
|
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
|
|
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
|
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
|
rs1397062260
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
|
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)
|
rs750572915
|
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
|
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
|
rs766342926
|
|
|
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
|
|
|
|
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
|
|
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
|
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
|
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
|
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
|
rs1643682280
|
|
|
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
|
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
|
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
|
|
|
|
NM_015506.3(MMACHC):c.619del (p.Asp207fs)
|
rs765913293
|
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
|
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
|
|
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
|
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
|
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
|
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)
|
rs2149320920
|
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
|
|
|
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
|
|
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
|
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)
|
rs2149323994
|
|
|
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
|
|
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
|
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
|
rs1363738186
|
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
|
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
|
|
|
|
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
|
|
|
|
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
|
|
|
|
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)
|
rs781527733
|
|
|
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
|
|
|
|
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
|
rs2149324023
|
|
|
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
|
|
|
|
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)
|
rs767496391
|
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
|
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
|
|
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
|
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)
|
rs764969563
|
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
|
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
|
rs891106099
|
|
|
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)
|
rs1173232857
|
|
|
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
|
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
|
NM_015506.3(MMACHC):c.753C>A (p.Pro251=)
|
rs1643688309
|
|
|
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
|
rs1643688309
|
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
|
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
|
|
|
|
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
|
|
|
|
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
|
rs771203889
|
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
|
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
|
|
|
|
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
|
|
|
|
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)
|
rs770431439
|
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
|
NM_015506.3(MMACHC):c.81+10T>G
|
rs2149320953
|
|
|
NM_015506.3(MMACHC):c.81+11C>A
|
|
|
|
NM_015506.3(MMACHC):c.81+13C>G
|
|
|
|
NM_015506.3(MMACHC):c.81+13C>T
|
|
|
|
NM_015506.3(MMACHC):c.81+15C>T
|
|
|
|
NM_015506.3(MMACHC):c.81+17T>C
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
|
NM_015506.3(MMACHC):c.81+1G>T
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>C
|
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
|
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
|
|
|
|
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
|
rs1311947307
|
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
|
NM_015506.3(MMACHC):c.82-16G>C
|
|
|
|
NM_015506.3(MMACHC):c.82-17T>C
|
|
|
|
NM_015506.3(MMACHC):c.82-18C>T
|
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
|
NM_015506.3(MMACHC):c.82-2A>G
|
|
|
|
NM_015506.3(MMACHC):c.82-7G>A
|
|
|
|
NM_015506.3(MMACHC):c.82-8T>C
|
|
|
|
NM_015506.3(MMACHC):c.822C>A (p.Val274=)
|
rs746114287
|
|
|
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
|
rs746114287
|
|
|
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
|
rs1288893138
|
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
|
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
|
|
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
|
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
|
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
|
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)
|
rs1289618918
|
|
|
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
|
|
|
|
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
|
|
|
|
NM_015509.4(NECAP1):c.100T>A (p.Ser34Thr)
|
rs2120475831
|
|
|
NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys)
|
rs1555168520
|
|
|
NM_015509.4(NECAP1):c.117C>T (p.Asp39=)
|
|
|
|
NM_015509.4(NECAP1):c.11A>G (p.Glu4Gly)
|
rs1191200725
|
|
|
NM_015509.4(NECAP1):c.126T>C (p.Asp42=)
|
rs970227105
|
|
|
NM_015509.4(NECAP1):c.12G>A (p.Glu4=)
|
|
|
|
NM_015509.4(NECAP1):c.131C>A (p.Thr44Asn)
|
rs2120475973
|
|
|
NM_015509.4(NECAP1):c.178C>T (p.Leu60Phe)
|
rs1947528448
|
|
|
NM_015509.4(NECAP1):c.18G>A (p.Glu6=)
|
rs780652766
|
|
|
NM_015509.4(NECAP1):c.196+12G>C
|
rs371530521
|
|
|
NM_015509.4(NECAP1):c.196+20C>G
|
rs2120476352
|
|
|
NM_015509.4(NECAP1):c.197-16T>C
|
|
|
|
NM_015509.4(NECAP1):c.197-19T>C
|
|
|
|
NM_015509.4(NECAP1):c.197-5G>C
|
|
|
|
NM_015509.4(NECAP1):c.197-8T>C
|
rs757344160
|
|
|
NM_015509.4(NECAP1):c.210T>C (p.Ala70=)
|
|
|
|
NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser)
|
rs1947530992
|
|
|
NM_015509.4(NECAP1):c.217C>T (p.Pro73Ser)
|
rs2120476836
|
|
|
NM_015509.4(NECAP1):c.21C>T (p.Tyr7=)
|
|
|
|
NM_015509.4(NECAP1):c.228A>G (p.Gln76=)
|
|
|
|
NM_015509.4(NECAP1):c.236G>A (p.Gly79Asp)
|
|
|
|
NM_015509.4(NECAP1):c.241G>T (p.Ala81Ser)
|
|
|
|
NM_015509.4(NECAP1):c.244G>A (p.Val82Met)
|
rs1947531325
|
|
|
NM_015509.4(NECAP1):c.258_273del (p.Asp87fs)
|
|
|
|
NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys)
|
rs374365372
|
|
|
NM_015509.4(NECAP1):c.26C>G (p.Ser9Cys)
|
|
|
|
NM_015509.4(NECAP1):c.301+13G>A
|
|
|
|
NM_015509.4(NECAP1):c.302-11G>A
|
rs765403528
|
|
|
NM_015509.4(NECAP1):c.302-11G>T
|
rs765403528
|
|
|
NM_015509.4(NECAP1):c.302-12C>G
|
|
|
|
NM_015509.4(NECAP1):c.302-5C>T
|
|
|
|
NM_015509.4(NECAP1):c.30G>A (p.Val10=)
|
|
|
|
NM_015509.4(NECAP1):c.315C>T (p.Phe105=)
|
rs2120482419
|
|
|
NM_015509.4(NECAP1):c.337C>T (p.Arg113Trp)
|
|
|
|
NM_015509.4(NECAP1):c.338G>A (p.Arg113Gln)
|
|
|
|
NM_015509.4(NECAP1):c.346G>T (p.Ala116Ser)
|
rs2120482566
|
|
|
NM_015509.4(NECAP1):c.351C>T (p.Phe117=)
|
|
|
|
NM_015509.4(NECAP1):c.372G>A (p.Gln124=)
|
rs2120482694
|
|
|
NM_015509.4(NECAP1):c.383+11dup
|
rs2120482806
|
|
|
NM_015509.4(NECAP1):c.383+13T>A
|
|
|
|
NM_015509.4(NECAP1):c.383+13del
|
|
|
|
NM_015509.4(NECAP1):c.383+15T>C
|
|
|
|
NM_015509.4(NECAP1):c.383+3G>T
|
rs1555169180
|
|
|
NM_015509.4(NECAP1):c.384-12G>A
|
|
|
|
NM_015509.4(NECAP1):c.384-15G>A
|
|
|
|
NM_015509.4(NECAP1):c.393G>A (p.Lys131=)
|
|
|
|
NM_015509.4(NECAP1):c.398A>G (p.Glu133Gly)
|
|
|
|
NM_015509.4(NECAP1):c.422A>G (p.Gln141Arg)
|
rs2120485560
|
|
|
NM_015509.4(NECAP1):c.427A>G (p.Met143Val)
|
|
|
|
NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu)
|
rs769210779
|
|
|
NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu)
|
rs368565295
|
|
|
NM_015509.4(NECAP1):c.449A>G (p.Asp150Gly)
|
rs2120485644
|
|
|
NM_015509.4(NECAP1):c.479A>C (p.Lys160Thr)
|
|
|
|
NM_015509.4(NECAP1):c.492+15T>C
|
rs2120485872
|
|
|
NM_015509.4(NECAP1):c.492+18A>T
|
rs2120485883
|
|
|
NM_015509.4(NECAP1):c.515G>A (p.Gly172Asp)
|
|
|
|
NM_015509.4(NECAP1):c.515G>T (p.Gly172Val)
|
|
|
|
NM_015509.4(NECAP1):c.51C>T (p.Val17=)
|
|
|
|
NM_015509.4(NECAP1):c.531G>A (p.Arg177=)
|
|
|
|
NM_015509.4(NECAP1):c.539G>A (p.Arg180Lys)
|
rs934424311
|
|
|
NM_015509.4(NECAP1):c.542G>C (p.Gly181Ala)
|
|
|
|
NM_015509.4(NECAP1):c.555C>T (p.Ser185=)
|
|
|
|
NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg)
|
rs764080699
|
|
|
NM_015509.4(NECAP1):c.570G>A (p.Pro190=)
|
rs148192941
|
|
|
NM_015509.4(NECAP1):c.570G>T (p.Pro190=)
|
rs148192941
|
|
|
NM_015509.4(NECAP1):c.573A>G (p.Pro191=)
|
|
|
|
NM_015509.4(NECAP1):c.579C>A (p.Gly193=)
|
|
|
|
NM_015509.4(NECAP1):c.581A>T (p.Lys194Ile)
|
rs765855460
|
|
|
NM_015509.4(NECAP1):c.586A>C (p.Thr196Pro)
|
|
|
|
NM_015509.4(NECAP1):c.594C>T (p.Pro198=)
|
rs1947563520
|
|
|
NM_015509.4(NECAP1):c.629T>C (p.Val210Ala)
|
rs1205804172
|
|
|
NM_015509.4(NECAP1):c.648G>T (p.Pro216=)
|
rs370869772
|
|
|
NM_015509.4(NECAP1):c.653C>T (p.Ser218Phe)
|
rs371472296
|
|
|
NM_015509.4(NECAP1):c.664G>A (p.Gly222Ser)
|
|
|
|
NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly)
|
rs2120487076
|
|
|
NM_015509.4(NECAP1):c.676+10G>A
|
|
|
|
NM_015509.4(NECAP1):c.676+18A>G
|
rs1947564278
|
|
|
NM_015509.4(NECAP1):c.677-12C>T
|
|
|
|
NM_015509.4(NECAP1):c.677-17del
|
|
|
|
NM_015509.4(NECAP1):c.681C>A (p.Ile227=)
|
|
|
|
NM_015509.4(NECAP1):c.68C>T (p.Pro23Leu)
|
rs1947447226
|
|
|
NM_015509.4(NECAP1):c.700C>T (p.Pro234Ser)
|
|
|
|
NM_015509.4(NECAP1):c.706C>T (p.Pro236Ser)
|
|
|
|
NM_015509.4(NECAP1):c.709G>A (p.Val237Ile)
|
|
|
|
NM_015509.4(NECAP1):c.709G>C (p.Val237Leu)
|
rs752918460
|
|
|
NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser)
|
rs1555169422
|
|
|
NM_015509.4(NECAP1):c.734T>C (p.Val245Ala)
|
rs2120495324
|
|
|
NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe)
|
rs1947587871
|
|
|
NM_015509.4(NECAP1):c.765C>T (p.Phe255=)
|
|
|
|
NM_015509.4(NECAP1):c.779+19C>T
|
|
|
|
NM_015509.4(NECAP1):c.779G>A (p.Ser260Asn)
|
rs2120495561
|
|
|
NM_015509.4(NECAP1):c.780-12_780-10del
|
|
|
|
NM_015509.4(NECAP1):c.782C>G (p.Ser261Cys)
|
rs1264229871
|
|
|
NM_015509.4(NECAP1):c.790A>G (p.Asn264Asp)
|
rs2120496634
|
|
|
NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu)
|
rs1427000545
|
|
|
NM_015509.4(NECAP1):c.797C>T (p.Ala266Val)
|
rs1020014973
|
|
|
NM_015509.4(NECAP1):c.810C>T (p.Ser270=)
|
|
|
|
NM_015509.4(NECAP1):c.818T>C (p.Val273Ala)
|
rs2120496797
|
|
|
NM_015509.4(NECAP1):c.81C>T (p.Ser27=)
|
|
|
|
NM_015509.4(NECAP1):c.822G>C (p.Gln274His)
|
|
|
|
NM_015509.4(NECAP1):c.88G>C (p.Gly30Arg)
|
|
|
|
NM_015509.4(NECAP1):c.8C>G (p.Thr3Ser)
|
|
|
|
NM_015509.4(NECAP1):c.93C>T (p.Tyr31=)
|
rs2120448200
|
|
|
NM_015509.4(NECAP1):c.95+10C>G
|
|
|
|
NM_015509.4(NECAP1):c.95+3A>T
|
|
|
|
NM_015509.4(NECAP1):c.95+4C>T
|
|
|
|
NM_015509.4(NECAP1):c.96-15C>T
|
|
|
|
NM_015662.3(IFT172):c.1005+18C>T
|
|
|
|
NM_015662.3(IFT172):c.1006-14T>A
|
|
|
|
NM_015662.3(IFT172):c.1006-16C>A
|
|
|
|
NM_015662.3(IFT172):c.1006-16C>T
|
|
|
|
NM_015662.3(IFT172):c.1006-19dup
|
rs1455103617
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NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
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NM_015662.3(IFT172):c.1011T>C (p.Ile337=)
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rs2148544369
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NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
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NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
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NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)
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rs201862538
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NM_015662.3(IFT172):c.1039G>A (p.Val347Met)
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rs773726175
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NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
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NM_015662.3(IFT172):c.1044G>A (p.Val348=)
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NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
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NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
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NM_015662.3(IFT172):c.1071G>A (p.Val357=)
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NM_015662.3(IFT172):c.1078del (p.Glu359_Val360insTer)
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rs1453282096
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NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
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NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala)
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rs1668096577
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NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
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NM_015662.3(IFT172):c.1100_1103dup (p.Tyr368Ter)
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NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
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NM_015662.3(IFT172):c.1115dup (p.His372fs)
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rs2148544061
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NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
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NM_015662.3(IFT172):c.113G>A (p.Arg38Gln)
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rs552861632
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NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
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NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
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NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp)
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rs1668091920
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NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
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NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly)
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rs1668091082
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NM_015662.3(IFT172):c.1167+17A>T
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NM_015662.3(IFT172):c.1167+18G>A
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NM_015662.3(IFT172):c.1167+20G>A
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rs2148543898
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NM_015662.3(IFT172):c.1167+3A>G
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rs2148543961
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NM_015662.3(IFT172):c.1167+5G>T
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rs2148543947
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NM_015662.3(IFT172):c.1168-12C>T
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NM_015662.3(IFT172):c.1168-15C>T
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rs1668059914
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NM_015662.3(IFT172):c.1168-16T>C
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NM_015662.3(IFT172):c.1168-17G>A
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NM_015662.3(IFT172):c.1168-8C>T
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NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
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NM_015662.3(IFT172):c.117G>A (p.Val39=)
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NM_015662.3(IFT172):c.1197G>A (p.Glu399=)
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rs2148543008
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NM_015662.3(IFT172):c.1198_1200del (p.Lys400del)
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rs2148542998
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NM_015662.3(IFT172):c.1209del (p.Phe403fs)
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rs2148542989
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NM_015662.3(IFT172):c.1222-15C>T
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NM_015662.3(IFT172):c.1222-9T>G
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NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
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NM_015662.3(IFT172):c.1227C>T (p.Cys409=)
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rs973370518
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NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
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NM_015662.3(IFT172):c.1254C>G (p.Thr418=)
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rs1468553045
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NM_015662.3(IFT172):c.126G>A (p.Leu42=)
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rs2148559862
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NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp)
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rs145145347
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NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
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NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
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NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
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NM_015662.3(IFT172):c.1315dup (p.His439fs)
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NM_015662.3(IFT172):c.1325+14A>T
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NM_015662.3(IFT172):c.1325+6C>T
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rs753078264
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NM_015662.3(IFT172):c.1326-10C>A
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NM_015662.3(IFT172):c.1326-1G>A
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NM_015662.3(IFT172):c.1326-8T>C
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NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys)
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rs1038040281
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NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
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NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
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NM_015662.3(IFT172):c.137A>T (p.His46Leu)
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NM_015662.3(IFT172):c.1380T>G (p.Ala460=)
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rs1465089677
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NM_015662.3(IFT172):c.1383T>C (p.Tyr461=)
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rs201572769
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NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
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NM_015662.3(IFT172):c.1393A>G (p.Ile465Val)
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rs1667974652
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NM_015662.3(IFT172):c.1411+2T>C
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NM_015662.3(IFT172):c.1411+7A>G
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NM_015662.3(IFT172):c.1411+8A>C
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NM_015662.3(IFT172):c.1412-14C>T
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NM_015662.3(IFT172):c.1412-16C>T
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NM_015662.3(IFT172):c.1412-1G>C
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NM_015662.3(IFT172):c.1412-20C>G
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rs1487705973
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NM_015662.3(IFT172):c.1412-2A>G
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NM_015662.3(IFT172):c.1413G>A (p.Val471=)
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rs2148531759
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NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
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NM_015662.3(IFT172):c.1435A>G (p.Ile479Val)
|
rs1667635292
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NM_015662.3(IFT172):c.1443C>G (p.Thr481=)
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rs780600337
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NM_015662.3(IFT172):c.1444G>C (p.Val482Leu)
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rs771104054
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NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn)
|
rs1176061294
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NM_015662.3(IFT172):c.1459C>T (p.Arg487Cys)
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NM_015662.3(IFT172):c.1460G>A (p.Arg487His)
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rs368967337
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NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg)
|
rs1282056614
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NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
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NM_015662.3(IFT172):c.1488T>C (p.Thr496=)
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rs1369233091
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NM_015662.3(IFT172):c.148A>T (p.Arg50Ter)
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rs1668686361
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NM_015662.3(IFT172):c.1503C>T (p.Leu501=)
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rs1667628081
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NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
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NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
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NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
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NM_015662.3(IFT172):c.1524+10G>A
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NM_015662.3(IFT172):c.1524+11C>A
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rs2148531337
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NM_015662.3(IFT172):c.1524+19G>T
|
rs1667624184
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NM_015662.3(IFT172):c.1524+2_1524+3del
|
rs769575051
|
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NM_015662.3(IFT172):c.1525-17G>A
|
rs187471043
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NM_015662.3(IFT172):c.1525-20C>G
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NM_015662.3(IFT172):c.1525-6C>G
|
rs201231401
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NM_015662.3(IFT172):c.1525-6C>T
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NM_015662.3(IFT172):c.153T>G (p.Asp51Glu)
|
rs537341371
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NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
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NM_015662.3(IFT172):c.1555A>T (p.Lys519Ter)
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NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
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NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
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NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
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NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe)
|
rs1437298206
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NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp)
|
rs1667528581
|
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NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
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NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu)
|
rs2148528504
|
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NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe)
|
rs1667527908
|
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NM_015662.3(IFT172):c.1590G>A (p.Gln530=)
|
rs770918577
|
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NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
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NM_015662.3(IFT172):c.1615G>A (p.Val539Ile)
|
rs1667524518
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NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
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NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
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NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
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NM_015662.3(IFT172):c.1671_1672dup (p.Val558fs)
|
rs587777083
|
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NM_015662.3(IFT172):c.1674C>G (p.Val558=)
|
rs1455569315
|
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NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
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NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
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NM_015662.3(IFT172):c.1692+12A>T
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NM_015662.3(IFT172):c.1692+18G>A
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NM_015662.3(IFT172):c.1692+6T>A
|
rs771744568
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NM_015662.3(IFT172):c.1692+9G>A
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NM_015662.3(IFT172):c.1693-1G>A
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NM_015662.3(IFT172):c.1693-7T>A
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NM_015662.3(IFT172):c.1693-8T>A
|
rs1192375297
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NM_015662.3(IFT172):c.1693-9C>A
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NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu)
|
rs765731241
|
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NM_015662.3(IFT172):c.1710G>A (p.Leu570=)
|
rs2148516446
|
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NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
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NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
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NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
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NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
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NM_015662.3(IFT172):c.1731C>T (p.Thr577=)
|
rs369849820
|
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NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
|
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NM_015662.3(IFT172):c.1743G>A (p.Val581=)
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NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
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NM_015662.3(IFT172):c.177C>T (p.Asp59=)
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NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp)
|
rs147885790
|
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NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
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NM_015662.3(IFT172):c.1807A>G (p.Ile603Val)
|
rs1442344603
|
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NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
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NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser)
|
rs745938799
|
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NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
|
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NM_015662.3(IFT172):c.1829+3G>A
|
rs751267637
|
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NM_015662.3(IFT172):c.1829+7G>A
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NM_015662.3(IFT172):c.183+13T>C
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NM_015662.3(IFT172):c.1830-13C>T
|
rs1667020853
|
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NM_015662.3(IFT172):c.1830-6T>G
|
rs758128239
|
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NM_015662.3(IFT172):c.1830-8C>T
|
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NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
|
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NM_015662.3(IFT172):c.184-14_184-11del
|
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NM_015662.3(IFT172):c.184-23dup
|
rs747166252
|
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NM_015662.3(IFT172):c.184-2A>C
|
rs2148559396
|
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NM_015662.3(IFT172):c.184-8del
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NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala)
|
rs1403737174
|
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NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
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NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys)
|
rs2148559384
|
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NM_015662.3(IFT172):c.1871_1872del (p.Thr624fs)
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NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
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NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
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NM_015662.3(IFT172):c.189_192del (p.Lys65fs)
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NM_015662.3(IFT172):c.18G>A (p.Leu6=)
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NM_015662.3(IFT172):c.1905A>G (p.Ala635=)
|
rs2148515325
|
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NM_015662.3(IFT172):c.1925A>C (p.His642Pro)
|
rs2148515313
|
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NM_015662.3(IFT172):c.1926C>T (p.His642=)
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NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu)
|
rs371919234
|
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NM_015662.3(IFT172):c.1931C>T (p.Ala644Val)
|
rs371919234
|
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NM_015662.3(IFT172):c.1933G>C (p.Glu645Gln)
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NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
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NM_015662.3(IFT172):c.1937+5G>A
|
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NM_015662.3(IFT172):c.1937+6G>A
|
rs1558388446
|
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NM_015662.3(IFT172):c.1938-15G>A
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NM_015662.3(IFT172):c.1938-17T>C
|
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NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys)
|
rs2148559359
|
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NM_015662.3(IFT172):c.1972C>T (p.Arg658Ter)
|
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NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
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NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
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NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr)
|
rs755632444
|
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NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu)
|
rs1666808431
|
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NM_015662.3(IFT172):c.2023-20A>G
|
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NM_015662.3(IFT172):c.2023-5C>G
|
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NM_015662.3(IFT172):c.2023-5dup
|
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|
NM_015662.3(IFT172):c.2023-9_2023-8insAA
|
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|
NM_015662.3(IFT172):c.202A>G (p.Met68Val)
|
rs1007588478
|
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NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
|
|
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|
NM_015662.3(IFT172):c.2049G>C (p.Gln683His)
|
rs780709991
|
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|
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln)
|
rs561676433
|
|
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NM_015662.3(IFT172):c.205G>A (p.Val69Met)
|
rs756299134
|
|
|
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
|
|
|
|
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu)
|
rs145601549
|
|
|
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
|
|
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|
NM_015662.3(IFT172):c.2078del (p.Lys693fs)
|
rs1444591972
|
|
|
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys)
|
rs1666775725
|
|
|
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
|
|
|
|
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
|
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|
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
|
|
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|
NM_015662.3(IFT172):c.2115+12A>G
|
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NM_015662.3(IFT172):c.2116-11G>C
|
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|
NM_015662.3(IFT172):c.2116-11G>T
|
|
|
|
NM_015662.3(IFT172):c.2116-2A>G
|
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|
|
NM_015662.3(IFT172):c.2116-5C>G
|
|
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|
NM_015662.3(IFT172):c.2116-5C>T
|
rs754154643
|
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NM_015662.3(IFT172):c.2116-7C>T
|
|
|
|
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
|
|
|
|
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
|
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|
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
|
|
|
|
NM_015662.3(IFT172):c.2146C>T (p.Gln716Ter)
|
rs2148507566
|
|
|
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
|
|
|
|
NM_015662.3(IFT172):c.2158del (p.Arg720fs)
|
rs587777086
|
|
|
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro)
|
rs202089120
|
|
|
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
|
|
|
|
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
|
|
|
|
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
|
|
|
|
NM_015662.3(IFT172):c.2178T>C (p.Ala726=)
|
rs2148507415
|
|
|
NM_015662.3(IFT172):c.2190C>T (p.Ala730=)
|
rs781352681
|
|
|
NM_015662.3(IFT172):c.2193+13T>C
|
rs947674391
|
|
|
NM_015662.3(IFT172):c.2193+14C>A
|
rs1666690784
|
|
|
NM_015662.3(IFT172):c.2193+16T>C
|
|
|
|
NM_015662.3(IFT172):c.2193+16_2193+18del
|
rs1215056367
|
|
|
NM_015662.3(IFT172):c.2193+18T>C
|
|
|
|
NM_015662.3(IFT172):c.2193+5C>T
|
rs2148507369
|
|
|
NM_015662.3(IFT172):c.2193+6T>G
|
rs2148507360
|
|
|
NM_015662.3(IFT172):c.2194-10G>T
|
rs1666669350
|
|
|
NM_015662.3(IFT172):c.2194-15T>G
|
rs1666669871
|
|
|
NM_015662.3(IFT172):c.2194-6G>T
|
|
|
|
NM_015662.3(IFT172):c.2194-8A>G
|
|
|
|
NM_015662.3(IFT172):c.2194-9C>A
|
|
|
|
NM_015662.3(IFT172):c.2197C>A (p.His733Asn)
|
rs774487712
|
|
|
NM_015662.3(IFT172):c.2199C>T (p.His733=)
|
rs146482086
|
|
|
NM_015662.3(IFT172):c.219T>A (p.Ala73=)
|
rs2148559300
|
|
|
NM_015662.3(IFT172):c.2209G>T (p.Glu737Ter)
|
|
|
|
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
|
|
|
|
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
|
|
|
|
NM_015662.3(IFT172):c.2224_2236dup (p.Trp746Ter)
|
|
|
|
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
|
|
|
|
NM_015662.3(IFT172):c.2233C>T (p.Gln745Ter)
|
|
|
|
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro)
|
rs765641043
|
|
|
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
|
|
|
|
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
|
|
|
|
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro)
|
rs78631901
|
|
|
NM_015662.3(IFT172):c.2277A>G (p.Leu759=)
|
rs2148506541
|
|
|
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
|
|
|
|
NM_015662.3(IFT172):c.2299C>T (p.Leu767=)
|
rs1666656398
|
|
|
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup)
|
rs1239784714
|
|
|
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met)
|
rs747166388
|
|
|
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
|
|
|
|
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val)
|
rs2148506384
|
|
|
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
|
|
|
|
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly)
|
rs202024173
|
|
|
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
|
|
|
|
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
|
|
|
|
NM_015662.3(IFT172):c.2403C>T (p.His801=)
|
|
|
|
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
|
|
|
|
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
|
|
|
|
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile)
|
rs933347695
|
|
|
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val)
|
rs933347695
|
|
|
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser)
|
rs2148506110
|
|
|
NM_015662.3(IFT172):c.2442+14C>T
|
|
|
|
NM_015662.3(IFT172):c.2442+5G>A
|
rs1666641444
|
|
|
NM_015662.3(IFT172):c.2442+9G>C
|
rs771351250
|
|
|
NM_015662.3(IFT172):c.2443-14G>T
|
rs1261651716
|
|
|
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
|
|
|
|
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val)
|
rs1666622337
|
|
|
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
|
|
|
|
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
|
|
|
|
NM_015662.3(IFT172):c.2487G>A (p.Leu829=)
|
rs2148505508
|
|
|
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp)
|
rs2148505488
|
|
|
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=)
|
rs377514145
|
|
|
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
|
|
|
|
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser)
|
rs1474467674
|
|
|
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
|
|
|
|
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
|
|
|
|
NM_015662.3(IFT172):c.2521+15T>A
|
|
|
|
NM_015662.3(IFT172):c.2521+1G>A
|
|
|
|
NM_015662.3(IFT172):c.2521+1G>T
|
rs2148505406
|
|
|
NM_015662.3(IFT172):c.2522-11C>T
|
|
|
|
NM_015662.3(IFT172):c.2522-15T>C
|
rs2148502867
|
|
|
NM_015662.3(IFT172):c.2523G>A (p.Ala841=)
|
|
|
|
NM_015662.3(IFT172):c.2532G>T (p.Leu844=)
|
rs1446552642
|
|
|
NM_015662.3(IFT172):c.2544C>G (p.Ala848=)
|
|
|
|
NM_015662.3(IFT172):c.2568A>G (p.Leu856=)
|
|
|
|
NM_015662.3(IFT172):c.2571G>A (p.Glu857=)
|
|
|
|
NM_015662.3(IFT172):c.2584dup (p.Asp862fs)
|
|
|
|
NM_015662.3(IFT172):c.2592G>A (p.Leu864=)
|
|
|
|
NM_015662.3(IFT172):c.2604G>A (p.Lys868=)
|
|
|
|
NM_015662.3(IFT172):c.2642+11A>T
|
|
|
|
NM_015662.3(IFT172):c.2642+12T>C
|
|
|
|
NM_015662.3(IFT172):c.2642+12T>G
|
rs775954601
|
|
|
NM_015662.3(IFT172):c.2642+18T>C
|
|
|
|
NM_015662.3(IFT172):c.2643-15T>C
|
|
|
|
NM_015662.3(IFT172):c.2643-18C>G
|
|
|
|
NM_015662.3(IFT172):c.2643-4C>T
|
|
|
|
NM_015662.3(IFT172):c.2646C>A (p.Cys882Ter)
|
rs1309394469
|
|
|
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
|
|
|
|
NM_015662.3(IFT172):c.2660T>C (p.Ile887Thr)
|
rs761267426
|
|
|
NM_015662.3(IFT172):c.2661T>C (p.Ile887=)
|
|
|
|
NM_015662.3(IFT172):c.2665G>T (p.Ala889Ser)
|
|
|
|
NM_015662.3(IFT172):c.2672_2680del (p.Leu891_Ala893del)
|
rs1169567028
|
|
|
NM_015662.3(IFT172):c.2674G>A (p.Gly892Ser)
|
|
|
|
NM_015662.3(IFT172):c.2685G>A (p.Gln895=)
|
|
|
|
NM_015662.3(IFT172):c.2691G>A (p.Lys897=)
|
|
|
|
NM_015662.3(IFT172):c.2696C>T (p.Ala899Val)
|
rs1666451473
|
|
|
NM_015662.3(IFT172):c.2715A>G (p.Leu905=)
|
rs985482566
|
|
|
NM_015662.3(IFT172):c.2741A>G (p.Tyr914Cys)
|
rs2148501580
|
|
|
NM_015662.3(IFT172):c.2747C>T (p.Pro916Leu)
|
|
|
|
NM_015662.3(IFT172):c.274G>C (p.Val92Leu)
|
rs2148559132
|
|
|
NM_015662.3(IFT172):c.2757C>G (p.Ala919=)
|
|
|
|
NM_015662.3(IFT172):c.275T>C (p.Val92Ala)
|
rs1306568500
|
|
|
NM_015662.3(IFT172):c.2760dup (p.His921fs)
|
|
|
|
NM_015662.3(IFT172):c.2765A>G (p.Tyr922Cys)
|
rs767901253
|
|
|
NM_015662.3(IFT172):c.2772C>T (p.Ser924=)
|
|
|
|
NM_015662.3(IFT172):c.2788-11A>G
|
|
|
|
NM_015662.3(IFT172):c.2788-12C>T
|
|
|
|
NM_015662.3(IFT172):c.2788-20C>T
|
|
|
|
NM_015662.3(IFT172):c.2800_2811dup (p.Lys937_Gly938insLeuTyrThrLys)
|
|
|
|
NM_015662.3(IFT172):c.2806A>G (p.Thr936Ala)
|
|
|
|
NM_015662.3(IFT172):c.2809A>G (p.Lys937Glu)
|
rs1000172880
|
|
|
NM_015662.3(IFT172):c.2811G>A (p.Lys937=)
|
rs1666401548
|
|
|
NM_015662.3(IFT172):c.2811G>T (p.Lys937Asn)
|
|
|
|
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr)
|
rs1668654872
|
|
|
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
|
|
|
|
NM_015662.3(IFT172):c.2833A>G (p.Ile945Val)
|
rs1477777983
|
|
|
NM_015662.3(IFT172):c.2839A>G (p.Met947Val)
|
rs774401568
|
|
|
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
|
|
|
|
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala)
|
rs1666396574
|
|
|
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
|
|
|
|
NM_015662.3(IFT172):c.2877+10G>A
|
rs2148500039
|
|
|
NM_015662.3(IFT172):c.2877+8T>C
|
|
|
|
NM_015662.3(IFT172):c.2878-19T>C
|
|
|
|
NM_015662.3(IFT172):c.2878-4A>G
|
|
|
|
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
|
|
|
|
NM_015662.3(IFT172):c.2884A>G (p.Met962Val)
|
rs541501287
|
|
|
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
|
|
|
|
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
|
|
|
|
NM_015662.3(IFT172):c.2905G>C (p.Asp969His)
|
rs1666329493
|
|
|
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu)
|
rs2148498608
|
|
|
NM_015662.3(IFT172):c.291A>G (p.Glu97=)
|
rs189236939
|
|
|
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
|
|
|
|
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
|
|
|
|
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
|
|
|
|
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
|
|
|
|
NM_015662.3(IFT172):c.297-15del
|
|
|
|
NM_015662.3(IFT172):c.2976-16G>A
|
|
|
|
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys)
|
rs2148557687
|
|
|
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
|
|
|
|
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
|
|
|
|
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
|
|
|
|
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His)
|
rs1666300541
|
|
|
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr)
|
rs372047259
|
|
|
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
|
|
|
|
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly)
|
rs1666295604
|
|
|
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
|
|
|
|
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg)
|
rs2148497488
|
|
|
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=)
|
rs1572750803
|
|
|
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
|
|
|
|
NM_015662.3(IFT172):c.3111+1G>T
|
|
|
|
NM_015662.3(IFT172):c.3111+20C>T
|
|
|
|
NM_015662.3(IFT172):c.3111+7C>T
|
|
|
|
NM_015662.3(IFT172):c.3112-15C>T
|
|
|
|
NM_015662.3(IFT172):c.3112-19C>G
|
rs1666279699
|
|
|
NM_015662.3(IFT172):c.3112-20C>T
|
|
|
|
NM_015662.3(IFT172):c.3112-7C>T
|
|
|
|
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
|
|
|
|
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
|
|
|
|
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
|
|
|
|
NM_015662.3(IFT172):c.312C>T (p.Val104=)
|
|
|
|
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)
|
|
|
|
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln)
|
rs1666273532
|
|
|
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
|
|
|
|
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln)
|
rs763117647
|
|
|
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu)
|
rs1666272023
|
|
|
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala)
|
rs550525758
|
|
|
NM_015662.3(IFT172):c.3196C>G (p.Arg1066Gly)
|
rs148997142
|
|
|
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys)
|
rs1666267648
|
|
|
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg)
|
rs1666267219
|
|
|
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=)
|
rs1666265665
|
|
|
NM_015662.3(IFT172):c.3228+20C>G
|
|
|
|
NM_015662.3(IFT172):c.3229-9G>T
|
|
|
|
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
|
|
|
|
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
|
|
|
|
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu)
|
rs542128061
|
|
|
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
|
|
|
|
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
|
|
|
|
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
|
|
|
|
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
|
|
|
|
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
|
|
|
|
NM_015662.3(IFT172):c.3312T>A (p.Val1104=)
|
rs2148494491
|
|
|
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del)
|
rs2148494469
|
|
|
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
|
|
|
|
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
|
|
|
|
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
|
|
|
|
NM_015662.3(IFT172):c.336+17T>G
|
rs980703626
|
|
|
NM_015662.3(IFT172):c.336+2T>G
|
|
|
|
NM_015662.3(IFT172):c.3371+12A>G
|
|
|
|
NM_015662.3(IFT172):c.3371+20C>T
|
|
|
|
NM_015662.3(IFT172):c.3372-20A>G
|
|
|
|
NM_015662.3(IFT172):c.3372-9C>T
|
rs755327956
|
|
|
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln)
|
rs1158499870
|
|
|
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
|
|
|
|
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln)
|
rs148624326
|
|
|
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr)
|
rs2148556996
|
|
|
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
|
|
|
|
NM_015662.3(IFT172):c.3426del (p.Glu1143fs)
|
|
|
|
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=)
|
rs2148490003
|
|
|
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
|
|
|
|
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=)
|
rs2148489948
|
|
|
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val)
|
rs769882549
|
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
|
NM_015662.3(IFT172):c.3465+11G>T
|
|
|
|
NM_015662.3(IFT172):c.3465+8T>C
|
|
|
|
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp)
|
rs935403723
|
|
|
NM_015662.3(IFT172):c.3466-11_3466-8del
|
rs773373497
|
|
|
NM_015662.3(IFT172):c.3466-13TC[2]
|
rs773373497
|
|
|
NM_015662.3(IFT172):c.3466-17C>T
|
rs2148489457
|
|
|
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg)
|
rs1665983486
|
|
|
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
|
|
|
|
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
|
|
|
|
NM_015662.3(IFT172):c.3511C>G (p.Pro1171Ala)
|
rs747503760
|
|
|
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
|
|
|
|
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
|
|
|
|
NM_015662.3(IFT172):c.3520G>C (p.Ala1174Pro)
|
|
|
|
NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)
|
|
|
|
NM_015662.3(IFT172):c.3530+17A>G
|
|
|
|
NM_015662.3(IFT172):c.3530+18T>C
|
rs2148489134
|
|
|
NM_015662.3(IFT172):c.3530+20C>A
|
|
|
|
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
|
|
|
|
NM_015662.3(IFT172):c.3580C>G (p.His1194Asp)
|
rs764965204
|
|
|
NM_015662.3(IFT172):c.3586C>T (p.Pro1196Ser)
|
rs1665955306
|
|
|
NM_015662.3(IFT172):c.3590A>G (p.Asp1197Gly)
|
rs760796294
|
|
|
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr)
|
rs377521375
|
|
|
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=)
|
rs1406584809
|
|
|
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=)
|
rs1406584809
|
|
|
NM_015662.3(IFT172):c.3604G>T (p.Val1202Leu)
|
|
|
|
NM_015662.3(IFT172):c.3607C>G (p.Leu1203Val)
|
rs2148488428
|
|
|
NM_015662.3(IFT172):c.3616C>G (p.Gln1206Glu)
|
rs1313893050
|
|
|
NM_015662.3(IFT172):c.3620C>T (p.Ala1207Val)
|
rs746530471
|
|
|
NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln)
|
rs758387302
|
|
|
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro)
|
rs758387302
|
|
|
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
|
|
|
|
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu)
|
rs765202929
|
|
|
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp)
|
rs532669006
|
|
|
NM_015662.3(IFT172):c.3634G>A (p.Glu1212Lys)
|
rs764315033
|
|
|
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
|
|
|
|
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
|
|
|
|
NM_015662.3(IFT172):c.3662G>C (p.Gly1221Ala)
|
rs1454157190
|
|
|
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=)
|
rs892273103
|
|
|
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
|
|
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
|
NM_015662.3(IFT172):c.3701A>G (p.Asn1234Ser)
|
|
|
|
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
|
|
|
|
NM_015662.3(IFT172):c.3711+8A>T
|
|
|
|
NM_015662.3(IFT172):c.3712-17C>A
|
rs760418910
|
|
|
NM_015662.3(IFT172):c.3712-18A>G
|
|
|
|
NM_015662.3(IFT172):c.3712-2A>T
|
|
|
|
NM_015662.3(IFT172):c.3712-6G>C
|
rs1665914988
|
|
|
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
|
|
|
|
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
|
|
|
|
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile)
|
rs145507269
|
|
|
NM_015662.3(IFT172):c.3730G>A (p.Asp1244Asn)
|
|
|
|
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
|
|
|
|
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=)
|
rs1665912193
|
|
|
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del)
|
rs763826196
|
|
|
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=)
|
rs1012597627
|
|
|
NM_015662.3(IFT172):c.3791A>T (p.Tyr1264Phe)
|
|
|
|
NM_015662.3(IFT172):c.3793G>C (p.Glu1265Gln)
|
|
|
|
NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)
|
|
|
|
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
|
|
|
|
NM_015662.3(IFT172):c.3811A>G (p.Lys1271Glu)
|
|
|
|
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
|
|
|
|
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
|
|
|
|
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
|
|
|
|
NM_015662.3(IFT172):c.3821+11A>T
|
|
|
|
NM_015662.3(IFT172):c.3821+5G>A
|
|
|
|
NM_015662.3(IFT172):c.3822-12_3822-11del
|
rs2148486525
|
|
|
NM_015662.3(IFT172):c.3822-13C>G
|
rs765929814
|
|
|
NM_015662.3(IFT172):c.3822-15C>T
|
|
|
|
NM_015662.3(IFT172):c.3822-2_3822-1del
|
|
|
|
NM_015662.3(IFT172):c.3822-5C>T
|
|
|
|
NM_015662.3(IFT172):c.3822-8C>T
|
|
|
|
NM_015662.3(IFT172):c.3824G>A (p.Gly1275Asp)
|
|
|
|
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val)
|
rs543062539
|
|
|
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
|
|
|
|
NM_015662.3(IFT172):c.3844C>A (p.Gln1282Lys)
|
rs1665885295
|
|
|
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
|
|
|
|
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter)
|
rs1366937730
|
|
|
NM_015662.3(IFT172):c.3855C>G (p.His1285Gln)
|
rs776343273
|
|
|
NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp)
|
rs768543764
|
|
|
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
|
|
|
|
NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys)
|
rs1665880862
|
|
|
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
|
|
|
|
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
|
|
|
|
NM_015662.3(IFT172):c.3902A>G (p.Lys1301Arg)
|
|
|
|
NM_015662.3(IFT172):c.3910G>T (p.Asp1304Tyr)
|
|
|
|
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
|
|
|
|
NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys)
|
rs377211687
|
|
|
NM_015662.3(IFT172):c.3925G>A (p.Gly1309Ser)
|
|
|
|
NM_015662.3(IFT172):c.3926G>A (p.Gly1309Asp)
|
|
|
|
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter)
|
rs2148485970
|
|
|
NM_015662.3(IFT172):c.3951+11C>G
|
|
|
|
NM_015662.3(IFT172):c.3951+11C>T
|
|
|
|
NM_015662.3(IFT172):c.3951+17C>T
|
|
|
|
NM_015662.3(IFT172):c.3951+18T>A
|
|
|
|
NM_015662.3(IFT172):c.3951+2_3951+5dup
|
rs2148485951
|
|
|
NM_015662.3(IFT172):c.3951+8C>T
|
|
|
|
NM_015662.3(IFT172):c.3952-14G>A
|
rs763108930
|
|
|
NM_015662.3(IFT172):c.3952-1G>C
|
rs2148479160
|
|
|
NM_015662.3(IFT172):c.3952-6A>C
|
rs908057940
|
|
|
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His)
|
rs768705269
|
|
|
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser)
|
rs768990688
|
|
|
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
|
|
|
|
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
|
|
|
|
NM_015662.3(IFT172):c.402+2T>C
|
|
|
|
NM_015662.3(IFT172):c.402+8A>G
|
|
|
|
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
|
|
|
|
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
|
|
|
|
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
|
|
|
|
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr)
|
rs762984875
|
|
|
NM_015662.3(IFT172):c.4050+2dup
|
rs2148478879
|
|
|
NM_015662.3(IFT172):c.4050+9del
|
|
|
|
NM_015662.3(IFT172):c.4051-13T>A
|
|
|
|
NM_015662.3(IFT172):c.4051-13del
|
rs756768673
|
|
|
NM_015662.3(IFT172):c.4051-1G>A
|
rs1665487115
|
|
|
NM_015662.3(IFT172):c.4051-8C>T
|
rs1183759904
|
|
|
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=)
|
rs747023555
|
|
|
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=)
|
rs758268726
|
|
|
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
|
|
|
|
NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)
|
|
|
|
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
|
|
|
|
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
|
|
|
|
NM_015662.3(IFT172):c.414A>C (p.Ala138=)
|
rs1668544883
|
|
|
NM_015662.3(IFT172):c.4160+19_4160+21del
|
rs760484345
|
|
|
NM_015662.3(IFT172):c.4161-10A>G
|
|
|
|
NM_015662.3(IFT172):c.4161-11C>T
|
|
|
|
NM_015662.3(IFT172):c.4161-18C>G
|
rs1558357557
|
|
|
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
|
|
|
|
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=)
|
rs1572722884
|
|
|
NM_015662.3(IFT172):c.4176G>C (p.Val1392=)
|
rs1243938107
|
|
|
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
|
|
|
|
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
|
|
|
|
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
|
|
|
|
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln)
|
rs148360112
|
|
|
NM_015662.3(IFT172):c.4194dup (p.Phe1399fs)
|
rs2148477695
|
|
|
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
|
|
|
|
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg)
|
rs1665458761
|
|
|
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
|
|
|
|
NM_015662.3(IFT172):c.4224+8T>C
|
|
|
|
NM_015662.3(IFT172):c.4225-17G>A
|
|
|
|
NM_015662.3(IFT172):c.4225-17G>C
|
|
|
|
NM_015662.3(IFT172):c.4225-19C>G
|
|
|
|
NM_015662.3(IFT172):c.4225-19_4225-18del
|
|
|
|
NM_015662.3(IFT172):c.4225-9T>C
|
|
|
|
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=)
|
rs748345321
|
|
|
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
|
|
|
|
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
|
|
|
|
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg)
|
rs1665443434
|
|
|
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn)
|
rs1665443007
|
|
|
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
|
|
|
|
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
|
|
|
|
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro)
|
rs1465201525
|
|
|
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg)
|
rs377646246
|
|
|
NM_015662.3(IFT172):c.4311+1G>A
|
rs2148477195
|
|
|
NM_015662.3(IFT172):c.4311+4C>T
|
|
|
|
NM_015662.3(IFT172):c.4311+6G>T
|
rs1210994251
|
|
|
NM_015662.3(IFT172):c.4312-4dup
|
|
|
|
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
|
|
|
|
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
|
|
|
|
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
|
|
|
|
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
|
|
|
|
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
|
|
|
|
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=)
|
rs1455837031
|
|
|
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp)
|
rs1219587063
|
|
|
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_015662.3(IFT172):c.4428+15C>T
|
|
|
|
NM_015662.3(IFT172):c.4429-178_4436del
|
|
|
|
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
|
|
|
|
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn)
|
rs371807689
|
|
|
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
|
|
|
|
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
|
|
|
|
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
|
|
|
|
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr)
|
rs149435148
|
|
|
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe)
|
rs149435148
|
|
|
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=)
|
rs774451726
|
|
|
NM_015662.3(IFT172):c.4493_4494del (p.Glu1498fs)
|
|
|
|
NM_015662.3(IFT172):c.44G>T (p.Gly15Val)
|
rs1572838053
|
|
|
NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)
|
|
|
|
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg)
|
rs1665288911
|
|
|
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=)
|
rs1244568496
|
|
|
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
|
|
|
|
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
|
|
|
|
NM_015662.3(IFT172):c.4540-15G>A
|
|
|
|
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
|
|
|
|
NM_015662.3(IFT172):c.455_462dup (p.Val155fs)
|
|
|
|
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
|
|
|
|
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
|
|
|
|
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
|
|
|
|
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu)
|
rs540171862
|
|
|
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
|
|
|
|
NM_015662.3(IFT172):c.4617T>C (p.His1539=)
|
rs1266021624
|
|
|
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
|
|
|
|
NM_015662.3(IFT172):c.463G>A (p.Val155Met)
|
rs149969430
|
|
|
NM_015662.3(IFT172):c.463G>C (p.Val155Leu)
|
rs149969430
|
|
|
NM_015662.3(IFT172):c.4642C>T (p.Gln1548Ter)
|
|
|
|
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile)
|
rs779801761
|
|
|
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His)
|
rs530107456
|
|
|
NM_015662.3(IFT172):c.4659+16T>A
|
rs143060452
|
|
|
NM_015662.3(IFT172):c.4660-5C>T
|
|
|
|
NM_015662.3(IFT172):c.4668G>T (p.Val1556=)
|
|
|
|
NM_015662.3(IFT172):c.466G>T (p.Val156Leu)
|
rs1401986067
|
|
|
NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys)
|
|
|
|
NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs)
|
rs1665095139
|
|
|
NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)
|
|
|
|
NM_015662.3(IFT172):c.4697G>A (p.Arg1566His)
|
|
|
|
NM_015662.3(IFT172):c.4701C>A (p.His1567Gln)
|
rs786205855
|
|
|
NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile)
|
|
|
|
NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys)
|
|
|
|
NM_015662.3(IFT172):c.4743C>G (p.Gly1581=)
|
|
|
|
NM_015662.3(IFT172):c.4749T>A (p.Ala1583=)
|
rs1160368460
|
|
|
NM_015662.3(IFT172):c.4755+20G>C
|
|
|
|
NM_015662.3(IFT172):c.4755+9G>A
|
rs375261962
|
|
|
NM_015662.3(IFT172):c.4756-13T>C
|
|
|
|
NM_015662.3(IFT172):c.4756-15T>A
|
|
|
|
NM_015662.3(IFT172):c.4756-17A>C
|
|
|
|
NM_015662.3(IFT172):c.4756-17A>T
|
rs753517897
|
|
|
NM_015662.3(IFT172):c.4756-20G>C
|
|
|
|
NM_015662.3(IFT172):c.4756-20G>T
|
|
|
|
NM_015662.3(IFT172):c.4756-5T>C
|
|
|
|
NM_015662.3(IFT172):c.4756-6C>G
|
|
|
|
NM_015662.3(IFT172):c.4756-9T>G
|
|
|
|
NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala)
|
rs1483735124
|
|
|
NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys)
|
rs770759155
|
|
|
NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile)
|
rs1042644207
|
|
|
NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu)
|
|
|
|
NM_015662.3(IFT172):c.4789dup (p.Leu1597fs)
|
rs2148467517
|
|
|
NM_015662.3(IFT172):c.4812C>G (p.Thr1604=)
|
rs369400518
|
|
|
NM_015662.3(IFT172):c.4812C>T (p.Thr1604=)
|
rs369400518
|
|
|
NM_015662.3(IFT172):c.4815+10G>A
|
rs759461544
|
|
|
NM_015662.3(IFT172):c.4815+10del
|
|
|
|
NM_015662.3(IFT172):c.4815+12A>G
|
rs774356097
|
|
|
NM_015662.3(IFT172):c.4815+16G>C
|
rs1296172696
|
|
|
NM_015662.3(IFT172):c.4815+1G>A
|
|
|
|
NM_015662.3(IFT172):c.4815+20C>G
|
|
|
|
NM_015662.3(IFT172):c.4815+2_4815+3del
|
rs2148467424
|
|
|
NM_015662.3(IFT172):c.4816-5T>C
|
|
|
|
NM_015662.3(IFT172):c.4816-9_4816-8del
|
rs777369595
|
|
|
NM_015662.3(IFT172):c.482+10G>C
|
|
|
|
NM_015662.3(IFT172):c.482+16T>G
|
|
|
|
NM_015662.3(IFT172):c.482+1G>A
|
|
|
|
NM_015662.3(IFT172):c.482+9A>G
|
|
|
|
NM_015662.3(IFT172):c.483-19C>T
|
|
|
|
NM_015662.3(IFT172):c.483-4T>C
|
rs1668525396
|
|
|
NM_015662.3(IFT172):c.483-7T>C
|
|
|
|
NM_015662.3(IFT172):c.483-9C>T
|
|
|
|
NM_015662.3(IFT172):c.4842C>T (p.Gly1614=)
|
|
|
|
NM_015662.3(IFT172):c.4851C>T (p.His1617=)
|
|
|
|
NM_015662.3(IFT172):c.4853del (p.Ser1618fs)
|
rs2148467030
|
|
|
NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser)
|
|
|
|
NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro)
|
rs1437853998
|
|
|
NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe)
|
|
|
|
NM_015662.3(IFT172):c.4902G>A (p.Lys1634=)
|
|
|
|
NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser)
|
|
|
|
NM_015662.3(IFT172):c.4914+13G>T
|
rs867633277
|
|
|
NM_015662.3(IFT172):c.4914+1G>A
|
|
|
|
NM_015662.3(IFT172):c.4914+20A>G
|
|
|
|
NM_015662.3(IFT172):c.4914+7G>A
|
|
|
|
NM_015662.3(IFT172):c.4915-16T>A
|
|
|
|
NM_015662.3(IFT172):c.4915-5T>C
|
|
|
|
NM_015662.3(IFT172):c.4915-5T>G
|
|
|
|
NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)
|
rs587777078
|
|
|
NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del)
|
rs1664979213
|
|
|
NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter)
|
|
|
|
NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys)
|
rs1664978966
|
|
|
NM_015662.3(IFT172):c.4950T>G (p.Leu1650=)
|
rs1238278691
|
|
|
NM_015662.3(IFT172):c.495A>G (p.Lys165=)
|
rs1202101296
|
|
|
NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)
|
rs529850410
|
|
|
NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter)
|
|
|
|
NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu)
|
rs1357445568
|
|
|
NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp)
|
rs2148465651
|
|
|
NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly)
|
rs2148465580
|
|
|
NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe)
|
|
|
|
NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser)
|
rs2148465499
|
|
|
NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile)
|
rs763335302
|
|
|
NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly)
|
|
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
|
NM_015662.3(IFT172):c.5049C>G (p.Ala1683=)
|
rs1285975087
|
|
|
NM_015662.3(IFT172):c.5068+14C>T
|
|
|
|
NM_015662.3(IFT172):c.5068+3A>G
|
rs1664957671
|
|
|
NM_015662.3(IFT172):c.5069-20C>A
|
|
|
|
NM_015662.3(IFT172):c.5069-2A>G
|
rs2148464837
|
|
|
NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val)
|
|
|
|
NM_015662.3(IFT172):c.5082G>C (p.Leu1694=)
|
|
|
|
NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)
|
|
|
|
NM_015662.3(IFT172):c.509G>T (p.Gly170Val)
|
rs770113267
|
|
|
NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln)
|
|
|
|
NM_015662.3(IFT172):c.5106G>A (p.Arg1702=)
|
rs2148464737
|
|
|
NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr)
|
|
|
|
NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val)
|
|
|
|
NM_015662.3(IFT172):c.5142A>G (p.Lys1714=)
|
|
|
|
NM_015662.3(IFT172):c.5154C>T (p.Ala1718=)
|
|
|
|
NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg)
|
rs755256585
|
|
|
NM_015662.3(IFT172):c.5160+12_5160+14del
|
|
|
|
NM_015662.3(IFT172):c.5160+13G>A
|
rs1185416215
|
|
|
NM_015662.3(IFT172):c.5160+14A>G
|
|
|
|
NM_015662.3(IFT172):c.5160+15C>T
|
|
|
|
NM_015662.3(IFT172):c.5160+16T>G
|
|
|
|
NM_015662.3(IFT172):c.5160+6A>G
|
rs2148464534
|
|
|
NM_015662.3(IFT172):c.5161-5C>G
|
|
|
|
NM_015662.3(IFT172):c.5161-5C>T
|
|
|
|
NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly)
|
rs148800421
|
|
|
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
|
|
|
|
NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn)
|
|
|
|
NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg)
|
rs2148462684
|
|
|
NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly)
|
rs1664849569
|
|
|
NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr)
|
rs2148462622
|
|
|
NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu)
|
rs2148462534
|
|
|
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
|
|
|
|
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
|
|
|
|
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
|
|
|
|
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
|
|
|
|
NM_015662.3(IFT172):c.555C>G (p.Gly185=)
|
rs750613450
|
|
|
NM_015662.3(IFT172):c.555C>T (p.Gly185=)
|
rs750613450
|
|
|
NM_015662.3(IFT172):c.570+14A>C
|
|
|
|
NM_015662.3(IFT172):c.570+19G>C
|
rs761066634
|
|
|
NM_015662.3(IFT172):c.570+3A>G
|
|
|
|
NM_015662.3(IFT172):c.571-12C>T
|
rs2148550539
|
|
|
NM_015662.3(IFT172):c.571-17C>T
|
|
|
|
NM_015662.3(IFT172):c.571-18C>T
|
|
|
|
NM_015662.3(IFT172):c.571-3T>A
|
|
|
|
NM_015662.3(IFT172):c.571-3T>C
|
|
|
|
NM_015662.3(IFT172):c.571-7G>C
|
|
|
|
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser)
|
rs267599319
|
|
|
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
|
|
|
|
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
|
|
|
|
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
|
|
|
|
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
|
|
|
|
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp)
|
rs909930223
|
|
|
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
|
|
|
|
NM_015662.3(IFT172):c.663C>G (p.Ala221=)
|
rs2148550253
|
|
|
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
|
|
|
|
NM_015662.3(IFT172):c.691del (p.Thr231fs)
|
|
|
|
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
|
|
|
|
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly)
|
rs146290725
|
|
|
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
|
|
|
|
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
|
|
|
|
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
|
|
|
|
NM_015662.3(IFT172):c.738T>C (p.Ala246=)
|
rs1365791183
|
|
|
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala)
|
rs1013134780
|
|
|
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
|
|
|
|
NM_015662.3(IFT172):c.763G>A (p.Val255Ile)
|
rs2148549986
|
|
|
NM_015662.3(IFT172):c.785+16A>G
|
|
|
|
NM_015662.3(IFT172):c.786-18C>G
|
rs773491435
|
|
|
NM_015662.3(IFT172):c.786-18C>T
|
|
|
|
NM_015662.3(IFT172):c.786-2A>G
|
|
|
|
NM_015662.3(IFT172):c.786-2A>T
|
|
|
|
NM_015662.3(IFT172):c.786-6T>G
|
|
|
|
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
|
|
|
|
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
|
|
|
|
NM_015662.3(IFT172):c.811C>T (p.Arg271Ter)
|
rs1250676888
|
|
|
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
|
|
|
|
NM_015662.3(IFT172):c.834A>G (p.Ala278=)
|
rs1221821042
|
|
|
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg)
|
rs1279126964
|
|
|
NM_015662.3(IFT172):c.843G>A (p.Lys281=)
|
rs1668252791
|
|
|
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser)
|
rs975683128
|
|
|
NM_015662.3(IFT172):c.875del (p.Leu292fs)
|
|
|
|
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
|
|
|
|
NM_015662.3(IFT172):c.894C>T (p.Gly298=)
|
rs2148547913
|
|
|
NM_015662.3(IFT172):c.909+11A>G
|
|
|
|
NM_015662.3(IFT172):c.909+17C>A
|
rs376213191
|
|
|
NM_015662.3(IFT172):c.909+17C>G
|
|
|
|
NM_015662.3(IFT172):c.909+3G>A
|
rs2148547848
|
|
|
NM_015662.3(IFT172):c.910-20G>A
|
|
|
|
NM_015662.3(IFT172):c.910-2A>G
|
rs2148546998
|
|
|
NM_015662.3(IFT172):c.910-8C>T
|
|
|
|
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp)
|
rs1553335843
|
|
|
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu)
|
rs749612277
|
|
|
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
|
|
|
|
NM_015662.3(IFT172):c.952C>T (p.Arg318Ter)
|
|
|
|
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys)
|
rs1002834084
|
|
|
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
|
|
|
|
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys)
|
rs370874046
|
|
|
NM_015662.3(IFT172):c.978dup (p.Glu327Ter)
|
|
|
|
NM_015662.3(IFT172):c.97G>C (p.Val33Leu)
|
rs2148559931
|
|
|
NM_015662.3(IFT172):c.984G>A (p.Leu328=)
|
|
|
|
NM_015702.3(MMADHC):c.10-11G>C
|
|
|
|
NM_015702.3(MMADHC):c.10-13G>A
|
|
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
|
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
|
|
|
|
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)
|
rs761480889
|
|
|
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
|
|
|
|
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
|
|
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
|
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
|
|
|
|
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
|
|
|
|
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
|
rs1190732521
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
|
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
|
|
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
|
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
|
rs2105049895
|
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
|
NM_015702.3(MMADHC):c.154+17A>C
|
|
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
|
NM_015702.3(MMADHC):c.154+20G>C
|
|
|
|
NM_015702.3(MMADHC):c.154+9A>T
|
rs2105049874
|
|
|
NM_015702.3(MMADHC):c.155-10T>C
|
|
|
|
NM_015702.3(MMADHC):c.155-11dup
|
rs1573878813
|
|
|
NM_015702.3(MMADHC):c.155-12_155-10del
|
|
|
|
NM_015702.3(MMADHC):c.155-16T>G
|
|
|
|
NM_015702.3(MMADHC):c.155-16del
|
|
|
|
NM_015702.3(MMADHC):c.155-17T>C
|
|
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
|
NM_015702.3(MMADHC):c.155-6C>T
|
|
|
|
NM_015702.3(MMADHC):c.155-7T>C
|
rs1305728146
|
|
|
NM_015702.3(MMADHC):c.155-8C>G
|
rs1349035917
|
|
|
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
|
|
|
|
NM_015702.3(MMADHC):c.168G>A (p.Val56=)
|
rs2105048289
|
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
|
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
|
rs2105048270
|
|
|
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
|
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
|
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
|
rs1327529103
|
|
|
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
|
|
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
|
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
|
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
|
NM_015702.3(MMADHC):c.249C>T (p.His83=)
|
|
|
|
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
|
|
|
|
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
|
|
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
|
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
|
|
|
|
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
|
|
|
|
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)
|
rs1053884096
|
|
|
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)
|
rs749344711
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
|
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
|
|
|
|
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
|
|
|
|
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
|
|
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
|
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
|
|
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
|
NM_015702.3(MMADHC):c.372+17A>G
|
|
|
|
NM_015702.3(MMADHC):c.372+8G>A
|
rs2105048110
|
|
|
NM_015702.3(MMADHC):c.372+8G>C
|
rs2105048110
|
|
|
NM_015702.3(MMADHC):c.372+8G>T
|
|
|
|
NM_015702.3(MMADHC):c.373-10dup
|
rs1682721920
|
|
|
NM_015702.3(MMADHC):c.373-13T>C
|
|
|
|
NM_015702.3(MMADHC):c.373-13T>G
|
|
|
|
NM_015702.3(MMADHC):c.373-14C>G
|
|
|
|
NM_015702.3(MMADHC):c.373-18T>C
|
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
|
NM_015702.3(MMADHC):c.373-4T>G
|
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
|
NM_015702.3(MMADHC):c.373-5C>T
|
|
|
|
NM_015702.3(MMADHC):c.373-8C>G
|
|
|
|
NM_015702.3(MMADHC):c.373-8C>T
|
|
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
|
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)
|
rs1682721203
|
|
|
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)
|
rs543128117
|
|
|
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
|
|
|
|
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
|
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
|
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)
|
rs374470946
|
|
|
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
|
rs1323984126
|
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
|
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
|
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
|
NM_015702.3(MMADHC):c.478+10G>A
|
|
|
|
NM_015702.3(MMADHC):c.478+12T>C
|
|
|
|
NM_015702.3(MMADHC):c.478+15A>T
|
|
|
|
NM_015702.3(MMADHC):c.478+19T>G
|
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
|
NM_015702.3(MMADHC):c.478+7C>A
|
|
|
|
NM_015702.3(MMADHC):c.478+7C>T
|
rs2105046042
|
|
|
NM_015702.3(MMADHC):c.478+8A>T
|
|
|
|
NM_015702.3(MMADHC):c.478+9T>C
|
rs1573877066
|
|
|
NM_015702.3(MMADHC):c.479-11_479-9del
|
rs777304368
|
|
|
NM_015702.3(MMADHC):c.479-13T>C
|
|
|
|
NM_015702.3(MMADHC):c.479-15T>A
|
|
|
|
NM_015702.3(MMADHC):c.479-18G>C
|
|
|
|
NM_015702.3(MMADHC):c.479-20A>G
|
|
|
|
NM_015702.3(MMADHC):c.479-4G>A
|
rs2105045611
|
|
|
NM_015702.3(MMADHC):c.479-6T>C
|
rs1682708794
|
|
|
NM_015702.3(MMADHC):c.479-7T>A
|
rs1246748373
|
|
|
NM_015702.3(MMADHC):c.479-7T>C
|
rs1246748373
|
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
|
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
|
|
|
|
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)
|
rs2105050018
|
|
|
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)
|
rs1347714473
|
|
|
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
|
|
|
|
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)
|
rs369822209
|
|
|
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
|
|
|
|
NM_015702.3(MMADHC):c.534A>G (p.Val178=)
|
rs1268371654
|
|
|
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
|
|
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
|
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
|
|
|
|
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
|
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
|
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
|
|
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
|
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
|
|
|
|
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
|
|
|
|
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)
|
rs2105045479
|
|
|
NM_015702.3(MMADHC):c.609+11C>G
|
|
|
|
NM_015702.3(MMADHC):c.609+13A>G
|
|
|
|
NM_015702.3(MMADHC):c.609+14T>C
|
|
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
|
NM_015702.3(MMADHC):c.609+8T>G
|
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
|
NM_015702.3(MMADHC):c.610-12C>T
|
|
|
|
NM_015702.3(MMADHC):c.610-13A>G
|
|
|
|
NM_015702.3(MMADHC):c.610-4G>A
|
rs776311269
|
|
|
NM_015702.3(MMADHC):c.610-8C>T
|
|
|
|
NM_015702.3(MMADHC):c.610-8del
|
|
|
|
NM_015702.3(MMADHC):c.610-9C>A
|
|
|
|
NM_015702.3(MMADHC):c.610-9C>G
|
|
|
|
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)
|
rs1573874420
|
|
|
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
|
|
|
|
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
|
|
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
|
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
|
|
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
|
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
|
rs2105042235
|
|
|
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
|
rs2105042231
|
|
|
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
|
|
|
|
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
|
rs766184567
|
|
|
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
|
|
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
|
NM_015702.3(MMADHC):c.696+16T>C
|
|
|
|
NM_015702.3(MMADHC):c.696+17T>A
|
|
|
|
NM_015702.3(MMADHC):c.697-10A>G
|
|
|
|
NM_015702.3(MMADHC):c.697-16G>A
|
|
|
|
NM_015702.3(MMADHC):c.697-17C>T
|
|
|
|
NM_015702.3(MMADHC):c.697-18del
|
|
|
|
NM_015702.3(MMADHC):c.697-21_697-7dup
|
|
|
|
NM_015702.3(MMADHC):c.697-4T>C
|
|
|
|
NM_015702.3(MMADHC):c.697-5C>T
|
|
|
|
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
|
rs550333538
|
|
|
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
|
|
|
|
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)
|
rs2105041533
|
|
|
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
|
|
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
|
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)
|
rs1682615780
|
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
|
NM_015702.3(MMADHC):c.819T>C (p.His273=)
|
rs752425275
|
|
|
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
|
rs1474967244
|
|
|
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
|
|
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
|
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)
|
rs2105041390
|
|
|
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
|
rs559044965
|
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
|
NM_015702.3(MMADHC):c.864T>C (p.His288=)
|
|
|
|
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)
|
rs1558844562
|
|
|
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
|
|
|
|
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)
|
rs746282965
|
|
|
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
|
rs746282965
|
|
|
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
|
|
|
|
NM_015702.3(MMADHC):c.9+12A>T
|
|
|
|
NM_015702.3(MMADHC):c.9+16C>T
|
|
|
|
NM_015702.3(MMADHC):c.9+17T>A
|
rs372601477
|
|
|
NM_015702.3(MMADHC):c.9+17T>G
|
|
|
|
NM_015702.3(MMADHC):c.9+18T>G
|
rs2105053453
|
|
|
NM_015702.3(MMADHC):c.9+19A>C
|
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
|
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
|
rs2105049979
|
|
|
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
|
|
|
|
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)
|
rs1366609158
|
|
|
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
|
rs368111926
|
|
|
NM_015979.4(MED23):c.4095+4355_4095+4358del
|
|
|
|
NM_016335.6(PRODH):c.1003A>G (p.Asn335Asp)
|
rs1044791075
|
|
|
NM_016335.6(PRODH):c.1005C>T (p.Asn335=)
|
rs149926285
|
|
|
NM_016335.6(PRODH):c.1011+12G>A
|
|
|
|
NM_016335.6(PRODH):c.1012-15G>A
|
|
|
|
NM_016335.6(PRODH):c.1012-16C>T
|
|
|
|
NM_016335.6(PRODH):c.1012-18C>T
|
|
|
|
NM_016335.6(PRODH):c.1012-3C>T
|
rs371062452
|
|
|
NM_016335.6(PRODH):c.1021C>T (p.Leu341=)
|
|
|
|
NM_016335.6(PRODH):c.1036T>G (p.Ser346Ala)
|
rs2081951548
|
|
|
NM_016335.6(PRODH):c.1049A>G (p.Glu350Gly)
|
|
|
|
NM_016335.6(PRODH):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_016335.6(PRODH):c.1071C>G (p.Thr357=)
|
|
|
|
NM_016335.6(PRODH):c.1085G>A (p.Arg362Gln)
|
|
|
|
NM_016335.6(PRODH):c.1091A>G (p.Asp364Gly)
|
rs1057524390
|
|
|
NM_016335.6(PRODH):c.1098G>T (p.Leu366=)
|
rs2146211029
|
|
|
NM_016335.6(PRODH):c.10A>C (p.Arg4=)
|
|
|
|
NM_016335.6(PRODH):c.1104+2T>C
|
|
|
|
NM_016335.6(PRODH):c.1105-13C>G
|
|
|
|
NM_016335.6(PRODH):c.1105-14C>A
|
|
|
|
NM_016335.6(PRODH):c.1105-14C>G
|
|
|
|
NM_016335.6(PRODH):c.1105-14C>T
|
rs1076466
|
|
|
NM_016335.6(PRODH):c.1105-9G>A
|
|
|
|
NM_016335.6(PRODH):c.1127G>A (p.Arg376Gln)
|
|
|
|
NM_016335.6(PRODH):c.1133T>A (p.Met378Lys)
|
rs752953633
|
|
|
NM_016335.6(PRODH):c.1152C>G (p.Thr384=)
|
|
|
|
NM_016335.6(PRODH):c.1163C>T (p.Pro388Leu)
|
rs147233639
|
|
|
NM_016335.6(PRODH):c.1164G>A (p.Pro388=)
|
rs773989059
|
|
|
NM_016335.6(PRODH):c.1182G>C (p.Thr394=)
|
|
|
|
NM_016335.6(PRODH):c.118G>C (p.Gly40Arg)
|
rs780423887
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NM_016335.6(PRODH):c.1190T>G (p.Met397Arg)
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NM_016335.6(PRODH):c.1238A>C (p.Gln413Pro)
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NM_016335.6(PRODH):c.123G>A (p.Gly41=)
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NM_016335.6(PRODH):c.1251+6C>T
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NM_016335.6(PRODH):c.1251+7C>T
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NM_016335.6(PRODH):c.1278C>A (p.Asp426Glu)
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NM_016335.6(PRODH):c.128C>T (p.Ala43Val)
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NM_016335.6(PRODH):c.129C>G (p.Ala43=)
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NM_016335.6(PRODH):c.1301G>A (p.Gly434Asp)
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NM_016335.6(PRODH):c.1310T>C (p.Phe437Ser)
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NM_016335.6(PRODH):c.1328G>A (p.Arg443Gln)
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NM_016335.6(PRODH):c.1344C>G (p.Ala448=)
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NM_016335.6(PRODH):c.1350G>T (p.Glu450Asp)
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NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser)
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rs2081943034
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NM_016335.6(PRODH):c.1373G>A (p.Gly458Asp)
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NM_016335.6(PRODH):c.1386C>A (p.Pro462=)
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NM_016335.6(PRODH):c.1390A>C (p.Asn464His)
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rs2146209436
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NM_016335.6(PRODH):c.1395C>T (p.Pro465=)
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NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys)
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rs2870984
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NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys)
|
rs372618210
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NM_016335.6(PRODH):c.1413C>T (p.Asn471=)
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NM_016335.6(PRODH):c.1418T>C (p.Met473Thr)
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rs1555890224
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NM_016335.6(PRODH):c.1427+20C>G
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NM_016335.6(PRODH):c.1427+4C>T
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NM_016335.6(PRODH):c.1428-15T>C
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NM_016335.6(PRODH):c.1464C>T (p.Asn488=)
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NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser)
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rs1241975657
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NM_016335.6(PRODH):c.1497T>A (p.Asn499Lys)
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NM_016335.6(PRODH):c.1515T>C (p.Phe505=)
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rs455072
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NM_016335.6(PRODH):c.1515_1516inv (p.Ala506Thr)
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NM_016335.6(PRODH):c.151C>T (p.Pro51Ser)
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NM_016335.6(PRODH):c.1526+15C>T
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NM_016335.6(PRODH):c.1527-11C>T
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NM_016335.6(PRODH):c.1527-19C>T
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NM_016335.6(PRODH):c.1527-3C>T
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rs2146205858
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NM_016335.6(PRODH):c.1527-9C>T
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NM_016335.6(PRODH):c.152C>T (p.Pro51Leu)
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NM_016335.6(PRODH):c.1531G>A (p.Glu511Lys)
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NM_016335.6(PRODH):c.1544T>G (p.Leu515Arg)
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NM_016335.6(PRODH):c.1558C>T (p.His520Tyr)
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NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter)
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rs372187772
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NM_016335.6(PRODH):c.1611G>A (p.Pro537=)
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NM_016335.6(PRODH):c.1612C>A (p.Leu538Met)
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NM_016335.6(PRODH):c.1615+13C>G
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NM_016335.6(PRODH):c.1615+20G>C
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NM_016335.6(PRODH):c.1615+20G>T
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NM_016335.6(PRODH):c.1616-16A>T
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NM_016335.6(PRODH):c.1616-20G>A
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NM_016335.6(PRODH):c.1616-4G>A
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NM_016335.6(PRODH):c.1617C>T (p.Gly539=)
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NM_016335.6(PRODH):c.1623C>G (p.Ala541=)
|
rs16983347
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NM_016335.6(PRODH):c.1632C>T (p.Pro544=)
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NM_016335.6(PRODH):c.1633G>A (p.Val545Met)
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NM_016335.6(PRODH):c.1644C>T (p.Tyr548=)
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NM_016335.6(PRODH):c.1660G>A (p.Val554Met)
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NM_016335.6(PRODH):c.1674G>A (p.Leu558=)
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NM_016335.6(PRODH):c.1704C>T (p.Asn568=)
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NM_016335.6(PRODH):c.1748G>T (p.Trp583Leu)
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NM_016335.6(PRODH):c.1758C>T (p.Leu586=)
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NM_016335.6(PRODH):c.175C>T (p.Gln59Ter)
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NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln)
|
rs779412444
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NM_016335.6(PRODH):c.1791T>G (p.His597Gln)
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NM_016335.6(PRODH):c.1792C>T (p.Arg598Cys)
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NM_016335.6(PRODH):c.1793G>A (p.Arg598His)
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NM_016335.6(PRODH):c.1803G>A (p.Ter601=)
|
rs1183388799
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NM_016335.6(PRODH):c.187C>T (p.Arg63Cys)
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NM_016335.6(PRODH):c.18C>A (p.Ala6=)
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NM_016335.6(PRODH):c.18C>T (p.Ala6=)
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NM_016335.6(PRODH):c.193C>T (p.Arg65Trp)
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NM_016335.6(PRODH):c.19C>T (p.Leu7=)
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NM_016335.6(PRODH):c.1A>G (p.Met1Val)
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rs1036292619
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NM_016335.6(PRODH):c.21G>A (p.Leu7=)
|
rs539772713
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NM_016335.6(PRODH):c.21G>C (p.Leu7=)
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NM_016335.6(PRODH):c.223C>A (p.Leu75Met)
|
rs1391433654
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NM_016335.6(PRODH):c.22C>T (p.Pro8Ser)
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rs944412642
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NM_016335.6(PRODH):c.236T>A (p.Leu79Ter)
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rs2146223995
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NM_016335.6(PRODH):c.237G>C (p.Leu79Phe)
|
rs2008733
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NM_016335.6(PRODH):c.249C>G (p.Pro83=)
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NM_016335.6(PRODH):c.24C>T (p.Pro8=)
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NM_016335.6(PRODH):c.255G>C (p.Leu85=)
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NM_016335.6(PRODH):c.268G>A (p.Glu90Lys)
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rs1023813331
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NM_016335.6(PRODH):c.270G>A (p.Glu90=)
|
rs562699700
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NM_016335.6(PRODH):c.273+16G>A
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NM_016335.6(PRODH):c.273G>A (p.Gln91=)
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rs2146223897
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NM_016335.6(PRODH):c.296T>G (p.Leu99Arg)
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NM_016335.6(PRODH):c.298C>G (p.Leu100Val)
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NM_016335.6(PRODH):c.305A>G (p.Gln102Arg)
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NM_016335.6(PRODH):c.309G>T (p.Arg103Ser)
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NM_016335.6(PRODH):c.323del (p.Leu108fs)
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NM_016335.6(PRODH):c.336C>T (p.Thr112=)
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NM_016335.6(PRODH):c.350T>C (p.Phe117Ser)
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NM_016335.6(PRODH):c.357C>T (p.Ala119=)
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NM_016335.6(PRODH):c.358G>A (p.Gly120Arg)
|
rs979499476
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NM_016335.6(PRODH):c.369G>A (p.Gln123=)
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NM_016335.6(PRODH):c.379C>T (p.Gln127Ter)
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NM_016335.6(PRODH):c.383C>T (p.Pro128Leu)
|
rs2146219914
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NM_016335.6(PRODH):c.38dup (p.Cys13fs)
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NM_016335.6(PRODH):c.408C>T (p.Phe136=)
|
rs143311513
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NM_016335.6(PRODH):c.418G>A (p.Ala140Thr)
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NM_016335.6(PRODH):c.41T>C (p.Ile14Thr)
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NM_016335.6(PRODH):c.456C>G (p.Pro152=)
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NM_016335.6(PRODH):c.457del (p.Glu153fs)
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NM_016335.6(PRODH):c.482+13C>T
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NM_016335.6(PRODH):c.482+15G>A
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NM_016335.6(PRODH):c.482+6G>A
|
rs571651683
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NM_016335.6(PRODH):c.483-10C>T
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NM_016335.6(PRODH):c.486C>G (p.Ser162=)
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NM_016335.6(PRODH):c.510T>A (p.Asp170Glu)
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NM_016335.6(PRODH):c.517+17C>T
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NM_016335.6(PRODH):c.518-19C>T
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NM_016335.6(PRODH):c.518-4C>T
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NM_016335.6(PRODH):c.522_526dup (p.Lys176fs)
|
rs1305005935
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NM_016335.6(PRODH):c.531_532delinsTA (p.Asp178Asn)
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NM_016335.6(PRODH):c.543C>A (p.Tyr181Ter)
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NM_016335.6(PRODH):c.54C>T (p.Val18=)
|
rs1032634465
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NM_016335.6(PRODH):c.553_554inv (p.Trp185Gln)
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NM_016335.6(PRODH):c.561C>T (p.Phe187=)
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NM_016335.6(PRODH):c.57G>A (p.Pro19=)
|
rs1479974810
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NM_016335.6(PRODH):c.583A>G (p.Ile195Val)
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NM_016335.6(PRODH):c.593G>T (p.Arg198Leu)
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NM_016335.6(PRODH):c.609C>T (p.Ala203=)
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NM_016335.6(PRODH):c.610A>G (p.Asn204Asp)
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NM_016335.6(PRODH):c.611A>G (p.Asn204Ser)
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NM_016335.6(PRODH):c.612T>C (p.Asn204=)
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NM_016335.6(PRODH):c.649C>T (p.Arg217Cys)
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NM_016335.6(PRODH):c.668-5G>A
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NM_016335.6(PRODH):c.679G>A (p.Asp227Asn)
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NM_016335.6(PRODH):c.697A>C (p.Ile233Leu)
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NM_016335.6(PRODH):c.69G>T (p.Ala23=)
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NM_016335.6(PRODH):c.6T>C (p.Ala2=)
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NM_016335.6(PRODH):c.721C>T (p.Pro241Ser)
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NM_016335.6(PRODH):c.730C>T (p.Leu244=)
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NM_016335.6(PRODH):c.732+14C>A
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NM_016335.6(PRODH):c.733-13C>T
|
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NM_016335.6(PRODH):c.733-5del
|
rs3216765
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NM_016335.6(PRODH):c.733C>T (p.Leu245=)
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NM_016335.6(PRODH):c.767G>T (p.Cys256Phe)
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NM_016335.6(PRODH):c.803C>T (p.Ala268Val)
|
rs375358521
|
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NM_016335.6(PRODH):c.804G>A (p.Ala268=)
|
rs1174381102
|
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NM_016335.6(PRODH):c.81C>A (p.Arg27=)
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NM_016335.6(PRODH):c.824C>A (p.Thr275Asn)
|
rs5747933
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NM_016335.6(PRODH):c.829C>A (p.Leu277Met)
|
rs143408578
|
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NM_016335.6(PRODH):c.829C>T (p.Leu277=)
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NM_016335.6(PRODH):c.849+16_849+17del
|
rs2146213055
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NM_016335.6(PRODH):c.850-10A>G
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NM_016335.6(PRODH):c.850-18G>C
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NM_016335.6(PRODH):c.858C>T (p.Val286=)
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NM_016335.6(PRODH):c.87G>A (p.Gln29=)
|
rs1417739533
|
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NM_016335.6(PRODH):c.880A>G (p.Arg294Gly)
|
rs2081960374
|
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NM_016335.6(PRODH):c.891T>A (p.Ile297=)
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NM_016335.6(PRODH):c.90C>T (p.Pro30=)
|
rs2146224247
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NM_016335.6(PRODH):c.925T>C (p.Ser309Pro)
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NM_016335.6(PRODH):c.929+12C>G
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NM_016335.6(PRODH):c.929+3G>A
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NM_016335.6(PRODH):c.92C>T (p.Ala31Val)
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NM_016335.6(PRODH):c.930-14G>A
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NM_016335.6(PRODH):c.930-15C>T
|
rs201272622
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NM_016335.6(PRODH):c.933C>T (p.Thr311=)
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NM_016335.6(PRODH):c.933_934inv (p.Met312Val)
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NM_016335.6(PRODH):c.964G>A (p.Asp322Asn)
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NM_016335.6(PRODH):c.969_972del (p.Ser323fs)
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NM_016335.6(PRODH):c.972G>A (p.Arg324=)
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NM_016335.6(PRODH):c.981G>A (p.Leu327=)
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NM_016335.6(PRODH):c.9G>A (p.Leu3=)
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NM_016579.4(CD320):c.111G>T (p.Pro37=)
|
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NM_016579.4(CD320):c.11G>A (p.Gly4Asp)
|
rs2232774
|
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NM_016579.4(CD320):c.11G>C (p.Gly4Ala)
|
rs2232774
|
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NM_016579.4(CD320):c.139G>C (p.Ala47Pro)
|
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NM_016579.4(CD320):c.142+10G>A
|
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NM_016579.4(CD320):c.142+4A>G
|
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NM_016579.4(CD320):c.143-5C>T
|
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NM_016579.4(CD320):c.166C>T (p.Pro56Ser)
|
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NM_016579.4(CD320):c.167C>T (p.Pro56Leu)
|
rs1329946054
|
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NM_016579.4(CD320):c.168_171del (p.Thr57fs)
|
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NM_016579.4(CD320):c.178C>T (p.Gln60Ter)
|
rs1281977713
|
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NM_016579.4(CD320):c.179A>T (p.Gln60Leu)
|
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NM_016579.4(CD320):c.195_223del (p.Leu66fs)
|
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NM_016579.4(CD320):c.229G>A (p.Asp77Asn)
|
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NM_016579.4(CD320):c.240C>T (p.Cys80=)
|
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NM_016579.4(CD320):c.242G>A (p.Ser81Asn)
|
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|
NM_016579.4(CD320):c.245A>T (p.Asp82Val)
|
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|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
|
NM_016579.4(CD320):c.268+15C>T
|
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|
NM_016579.4(CD320):c.268+4A>C
|
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NM_016579.4(CD320):c.302C>G (p.Pro101Arg)
|
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|
NM_016579.4(CD320):c.305C>T (p.Pro102Leu)
|
rs767897892
|
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NM_016579.4(CD320):c.314G>T (p.Gly105Val)
|
|
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|
NM_016579.4(CD320):c.32C>T (p.Ala11Val)
|
rs567898376
|
|
|
NM_016579.4(CD320):c.337G>A (p.Val113Ile)
|
|
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|
NM_016579.4(CD320):c.350C>T (p.Ser117Phe)
|
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|
NM_016579.4(CD320):c.356G>T (p.Gly119Val)
|
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|
NM_016579.4(CD320):c.386G>T (p.Arg129Leu)
|
rs139064611
|
|
|
NM_016579.4(CD320):c.412C>A (p.Arg138Ser)
|
rs201166605
|
|
|
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
|
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|
NM_016579.4(CD320):c.446C>T (p.Thr149Met)
|
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|
NM_016579.4(CD320):c.451C>T (p.Arg151Cys)
|
rs769150463
|
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|
NM_016579.4(CD320):c.456C>T (p.Cys152=)
|
rs758485696
|
|
|
NM_016579.4(CD320):c.477C>A (p.Pro159=)
|
rs201828443
|
|
|
NM_016579.4(CD320):c.486C>T (p.Ser162=)
|
|
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|
NM_016579.4(CD320):c.487G>A (p.Asp163Asn)
|
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|
NM_016579.4(CD320):c.495C>G (p.Leu165=)
|
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|
NM_016579.4(CD320):c.495C>T (p.Leu165=)
|
rs199545496
|
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|
NM_016579.4(CD320):c.502+13G>C
|
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|
NM_016579.4(CD320):c.502+3A>G
|
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NM_016579.4(CD320):c.502G>A (p.Gly168Arg)
|
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|
NM_016579.4(CD320):c.503-17G>T
|
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|
|
NM_016579.4(CD320):c.503-18C>T
|
rs114265368
|
|
|
NM_016579.4(CD320):c.506C>T (p.Thr169Ile)
|
|
|
|
NM_016579.4(CD320):c.509A>G (p.Asn170Ser)
|
|
|
|
NM_016579.4(CD320):c.521C>T (p.Pro174Leu)
|
|
|
|
NM_016579.4(CD320):c.522G>A (p.Pro174=)
|
rs79658260
|
|
|
NM_016579.4(CD320):c.551C>T (p.Pro184Leu)
|
|
|
|
NM_016579.4(CD320):c.555G>A (p.Val185=)
|
|
|
|
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)
|
|
|
|
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)
|
|
|
|
NM_016579.4(CD320):c.599G>T (p.Gly200Val)
|
|
|
|
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup)
|
rs750768529
|
|
|
NM_016579.4(CD320):c.622_624del (p.Val208del)
|
|
|
|
NM_016579.4(CD320):c.633C>T (p.Val211=)
|
|
|
|
NM_016579.4(CD320):c.634G>A (p.Gly212Arg)
|
|
|
|
NM_016579.4(CD320):c.634G>T (p.Gly212Trp)
|
rs550390075
|
|
|
NM_016579.4(CD320):c.660A>C (p.Gly220=)
|
|
|
|
NM_016579.4(CD320):c.679A>G (p.Thr227Ala)
|
rs766740010
|
|
|
NM_016579.4(CD320):c.681T>C (p.Thr227=)
|
|
|
|
NM_016579.4(CD320):c.685T>C (p.Tyr229His)
|
|
|
|
NM_016579.4(CD320):c.6C>T (p.Ser2=)
|
rs749442494
|
|
|
NM_016579.4(CD320):c.708G>A (p.Ala236=)
|
rs768870573
|
|
|
NM_016579.4(CD320):c.708G>T (p.Ala236=)
|
|
|
|
NM_016579.4(CD320):c.75C>T (p.Leu25=)
|
rs371432802
|
|
|
NM_016579.4(CD320):c.760C>A (p.Arg254=)
|
rs750760449
|
|
|
NM_016579.4(CD320):c.76G>A (p.Gly26Ser)
|
|
|
|
NM_016579.4(CD320):c.800C>T (p.Ala267Val)
|
|
|
|
NM_016579.4(CD320):c.839C>T (p.Ser280Leu)
|
|
|
|
NM_016579.4(CD320):c.96G>C (p.Glu32Asp)
|
|
|
|
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
|
|
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
|
NM_018368.4(LMBRD1):c.1083+11_1083+14del
|
|
|
|
NM_018368.4(LMBRD1):c.1083+12A>T
|
|
|
|
NM_018368.4(LMBRD1):c.1083+15A>C
|
|
|
|
NM_018368.4(LMBRD1):c.1083+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1084-12dup
|
rs757172535
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>A
|
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.1084-20A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1084-3dup
|
|
|
|
NM_018368.4(LMBRD1):c.1084-4del
|
rs757172535
|
|
|
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
|
|
|
|
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
|
|
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
|
|
|
|
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
|
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
|
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
|
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
|
NM_018368.4(LMBRD1):c.1188+10T>A
|
|
|
|
NM_018368.4(LMBRD1):c.1188+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-12T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-13C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1189-17C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1189-19G>C
|
rs767672251
|
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>G
|
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>T
|
rs199650812
|
|
|
NM_018368.4(LMBRD1):c.1189-8C>A
|
|
|
|
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
|
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
|
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
|
|
|
|
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
|
|
|
|
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
|
|
|
|
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
|
|
|
|
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
|
|
|
|
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
|
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
|
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
|
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
|
|
|
|
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
|
|
|
|
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
|
|
|
|
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
|
NM_018368.4(LMBRD1):c.1339-12T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1339-18T>A
|
|
|
|
NM_018368.4(LMBRD1):c.1339-8T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
|
|
|
|
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
|
|
|
|
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
|
|
|
|
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
|
|
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
|
|
|
|
NM_018368.4(LMBRD1):c.1417+12T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1418-14A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
|
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
|
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
|
|
|
|
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
|
|
|
|
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
|
|
|
|
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
|
|
|
|
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
|
|
|
|
NM_018368.4(LMBRD1):c.1509+12T>C
|
rs2149832420
|
|
|
NM_018368.4(LMBRD1):c.1509+13A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1509+15C>T
|
|
|
|
NM_018368.4(LMBRD1):c.1509+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1509+20G>A
|
rs116095397
|
|
|
NM_018368.4(LMBRD1):c.1509+7G>A
|
|
|
|
NM_018368.4(LMBRD1):c.1510-11T>C
|
|
|
|
NM_018368.4(LMBRD1):c.1510-16T>G
|
|
|
|
NM_018368.4(LMBRD1):c.1510-4A>G
|
|
|
|
NM_018368.4(LMBRD1):c.1510-9A>C
|
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
|
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
|
|
|
|
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
|
|
|
|
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
|
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
|
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
|
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
|
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
|
|
|
|
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
|
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
|
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
|
|
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
|
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
|
|
|
|
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
|
|
|
|
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
|
|
|
|
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
|
|
|
|
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
|
|
|
|
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
|
|
|
|
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
|
NM_018368.4(LMBRD1):c.246+10A>G
|
|
|
|
NM_018368.4(LMBRD1):c.246+16C>T
|
|
|
|
NM_018368.4(LMBRD1):c.247-13C>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-14T>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-17G>A
|
|
|
|
NM_018368.4(LMBRD1):c.247-20A>G
|
|
|
|
NM_018368.4(LMBRD1):c.247-6T>C
|
|
|
|
NM_018368.4(LMBRD1):c.247-8T>A
|
rs769329039
|
|
|
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
|
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=)
|
rs769952932
|
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
|
NM_018368.4(LMBRD1):c.307+13C>T
|
|
|
|
NM_018368.4(LMBRD1):c.307+15G>A
|
|
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
|
NM_018368.4(LMBRD1):c.308-17A>G
|
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.308-5C>T
|
|
|
|
NM_018368.4(LMBRD1):c.308-6C>T
|
|
|
|
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
|
|
|
|
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
|
|
|
|
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
|
|
|
|
NM_018368.4(LMBRD1):c.357C>T (p.Val119=)
|
rs2149877968
|
|
|
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
|
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
|
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
|
|
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
|
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
|
|
|
|
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
|
|
|
|
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
|
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
|
NM_018368.4(LMBRD1):c.405+17T>A
|
|
|
|
NM_018368.4(LMBRD1):c.405+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.405+19G>C
|
|
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
|
NM_018368.4(LMBRD1):c.405+9C>A
|
|
|
|
NM_018368.4(LMBRD1):c.406-18T>C
|
|
|
|
NM_018368.4(LMBRD1):c.406-8G>A
|
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
|
|
|
|
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
|
|
|
|
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
|
|
|
|
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
|
|
|
|
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
|
|
|
|
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
|
|
|
|
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
|
|
|
|
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
|
|
|
|
NM_018368.4(LMBRD1):c.473+10G>C
|
|
|
|
NM_018368.4(LMBRD1):c.473+11A>T
|
|
|
|
NM_018368.4(LMBRD1):c.474-16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.474-4G>A
|
|
|
|
NM_018368.4(LMBRD1):c.474-6T>C
|
|
|
|
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
|
|
|
|
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
|
|
|
|
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
|
|
|
|
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
|
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
|
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
|
|
|
|
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
|
|
|
|
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
|
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.562+10G>T
|
|
|
|
NM_018368.4(LMBRD1):c.562+13T>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+14T>G
|
|
|
|
NM_018368.4(LMBRD1):c.562+15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+18del
|
|
|
|
NM_018368.4(LMBRD1):c.562+18dup
|
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
|
NM_018368.4(LMBRD1):c.562+7A>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-10T>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-11T>C
|
rs1767012664
|
|
|
NM_018368.4(LMBRD1):c.563-13del
|
|
|
|
NM_018368.4(LMBRD1):c.563-15T>A
|
|
|
|
NM_018368.4(LMBRD1):c.563-18G>A
|
|
|
|
NM_018368.4(LMBRD1):c.563-19A>C
|
|
|
|
NM_018368.4(LMBRD1):c.563-19A>G
|
|
|
|
NM_018368.4(LMBRD1):c.563-20_563-19del
|
|
|
|
NM_018368.4(LMBRD1):c.563-6del
|
|
|
|
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
|
|
|
|
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
|
|
|
|
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
|
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
|
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=)
|
rs2149901083
|
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
|
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
|
|
|
|
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
|
|
|
|
NM_018368.4(LMBRD1):c.636+13G>A
|
|
|
|
NM_018368.4(LMBRD1):c.636+18A>G
|
|
|
|
NM_018368.4(LMBRD1):c.636+19A>C
|
|
|
|
NM_018368.4(LMBRD1):c.636+7G>T
|
|
|
|
NM_018368.4(LMBRD1):c.637-15T>A
|
|
|
|
NM_018368.4(LMBRD1):c.637-15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.637-8T>C
|
|
|
|
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
|
|
|
|
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
|
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
|
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
|
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
|
|
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
|
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
|
|
|
|
NM_018368.4(LMBRD1):c.69+10G>T
|
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|
|
NM_018368.4(LMBRD1):c.69+11C>G
|
|
|
|
NM_018368.4(LMBRD1):c.69+11C>T
|
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|
|
NM_018368.4(LMBRD1):c.69+12G>A
|
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|
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NM_018368.4(LMBRD1):c.69+15T>C
|
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|
|
NM_018368.4(LMBRD1):c.69+17G>C
|
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NM_018368.4(LMBRD1):c.69+1G>A
|
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|
|
NM_018368.4(LMBRD1):c.69+20T>C
|
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|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
|
NM_018368.4(LMBRD1):c.69+8dup
|
|
|
|
NM_018368.4(LMBRD1):c.69+9G>A
|
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|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
|
rs753043203
|
|
|
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
|
|
|
|
NM_018368.4(LMBRD1):c.70-20C>G
|
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
|
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
|
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
|
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
|
|
|
|
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
|
|
|
|
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
|
|
|
|
NM_018368.4(LMBRD1):c.762+11G>A
|
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|
|
NM_018368.4(LMBRD1):c.762+12T>C
|
|
|
|
NM_018368.4(LMBRD1):c.762+15T>C
|
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
|
NM_018368.4(LMBRD1):c.762+7T>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-10T>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-11G>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-13C>A
|
|
|
|
NM_018368.4(LMBRD1):c.763-19T>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
|
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
|
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
|
|
|
|
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
|
|
|
|
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
|
|
|
|
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
|
|
|
|
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
|
|
|
|
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
|
|
|
|
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
|
|
|
|
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
|
|
|
|
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
|
|
|
|
NM_018368.4(LMBRD1):c.915+16A>G
|
|
|
|
NM_018368.4(LMBRD1):c.915+16A>T
|
|
|
|
NM_018368.4(LMBRD1):c.915+18A>T
|
|
|
|
NM_018368.4(LMBRD1):c.915+19A>G
|
|
|
|
NM_018368.4(LMBRD1):c.916-13T>C
|
|
|
|
NM_018368.4(LMBRD1):c.916-7C>T
|
|
|
|
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
|
|
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
|
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
|
|
|
|
NM_018368.4(LMBRD1):c.980+10G>A
|
|
|
|
NM_018368.4(LMBRD1):c.980+13G>A
|
|
|
|
NM_018368.4(LMBRD1):c.980+14A>G
|
|
|
|
NM_018368.4(LMBRD1):c.980+15C>T
|
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
|
NM_018368.4(LMBRD1):c.981-10T>A
|
|
|
|
NM_018368.4(LMBRD1):c.981-10T>C
|
|
|
|
NM_018368.4(LMBRD1):c.981-10dup
|
rs202207965
|
|
|
NM_018368.4(LMBRD1):c.981-17T>C
|
|
|
|
NM_018368.4(LMBRD1):c.981-3del
|
|
|
|
NM_018368.4(LMBRD1):c.981-4T>G
|
|
|
|
NM_018368.4(LMBRD1):c.981-4_981-3dup
|
|
|
|
NM_018368.4(LMBRD1):c.981-8T>A
|
|
|
|
NM_018368.4(LMBRD1):c.981-9T>A
|
rs2149844964
|
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
|
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
|
|
|
|
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
|
|
|
|
NM_018706.7(DHTKD1):c.100C>A (p.Arg34=)
|
rs1195184698
|
|
|
NM_018706.7(DHTKD1):c.1019G>T (p.Gly340Val)
|
|
|
|
NM_018706.7(DHTKD1):c.1037T>C (p.Phe346Ser)
|
rs2131360674
|
|
|
NM_018706.7(DHTKD1):c.1055C>G (p.Pro352Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1067T>C (p.Ile356Thr)
|
rs1250819676
|
|
|
NM_018706.7(DHTKD1):c.1081C>T (p.His361Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.1084T>C (p.Leu362=)
|
|
|
|
NM_018706.7(DHTKD1):c.1097A>G (p.Asn366Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1099C>G (p.Gln367Glu)
|
|
|
|
NM_018706.7(DHTKD1):c.1110C>T (p.Tyr370=)
|
|
|
|
NM_018706.7(DHTKD1):c.113C>G (p.Pro38Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1141T>C (p.Leu381=)
|
|
|
|
NM_018706.7(DHTKD1):c.114C>T (p.Pro38=)
|
|
|
|
NM_018706.7(DHTKD1):c.1150A>G (p.Ser384Gly)
|
|
|
|
NM_018706.7(DHTKD1):c.1150A>T (p.Ser384Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.1159+19A>G
|
|
|
|
NM_018706.7(DHTKD1):c.1159+1G>A
|
|
|
|
NM_018706.7(DHTKD1):c.1159+5G>A
|
|
|
|
NM_018706.7(DHTKD1):c.1160-13T>G
|
rs2131362514
|
|
|
NM_018706.7(DHTKD1):c.1160-17G>A
|
|
|
|
NM_018706.7(DHTKD1):c.1160-18T>C
|
|
|
|
NM_018706.7(DHTKD1):c.1160-1G>C
|
|
|
|
NM_018706.7(DHTKD1):c.1161G>A (p.Gly387=)
|
|
|
|
NM_018706.7(DHTKD1):c.116A>G (p.Glu39Gly)
|
|
|
|
NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val)
|
rs776977187
|
|
|
NM_018706.7(DHTKD1):c.1186C>T (p.His396Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.1191C>G (p.Val397=)
|
rs758294466
|
|
|
NM_018706.7(DHTKD1):c.1193A>G (p.Asn398Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1219C>T (p.Arg407Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.1223C>T (p.Ala408Val)
|
rs1564392988
|
|
|
NM_018706.7(DHTKD1):c.1225A>T (p.Thr409Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1233G>A (p.Leu411=)
|
|
|
|
NM_018706.7(DHTKD1):c.1245C>T (p.Tyr415=)
|
|
|
|
NM_018706.7(DHTKD1):c.1249C>T (p.Arg417Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.124G>A (p.Glu42Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.1250G>A (p.Arg417His)
|
|
|
|
NM_018706.7(DHTKD1):c.1259G>A (p.Arg420His)
|
rs200039178
|
|
|
NM_018706.7(DHTKD1):c.1264G>A (p.Asp422Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.1266T>A (p.Asp422Glu)
|
rs1833034016
|
|
|
NM_018706.7(DHTKD1):c.1267G>A (p.Val423Met)
|
rs761350668
|
|
|
NM_018706.7(DHTKD1):c.127C>A (p.Pro43Thr)
|
rs2131342394
|
|
|
NM_018706.7(DHTKD1):c.1305C>T (p.His435=)
|
|
|
|
NM_018706.7(DHTKD1):c.1339A>G (p.Ile447Val)
|
|
|
|
NM_018706.7(DHTKD1):c.1358+16C>T
|
|
|
|
NM_018706.7(DHTKD1):c.1382C>A (p.Thr461Lys)
|
rs201559023
|
|
|
NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)
|
rs201559023
|
|
|
NM_018706.7(DHTKD1):c.1384T>C (p.Tyr462His)
|
|
|
|
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.1394A>T (p.His465Leu)
|
rs2131365248
|
|
|
NM_018706.7(DHTKD1):c.1399A>G (p.Ile467Val)
|
|
|
|
NM_018706.7(DHTKD1):c.1402G>A (p.Ala468Thr)
|
rs756190281
|
|
|
NM_018706.7(DHTKD1):c.1407C>T (p.Gly469=)
|
rs80324702
|
|
|
NM_018706.7(DHTKD1):c.1409del (p.Gly470fs)
|
rs1281526839
|
|
|
NM_018706.7(DHTKD1):c.1418C>T (p.Thr473Met)
|
|
|
|
NM_018706.7(DHTKD1):c.1428G>A (p.Glu476=)
|
|
|
|
NM_018706.7(DHTKD1):c.1432T>A (p.Ser478Thr)
|
rs2131365279
|
|
|
NM_018706.7(DHTKD1):c.1450T>C (p.Tyr484His)
|
rs922732733
|
|
|
NM_018706.7(DHTKD1):c.1452C>G (p.Tyr484Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.1454A>G (p.Tyr485Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.1458C>T (p.Ala486=)
|
|
|
|
NM_018706.7(DHTKD1):c.1461G>A (p.Lys487=)
|
|
|
|
NM_018706.7(DHTKD1):c.1479T>C (p.Asn493=)
|
|
|
|
NM_018706.7(DHTKD1):c.1496G>A (p.Arg499Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.1497G>T (p.Arg499Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1498C>G (p.Pro500Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.1505C>T (p.Ala502Val)
|
|
|
|
NM_018706.7(DHTKD1):c.1508T>C (p.Leu503Pro)
|
rs1833095845
|
|
|
NM_018706.7(DHTKD1):c.1512C>A (p.Asn504Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.151C>G (p.Pro51Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.152C>A (p.Pro51Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.1531G>C (p.Gly511Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1537G>C (p.Ala513Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.153A>T (p.Pro51=)
|
|
|
|
NM_018706.7(DHTKD1):c.154+15C>T
|
|
|
|
NM_018706.7(DHTKD1):c.154+18G>A
|
|
|
|
NM_018706.7(DHTKD1):c.154+6G>T
|
|
|
|
NM_018706.7(DHTKD1):c.154+8A>G
|
|
|
|
NM_018706.7(DHTKD1):c.1542G>T (p.Gln514His)
|
|
|
|
NM_018706.7(DHTKD1):c.1544del (p.Pro515fs)
|
|
|
|
NM_018706.7(DHTKD1):c.154G>A (p.Val52Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.155-11C>T
|
|
|
|
NM_018706.7(DHTKD1):c.1553A>C (p.Gln518Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.155T>C (p.Val52Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.1562C>G (p.Thr521Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1565G>A (p.Trp522Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.156T>C (p.Val52=)
|
rs1160225038
|
|
|
NM_018706.7(DHTKD1):c.1580C>T (p.Pro527Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.1585G>A (p.Asp529Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.1587C>T (p.Asp529=)
|
|
|
|
NM_018706.7(DHTKD1):c.1596G>A (p.Arg532=)
|
rs2131365440
|
|
|
NM_018706.7(DHTKD1):c.1604G>A (p.Gly535Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.160C>T (p.His54Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.1617A>G (p.Val539=)
|
|
|
|
NM_018706.7(DHTKD1):c.1624C>T (p.Pro542Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1630G>C (p.Glu544Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.1638G>C (p.Gln546His)
|
|
|
|
NM_018706.7(DHTKD1):c.163G>A (p.Gly55Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.1645A>G (p.Ser549Gly)
|
|
|
|
NM_018706.7(DHTKD1):c.1647T>A (p.Ser549Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1656G>A (p.Leu552=)
|
rs2131365510
|
|
|
NM_018706.7(DHTKD1):c.1662A>G (p.Thr554=)
|
|
|
|
NM_018706.7(DHTKD1):c.1664A>C (p.His555Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.1664A>G (p.His555Arg)
|
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NM_018706.7(DHTKD1):c.1669C>T (p.Gln557Ter)
|
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|
NM_018706.7(DHTKD1):c.1671+14A>G
|
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NM_018706.7(DHTKD1):c.1671+3G>T
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NM_018706.7(DHTKD1):c.1671+9C>G
|
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NM_018706.7(DHTKD1):c.1672-20T>A
|
rs1275272258
|
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NM_018706.7(DHTKD1):c.1672-20T>C
|
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NM_018706.7(DHTKD1):c.1685A>G (p.Lys562Arg)
|
rs2131367049
|
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NM_018706.7(DHTKD1):c.1696G>A (p.Gly566Arg)
|
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NM_018706.7(DHTKD1):c.1705C>G (p.Leu569Val)
|
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|
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NM_018706.7(DHTKD1):c.1705C>T (p.Leu569=)
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NM_018706.7(DHTKD1):c.1709A>G (p.Asp570Gly)
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NM_018706.7(DHTKD1):c.1709A>T (p.Asp570Val)
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NM_018706.7(DHTKD1):c.1710C>A (p.Asp570Glu)
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NM_018706.7(DHTKD1):c.1711T>C (p.Trp571Arg)
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NM_018706.7(DHTKD1):c.1719C>T (p.Thr573=)
|
rs376488113
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NM_018706.7(DHTKD1):c.1722G>A (p.Ala574=)
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NM_018706.7(DHTKD1):c.1722G>C (p.Ala574=)
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NM_018706.7(DHTKD1):c.1725A>G (p.Glu575=)
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NM_018706.7(DHTKD1):c.1728T>G (p.Ala576=)
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NM_018706.7(DHTKD1):c.1744T>G (p.Leu582Val)
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NM_018706.7(DHTKD1):c.1753C>G (p.Gln585Glu)
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NM_018706.7(DHTKD1):c.1756+10T>G
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NM_018706.7(DHTKD1):c.1756+12C>A
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NM_018706.7(DHTKD1):c.1756+12C>G
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NM_018706.7(DHTKD1):c.1756+12C>T
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NM_018706.7(DHTKD1):c.1756+12del
|
rs371403192
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NM_018706.7(DHTKD1):c.1756+13T>G
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NM_018706.7(DHTKD1):c.1756+13_1756+14insATTTTTTTTCTGT
|
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NM_018706.7(DHTKD1):c.1756+14_1756+15insGTTTTTTTGTGTTTTTTTTTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+18T>A
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NM_018706.7(DHTKD1):c.1756+18T>C
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NM_018706.7(DHTKD1):c.1756+1G>C
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NM_018706.7(DHTKD1):c.1756+20T>A
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NM_018706.7(DHTKD1):c.1756+20_1756+21insCTGTTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+21_1756+22insCTGTTTTTTTTT
|
rs1554792993
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NM_018706.7(DHTKD1):c.1756+21_1756+22insGGGTTTTTTTTTTTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+21_1756+22insGTGTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+22_1756+23insGGTGTTTTTTTTTTTTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTT
|
rs375494996
|
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NM_018706.7(DHTKD1):c.1756+22_1756+23insTCTGTTTTTTTTTTT
|
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NM_018706.7(DHTKD1):c.1756+22del
|
rs375494996
|
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NM_018706.7(DHTKD1):c.1756+22dup
|
rs375494996
|
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NM_018706.7(DHTKD1):c.1756+23_1756+34del
|
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NM_018706.7(DHTKD1):c.1756+23_1756+39del
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NM_018706.7(DHTKD1):c.1756+2T>C
|
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NM_018706.7(DHTKD1):c.1756+7A>T
|
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NM_018706.7(DHTKD1):c.1756+7_1756+8insATTTGTTTTTTTTTTTAGGTTTTTT
|
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NM_018706.7(DHTKD1):c.1757-14dup
|
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NM_018706.7(DHTKD1):c.1757-3A>T
|
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NM_018706.7(DHTKD1):c.1757-7G>A
|
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NM_018706.7(DHTKD1):c.1764T>C (p.Asn588=)
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NM_018706.7(DHTKD1):c.1769G>A (p.Arg590His)
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NM_018706.7(DHTKD1):c.1769G>T (p.Arg590Leu)
|
rs139836411
|
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NM_018706.7(DHTKD1):c.1790G>A (p.Gly597Asp)
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NM_018706.7(DHTKD1):c.1793G>A (p.Arg598His)
|
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NM_018706.7(DHTKD1):c.1806_1809del (p.Ser602fs)
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NM_018706.7(DHTKD1):c.1813C>T (p.His605Tyr)
|
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NM_018706.7(DHTKD1):c.1819A>G (p.Ile607Val)
|
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NM_018706.7(DHTKD1):c.1821C>G (p.Ile607Met)
|
rs2062988
|
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NM_018706.7(DHTKD1):c.1824G>C (p.Val608=)
|
rs2131616416
|
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NM_018706.7(DHTKD1):c.1826T>C (p.Val609Ala)
|
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NM_018706.7(DHTKD1):c.1843G>A (p.Asp615Asn)
|
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NM_018706.7(DHTKD1):c.1845C>T (p.Asp615=)
|
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NM_018706.7(DHTKD1):c.1846A>C (p.Thr616Pro)
|
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NM_018706.7(DHTKD1):c.1846A>G (p.Thr616Ala)
|
rs1186888662
|
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NM_018706.7(DHTKD1):c.1847C>T (p.Thr616Ile)
|
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|
|
NM_018706.7(DHTKD1):c.1864C>T (p.His622Tyr)
|
rs1462585733
|
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|
NM_018706.7(DHTKD1):c.1872C>T (p.Asp624=)
|
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|
NM_018706.7(DHTKD1):c.1879C>T (p.Gln627Ter)
|
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|
|
NM_018706.7(DHTKD1):c.1884G>A (p.Lys628=)
|
rs535103210
|
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NM_018706.7(DHTKD1):c.1886G>A (p.Gly629Glu)
|
rs933926558
|
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NM_018706.7(DHTKD1):c.188A>T (p.Tyr63Phe)
|
rs768895085
|
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|
NM_018706.7(DHTKD1):c.1893A>G (p.Leu631=)
|
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|
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NM_018706.7(DHTKD1):c.1896+14A>G
|
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NM_018706.7(DHTKD1):c.1896+16A>G
|
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NM_018706.7(DHTKD1):c.1896+19T>G
|
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|
NM_018706.7(DHTKD1):c.1897-6G>C
|
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NM_018706.7(DHTKD1):c.1899C>T (p.Val633=)
|
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|
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
|
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|
|
NM_018706.7(DHTKD1):c.190T>C (p.Cys64Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1910_1911delinsGC (p.Pro637Arg)
|
rs2131619564
|
|
|
NM_018706.7(DHTKD1):c.1911= (p.Pro637=)
|
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|
|
NM_018706.7(DHTKD1):c.1911_1912delinsCA (p.Leu638Met)
|
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|
|
NM_018706.7(DHTKD1):c.1913T>C (p.Leu638Pro)
|
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|
|
NM_018706.7(DHTKD1):c.1926C>G (p.Ala642=)
|
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|
|
NM_018706.7(DHTKD1):c.1926C>T (p.Ala642=)
|
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|
|
NM_018706.7(DHTKD1):c.1927G>A (p.Val643Ile)
|
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|
NM_018706.7(DHTKD1):c.1938= (p.Phe646=)
|
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NM_018706.7(DHTKD1):c.1938T>A (p.Phe646Leu)
|
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|
NM_018706.7(DHTKD1):c.1939G>A (p.Glu647Lys)
|
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NM_018706.7(DHTKD1):c.193G>C (p.Glu65Gln)
|
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NM_018706.7(DHTKD1):c.1950G>A (p.Met650Ile)
|
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|
NM_018706.7(DHTKD1):c.1952G>A (p.Ser651Asn)
|
rs1833246281
|
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|
NM_018706.7(DHTKD1):c.1955T>C (p.Ile652Thr)
|
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|
|
NM_018706.7(DHTKD1):c.1960A>T (p.Ser654Cys)
|
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|
|
NM_018706.7(DHTKD1):c.1961G>A (p.Ser654Asn)
|
rs748103025
|
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|
NM_018706.7(DHTKD1):c.1967del (p.Lys656fs)
|
|
|
|
NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=)
|
rs199541122
|
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|
NM_018706.7(DHTKD1):c.1987_1988delinsAG (p.Ala663Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.1995T>G (p.Phe665Leu)
|
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NM_018706.7(DHTKD1):c.1997G>A (p.Gly666Asp)
|
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|
|
NM_018706.7(DHTKD1):c.1999G>C (p.Asp667His)
|
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|
NM_018706.7(DHTKD1):c.199_203del (p.His66_Gly67insTer)
|
|
|
|
NM_018706.7(DHTKD1):c.2009A>G (p.Asn670Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.2012G>A (p.Gly671Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2014G>A (p.Ala672Thr)
|
rs2131619684
|
|
|
NM_018706.7(DHTKD1):c.2018A>G (p.Gln673Arg)
|
rs1833247558
|
|
|
NM_018706.7(DHTKD1):c.2022C>T (p.Ile674=)
|
rs1457060881
|
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|
NM_018706.7(DHTKD1):c.2023A>G (p.Ile675Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2032A>G (p.Thr678Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.2041T>A (p.Ser681Thr)
|
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|
NM_018706.7(DHTKD1):c.2047+13G>A
|
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NM_018706.7(DHTKD1):c.2047+18G>A
|
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NM_018706.7(DHTKD1):c.2047+9C>T
|
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|
NM_018706.7(DHTKD1):c.2048-15G>A
|
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|
NM_018706.7(DHTKD1):c.2048-18C>T
|
|
|
|
NM_018706.7(DHTKD1):c.2048-32_2048-10del
|
rs1368208385
|
|
|
NM_018706.7(DHTKD1):c.2048G>T (p.Gly683Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2061G>A (p.Trp687Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.2062C>T (p.Leu688Phe)
|
rs2131620901
|
|
|
NM_018706.7(DHTKD1):c.2064C>T (p.Leu688=)
|
|
|
|
NM_018706.7(DHTKD1):c.2079_2080delinsTT (p.Val694Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.2088C>T (p.Leu696=)
|
|
|
|
NM_018706.7(DHTKD1):c.2095C>G (p.His699Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2096A>G (p.His699Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.209C>A (p.Ala70Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2104G>A (p.Asp702Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.2106T>G (p.Asp702Glu)
|
rs759597069
|
|
|
NM_018706.7(DHTKD1):c.2110G>T (p.Ala704Ser)
|
rs1354505166
|
|
|
NM_018706.7(DHTKD1):c.2113G>A (p.Gly705Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2116C>T (p.Pro706Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.212C>T (p.Ala71Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2140G>C (p.Glu714Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.2154+12G>A
|
|
|
|
NM_018706.7(DHTKD1):c.2154+18C>T
|
|
|
|
NM_018706.7(DHTKD1):c.2154G>A (p.Gln718=)
|
|
|
|
NM_018706.7(DHTKD1):c.2155-14C>T
|
|
|
|
NM_018706.7(DHTKD1):c.2155-3C>T
|
rs2131624128
|
|
|
NM_018706.7(DHTKD1):c.2156T>G (p.Met719Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2166T>G (p.Ser722Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2168C>T (p.Ala723Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2175G>C (p.Glu725Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2175G>T (p.Glu725Asp)
|
rs775438065
|
|
|
NM_018706.7(DHTKD1):c.2178G>C (p.Gly726=)
|
|
|
|
NM_018706.7(DHTKD1):c.2194G>A (p.Val732Met)
|
|
|
|
NM_018706.7(DHTKD1):c.2229A>G (p.Ala743=)
|
|
|
|
NM_018706.7(DHTKD1):c.2233T>C (p.Tyr745His)
|
|
|
|
NM_018706.7(DHTKD1):c.2238C>T (p.Phe746=)
|
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|
|
NM_018706.7(DHTKD1):c.2242T>G (p.Leu748Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2252_2266del (p.Arg751_Arg755del)
|
rs1833358229
|
|
|
NM_018706.7(DHTKD1):c.2261T>A (p.Val754Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2263C>T (p.Arg755Trp)
|
|
|
|
NM_018706.7(DHTKD1):c.2264G>A (p.Arg755Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.2264G>C (p.Arg755Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2279C>G (p.Pro760Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.227T>C (p.Leu76Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2284A>G (p.Ile762Val)
|
rs2131624242
|
|
|
NM_018706.7(DHTKD1):c.2296C>G (p.Pro766Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.2319+11G>A
|
|
|
|
NM_018706.7(DHTKD1):c.2320-11C>T
|
|
|
|
NM_018706.7(DHTKD1):c.2320-12T>G
|
|
|
|
NM_018706.7(DHTKD1):c.2320-14C>G
|
|
|
|
NM_018706.7(DHTKD1):c.2320-9C>G
|
|
|
|
NM_018706.7(DHTKD1):c.232A>G (p.Thr78Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.2347del (p.Ala783fs)
|
|
|
|
NM_018706.7(DHTKD1):c.2351C>T (p.Pro784Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2356A>G (p.Thr786Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.2356ACA[1] (p.Thr787del)
|
rs563856629
|
|
|
NM_018706.7(DHTKD1):c.235G>A (p.Gly79Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2362T>C (p.Phe788Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2369C>T (p.Pro790Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2374A>T (p.Ile792Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.2378G>A (p.Gly793Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2382T>C (p.Asp794=)
|
|
|
|
NM_018706.7(DHTKD1):c.2392G>T (p.Asp798Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.239A>C (p.Gln80Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2401A>T (p.Lys801Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.2402+18_2402+19del
|
|
|
|
NM_018706.7(DHTKD1):c.2402+1G>A
|
|
|
|
NM_018706.7(DHTKD1):c.2402+9T>C
|
|
|
|
NM_018706.7(DHTKD1):c.2403-16del
|
|
|
|
NM_018706.7(DHTKD1):c.2403-18T>C
|
rs2131628932
|
|
|
NM_018706.7(DHTKD1):c.2403-3C>A
|
|
|
|
NM_018706.7(DHTKD1):c.2403G>A (p.Lys801=)
|
|
|
|
NM_018706.7(DHTKD1):c.2415C>T (p.Leu805=)
|
rs1460366028
|
|
|
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)
|
|
|
|
NM_018706.7(DHTKD1):c.241G>A (p.Ala81Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.2425T>C (p.Ser809Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2428G>A (p.Gly810Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.2430C>G (p.Gly810=)
|
|
|
|
NM_018706.7(DHTKD1):c.2432A>G (p.Lys811Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2441A>G (p.Tyr814Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.2445C>T (p.Ser815=)
|
rs1833467254
|
|
|
NM_018706.7(DHTKD1):c.2447T>C (p.Leu816Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)
|
rs1271803838
|
|
|
NM_018706.7(DHTKD1):c.2461_2462del (p.Glu821fs)
|
rs2131629002
|
|
|
NM_018706.7(DHTKD1):c.2469G>A (p.Leu823=)
|
|
|
|
NM_018706.7(DHTKD1):c.2470G>A (p.Gly824Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.2482C>T (p.His828Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.2494A>G (p.Ile832Val)
|
|
|
|
NM_018706.7(DHTKD1):c.2497A>G (p.Ile833Val)
|
rs972227565
|
|
|
NM_018706.7(DHTKD1):c.2518C>T (p.Pro840Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.2523C>A (p.Phe841Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2527T>C (p.Leu843=)
|
|
|
|
NM_018706.7(DHTKD1):c.252G>C (p.Glu84Asp)
|
|
|
|
NM_018706.7(DHTKD1):c.2549T>C (p.Met850Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.2566G>C (p.Val856Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2571A>G (p.Lys857=)
|
|
|
|
NM_018706.7(DHTKD1):c.2572+1G>A
|
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|
|
NM_018706.7(DHTKD1):c.2572+5G>A
|
rs1833469793
|
|
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NM_018706.7(DHTKD1):c.2572+9T>C
|
|
|
|
NM_018706.7(DHTKD1):c.2572G>A (p.Asp858Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.2573-12C>G
|
rs1399609087
|
|
|
NM_018706.7(DHTKD1):c.2573A>C (p.Asp858Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.2575C>A (p.His859Asn)
|
rs769419156
|
|
|
NM_018706.7(DHTKD1):c.2575C>T (p.His859Tyr)
|
|
|
|
NM_018706.7(DHTKD1):c.258G>A (p.Val86=)
|
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|
NM_018706.7(DHTKD1):c.258G>T (p.Val86=)
|
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|
|
NM_018706.7(DHTKD1):c.259C>T (p.Pro87Ser)
|
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|
|
NM_018706.7(DHTKD1):c.2604dup (p.Met869fs)
|
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|
|
NM_018706.7(DHTKD1):c.2613G>C (p.Pro871=)
|
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|
|
NM_018706.7(DHTKD1):c.2614T>C (p.Trp872Arg)
|
rs1021701691
|
|
|
NM_018706.7(DHTKD1):c.2619G>A (p.Ser873=)
|
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|
|
NM_018706.7(DHTKD1):c.2623G>A (p.Val875Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.2632A>G (p.Arg878Gly)
|
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|
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NM_018706.7(DHTKD1):c.2634G>A (p.Arg878=)
|
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NM_018706.7(DHTKD1):c.2649G>A (p.Leu883=)
|
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NM_018706.7(DHTKD1):c.2650G>C (p.Ala884Pro)
|
rs749888809
|
|
|
NM_018706.7(DHTKD1):c.2658+10C>T
|
rs1833504194
|
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NM_018706.7(DHTKD1):c.2658+11G>A
|
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NM_018706.7(DHTKD1):c.2658+1G>T
|
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NM_018706.7(DHTKD1):c.2658+7A>C
|
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NM_018706.7(DHTKD1):c.2659-11T>G
|
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NM_018706.7(DHTKD1):c.2659-18_2659-16del
|
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|
|
NM_018706.7(DHTKD1):c.2659-20C>A
|
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NM_018706.7(DHTKD1):c.2659-3_2659-2del
|
rs761529786
|
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|
NM_018706.7(DHTKD1):c.2662C>A (p.Arg888Ser)
|
rs143212640
|
|
|
NM_018706.7(DHTKD1):c.2662C>T (p.Arg888Cys)
|
rs143212640
|
|
|
NM_018706.7(DHTKD1):c.2663G>A (p.Arg888His)
|
rs757827550
|
|
|
NM_018706.7(DHTKD1):c.2668G>T (p.Val890Leu)
|
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|
|
NM_018706.7(DHTKD1):c.2675G>A (p.Arg892Gln)
|
rs574614585
|
|
|
NM_018706.7(DHTKD1):c.2675G>T (p.Arg892Leu)
|
rs574614585
|
|
|
NM_018706.7(DHTKD1):c.2684T>G (p.Leu895Trp)
|
rs2131631166
|
|
|
NM_018706.7(DHTKD1):c.2685G>C (p.Leu895Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.2686C>T (p.Pro896Ser)
|
rs1833515167
|
|
|
NM_018706.7(DHTKD1):c.2689G>A (p.Val897Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.2705T>C (p.Ile902Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.2713G>C (p.Val905Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.2717A>G (p.His906Arg)
|
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|
|
NM_018706.7(DHTKD1):c.2718C>A (p.His906Gln)
|
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|
|
NM_018706.7(DHTKD1):c.2727G>A (p.Gln909=)
|
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|
|
NM_018706.7(DHTKD1):c.2727G>T (p.Gln909His)
|
|
|
|
NM_018706.7(DHTKD1):c.272C>T (p.Ala91Val)
|
rs1131691629
|
|
|
NM_018706.7(DHTKD1):c.2743G>A (p.Ala915Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.2743G>C (p.Ala915Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.2750C>G (p.Thr917Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.2751C>G (p.Thr917=)
|
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|
|
NM_018706.7(DHTKD1):c.279G>A (p.Val93=)
|
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|
|
NM_018706.7(DHTKD1):c.287T>C (p.Leu96Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.289C>A (p.Gln97Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.2T>G (p.Met1Arg)
|
rs760903542
|
|
|
NM_018706.7(DHTKD1):c.310+10C>T
|
|
|
|
NM_018706.7(DHTKD1):c.310+12G>A
|
|
|
|
NM_018706.7(DHTKD1):c.310+16A>C
|
rs1424663132
|
|
|
NM_018706.7(DHTKD1):c.310+2T>C
|
|
|
|
NM_018706.7(DHTKD1):c.315A>G (p.Leu105=)
|
rs1313880752
|
|
|
NM_018706.7(DHTKD1):c.326G>A (p.Gly109Glu)
|
|
|
|
NM_018706.7(DHTKD1):c.329A>G (p.Lys110Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.331del (p.Glu111fs)
|
|
|
|
NM_018706.7(DHTKD1):c.36C>A (p.Gly12=)
|
rs972872618
|
|
|
NM_018706.7(DHTKD1):c.377A>G (p.Tyr126Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.395T>C (p.Ile132Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.401C>T (p.Thr134Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.40G>C (p.Gly14Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.40G>T (p.Gly14Cys)
|
|
|
|
NM_018706.7(DHTKD1):c.41G>C (p.Gly14Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.423T>A (p.Asp141Glu)
|
|
|
|
NM_018706.7(DHTKD1):c.443A>G (p.Lys148Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.445C>T (p.Arg149Trp)
|
rs141125831
|
|
|
NM_018706.7(DHTKD1):c.447G>A (p.Arg149=)
|
|
|
|
NM_018706.7(DHTKD1):c.447G>T (p.Arg149=)
|
|
|
|
NM_018706.7(DHTKD1):c.451G>A (p.Glu151Lys)
|
|
|
|
NM_018706.7(DHTKD1):c.458T>G (p.Leu153Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.465G>T (p.Lys155Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.46G>A (p.Ala16Thr)
|
|
|
|
NM_018706.7(DHTKD1):c.471G>A (p.Thr157=)
|
|
|
|
NM_018706.7(DHTKD1):c.486G>A (p.Glu162=)
|
|
|
|
NM_018706.7(DHTKD1):c.487C>T (p.Arg163Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.489A>C (p.Arg163=)
|
|
|
|
NM_018706.7(DHTKD1):c.497T>C (p.Leu166Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.49C>T (p.Leu17Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.501G>A (p.Ser167=)
|
|
|
|
NM_018706.7(DHTKD1):c.509T>G (p.Met170Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.522+12C>A
|
|
|
|
NM_018706.7(DHTKD1):c.522+12C>T
|
|
|
|
NM_018706.7(DHTKD1):c.522+19G>C
|
|
|
|
NM_018706.7(DHTKD1):c.522+8G>A
|
|
|
|
NM_018706.7(DHTKD1):c.522+9G>T
|
|
|
|
NM_018706.7(DHTKD1):c.523-14A>T
|
|
|
|
NM_018706.7(DHTKD1):c.523-3C>T
|
|
|
|
NM_018706.7(DHTKD1):c.523-8T>G
|
|
|
|
NM_018706.7(DHTKD1):c.523G>C (p.Glu175Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.52C>T (p.Pro18Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.531C>T (p.Asp177=)
|
|
|
|
NM_018706.7(DHTKD1):c.543C>A (p.Ala181=)
|
rs774720865
|
|
|
NM_018706.7(DHTKD1):c.543C>T (p.Ala181=)
|
rs774720865
|
|
|
NM_018706.7(DHTKD1):c.554C>T (p.Ser185Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.559G>C (p.Val187Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.569A>T (p.Tyr190Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.58= (p.Phe20=)
|
|
|
|
NM_018706.7(DHTKD1):c.606C>T (p.Phe202=)
|
|
|
|
NM_018706.7(DHTKD1):c.608A>G (p.His203Arg)
|
rs2131357346
|
|
|
NM_018706.7(DHTKD1):c.613C>G (p.Leu205Val)
|
|
|
|
NM_018706.7(DHTKD1):c.624G>A (p.Met208Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.635G>A (p.Ser212Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.637G>A (p.Gly213Arg)
|
|
|
|
NM_018706.7(DHTKD1):c.649G>A (p.Val217Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.649G>T (p.Val217Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.669del (p.His223fs)
|
|
|
|
NM_018706.7(DHTKD1):c.684T>C (p.Asn228=)
|
rs1564391006
|
|
|
NM_018706.7(DHTKD1):c.691A>G (p.Thr231Ala)
|
|
|
|
NM_018706.7(DHTKD1):c.698T>A (p.Leu233His)
|
|
|
|
NM_018706.7(DHTKD1):c.700C>A (p.Leu234Met)
|
rs140003684
|
|
|
NM_018706.7(DHTKD1):c.700_701delinsGG (p.Leu234Gly)
|
rs2131357438
|
|
|
NM_018706.7(DHTKD1):c.703C>T (p.Gln235Ter)
|
|
|
|
NM_018706.7(DHTKD1):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.714A>G (p.Pro238=)
|
|
|
|
NM_018706.7(DHTKD1):c.717+13G>T
|
|
|
|
NM_018706.7(DHTKD1):c.717+16G>T
|
|
|
|
NM_018706.7(DHTKD1):c.718-15A>G
|
|
|
|
NM_018706.7(DHTKD1):c.718-4A>G
|
|
|
|
NM_018706.7(DHTKD1):c.718-7A>G
|
|
|
|
NM_018706.7(DHTKD1):c.721A>G (p.Met241Val)
|
|
|
|
NM_018706.7(DHTKD1):c.728G>A (p.Arg243His)
|
|
|
|
NM_018706.7(DHTKD1):c.728G>T (p.Arg243Leu)
|
rs781779430
|
|
|
NM_018706.7(DHTKD1):c.736C>T (p.Arg246Ter)
|
rs780313786
|
|
|
NM_018706.7(DHTKD1):c.737G>A (p.Arg246Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.737G>C (p.Arg246Pro)
|
|
|
|
NM_018706.7(DHTKD1):c.748del (p.Glu250fs)
|
rs1564391327
|
|
|
NM_018706.7(DHTKD1):c.761A>G (p.Asn254Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.765C>T (p.Phe255=)
|
|
|
|
NM_018706.7(DHTKD1):c.773C>G (p.Thr258Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.781G>A (p.Val261Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.792C>T (p.His264=)
|
|
|
|
NM_018706.7(DHTKD1):c.79_128del (p.Glu27fs)
|
|
|
|
NM_018706.7(DHTKD1):c.800C>A (p.Ser267Tyr)
|
rs764869852
|
|
|
NM_018706.7(DHTKD1):c.817T>C (p.Phe273Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.818T>C (p.Phe273Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.819T>C (p.Phe273=)
|
|
|
|
NM_018706.7(DHTKD1):c.823G>T (p.Ala275Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.825G>A (p.Ala275=)
|
|
|
|
NM_018706.7(DHTKD1):c.831T>G (p.His277Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.837C>G (p.Leu279=)
|
|
|
|
NM_018706.7(DHTKD1):c.841G>A (p.Val281Met)
|
|
|
|
NM_018706.7(DHTKD1):c.846A>C (p.Thr282=)
|
|
|
|
NM_018706.7(DHTKD1):c.846A>G (p.Thr282=)
|
|
|
|
NM_018706.7(DHTKD1):c.847A>T (p.Met283Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.851T>C (p.Leu284Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.857A>G (p.Asn286Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.867C>T (p.His289=)
|
|
|
|
NM_018706.7(DHTKD1):c.868C>T (p.Leu290=)
|
|
|
|
NM_018706.7(DHTKD1):c.877G>A (p.Val293Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.879C>G (p.Val293=)
|
|
|
|
NM_018706.7(DHTKD1):c.885C>T (p.Pro295=)
|
|
|
|
NM_018706.7(DHTKD1):c.890C>T (p.Ala297Val)
|
rs1832949989
|
|
|
NM_018706.7(DHTKD1):c.891C>G (p.Ala297=)
|
rs576048100
|
|
|
NM_018706.7(DHTKD1):c.891C>T (p.Ala297=)
|
|
|
|
NM_018706.7(DHTKD1):c.892G>A (p.Val298Met)
|
|
|
|
NM_018706.7(DHTKD1):c.905G>A (p.Arg302His)
|
|
|
|
NM_018706.7(DHTKD1):c.907G>A (p.Gly303Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.908G>T (p.Gly303Val)
|
|
|
|
NM_018706.7(DHTKD1):c.909C>T (p.Gly303=)
|
|
|
|
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
|
|
|
|
NM_018706.7(DHTKD1):c.933C>T (p.Gly311=)
|
|
|
|
NM_018706.7(DHTKD1):c.934G>A (p.Asp312Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.941C>T (p.Ser314Phe)
|
|
|
|
NM_018706.7(DHTKD1):c.944C>T (p.Pro315Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.94G>A (p.Gly32Ser)
|
|
|
|
NM_018706.7(DHTKD1):c.953C>T (p.Ser318Leu)
|
|
|
|
NM_018706.7(DHTKD1):c.962C>A (p.Pro321Gln)
|
|
|
|
NM_018706.7(DHTKD1):c.963G>A (p.Pro321=)
|
rs377143488
|
|
|
NM_018706.7(DHTKD1):c.963G>C (p.Pro321=)
|
|
|
|
NM_018706.7(DHTKD1):c.963G>T (p.Pro321=)
|
|
|
|
NM_018706.7(DHTKD1):c.967G>A (p.Asp323Asn)
|
|
|
|
NM_018706.7(DHTKD1):c.967dup (p.Asp323fs)
|
|
|
|
NM_018706.7(DHTKD1):c.970A>G (p.Arg324Gly)
|
|
|
|
NM_018706.7(DHTKD1):c.973G>A (p.Val325Ile)
|
|
|
|
NM_018706.7(DHTKD1):c.981C>G (p.Cys327Trp)
|
|
|
|
NM_018706.7(DHTKD1):c.984A>G (p.Leu328=)
|
|
|
|
NM_018706.7(DHTKD1):c.987+4C>T
|
|
|
|
NM_018706.7(DHTKD1):c.987G>C (p.Gln329His)
|
|
|
|
NM_018706.7(DHTKD1):c.992A>G (p.His331Arg)
|
|
|
|
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
|
|
|
|
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
|
|
|
|
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
|
rs1714478055
|
|
|
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
|
|
|
|
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
|
rs1714474829
|
|
|
NM_020166.5(MCCC1):c.1068G>A (p.Val356=)
|
rs1175377728
|
|
|
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=)
|
rs773029355
|
|
|
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)
|
rs398124350
|
|
|
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=)
|
rs2108486547
|
|
|
NM_020166.5(MCCC1):c.1083+15dup
|
rs377092260
|
|
|
NM_020166.5(MCCC1):c.1083+16C>G
|
|
|
|
NM_020166.5(MCCC1):c.1083+9A>T
|
rs376902416
|
|
|
NM_020166.5(MCCC1):c.1084-1G>C
|
rs2108479565
|
|
|
NM_020166.5(MCCC1):c.1084-6T>C
|
|
|
|
NM_020166.5(MCCC1):c.1084-8A>G
|
|
|
|
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
|
|
|
|
NM_020166.5(MCCC1):c.108A>G (p.Gln36=)
|
rs1577367769
|
|
|
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
|
rs777891780
|
|
|
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
|
rs755328329
|
|
|
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=)
|
rs752061963
|
|
|
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val)
|
rs2108479414
|
|
|
NM_020166.5(MCCC1):c.1126del (p.Thr376fs)
|
|
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
|
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter)
|
rs2108479383
|
|
|
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
|
|
|
|
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup)
|
rs2108479359
|
|
|
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
|
rs1714100545
|
|
|
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
|
|
|
|
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
|
|
|
|
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly)
|
rs1553854969
|
|
|
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=)
|
rs1285687401
|
|
|
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)
|
rs796051985
|
|
|
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)
|
rs2108479136
|
|
|
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1209G>C (p.Val403=)
|
rs1016870729
|
|
|
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
|
rs1577276144
|
|
|
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
|
|
|
|
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
|
|
|
|
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
|
rs1714092180
|
|
|
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
|
rs1577276072
|
|
|
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly)
|
rs1484347924
|
|
|
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=)
|
rs1714087455
|
|
|
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)
|
rs2108569910
|
|
|
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
|
|
|
|
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
|
|
|
|
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs)
|
rs1560224024
|
|
|
NM_020166.5(MCCC1):c.1260A>G (p.Val420=)
|
rs2108478875
|
|
|
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)
|
rs762463137
|
|
|
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter)
|
rs2108478837
|
|
|
NM_020166.5(MCCC1):c.1267+15A>G
|
|
|
|
NM_020166.5(MCCC1):c.1267+9A>G
|
rs2108478831
|
|
|
NM_020166.5(MCCC1):c.1268-18C>T
|
|
|
|
NM_020166.5(MCCC1):c.1268-18del
|
|
|
|
NM_020166.5(MCCC1):c.1268-19C>A
|
|
|
|
NM_020166.5(MCCC1):c.1268-19C>T
|
|
|
|
NM_020166.5(MCCC1):c.1268-20A>C
|
|
|
|
NM_020166.5(MCCC1):c.1268-2A>G
|
rs2108474093
|
|
|
NM_020166.5(MCCC1):c.1268-6T>C
|
|
|
|
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
|
rs1713861760
|
|
|
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
|
|
|
|
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp)
|
rs2108474014
|
|
|
NM_020166.5(MCCC1):c.12C>T (p.Ala4=)
|
|
|
|
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
|
rs1232970567
|
|
|
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
|
rs759359909
|
|
|
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe)
|
rs1553868919
|
|
|
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro)
|
rs119103215
|
|
|
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)
|
rs398124352
|
|
|
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
|
rs1713855580
|
|
|
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
|
|
|
|
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
|
|
|
|
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter)
|
rs1453886049
|
|
|
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr)
|
rs546480708
|
|
|
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser)
|
rs546480708
|
|
|
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=)
|
rs1345111200
|
|
|
NM_020166.5(MCCC1):c.136+18T>A
|
|
|
|
NM_020166.5(MCCC1):c.136+18T>G
|
|
|
|
NM_020166.5(MCCC1):c.136+8C>G
|
|
|
|
NM_020166.5(MCCC1):c.136+9A>G
|
|
|
|
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
|
|
|
|
NM_020166.5(MCCC1):c.137-10T>G
|
rs1560281403
|
|
|
NM_020166.5(MCCC1):c.137-15T>C
|
|
|
|
NM_020166.5(MCCC1):c.137-18dup
|
|
|
|
NM_020166.5(MCCC1):c.137-7T>A
|
|
|
|
NM_020166.5(MCCC1):c.1377+16C>A
|
|
|
|
NM_020166.5(MCCC1):c.1377+6T>G
|
rs1369902442
|
|
|
NM_020166.5(MCCC1):c.1378-17G>C
|
|
|
|
NM_020166.5(MCCC1):c.1378-17del
|
|
|
|
NM_020166.5(MCCC1):c.1378-1G>T
|
rs2108470990
|
|
|
NM_020166.5(MCCC1):c.1378-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val)
|
rs2108470950
|
|
|
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
|
rs2108566202
|
|
|
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
|
|
|
|
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
|
|
|
|
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
|
|
|
|
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
|
|
|
|
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
|
|
|
|
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
|
rs2108470855
|
|
|
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=)
|
rs1560219940
|
|
|
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val)
|
rs565662458
|
|
|
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
|
rs565662458
|
|
|
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
|
|
|
|
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn)
|
rs1560219885
|
|
|
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
|
|
|
|
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
|
rs1290771044
|
|
|
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
|
rs200216718
|
|
|
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
|
|
|
|
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
|
rs1351299439
|
|
|
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
|
|
|
|
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
|
|
|
|
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
|
|
|
|
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
|
|
|
|
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
|
|
|
|
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
|
|
|
|
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
|
|
|
|
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
|
|
|
|
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=)
|
rs2108470530
|
|
|
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
|
|
|
|
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
|
|
|
|
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
|
rs1713693597
|
|
|
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=)
|
rs1713694212
|
|
|
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
|
|
|
|
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
|
rs563586657
|
|
|
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
|
rs398124353
|
|
|
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
|
rs200031275
|
|
|
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
|
|
|
|
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
|
|
|
|
NM_020166.5(MCCC1):c.1594+10G>T
|
|
|
|
NM_020166.5(MCCC1):c.1594+12T>A
|
|
|
|
NM_020166.5(MCCC1):c.1594+12T>C
|
|
|
|
NM_020166.5(MCCC1):c.1594+1G>A
|
rs966900131
|
|
|
NM_020166.5(MCCC1):c.1594+3A>G
|
|
|
|
NM_020166.5(MCCC1):c.1594+9G>A
|
|
|
|
NM_020166.5(MCCC1):c.1595-1G>C
|
rs1337201010
|
|
|
NM_020166.5(MCCC1):c.1595-2A>G
|
rs1235781420
|
|
|
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
|
rs34749281
|
|
|
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
|
|
|
|
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
|
|
|
|
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
|
|
|
|
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
|
|
|
|
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter)
|
rs2108461735
|
|
|
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
|
|
|
|
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys)
|
rs774055789
|
|
|
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
|
|
|
|
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)
|
rs1394547323
|
|
|
NM_020166.5(MCCC1):c.1681+10G>A
|
|
|
|
NM_020166.5(MCCC1):c.1681+13T>C
|
|
|
|
NM_020166.5(MCCC1):c.1681+2dup
|
|
|
|
NM_020166.5(MCCC1):c.1681+7A>G
|
|
|
|
NM_020166.5(MCCC1):c.1681+9T>C
|
rs2108461619
|
|
|
NM_020166.5(MCCC1):c.1682-12T>C
|
|
|
|
NM_020166.5(MCCC1):c.1682-16C>T
|
|
|
|
NM_020166.5(MCCC1):c.1682-17dup
|
|
|
|
NM_020166.5(MCCC1):c.1682-6A>C
|
|
|
|
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=)
|
rs1577245424
|
|
|
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
|
|
|
|
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
|
|
|
|
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs)
|
rs1311374961
|
|
|
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
|
|
|
|
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)
|
rs747015041
|
|
|
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
|
|
|
|
NM_020166.5(MCCC1):c.1731+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.1731+1del
|
|
|
|
NM_020166.5(MCCC1):c.1731+7C>T
|
|
|
|
NM_020166.5(MCCC1):c.1732-13del
|
rs770181345
|
|
|
NM_020166.5(MCCC1):c.1732-1G>T
|
rs763877330
|
|
|
NM_020166.5(MCCC1):c.1732-4dup
|
|
|
|
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
|
|
|
|
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
|
rs2108441668
|
|
|
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
|
rs2108441635
|
|
|
NM_020166.5(MCCC1):c.176A>G (p.Glu59Gly)
|
|
|
|
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
|
|
|
|
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
|
|
|
|
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
|
|
|
|
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
|
|
|
|
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer)
|
rs2108441513
|
|
|
NM_020166.5(MCCC1):c.17C>T (p.Ala6Val)
|
|
|
|
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=)
|
rs2108441478
|
|
|
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe)
|
rs1352360605
|
|
|
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs)
|
rs1553850609
|
|
|
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=)
|
rs747354023
|
|
|
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
|
|
|
|
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=)
|
rs2108441402
|
|
|
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln)
|
rs2108441391
|
|
|
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
|
|
|
|
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs)
|
rs2108441358
|
|
|
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
|
rs1712230544
|
|
|
NM_020166.5(MCCC1):c.1869+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.1869+7T>A
|
rs2108441301
|
|
|
NM_020166.5(MCCC1):c.1869+9T>C
|
|
|
|
NM_020166.5(MCCC1):c.1870-18T>C
|
|
|
|
NM_020166.5(MCCC1):c.1870-18_1870-16dup
|
|
|
|
NM_020166.5(MCCC1):c.1870-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
|
|
|
|
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)
|
rs2108565998
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
|
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter)
|
rs1311139055
|
|
|
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
|
|
|
|
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
|
|
|
|
NM_020166.5(MCCC1):c.1937del (p.Gln646fs)
|
rs1712031289
|
|
|
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
|
|
|
|
NM_020166.5(MCCC1):c.1973_1977+28del
|
rs776641008
|
|
|
NM_020166.5(MCCC1):c.1977+13C>T
|
|
|
|
NM_020166.5(MCCC1):c.1977+4dup
|
rs1488259395
|
|
|
NM_020166.5(MCCC1):c.1977+7A>G
|
rs2108437702
|
|
|
NM_020166.5(MCCC1):c.1977+9A>G
|
rs1712027129
|
|
|
NM_020166.5(MCCC1):c.1977+9A>T
|
|
|
|
NM_020166.5(MCCC1):c.1978-8del
|
rs747001867
|
|
|
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
|
|
|
|
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
|
|
|
|
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
|
|
|
|
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile)
|
rs2108565928
|
|
|
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
|
|
|
|
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
|
|
|
|
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
|
rs1354787415
|
|
|
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg)
|
rs1553849443
|
|
|
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
|
|
|
|
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
|
|
|
|
NM_020166.5(MCCC1):c.2049+15A>C
|
|
|
|
NM_020166.5(MCCC1):c.2049+9A>G
|
rs1711715793
|
|
|
NM_020166.5(MCCC1):c.2050-15C>T
|
|
|
|
NM_020166.5(MCCC1):c.2050-19C>T
|
|
|
|
NM_020166.5(MCCC1):c.2050-2A>G
|
rs2108428908
|
|
|
NM_020166.5(MCCC1):c.2050-6_2050-5del
|
rs780558586
|
|
|
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg)
|
rs1553848994
|
|
|
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
|
rs751755306
|
|
|
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
|
rs1203426656
|
|
|
NM_020166.5(MCCC1):c.207A>G (p.Lys69=)
|
rs1718434052
|
|
|
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
|
rs746267545
|
|
|
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
|
|
|
|
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
|
|
|
|
NM_020166.5(MCCC1):c.2115del (p.Asn706fs)
|
rs2108428693
|
|
|
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
|
rs1404350628
|
|
|
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala)
|
rs761521333
|
|
|
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
|
|
|
|
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
|
|
|
|
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=)
|
rs781286566
|
|
|
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
|
rs1280526570
|
|
|
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
|
|
|
|
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
|
|
|
|
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs)
|
rs2108565864
|
|
|
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
|
rs1718431677
|
|
|
NM_020166.5(MCCC1):c.231G>A (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.231G>T (p.Ala77=)
|
rs144230304
|
|
|
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
|
rs1577363370
|
|
|
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
|
rs1485157465
|
|
|
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
|
|
|
|
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
|
rs2108565751
|
|
|
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
|
|
|
|
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
|
|
|
|
NM_020166.5(MCCC1):c.264T>C (p.His88=)
|
|
|
|
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
|
rs1333663197
|
|
|
NM_020166.5(MCCC1):c.272del (p.Met91fs)
|
|
|
|
NM_020166.5(MCCC1):c.273+1G>C
|
|
|
|
NM_020166.5(MCCC1):c.273+4T>C
|
rs949646980
|
|
|
NM_020166.5(MCCC1):c.274-18G>A
|
|
|
|
NM_020166.5(MCCC1):c.274-20A>G
|
|
|
|
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
|
rs1717925328
|
|
|
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
|
|
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
|
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
|
rs375244642
|
|
|
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
|
|
|
|
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
|
rs776254500
|
|
|
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
|
|
|
|
NM_020166.5(MCCC1):c.300C>G (p.Pro100=)
|
rs747409426
|
|
|
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
|
|
|
|
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter)
|
rs1177891822
|
|
|
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
|
rs144872258
|
|
|
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
|
rs1717919066
|
|
|
NM_020166.5(MCCC1):c.336A>G (p.Lys112=)
|
rs1204945524
|
|
|
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
|
|
|
|
NM_020166.5(MCCC1):c.342T>C (p.Ile114=)
|
rs2108553502
|
|
|
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
|
rs754963220
|
|
|
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe)
|
rs1307589698
|
|
|
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
|
|
|
|
NM_020166.5(MCCC1):c.369+12G>A
|
|
|
|
NM_020166.5(MCCC1):c.369+14A>G
|
|
|
|
NM_020166.5(MCCC1):c.369+2T>C
|
|
|
|
NM_020166.5(MCCC1):c.370-4C>A
|
|
|
|
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
|
|
|
|
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)
|
rs761110034
|
|
|
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val)
|
rs2108528600
|
|
|
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
|
|
|
|
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly)
|
rs2108528559
|
|
|
NM_020166.5(MCCC1):c.411A>G (p.Glu137=)
|
rs2108528534
|
|
|
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr)
|
rs1436217339
|
|
|
NM_020166.5(MCCC1):c.423T>G (p.Leu141=)
|
rs2108528517
|
|
|
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs)
|
rs1716766263
|
|
|
NM_020166.5(MCCC1):c.435del (p.Gly146fs)
|
rs1486240538
|
|
|
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
|
|
|
|
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
|
|
|
|
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
|
|
|
|
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp)
|
rs2108528467
|
|
|
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser)
|
rs1022408190
|
|
|
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
|
rs1182086058
|
|
|
NM_020166.5(MCCC1):c.462A>G (p.Pro154=)
|
rs1010978187
|
|
|
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
|
|
|
|
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln)
|
rs747747680
|
|
|
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
|
|
|
|
NM_020166.5(MCCC1):c.491+10T>C
|
|
|
|
NM_020166.5(MCCC1):c.491+13A>G
|
|
|
|
NM_020166.5(MCCC1):c.491+14T>G
|
|
|
|
NM_020166.5(MCCC1):c.491+8T>C
|
|
|
|
NM_020166.5(MCCC1):c.492-11C>G
|
|
|
|
NM_020166.5(MCCC1):c.492-16C>A
|
|
|
|
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
|
|
|
|
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe)
|
rs2108526692
|
|
|
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
|
|
|
|
NM_020166.5(MCCC1):c.519T>C (p.Ala173=)
|
rs2108526654
|
|
|
NM_020166.5(MCCC1):c.51C>T (p.Asn17=)
|
rs557695078
|
|
|
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
|
rs1716671130
|
|
|
NM_020166.5(MCCC1):c.532del (p.Val178fs)
|
|
|
|
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter)
|
rs2108526606
|
|
|
NM_020166.5(MCCC1):c.556del (p.Gln186fs)
|
rs2108526541
|
|
|
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
|
rs1212517901
|
|
|
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
|
|
|
|
NM_020166.5(MCCC1):c.582C>T (p.His194=)
|
|
|
|
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
|
rs1716663064
|
|
|
NM_020166.5(MCCC1):c.59A>G (p.His20Arg)
|
rs751663186
|
|
|
NM_020166.5(MCCC1):c.5C>A (p.Ala2Glu)
|
|
|
|
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
|
|
|
|
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
|
rs1406515651
|
|
|
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
|
|
|
|
NM_020166.5(MCCC1):c.622C>A (p.Arg208=)
|
rs759345755
|
|
|
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
|
|
|
|
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
|
|
|
|
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
|
rs186209189
|
|
|
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
|
|
|
|
NM_020166.5(MCCC1):c.635del (p.Gly212fs)
|
rs2108526355
|
|
|
NM_020166.5(MCCC1):c.639+11G>T
|
rs1716653818
|
|
|
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA
|
rs1716653595
|
|
|
NM_020166.5(MCCC1):c.639+16C>G
|
|
|
|
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
|
|
|
|
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_020166.5(MCCC1):c.639+6A>T
|
|
|
|
NM_020166.5(MCCC1):c.639+7T>G
|
|
|
|
NM_020166.5(MCCC1):c.639+8T>G
|
|
|
|
NM_020166.5(MCCC1):c.639+9G>A
|
|
|
|
NM_020166.5(MCCC1):c.640-10T>C
|
rs1011275855
|
|
|
NM_020166.5(MCCC1):c.640-16A>G
|
|
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
|
NM_020166.5(MCCC1):c.640-5C>A
|
rs892786406
|
|
|
NM_020166.5(MCCC1):c.640-7C>G
|
rs1414857427
|
|
|
NM_020166.5(MCCC1):c.640_641delGG
|
rs886058209
|
|
|
NM_020166.5(MCCC1):c.648G>A (p.Arg216=)
|
rs2108526043
|
|
|
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
|
|
|
|
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
|
|
|
|
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
|
rs2108526023
|
|
|
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
|
rs750778690
|
|
|
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
|
rs779412317
|
|
|
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter)
|
rs1553862845
|
|
|
NM_020166.5(MCCC1):c.678A>G (p.Glu226=)
|
rs1577328315
|
|
|
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs)
|
rs1716637067
|
|
|
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
|
|
|
|
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
|
|
|
|
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
|
|
|
|
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
|
|
|
|
NM_020166.5(MCCC1):c.69G>A (p.Pro23=)
|
rs567116244
|
|
|
NM_020166.5(MCCC1):c.69G>C (p.Pro23=)
|
rs567116244
|
|
|
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys)
|
rs2108525897
|
|
|
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
|
rs1577328234
|
|
|
NM_020166.5(MCCC1):c.729T>C (p.Ala243=)
|
rs886058208
|
|
|
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
|
rs369227006
|
|
|
NM_020166.5(MCCC1):c.738C>A (p.Ile246=)
|
rs766095348
|
|
|
NM_020166.5(MCCC1):c.738C>T (p.Ile246=)
|
rs766095348
|
|
|
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer)
|
rs1560256569
|
|
|
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
|
|
|
|
NM_020166.5(MCCC1):c.761+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.762-13del
|
|
|
|
NM_020166.5(MCCC1):c.762-2A>G
|
|
|
|
NM_020166.5(MCCC1):c.762-2_762-1del
|
rs2108505736
|
|
|
NM_020166.5(MCCC1):c.762-9T>C
|
rs2108505742
|
|
|
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
|
rs149389595
|
|
|
NM_020166.5(MCCC1):c.763C>A (p.His255Asn)
|
rs952365421
|
|
|
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
|
|
|
|
NM_020166.5(MCCC1):c.768A>G (p.Val256=)
|
rs567236851
|
|
|
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
|
|
|
|
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
|
|
|
|
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
|
|
|
|
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
|
|
|
|
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala)
|
rs1315920706
|
|
|
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
|
|
|
|
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)
|
rs1439662567
|
|
|
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
|
|
|
|
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
|
|
|
|
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
|
|
|
|
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
|
rs1715498129
|
|
|
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn)
|
rs2108505562
|
|
|
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
|
rs1715495987
|
|
|
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
|
|
|
|
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
|
rs1267237320
|
|
|
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
|
|
|
|
NM_020166.5(MCCC1):c.867C>A (p.Ala289=)
|
rs2108505485
|
|
|
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
|
|
|
|
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu)
|
rs201041864
|
|
|
NM_020166.5(MCCC1):c.873+16A>G
|
|
|
|
NM_020166.5(MCCC1):c.873+17G>C
|
|
|
|
NM_020166.5(MCCC1):c.873+17G>T
|
|
|
|
NM_020166.5(MCCC1):c.873+1G>A
|
|
|
|
NM_020166.5(MCCC1):c.873_873+3dup
|
rs2108505458
|
|
|
NM_020166.5(MCCC1):c.874-13A>T
|
|
|
|
NM_020166.5(MCCC1):c.874-15A>T
|
|
|
|
NM_020166.5(MCCC1):c.874-18T>A
|
|
|
|
NM_020166.5(MCCC1):c.874-4A>G
|
|
|
|
NM_020166.5(MCCC1):c.874-6del
|
rs755494348
|
|
|
NM_020166.5(MCCC1):c.874-6dup
|
rs755494348
|
|
|
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
|
|
|
|
NM_020166.5(MCCC1):c.87G>A (p.Pro29=)
|
rs1383349919
|
|
|
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
|
|
|
|
NM_020166.5(MCCC1):c.89+12G>A
|
|
|
|
NM_020166.5(MCCC1):c.89+16A>G
|
|
|
|
NM_020166.5(MCCC1):c.89+17T>C
|
|
|
|
NM_020166.5(MCCC1):c.89+1G>A
|
rs771730236
|
|
|
NM_020166.5(MCCC1):c.89+8G>A
|
|
|
|
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
|
|
|
|
NM_020166.5(MCCC1):c.90-12T>C
|
|
|
|
NM_020166.5(MCCC1):c.90-19T>G
|
|
|
|
NM_020166.5(MCCC1):c.90-1G>A
|
|
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
|
NM_020166.5(MCCC1):c.90-5T>C
|
|
|
|
NM_020166.5(MCCC1):c.90-7G>A
|
rs1490296486
|
|
|
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser)
|
rs1191290699
|
|
|
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr)
|
rs1715029507
|
|
|
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
|
|
|
|
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
|
|
|
|
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)
|
rs150862707
|
|
|
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
|
|
|
|
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
|
rs1577295874
|
|
|
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val)
|
rs1577295874
|
|
|
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs)
|
rs2108496973
|
|
|
NM_020166.5(MCCC1):c.955+10G>T
|
rs1004658113
|
|
|
NM_020166.5(MCCC1):c.955+16C>T
|
|
|
|
NM_020166.5(MCCC1):c.955+1G>A
|
rs1340827377
|
|
|
NM_020166.5(MCCC1):c.955+1G>T
|
|
|
|
NM_020166.5(MCCC1):c.955+6T>C
|
|
|
|
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
|
|
|
|
NM_020166.5(MCCC1):c.956-10dup
|
rs747546545
|
|
|
NM_020166.5(MCCC1):c.956-15T>C
|
|
|
|
NM_020166.5(MCCC1):c.956-19A>G
|
|
|
|
NM_020166.5(MCCC1):c.956-7C>G
|
|
|
|
NM_020166.5(MCCC1):c.956-8C>T
|
rs1577284365
|
|
|
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu)
|
rs2108486818
|
|
|
NM_020166.5(MCCC1):c.960del (p.Val321fs)
|
|
|
|
NM_020166.5(MCCC1):c.969T>C (p.Phe323=)
|
rs2108486797
|
|
|
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
|
|
|
|
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
|
|
|
|
NM_020166.5(MCCC1):c.987_988del (p.His329fs)
|
rs1553856095
|
|
|
NM_020166.5(MCCC1):c.99G>A (p.Val33=)
|
rs1718607448
|
|
|
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met)
|
rs2060222738
|
|
|
NM_020686.6(ABAT):c.1027C>T (p.His343Tyr)
|
rs1280175936
|
|
|
NM_020686.6(ABAT):c.102A>C (p.Lys34Asn)
|
|
|
|
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp)
|
rs2142996825
|
|
|
NM_020686.6(ABAT):c.1036C>G (p.Leu346Val)
|
|
|
|
NM_020686.6(ABAT):c.1036C>T (p.Leu346=)
|
|
|
|
NM_020686.6(ABAT):c.1039G>A (p.Asp347Asn)
|
|
|
|
NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)
|
|
|
|
NM_020686.6(ABAT):c.1047A>G (p.Pro349=)
|
rs761184958
|
|
|
NM_020686.6(ABAT):c.1049C>A (p.Ala350Glu)
|
rs2060224233
|
|
|
NM_020686.6(ABAT):c.1058T>G (p.Met353Arg)
|
rs2060224524
|
|
|
NM_020686.6(ABAT):c.1075A>G (p.Met359Val)
|
rs2060225110
|
|
|
NM_020686.6(ABAT):c.1080G>A (p.Met360Ile)
|
rs2142996879
|
|
|
NM_020686.6(ABAT):c.108C>A (p.Asp36Glu)
|
rs751650520
|
|
|
NM_020686.6(ABAT):c.108C>T (p.Asp36=)
|
rs751650520
|
|
|
NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)
|
|
|
|
NM_020686.6(ABAT):c.1122+11G>C
|
|
|
|
NM_020686.6(ABAT):c.1122+12C>T
|
|
|
|
NM_020686.6(ABAT):c.1123-14G>A
|
rs758870080
|
|
|
NM_020686.6(ABAT):c.1123-14G>T
|
|
|
|
NM_020686.6(ABAT):c.1123-15C>G
|
rs376574278
|
|
|
NM_020686.6(ABAT):c.1123-18A>G
|
|
|
|
NM_020686.6(ABAT):c.1123-1G>A
|
rs1596472500
|
|
|
NM_020686.6(ABAT):c.1123-20A>C
|
|
|
|
NM_020686.6(ABAT):c.1125C>T (p.Pro375=)
|
|
|
|
NM_020686.6(ABAT):c.1128C>G (p.Tyr376Ter)
|
|
|
|
NM_020686.6(ABAT):c.1139A>G (p.Asn380Ser)
|
rs1555493454
|
|
|
NM_020686.6(ABAT):c.1140C>T (p.Asn380=)
|
rs770156912
|
|
|
NM_020686.6(ABAT):c.1148T>A (p.Leu383Gln)
|
rs2142998232
|
|
|
NM_020686.6(ABAT):c.1152G>T (p.Gly384=)
|
|
|
|
NM_020686.6(ABAT):c.1155C>A (p.Asp385Glu)
|
rs2142998239
|
|
|
NM_020686.6(ABAT):c.1158G>T (p.Pro386=)
|
|
|
|
NM_020686.6(ABAT):c.1163A>G (p.Lys388Arg)
|
|
|
|
NM_020686.6(ABAT):c.1168C>G (p.Leu390Val)
|
rs537999087
|
|
|
NM_020686.6(ABAT):c.1168C>T (p.Leu390=)
|
|
|
|
NM_020686.6(ABAT):c.1170G>C (p.Leu390=)
|
|
|
|
NM_020686.6(ABAT):c.1170G>T (p.Leu390=)
|
rs1216400203
|
|
|
NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)
|
|
|
|
NM_020686.6(ABAT):c.1182G>A (p.Glu394=)
|
|
|
|
NM_020686.6(ABAT):c.1183G>A (p.Val395Ile)
|
rs1390975236
|
|
|
NM_020686.6(ABAT):c.1192A>C (p.Ile398Leu)
|
rs2060264213
|
|
|
NM_020686.6(ABAT):c.1194C>T (p.Ile398=)
|
|
|
|
NM_020686.6(ABAT):c.1208A>G (p.Asp403Gly)
|
rs1395351659
|
|
|
NM_020686.6(ABAT):c.1210C>T (p.Leu404=)
|
rs1256407713
|
|
|
NM_020686.6(ABAT):c.1227C>A (p.Ala409=)
|
|
|
|
NM_020686.6(ABAT):c.1232C>A (p.Ala411Asp)
|
|
|
|
NM_020686.6(ABAT):c.1233C>A (p.Ala411=)
|
|
|
|
NM_020686.6(ABAT):c.1233C>G (p.Ala411=)
|
rs147188899
|
|
|
NM_020686.6(ABAT):c.1233C>T (p.Ala411=)
|
rs147188899
|
|
|
NM_020686.6(ABAT):c.1238A>G (p.Lys413Arg)
|
|
|
|
NM_020686.6(ABAT):c.1248C>T (p.Leu416=)
|
|
|
|
NM_020686.6(ABAT):c.1260G>A (p.Leu420=)
|
|
|
|
NM_020686.6(ABAT):c.1269+18G>A
|
rs1567317709
|
|
|
NM_020686.6(ABAT):c.1269+20C>T
|
|
|
|
NM_020686.6(ABAT):c.1269+9C>G
|
rs2142998394
|
|
|
NM_020686.6(ABAT):c.1270-11T>C
|
|
|
|
NM_020686.6(ABAT):c.1270-17G>T
|
|
|
|
NM_020686.6(ABAT):c.1270-19T>G
|
|
|
|
NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)
|
|
|
|
NM_020686.6(ABAT):c.1274G>T (p.Arg425Leu)
|
rs368127499
|
|
|
NM_020686.6(ABAT):c.1287C>A (p.Phe429Leu)
|
rs772526517
|
|
|
NM_020686.6(ABAT):c.1293C>T (p.Ser431=)
|
rs2143002708
|
|
|
NM_020686.6(ABAT):c.1296G>A (p.Arg432=)
|
|
|
|
NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)
|
|
|
|
NM_020686.6(ABAT):c.1323C>T (p.Ser441=)
|
rs1233713916
|
|
|
NM_020686.6(ABAT):c.1323del (p.Phe442fs)
|
rs2060370206
|
|
|
NM_020686.6(ABAT):c.1324T>G (p.Phe442Val)
|
rs2143002786
|
|
|
NM_020686.6(ABAT):c.1326C>A (p.Phe442Leu)
|
rs201566019
|
|
|
NM_020686.6(ABAT):c.1326C>T (p.Phe442=)
|
rs201566019
|
|
|
NM_020686.6(ABAT):c.1327G>C (p.Asp443His)
|
|
|
|
NM_020686.6(ABAT):c.1333C>T (p.Pro445Ser)
|
rs1345863425
|
|
|
NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)
|
|
|
|
NM_020686.6(ABAT):c.1338T>C (p.Asp446=)
|
rs756005421
|
|
|
NM_020686.6(ABAT):c.1344C>T (p.Ser448=)
|
rs2143002825
|
|
|
NM_020686.6(ABAT):c.1354A>T (p.Lys452Ter)
|
rs1596474539
|
|
|
NM_020686.6(ABAT):c.1356G>T (p.Lys452Asn)
|
rs1219517329
|
|
|
NM_020686.6(ABAT):c.135G>A (p.Leu45=)
|
|
|
|
NM_020686.6(ABAT):c.1363T>G (p.Leu455Val)
|
rs1555493999
|
|
|
NM_020686.6(ABAT):c.1366A>G (p.Ile456Val)
|
rs1485966037
|
|
|
NM_020686.6(ABAT):c.1367T>C (p.Ile456Thr)
|
|
|
|
NM_020686.6(ABAT):c.1368T>A (p.Ile456=)
|
|
|
|
NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)
|
|
|
|
NM_020686.6(ABAT):c.1370C>T (p.Ala457Val)
|
rs769027199
|
|
|
NM_020686.6(ABAT):c.1374A>G (p.Arg458=)
|
|
|
|
NM_020686.6(ABAT):c.1381+1G>T
|
|
|
|
NM_020686.6(ABAT):c.1381+6G>T
|
rs777241102
|
|
|
NM_020686.6(ABAT):c.1382-10C>T
|
rs2060432035
|
|
|
NM_020686.6(ABAT):c.1382-16C>T
|
|
|
|
NM_020686.6(ABAT):c.1382-9C>T
|
rs1404962969
|
|
|
NM_020686.6(ABAT):c.1384G>A (p.Val462Met)
|
|
|
|
NM_020686.6(ABAT):c.1389G>A (p.Val463=)
|
rs2060432508
|
|
|
NM_020686.6(ABAT):c.13T>C (p.Leu5=)
|
rs2058905642
|
|
|
NM_020686.6(ABAT):c.1407C>G (p.Asp469Glu)
|
|
|
|
NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr)
|
rs1596475613
|
|
|
NM_020686.6(ABAT):c.1421T>G (p.Phe474Cys)
|
rs1280757572
|
|
|
NM_020686.6(ABAT):c.1423C>T (p.Arg475Cys)
|
|
|
|
NM_020686.6(ABAT):c.1425T>A (p.Arg475=)
|
|
|
|
NM_020686.6(ABAT):c.1435G>T (p.Val479Phe)
|
rs1555494309
|
|
|
NM_020686.6(ABAT):c.143C>T (p.Thr48Met)
|
|
|
|
NM_020686.6(ABAT):c.1449C>A (p.His483Gln)
|
|
|
|
NM_020686.6(ABAT):c.144G>A (p.Thr48=)
|
rs777699903
|
|
|
NM_020686.6(ABAT):c.144G>T (p.Thr48=)
|
rs777699903
|
|
|
NM_020686.6(ABAT):c.1454C>G (p.Ala485Gly)
|
|
|
|
NM_020686.6(ABAT):c.1459C>G (p.Leu487Val)
|
|
|
|
NM_020686.6(ABAT):c.1461G>A (p.Leu487=)
|
|
|
|
NM_020686.6(ABAT):c.1491A>C (p.Ala497=)
|
rs1290355155
|
|
|
NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)
|
|
|
|
NM_020686.6(ABAT):c.1498A>G (p.Lys500Glu)
|
|
|
|
NM_020686.6(ABAT):c.14T>G (p.Leu5Trp)
|
rs1346245434
|
|
|
NM_020686.6(ABAT):c.1501_*2del (p.Ter501LysextTer?)
|
rs756457894
|
|
|
NM_020686.6(ABAT):c.150C>T (p.Val50=)
|
rs2142624986
|
|
|
NM_020686.6(ABAT):c.163T>C (p.Ser55Pro)
|
rs2059320233
|
|
|
NM_020686.6(ABAT):c.168+18G>C
|
|
|
|
NM_020686.6(ABAT):c.168+20G>T
|
|
|
|
NM_020686.6(ABAT):c.168+5G>T
|
rs539641450
|
|
|
NM_020686.6(ABAT):c.168+6T>A
|
rs2059320859
|
|
|
NM_020686.6(ABAT):c.169-13T>A
|
rs754077432
|
|
|
NM_020686.6(ABAT):c.169-14_169-12del
|
rs1470661184
|
|
|
NM_020686.6(ABAT):c.169-5T>A
|
|
|
|
NM_020686.6(ABAT):c.169-5_169-4inv
|
|
|
|
NM_020686.6(ABAT):c.169-8G>C
|
rs2059383863
|
|
|
NM_020686.6(ABAT):c.186G>C (p.Leu62=)
|
|
|
|
NM_020686.6(ABAT):c.186G>T (p.Leu62=)
|
|
|
|
NM_020686.6(ABAT):c.198+10G>A
|
rs748922986
|
|
|
NM_020686.6(ABAT):c.198+16G>A
|
|
|
|
NM_020686.6(ABAT):c.198+23_198+27del
|
rs1357421251
|
|
|
NM_020686.6(ABAT):c.198+7G>A
|
|
|
|
NM_020686.6(ABAT):c.198+9_198+10insT
|
|
|
|
NM_020686.6(ABAT):c.199-13T>C
|
|
|
|
NM_020686.6(ABAT):c.199-18G>A
|
|
|
|
NM_020686.6(ABAT):c.199-2A>C
|
|
|
|
NM_020686.6(ABAT):c.199-6T>C
|
|
|
|
NM_020686.6(ABAT):c.199A>T (p.Asn67Tyr)
|
|
|
|
NM_020686.6(ABAT):c.1A>G (p.Met1Val)
|
rs1160815812
|
|
|
NM_020686.6(ABAT):c.208G>T (p.Ala70Ser)
|
rs540109350
|
|
|
NM_020686.6(ABAT):c.214C>A (p.His72Asn)
|
|
|
|
NM_020686.6(ABAT):c.224G>T (p.Cys75Phe)
|
|
|
|
NM_020686.6(ABAT):c.226A>G (p.Asn76Asp)
|
|
|
|
NM_020686.6(ABAT):c.228T>C (p.Asn76=)
|
|
|
|
NM_020686.6(ABAT):c.236A>T (p.Glu79Val)
|
rs1596454363
|
|
|
NM_020686.6(ABAT):c.264G>A (p.Val88=)
|
|
|
|
NM_020686.6(ABAT):c.274C>T (p.Arg92Ter)
|
|
|
|
NM_020686.6(ABAT):c.303C>T (p.Ser101=)
|
|
|
|
NM_020686.6(ABAT):c.307G>T (p.Val103Phe)
|
rs2142726624
|
|
|
NM_020686.6(ABAT):c.314T>C (p.Ile105Thr)
|
rs1596454443
|
|
|
NM_020686.6(ABAT):c.316+12G>C
|
|
|
|
NM_020686.6(ABAT):c.316+15A>G
|
|
|
|
NM_020686.6(ABAT):c.316+7G>C
|
rs2142726854
|
|
|
NM_020686.6(ABAT):c.316+9T>C
|
rs1596454454
|
|
|
NM_020686.6(ABAT):c.317-15C>T
|
|
|
|
NM_020686.6(ABAT):c.317-18dup
|
|
|
|
NM_020686.6(ABAT):c.317-2A>G
|
|
|
|
NM_020686.6(ABAT):c.317-5C>G
|
rs781499078
|
|
|
NM_020686.6(ABAT):c.317-5C>T
|
rs781499078
|
|
|
NM_020686.6(ABAT):c.317-7C>T
|
|
|
|
NM_020686.6(ABAT):c.323G>A (p.Ser108Asn)
|
|
|
|
NM_020686.6(ABAT):c.327C>T (p.His109=)
|
rs1393125718
|
|
|
NM_020686.6(ABAT):c.328C>T (p.Pro110Ser)
|
rs2142848668
|
|
|
NM_020686.6(ABAT):c.332C>A (p.Ala111Asp)
|
rs771274821
|
|
|
NM_020686.6(ABAT):c.345C>T (p.Leu115=)
|
|
|
|
NM_020686.6(ABAT):c.366G>A (p.Ala122=)
|
rs866554267
|
|
|
NM_020686.6(ABAT):c.367-11C>A
|
rs368243612
|
|
|
NM_020686.6(ABAT):c.367-15C>G
|
rs2142919190
|
|
|
NM_020686.6(ABAT):c.36C>T (p.Cys12=)
|
|
|
|
NM_020686.6(ABAT):c.378C>T (p.Val126=)
|
|
|
|
NM_020686.6(ABAT):c.378dup (p.Asn127fs)
|
|
|
|
NM_020686.6(ABAT):c.417T>C (p.Phe139=)
|
rs2142919912
|
|
|
NM_020686.6(ABAT):c.420G>A (p.Val140=)
|
rs1596464284
|
|
|
NM_020686.6(ABAT):c.42C>G (p.Phe14Leu)
|
rs1567293995
|
|
|
NM_020686.6(ABAT):c.432G>C (p.Arg144=)
|
rs974152356
|
|
|
NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)
|
|
|
|
NM_020686.6(ABAT):c.437C>T (p.Ser146Phe)
|
|
|
|
NM_020686.6(ABAT):c.439T>C (p.Leu147=)
|
|
|
|
NM_020686.6(ABAT):c.441G>C (p.Leu147Phe)
|
rs747914194
|
|
|
NM_020686.6(ABAT):c.442C>T (p.Leu148Phe)
|
|
|
|
NM_020686.6(ABAT):c.444C>G (p.Leu148=)
|
|
|
|
NM_020686.6(ABAT):c.446C>G (p.Ser149Trp)
|
rs374113959
|
|
|
NM_020686.6(ABAT):c.446C>T (p.Ser149Leu)
|
rs374113959
|
|
|
NM_020686.6(ABAT):c.447+12A>T
|
rs2142920603
|
|
|
NM_020686.6(ABAT):c.447+15A>G
|
|
|
|
NM_020686.6(ABAT):c.447+17C>A
|
rs376401008
|
|
|
NM_020686.6(ABAT):c.447+17C>T
|
rs376401008
|
|
|
NM_020686.6(ABAT):c.447+20T>A
|
|
|
|
NM_020686.6(ABAT):c.447G>A (p.Ser149=)
|
|
|
|
NM_020686.6(ABAT):c.447G>C (p.Ser149=)
|
rs376531387
|
|
|
NM_020686.6(ABAT):c.447G>T (p.Ser149=)
|
rs376531387
|
|
|
NM_020686.6(ABAT):c.448-10C>A
|
|
|
|
NM_020686.6(ABAT):c.448-11C>T
|
|
|
|
NM_020686.6(ABAT):c.448-18C>A
|
|
|
|
NM_020686.6(ABAT):c.448-18C>T
|
rs2142927888
|
|
|
NM_020686.6(ABAT):c.448-5C>T
|
rs374659543
|
|
|
NM_020686.6(ABAT):c.458A>G (p.Lys153Arg)
|
rs2142928367
|
|
|
NM_020686.6(ABAT):c.45G>A (p.Gln15=)
|
|
|
|
NM_020686.6(ABAT):c.471G>A (p.Gln157=)
|
rs762337644
|
|
|
NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)
|
|
|
|
NM_020686.6(ABAT):c.501C>T (p.Ser167=)
|
rs753562528
|
|
|
NM_020686.6(ABAT):c.502A>G (p.Asn168Asp)
|
rs1596464782
|
|
|
NM_020686.6(ABAT):c.503A>G (p.Asn168Ser)
|
rs757056947
|
|
|
NM_020686.6(ABAT):c.513C>T (p.Ala171=)
|
|
|
|
NM_020686.6(ABAT):c.522C>T (p.Thr174=)
|
|
|
|
NM_020686.6(ABAT):c.531G>A (p.Met177Ile)
|
|
|
|
NM_020686.6(ABAT):c.539G>A (p.Arg180Gln)
|
rs776431473
|
|
|
NM_020686.6(ABAT):c.540+14CA[10]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[12]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[13]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[14]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[15]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[16]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[6]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[7]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[8]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+14CA[9]
|
rs35745596
|
|
|
NM_020686.6(ABAT):c.540+16C>A
|
|
|
|
NM_020686.6(ABAT):c.540+17A>G
|
|
|
|
NM_020686.6(ABAT):c.540+5G>T
|
rs2059896686
|
|
|
NM_020686.6(ABAT):c.540+8T>C
|
rs762214989
|
|
|
NM_020686.6(ABAT):c.541-15G>C
|
rs779730449
|
|
|
NM_020686.6(ABAT):c.541-5T>C
|
|
|
|
NM_020686.6(ABAT):c.558G>A (p.Gln186=)
|
|
|
|
NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)
|
rs77696190
|
|
|
NM_020686.6(ABAT):c.560G>C (p.Arg187Thr)
|
rs1156477140
|
|
|
NM_020686.6(ABAT):c.563G>C (p.Gly188Ala)
|
|
|
|
NM_020686.6(ABAT):c.56G>T (p.Arg19Leu)
|
rs780368959
|
|
|
NM_020686.6(ABAT):c.57C>T (p.Arg19=)
|
rs1428203927
|
|
|
NM_020686.6(ABAT):c.583G>C (p.Glu195Gln)
|
rs1596465746
|
|
|
NM_020686.6(ABAT):c.585G>A (p.Glu195=)
|
rs2142947004
|
|
|
NM_020686.6(ABAT):c.588G>C (p.Thr196=)
|
|
|
|
NM_020686.6(ABAT):c.589T>A (p.Cys197Ser)
|
rs1567311566
|
|
|
NM_020686.6(ABAT):c.603+15G>C
|
rs1385658702
|
|
|
NM_020686.6(ABAT):c.603+19G>A
|
|
|
|
NM_020686.6(ABAT):c.603+1G>A
|
rs2142947295
|
|
|
NM_020686.6(ABAT):c.604-17A>T
|
|
|
|
NM_020686.6(ABAT):c.604-18G>C
|
|
|
|
NM_020686.6(ABAT):c.604-6T>A
|
|
|
|
NM_020686.6(ABAT):c.604-7G>A
|
rs777269086
|
|
|
NM_020686.6(ABAT):c.604G>T (p.Ala202Ser)
|
rs756890572
|
|
|
NM_020686.6(ABAT):c.606C>T (p.Ala202=)
|
rs1555492234
|
|
|
NM_020686.6(ABAT):c.612C>A (p.Gly204=)
|
|
|
|
NM_020686.6(ABAT):c.615C>T (p.Cys205=)
|
|
|
|
NM_020686.6(ABAT):c.618C>G (p.Pro206=)
|
rs373357773
|
|
|
NM_020686.6(ABAT):c.61C>G (p.Leu21Val)
|
|
|
|
NM_020686.6(ABAT):c.625A>G (p.Ser209Gly)
|
rs2060001644
|
|
|
NM_020686.6(ABAT):c.630C>T (p.Ile210=)
|
|
|
|
NM_020686.6(ABAT):c.631C>T (p.Leu211Phe)
|
rs724159990
|
|
|
NM_020686.6(ABAT):c.643G>A (p.Gly215Ser)
|
rs762050203
|
|
|
NM_020686.6(ABAT):c.645C>A (p.Gly215=)
|
rs1139522
|
|
|
NM_020686.6(ABAT):c.645C>T (p.Gly215=)
|
rs1139522
|
|
|
NM_020686.6(ABAT):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_020686.6(ABAT):c.64_66del (p.Val22del)
|
rs1412155029
|
|
|
NM_020686.6(ABAT):c.65T>A (p.Val22Glu)
|
|
|
|
NM_020686.6(ABAT):c.660G>A (p.Arg220=)
|
|
|
|
NM_020686.6(ABAT):c.665T>C (p.Met222Thr)
|
|
|
|
NM_020686.6(ABAT):c.667+13C>T
|
|
|
|
NM_020686.6(ABAT):c.667+15T>G
|
|
|
|
NM_020686.6(ABAT):c.667+19G>A
|
rs546406644
|
|
|
NM_020686.6(ABAT):c.667+7A>C
|
|
|
|
NM_020686.6(ABAT):c.667+7_667+8dup
|
rs748783252
|
|
|
NM_020686.6(ABAT):c.66G>A (p.Val22=)
|
|
|
|
NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)
|
|
|
|
NM_020686.6(ABAT):c.677C>T (p.Ala226Val)
|
rs372807667
|
|
|
NM_020686.6(ABAT):c.678G>C (p.Ala226=)
|
rs112564762
|
|
|
NM_020686.6(ABAT):c.683C>T (p.Thr228Met)
|
rs1174585175
|
|
|
NM_020686.6(ABAT):c.689C>G (p.Ser230Cys)
|
|
|
|
NM_020686.6(ABAT):c.68C>A (p.Pro23His)
|
rs369376388
|
|
|
NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)
|
|
|
|
NM_020686.6(ABAT):c.70+13G>C
|
|
|
|
NM_020686.6(ABAT):c.70+14G>A
|
|
|
|
NM_020686.6(ABAT):c.70+16C>T
|
|
|
|
NM_020686.6(ABAT):c.70+6C>A
|
rs369944447
|
|
|
NM_020686.6(ABAT):c.70+7C>T
|
rs1350929505
|
|
|
NM_020686.6(ABAT):c.70+9C>G
|
|
|
|
NM_020686.6(ABAT):c.70+9del
|
|
|
|
NM_020686.6(ABAT):c.70+9dup
|
|
|
|
NM_020686.6(ABAT):c.706A>G (p.Ile236Val)
|
rs2142977210
|
|
|
NM_020686.6(ABAT):c.70G>A (p.Gly24Arg)
|
|
|
|
NM_020686.6(ABAT):c.71-10T>C
|
|
|
|
NM_020686.6(ABAT):c.71-12del
|
rs781324531
|
|
|
NM_020686.6(ABAT):c.71-19T>C
|
rs2142622264
|
|
|
NM_020686.6(ABAT):c.71-4G>A
|
|
|
|
NM_020686.6(ABAT):c.731C>T (p.Pro244Leu)
|
|
|
|
NM_020686.6(ABAT):c.732C>G (p.Pro244=)
|
rs2060021356
|
|
|
NM_020686.6(ABAT):c.733A>G (p.Ile245Val)
|
|
|
|
NM_020686.6(ABAT):c.736G>C (p.Ala246Pro)
|
rs768632370
|
|
|
NM_020686.6(ABAT):c.748C>A (p.Arg250=)
|
|
|
|
NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)
|
|
|
|
NM_020686.6(ABAT):c.749G>A (p.Arg250Gln)
|
rs375002262
|
|
|
NM_020686.6(ABAT):c.749G>T (p.Arg250Leu)
|
rs375002262
|
|
|
NM_020686.6(ABAT):c.74C>G (p.Ser25Cys)
|
|
|
|
NM_020686.6(ABAT):c.751C>T (p.Leu251=)
|
|
|
|
NM_020686.6(ABAT):c.759C>T (p.Tyr253=)
|
rs2060022284
|
|
|
NM_020686.6(ABAT):c.761C>T (p.Pro254Leu)
|
rs2060022335
|
|
|
NM_020686.6(ABAT):c.763C>T (p.Leu255=)
|
|
|
|
NM_020686.6(ABAT):c.772T>C (p.Phe258Leu)
|
rs1179196079
|
|
|
NM_020686.6(ABAT):c.77G>C (p.Arg26Thr)
|
rs2142623083
|
|
|
NM_020686.6(ABAT):c.798G>A (p.Glu266=)
|
|
|
|
NM_020686.6(ABAT):c.79C>A (p.His27Asn)
|
|
|
|
NM_020686.6(ABAT):c.806G>A (p.Cys269Tyr)
|
|
|
|
NM_020686.6(ABAT):c.816+12A>G
|
|
|
|
NM_020686.6(ABAT):c.816+16T>C
|
|
|
|
NM_020686.6(ABAT):c.816+9C>G
|
|
|
|
NM_020686.6(ABAT):c.817-13C>T
|
|
|
|
NM_020686.6(ABAT):c.817-16C>T
|
|
|
|
NM_020686.6(ABAT):c.817-18_817-17del
|
|
|
|
NM_020686.6(ABAT):c.817-20C>T
|
rs2142993666
|
|
|
NM_020686.6(ABAT):c.829_832del (p.Leu276_Ile277insTer)
|
|
|
|
NM_020686.6(ABAT):c.834G>A (p.Val278=)
|
rs905413679
|
|
|
NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)
|
|
|
|
NM_020686.6(ABAT):c.844A>G (p.Lys282Glu)
|
rs2142993736
|
|
|
NM_020686.6(ABAT):c.848AGA[2] (p.Lys285del)
|
rs748632743
|
|
|
NM_020686.6(ABAT):c.866_874dup (p.Gly289_Ile291dup)
|
rs2060152853
|
|
|
NM_020686.6(ABAT):c.871A>G (p.Ile291Val)
|
|
|
|
NM_020686.6(ABAT):c.879G>A (p.Glu293=)
|
|
|
|
NM_020686.6(ABAT):c.882C>T (p.Pro294=)
|
rs2060153469
|
|
|
NM_020686.6(ABAT):c.885C>T (p.Ile295=)
|
rs2142993787
|
|
|
NM_020686.6(ABAT):c.891C>G (p.Ser297=)
|
rs142228298
|
|
|
NM_020686.6(ABAT):c.891C>T (p.Ser297=)
|
rs142228298
|
|
|
NM_020686.6(ABAT):c.892G>A (p.Glu298Lys)
|
rs1443323102
|
|
|
NM_020686.6(ABAT):c.915C>T (p.Ser305=)
|
|
|
|
NM_020686.6(ABAT):c.936G>A (p.Leu312=)
|
rs1596470421
|
|
|
NM_020686.6(ABAT):c.938G>C (p.Arg313Thr)
|
rs2142993864
|
|
|
NM_020686.6(ABAT):c.945C>A (p.Ile315=)
|
|
|
|
NM_020686.6(ABAT):c.945C>T (p.Ile315=)
|
rs368667677
|
|
|
NM_020686.6(ABAT):c.954+10C>G
|
|
|
|
NM_020686.6(ABAT):c.954+13G>T
|
|
|
|
NM_020686.6(ABAT):c.954+14G>A
|
rs2060156324
|
|
|
NM_020686.6(ABAT):c.954+15C>A
|
|
|
|
NM_020686.6(ABAT):c.954+15C>T
|
rs748546258
|
|
|
NM_020686.6(ABAT):c.954+8G>A
|
|
|
|
NM_020686.6(ABAT):c.955-13C>A
|
rs749756374
|
|
|
NM_020686.6(ABAT):c.955-15C>T
|
rs778033706
|
|
|
NM_020686.6(ABAT):c.955-4C>G
|
rs774347728
|
|
|
NM_020686.6(ABAT):c.955-8C>A
|
|
|
|
NM_020686.6(ABAT):c.959G>T (p.Gly320Val)
|
|
|
|
NM_020686.6(ABAT):c.96A>C (p.Ala32=)
|
rs2059317913
|
|
|
NM_020686.6(ABAT):c.970T>C (p.Leu324=)
|
|
|
|
NM_020686.6(ABAT):c.972G>T (p.Leu324Phe)
|
|
|
|
NM_020686.6(ABAT):c.979G>A (p.Glu327Lys)
|
|
|
|
NM_020686.6(ABAT):c.997G>C (p.Gly333Arg)
|
|
|
|
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
|
|
|
|
NM_022132.5(MCCC2):c.1000-17G>A
|
|
|
|
NM_022132.5(MCCC2):c.1000-2A>G
|
rs2112453728
|
|
|
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
|
rs980603424
|
|
|
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=)
|
rs760703487
|
|
|
NM_022132.5(MCCC2):c.103C>A (p.Pro35Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1055G>T (p.Gly352Val)
|
|
|
|
NM_022132.5(MCCC2):c.1072+12A>T
|
|
|
|
NM_022132.5(MCCC2):c.1072+14G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+17T>C
|
|
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1072+9G>A
|
rs779091338
|
|
|
NM_022132.5(MCCC2):c.1073-9T>C
|
|
|
|
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter)
|
rs763293192
|
|
|
NM_022132.5(MCCC2):c.1082G>A (p.Arg361Gln)
|
rs991211481
|
|
|
NM_022132.5(MCCC2):c.1100T>C (p.Val367Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1103del (p.Gly368fs)
|
rs756218448
|
|
|
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=)
|
|
|
|
NM_022132.5(MCCC2):c.1127T>C (p.Leu376Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=)
|
|
|
|
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=)
|
rs758139797
|
|
|
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=)
|
|
|
|
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
|
|
|
|
NM_022132.5(MCCC2):c.1149+1G>A
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.1149+1G>T
|
rs2112460011
|
|
|
NM_022132.5(MCCC2):c.114C>T (p.Gly38=)
|
rs750638270
|
|
|
NM_022132.5(MCCC2):c.1150-17A>G
|
|
|
|
NM_022132.5(MCCC2):c.1150-17_1150-16del
|
rs904388490
|
|
|
NM_022132.5(MCCC2):c.1150-1G>A
|
|
|
|
NM_022132.5(MCCC2):c.1150-4A>G
|
|
|
|
NM_022132.5(MCCC2):c.1153A>G (p.Thr385Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1159T>G (p.Phe387Val)
|
|
|
|
NM_022132.5(MCCC2):c.1171T>C (p.Cys391Arg)
|
rs781478040
|
|
|
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=)
|
rs2112463698
|
|
|
NM_022132.5(MCCC2):c.117T>C (p.Ser39=)
|
|
|
|
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile)
|
rs531994517
|
|
|
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala)
|
rs2112463755
|
|
|
NM_022132.5(MCCC2):c.1192C>G (p.Leu398Val)
|
|
|
|
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=)
|
rs2112463773
|
|
|
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=)
|
|
|
|
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=)
|
|
|
|
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=)
|
|
|
|
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1216+12G>T
|
|
|
|
NM_022132.5(MCCC2):c.1216+19del
|
|
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
|
NM_022132.5(MCCC2):c.1217-10T>G
|
rs2112467673
|
|
|
NM_022132.5(MCCC2):c.1217-16C>G
|
|
|
|
NM_022132.5(MCCC2):c.1217-16C>T
|
|
|
|
NM_022132.5(MCCC2):c.1217-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.1217-6_1217-3del
|
|
|
|
NM_022132.5(MCCC2):c.122T>G (p.Leu41Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1234del (p.Glu412fs)
|
|
|
|
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
|
rs371587906
|
|
|
NM_022132.5(MCCC2):c.123C>T (p.Leu41=)
|
|
|
|
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
|
rs1580262373
|
|
|
NM_022132.5(MCCC2):c.1268C>A (p.Ala423Asp)
|
|
|
|
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=)
|
rs1747359129
|
|
|
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val)
|
rs766591766
|
|
|
NM_022132.5(MCCC2):c.1275G>A (p.Met425Ile)
|
rs1747359594
|
|
|
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)
|
rs2112251855
|
|
|
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=)
|
rs752877391
|
|
|
NM_022132.5(MCCC2):c.1285G>C (p.Val429Leu)
|
rs2112467816
|
|
|
NM_022132.5(MCCC2):c.129+10G>A
|
|
|
|
NM_022132.5(MCCC2):c.129+16C>T
|
|
|
|
NM_022132.5(MCCC2):c.129+17G>C
|
|
|
|
NM_022132.5(MCCC2):c.129+1G>T
|
rs1744812773
|
|
|
NM_022132.5(MCCC2):c.129+7T>C
|
|
|
|
NM_022132.5(MCCC2):c.129+8G>C
|
|
|
|
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=)
|
rs1407751176
|
|
|
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
|
rs1580262388
|
|
|
NM_022132.5(MCCC2):c.130-16T>C
|
|
|
|
NM_022132.5(MCCC2):c.130-20C>A
|
|
|
|
NM_022132.5(MCCC2):c.130-2A>G
|
|
|
|
NM_022132.5(MCCC2):c.1304C>G (p.Pro435Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs)
|
rs2112467862
|
|
|
NM_022132.5(MCCC2):c.1331C>A (p.Ser444Tyr)
|
|
|
|
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=)
|
|
|
|
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=)
|
|
|
|
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1366G>C (p.Ala456Pro)
|
|
|
|
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=)
|
rs10064079
|
|
|
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1373+16T>G
|
|
|
|
NM_022132.5(MCCC2):c.1373+2T>G
|
rs2112468012
|
|
|
NM_022132.5(MCCC2):c.1374-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
|
rs201060452
|
|
|
NM_022132.5(MCCC2):c.1441G>T (p.Val481Leu)
|
|
|
|
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro)
|
rs1554138549
|
|
|
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=)
|
|
|
|
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=)
|
rs758144158
|
|
|
NM_022132.5(MCCC2):c.1471G>A (p.Ala491Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter)
|
|
|
|
NM_022132.5(MCCC2):c.1488+11T>C
|
|
|
|
NM_022132.5(MCCC2):c.1488+15C>T
|
|
|
|
NM_022132.5(MCCC2):c.1488+18T>G
|
|
|
|
NM_022132.5(MCCC2):c.1488+1G>A
|
rs2112469361
|
|
|
NM_022132.5(MCCC2):c.1488+8T>A
|
|
|
|
NM_022132.5(MCCC2):c.1488+9C>G
|
rs1561848361
|
|
|
NM_022132.5(MCCC2):c.1489-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.1489-16G>A
|
rs1747467303
|
|
|
NM_022132.5(MCCC2):c.1489-3T>A
|
|
|
|
NM_022132.5(MCCC2):c.1489-4T>C
|
rs1747467560
|
|
|
NM_022132.5(MCCC2):c.1489-5T>C
|
|
|
|
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
|
|
|
|
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
|
rs1580334193
|
|
|
NM_022132.5(MCCC2):c.152C>T (p.Ala51Val)
|
|
|
|
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=)
|
rs140220101
|
|
|
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
|
|
|
|
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=)
|
rs1315911728
|
|
|
NM_022132.5(MCCC2):c.1553A>G (p.Asn518Ser)
|
rs1747471598
|
|
|
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser)
|
rs150327768
|
|
|
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
|
rs1747472048
|
|
|
NM_022132.5(MCCC2):c.156A>G (p.Leu52=)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1570G>C (p.Ala524Pro)
|
rs774241918
|
|
|
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=)
|
rs886060738
|
|
|
NM_022132.5(MCCC2):c.1574+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.1574+1G>T
|
rs730880265
|
|
|
NM_022132.5(MCCC2):c.1574+3G>T
|
|
|
|
NM_022132.5(MCCC2):c.1574+5G>T
|
rs781483923
|
|
|
NM_022132.5(MCCC2):c.1574+7dup
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>A
|
|
|
|
NM_022132.5(MCCC2):c.1575-10C>T
|
rs1303395410
|
|
|
NM_022132.5(MCCC2):c.1575-15T>C
|
|
|
|
NM_022132.5(MCCC2):c.1575-15_1575-14del
|
|
|
|
NM_022132.5(MCCC2):c.1575-5G>T
|
rs924068629
|
|
|
NM_022132.5(MCCC2):c.1590_1591delinsTT (p.Ile531Phe)
|
rs2112478243
|
|
|
NM_022132.5(MCCC2):c.1601C>G (p.Pro534Arg)
|
|
|
|
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=)
|
rs2112478257
|
|
|
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=)
|
|
|
|
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=)
|
rs764970690
|
|
|
NM_022132.5(MCCC2):c.1631G>A (p.Ser544Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter)
|
rs768272570
|
|
|
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=)
|
|
|
|
NM_022132.5(MCCC2):c.1639G>A (p.Ala547Thr)
|
rs758806872
|
|
|
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=)
|
rs781648337
|
|
|
NM_022132.5(MCCC2):c.1651G>A (p.Ala551Thr)
|
|
|
|
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>A (p.Thr556Asn)
|
|
|
|
NM_022132.5(MCCC2):c.1667C>T (p.Thr556Ile)
|
rs1049171546
|
|
|
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=)
|
rs1200111967
|
|
|
NM_022132.5(MCCC2):c.1670A>C (p.Asp557Ala)
|
|
|
|
NM_022132.5(MCCC2):c.1672T>C (p.Phe558Leu)
|
rs2112478390
|
|
|
NM_022132.5(MCCC2):c.1674del (p.Phe558fs)
|
rs1747594910
|
|
|
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp)
|
|
|
|
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
|
|
|
|
NM_022132.5(MCCC2):c.175C>A (p.Arg59=)
|
|
|
|
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)
|
rs760881963
|
|
|
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)
|
rs752593298
|
|
|
NM_022132.5(MCCC2):c.183G>A (p.Glu61=)
|
|
|
|
NM_022132.5(MCCC2):c.185A>G (p.His62Arg)
|
rs1745040815
|
|
|
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter)
|
rs796051989
|
|
|
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA
|
|
|
|
NM_022132.5(MCCC2):c.196+19C>A
|
|
|
|
NM_022132.5(MCCC2):c.196+3A>G
|
rs751519858
|
|
|
NM_022132.5(MCCC2):c.197-7A>G
|
|
|
|
NM_022132.5(MCCC2):c.197-9C>G
|
rs2112293394
|
|
|
NM_022132.5(MCCC2):c.210A>G (p.Lys70=)
|
rs2112293469
|
|
|
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)
|
rs147903984
|
|
|
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
|
rs140027063
|
|
|
NM_022132.5(MCCC2):c.237A>G (p.Gly79=)
|
rs2112293709
|
|
|
NM_022132.5(MCCC2):c.244T>C (p.Leu82=)
|
rs2112293727
|
|
|
NM_022132.5(MCCC2):c.246G>A (p.Leu82=)
|
rs1427801007
|
|
|
NM_022132.5(MCCC2):c.248C>G (p.Pro83Arg)
|
rs1414470105
|
|
|
NM_022132.5(MCCC2):c.250A>G (p.Arg84Gly)
|
rs1745187009
|
|
|
NM_022132.5(MCCC2):c.252A>G (p.Arg84=)
|
rs1295786119
|
|
|
NM_022132.5(MCCC2):c.264C>T (p.Asp88=)
|
|
|
|
NM_022132.5(MCCC2):c.270C>G (p.Leu90=)
|
|
|
|
NM_022132.5(MCCC2):c.279A>T (p.Pro93=)
|
rs1554133471
|
|
|
NM_022132.5(MCCC2):c.281+10T>G
|
|
|
|
NM_022132.5(MCCC2):c.281+14C>T
|
|
|
|
NM_022132.5(MCCC2):c.281+1G>T
|
rs1580273474
|
|
|
NM_022132.5(MCCC2):c.282-15C>T
|
|
|
|
NM_022132.5(MCCC2):c.282-1G>C
|
|
|
|
NM_022132.5(MCCC2):c.282-9T>C
|
rs1464131809
|
|
|
NM_022132.5(MCCC2):c.282-9_285del
|
rs2112308599
|
|
|
NM_022132.5(MCCC2):c.286C>G (p.Pro96Ala)
|
rs770208071
|
|
|
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys)
|
rs119103219
|
|
|
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter)
|
rs2112308910
|
|
|
NM_022132.5(MCCC2):c.321G>A (p.Gln107=)
|
rs2112308941
|
|
|
NM_022132.5(MCCC2):c.324A>G (p.Leu108=)
|
rs2112308948
|
|
|
NM_022132.5(MCCC2):c.332A>G (p.Asn111Ser)
|
|
|
|
NM_022132.5(MCCC2):c.335AGG[1] (p.Glu113del)
|
|
|
|
NM_022132.5(MCCC2):c.342G>A (p.Val114=)
|
|
|
|
NM_022132.5(MCCC2):c.342del (p.Pro115fs)
|
rs2112309156
|
|
|
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)
|
rs758794885
|
|
|
NM_022132.5(MCCC2):c.354C>G (p.Gly118=)
|
|
|
|
NM_022132.5(MCCC2):c.365G>A (p.Gly122Asp)
|
|
|
|
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter)
|
rs398124372
|
|
|
NM_022132.5(MCCC2):c.384-10T>C
|
|
|
|
NM_022132.5(MCCC2):c.384-2A>G
|
rs1745476784
|
|
|
NM_022132.5(MCCC2):c.384-8C>G
|
rs2112319784
|
|
|
NM_022132.5(MCCC2):c.384-9G>A
|
rs2112319771
|
|
|
NM_022132.5(MCCC2):c.38C>G (p.Ala13Gly)
|
|
|
|
NM_022132.5(MCCC2):c.396G>A (p.Met132Ile)
|
|
|
|
NM_022132.5(MCCC2):c.416C>T (p.Thr139Ile)
|
|
|
|
NM_022132.5(MCCC2):c.422A>G (p.Lys141Arg)
|
|
|
|
NM_022132.5(MCCC2):c.423A>G (p.Lys141=)
|
|
|
|
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
|
rs1468231692
|
|
|
NM_022132.5(MCCC2):c.433T>G (p.Tyr145Asp)
|
rs1745481314
|
|
|
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=)
|
|
|
|
NM_022132.5(MCCC2):c.437A>G (p.Tyr146Cys)
|
rs2112320371
|
|
|
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr)
|
rs1554134065
|
|
|
NM_022132.5(MCCC2):c.457C>A (p.Gln153Lys)
|
|
|
|
NM_022132.5(MCCC2):c.45C>T (p.Ala15=)
|
|
|
|
NM_022132.5(MCCC2):c.467C>T (p.Ala156Val)
|
|
|
|
NM_022132.5(MCCC2):c.468C>T (p.Ala156=)
|
|
|
|
NM_022132.5(MCCC2):c.479C>G (p.Ala160Gly)
|
rs2112320728
|
|
|
NM_022132.5(MCCC2):c.489C>T (p.Asn163=)
|
rs774803841
|
|
|
NM_022132.5(MCCC2):c.504C>A (p.Ile168=)
|
|
|
|
NM_022132.5(MCCC2):c.511+10del
|
|
|
|
NM_022132.5(MCCC2):c.511+11A>C
|
|
|
|
NM_022132.5(MCCC2):c.511+13A>T
|
|
|
|
NM_022132.5(MCCC2):c.511+14G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+1G>A
|
rs1165990855
|
|
|
NM_022132.5(MCCC2):c.511+1G>T
|
|
|
|
NM_022132.5(MCCC2):c.511+20A>G
|
|
|
|
NM_022132.5(MCCC2):c.512-14T>A
|
rs765487963
|
|
|
NM_022132.5(MCCC2):c.512-19T>G
|
|
|
|
NM_022132.5(MCCC2):c.512-1G>A
|
rs1282502867
|
|
|
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)
|
rs587776533
|
|
|
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp)
|
rs752866557
|
|
|
NM_022132.5(MCCC2):c.519G>A (p.Ser173=)
|
|
|
|
NM_022132.5(MCCC2):c.528A>T (p.Ala176=)
|
rs753733837
|
|
|
NM_022132.5(MCCC2):c.529del (p.Tyr177fs)
|
|
|
|
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=)
|
|
|
|
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter)
|
rs2112328709
|
|
|
NM_022132.5(MCCC2):c.537T>A (p.Pro179=)
|
rs1275219211
|
|
|
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)
|
rs780011606
|
|
|
NM_022132.5(MCCC2):c.540A>G (p.Arg180=)
|
rs2112328806
|
|
|
NM_022132.5(MCCC2):c.544G>A (p.Ala182Thr)
|
|
|
|
NM_022132.5(MCCC2):c.54C>G (p.Ala18=)
|
rs747327321
|
|
|
NM_022132.5(MCCC2):c.54C>T (p.Ala18=)
|
|
|
|
NM_022132.5(MCCC2):c.552G>A (p.Val184=)
|
|
|
|
NM_022132.5(MCCC2):c.554T>C (p.Phe185Ser)
|
|
|
|
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal)
|
rs797044772
|
|
|
NM_022132.5(MCCC2):c.557del (p.Pro186fs)
|
rs1745582317
|
|
|
NM_022132.5(MCCC2):c.560A>G (p.Asp187Gly)
|
|
|
|
NM_022132.5(MCCC2):c.567C>A (p.Asp189Glu)
|
rs575600077
|
|
|
NM_022132.5(MCCC2):c.567C>T (p.Asp189=)
|
|
|
|
NM_022132.5(MCCC2):c.57G>C (p.Gly19=)
|
|
|
|
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
|
rs1190325113
|
|
|
NM_022132.5(MCCC2):c.583T>C (p.Phe195Leu)
|
|
|
|
NM_022132.5(MCCC2):c.586T>C (p.Tyr196His)
|
rs2112329234
|
|
|
NM_022132.5(MCCC2):c.598A>G (p.Ile200Val)
|
rs2112329325
|
|
|
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs)
|
|
|
|
NM_022132.5(MCCC2):c.60G>C (p.Pro20=)
|
|
|
|
NM_022132.5(MCCC2):c.617T>C (p.Ile206Thr)
|
rs1745586663
|
|
|
NM_022132.5(MCCC2):c.618T>C (p.Ile206=)
|
rs2112329401
|
|
|
NM_022132.5(MCCC2):c.619G>T (p.Ala207Ser)
|
rs2112329415
|
|
|
NM_022132.5(MCCC2):c.624+10C>A
|
rs2112329449
|
|
|
NM_022132.5(MCCC2):c.624+15A>C
|
|
|
|
NM_022132.5(MCCC2):c.624+15A>G
|
|
|
|
NM_022132.5(MCCC2):c.625-15G>A
|
|
|
|
NM_022132.5(MCCC2):c.625-18C>T
|
|
|
|
NM_022132.5(MCCC2):c.625-19T>C
|
|
|
|
NM_022132.5(MCCC2):c.630A>C (p.Ala210=)
|
|
|
|
NM_022132.5(MCCC2):c.630A>G (p.Ala210=)
|
rs760020328
|
|
|
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
|
|
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
|
NM_022132.5(MCCC2):c.652G>T (p.Ala218Ser)
|
|
|
|
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
|
|
|
|
NM_022132.5(MCCC2):c.663C>A (p.Ala221=)
|
|
|
|
NM_022132.5(MCCC2):c.663C>T (p.Ala221=)
|
rs978623277
|
|
|
NM_022132.5(MCCC2):c.663del (p.Tyr222fs)
|
|
|
|
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr)
|
|
|
|
NM_022132.5(MCCC2):c.672T>C (p.Pro224=)
|
rs1337800475
|
|
|
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)
|
rs766753795
|
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
|
NM_022132.5(MCCC2):c.68A>C (p.Tyr23Ser)
|
|
|
|
NM_022132.5(MCCC2):c.68A>G (p.Tyr23Cys)
|
|
|
|
NM_022132.5(MCCC2):c.690C>T (p.Asn230=)
|
|
|
|
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met)
|
rs991996366
|
|
|
NM_022132.5(MCCC2):c.699A>G (p.Val233=)
|
rs2112412515
|
|
|
NM_022132.5(MCCC2):c.69del (p.His24fs)
|
|
|
|
NM_022132.5(MCCC2):c.703A>G (p.Lys235Glu)
|
|
|
|
NM_022132.5(MCCC2):c.708G>A (p.Gln236=)
|
rs2112412564
|
|
|
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg)
|
rs781559418
|
|
|
NM_022132.5(MCCC2):c.714C>T (p.Thr238=)
|
rs200849501
|
|
|
NM_022132.5(MCCC2):c.720C>T (p.Phe240=)
|
|
|
|
NM_022132.5(MCCC2):c.726A>G (p.Ala242=)
|
rs2112412678
|
|
|
NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)
|
rs770351523
|
|
|
NM_022132.5(MCCC2):c.729A>C (p.Gly243=)
|
rs535377555
|
|
|
NM_022132.5(MCCC2):c.735del (p.Leu246fs)
|
|
|
|
NM_022132.5(MCCC2):c.735dup (p.Val247fs)
|
rs770769655
|
|
|
NM_022132.5(MCCC2):c.738+11A>G
|
|
|
|
NM_022132.5(MCCC2):c.738+17G>A
|
|
|
|
NM_022132.5(MCCC2):c.738+2T>G
|
|
|
|
NM_022132.5(MCCC2):c.738+2dup
|
rs2112412775
|
|
|
NM_022132.5(MCCC2):c.738+6A>G
|
|
|
|
NM_022132.5(MCCC2):c.738+8C>A
|
rs1746541390
|
|
|
NM_022132.5(MCCC2):c.739-11C>T
|
|
|
|
NM_022132.5(MCCC2):c.739-2A>G
|
rs2112427637
|
|
|
NM_022132.5(MCCC2):c.739-4G>T
|
|
|
|
NM_022132.5(MCCC2):c.739-7G>C
|
rs765082065
|
|
|
NM_022132.5(MCCC2):c.739-8T>C
|
|
|
|
NM_022132.5(MCCC2):c.739-9T>C
|
|
|
|
NM_022132.5(MCCC2):c.739del
|
rs1463802125
|
|
|
NM_022132.5(MCCC2):c.747G>A (p.Ala249=)
|
|
|
|
NM_022132.5(MCCC2):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_022132.5(MCCC2):c.753T>G (p.Thr251=)
|
|
|
|
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs)
|
|
|
|
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
|
|
|
|
NM_022132.5(MCCC2):c.765A>G (p.Val255=)
|
rs1405840387
|
|
|
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs)
|
rs2112251301
|
|
|
NM_022132.5(MCCC2):c.786T>G (p.Gly262=)
|
rs1041557611
|
|
|
NM_022132.5(MCCC2):c.789del (p.Asp264fs)
|
|
|
|
NM_022132.5(MCCC2):c.793C>G (p.Leu265Val)
|
|
|
|
NM_022132.5(MCCC2):c.794T>C (p.Leu265Pro)
|
rs1746740255
|
|
|
NM_022132.5(MCCC2):c.795T>G (p.Leu265=)
|
|
|
|
NM_022132.5(MCCC2):c.802A>G (p.Arg268Gly)
|
rs756477001
|
|
|
NM_022132.5(MCCC2):c.803+12A>C
|
|
|
|
NM_022132.5(MCCC2):c.803+13T>C
|
|
|
|
NM_022132.5(MCCC2):c.803+14G>T
|
|
|
|
NM_022132.5(MCCC2):c.803+6A>G
|
|
|
|
NM_022132.5(MCCC2):c.803+7C>T
|
rs1561840847
|
|
|
NM_022132.5(MCCC2):c.803+9_803+10del
|
rs1561840849
|
|
|
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)
|
rs119103223
|
|
|
NM_022132.5(MCCC2):c.804-4G>A
|
|
|
|
NM_022132.5(MCCC2):c.811G>A (p.Gly271Arg)
|
rs2112437351
|
|
|
NM_022132.5(MCCC2):c.822C>T (p.Asp274=)
|
rs2112437391
|
|
|
NM_022132.5(MCCC2):c.823del (p.His275fs)
|
rs2112437401
|
|
|
NM_022132.5(MCCC2):c.861T>A (p.Thr287=)
|
|
|
|
NM_022132.5(MCCC2):c.861T>C (p.Thr287=)
|
rs1171847854
|
|
|
NM_022132.5(MCCC2):c.861T>G (p.Thr287=)
|
|
|
|
NM_022132.5(MCCC2):c.876G>A (p.Arg292=)
|
|
|
|
NM_022132.5(MCCC2):c.879T>C (p.Asn293=)
|
rs753100774
|
|
|
NM_022132.5(MCCC2):c.882A>G (p.Leu294=)
|
|
|
|
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=)
|
|
|
|
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
|
rs1580319814
|
|
|
NM_022132.5(MCCC2):c.898T>C (p.Leu300=)
|
rs1746869158
|
|
|
NM_022132.5(MCCC2):c.903+13T>C
|
|
|
|
NM_022132.5(MCCC2):c.903+1G>T
|
rs2112437820
|
|
|
NM_022132.5(MCCC2):c.903+20A>T
|
|
|
|
NM_022132.5(MCCC2):c.903+2T>G
|
|
|
|
NM_022132.5(MCCC2):c.903+4A>T
|
|
|
|
NM_022132.5(MCCC2):c.904-10A>G
|
rs1746872931
|
|
|
NM_022132.5(MCCC2):c.904-15T>C
|
|
|
|
NM_022132.5(MCCC2):c.904-16A>G
|
|
|
|
NM_022132.5(MCCC2):c.904-19A>G
|
|
|
|
NM_022132.5(MCCC2):c.904-2A>T
|
|
|
|
NM_022132.5(MCCC2):c.90G>A (p.Ser30=)
|
rs559384926
|
|
|
NM_022132.5(MCCC2):c.90G>C (p.Ser30=)
|
rs559384926
|
|
|
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)
|
rs119103221
|
|
|
NM_022132.5(MCCC2):c.945T>C (p.Asp315=)
|
|
|
|
NM_022132.5(MCCC2):c.948A>G (p.Glu316=)
|
|
|
|
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
|
rs1443551700
|
|
|
NM_022132.5(MCCC2):c.960A>C (p.Ile320=)
|
rs1746875605
|
|
|
NM_022132.5(MCCC2):c.962T>C (p.Val321Ala)
|
|
|
|
NM_022132.5(MCCC2):c.966T>G (p.Gly322=)
|
|
|
|
NM_022132.5(MCCC2):c.96C>T (p.Gly32=)
|
|
|
|
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs)
|
rs2112438432
|
|
|
NM_022132.5(MCCC2):c.973C>T (p.Leu325Phe)
|
rs2112438464
|
|
|
NM_022132.5(MCCC2):c.986T>C (p.Phe329Ser)
|
rs2112438533
|
|
|
NM_022132.5(MCCC2):c.987T>C (p.Phe329=)
|
rs2112438541
|
|
|
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter)
|
rs1554137532
|
|
|
NM_022132.5(MCCC2):c.98C>T (p.Thr33Ile)
|
rs2112251506
|
|
|
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp)
|
rs1487531101
|
|
|
NM_022132.5(MCCC2):c.9C>A (p.Ala3=)
|
|
|
|
NM_025136.4(OPA3):c.103G>T (p.Glu35Ter)
|
|
|
|
NM_025136.4(OPA3):c.111C>T (p.Phe37=)
|
|
|
|
NM_025136.4(OPA3):c.115A>G (p.Thr39Ala)
|
|
|
|
NM_025136.4(OPA3):c.117C>T (p.Thr39=)
|
|
|
|
NM_025136.4(OPA3):c.121A>G (p.Ile41Val)
|
|
|
|
NM_025136.4(OPA3):c.123C>T (p.Ile41=)
|
|
|
|
NM_025136.4(OPA3):c.127C>G (p.Leu43Val)
|
rs2122529195
|
|
|
NM_025136.4(OPA3):c.12C>T (p.Gly4=)
|
|
|
|
NM_025136.4(OPA3):c.131C>T (p.Pro44Leu)
|
rs2122529178
|
|
|
NM_025136.4(OPA3):c.132G>C (p.Pro44=)
|
|
|
|
NM_025136.4(OPA3):c.135G>A (p.Pro45=)
|
rs553414785
|
|
|
NM_025136.4(OPA3):c.135G>C (p.Pro45=)
|
|
|
|
NM_025136.4(OPA3):c.136G>A (p.Ala46Thr)
|
|
|
|
NM_025136.4(OPA3):c.142+10A>C
|
rs539476253
|
|
|
NM_025136.4(OPA3):c.142+11C>T
|
|
|
|
NM_025136.4(OPA3):c.142+12C>A
|
|
|
|
NM_025136.4(OPA3):c.142+13C>A
|
|
|
|
NM_025136.4(OPA3):c.142+13C>G
|
|
|
|
NM_025136.4(OPA3):c.142+13C>T
|
|
|
|
NM_025136.4(OPA3):c.142+17T>A
|
|
|
|
NM_025136.4(OPA3):c.142+18T>C
|
rs1969904773
|
|
|
NM_025136.4(OPA3):c.142+20C>T
|
|
|
|
NM_025136.4(OPA3):c.142+2_142+3dup
|
rs1555736791
|
|
|
NM_025136.4(OPA3):c.142+3_142+6del
|
|
|
|
NM_025136.4(OPA3):c.142+4A>T
|
rs765495449
|
|
|
NM_025136.4(OPA3):c.142+5G>C
|
rs1250409781
|
|
|
NM_025136.4(OPA3):c.142+9G>A
|
|
|
|
NM_025136.4(OPA3):c.142+9G>C
|
|
|
|
NM_025136.4(OPA3):c.143-12C>G
|
|
|
|
NM_025136.4(OPA3):c.143-12C>T
|
|
|
|
NM_025136.4(OPA3):c.143-13T>G
|
rs1278896715
|
|
|
NM_025136.4(OPA3):c.143-16C>A
|
|
|
|
NM_025136.4(OPA3):c.143-16C>G
|
|
|
|
NM_025136.4(OPA3):c.143-16CT[2]
|
|
|
|
NM_025136.4(OPA3):c.143-17C>T
|
|
|
|
NM_025136.4(OPA3):c.143-1G>A
|
|
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
|
NM_025136.4(OPA3):c.143-2_143-1delinsCC
|
rs1969382362
|
|
|
NM_025136.4(OPA3):c.143-4G>T
|
|
|
|
NM_025136.4(OPA3):c.143-5C>T
|
rs770452409
|
|
|
NM_025136.4(OPA3):c.143-5dup
|
|
|
|
NM_025136.4(OPA3):c.143-8C>T
|
rs1315898626
|
|
|
NM_025136.4(OPA3):c.143-9C>A
|
|
|
|
NM_025136.4(OPA3):c.144G>A (p.Leu48=)
|
rs2122440942
|
|
|
NM_025136.4(OPA3):c.145T>C (p.Tyr49His)
|
rs1384629048
|
|
|
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
|
|
|
|
NM_025136.4(OPA3):c.15G>A (p.Ala5=)
|
|
|
|
NM_025136.4(OPA3):c.165G>T (p.Arg55=)
|
|
|
|
NM_025136.4(OPA3):c.168C>T (p.Thr56=)
|
|
|
|
NM_025136.4(OPA3):c.170A>G (p.Lys57Arg)
|
|
|
|
NM_025136.4(OPA3):c.17T>C (p.Phe6Ser)
|
rs2122529643
|
|
|
NM_025136.4(OPA3):c.182T>C (p.Met61Thr)
|
rs1052079541
|
|
|
NM_025136.4(OPA3):c.18C>T (p.Phe6=)
|
|
|
|
NM_025136.4(OPA3):c.195C>A (p.Gly65=)
|
|
|
|
NM_025136.4(OPA3):c.198G>A (p.Thr66=)
|
|
|
|
NM_025136.4(OPA3):c.1A>G (p.Met1Val)
|
rs1230629432
|
|
|
NM_025136.4(OPA3):c.201C>T (p.Val67=)
|
rs539986269
|
|
|
NM_025136.4(OPA3):c.201del (p.Ile68fs)
|
|
|
|
NM_025136.4(OPA3):c.204C>A (p.Ile68=)
|
|
|
|
NM_025136.4(OPA3):c.206A>C (p.Lys69Thr)
|
rs760083523
|
|
|
NM_025136.4(OPA3):c.206_258del (p.Lys69fs)
|
rs2122440115
|
|
|
NM_025136.4(OPA3):c.210G>A (p.Pro70=)
|
|
|
|
NM_025136.4(OPA3):c.212T>C (p.Leu71Pro)
|
|
|
|
NM_025136.4(OPA3):c.213G>A (p.Leu71=)
|
rs1258779986
|
|
|
NM_025136.4(OPA3):c.216C>T (p.Asn72=)
|
rs772750356
|
|
|
NM_025136.4(OPA3):c.217dup (p.Glu73fs)
|
rs1555732963
|
|
|
NM_025136.4(OPA3):c.21T>A (p.Pro7=)
|
|
|
|
NM_025136.4(OPA3):c.220G>A (p.Glu74Lys)
|
|
|
|
NM_025136.4(OPA3):c.220G>T (p.Glu74Ter)
|
|
|
|
NM_025136.4(OPA3):c.225G>A (p.Ala75=)
|
|
|
|
NM_025136.4(OPA3):c.226G>T (p.Ala76Ser)
|
|
|
|
NM_025136.4(OPA3):c.228A>T (p.Ala76=)
|
|
|
|
NM_025136.4(OPA3):c.235C>T (p.Leu79=)
|
rs886037828
|
|
|
NM_025136.4(OPA3):c.237G>A (p.Leu79=)
|
rs943536843
|
|
|
NM_025136.4(OPA3):c.237G>T (p.Leu79=)
|
|
|
|
NM_025136.4(OPA3):c.238G>A (p.Gly80Ser)
|
|
|
|
NM_025136.4(OPA3):c.239G>T (p.Gly80Val)
|
rs2122440257
|
|
|
NM_025136.4(OPA3):c.23T>C (p.Met8Thr)
|
|
|
|
NM_025136.4(OPA3):c.240C>T (p.Gly80=)
|
|
|
|
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
|
|
|
|
NM_025136.4(OPA3):c.246G>A (p.Glu82=)
|
rs1599964759
|
|
|
NM_025136.4(OPA3):c.247C>T (p.Leu83=)
|
|
|
|
NM_025136.4(OPA3):c.24G>A (p.Met8Ile)
|
|
|
|
NM_025136.4(OPA3):c.250C>T (p.Leu84=)
|
|
|
|
NM_025136.4(OPA3):c.252G>T (p.Leu84=)
|
|
|
|
NM_025136.4(OPA3):c.253G>C (p.Gly85Arg)
|
|
|
|
NM_025136.4(OPA3):c.254G>A (p.Gly85Asp)
|
rs1599964721
|
|
|
NM_025136.4(OPA3):c.255C>G (p.Gly85=)
|
rs951025429
|
|
|
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys)
|
|
|
|
NM_025136.4(OPA3):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_025136.4(OPA3):c.265A>G (p.Ile89Val)
|
|
|
|
NM_025136.4(OPA3):c.273C>T (p.Ile91=)
|
rs369545089
|
|
|
NM_025136.4(OPA3):c.274G>A (p.Val92Met)
|
rs752893027
|
|
|
NM_025136.4(OPA3):c.275T>C (p.Val92Ala)
|
|
|
|
NM_025136.4(OPA3):c.279C>T (p.Gly93=)
|
rs1165747962
|
|
|
NM_025136.4(OPA3):c.27G>A (p.Ala9=)
|
|
|
|
NM_025136.4(OPA3):c.282C>A (p.Gly94=)
|
|
|
|
NM_025136.4(OPA3):c.282C>T (p.Gly94=)
|
rs1478895044
|
|
|
NM_025136.4(OPA3):c.288C>T (p.Cys96=)
|
|
|
|
NM_025136.4(OPA3):c.289C>G (p.Leu97Val)
|
|
|
|
NM_025136.4(OPA3):c.289C>T (p.Leu97=)
|
rs755295420
|
|
|
NM_025136.4(OPA3):c.291A>G (p.Leu97=)
|
rs755689286
|
|
|
NM_025136.4(OPA3):c.293T>G (p.Val98Gly)
|
rs967310075
|
|
|
NM_025136.4(OPA3):c.296T>G (p.Leu99Arg)
|
rs1555732924
|
|
|
NM_025136.4(OPA3):c.304T>G (p.Trp102Gly)
|
|
|
|
NM_025136.4(OPA3):c.30G>A (p.Lys10=)
|
rs1131692018
|
|
|
NM_025136.4(OPA3):c.30G>C (p.Lys10Asn)
|
|
|
|
NM_025136.4(OPA3):c.313C>A (p.Gln105Lys)
|
rs80356525
|
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
|
NM_025136.4(OPA3):c.313C>T (p.Gln105Ter)
|
|
|
|
NM_025136.4(OPA3):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_025136.4(OPA3):c.317C>T (p.Ala106Val)
|
rs764633370
|
|
|
NM_025136.4(OPA3):c.318G>T (p.Ala106=)
|
rs867188673
|
|
|
NM_025136.4(OPA3):c.327C>G (p.Arg109=)
|
rs2122439641
|
|
|
NM_025136.4(OPA3):c.337G>A (p.Glu113Lys)
|
|
|
|
NM_025136.4(OPA3):c.33G>A (p.Leu11=)
|
rs148805518
|
|
|
NM_025136.4(OPA3):c.342G>A (p.Glu114=)
|
|
|
|
NM_025136.4(OPA3):c.34C>G (p.Leu12Val)
|
|
|
|
NM_025136.4(OPA3):c.352G>C (p.Ala118Pro)
|
|
|
|
NM_025136.4(OPA3):c.360C>A (p.Asn120Lys)
|
|
|
|
NM_025136.4(OPA3):c.360C>T (p.Asn120=)
|
|
|
|
NM_025136.4(OPA3):c.362C>T (p.Ala121Val)
|
|
|
|
NM_025136.4(OPA3):c.363G>A (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.363G>C (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.363G>T (p.Ala121=)
|
rs1371810069
|
|
|
NM_025136.4(OPA3):c.364C>T (p.Leu122=)
|
|
|
|
NM_025136.4(OPA3):c.367C>A (p.Arg123=)
|
rs1022155897
|
|
|
NM_025136.4(OPA3):c.368_369delinsCT (p.Arg123Pro)
|
|
|
|
NM_025136.4(OPA3):c.373G>C (p.Glu125Gln)
|
|
|
|
NM_025136.4(OPA3):c.374A>T (p.Glu125Val)
|
|
|
|
NM_025136.4(OPA3):c.380G>A (p.Gly127Asp)
|
|
|
|
NM_025136.4(OPA3):c.383_385dup (p.His128_Leu129insHis)
|
|
|
|
NM_025136.4(OPA3):c.390G>A (p.Ala130=)
|
rs2122439205
|
|
|
NM_025136.4(OPA3):c.392T>A (p.Leu131Gln)
|
|
|
|
NM_025136.4(OPA3):c.393G>A (p.Leu131=)
|
|
|
|
NM_025136.4(OPA3):c.395C>A (p.Ala132Glu)
|
rs758982194
|
|
|
NM_025136.4(OPA3):c.395C>T (p.Ala132Val)
|
|
|
|
NM_025136.4(OPA3):c.397C>T (p.Leu133=)
|
rs2122439146
|
|
|
NM_025136.4(OPA3):c.405G>A (p.Ala135=)
|
rs750848548
|
|
|
NM_025136.4(OPA3):c.40T>C (p.Leu14=)
|
rs2122529532
|
|
|
NM_025136.4(OPA3):c.40T>G (p.Leu14Val)
|
|
|
|
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro)
|
rs372161100
|
|
|
NM_025136.4(OPA3):c.414G>A (p.Ala138=)
|
rs1969373306
|
|
|
NM_025136.4(OPA3):c.414G>T (p.Ala138=)
|
|
|
|
NM_025136.4(OPA3):c.417G>A (p.Gln139=)
|
rs2122438987
|
|
|
NM_025136.4(OPA3):c.417G>C (p.Gln139His)
|
|
|
|
NM_025136.4(OPA3):c.423_424delinsCT (p.Gln141_Ala142delinsHisSer)
|
|
|
|
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro)
|
rs535683352
|
|
|
NM_025136.4(OPA3):c.425C>T (p.Ala142Val)
|
rs2122438899
|
|
|
NM_025136.4(OPA3):c.427G>C (p.Ala143Pro)
|
|
|
|
NM_025136.4(OPA3):c.429G>A (p.Ala143=)
|
rs745373208
|
|
|
NM_025136.4(OPA3):c.429_430delinsAA (p.Pro144Thr)
|
|
|
|
NM_025136.4(OPA3):c.431C>A (p.Pro144Gln)
|
rs775398472
|
|
|
NM_025136.4(OPA3):c.431C>G (p.Pro144Arg)
|
|
|
|
NM_025136.4(OPA3):c.433C>T (p.Pro145Ser)
|
|
|
|
NM_025136.4(OPA3):c.434C>T (p.Pro145Leu)
|
|
|
|
NM_025136.4(OPA3):c.435A>G (p.Pro145=)
|
|
|
|
NM_025136.4(OPA3):c.436C>A (p.Gln146Lys)
|
|
|
|
NM_025136.4(OPA3):c.437A>G (p.Gln146Arg)
|
|
|
|
NM_025136.4(OPA3):c.439_440del (p.Gly147fs)
|
|
|
|
NM_025136.4(OPA3):c.444C>G (p.Ala148=)
|
rs759536853
|
|
|
NM_025136.4(OPA3):c.445C>T (p.Leu149=)
|
rs1057523113
|
|
|
NM_025136.4(OPA3):c.448G>C (p.Glu150Gln)
|
|
|
|
NM_025136.4(OPA3):c.455T>C (p.Leu152Pro)
|
|
|
|
NM_025136.4(OPA3):c.456G>A (p.Leu152=)
|
|
|
|
NM_025136.4(OPA3):c.456G>T (p.Leu152=)
|
|
|
|
NM_025136.4(OPA3):c.458G>T (p.Arg153Leu)
|
|
|
|
NM_025136.4(OPA3):c.45C>T (p.Gly15=)
|
|
|
|
NM_025136.4(OPA3):c.462A>C (p.Thr154=)
|
rs2122438569
|
|
|
NM_025136.4(OPA3):c.462A>G (p.Thr154=)
|
|
|
|
NM_025136.4(OPA3):c.468G>C (p.Leu156=)
|
rs2122438534
|
|
|
NM_025136.4(OPA3):c.469C>G (p.Gln157Glu)
|
|
|
|
NM_025136.4(OPA3):c.471A>G (p.Gln157=)
|
|
|
|
NM_025136.4(OPA3):c.472G>A (p.Glu158Lys)
|
|
|
|
NM_025136.4(OPA3):c.474G>A (p.Glu158=)
|
rs1969371102
|
|
|
NM_025136.4(OPA3):c.477G>C (p.Val159=)
|
|
|
|
NM_025136.4(OPA3):c.477G>T (p.Val159=)
|
|
|
|
NM_025136.4(OPA3):c.483C>G (p.Ala161=)
|
rs2122438328
|
|
|
NM_025136.4(OPA3):c.484C>G (p.Gln162Glu)
|
|
|
|
NM_025136.4(OPA3):c.484C>T (p.Gln162Ter)
|
|
|
|
NM_025136.4(OPA3):c.489C>T (p.Leu163=)
|
|
|
|
NM_025136.4(OPA3):c.494A>G (p.Asn165Ser)
|
|
|
|
NM_025136.4(OPA3):c.501C>T (p.Gly167=)
|
|
|
|
NM_025136.4(OPA3):c.502C>T (p.Arg168Trp)
|
rs750946088
|
|
|
NM_025136.4(OPA3):c.504G>A (p.Arg168=)
|
|
|
|
NM_025136.4(OPA3):c.504G>T (p.Arg168=)
|
|
|
|
NM_025136.4(OPA3):c.507C>G (p.Ser169=)
|
rs757829968
|
|
|
NM_025136.4(OPA3):c.513C>T (p.Ser171=)
|
|
|
|
NM_025136.4(OPA3):c.514C>T (p.His172Tyr)
|
rs1293731096
|
|
|
NM_025136.4(OPA3):c.516C>T (p.His172=)
|
rs1427115632
|
|
|
NM_025136.4(OPA3):c.517G>A (p.Ala173Thr)
|
|
|
|
NM_025136.4(OPA3):c.522G>A (p.Val174=)
|
rs1969369481
|
|
|
NM_025136.4(OPA3):c.531C>T (p.Ser177=)
|
rs2122437966
|
|
|
NM_025136.4(OPA3):c.532A>G (p.Lys178Glu)
|
rs767372876
|
|
|
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)
|
rs1343690502
|
|
|
NM_025136.4(OPA3):c.57C>T (p.Val19=)
|
rs1600010212
|
|
|
NM_025136.4(OPA3):c.66G>T (p.Pro22=)
|
rs1969906893
|
|
|
NM_025136.4(OPA3):c.6G>A (p.Val2=)
|
rs2122529689
|
|
|
NM_025136.4(OPA3):c.6G>C (p.Val2=)
|
rs2122529689
|
|
|
NM_025136.4(OPA3):c.72C>T (p.Ala24=)
|
rs1305459152
|
|
|
NM_025136.4(OPA3):c.73A>G (p.Asn25Asp)
|
|
|
|
NM_025136.4(OPA3):c.75C>T (p.Asn25=)
|
rs2122529407
|
|
|
NM_025136.4(OPA3):c.77G>T (p.Arg26Leu)
|
rs1302916174
|
|
|
NM_025136.4(OPA3):c.7G>C (p.Val3Leu)
|
|
|
|
NM_025136.4(OPA3):c.81del (p.Lys28fs)
|
|
|
|
NM_025136.4(OPA3):c.84G>A (p.Lys28=)
|
|
|
|
NM_025136.4(OPA3):c.87G>T (p.Glu29Asp)
|
rs1194417590
|
|
|
NM_025136.4(OPA3):c.89C>T (p.Ala30Val)
|
|
|
|
NM_025136.4(OPA3):c.90C>A (p.Ala30=)
|
rs1600010139
|
|
|
NM_025136.4(OPA3):c.91G>C (p.Ala31Pro)
|
|
|
|
NM_025136.4(OPA3):c.94C>T (p.Arg32Cys)
|
|
|
|
NM_025136.4(OPA3):c.99A>G (p.Arg33=)
|
|
|
|
NM_030813.6(CLPB):c.651G>C (p.Gly217=)
|
|
|
|
NM_030813.6(CLPB):c.654dup (p.Gln219fs)
|
rs1951072912
|
|
|
NM_030813.6(CLPB):c.666A>C (p.Ala222=)
|
|
|
|
NM_030813.6(CLPB):c.675C>A (p.His225Gln)
|
rs2135658006
|
|
|
NM_030813.6(CLPB):c.675C>T (p.His225=)
|
|
|
|
NM_030813.6(CLPB):c.693A>C (p.Thr231=)
|
|
|
|
NM_030813.6(CLPB):c.705G>A (p.Glu235=)
|
rs2135657829
|
|
|
NM_030813.6(CLPB):c.729C>T (p.Pro243=)
|
|
|
|
NM_030813.6(CLPB):c.736G>A (p.Val246Ile)
|
|
|
|
NM_032316.3(NICN1):c.*2359_*2468del
|
rs2049123051
|
|
|
NM_032601.4(MCEE):c.117A>G (p.Thr39=)
|
rs1673176800
|
|
|
NM_032601.4(MCEE):c.133C>T (p.Leu45=)
|
|
|
|
NM_032601.4(MCEE):c.140G>A (p.Arg47Gln)
|
rs377624743
|
|
|
NM_032601.4(MCEE):c.140G>T (p.Arg47Leu)
|
rs377624743
|
|
|
NM_032601.4(MCEE):c.159A>C (p.Ile53=)
|
|
|
|
NM_032601.4(MCEE):c.18G>A (p.Lys6=)
|
|
|
|
NM_032601.4(MCEE):c.19dup (p.Ala7fs)
|
|
|
|
NM_032601.4(MCEE):c.205C>T (p.Leu69=)
|
|
|
|
NM_032601.4(MCEE):c.210G>A (p.Gly70=)
|
|
|
|
NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)
|
rs1673171875
|
|
|
NM_032601.4(MCEE):c.228G>A (p.Ala76=)
|
|
|
|
NM_032601.4(MCEE):c.24A>C (p.Ala8=)
|
|
|
|
NM_032601.4(MCEE):c.269A>G (p.Asn90Ser)
|
|
|
|
NM_032601.4(MCEE):c.27C>A (p.Ala9=)
|
|
|
|
NM_032601.4(MCEE):c.27C>T (p.Ala9=)
|
|
|
|
NM_032601.4(MCEE):c.282C>T (p.Thr94=)
|
|
|
|
NM_032601.4(MCEE):c.291A>G (p.Glu97=)
|
|
|
|
NM_032601.4(MCEE):c.303A>T (p.Pro101=)
|
|
|
|
NM_032601.4(MCEE):c.30G>A (p.Ala10=)
|
|
|
|
NM_032601.4(MCEE):c.311G>A (p.Arg104His)
|
rs6748672
|
|
|
NM_032601.4(MCEE):c.321A>G (p.Pro107=)
|
|
|
|
NM_032601.4(MCEE):c.327A>T (p.Ala109=)
|
rs1572891311
|
|
|
NM_032601.4(MCEE):c.354A>T (p.Gly118=)
|
|
|
|
NM_032601.4(MCEE):c.369C>T (p.Ile123=)
|
|
|
|
NM_032601.4(MCEE):c.36C>T (p.Ala12=)
|
|
|
|
NM_032601.4(MCEE):c.375_378+4del
|
|
|
|
NM_032601.4(MCEE):c.378+11_378+19del
|
|
|
|
NM_032601.4(MCEE):c.378+15T>G
|
|
|
|
NM_032601.4(MCEE):c.378+19T>C
|
|
|
|
NM_032601.4(MCEE):c.378+20G>T
|
|
|
|
NM_032601.4(MCEE):c.379-19T>C
|
|
|
|
NM_032601.4(MCEE):c.379-5T>G
|
|
|
|
NM_032601.4(MCEE):c.379-644A>G
|
|
|
|
NM_032601.4(MCEE):c.381G>C (p.Val127=)
|
rs1327966561
|
|
|
NM_032601.4(MCEE):c.38T>C (p.Val13Ala)
|
|
|
|
NM_032601.4(MCEE):c.393T>C (p.Asn131=)
|
|
|
|
NM_032601.4(MCEE):c.3G>A (p.Met1Ile)
|
rs1558750455
|
|
|
NM_032601.4(MCEE):c.40+13C>A
|
|
|
|
NM_032601.4(MCEE):c.40+17G>A
|
|
|
|
NM_032601.4(MCEE):c.40+1G>T
|
|
|
|
NM_032601.4(MCEE):c.40+8C>G
|
|
|
|
NM_032601.4(MCEE):c.400G>A (p.Val134Met)
|
|
|
|
NM_032601.4(MCEE):c.41-20A>G
|
|
|
|
NM_032601.4(MCEE):c.41-9A>G
|
rs1673178812
|
|
|
NM_032601.4(MCEE):c.425T>A (p.Ile142Asn)
|
|
|
|
NM_032601.4(MCEE):c.459A>C (p.Ala153=)
|
|
|
|
NM_032601.4(MCEE):c.462T>C (p.His154=)
|
|
|
|
NM_032601.4(MCEE):c.466A>G (p.Lys156Glu)
|
rs368609786
|
|
|
NM_032601.4(MCEE):c.474G>A (p.Val158=)
|
|
|
|
NM_032601.4(MCEE):c.474G>T (p.Val158=)
|
|
|
|
NM_032601.4(MCEE):c.483C>G (p.Leu161=)
|
|
|
|
NM_032601.4(MCEE):c.49dup (p.Ser17fs)
|
|
|
|
NM_032601.4(MCEE):c.501T>C (p.Gly167=)
|
|
|
|
NM_032601.4(MCEE):c.507C>G (p.Val169=)
|
|
|
|
NM_032601.4(MCEE):c.517C>T (p.Leu173=)
|
|
|
|
NM_032601.4(MCEE):c.66C>G (p.Pro22=)
|
|
|
|
NM_032601.4(MCEE):c.78A>G (p.Val26=)
|
|
|
|
NM_032601.4(MCEE):c.84T>G (p.Ala28=)
|
|
|
|
NM_032601.4(MCEE):c.93A>C (p.Thr31=)
|
|
|
|
NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)
|
|
|
|
NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)
|
|
|
|
NM_032861.4(SERAC1):c.1016-31_1016-17del
|
rs374730949
|
|
|
NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)
|
|
|
|
NM_032861.4(SERAC1):c.1166+15G>A
|
|
|
|
NM_032861.4(SERAC1):c.1166+8del
|
rs766776726
|
|
|
NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)
|
|
|
|
NM_032861.4(SERAC1):c.1167-15T>C
|
|
|
|
NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)
|
|
|
|
NM_032861.4(SERAC1):c.1182A>G (p.Ala394=)
|
rs2128412053
|
|
|
NM_032861.4(SERAC1):c.118C>T (p.Leu40Phe)
|
|
|
|
NM_032861.4(SERAC1):c.1195A>G (p.Ile399Val)
|
|
|
|
NM_032861.4(SERAC1):c.1203C>A (p.Gly401=)
|
|
|
|
NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)
|
|
|
|
NM_032861.4(SERAC1):c.1266dup (p.Pro423fs)
|
|
|
|
NM_032861.4(SERAC1):c.1272G>A (p.Met424Ile)
|
|
|
|
NM_032861.4(SERAC1):c.128+7C>T
|
|
|
|
NM_032861.4(SERAC1):c.1308+6G>A
|
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|
|
NM_032861.4(SERAC1):c.1309-18A>G
|
|
|
|
NM_032861.4(SERAC1):c.1309-18_1309-17del
|
rs780332152
|
|
|
NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)
|
|
|
|
NM_032861.4(SERAC1):c.1334C>A (p.Ala445Asp)
|
rs553879407
|
|
|
NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)
|
|
|
|
NM_032861.4(SERAC1):c.1347_1350dup (p.Val451fs)
|
rs780275814
|
|
|
NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)
|
|
|
|
NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)
|
|
|
|
NM_032861.4(SERAC1):c.1364C>G (p.Thr455Ser)
|
rs767870142
|
|
|
NM_032861.4(SERAC1):c.1365C>T (p.Thr455=)
|
|
|
|
NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)
|
|
|
|
NM_032861.4(SERAC1):c.1375G>A (p.Asp459Asn)
|
rs189064007
|
|
|
NM_032861.4(SERAC1):c.138A>G (p.Leu46=)
|
rs777425675
|
|
|
NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)
|
|
|
|
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu)
|
rs115459512
|
|
|
NM_032861.4(SERAC1):c.1403+1G>A
|
rs1131690799
|
|
|
NM_032861.4(SERAC1):c.1404-13TTGTT[3]
|
|
|
|
NM_032861.4(SERAC1):c.1491T>A (p.His497Gln)
|
rs1064796860
|
|
|
NM_032861.4(SERAC1):c.1501+16A>C
|
rs369225459
|
|
|
NM_032861.4(SERAC1):c.1501+16A>G
|
rs369225459
|
|
|
NM_032861.4(SERAC1):c.1501+4A>C
|
rs755406082
|
|
|
NM_032861.4(SERAC1):c.1501+4A>G
|
rs755406082
|
|
|
NM_032861.4(SERAC1):c.1501+5G>A
|
|
|
|
NM_032861.4(SERAC1):c.1502-16C>T
|
|
|
|
NM_032861.4(SERAC1):c.1502-20T>A
|
rs867006888
|
|
|
NM_032861.4(SERAC1):c.1502-24dup
|
rs780420200
|
|
|
NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)
|
rs2128410682
|
|
|
NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)
|
|
|
|
NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)
|
|
|
|
NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)
|
|
|
|
NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)
|
|
|
|
NM_032861.4(SERAC1):c.162C>T (p.Ala54=)
|
|
|
|
NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)
|
|
|
|
NM_032861.4(SERAC1):c.1684+10T>C
|
|
|
|
NM_032861.4(SERAC1):c.1684+1G>T
|
rs2128410576
|
|
|
NM_032861.4(SERAC1):c.1684+20A>G
|
|
|
|
NM_032861.4(SERAC1):c.1684+2T>C
|
|
|
|
NM_032861.4(SERAC1):c.1684+7C>T
|
rs765831183
|
|
|
NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)
|
|
|
|
NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)
|
|
|
|
NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)
|
|
|
|
NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)
|
|
|
|
NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)
|
|
|
|
NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)
|
|
|
|
NM_032861.4(SERAC1):c.1829-6C>G
|
|
|
|
NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)
|
|
|
|
NM_032861.4(SERAC1):c.183A>G (p.Leu61=)
|
|
|
|
NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)
|
|
|
|
NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)
|
rs768913919
|
|
|
NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)
|
rs768913919
|
|
|
NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)
|
|
|
|
NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)
|
|
|
|
NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)
|
|
|
|
NM_032861.4(SERAC1):c.195G>A (p.Val65=)
|
rs2128422348
|
|
|
NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)
|
rs1784140439
|
|
|
NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)
|
|
|
|
NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)
|
|
|
|
NM_032861.4(SERAC1):c.203G>A (p.Arg68Gln)
|
rs1384614641
|
|
|
NM_032861.4(SERAC1):c.206A>G (p.Glu69Gly)
|
rs2128422343
|
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
|
NM_032861.4(SERAC1):c.21C>T (p.Cys7=)
|
rs139301835
|
|
|
NM_032861.4(SERAC1):c.227_228dup (p.Val77fs)
|
rs886041750
|
|
|
NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)
|
|
|
|
NM_032861.4(SERAC1):c.254G>A (p.Gly85Glu)
|
rs376468988
|
|
|
NM_032861.4(SERAC1):c.265+11T>C
|
|
|
|
NM_032861.4(SERAC1):c.265+11del
|
|
|
|
NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)
|
|
|
|
NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)
|
|
|
|
NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)
|
|
|
|
NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)
|
|
|
|
NM_032861.4(SERAC1):c.356-16T>C
|
rs1785075456
|
|
|
NM_032861.4(SERAC1):c.356-20G>C
|
|
|
|
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly)
|
rs191208250
|
|
|
NM_032861.4(SERAC1):c.412C>A (p.Arg138=)
|
|
|
|
NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)
|
|
|
|
NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)
|
|
|
|
NM_032861.4(SERAC1):c.44G>A (p.Gly15Glu)
|
rs1785406112
|
|
|
NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)
|
|
|
|
NM_032861.4(SERAC1):c.468G>A (p.Ser156=)
|
|
|
|
NM_032861.4(SERAC1):c.488-3T>G
|
rs2128420377
|
|
|
NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)
|
|
|
|
NM_032861.4(SERAC1):c.555A>G (p.Glu185=)
|
|
|
|
NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)
|
|
|
|
NM_032861.4(SERAC1):c.566T>G (p.Leu189Arg)
|
rs576602246
|
|
|
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
|
rs564717592
|
|
|
NM_032861.4(SERAC1):c.582A>G (p.Leu194=)
|
|
|
|
NM_032861.4(SERAC1):c.610-17C>G
|
|
|
|
NM_032861.4(SERAC1):c.625G>T (p.Glu209Ter)
|
rs1383515185
|
|
|
NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)
|
|
|
|
NM_032861.4(SERAC1):c.719A>G (p.Gln240Arg)
|
|
|
|
NM_032861.4(SERAC1):c.72C>A (p.Gly24=)
|
|
|
|
NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)
|
|
|
|
NM_032861.4(SERAC1):c.738+5G>C
|
|
|
|
NM_032861.4(SERAC1):c.739-13A>G
|
|
|
|
NM_032861.4(SERAC1):c.739-15T>A
|
rs1055428813
|
|
|
NM_032861.4(SERAC1):c.771T>C (p.Leu257=)
|
|
|
|
NM_032861.4(SERAC1):c.772C>T (p.Pro258Ser)
|
rs571113650
|
|
|
NM_032861.4(SERAC1):c.777T>G (p.Tyr259Ter)
|
|
|
|
NM_032861.4(SERAC1):c.780T>C (p.Ala260=)
|
rs2128415873
|
|
|
NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)
|
|
|
|
NM_032861.4(SERAC1):c.819G>A (p.Met273Ile)
|
|
|
|
NM_032861.4(SERAC1):c.821T>C (p.Phe274Ser)
|
|
|
|
NM_032861.4(SERAC1):c.840A>T (p.Val280=)
|
rs2128415848
|
|
|
NM_032861.4(SERAC1):c.852+16A>T
|
|
|
|
NM_032861.4(SERAC1):c.852+7T>C
|
rs1452026354
|
|
|
NM_032861.4(SERAC1):c.863A>C (p.His288Pro)
|
|
|
|
NM_032861.4(SERAC1):c.86A>G (p.Asp29Gly)
|
rs779737059
|
|
|
NM_032861.4(SERAC1):c.871A>G (p.Lys291Glu)
|
|
|
|
NM_032861.4(SERAC1):c.876C>A (p.Ile292=)
|
|
|
|
NM_032861.4(SERAC1):c.885T>C (p.Asn295=)
|
|
|
|
NM_032861.4(SERAC1):c.897G>A (p.Gln299=)
|
|
|
|
NM_032861.4(SERAC1):c.91+13T>A
|
|
|
|
NM_032861.4(SERAC1):c.91+9A>G
|
|
|
|
NM_032861.4(SERAC1):c.92-10del
|
|
|
|
NM_032861.4(SERAC1):c.92-17C>T
|
rs1785305261
|
|
|
NM_032861.4(SERAC1):c.92-20del
|
|
|
|
NM_032861.4(SERAC1):c.931T>C (p.Cys311Arg)
|
rs2128415147
|
|
|
NM_032861.4(SERAC1):c.940G>T (p.Val314Leu)
|
|
|
|
NM_032861.4(SERAC1):c.958C>T (p.Arg320Cys)
|
|
|
|
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del)
|
rs754630732
|
|
|
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
|
|
|
|
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
|
rs1884735595
|
|
|
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
|
|
|
|
NM_052845.4(MMAB):c.108C>T (p.Gly36=)
|
rs2136213363
|
|
|
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
|
|
|
|
NM_052845.4(MMAB):c.116del (p.Gly39fs)
|
|
|
|
NM_052845.4(MMAB):c.126C>T (p.Asp42=)
|
rs2136213327
|
|
|
NM_052845.4(MMAB):c.132C>T (p.Asp44=)
|
rs747649185
|
|
|
NM_052845.4(MMAB):c.134+10T>G
|
|
|
|
NM_052845.4(MMAB):c.134+14G>A
|
|
|
|
NM_052845.4(MMAB):c.134+16del
|
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
|
NM_052845.4(MMAB):c.134+20G>A
|
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
|
NM_052845.4(MMAB):c.134+7G>A
|
|
|
|
NM_052845.4(MMAB):c.135-12A>T
|
|
|
|
NM_052845.4(MMAB):c.135-19G>A
|
|
|
|
NM_052845.4(MMAB):c.135-8C>T
|
rs2136210870
|
|
|
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
|
|
|
|
NM_052845.4(MMAB):c.144T>G (p.Pro48=)
|
rs2136210832
|
|
|
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
|
|
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
|
NM_052845.4(MMAB):c.165C>T (p.Ile55=)
|
rs2136210798
|
|
|
NM_052845.4(MMAB):c.16C>T (p.Leu6=)
|
rs1190176115
|
|
|
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)
|
rs2136210789
|
|
|
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
|
|
|
|
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
|
|
|
|
NM_052845.4(MMAB):c.189A>G (p.Gly63=)
|
rs2136210776
|
|
|
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
|
|
|
|
NM_052845.4(MMAB):c.196+13C>G
|
|
|
|
NM_052845.4(MMAB):c.196+17T>G
|
|
|
|
NM_052845.4(MMAB):c.196+9G>A
|
|
|
|
NM_052845.4(MMAB):c.197-12T>C
|
|
|
|
NM_052845.4(MMAB):c.197-14A>G
|
|
|
|
NM_052845.4(MMAB):c.197-15C>A
|
|
|
|
NM_052845.4(MMAB):c.197-1G>A
|
rs763935916
|
|
|
NM_052845.4(MMAB):c.197-7T>C
|
|
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
|
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
|
rs1884749143
|
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
|
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
|
|
|
|
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
|
rs2136208377
|
|
|
NM_052845.4(MMAB):c.222A>G (p.Glu74=)
|
rs1389815526
|
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
|
NM_052845.4(MMAB):c.225G>A (p.Arg75=)
|
rs267603297
|
|
|
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
|
|
|
|
NM_052845.4(MMAB):c.243A>G (p.Gln81=)
|
rs1473011297
|
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
|
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
|
|
|
|
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
|
|
|
|
NM_052845.4(MMAB):c.258G>A (p.Val86=)
|
rs2136208331
|
|
|
NM_052845.4(MMAB):c.266del (p.Thr89fs)
|
|
|
|
NM_052845.4(MMAB):c.27T>C (p.Arg9=)
|
rs1311011214
|
|
|
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
|
|
|
|
NM_052845.4(MMAB):c.290+12A>G
|
|
|
|
NM_052845.4(MMAB):c.290+19G>T
|
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
|
NM_052845.4(MMAB):c.290+7G>C
|
|
|
|
NM_052845.4(MMAB):c.290+8G>T
|
|
|
|
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)
|
rs864309511
|
|
|
NM_052845.4(MMAB):c.291-15C>G
|
|
|
|
NM_052845.4(MMAB):c.291-16del
|
|
|
|
NM_052845.4(MMAB):c.291-18T>C
|
|
|
|
NM_052845.4(MMAB):c.291-3dup
|
rs2136203965
|
|
|
NM_052845.4(MMAB):c.291-5C>G
|
|
|
|
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
|
|
|
|
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
|
rs2136203950
|
|
|
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
|
|
|
|
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
|
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
|
rs757088429
|
|
|
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
|
|
|
|
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
|
|
|
|
NM_052845.4(MMAB):c.330del (p.Phe110fs)
|
rs2136203888
|
|
|
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
|
|
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
|
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
|
|
|
|
NM_052845.4(MMAB):c.342T>A (p.Leu114=)
|
rs2136203863
|
|
|
NM_052845.4(MMAB):c.348+11C>T
|
|
|
|
NM_052845.4(MMAB):c.348+20C>G
|
|
|
|
NM_052845.4(MMAB):c.349-14C>G
|
|
|
|
NM_052845.4(MMAB):c.349-20C>T
|
|
|
|
NM_052845.4(MMAB):c.349-4C>G
|
rs2136199982
|
|
|
NM_052845.4(MMAB):c.349-5C>G
|
|
|
|
NM_052845.4(MMAB):c.349-5C>T
|
rs1228758269
|
|
|
NM_052845.4(MMAB):c.349-6C>T
|
|
|
|
NM_052845.4(MMAB):c.349-8C>A
|
|
|
|
NM_052845.4(MMAB):c.349-8C>G
|
rs1468191738
|
|
|
NM_052845.4(MMAB):c.349-8C>T
|
rs1468191738
|
|
|
NM_052845.4(MMAB):c.349-8dup
|
rs759049347
|
|
|
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
|
|
|
|
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
|
|
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
|
NM_052845.4(MMAB):c.381C>T (p.Ala127=)
|
rs1204546700
|
|
|
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
|
|
|
|
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
|
|
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
|
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
|
rs760995089
|
|
|
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
|
|
|
|
NM_052845.4(MMAB):c.414T>G (p.Ala138=)
|
rs2136199754
|
|
|
NM_052845.4(MMAB):c.417C>T (p.His139=)
|
rs2136199746
|
|
|
NM_052845.4(MMAB):c.418T>C (p.Leu140=)
|
rs768054177
|
|
|
NM_052845.4(MMAB):c.421+14T>A
|
rs760915792
|
|
|
NM_052845.4(MMAB):c.421+18G>C
|
|
|
|
NM_052845.4(MMAB):c.421+1G>A
|
rs2136199734
|
|
|
NM_052845.4(MMAB):c.421+7C>A
|
|
|
|
NM_052845.4(MMAB):c.422-19del
|
|
|
|
NM_052845.4(MMAB):c.422-1G>A
|
|
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
|
NM_052845.4(MMAB):c.422-5_422-3del
|
rs2136199438
|
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
|
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
|
|
|
|
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
|
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
|
NM_052845.4(MMAB):c.432G>A (p.Thr144=)
|
rs200127370
|
|
|
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
|
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
|
NM_052845.4(MMAB):c.441G>A (p.Ala147=)
|
rs1038979872
|
|
|
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
|
rs1038979872
|
|
|
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
|
|
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
|
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)
|
rs2136199292
|
|
|
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
|
|
|
|
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)
|
rs2136199270
|
|
|
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
|
rs1884201610
|
|
|
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
|
|
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
|
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
|
|
|
|
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
|
|
|
|
NM_052845.4(MMAB):c.513C>T (p.Ile171=)
|
rs2136199131
|
|
|
NM_052845.4(MMAB):c.519+10G>A
|
rs771725706
|
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
|
NM_052845.4(MMAB):c.519+16G>A
|
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
|
NM_052845.4(MMAB):c.519+19T>A
|
|
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
|
NM_052845.4(MMAB):c.520-15C>T
|
|
|
|
NM_052845.4(MMAB):c.520-18G>A
|
|
|
|
NM_052845.4(MMAB):c.520-19T>C
|
|
|
|
NM_052845.4(MMAB):c.520-20A>G
|
|
|
|
NM_052845.4(MMAB):c.520-4T>C
|
|
|
|
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
|
rs374802787
|
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
|
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
|
|
|
|
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
|
|
|
|
NM_052845.4(MMAB):c.54G>A (p.Leu18=)
|
rs1884741296
|
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
|
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
|
|
|
|
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
|
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
|
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
|
|
|
|
NM_052845.4(MMAB):c.561C>G (p.Ala187=)
|
rs370773720
|
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
|
NM_052845.4(MMAB):c.564G>A (p.Val188=)
|
|
|
|
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
|
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
|
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
|
rs36013132
|
|
|
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
|
|
|
|
NM_052845.4(MMAB):c.573G>C (p.Arg191=)
|
rs2136198226
|
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
|
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
|
|
|
|
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
|
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
|
NM_052845.4(MMAB):c.579G>A (p.Glu193=)
|
rs2136198146
|
|
|
NM_052845.4(MMAB):c.57C>G (p.Arg19=)
|
rs10774774
|
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
|
NM_052845.4(MMAB):c.584+12G>A
|
|
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
|
NM_052845.4(MMAB):c.584+8G>C
|
|
|
|
NM_052845.4(MMAB):c.584+9G>C
|
|
|
|
NM_052845.4(MMAB):c.585-10C>T
|
rs375474421
|
|
|
NM_052845.4(MMAB):c.585-12C>T
|
|
|
|
NM_052845.4(MMAB):c.585-16T>A
|
|
|
|
NM_052845.4(MMAB):c.585-16T>C
|
|
|
|
NM_052845.4(MMAB):c.585-17G>A
|
|
|
|
NM_052845.4(MMAB):c.585-18T>C
|
|
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
|
NM_052845.4(MMAB):c.585-4C>G
|
rs2136195288
|
|
|
NM_052845.4(MMAB):c.585-9C>T
|
|
|
|
NM_052845.4(MMAB):c.591G>A (p.Val197=)
|
rs2136195257
|
|
|
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
|
|
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
|
NM_052845.4(MMAB):c.60G>A (p.Gly20=)
|
rs766597566
|
|
|
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
|
rs766597566
|
|
|
NM_052845.4(MMAB):c.615C>G (p.Thr205=)
|
rs760629956
|
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
|
NM_052845.4(MMAB):c.61dup (p.Cys21fs)
|
rs2136213505
|
|
|
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
|
|
|
|
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
|
|
|
|
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
|
|
|
|
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)
|
rs2136195113
|
|
|
NM_052845.4(MMAB):c.644+14A>C
|
|
|
|
NM_052845.4(MMAB):c.644+17T>C
|
|
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
|
NM_052845.4(MMAB):c.644+7dup
|
|
|
|
NM_052845.4(MMAB):c.645-16C>A
|
|
|
|
NM_052845.4(MMAB):c.645-20CT[6]
|
|
|
|
NM_052845.4(MMAB):c.645-7C>T
|
|
|
|
NM_052845.4(MMAB):c.645-8C>T
|
|
|
|
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
|
|
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
|
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
|
rs2136192590
|
|
|
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
|
|
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
|
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
|
rs369296142
|
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
|
NM_052845.4(MMAB):c.66C>T (p.Phe22=)
|
rs765869812
|
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
|
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
|
|
|
|
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
|
|
|
|
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
|
|
|
|
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
|
|
|
|
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
|
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
|
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
|
rs186864802
|
|
|
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
|
rs377015836
|
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|
|
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
|
|
|
|
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
|
rs747142605
|
|
|
NM_054012.4(ASS1):c.1009T>G (p.Cys337Gly)
|
rs1554725043
|
|
|
NM_054012.4(ASS1):c.1010_1011delinsAA (p.Cys337Ter)
|
rs2118880115
|
|
|
NM_054012.4(ASS1):c.1020G>A (p.Lys340=)
|
|
|
|
NM_054012.4(ASS1):c.1025A>C (p.Gln342Pro)
|
|
|
|
NM_054012.4(ASS1):c.1025A>G (p.Gln342Arg)
|
rs1554725061
|
|
|
NM_054012.4(ASS1):c.102T>C (p.Tyr34=)
|
rs1236633346
|
|
|
NM_054012.4(ASS1):c.1035G>A (p.Val345=)
|
rs2118880192
|
|
|
NM_054012.4(ASS1):c.1041G>A (p.Gly347=)
|
|
|
|
NM_054012.4(ASS1):c.1041G>T (p.Gly347=)
|
|
|
|
NM_054012.4(ASS1):c.1048C>T (p.Gln350Ter)
|
rs2118880266
|
|
|
NM_054012.4(ASS1):c.105+10C>A
|
rs1010509460
|
|
|
NM_054012.4(ASS1):c.105+11G>A
|
|
|
|
NM_054012.4(ASS1):c.105+14C>G
|
|
|
|
NM_054012.4(ASS1):c.105+17G>C
|
|
|
|
NM_054012.4(ASS1):c.105+7G>A
|
|
|
|
NM_054012.4(ASS1):c.106-14C>T
|
|
|
|
NM_054012.4(ASS1):c.106-15G>A
|
rs77534228
|
|
|
NM_054012.4(ASS1):c.106-15G>C
|
|
|
|
NM_054012.4(ASS1):c.106-15G>T
|
|
|
|
NM_054012.4(ASS1):c.106-19C>G
|
|
|
|
NM_054012.4(ASS1):c.106-5C>T
|
|
|
|
NM_054012.4(ASS1):c.1060del (p.Leu354fs)
|
|
|
|
NM_054012.4(ASS1):c.1062C>G (p.Leu354=)
|
rs763822587
|
|
|
NM_054012.4(ASS1):c.1062C>T (p.Leu354=)
|
rs763822587
|
|
|
NM_054012.4(ASS1):c.1070A>G (p.Gln357Arg)
|
rs1846543789
|
|
|
NM_054012.4(ASS1):c.1075T>G (p.Tyr359Asp)
|
rs1262020902
|
|
|
NM_054012.4(ASS1):c.1077C>T (p.Tyr359=)
|
|
|
|
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
|
rs121908647
|
|
|
NM_054012.4(ASS1):c.1086C>T (p.Gly362=)
|
|
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
|
NM_054012.4(ASS1):c.1090del (p.Glu364fs)
|
|
|
|
NM_054012.4(ASS1):c.1104T>C (p.Ser368=)
|
|
|
|
NM_054012.4(ASS1):c.1107_1108del (p.Tyr370fs)
|
rs2118880626
|
|
|
NM_054012.4(ASS1):c.1110C>T (p.Tyr370=)
|
rs1588508629
|
|
|
NM_054012.4(ASS1):c.1118_1123del (p.Glu373_Leu374del)
|
rs2118880656
|
|
|
NM_054012.4(ASS1):c.111C>T (p.Asn37=)
|
|
|
|
NM_054012.4(ASS1):c.1125G>A (p.Val375=)
|
|
|
|
NM_054012.4(ASS1):c.1127+10C>T
|
|
|
|
NM_054012.4(ASS1):c.1127+17_1127+27del
|
|
|
|
NM_054012.4(ASS1):c.1127+18C>T
|
|
|
|
NM_054012.4(ASS1):c.1128-12C>T
|
|
|
|
NM_054012.4(ASS1):c.1128-16T>C
|
|
|
|
NM_054012.4(ASS1):c.1128-20A>G
|
|
|
|
NM_054012.4(ASS1):c.1128-4G>A
|
|
|
|
NM_054012.4(ASS1):c.1128-6_1188dup
|
rs1554725677
|
|
|
NM_054012.4(ASS1):c.1128-7C>T
|
rs1846686034
|
|
|
NM_054012.4(ASS1):c.1128_1134delinsG (p.Ser376_Asn378delinsArg)
|
rs1439911743
|
|
|
NM_054012.4(ASS1):c.1130T>C (p.Met377Thr)
|
|
|
|
NM_054012.4(ASS1):c.1135G>A (p.Val379Met)
|
|
|
|
NM_054012.4(ASS1):c.1137G>A (p.Val379=)
|
|
|
|
NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter)
|
rs786204460
|
|
|
NM_054012.4(ASS1):c.1149T>C (p.Tyr383=)
|
|
|
|
NM_054012.4(ASS1):c.1152G>A (p.Glu384=)
|
rs2118893688
|
|
|
NM_054012.4(ASS1):c.1153C>G (p.Pro385Ala)
|
|
|
|
NM_054012.4(ASS1):c.1157_1158del (p.Thr386fs)
|
rs1846687897
|
|
|
NM_054012.4(ASS1):c.115G>C (p.Gly39Arg)
|
rs2131869276
|
|
|
NM_054012.4(ASS1):c.1161T>C (p.Asp387=)
|
rs1193686175
|
|
|
NM_054012.4(ASS1):c.1162G>T (p.Ala388Ser)
|
|
|
|
NM_054012.4(ASS1):c.1164C>T (p.Ala388=)
|
|
|
|
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile)
|
rs1474017319
|
|
|
NM_054012.4(ASS1):c.1167C>G (p.Thr389=)
|
rs772796860
|
|
|
NM_054012.4(ASS1):c.1170G>A (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1170G>C (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1170G>T (p.Gly390=)
|
rs1332789289
|
|
|
NM_054012.4(ASS1):c.1176C>G (p.Ile392Met)
|
|
|
|
NM_054012.4(ASS1):c.1176C>T (p.Ile392=)
|
|
|
|
NM_054012.4(ASS1):c.1179C>T (p.Asn393=)
|
rs754836732
|
|
|
NM_054012.4(ASS1):c.117C>G (p.Gly39=)
|
rs1378899995
|
|
|
NM_054012.4(ASS1):c.117C>T (p.Gly39=)
|
|
|
|
NM_054012.4(ASS1):c.1188C>A (p.Ser396=)
|
|
|
|
NM_054012.4(ASS1):c.1191C>G (p.Leu397=)
|
|
|
|
NM_054012.4(ASS1):c.1191C>T (p.Leu397=)
|
rs2118893885
|
|
|
NM_054012.4(ASS1):c.1193+14G>C
|
|
|
|
NM_054012.4(ASS1):c.1193+18C>G
|
|
|
|
NM_054012.4(ASS1):c.1193+7A>G
|
|
|
|
NM_054012.4(ASS1):c.1193+8G>A
|
|
|
|
NM_054012.4(ASS1):c.1194-8G>A
|
rs2118897971
|
|
|
NM_054012.4(ASS1):c.1194-9G>T
|
|
|
|
NM_054012.4(ASS1):c.1194G>C (p.Arg398Ser)
|
|
|
|
NM_054012.4(ASS1):c.1200G>A (p.Lys400=)
|
|
|
|
NM_054012.4(ASS1):c.1201G>A (p.Glu401Lys)
|
rs990803455
|
|
|
NM_054012.4(ASS1):c.120del (p.Lys41fs)
|
rs1554982237
|
|
|
NM_054012.4(ASS1):c.1215C>G (p.Leu405=)
|
rs1278858341
|
|
|
NM_054012.4(ASS1):c.1233C>T (p.Ala411=)
|
rs2118898134
|
|
|
NM_054012.4(ASS1):c.123G>A (p.Lys41=)
|
|
|
|
NM_054012.4(ASS1):c.133G>A (p.Glu45Lys)
|
|
|
|
NM_054012.4(ASS1):c.138_139del (p.Glu46fs)
|
|
|
|
NM_054012.4(ASS1):c.140C>T (p.Ala47Val)
|
rs1301161301
|
|
|
NM_054012.4(ASS1):c.14G>C (p.Gly5Ala)
|
rs201700775
|
|
|
NM_054012.4(ASS1):c.153A>G (p.Ala51=)
|
|
|
|
NM_054012.4(ASS1):c.159G>A (p.Lys53=)
|
rs2131869324
|
|
|
NM_054012.4(ASS1):c.160C>G (p.Leu54Val)
|
rs1564902078
|
|
|
NM_054012.4(ASS1):c.165G>T (p.Gly55=)
|
rs146333243
|
|
|
NM_054012.4(ASS1):c.167C>A (p.Ala56Asp)
|
rs2131869336
|
|
|
NM_054012.4(ASS1):c.16T>G (p.Ser6Ala)
|
|
|
|
NM_054012.4(ASS1):c.174+14G>A
|
rs1554982247
|
|
|
NM_054012.4(ASS1):c.174+16C>G
|
|
|
|
NM_054012.4(ASS1):c.174+18G>A
|
|
|
|
NM_054012.4(ASS1):c.174+1G>A
|
rs748264993
|
|
|
NM_054012.4(ASS1):c.174+7G>A
|
|
|
|
NM_054012.4(ASS1):c.174+8G>T
|
|
|
|
NM_054012.4(ASS1):c.175-10C>T
|
rs1412793547
|
|
|
NM_054012.4(ASS1):c.175-12C>T
|
|
|
|
NM_054012.4(ASS1):c.175-13C>T
|
|
|
|
NM_054012.4(ASS1):c.175-15CTC[3]
|
|
|
|
NM_054012.4(ASS1):c.175-19T>C
|
|
|
|
NM_054012.4(ASS1):c.175-20C>T
|
|
|
|
NM_054012.4(ASS1):c.175-4G>C
|
rs370817871
|
|
|
NM_054012.4(ASS1):c.175-6C>G
|
|
|
|
NM_054012.4(ASS1):c.175-7C>A
|
|
|
|
NM_054012.4(ASS1):c.175-7C>G
|
rs567594559
|
|
|
NM_054012.4(ASS1):c.177G>A (p.Val59=)
|
|
|
|
NM_054012.4(ASS1):c.180C>T (p.Phe60=)
|
|
|
|
NM_054012.4(ASS1):c.182T>C (p.Ile61Thr)
|
|
|
|
NM_054012.4(ASS1):c.186G>A (p.Glu62=)
|
|
|
|
NM_054012.4(ASS1):c.188_189del (p.Asp63fs)
|
|
|
|
NM_054012.4(ASS1):c.189T>C (p.Asp63=)
|
|
|
|
NM_054012.4(ASS1):c.18C>G (p.Ser6=)
|
rs555717331
|
|
|
NM_054012.4(ASS1):c.198G>A (p.Arg66=)
|
|
|
|
NM_054012.4(ASS1):c.199G>A (p.Glu67Lys)
|
|
|
|
NM_054012.4(ASS1):c.199G>T (p.Glu67Ter)
|
|
|
|
NM_054012.4(ASS1):c.207G>A (p.Val69=)
|
rs2131873972
|
|
|
NM_054012.4(ASS1):c.213G>A (p.Glu71=)
|
rs373501531
|
|
|
NM_054012.4(ASS1):c.214T>A (p.Phe72Ile)
|
|
|
|
NM_054012.4(ASS1):c.216C>G (p.Phe72Leu)
|
rs1554982824
|
|
|
NM_054012.4(ASS1):c.222G>A (p.Trp74Ter)
|
|
|
|
NM_054012.4(ASS1):c.231C>G (p.Ile77Met)
|
|
|
|
NM_054012.4(ASS1):c.234G>A (p.Gln78=)
|
|
|
|
NM_054012.4(ASS1):c.241_242del (p.Ala81fs)
|
|
|
|
NM_054012.4(ASS1):c.250G>A (p.Glu84Lys)
|
rs1554982834
|
|
|
NM_054012.4(ASS1):c.258C>T (p.Arg86=)
|
|
|
|
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile)
|
rs895822620
|
|
|
NM_054012.4(ASS1):c.264C>T (p.Leu88=)
|
|
|
|
NM_054012.4(ASS1):c.267G>C (p.Leu89=)
|
|
|
|
NM_054012.4(ASS1):c.271A>C (p.Thr91Pro)
|
|
|
|
NM_054012.4(ASS1):c.273C>G (p.Thr91=)
|
|
|
|
NM_054012.4(ASS1):c.285_286delinsTT (p.Arg95_Pro96delinsSerSer)
|
|
|
|
NM_054012.4(ASS1):c.286C>A (p.Pro96Thr)
|
rs2131874080
|
|
|
NM_054012.4(ASS1):c.28G>C (p.Ala10Pro)
|
rs1845345016
|
|
|
NM_054012.4(ASS1):c.294C>A (p.Ile98=)
|
rs183370361
|
|
|
NM_054012.4(ASS1):c.300C>T (p.Arg100=)
|
|
|
|
NM_054012.4(ASS1):c.309G>A (p.Val103=)
|
rs1845505058
|
|
|
NM_054012.4(ASS1):c.314T>G (p.Ile105Ser)
|
rs1845505181
|
|
|
NM_054012.4(ASS1):c.317C>G (p.Ala106Gly)
|
|
|
|
NM_054012.4(ASS1):c.318C>T (p.Ala106=)
|
|
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
|
NM_054012.4(ASS1):c.322C>A (p.Arg108=)
|
rs143405567
|
|
|
NM_054012.4(ASS1):c.323G>A (p.Arg108Gln)
|
|
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
|
NM_054012.4(ASS1):c.324G>A (p.Arg108=)
|
|
|
|
NM_054012.4(ASS1):c.339T>G (p.Tyr113Ter)
|
rs1845506282
|
|
|
NM_054012.4(ASS1):c.350G>A (p.Gly117Asp)
|
rs745404241
|
|
|
NM_054012.4(ASS1):c.356C>T (p.Thr119Ile)
|
rs1845507027
|
|
|
NM_054012.4(ASS1):c.360A>G (p.Gly120=)
|
|
|
|
NM_054012.4(ASS1):c.363+17G>T
|
|
|
|
NM_054012.4(ASS1):c.363+19G>T
|
|
|
|
NM_054012.4(ASS1):c.363+1G>A
|
|
|
|
NM_054012.4(ASS1):c.363+20C>G
|
|
|
|
NM_054012.4(ASS1):c.363+7C>T
|
|
|
|
NM_054012.4(ASS1):c.363+8A>C
|
|
|
|
NM_054012.4(ASS1):c.363+9C>T
|
rs2131874222
|
|
|
NM_054012.4(ASS1):c.363G>A (p.Lys121=)
|
rs2131874200
|
|
|
NM_054012.4(ASS1):c.364-2A>T
|
rs774231051
|
|
|
NM_054012.4(ASS1):c.364-7A>C
|
|
|
|
NM_054012.4(ASS1):c.366G>T (p.Gly122=)
|
|
|
|
NM_054012.4(ASS1):c.370G>T (p.Asp124Tyr)
|
|
|
|
NM_054012.4(ASS1):c.373C>T (p.Gln125Ter)
|
rs2131879687
|
|
|
NM_054012.4(ASS1):c.378C>G (p.Val126=)
|
|
|
|
NM_054012.4(ASS1):c.379C>G (p.Arg127Gly)
|
rs771794639
|
|
|
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu)
|
rs201623252
|
|
|
NM_054012.4(ASS1):c.399C>T (p.Tyr133=)
|
rs766423479
|
|
|
NM_054012.4(ASS1):c.403C>T (p.Leu135=)
|
|
|
|
NM_054012.4(ASS1):c.404T>C (p.Leu135Pro)
|
|
|
|
NM_054012.4(ASS1):c.406_414del (p.Ala136_Gln138del)
|
rs1554983716
|
|
|
NM_054012.4(ASS1):c.408C>A (p.Ala136=)
|
|
|
|
NM_054012.4(ASS1):c.408C>T (p.Ala136=)
|
rs765880041
|
|
|
NM_054012.4(ASS1):c.412C>T (p.Gln138Ter)
|
rs1057516339
|
|
|
NM_054012.4(ASS1):c.412dup (p.Gln138fs)
|
rs1554983717
|
|
|
NM_054012.4(ASS1):c.420+10G>T
|
|
|
|
NM_054012.4(ASS1):c.420+12C>T
|
|
|
|
NM_054012.4(ASS1):c.420+13T>A
|
|
|
|
NM_054012.4(ASS1):c.420+18C>G
|
|
|
|
NM_054012.4(ASS1):c.420+19C>A
|
rs2131879768
|
|
|
NM_054012.4(ASS1):c.420+3A>G
|
|
|
|
NM_054012.4(ASS1):c.420+8G>A
|
|
|
|
NM_054012.4(ASS1):c.421-11C>G
|
|
|
|
NM_054012.4(ASS1):c.421-14T>C
|
|
|
|
NM_054012.4(ASS1):c.421-16C>T
|
|
|
|
NM_054012.4(ASS1):c.421-17C>G
|
|
|
|
NM_054012.4(ASS1):c.421-18C>A
|
|
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
|
NM_054012.4(ASS1):c.421-7T>C
|
rs1588483261
|
|
|
NM_054012.4(ASS1):c.421-8A>G
|
rs764424984
|
|
|
NM_054012.4(ASS1):c.421-8A>T
|
rs764424984
|
|
|
NM_054012.4(ASS1):c.426T>A (p.Ile142=)
|
rs2131882512
|
|
|
NM_054012.4(ASS1):c.429T>C (p.Ala143=)
|
|
|
|
NM_054012.4(ASS1):c.42C>G (p.Gly14=)
|
|
|
|
NM_054012.4(ASS1):c.444T>C (p.Pro148=)
|
rs1564907641
|
|
|
NM_054012.4(ASS1):c.447A>G (p.Glu149=)
|
|
|
|
NM_054012.4(ASS1):c.450C>T (p.Phe150=)
|
rs2131882534
|
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
|
NM_054012.4(ASS1):c.456C>T (p.Asn152=)
|
|
|
|
NM_054012.4(ASS1):c.457C>A (p.Arg153=)
|
rs576636333
|
|
|
NM_054012.4(ASS1):c.459G>T (p.Arg153=)
|
|
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
|
NM_054012.4(ASS1):c.462C>T (p.Phe154=)
|
|
|
|
NM_054012.4(ASS1):c.463A>T (p.Lys155Ter)
|
|
|
|
NM_054012.4(ASS1):c.471C>T (p.Arg157=)
|
|
|
|
NM_054012.4(ASS1):c.472A>G (p.Asn158Asp)
|
rs1199062770
|
|
|
NM_054012.4(ASS1):c.481A>T (p.Met161Leu)
|
|
|
|
NM_054012.4(ASS1):c.484dup (p.Glu162fs)
|
rs1313340299
|
|
|
NM_054012.4(ASS1):c.486G>A (p.Glu162=)
|
|
|
|
NM_054012.4(ASS1):c.489C>A (p.Tyr163Ter)
|
rs377319610
|
|
|
NM_054012.4(ASS1):c.489C>G (p.Tyr163Ter)
|
rs377319610
|
|
|
NM_054012.4(ASS1):c.490G>C (p.Ala164Pro)
|
rs201445618
|
|
|
NM_054012.4(ASS1):c.495+11G>C
|
|
|
|
NM_054012.4(ASS1):c.495+15C>A
|
|
|
|
NM_054012.4(ASS1):c.495+16C>T
|
|
|
|
NM_054012.4(ASS1):c.495+1G>C
|
rs1845754405
|
|
|
NM_054012.4(ASS1):c.495+1G>T
|
rs1845754405
|
|
|
NM_054012.4(ASS1):c.495+20C>G
|
|
|
|
NM_054012.4(ASS1):c.495+20C>T
|
|
|
|
NM_054012.4(ASS1):c.495+2T>C
|
rs2131882609
|
|
|
NM_054012.4(ASS1):c.495+7C>T
|
|
|
|
NM_054012.4(ASS1):c.496-15_496-14del
|
|
|
|
NM_054012.4(ASS1):c.496-16T>C
|
|
|
|
NM_054012.4(ASS1):c.496-18G>T
|
|
|
|
NM_054012.4(ASS1):c.496-20G>A
|
|
|
|
NM_054012.4(ASS1):c.496-5T>C
|
|
|
|
NM_054012.4(ASS1):c.496-7C>G
|
|
|
|
NM_054012.4(ASS1):c.500A>G (p.His167Arg)
|
|
|
|
NM_054012.4(ASS1):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_054012.4(ASS1):c.515C>G (p.Pro172Arg)
|
rs372078387
|
|
|
NM_054012.4(ASS1):c.516G>C (p.Pro172=)
|
|
|
|
NM_054012.4(ASS1):c.518T>A (p.Val173Asp)
|
rs1588486990
|
|
|
NM_054012.4(ASS1):c.51C>T (p.Thr17=)
|
rs1045437120
|
|
|
NM_054012.4(ASS1):c.536G>A (p.Trp179Ter)
|
rs2131886482
|
|
|
NM_054012.4(ASS1):c.537G>A (p.Trp179Ter)
|
|
|
|
NM_054012.4(ASS1):c.537G>C (p.Trp179Cys)
|
rs1409764603
|
|
|
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn)
|
rs121908638
|
|
|
NM_054012.4(ASS1):c.539G>T (p.Ser180Ile)
|
rs121908638
|
|
|
NM_054012.4(ASS1):c.544G>A (p.Asp182Asn)
|
|
|
|
NM_054012.4(ASS1):c.557T>G (p.Met186Arg)
|
rs1564151430
|
|
|
NM_054012.4(ASS1):c.566+12C>T
|
|
|
|
NM_054012.4(ASS1):c.566+14T>G
|
|
|
|
NM_054012.4(ASS1):c.566+18C>G
|
rs200036163
|
|
|
NM_054012.4(ASS1):c.566+18C>T
|
rs200036163
|
|
|
NM_054012.4(ASS1):c.566+7C>T
|
|
|
|
NM_054012.4(ASS1):c.566+8C>T
|
rs773713440
|
|
|
NM_054012.4(ASS1):c.566+9C>T
|
rs1445034997
|
|
|
NM_054012.4(ASS1):c.567-14T>C
|
|
|
|
NM_054012.4(ASS1):c.567-20C>T
|
|
|
|
NM_054012.4(ASS1):c.567-5C>G
|
|
|
|
NM_054012.4(ASS1):c.567-6C>A
|
|
|
|
NM_054012.4(ASS1):c.567-6C>G
|
|
|
|
NM_054012.4(ASS1):c.567-6C>T
|
rs1554722504
|
|
|
NM_054012.4(ASS1):c.567-9C>A
|
|
|
|
NM_054012.4(ASS1):c.571G>C (p.Glu191Gln)
|
|
|
|
NM_054012.4(ASS1):c.572A>C (p.Glu191Ala)
|
rs2131887113
|
|
|
NM_054012.4(ASS1):c.574G>A (p.Ala192Thr)
|
rs568893606
|
|
|
NM_054012.4(ASS1):c.576T>G (p.Ala192=)
|
|
|
|
NM_054012.4(ASS1):c.578G>C (p.Gly193Ala)
|
rs2131887129
|
|
|
NM_054012.4(ASS1):c.579A>G (p.Gly193=)
|
|
|
|
NM_054012.4(ASS1):c.57C>A (p.Cys19Ter)
|
|
|
|
NM_054012.4(ASS1):c.582C>T (p.Ile194=)
|
rs2131887137
|
|
|
NM_054012.4(ASS1):c.584T>C (p.Leu195Pro)
|
rs796051936
|
|
|
NM_054012.4(ASS1):c.585G>A (p.Leu195=)
|
rs2131887144
|
|
|
NM_054012.4(ASS1):c.586G>A (p.Glu196Lys)
|
rs1845865147
|
|
|
NM_054012.4(ASS1):c.591C>T (p.Asn197=)
|
rs1355715277
|
|
|
NM_054012.4(ASS1):c.594C>T (p.Pro198=)
|
rs1588487651
|
|
|
NM_054012.4(ASS1):c.597+10del
|
|
|
|
NM_054012.4(ASS1):c.597+14C>A
|
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|
NM_054012.4(ASS1):c.597+19T>A
|
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|
NM_054012.4(ASS1):c.597+7C>A
|
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|
NM_054012.4(ASS1):c.598-12G>A
|
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|
NM_054012.4(ASS1):c.598-12_598-9del
|
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|
|
NM_054012.4(ASS1):c.598-14_598-13del
|
|
|
|
NM_054012.4(ASS1):c.598-20C>G
|
|
|
|
NM_054012.4(ASS1):c.598-20C>T
|
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|
|
NM_054012.4(ASS1):c.598-5T>C
|
rs2118831930
|
|
|
NM_054012.4(ASS1):c.598-5_598-4del
|
rs749907969
|
|
|
NM_054012.4(ASS1):c.598-7T>C
|
|
|
|
NM_054012.4(ASS1):c.598-9T>G
|
|
|
|
NM_054012.4(ASS1):c.601C>G (p.Gln201Glu)
|
|
|
|
NM_054012.4(ASS1):c.601C>T (p.Gln201Ter)
|
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|
|
NM_054012.4(ASS1):c.603A>G (p.Gln201=)
|
|
|
|
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu)
|
rs376371866
|
|
|
NM_054012.4(ASS1):c.60C>T (p.Ile20=)
|
|
|
|
NM_054012.4(ASS1):c.611del (p.Pro204fs)
|
rs2118832071
|
|
|
NM_054012.4(ASS1):c.617T>A (p.Leu206His)
|
|
|
|
NM_054012.4(ASS1):c.618C>T (p.Leu206=)
|
rs2118832086
|
|
|
NM_054012.4(ASS1):c.619T>C (p.Tyr207His)
|
|
|
|
NM_054012.4(ASS1):c.621C>A (p.Tyr207Ter)
|
rs2118832096
|
|
|
NM_054012.4(ASS1):c.621C>T (p.Tyr207=)
|
rs2118832096
|
|
|
NM_054012.4(ASS1):c.623C>G (p.Thr208Arg)
|
rs776441071
|
|
|
NM_054012.4(ASS1):c.625A>G (p.Lys209Glu)
|
|
|
|
NM_054012.4(ASS1):c.631C>T (p.Gln211Ter)
|
|
|
|
NM_054012.4(ASS1):c.638C>T (p.Pro213Leu)
|
rs1486449199
|
|
|
NM_054012.4(ASS1):c.639A>G (p.Pro213=)
|
|
|
|
NM_054012.4(ASS1):c.63C>A (p.Leu21=)
|
rs774476997
|
|
|
NM_054012.4(ASS1):c.645A>G (p.Lys215=)
|
rs2118832166
|
|
|
NM_054012.4(ASS1):c.646G>A (p.Ala216Thr)
|
|
|
|
NM_054012.4(ASS1):c.648C>T (p.Ala216=)
|
|
|
|
NM_054012.4(ASS1):c.651C>A (p.Pro217=)
|
|
|
|
NM_054012.4(ASS1):c.653A>G (p.Asn218Ser)
|
|
|
|
NM_054012.4(ASS1):c.654C>T (p.Asn218=)
|
rs1846035986
|
|
|
NM_054012.4(ASS1):c.65T>G (p.Val22Gly)
|
|
|
|
NM_054012.4(ASS1):c.663C>T (p.Asp221=)
|
|
|
|
NM_054012.4(ASS1):c.669C>G (p.Leu223=)
|
|
|
|
NM_054012.4(ASS1):c.676G>A (p.Glu226Lys)
|
|
|
|
NM_054012.4(ASS1):c.687dup (p.Gly230fs)
|
|
|
|
NM_054012.4(ASS1):c.688+10_688+13dup
|
|
|
|
NM_054012.4(ASS1):c.688+12C>A
|
|
|
|
NM_054012.4(ASS1):c.688+16T>C
|
|
|
|
NM_054012.4(ASS1):c.688+19G>A
|
|
|
|
NM_054012.4(ASS1):c.688+1G>C
|
|
|
|
NM_054012.4(ASS1):c.688+2T>C
|
rs2118832404
|
|
|
NM_054012.4(ASS1):c.688+2del
|
rs2118832409
|
|
|
NM_054012.4(ASS1):c.689-10C>T
|
|
|
|
NM_054012.4(ASS1):c.689-13C>T
|
|
|
|
NM_054012.4(ASS1):c.689-4C>T
|
rs756916286
|
|
|
NM_054012.4(ASS1):c.689-9C>G
|
|
|
|
NM_054012.4(ASS1):c.693C>T (p.Val231=)
|
|
|
|
NM_054012.4(ASS1):c.696T>C (p.Pro232=)
|
|
|
|
NM_054012.4(ASS1):c.710A>T (p.Asn237Ile)
|
|
|
|
NM_054012.4(ASS1):c.714C>G (p.Val238=)
|
rs1252459333
|
|
|
NM_054012.4(ASS1):c.714C>T (p.Val238=)
|
rs1252459333
|
|
|
NM_054012.4(ASS1):c.720T>C (p.Asp240=)
|
rs2118839526
|
|
|
NM_054012.4(ASS1):c.723C>G (p.Gly241=)
|
|
|
|
NM_054012.4(ASS1):c.729C>A (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.729C>G (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.729C>T (p.Thr243=)
|
rs370892743
|
|
|
NM_054012.4(ASS1):c.738C>T (p.Thr246=)
|
rs2118839595
|
|
|
NM_054012.4(ASS1):c.742T>C (p.Leu248=)
|
|
|
|
NM_054012.4(ASS1):c.753C>T (p.Phe251=)
|
rs2118839625
|
|
|
NM_054012.4(ASS1):c.759C>T (p.Tyr253=)
|
rs1588495489
|
|
|
NM_054012.4(ASS1):c.760C>T (p.Leu254=)
|
|
|
|
NM_054012.4(ASS1):c.773+12C>T
|
|
|
|
NM_054012.4(ASS1):c.773+18T>C
|
|
|
|
NM_054012.4(ASS1):c.773+1G>A
|
rs982830431
|
|
|
NM_054012.4(ASS1):c.773+1G>T
|
|
|
|
NM_054012.4(ASS1):c.773+20T>C
|
|
|
|
NM_054012.4(ASS1):c.773+2dup
|
|
|
|
NM_054012.4(ASS1):c.773+4A>C
|
|
|
|
NM_054012.4(ASS1):c.773+4_773+31dup
|
rs768271017
|
|
|
NM_054012.4(ASS1):c.773+8T>C
|
rs1588495530
|
|
|
NM_054012.4(ASS1):c.774-10C>T
|
rs2118841498
|
|
|
NM_054012.4(ASS1):c.774-15C>T
|
|
|
|
NM_054012.4(ASS1):c.774-20T>C
|
|
|
|
NM_054012.4(ASS1):c.774-2A>G
|
rs1588496214
|
|
|
NM_054012.4(ASS1):c.774-4A>G
|
|
|
|
NM_054012.4(ASS1):c.774-5C>G
|
|
|
|
NM_054012.4(ASS1):c.774-5C>T
|
rs767417181
|
|
|
NM_054012.4(ASS1):c.774-7C>T
|
|
|
|
NM_054012.4(ASS1):c.789G>A (p.Val263=)
|
rs1419381608
|
|
|
NM_054012.4(ASS1):c.790G>A (p.Gly264Ser)
|
|
|
|
NM_054012.4(ASS1):c.791G>T (p.Gly264Val)
|
rs1846139972
|
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
|
NM_054012.4(ASS1):c.794G>T (p.Arg265Leu)
|
rs398123131
|
|
|
NM_054012.4(ASS1):c.801C>T (p.Asp267=)
|
|
|
|
NM_054012.4(ASS1):c.804C>T (p.Ile268=)
|
rs773540764
|
|
|
NM_054012.4(ASS1):c.807G>T (p.Val269=)
|
rs1371433843
|
|
|
NM_054012.4(ASS1):c.812dup (p.Asn271fs)
|
rs759483921
|
|
|
NM_054012.4(ASS1):c.813C>T (p.Asn271=)
|
rs1361123853
|
|
|
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)
|
rs762387914
|
|
|
NM_054012.4(ASS1):c.827T>C (p.Met276Thr)
|
rs1365759588
|
|
|
NM_054012.4(ASS1):c.827_838+25del
|
|
|
|
NM_054012.4(ASS1):c.831G>C (p.Lys277Asn)
|
rs2118841820
|
|
|
NM_054012.4(ASS1):c.832del (p.Ser278fs)
|
rs1846142146
|
|
|
NM_054012.4(ASS1):c.838+12C>A
|
|
|
|
NM_054012.4(ASS1):c.838+12C>T
|
|
|
|
NM_054012.4(ASS1):c.838+14G>A
|
|
|
|
NM_054012.4(ASS1):c.838+15C>A
|
|
|
|
NM_054012.4(ASS1):c.838+16C>T
|
|
|
|
NM_054012.4(ASS1):c.838+19C>T
|
|
|
|
NM_054012.4(ASS1):c.838+23_838+34del
|
|
|
|
NM_054012.4(ASS1):c.839-19T>C
|
|
|
|
NM_054012.4(ASS1):c.839-2A>T
|
rs2118864015
|
|
|
NM_054012.4(ASS1):c.839-6G>A
|
rs766187530
|
|
|
NM_054012.4(ASS1):c.839-7T>C
|
|
|
|
NM_054012.4(ASS1):c.839G>T (p.Gly280Val)
|
rs754062242
|
|
|
NM_054012.4(ASS1):c.840T>C (p.Gly280=)
|
rs1588503529
|
|
|
NM_054012.4(ASS1):c.846C>A (p.Tyr282Ter)
|
rs549085827
|
|
|
NM_054012.4(ASS1):c.846C>T (p.Tyr282=)
|
rs549085827
|
|
|
NM_054012.4(ASS1):c.853C>T (p.Pro285Ser)
|
|
|
|
NM_054012.4(ASS1):c.867C>T (p.Ile289=)
|
rs2118864084
|
|
|
NM_054012.4(ASS1):c.86A>G (p.Tyr29Cys)
|
rs1457270102
|
|
|
NM_054012.4(ASS1):c.871T>C (p.Tyr291His)
|
|
|
|
NM_054012.4(ASS1):c.882T>C (p.His294=)
|
|
|
|
NM_054012.4(ASS1):c.891C>A (p.Ile297=)
|
|
|
|
NM_054012.4(ASS1):c.894G>A (p.Glu298=)
|
|
|
|
NM_054012.4(ASS1):c.895_896delinsTT (p.Ala299Phe)
|
|
|
|
NM_054012.4(ASS1):c.896C>A (p.Ala299Asp)
|
|
|
|
NM_054012.4(ASS1):c.897C>T (p.Ala299=)
|
|
|
|
NM_054012.4(ASS1):c.8G>A (p.Ser3Asn)
|
rs1845344324
|
|
|
NM_054012.4(ASS1):c.914A>T (p.Glu305Val)
|
rs398123132
|
|
|
NM_054012.4(ASS1):c.918G>A (p.Val306=)
|
rs773089581
|
|
|
NM_054012.4(ASS1):c.919C>A (p.Arg307Ser)
|
rs183276875
|
|
|
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter)
|
rs1301613270
|
|
|
NM_054012.4(ASS1):c.939G>C (p.Leu313=)
|
rs2118864322
|
|
|
NM_054012.4(ASS1):c.942C>G (p.Gly314=)
|
|
|
|
NM_054012.4(ASS1):c.944T>A (p.Leu315Ter)
|
rs2118864334
|
|
|
NM_054012.4(ASS1):c.951del (p.Phe317fs)
|
rs775791516
|
|
|
NM_054012.4(ASS1):c.955G>A (p.Glu319Lys)
|
rs1588503732
|
|
|
NM_054012.4(ASS1):c.958C>T (p.Leu320=)
|
rs2118864362
|
|
|
NM_054012.4(ASS1):c.95_105+4del
|
|
|
|
NM_054012.4(ASS1):c.970+11C>T
|
|
|
|
NM_054012.4(ASS1):c.970+16T>C
|
|
|
|
NM_054012.4(ASS1):c.971-11C>T
|
|
|
|
NM_054012.4(ASS1):c.971-6C>A
|
rs1238011342
|
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
|
NM_054012.4(ASS1):c.978del (p.Trp326fs)
|
rs1057516338
|
|
|
NM_054012.4(ASS1):c.981C>T (p.His327=)
|
|
|
|
NM_054012.4(ASS1):c.983_984insGGTGAATTTG (p.Ser328fs)
|
|
|
|
NM_054012.4(ASS1):c.984C>T (p.Ser328=)
|
rs1213934431
|
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
|
NM_058179.4(PSAT1):c.1002G>A (p.Gly334=)
|
|
|
|
NM_058179.4(PSAT1):c.1007+11C>T
|
|
|
|
NM_058179.4(PSAT1):c.1007+12T>G
|
|
|
|
NM_058179.4(PSAT1):c.1008-16T>C
|
|
|
|
NM_058179.4(PSAT1):c.1008-17A>G
|
|
|
|
NM_058179.4(PSAT1):c.1008-18G>C
|
|
|
|
NM_058179.4(PSAT1):c.1008-20T>A
|
|
|
|
NM_058179.4(PSAT1):c.1008-3T>A
|
rs2118717773
|
|
|
NM_058179.4(PSAT1):c.1008-7A>G
|
|
|
|
NM_058179.4(PSAT1):c.1012G>A (p.Val338Met)
|
rs2118717786
|
|
|
NM_058179.4(PSAT1):c.1020C>T (p.Gly340=)
|
|
|
|
NM_058179.4(PSAT1):c.1021A>G (p.Ile341Val)
|
rs781513295
|
|
|
NM_058179.4(PSAT1):c.1024C>T (p.Arg342Trp)
|
|
|
|
NM_058179.4(PSAT1):c.1026G>A (p.Arg342=)
|
|
|
|
NM_058179.4(PSAT1):c.1033_1034del (p.Leu345fs)
|
rs2118717904
|
|
|
NM_058179.4(PSAT1):c.1050A>G (p.Thr350=)
|
|
|
|
NM_058179.4(PSAT1):c.1051A>G (p.Ile351Val)
|
rs760503466
|
|
|
NM_058179.4(PSAT1):c.1060G>A (p.Val354Ile)
|
rs776369732
|
|
|
NM_058179.4(PSAT1):c.1071G>A (p.Leu357=)
|
|
|
|
NM_058179.4(PSAT1):c.107del (p.Gly36fs)
|
rs587777747
|
|
|
NM_058179.4(PSAT1):c.1088A>T (p.Lys363Ile)
|
rs1417176374
|
|
|
NM_058179.4(PSAT1):c.108C>T (p.Gly36=)
|
|
|
|
NM_058179.4(PSAT1):c.1090T>A (p.Phe364Ile)
|
rs1179781327
|
|
|
NM_058179.4(PSAT1):c.1097A>G (p.Glu366Gly)
|
rs539796298
|
|
|
NM_058179.4(PSAT1):c.1100T>C (p.Met367Thr)
|
|
|
|
NM_058179.4(PSAT1):c.1110A>C (p.Leu370=)
|
|
|
|
NM_058179.4(PSAT1):c.118C>G (p.Leu40Val)
|
rs2118623721
|
|
|
NM_058179.4(PSAT1):c.121+5G>A
|
rs372232840
|
|
|
NM_058179.4(PSAT1):c.122-15T>C
|
|
|
|
NM_058179.4(PSAT1):c.122-1G>C
|
rs772958302
|
|
|
NM_058179.4(PSAT1):c.122-9_122-5del
|
|
|
|
NM_058179.4(PSAT1):c.135G>A (p.Arg45=)
|
|
|
|
NM_058179.4(PSAT1):c.150C>T (p.Ala50=)
|
|
|
|
NM_058179.4(PSAT1):c.155T>C (p.Ile52Thr)
|
rs2118628071
|
|
|
NM_058179.4(PSAT1):c.164A>T (p.Asn55Ile)
|
rs777856520
|
|
|
NM_058179.4(PSAT1):c.175C>G (p.Leu59Val)
|
rs1433777844
|
|
|
NM_058179.4(PSAT1):c.177T>A (p.Leu59=)
|
|
|
|
NM_058179.4(PSAT1):c.178del (p.Val60fs)
|
rs1564012541
|
|
|
NM_058179.4(PSAT1):c.191+20A>G
|
rs2118628355
|
|
|
NM_058179.4(PSAT1):c.191+8T>A
|
|
|
|
NM_058179.4(PSAT1):c.192-16C>G
|
|
|
|
NM_058179.4(PSAT1):c.192-17C>T
|
|
|
|
NM_058179.4(PSAT1):c.198T>A (p.Val66=)
|
rs2118637091
|
|
|
NM_058179.4(PSAT1):c.228del (p.Gly77fs)
|
|
|
|
NM_058179.4(PSAT1):c.233G>T (p.Gly78Val)
|
rs1270171186
|
|
|
NM_058179.4(PSAT1):c.251G>T (p.Ser84Ile)
|
rs1476912688
|
|
|
NM_058179.4(PSAT1):c.260C>A (p.Pro87His)
|
rs772427307
|
|
|
NM_058179.4(PSAT1):c.267C>T (p.Asn89=)
|
|
|
|
NM_058179.4(PSAT1):c.270C>G (p.Leu90=)
|
rs775726256
|
|
|
NM_058179.4(PSAT1):c.293G>A (p.Cys98Tyr)
|
rs776667030
|
|
|
NM_058179.4(PSAT1):c.294T>C (p.Cys98=)
|
|
|
|
NM_058179.4(PSAT1):c.296_297delinsTG (p.Ala99Val)
|
rs1057517807
|
|
|
NM_058179.4(PSAT1):c.297T>A (p.Ala99=)
|
rs3739474
|
|
|
NM_058179.4(PSAT1):c.324A>C (p.Ser108=)
|
|
|
|
NM_058179.4(PSAT1):c.328A>G (p.Lys110Glu)
|
|
|
|
NM_058179.4(PSAT1):c.333C>T (p.Ala111=)
|
|
|
|
NM_058179.4(PSAT1):c.334G>A (p.Ala112Thr)
|
rs753859574
|
|
|
NM_058179.4(PSAT1):c.334G>T (p.Ala112Ser)
|
rs753859574
|
|
|
NM_058179.4(PSAT1):c.348G>C (p.Lys116Asn)
|
rs41277897
|
|
|
NM_058179.4(PSAT1):c.357G>A (p.Gly119=)
|
|
|
|
NM_058179.4(PSAT1):c.357del (p.Thr120fs)
|
|
|
|
NM_058179.4(PSAT1):c.358A>G (p.Thr120Ala)
|
|
|
|
NM_058179.4(PSAT1):c.376C>T (p.Pro126Ser)
|
rs1013336793
|
|
|
NM_058179.4(PSAT1):c.37G>A (p.Gly13Ser)
|
|
|
|
NM_058179.4(PSAT1):c.382C>G (p.Leu128Val)
|
|
|
|
NM_058179.4(PSAT1):c.386G>A (p.Gly129Glu)
|
rs368015309
|
|
|
NM_058179.4(PSAT1):c.395C>G (p.Thr132Arg)
|
rs1564013551
|
|
|
NM_058179.4(PSAT1):c.398-12C>T
|
rs1217607470
|
|
|
NM_058179.4(PSAT1):c.398-19A>G
|
rs1828181631
|
|
|
NM_058179.4(PSAT1):c.407A>C (p.Asp136Ala)
|
rs2118643144
|
|
|
NM_058179.4(PSAT1):c.413del (p.Ser138fs)
|
|
|
|
NM_058179.4(PSAT1):c.425T>G (p.Leu142Arg)
|
|
|
|
NM_058179.4(PSAT1):c.435T>C (p.Asp145=)
|
|
|
|
NM_058179.4(PSAT1):c.43G>A (p.Ala15Thr)
|
rs774962204
|
|
|
NM_058179.4(PSAT1):c.43_60+9del
|
|
|
|
NM_058179.4(PSAT1):c.444C>G (p.Tyr148Ter)
|
rs148598272
|
|
|
NM_058179.4(PSAT1):c.444C>T (p.Tyr148=)
|
|
|
|
NM_058179.4(PSAT1):c.452A>G (p.Tyr151Cys)
|
rs1329274216
|
|
|
NM_058179.4(PSAT1):c.452A>T (p.Tyr151Phe)
|
rs1329274216
|
|
|
NM_058179.4(PSAT1):c.457G>A (p.Ala153Thr)
|
rs199619145
|
|
|
NM_058179.4(PSAT1):c.457G>T (p.Ala153Ser)
|
rs199619145
|
|
|
NM_058179.4(PSAT1):c.473A>G (p.His158Arg)
|
rs2118643515
|
|
|
NM_058179.4(PSAT1):c.481G>A (p.Glu161Lys)
|
rs1828184085
|
|
|
NM_058179.4(PSAT1):c.49C>T (p.Leu17=)
|
|
|
|
NM_058179.4(PSAT1):c.4G>A (p.Asp2Asn)
|
rs547331710
|
|
|
NM_058179.4(PSAT1):c.4G>T (p.Asp2Tyr)
|
rs547331710
|
|
|
NM_058179.4(PSAT1):c.501T>C (p.Asp167=)
|
|
|
|
NM_058179.4(PSAT1):c.502G>A (p.Val168Ile)
|
|
|
|
NM_058179.4(PSAT1):c.510_514del (p.Ala171fs)
|
|
|
|
NM_058179.4(PSAT1):c.543C>T (p.Phe181=)
|
|
|
|
NM_058179.4(PSAT1):c.546G>A (p.Leu182=)
|
rs772396082
|
|
|
NM_058179.4(PSAT1):c.54G>A (p.Pro18=)
|
rs763694865
|
|
|
NM_058179.4(PSAT1):c.54G>T (p.Pro18=)
|
|
|
|
NM_058179.4(PSAT1):c.55C>G (p.His19Asp)
|
rs1057515669
|
|
|
NM_058179.4(PSAT1):c.570+2_570+15del
|
rs2118643983
|
|
|
NM_058179.4(PSAT1):c.570+4G>A
|
|
|
|
NM_058179.4(PSAT1):c.571-11C>G
|
rs1828215906
|
|
|
NM_058179.4(PSAT1):c.571-15C>A
|
|
|
|
NM_058179.4(PSAT1):c.571-1G>A
|
rs1828216198
|
|
|
NM_058179.4(PSAT1):c.571-4dup
|
rs536197677
|
|
|
NM_058179.4(PSAT1):c.589G>C (p.Gly197Arg)
|
|
|
|
NM_058179.4(PSAT1):c.592G>A (p.Ala198Thr)
|
|
|
|
NM_058179.4(PSAT1):c.60+10C>T
|
|
|
|
NM_058179.4(PSAT1):c.60+20C>A
|
rs2118610712
|
|
|
NM_058179.4(PSAT1):c.60+20C>T
|
rs2118610712
|
|
|
NM_058179.4(PSAT1):c.60+9C>G
|
rs2118610658
|
|
|
NM_058179.4(PSAT1):c.600G>A (p.Lys200=)
|
|
|
|
NM_058179.4(PSAT1):c.61-17C>G
|
rs1420720400
|
|
|
NM_058179.4(PSAT1):c.614C>T (p.Ala205Val)
|
|
|
|
NM_058179.4(PSAT1):c.618G>A (p.Gly206=)
|
|
|
|
NM_058179.4(PSAT1):c.624C>G (p.Thr208=)
|
rs140723816
|
|
|
NM_058179.4(PSAT1):c.624C>T (p.Thr208=)
|
|
|
|
NM_058179.4(PSAT1):c.625G>A (p.Val209Met)
|
|
|
|
NM_058179.4(PSAT1):c.645C>T (p.Asp215=)
|
|
|
|
NM_058179.4(PSAT1):c.649C>T (p.Leu217=)
|
|
|
|
NM_058179.4(PSAT1):c.660C>G (p.Ala220=)
|
|
|
|
NM_058179.4(PSAT1):c.669G>A (p.Glu223=)
|
rs2118651074
|
|
|
NM_058179.4(PSAT1):c.679G>T (p.Val227Phe)
|
|
|
|
NM_058179.4(PSAT1):c.687A>G (p.Glu229=)
|
|
|
|
NM_058179.4(PSAT1):c.704G>T (p.Gly235Val)
|
rs1828219128
|
|
|
NM_058179.4(PSAT1):c.713C>G (p.Ser238Cys)
|
|
|
|
NM_058179.4(PSAT1):c.720C>T (p.Tyr240=)
|
rs2118651460
|
|
|
NM_058179.4(PSAT1):c.726G>T (p.Thr242=)
|
|
|
|
NM_058179.4(PSAT1):c.731C>T (p.Pro244Leu)
|
rs1240087899
|
|
|
NM_058179.4(PSAT1):c.741-18_741-17delinsAC
|
rs2118681211
|
|
|
NM_058179.4(PSAT1):c.741-19_741-18insA
|
|
|
|
NM_058179.4(PSAT1):c.741-3T>A
|
rs1291018374
|
|
|
NM_058179.4(PSAT1):c.741-7A>C
|
rs747801091
|
|
|
NM_058179.4(PSAT1):c.741-7A>G
|
rs747801091
|
|
|
NM_058179.4(PSAT1):c.741-8C>G
|
|
|
|
NM_058179.4(PSAT1):c.745T>C (p.Tyr249His)
|
|
|
|
NM_058179.4(PSAT1):c.747C>T (p.Tyr249=)
|
|
|
|
NM_058179.4(PSAT1):c.749T>C (p.Val250Ala)
|
rs572302367
|
|
|
NM_058179.4(PSAT1):c.762T>C (p.Val254=)
|
|
|
|
NM_058179.4(PSAT1):c.76C>T (p.Gln26Ter)
|
|
|
|
NM_058179.4(PSAT1):c.770G>A (p.Trp257Ter)
|
|
|
|
NM_058179.4(PSAT1):c.777A>T (p.Lys259Asn)
|
rs2118681412
|
|
|
NM_058179.4(PSAT1):c.7G>A (p.Ala3Thr)
|
rs776757559
|
|
|
NM_058179.4(PSAT1):c.7G>T (p.Ala3Ser)
|
rs776757559
|
|
|
NM_058179.4(PSAT1):c.800T>C (p.Met267Thr)
|
|
|
|
NM_058179.4(PSAT1):c.80A>G (p.Lys27Arg)
|
rs199858132
|
|
|
NM_058179.4(PSAT1):c.816C>T (p.Ser272=)
|
|
|
|
NM_058179.4(PSAT1):c.82_83del (p.Glu28fs)
|
|
|
|
NM_058179.4(PSAT1):c.831A>G (p.Thr277=)
|
rs1462773959
|
|
|
NM_058179.4(PSAT1):c.835T>C (p.Tyr279His)
|
rs2118681747
|
|
|
NM_058179.4(PSAT1):c.838G>T (p.Glu280Ter)
|
rs2118681775
|
|
|
NM_058179.4(PSAT1):c.861A>T (p.Gly287=)
|
|
|
|
NM_058179.4(PSAT1):c.865T>C (p.Tyr289His)
|
rs1828370943
|
|
|
NM_058179.4(PSAT1):c.866A>G (p.Tyr289Cys)
|
|
|
|
NM_058179.4(PSAT1):c.868G>T (p.Val290Phe)
|
rs200049723
|
|
|
NM_058179.4(PSAT1):c.869+11G>A
|
|
|
|
NM_058179.4(PSAT1):c.869+12G>C
|
|
|
|
NM_058179.4(PSAT1):c.869+17dup
|
rs2118682102
|
|
|
NM_058179.4(PSAT1):c.869+8A>C
|
|
|
|
NM_058179.4(PSAT1):c.870-15A>G
|
|
|
|
NM_058179.4(PSAT1):c.892A>T (p.Arg298Ter)
|
|
|
|
NM_058179.4(PSAT1):c.905A>G (p.Asn302Ser)
|
rs1828527111
|
|
|
NM_058179.4(PSAT1):c.912A>G (p.Pro304=)
|
|
|
|
NM_058179.4(PSAT1):c.92A>G (p.Asp31Gly)
|
|
|
|
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)
|
|
|
|
NM_058179.4(PSAT1):c.957A>G (p.Arg319=)
|
|
|
|
NM_058179.4(PSAT1):c.99A>G (p.Lys33=)
|
|
|
|
NM_058179.4(PSAT1):c.9C>T (p.Ala3=)
|
rs2118610369
|
|
|
NM_145261.4(DNAJC19):c.111T>C (p.Phe37=)
|
|
|
|
NM_145261.4(DNAJC19):c.120A>T (p.Leu40=)
|
|
|
|
NM_145261.4(DNAJC19):c.121_126del (p.Pro41_Lys42del)
|
|
|
|
NM_145261.4(DNAJC19):c.129+7C>T
|
rs2108509597
|
|
|
NM_145261.4(DNAJC19):c.130-4T>C
|
|
|
|
NM_145261.4(DNAJC19):c.136A>G (p.Ser46Gly)
|
|
|
|
NM_145261.4(DNAJC19):c.145T>C (p.Tyr49His)
|
|
|
|
NM_145261.4(DNAJC19):c.150T>C (p.Tyr50=)
|
|
|
|
NM_145261.4(DNAJC19):c.159G>C (p.Gly53=)
|
|
|
|
NM_145261.4(DNAJC19):c.198A>G (p.Ile66Met)
|
|
|
|
NM_145261.4(DNAJC19):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_145261.4(DNAJC19):c.203G>T (p.Gly68Val)
|
rs2108508819
|
|
|
NM_145261.4(DNAJC19):c.209+11C>T
|
rs374496383
|
|
|
NM_145261.4(DNAJC19):c.209+19T>C
|
|
|
|
NM_145261.4(DNAJC19):c.210-12T>A
|
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-11del
|
|
|
|
NM_145261.4(DNAJC19):c.210-14_210-13del
|
rs757422860
|
|
|
NM_145261.4(DNAJC19):c.210-18A>G
|
|
|
|
NM_145261.4(DNAJC19):c.210-2A>G
|
|
|
|
NM_145261.4(DNAJC19):c.210-4T>C
|
|
|
|
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.221A>G (p.Asn74Ser)
|
rs1218208437
|
|
|
NM_145261.4(DNAJC19):c.226G>A (p.Gly76Arg)
|
|
|
|
NM_145261.4(DNAJC19):c.246T>A (p.His82Gln)
|
|
|
|
NM_145261.4(DNAJC19):c.250C>T (p.Arg84Ter)
|
|
|
|
NM_145261.4(DNAJC19):c.251G>A (p.Arg84Gln)
|
|
|
|
NM_145261.4(DNAJC19):c.259C>T (p.Leu87Phe)
|
rs1714880831
|
|
|
NM_145261.4(DNAJC19):c.280+15A>C
|
|
|
|
NM_145261.4(DNAJC19):c.280+19C>A
|
rs1203314065
|
|
|
NM_145261.4(DNAJC19):c.280+1_280+5del
|
rs753055824
|
|
|
NM_145261.4(DNAJC19):c.280+4_280+7del
|
|
|
|
NM_145261.4(DNAJC19):c.281-15T>G
|
|
|
|
NM_145261.4(DNAJC19):c.281-15dup
|
rs764813798
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-19del
|
|
|
|
NM_145261.4(DNAJC19):c.281-21_281-20del
|
|
|
|
NM_145261.4(DNAJC19):c.281-4A>G
|
|
|
|
NM_145261.4(DNAJC19):c.281-5T>A
|
rs766954639
|
|
|
NM_145261.4(DNAJC19):c.288T>G (p.Ser96=)
|
rs2108506993
|
|
|
NM_145261.4(DNAJC19):c.294T>C (p.Tyr98=)
|
|
|
|
NM_145261.4(DNAJC19):c.295dup (p.Ile99fs)
|
|
|
|
NM_145261.4(DNAJC19):c.2T>C (p.Met1Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.3+13T>C
|
rs2108511019
|
|
|
NM_145261.4(DNAJC19):c.316G>A (p.Ala106Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.325T>G (p.Leu109Val)
|
rs2108506959
|
|
|
NM_145261.4(DNAJC19):c.32C>T (p.Thr11Ile)
|
rs1715007911
|
|
|
NM_145261.4(DNAJC19):c.331G>A (p.Glu111Lys)
|
|
|
|
NM_145261.4(DNAJC19):c.332A>C (p.Glu111Ala)
|
|
|
|
NM_145261.4(DNAJC19):c.333A>G (p.Glu111=)
|
|
|
|
NM_145261.4(DNAJC19):c.348del (p.Lys116fs)
|
rs1714802157
|
|
|
NM_145261.4(DNAJC19):c.4-1G>A
|
rs878852999
|
|
|
NM_145261.4(DNAJC19):c.4-24_15del
|
|
|
|
NM_145261.4(DNAJC19):c.41C>T (p.Ala14Val)
|
|
|
|
NM_145261.4(DNAJC19):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_145261.4(DNAJC19):c.51del (p.Phe17fs)
|
rs1715007577
|
|
|
NM_145261.4(DNAJC19):c.55+10T>C
|
|
|
|
NM_145261.4(DNAJC19):c.55+1G>A
|
rs2108509746
|
|
|
NM_145261.4(DNAJC19):c.55+20A>T
|
rs1577025780
|
|
|
NM_145261.4(DNAJC19):c.55+5G>C
|
rs1454974888
|
|
|
NM_145261.4(DNAJC19):c.56-17G>C
|
|
|
|
NM_145261.4(DNAJC19):c.56-7G>T
|
|
|
|
NM_145261.4(DNAJC19):c.57C>T (p.Gly19=)
|
|
|
|
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)
|
rs145786060
|
|
|
NM_145261.4(DNAJC19):c.63C>T (p.Tyr21=)
|
rs145786060
|
|
|
NM_145261.4(DNAJC19):c.63del (p.Arg20_Tyr21insTer)
|
rs2108509666
|
|
|
NM_145261.4(DNAJC19):c.64G>A (p.Val22Ile)
|
|
|
|
NM_145261.4(DNAJC19):c.73G>A (p.Ala25Thr)
|
rs2108509645
|
|
|
NM_145261.4(DNAJC19):c.84T>C (p.His28=)
|
|
|
|
NM_152419.3(HGSNAT):c.1005T>A (p.Leu335=)
|
|
|
|
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys)
|
rs2130766732
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1012+14C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1012+15C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1012+19T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1012+7A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1012+7dup
|
|
|
|
NM_152419.3(HGSNAT):c.1012+8C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1012+8del
|
rs2130766762
|
|
|
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
|
|
|
|
NM_152419.3(HGSNAT):c.1013-12T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1013-15_1013-14del
|
|
|
|
NM_152419.3(HGSNAT):c.1013-1G>C
|
rs1804147747
|
|
|
NM_152419.3(HGSNAT):c.1013-20C>T
|
rs1804147010
|
|
|
NM_152419.3(HGSNAT):c.1013-4G>A
|
rs1260943762
|
|
|
NM_152419.3(HGSNAT):c.1013-9C>G
|
rs2130783567
|
|
|
NM_152419.3(HGSNAT):c.1026G>A (p.Lys342=)
|
|
|
|
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
|
|
|
|
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
|
rs1276314637
|
|
|
NM_152419.3(HGSNAT):c.102G>A (p.Gln34=)
|
|
|
|
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val)
|
rs2130783652
|
|
|
NM_152419.3(HGSNAT):c.1034_1049del (p.Ile345fs)
|
rs2130783645
|
|
|
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)
|
rs1318217031
|
|
|
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)
|
rs752939204
|
|
|
NM_152419.3(HGSNAT):c.1050G>A (p.Gln350=)
|
rs2130783705
|
|
|
NM_152419.3(HGSNAT):c.1051C>A (p.Arg351=)
|
|
|
|
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
|
rs756420301
|
|
|
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
|
rs1299209150
|
|
|
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
|
rs1299209150
|
|
|
NM_152419.3(HGSNAT):c.1054T>C (p.Leu352=)
|
|
|
|
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer)
|
rs2130783742
|
|
|
NM_152419.3(HGSNAT):c.105C>G (p.Ala35=)
|
|
|
|
NM_152419.3(HGSNAT):c.105C>T (p.Ala35=)
|
|
|
|
NM_152419.3(HGSNAT):c.1062G>A (p.Val354=)
|
|
|
|
NM_152419.3(HGSNAT):c.1065A>T (p.Thr355=)
|
|
|
|
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu)
|
rs2130783774
|
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
|
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1089G>A (p.Glu363=)
|
|
|
|
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=)
|
rs886062952
|
|
|
NM_152419.3(HGSNAT):c.1095C>T (p.Leu365=)
|
|
|
|
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
|
|
|
|
NM_152419.3(HGSNAT):c.1101T>C (p.Ala367=)
|
|
|
|
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter)
|
rs954238515
|
|
|
NM_152419.3(HGSNAT):c.1104A>G (p.Lys368=)
|
|
|
|
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg)
|
rs2130783868
|
|
|
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)
|
rs1465935790
|
|
|
NM_152419.3(HGSNAT):c.1110G>C (p.Val370=)
|
|
|
|
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
|
rs1804152812
|
|
|
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
|
rs781052651
|
|
|
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)
|
rs1802484500
|
|
|
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
|
rs987062801
|
|
|
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
|
rs987062801
|
|
|
NM_152419.3(HGSNAT):c.1128+11A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1128+13G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1128+14T>A
|
|
|
|
NM_152419.3(HGSNAT):c.1128+16T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1128+9C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
|
rs770462636
|
|
|
NM_152419.3(HGSNAT):c.1129-10C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1129-7C>A
|
rs756262049
|
|
|
NM_152419.3(HGSNAT):c.1129-7dup
|
|
|
|
NM_152419.3(HGSNAT):c.1129-9C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp)
|
rs2130805062
|
|
|
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1139del (p.Cys380fs)
|
|
|
|
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
|
rs377486419
|
|
|
NM_152419.3(HGSNAT):c.1153_1154insCTGG (p.Asp385fs)
|
|
|
|
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
|
|
|
|
NM_152419.3(HGSNAT):c.1158C>T (p.Ile386=)
|
|
|
|
NM_152419.3(HGSNAT):c.115C>A (p.Arg39=)
|
|
|
|
NM_152419.3(HGSNAT):c.1161G>T (p.Thr387=)
|
rs761414980
|
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
|
NM_152419.3(HGSNAT):c.1173C>T (p.Pro391=)
|
rs1563381683
|
|
|
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter)
|
rs1804527418
|
|
|
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu)
|
rs772905027
|
|
|
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)
|
rs1802484828
|
|
|
NM_152419.3(HGSNAT):c.118+10C>T
|
rs768117824
|
|
|
NM_152419.3(HGSNAT):c.118+11A>C
|
|
|
|
NM_152419.3(HGSNAT):c.118+11A>G
|
|
|
|
NM_152419.3(HGSNAT):c.118+12C>G
|
rs1408305187
|
|
|
NM_152419.3(HGSNAT):c.118+12C>T
|
|
|
|
NM_152419.3(HGSNAT):c.118+13C>A
|
|
|
|
NM_152419.3(HGSNAT):c.118+13C>G
|
|
|
|
NM_152419.3(HGSNAT):c.118+13C>T
|
|
|
|
NM_152419.3(HGSNAT):c.118+16C>G
|
rs1457633859
|
|
|
NM_152419.3(HGSNAT):c.118+16C>T
|
|
|
|
NM_152419.3(HGSNAT):c.118+18A>C
|
|
|
|
NM_152419.3(HGSNAT):c.118+18A>G
|
|
|
|
NM_152419.3(HGSNAT):c.118+19C>T
|
|
|
|
NM_152419.3(HGSNAT):c.118+20C>G
|
rs1802485942
|
|
|
NM_152419.3(HGSNAT):c.118+20C>T
|
rs1802485942
|
|
|
NM_152419.3(HGSNAT):c.118+2T>C
|
rs2130648749
|
|
|
NM_152419.3(HGSNAT):c.118+5G>A
|
rs1174944521
|
|
|
NM_152419.3(HGSNAT):c.118+7G>A
|
rs1298192155
|
|
|
NM_152419.3(HGSNAT):c.118+7G>C
|
|
|
|
NM_152419.3(HGSNAT):c.118+8C>G
|
rs2130648798
|
|
|
NM_152419.3(HGSNAT):c.118+8C>T
|
rs2130648798
|
|
|
NM_152419.3(HGSNAT):c.118+9A>C
|
|
|
|
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met)
|
rs1335612982
|
|
|
NM_152419.3(HGSNAT):c.1182G>A (p.Leu394=)
|
|
|
|
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
|
rs1218241477
|
|
|
NM_152419.3(HGSNAT):c.1185C>T (p.Leu395=)
|
|
|
|
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
|
|
|
|
NM_152419.3(HGSNAT):c.119-12A>G
|
|
|
|
NM_152419.3(HGSNAT):c.119-5A>G
|
rs756141376
|
|
|
NM_152419.3(HGSNAT):c.119-9T>C
|
rs1346109871
|
|
|
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
|
rs1563381716
|
|
|
NM_152419.3(HGSNAT):c.1195C>T (p.Leu399=)
|
|
|
|
NM_152419.3(HGSNAT):c.1221A>G (p.Thr407=)
|
|
|
|
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.1227C>T (p.Leu409=)
|
rs2130805422
|
|
|
NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)
|
|
|
|
NM_152419.3(HGSNAT):c.1230G>T (p.Leu410=)
|
rs1356136152
|
|
|
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala)
|
rs201346206
|
|
|
NM_152419.3(HGSNAT):c.1245C>A (p.Cys415Ter)
|
rs375616017
|
|
|
NM_152419.3(HGSNAT):c.1248T>C (p.Pro416=)
|
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1250+10C>T
|
rs2130805528
|
|
|
NM_152419.3(HGSNAT):c.1250+12C>T
|
rs1804532623
|
|
|
NM_152419.3(HGSNAT):c.1250+14T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1250+15G>C
|
|
|
|
NM_152419.3(HGSNAT):c.1250+16G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1250+17G>T
|
|
|
|
NM_152419.3(HGSNAT):c.1250+18G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1250+19dup
|
|
|
|
NM_152419.3(HGSNAT):c.1250+7G>C
|
rs74795999
|
|
|
NM_152419.3(HGSNAT):c.1251-12del
|
|
|
|
NM_152419.3(HGSNAT):c.1251-14T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1251-4C>G
|
|
|
|
NM_152419.3(HGSNAT):c.1251-6T>C
|
rs2130807215
|
|
|
NM_152419.3(HGSNAT):c.1251-8C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1251-9C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
|
rs1220333666
|
|
|
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
|
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp)
|
rs2130807313
|
|
|
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
|
rs1804565177
|
|
|
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=)
|
rs1586751999
|
|
|
NM_152419.3(HGSNAT):c.127A>T (p.Lys43Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.1281T>C (p.Asp427=)
|
|
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
|
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
|
|
|
|
NM_152419.3(HGSNAT):c.1299T>C (p.Asn433=)
|
rs2130807411
|
|
|
NM_152419.3(HGSNAT):c.12G>C (p.Ala4=)
|
rs1018475767
|
|
|
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
|
rs1018475767
|
|
|
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=)
|
rs776703067
|
|
|
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
|
rs1804567846
|
|
|
NM_152419.3(HGSNAT):c.1323C>A (p.Tyr441Ter)
|
rs1804568176
|
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
|
rs2130677148
|
|
|
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly)
|
rs763301637
|
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
|
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
|
rs2130807561
|
|
|
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)
|
rs1220771600
|
|
|
NM_152419.3(HGSNAT):c.1344A>G (p.Gly448=)
|
|
|
|
NM_152419.3(HGSNAT):c.1353C>T (p.His451=)
|
|
|
|
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del)
|
|
|
|
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter)
|
rs1057518644
|
|
|
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
|
rs947648591
|
|
|
NM_152419.3(HGSNAT):c.1377+11C>G
|
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1377+13C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1377+14G>C
|
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1377+15A>T
|
|
|
|
NM_152419.3(HGSNAT):c.1377+7G>A
|
rs1225445756
|
|
|
NM_152419.3(HGSNAT):c.1377+9G>C
|
rs2130807739
|
|
|
NM_152419.3(HGSNAT):c.1378-13T>G
|
rs2130810544
|
|
|
NM_152419.3(HGSNAT):c.1378-17T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1378-2A>G
|
rs2130810560
|
|
|
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)
|
rs2130677199
|
|
|
NM_152419.3(HGSNAT):c.1380A>T (p.Val460=)
|
|
|
|
NM_152419.3(HGSNAT):c.138T>C (p.His46=)
|
|
|
|
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
|
rs767972481
|
|
|
NM_152419.3(HGSNAT):c.1392C>G (p.Thr464=)
|
rs767972481
|
|
|
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met)
|
rs1414923802
|
|
|
NM_152419.3(HGSNAT):c.1401C>G (p.Ala467=)
|
|
|
|
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
|
rs1337915028
|
|
|
NM_152419.3(HGSNAT):c.1401del (p.Tyr468fs)
|
|
|
|
NM_152419.3(HGSNAT):c.1404T>C (p.Tyr468=)
|
|
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
|
NM_152419.3(HGSNAT):c.1416C>T (p.Gly472=)
|
|
|
|
NM_152419.3(HGSNAT):c.1419C>T (p.Ile473=)
|
|
|
|
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
|
rs1804620596
|
|
|
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)
|
rs1182131036
|
|
|
NM_152419.3(HGSNAT):c.1431C>T (p.Ile477=)
|
|
|
|
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
|
rs759057396
|
|
|
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
|
rs2130677225
|
|
|
NM_152419.3(HGSNAT):c.1452T>C (p.Phe484=)
|
|
|
|
NM_152419.3(HGSNAT):c.1453T>C (p.Leu485=)
|
|
|
|
NM_152419.3(HGSNAT):c.1455A>G (p.Leu485=)
|
|
|
|
NM_152419.3(HGSNAT):c.1464+10C>A
|
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>C
|
|
|
|
NM_152419.3(HGSNAT):c.1464+11A>G
|
rs573124827
|
|
|
NM_152419.3(HGSNAT):c.1464+14_1464+18del
|
|
|
|
NM_152419.3(HGSNAT):c.1464+17T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1464+1del
|
rs2130810933
|
|
|
NM_152419.3(HGSNAT):c.1464+9T>A
|
rs1804623128
|
|
|
NM_152419.3(HGSNAT):c.1465-10T>C
|
rs1804745819
|
|
|
NM_152419.3(HGSNAT):c.1465-15T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1465-16G>A
|
rs2130819513
|
|
|
NM_152419.3(HGSNAT):c.1465-17T>A
|
rs764680385
|
|
|
NM_152419.3(HGSNAT):c.1465-18C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1465-19del
|
|
|
|
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA
|
|
|
|
NM_152419.3(HGSNAT):c.1465-5T>C
|
rs2130819538
|
|
|
NM_152419.3(HGSNAT):c.1465-6C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1465-7C>T
|
rs2130819532
|
|
|
NM_152419.3(HGSNAT):c.1465-9C>T
|
rs2130819526
|
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
|
NM_152419.3(HGSNAT):c.1473A>G (p.Lys491=)
|
rs2130819577
|
|
|
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
|
rs1804746503
|
|
|
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
|
rs751229126
|
|
|
NM_152419.3(HGSNAT):c.1480T>C (p.Leu494=)
|
|
|
|
NM_152419.3(HGSNAT):c.1485T>C (p.Tyr495=)
|
|
|
|
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
|
|
|
|
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs)
|
rs2130819661
|
|
|
NM_152419.3(HGSNAT):c.150del (p.Met51fs)
|
rs1802737867
|
|
|
NM_152419.3(HGSNAT):c.1510C>T (p.Leu504=)
|
|
|
|
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
|
rs1280407859
|
|
|
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
|
|
|
|
NM_152419.3(HGSNAT):c.1533T>C (p.Cys511=)
|
|
|
|
NM_152419.3(HGSNAT):c.1536T>C (p.Cys512=)
|
|
|
|
NM_152419.3(HGSNAT):c.1542+12G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>G
|
|
|
|
NM_152419.3(HGSNAT):c.1543-10C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1543-11C>A
|
rs1191230075
|
|
|
NM_152419.3(HGSNAT):c.1543-12T>G
|
rs768881526
|
|
|
NM_152419.3(HGSNAT):c.1543-16C>T
|
rs2130821050
|
|
|
NM_152419.3(HGSNAT):c.1543-19C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG
|
rs2130821034
|
|
|
NM_152419.3(HGSNAT):c.1543-2A>G
|
rs1804769861
|
|
|
NM_152419.3(HGSNAT):c.1543-5T>G
|
|
|
|
NM_152419.3(HGSNAT):c.1545G>T (p.Gly515=)
|
|
|
|
NM_152419.3(HGSNAT):c.1548C>T (p.Leu516=)
|
|
|
|
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
|
rs1802738082
|
|
|
NM_152419.3(HGSNAT):c.1557T>C (p.Val519=)
|
rs2130821179
|
|
|
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
|
rs541318695
|
|
|
NM_152419.3(HGSNAT):c.1566G>A (p.Thr522=)
|
|
|
|
NM_152419.3(HGSNAT):c.1566G>C (p.Thr522=)
|
|
|
|
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile)
|
rs2130821294
|
|
|
NM_152419.3(HGSNAT):c.1610del (p.Leu537fs)
|
rs2130821307
|
|
|
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.1613+5G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1613+8T>C
|
rs2130821361
|
|
|
NM_152419.3(HGSNAT):c.1614-11A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1614-13C>T
|
rs2130821520
|
|
|
NM_152419.3(HGSNAT):c.1614-16C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1614-18C>G
|
|
|
|
NM_152419.3(HGSNAT):c.1614-1G>C
|
|
|
|
NM_152419.3(HGSNAT):c.1614-20G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1614-2A>T
|
rs1554537807
|
|
|
NM_152419.3(HGSNAT):c.1614-5C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>A
|
|
|
|
NM_152419.3(HGSNAT):c.1614-6T>C
|
rs935366032
|
|
|
NM_152419.3(HGSNAT):c.1614-7C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1614-9C>T
|
rs2130821536
|
|
|
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
|
rs1372286994
|
|
|
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
|
rs767625503
|
|
|
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=)
|
rs767625503
|
|
|
NM_152419.3(HGSNAT):c.1621T>A (p.Ser541Thr)
|
rs2130821593
|
|
|
NM_152419.3(HGSNAT):c.1626T>C (p.Tyr542=)
|
|
|
|
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
|
rs1310490354
|
|
|
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)
|
rs377050184
|
|
|
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=)
|
rs775897635
|
|
|
NM_152419.3(HGSNAT):c.1635G>C (p.Thr545=)
|
rs775897635
|
|
|
NM_152419.3(HGSNAT):c.1638C>A (p.Leu546=)
|
rs2130821674
|
|
|
NM_152419.3(HGSNAT):c.1641T>C (p.Ser547=)
|
|
|
|
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
|
rs1804778997
|
|
|
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=)
|
rs1586758163
|
|
|
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter)
|
rs1586698317
|
|
|
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=)
|
rs1586758179
|
|
|
NM_152419.3(HGSNAT):c.1671G>A (p.Leu557=)
|
rs369681926
|
|
|
NM_152419.3(HGSNAT):c.1674C>G (p.Tyr558Ter)
|
rs1554537841
|
|
|
NM_152419.3(HGSNAT):c.1677A>G (p.Pro559=)
|
rs2130821776
|
|
|
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
|
rs2130821797
|
|
|
NM_152419.3(HGSNAT):c.168A>T (p.Leu56=)
|
|
|
|
NM_152419.3(HGSNAT):c.1691dup (p.Leu566fs)
|
|
|
|
NM_152419.3(HGSNAT):c.1692G>A (p.Lys564=)
|
|
|
|
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)
|
rs1804781641
|
|
|
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
|
rs1804781951
|
|
|
NM_152419.3(HGSNAT):c.1707A>G (p.Gly569=)
|
|
|
|
NM_152419.3(HGSNAT):c.1710C>A (p.Thr570=)
|
rs1469124590
|
|
|
NM_152419.3(HGSNAT):c.1710C>T (p.Thr570=)
|
rs1469124590
|
|
|
NM_152419.3(HGSNAT):c.1713A>T (p.Pro571=)
|
|
|
|
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
|
|
|
|
NM_152419.3(HGSNAT):c.171C>T (p.Leu57=)
|
|
|
|
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
|
rs1177263214
|
|
|
NM_152419.3(HGSNAT):c.1722T>C (p.Tyr574=)
|
|
|
|
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
|
|
|
|
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
|
rs754143732
|
|
|
NM_152419.3(HGSNAT):c.1726+10C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1726+13C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1726+14A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>C
|
|
|
|
NM_152419.3(HGSNAT):c.1726+15A>G
|
|
|
|
NM_152419.3(HGSNAT):c.1726+17C>T
|
rs2130822028
|
|
|
NM_152419.3(HGSNAT):c.1726+18T>G
|
|
|
|
NM_152419.3(HGSNAT):c.1726+1G>A
|
|
|
|
NM_152419.3(HGSNAT):c.1726+22dup
|
rs755106287
|
|
|
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg)
|
rs1366558211
|
|
|
NM_152419.3(HGSNAT):c.1727-11C>G
|
rs1370309387
|
|
|
NM_152419.3(HGSNAT):c.1727-11C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1727-14TC[3]
|
rs1804842925
|
|
|
NM_152419.3(HGSNAT):c.1727-15G>A
|
rs2130825457
|
|
|
NM_152419.3(HGSNAT):c.1727-17A>T
|
rs780686580
|
|
|
NM_152419.3(HGSNAT):c.1727-19G>A
|
rs369322408
|
|
|
NM_152419.3(HGSNAT):c.1727-19G>C
|
rs369322408
|
|
|
NM_152419.3(HGSNAT):c.1727-20T>C
|
|
|
|
NM_152419.3(HGSNAT):c.1727-3A>C
|
|
|
|
NM_152419.3(HGSNAT):c.1727-4dup
|
|
|
|
NM_152419.3(HGSNAT):c.1727-5T>A
|
|
|
|
NM_152419.3(HGSNAT):c.1727-9C>T
|
|
|
|
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
|
|
|
|
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.1746A>G (p.Val582=)
|
|
|
|
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)
|
rs749911696
|
|
|
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)
|
|
|
|
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg)
|
rs376476836
|
|
|
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
|
rs2130825582
|
|
|
NM_152419.3(HGSNAT):c.1758C>T (p.His586=)
|
rs1420418918
|
|
|
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
|
|
|
|
NM_152419.3(HGSNAT):c.1764G>A (p.Val588=)
|
rs765645520
|
|
|
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
|
rs1804845888
|
|
|
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.1776C>T (p.Tyr592=)
|
|
|
|
NM_152419.3(HGSNAT):c.1782C>G (p.Pro594=)
|
|
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
|
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
|
rs750824770
|
|
|
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly)
|
|
|
|
NM_152419.3(HGSNAT):c.1794G>A (p.Lys598=)
|
|
|
|
NM_152419.3(HGSNAT):c.1795C>T (p.Leu599=)
|
|
|
|
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
|
rs928930218
|
|
|
NM_152419.3(HGSNAT):c.1800G>A (p.Lys600=)
|
|
|
|
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
|
|
|
|
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
|
rs752160921
|
|
|
NM_152419.3(HGSNAT):c.1806C>T (p.Asn602=)
|
|
|
|
NM_152419.3(HGSNAT):c.180T>C (p.Asn60=)
|
|
|
|
NM_152419.3(HGSNAT):c.1818G>A (p.Lys606=)
|
|
|
|
NM_152419.3(HGSNAT):c.1824C>T (p.His608=)
|
rs2130825787
|
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
|
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
|
|
|
|
NM_152419.3(HGSNAT):c.183A>G (p.Glu61=)
|
rs2130677470
|
|
|
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
|
rs374563604
|
|
|
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
|
rs768575788
|
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
|
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val)
|
rs2130825945
|
|
|
NM_152419.3(HGSNAT):c.186T>A (p.Leu62=)
|
|
|
|
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=)
|
rs1239460572
|
|
|
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
|
|
|
|
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
|
rs946476629
|
|
|
NM_152419.3(HGSNAT):c.1878C>A (p.Leu626=)
|
|
|
|
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
|
|
|
|
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
|
rs1804852352
|
|
|
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del)
|
rs778163262
|
|
|
NM_152419.3(HGSNAT):c.1890G>A (p.Lys630=)
|
|
|
|
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr)
|
|
|
|
NM_152419.3(HGSNAT):c.18G>A (p.Arg6=)
|
|
|
|
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr)
|
rs2130826037
|
|
|
NM_152419.3(HGSNAT):c.195C>T (p.Thr65=)
|
rs1307220758
|
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
|
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=)
|
rs199816365
|
|
|
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
|
rs2130677640
|
|
|
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)
|
|
|
|
NM_152419.3(HGSNAT):c.21G>A (p.Ala7=)
|
rs1297145817
|
|
|
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
|
rs1802741553
|
|
|
NM_152419.3(HGSNAT):c.234+10A>C
|
|
|
|
NM_152419.3(HGSNAT):c.234+18C>T
|
rs1802743016
|
|
|
NM_152419.3(HGSNAT):c.234+20C>G
|
|
|
|
NM_152419.3(HGSNAT):c.234+20C>T
|
|
|
|
NM_152419.3(HGSNAT):c.234+5G>A
|
|
|
|
NM_152419.3(HGSNAT):c.234+8T>A
|
rs1205007842
|
|
|
NM_152419.3(HGSNAT):c.235-13C>G
|
rs2130713714
|
|
|
NM_152419.3(HGSNAT):c.235-16G>T
|
|
|
|
NM_152419.3(HGSNAT):c.235-18T>C
|
|
|
|
NM_152419.3(HGSNAT):c.235-19G>A
|
|
|
|
NM_152419.3(HGSNAT):c.235-19G>C
|
|
|
|
NM_152419.3(HGSNAT):c.235-4A>G
|
rs2130713747
|
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
|
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
|
rs1803164820
|
|
|
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
|
rs774674978
|
|
|
NM_152419.3(HGSNAT):c.244C>T (p.Gln82Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
|
rs2130713807
|
|
|
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.255A>G (p.Val85=)
|
|
|
|
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)
|
rs2130713856
|
|
|
NM_152419.3(HGSNAT):c.261T>C (p.Val87=)
|
rs1461875540
|
|
|
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_152419.3(HGSNAT):c.264T>C (p.Pro88=)
|
rs2130713884
|
|
|
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
|
rs1803166332
|
|
|
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
|
rs2130713942
|
|
|
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
|
rs372055513
|
|
|
NM_152419.3(HGSNAT):c.279A>G (p.Ala93=)
|
rs766369405
|
|
|
NM_152419.3(HGSNAT):c.27C>A (p.Ala9=)
|
rs1802478612
|
|
|
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
|
rs374071098
|
|
|
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
|
rs374071098
|
|
|
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.291T>C (p.Ser97=)
|
rs777514582
|
|
|
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
|
rs2130714083
|
|
|
NM_152419.3(HGSNAT):c.300T>C (p.Ala100=)
|
rs2130714138
|
|
|
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
|
|
|
|
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
|
rs772490276
|
|
|
NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)
|
|
|
|
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn)
|
rs1586712145
|
|
|
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
|
rs1586712156
|
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
|
NM_152419.3(HGSNAT):c.331C>T (p.Leu111=)
|
rs2130714335
|
|
|
NM_152419.3(HGSNAT):c.333G>T (p.Leu111=)
|
|
|
|
NM_152419.3(HGSNAT):c.345C>T (p.Asp115=)
|
rs2130714421
|
|
|
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
|
|
|
|
NM_152419.3(HGSNAT):c.34C>T (p.Leu12=)
|
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
|
NM_152419.3(HGSNAT):c.357G>A (p.Glu119=)
|
|
|
|
NM_152419.3(HGSNAT):c.371+11G>C
|
|
|
|
NM_152419.3(HGSNAT):c.371+16G>C
|
|
|
|
NM_152419.3(HGSNAT):c.371+17T>C
|
|
|
|
NM_152419.3(HGSNAT):c.371+5G>T
|
|
|
|
NM_152419.3(HGSNAT):c.371+8C>T
|
rs1803172839
|
|
|
NM_152419.3(HGSNAT):c.371+9C>T
|
rs1180753142
|
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
|
NM_152419.3(HGSNAT):c.372-11A>T
|
|
|
|
NM_152419.3(HGSNAT):c.372-12T>C
|
|
|
|
NM_152419.3(HGSNAT):c.372-13C>T
|
|
|
|
NM_152419.3(HGSNAT):c.372-4G>T
|
|
|
|
NM_152419.3(HGSNAT):c.372-8G>A
|
rs2130715102
|
|
|
NM_152419.3(HGSNAT):c.372-9T>C
|
|
|
|
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=)
|
rs2130715134
|
|
|
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)
|
rs1803180587
|
|
|
NM_152419.3(HGSNAT):c.378A>G (p.Glu126=)
|
|
|
|
NM_152419.3(HGSNAT):c.37C>T (p.Leu13=)
|
rs2130647858
|
|
|
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
|
rs1803180920
|
|
|
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu)
|
rs932582298
|
|
|
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
|
rs1803181154
|
|
|
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser)
|
rs769984670
|
|
|
NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys)
|
rs2130715230
|
|
|
NM_152419.3(HGSNAT):c.402C>T (p.Asn134=)
|
|
|
|
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
|
rs1803181529
|
|
|
NM_152419.3(HGSNAT):c.408T>C (p.Ser136=)
|
|
|
|
NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val)
|
|
|
|
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
|
rs773170952
|
|
|
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
|
rs1051098032
|
|
|
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
|
rs1281457648
|
|
|
NM_152419.3(HGSNAT):c.417A>G (p.Val139=)
|
rs2130715314
|
|
|
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)
|
rs2130647887
|
|
|
NM_152419.3(HGSNAT):c.420G>A (p.Lys140=)
|
|
|
|
NM_152419.3(HGSNAT):c.423C>T (p.Asn141=)
|
|
|
|
NM_152419.3(HGSNAT):c.429T>C (p.His143=)
|
rs2130715366
|
|
|
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
|
|
|
|
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
|
|
|
|
NM_152419.3(HGSNAT):c.435A>G (p.Gly145=)
|
|
|
|
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
|
|
|
|
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)
|
rs2130647901
|
|
|
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)
|
rs2130647831
|
|
|
NM_152419.3(HGSNAT):c.451del (p.Cys151fs)
|
|
|
|
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
|
rs1803184135
|
|
|
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.45G>C (p.Ala15=)
|
rs1351688097
|
|
|
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
|
rs553837106
|
|
|
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
|
|
|
|
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
|
rs1803185540
|
|
|
NM_152419.3(HGSNAT):c.48C>T (p.Ser16=)
|
|
|
|
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe)
|
rs2130715697
|
|
|
NM_152419.3(HGSNAT):c.493+14C>G
|
|
|
|
NM_152419.3(HGSNAT):c.493+14C>T
|
|
|
|
NM_152419.3(HGSNAT):c.493+16C>G
|
|
|
|
NM_152419.3(HGSNAT):c.493+1G>C
|
|
|
|
NM_152419.3(HGSNAT):c.493+4C>G
|
|
|
|
NM_152419.3(HGSNAT):c.494-12C>T
|
rs776299194
|
|
|
NM_152419.3(HGSNAT):c.494-13T>C
|
|
|
|
NM_152419.3(HGSNAT):c.494-15C>A
|
rs1033103288
|
|
|
NM_152419.3(HGSNAT):c.494-16T>C
|
|
|
|
NM_152419.3(HGSNAT):c.494-1G>A
|
|
|
|
NM_152419.3(HGSNAT):c.494-2A>G
|
|
|
|
NM_152419.3(HGSNAT):c.494-4C>A
|
rs2130721854
|
|
|
NM_152419.3(HGSNAT):c.494-8T>A
|
|
|
|
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
|
rs2130721874
|
|
|
NM_152419.3(HGSNAT):c.505dup (p.Ala169fs)
|
|
|
|
NM_152419.3(HGSNAT):c.510C>T (p.Phe170=)
|
|
|
|
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
|
rs750046807
|
|
|
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)
|
rs370717845
|
|
|
NM_152419.3(HGSNAT):c.51G>A (p.Val17=)
|
rs1229423417
|
|
|
NM_152419.3(HGSNAT):c.523dup (p.Ala175fs)
|
|
|
|
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)
|
rs483352895
|
|
|
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
|
|
|
|
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
|
|
|
|
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
|
rs1195940980
|
|
|
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
|
|
|
|
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
|
rs781682753
|
|
|
NM_152419.3(HGSNAT):c.547C>T (p.Leu183=)
|
|
|
|
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.54G>A (p.Leu18=)
|
|
|
|
NM_152419.3(HGSNAT):c.552G>A (p.Arg184=)
|
|
|
|
NM_152419.3(HGSNAT):c.557T>A (p.Leu186Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
|
|
|
|
NM_152419.3(HGSNAT):c.563+18G>A
|
|
|
|
NM_152419.3(HGSNAT):c.563+18G>C
|
|
|
|
NM_152419.3(HGSNAT):c.563+1G>C
|
|
|
|
NM_152419.3(HGSNAT):c.563+2T>A
|
rs2130722124
|
|
|
NM_152419.3(HGSNAT):c.563+8A>G
|
rs2130722155
|
|
|
NM_152419.3(HGSNAT):c.563+9T>C
|
|
|
|
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn)
|
rs2130722111
|
|
|
NM_152419.3(HGSNAT):c.564-10T>A
|
rs2130741799
|
|
|
NM_152419.3(HGSNAT):c.564-1G>A
|
|
|
|
NM_152419.3(HGSNAT):c.564-4T>G
|
rs2130741836
|
|
|
NM_152419.3(HGSNAT):c.564-4dup
|
rs748560542
|
|
|
NM_152419.3(HGSNAT):c.564-8A>G
|
rs1803532488
|
|
|
NM_152419.3(HGSNAT):c.564-8_564-5del
|
|
|
|
NM_152419.3(HGSNAT):c.570T>C (p.Asp190=)
|
rs2130741857
|
|
|
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)
|
rs1563366828
|
|
|
NM_152419.3(HGSNAT):c.579C>T (p.Asn193=)
|
|
|
|
NM_152419.3(HGSNAT):c.57C>T (p.Ser19=)
|
|
|
|
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
|
|
|
|
NM_152419.3(HGSNAT):c.582T>C (p.Asn194=)
|
|
|
|
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.600A>C (p.Ile200=)
|
rs2130741996
|
|
|
NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
|
|
|
|
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
|
|
|
|
NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys)
|
rs1385208624
|
|
|
NM_152419.3(HGSNAT):c.610G>T (p.Glu204Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn)
|
rs1454265686
|
|
|
NM_152419.3(HGSNAT):c.618T>C (p.Asp206=)
|
|
|
|
NM_152419.3(HGSNAT):c.620G>A (p.Arg207His)
|
|
|
|
NM_152419.3(HGSNAT):c.621C>T (p.Arg207=)
|
|
|
|
NM_152419.3(HGSNAT):c.624C>T (p.Leu208=)
|
|
|
|
NM_152419.3(HGSNAT):c.633+10G>A
|
|
|
|
NM_152419.3(HGSNAT):c.633+13A>G
|
|
|
|
NM_152419.3(HGSNAT):c.633+17A>G
|
|
|
|
NM_152419.3(HGSNAT):c.633+19A>G
|
|
|
|
NM_152419.3(HGSNAT):c.633+9T>C
|
rs2130742161
|
|
|
NM_152419.3(HGSNAT):c.634-16C>T
|
|
|
|
NM_152419.3(HGSNAT):c.634-18C>G
|
|
|
|
NM_152419.3(HGSNAT):c.634-20T>G
|
|
|
|
NM_152419.3(HGSNAT):c.634-2A>G
|
|
|
|
NM_152419.3(HGSNAT):c.634-8T>A
|
rs2130745626
|
|
|
NM_152419.3(HGSNAT):c.634G>T (p.Glu212Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.642A>T (p.Gly214=)
|
rs1321515975
|
|
|
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
|
|
|
|
NM_152419.3(HGSNAT):c.651C>T (p.Ser217=)
|
rs2130745723
|
|
|
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=)
|
rs541981232
|
|
|
NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
|
|
|
|
NM_152419.3(HGSNAT):c.657A>G (p.Thr219=)
|
|
|
|
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
|
rs1025285008
|
|
|
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
|
rs2130648121
|
|
|
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
|
rs757652049
|
|
|
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
|
rs757652049
|
|
|
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
|
rs951025520
|
|
|
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
|
|
|
|
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)
|
rs1803593441
|
|
|
NM_152419.3(HGSNAT):c.67C>T (p.Leu23=)
|
rs1198688385
|
|
|
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.681G>A (p.Gln227=)
|
|
|
|
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs)
|
rs2130745878
|
|
|
NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr)
|
rs1803593895
|
|
|
NM_152419.3(HGSNAT):c.698dup (p.Ser234fs)
|
|
|
|
NM_152419.3(HGSNAT):c.699A>C (p.Leu233=)
|
rs756091468
|
|
|
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
|
rs1563349632
|
|
|
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.6C>T (p.Ser2=)
|
rs535427008
|
|
|
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys)
|
rs1586725294
|
|
|
NM_152419.3(HGSNAT):c.705C>G (p.Ala235=)
|
|
|
|
NM_152419.3(HGSNAT):c.705C>T (p.Ala235=)
|
|
|
|
NM_152419.3(HGSNAT):c.706C>T (p.Leu236=)
|
rs1051692363
|
|
|
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
|
rs2130746047
|
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
|
NM_152419.3(HGSNAT):c.714C>G (p.Pro238=)
|
rs2130746108
|
|
|
NM_152419.3(HGSNAT):c.719del (p.Leu240fs)
|
rs2130746148
|
|
|
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
|
rs2130746165
|
|
|
NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn)
|
rs2130746199
|
|
|
NM_152419.3(HGSNAT):c.727G>A (p.Val243Met)
|
|
|
|
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
|
rs2130648208
|
|
|
NM_152419.3(HGSNAT):c.738C>T (p.Phe246=)
|
|
|
|
NM_152419.3(HGSNAT):c.739del (p.Arg247fs)
|
rs1085307880
|
|
|
NM_152419.3(HGSNAT):c.743+10C>T
|
rs2130746341
|
|
|
NM_152419.3(HGSNAT):c.743+13C>G
|
|
|
|
NM_152419.3(HGSNAT):c.743+17G>A
|
rs1245020116
|
|
|
NM_152419.3(HGSNAT):c.743+4T>C
|
rs765682296
|
|
|
NM_152419.3(HGSNAT):c.743+7G>A
|
rs750677179
|
|
|
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)
|
rs1324238938
|
|
|
NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val)
|
rs1324238938
|
|
|
NM_152419.3(HGSNAT):c.744-10C>A
|
rs1803651376
|
|
|
NM_152419.3(HGSNAT):c.744-15G>T
|
|
|
|
NM_152419.3(HGSNAT):c.744-16T>C
|
|
|
|
NM_152419.3(HGSNAT):c.744-18T>A
|
|
|
|
NM_152419.3(HGSNAT):c.744-19C>G
|
|
|
|
NM_152419.3(HGSNAT):c.744-20T>G
|
|
|
|
NM_152419.3(HGSNAT):c.744-2A>C
|
|
|
|
NM_152419.3(HGSNAT):c.744-4C>G
|
rs1312600583
|
|
|
NM_152419.3(HGSNAT):c.744-5_744-3del
|
rs776162529
|
|
|
NM_152419.3(HGSNAT):c.744-6T>C
|
|
|
|
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)
|
rs2130648242
|
|
|
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
|
|
|
|
NM_152419.3(HGSNAT):c.750T>C (p.Ala250=)
|
|
|
|
NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del)
|
rs2130750552
|
|
|
NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val)
|
rs2130750568
|
|
|
NM_152419.3(HGSNAT):c.75C>T (p.Pro25=)
|
|
|
|
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
|
rs1188844284
|
|
|
NM_152419.3(HGSNAT):c.771C>T (p.Val257=)
|
|
|
|
NM_152419.3(HGSNAT):c.773A>G (p.Asn258Ser)
|
rs767574122
|
|
|
NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg)
|
rs2130750679
|
|
|
NM_152419.3(HGSNAT):c.781G>T (p.Gly261Ter)
|
rs2130750698
|
|
|
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
|
rs1260742657
|
|
|
NM_152419.3(HGSNAT):c.792T>C (p.Tyr264=)
|
|
|
|
NM_152419.3(HGSNAT):c.793dup (p.Trp265fs)
|
|
|
|
NM_152419.3(HGSNAT):c.807T>C (p.His269=)
|
|
|
|
NM_152419.3(HGSNAT):c.818A>T (p.Asn273Ile)
|
|
|
|
NM_152419.3(HGSNAT):c.81C>T (p.Gly27=)
|
|
|
|
NM_152419.3(HGSNAT):c.820+19G>C
|
|
|
|
NM_152419.3(HGSNAT):c.820+1G>A
|
|
|
|
NM_152419.3(HGSNAT):c.820+6A>G
|
|
|
|
NM_152419.3(HGSNAT):c.820+7T>C
|
|
|
|
NM_152419.3(HGSNAT):c.821-14T>C
|
|
|
|
NM_152419.3(HGSNAT):c.821-20G>T
|
|
|
|
NM_152419.3(HGSNAT):c.821-26G>A
|
|
|
|
NM_152419.3(HGSNAT):c.821-27T>G
|
rs999398262
|
|
|
NM_152419.3(HGSNAT):c.821-30T>C
|
rs2130754670
|
|
|
NM_152419.3(HGSNAT):c.821-31C>T
|
|
|
|
NM_152419.3(HGSNAT):c.821-4G>T
|
rs2130754740
|
|
|
NM_152419.3(HGSNAT):c.821-5del
|
|
|
|
NM_152419.3(HGSNAT):c.821-9G>A
|
rs576856787
|
|
|
NM_152419.3(HGSNAT):c.821-9G>C
|
|
|
|
NM_152419.3(HGSNAT):c.821-9G>T
|
rs576856787
|
|
|
NM_152419.3(HGSNAT):c.823C>T (p.Leu275=)
|
|
|
|
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)
|
rs1802482509
|
|
|
NM_152419.3(HGSNAT):c.847C>T (p.Pro283Ser)
|
rs2130754863
|
|
|
NM_152419.3(HGSNAT):c.851+10C>G
|
rs778394235
|
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
|
NM_152419.3(HGSNAT):c.851+11G>A
|
|
|
|
NM_152419.3(HGSNAT):c.851+11G>C
|
|
|
|
NM_152419.3(HGSNAT):c.851+14C>G
|
rs2130754963
|
|
|
NM_152419.3(HGSNAT):c.851+16G>C
|
|
|
|
NM_152419.3(HGSNAT):c.851+16G>T
|
rs1049678342
|
|
|
NM_152419.3(HGSNAT):c.851+17C>T
|
|
|
|
NM_152419.3(HGSNAT):c.851+19C>A
|
|
|
|
NM_152419.3(HGSNAT):c.851+19C>G
|
|
|
|
NM_152419.3(HGSNAT):c.851+19C>T
|
rs1803714783
|
|
|
NM_152419.3(HGSNAT):c.852-13A>G
|
rs2130766120
|
|
|
NM_152419.3(HGSNAT):c.852-16A>G
|
|
|
|
NM_152419.3(HGSNAT):c.852-1G>A
|
rs1447092074
|
|
|
NM_152419.3(HGSNAT):c.852-2A>G
|
|
|
|
NM_152419.3(HGSNAT):c.852-7T>G
|
rs2130766132
|
|
|
NM_152419.3(HGSNAT):c.852-8C>G
|
|
|
|
NM_152419.3(HGSNAT):c.852G>A (p.Trp284Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
|
|
|
|
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)
|
rs2130648345
|
|
|
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Leu295_Ser296insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
|
rs2130766198
|
|
|
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter)
|
rs372933126
|
|
|
NM_152419.3(HGSNAT):c.888G>C (p.Ser296=)
|
|
|
|
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)
|
rs1490698793
|
|
|
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
|
|
|
|
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
|
|
|
|
NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
|
|
|
|
NM_152419.3(HGSNAT):c.909G>A (p.Arg303=)
|
|
|
|
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
|
rs1187482453
|
|
|
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)
|
rs2130648385
|
|
|
NM_152419.3(HGSNAT):c.912G>T (p.Gly304=)
|
rs771023375
|
|
|
NM_152419.3(HGSNAT):c.918A>G (p.Ser306=)
|
|
|
|
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)
|
rs1803878901
|
|
|
NM_152419.3(HGSNAT):c.932del (p.Leu311fs)
|
|
|
|
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
|
rs1458945407
|
|
|
NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
|
|
|
|
NM_152419.3(HGSNAT):c.93C>G (p.Arg31=)
|
|
|
|
NM_152419.3(HGSNAT):c.93C>T (p.Arg31=)
|
|
|
|
NM_152419.3(HGSNAT):c.945A>T (p.Ala315=)
|
|
|
|
NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
|
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
|
rs2130766469
|
|
|
NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
|
|
|
|
NM_152419.3(HGSNAT):c.959del (p.Leu320fs)
|
|
|
|
NM_152419.3(HGSNAT):c.969C>A (p.Cys323Ter)
|
|
|
|
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
|
|
|
|
NM_152419.3(HGSNAT):c.974G>A (p.Gly325Glu)
|
rs753315223
|
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
|
|
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
|
rs906833070
|
|
|
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
|
|
|
|
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)
|
rs1802483575
|
|
|
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)
|
|
|
|
NM_152419.3(HGSNAT):c.996T>C (p.Asn332=)
|
rs1803883258
|
|
|
NM_152419.3(HGSNAT):c.999T>C (p.Tyr333=)
|
|
|
|
NM_152419.3(HGSNAT):c.99C>A (p.Ala33=)
|
rs1586689721
|
|
|
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=)
|
rs1586689721
|
|
|
NM_152419.3(HGSNAT):c.99C>T (p.Ala33=)
|
|
|
|
NM_152419.3(HGSNAT):c.9G>A (p.Gly3=)
|
|
|
|
NM_152542.5(PPM1K):c.1034C>T (p.Pro345Leu)
|
|
|
|
NM_152542.5(PPM1K):c.1096G>T (p.Ala366Ser)
|
|
|
|
NM_152542.5(PPM1K):c.1100C>G (p.Ser367Cys)
|
|
|
|
NM_152542.5(PPM1K):c.118A>C (p.Ser40Arg)
|
rs2110171811
|
|
|
NM_152542.5(PPM1K):c.155C>T (p.Pro52Leu)
|
|
|
|
NM_152542.5(PPM1K):c.188A>G (p.Asn63Ser)
|
|
|
|
NM_152542.5(PPM1K):c.209G>A (p.Arg70His)
|
|
|
|
NM_152542.5(PPM1K):c.235C>A (p.Pro79Thr)
|
|
|
|
NM_152542.5(PPM1K):c.248A>T (p.Tyr83Phe)
|
|
|
|
NM_152542.5(PPM1K):c.259A>G (p.Ile87Val)
|
|
|
|
NM_152542.5(PPM1K):c.292G>A (p.Ala98Thr)
|
|
|
|
NM_152542.5(PPM1K):c.300G>A (p.Gln100=)
|
|
|
|
NM_152542.5(PPM1K):c.308A>G (p.Lys103Arg)
|
|
|
|
NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln)
|
rs1221527325
|
|
|
NM_152542.5(PPM1K):c.328C>T (p.Arg110Trp)
|
|
|
|
NM_152542.5(PPM1K):c.352G>C (p.Asp118His)
|
|
|
|
NM_152542.5(PPM1K):c.387C>T (p.His129=)
|
|
|
|
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
|
|
|
|
NM_152542.5(PPM1K):c.441-7del
|
rs767683502
|
|
|
NM_152542.5(PPM1K):c.453T>C (p.Pro151=)
|
|
|
|
NM_152542.5(PPM1K):c.47A>C (p.Gln16Pro)
|
rs2110171996
|
|
|
NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp)
|
rs770171465
|
|
|
NM_152542.5(PPM1K):c.510C>T (p.Ala170=)
|
|
|
|
NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu)
|
|
|
|
NM_152542.5(PPM1K):c.526C>G (p.Arg176Gly)
|
rs150935940
|
|
|
NM_152542.5(PPM1K):c.542-9T>C
|
|
|
|
NM_152542.5(PPM1K):c.542C>T (p.Ala181Val)
|
|
|
|
NM_152542.5(PPM1K):c.54A>G (p.Arg18=)
|
rs2110171970
|
|
|
NM_152542.5(PPM1K):c.554C>A (p.Thr185Asn)
|
rs866594106
|
|
|
NM_152542.5(PPM1K):c.592G>T (p.Gly198Cys)
|
|
|
|
NM_152542.5(PPM1K):c.595A>G (p.Ile199Val)
|
rs1427854407
|
|
|
NM_152542.5(PPM1K):c.621G>A (p.Gly207=)
|
|
|
|
NM_152542.5(PPM1K):c.647A>G (p.Lys216Arg)
|
|
|
|
NM_152542.5(PPM1K):c.680C>T (p.Thr227Ile)
|
|
|
|
NM_152542.5(PPM1K):c.690A>G (p.Arg230=)
|
|
|
|
NM_152542.5(PPM1K):c.702A>G (p.Lys234=)
|
|
|
|
NM_152542.5(PPM1K):c.707+15G>A
|
|
|
|
NM_152542.5(PPM1K):c.726T>G (p.Gly242=)
|
|
|
|
NM_152542.5(PPM1K):c.757C>T (p.His253Tyr)
|
|
|
|
NM_152542.5(PPM1K):c.760G>A (p.Val254Ile)
|
|
|
|
NM_152542.5(PPM1K):c.852+14T>C
|
|
|
|
NM_152542.5(PPM1K):c.853-9T>G
|
|
|
|
NM_152542.5(PPM1K):c.888C>T (p.Thr296=)
|
|
|
|
NM_152542.5(PPM1K):c.90C>T (p.Asp30=)
|
|
|
|
NM_152542.5(PPM1K):c.917G>C (p.Ser306Thr)
|
|
|
|
NM_152542.5(PPM1K):c.925A>G (p.Ile309Val)
|
|
|
|
NM_152542.5(PPM1K):c.971A>G (p.His324Arg)
|
rs1731250018
|
|
|
NM_152542.5(PPM1K):c.973G>A (p.Ala325Thr)
|
rs2110154633
|
|
|
NM_152542.5(PPM1K):c.97C>T (p.Arg33Trp)
|
|
|
|
NM_152542.5(PPM1K):c.988-15T>A
|
|
|
|
NM_153006.3(NAGS):c.1008C>T (p.Ile336=)
|
|
|
|
NM_153006.3(NAGS):c.1018C>T (p.Leu340Phe)
|
rs2143987322
|
|
|
NM_153006.3(NAGS):c.1026C>A (p.Arg342=)
|
rs2143987399
|
|
|
NM_153006.3(NAGS):c.1029G>A (p.Leu343=)
|
|
|
|
NM_153006.3(NAGS):c.102C>A (p.Gly34=)
|
rs1466551045
|
|
|
NM_153006.3(NAGS):c.1032C>A (p.Pro344=)
|
|
|
|
NM_153006.3(NAGS):c.1032C>T (p.Pro344=)
|
rs766601934
|
|
|
NM_153006.3(NAGS):c.1035C>T (p.His345=)
|
|
|
|
NM_153006.3(NAGS):c.1037_1070del (p.His346fs)
|
|
|
|
NM_153006.3(NAGS):c.1041C>T (p.Ser347=)
|
rs2143987479
|
|
|
NM_153006.3(NAGS):c.1044G>A (p.Ser348=)
|
|
|
|
NM_153006.3(NAGS):c.1053C>A (p.Ile351=)
|
|
|
|
NM_153006.3(NAGS):c.1053C>T (p.Ile351=)
|
rs2143987541
|
|
|
NM_153006.3(NAGS):c.1056C>T (p.Thr352=)
|
|
|
|
NM_153006.3(NAGS):c.1057G>T (p.Ala353Ser)
|
rs1320094253
|
|
|
NM_153006.3(NAGS):c.1059C>T (p.Ala353=)
|
rs1434296716
|
|
|
NM_153006.3(NAGS):c.105G>A (p.Ala35=)
|
rs771197434
|
|
|
NM_153006.3(NAGS):c.1062T>C (p.Ala354=)
|
|
|
|
NM_153006.3(NAGS):c.106_107del (p.Arg36fs)
|
rs2143978561
|
|
|
NM_153006.3(NAGS):c.1074C>T (p.Leu358=)
|
rs2143987676
|
|
|
NM_153006.3(NAGS):c.1096+14G>C
|
|
|
|
NM_153006.3(NAGS):c.1096+17G>A
|
|
|
|
NM_153006.3(NAGS):c.1096+18G>T
|
|
|
|
NM_153006.3(NAGS):c.1096+25_1096+55del
|
|
|
|
NM_153006.3(NAGS):c.1096+7G>A
|
rs2143987778
|
|
|
NM_153006.3(NAGS):c.1097-10C>G
|
rs2143989589
|
|
|
NM_153006.3(NAGS):c.1097-11TCC[2]
|
|
|
|
NM_153006.3(NAGS):c.1097-12A>G
|
|
|
|
NM_153006.3(NAGS):c.1097-16C>T
|
|
|
|
NM_153006.3(NAGS):c.1097-19C>T
|
|
|
|
NM_153006.3(NAGS):c.1097-1G>C
|
rs2143989613
|
|
|
NM_153006.3(NAGS):c.1097-20C>T
|
|
|
|
NM_153006.3(NAGS):c.1097-2A>G
|
rs2049106256
|
|
|
NM_153006.3(NAGS):c.1097-4C>T
|
|
|
|
NM_153006.3(NAGS):c.1097-52_1105del
|
rs2143989504
|
|
|
NM_153006.3(NAGS):c.1097-9C>T
|
rs2143989599
|
|
|
NM_153006.3(NAGS):c.1104G>A (p.Gly368=)
|
|
|
|
NM_153006.3(NAGS):c.1107C>G (p.Thr369=)
|
rs781536676
|
|
|
NM_153006.3(NAGS):c.1108del (p.Leu370fs)
|
|
|
|
NM_153006.3(NAGS):c.110G>A (p.Arg37Gln)
|
|
|
|
NM_153006.3(NAGS):c.1110G>A (p.Leu370=)
|
|
|
|
NM_153006.3(NAGS):c.1113dup (p.Lys372fs)
|
rs2143989730
|
|
|
NM_153006.3(NAGS):c.1114A>T (p.Lys372Ter)
|
rs2049106859
|
|
|
NM_153006.3(NAGS):c.1119C>T (p.Asn373=)
|
rs2143989746
|
|
|
NM_153006.3(NAGS):c.111_120del (p.Arg38fs)
|
rs2143978628
|
|
|
NM_153006.3(NAGS):c.1122C>A (p.Ala374=)
|
rs2049107012
|
|
|
NM_153006.3(NAGS):c.114G>A (p.Arg38=)
|
|
|
|
NM_153006.3(NAGS):c.1155G>A (p.Lys385=)
|
rs1180741674
|
|
|
NM_153006.3(NAGS):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_153006.3(NAGS):c.1165G>A (p.Gly389Ser)
|
rs2049107623
|
|
|
NM_153006.3(NAGS):c.1167C>T (p.Gly389=)
|
|
|
|
NM_153006.3(NAGS):c.116C>T (p.Ala39Val)
|
rs754480096
|
|
|
NM_153006.3(NAGS):c.116_122dup (p.Arg41fs)
|
|
|
|
NM_153006.3(NAGS):c.1170T>C (p.Arg390=)
|
rs2143989936
|
|
|
NM_153006.3(NAGS):c.1175T>A (p.Val392Glu)
|
rs1168032842
|
|
|
NM_153006.3(NAGS):c.117G>A (p.Ala39=)
|
rs765197938
|
|
|
NM_153006.3(NAGS):c.117G>C (p.Ala39=)
|
rs765197938
|
|
|
NM_153006.3(NAGS):c.1185C>T (p.Val395=)
|
rs1597866228
|
|
|
NM_153006.3(NAGS):c.1192A>T (p.Ser398Cys)
|
|
|
|
NM_153006.3(NAGS):c.1199G>C (p.Gly400Ala)
|
|
|
|
NM_153006.3(NAGS):c.120G>A (p.Ala40=)
|
|
|
|
NM_153006.3(NAGS):c.1212G>A (p.Arg404=)
|
rs2143990187
|
|
|
NM_153006.3(NAGS):c.1215C>T (p.Asp405=)
|
|
|
|
NM_153006.3(NAGS):c.1219T>C (p.Tyr407His)
|
rs1483447934
|
|
|
NM_153006.3(NAGS):c.1224G>A (p.Leu408=)
|
rs2143990246
|
|
|
NM_153006.3(NAGS):c.1227C>T (p.Ala409=)
|
rs2049109242
|
|
|
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
|
|
|
|
NM_153006.3(NAGS):c.1230G>A (p.Ser410=)
|
|
|
|
NM_153006.3(NAGS):c.123G>A (p.Arg41=)
|
rs2143978763
|
|
|
NM_153006.3(NAGS):c.1248C>T (p.His416=)
|
rs1389030432
|
|
|
NM_153006.3(NAGS):c.125G>T (p.Gly42Val)
|
|
|
|
NM_153006.3(NAGS):c.1260C>A (p.Val420=)
|
|
|
|
NM_153006.3(NAGS):c.1263C>T (p.Ser421=)
|
|
|
|
NM_153006.3(NAGS):c.1268+10C>G
|
rs1226354289
|
|
|
NM_153006.3(NAGS):c.1268+10C>T
|
rs1226354289
|
|
|
NM_153006.3(NAGS):c.1268+12G>A
|
|
|
|
NM_153006.3(NAGS):c.1268+13A>G
|
|
|
|
NM_153006.3(NAGS):c.1268+15C>A
|
|
|
|
NM_153006.3(NAGS):c.1268+16C>T
|
|
|
|
NM_153006.3(NAGS):c.1268+17C>T
|
|
|
|
NM_153006.3(NAGS):c.1268+17del
|
|
|
|
NM_153006.3(NAGS):c.1268+17dup
|
|
|
|
NM_153006.3(NAGS):c.1268+1G>A
|
rs1597866317
|
|
|
NM_153006.3(NAGS):c.1268+20A>C
|
|
|
|
NM_153006.3(NAGS):c.1268+2T>C
|
rs202041339
|
|
|
NM_153006.3(NAGS):c.1268+7C>T
|
|
|
|
NM_153006.3(NAGS):c.1269-11C>T
|
|
|
|
NM_153006.3(NAGS):c.1269-14T>C
|
|
|
|
NM_153006.3(NAGS):c.1269-15C>T
|
|
|
|
NM_153006.3(NAGS):c.1269-18G>C
|
|
|
|
NM_153006.3(NAGS):c.1269-20C>T
|
|
|
|
NM_153006.3(NAGS):c.1269-5G>A
|
|
|
|
NM_153006.3(NAGS):c.1269-7G>A
|
|
|
|
NM_153006.3(NAGS):c.1272C>A (p.Tyr424Ter)
|
|
|
|
NM_153006.3(NAGS):c.1278C>T (p.Ala426=)
|
|
|
|
NM_153006.3(NAGS):c.1281C>T (p.Ala427=)
|
|
|
|
NM_153006.3(NAGS):c.1284C>T (p.Ala428=)
|
rs2143990754
|
|
|
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro)
|
rs104894605
|
|
|
NM_153006.3(NAGS):c.1290G>A (p.Leu430=)
|
|
|
|
NM_153006.3(NAGS):c.1290G>C (p.Leu430=)
|
rs1411823216
|
|
|
NM_153006.3(NAGS):c.1293C>T (p.Thr431=)
|
rs746570484
|
|
|
NM_153006.3(NAGS):c.1302del (p.Val435fs)
|
|
|
|
NM_153006.3(NAGS):c.1308G>C (p.Leu436=)
|
|
|
|
NM_153006.3(NAGS):c.1313del (p.Gly438fs)
|
rs1597866458
|
|
|
NM_153006.3(NAGS):c.1313dup (p.Thr439fs)
|
rs1597866458
|
|
|
NM_153006.3(NAGS):c.1320G>C (p.Pro440=)
|
rs2049112622
|
|
|
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter)
|
rs886042831
|
|
|
NM_153006.3(NAGS):c.1323C>T (p.Tyr441=)
|
|
|
|
NM_153006.3(NAGS):c.1324C>G (p.Leu442Val)
|
|
|
|
NM_153006.3(NAGS):c.1328del (p.Asp443fs)
|
|
|
|
NM_153006.3(NAGS):c.1347C>T (p.Ser449=)
|
rs759863903
|
|
|
NM_153006.3(NAGS):c.134del (p.Pro45fs)
|
|
|
|
NM_153006.3(NAGS):c.135G>A (p.Pro45=)
|
rs1390227455
|
|
|
NM_153006.3(NAGS):c.1368C>T (p.Ser456=)
|
|
|
|
NM_153006.3(NAGS):c.1369G>A (p.Gly457Ser)
|
|
|
|
NM_153006.3(NAGS):c.1378C>T (p.Leu460=)
|
rs1272126077
|
|
|
NM_153006.3(NAGS):c.1380G>A (p.Leu460=)
|
|
|
|
NM_153006.3(NAGS):c.1389C>G (p.Cys463Trp)
|
|
|
|
NM_153006.3(NAGS):c.138G>A (p.Gly46=)
|
|
|
|
NM_153006.3(NAGS):c.138del (p.Arg47fs)
|
rs2143978844
|
|
|
NM_153006.3(NAGS):c.1398G>A (p.Arg466=)
|
rs369492320
|
|
|
NM_153006.3(NAGS):c.1398G>T (p.Arg466=)
|
rs369492320
|
|
|
NM_153006.3(NAGS):c.1401C>T (p.Asp467=)
|
rs2143991312
|
|
|
NM_153006.3(NAGS):c.1407G>A (p.Gln469=)
|
rs1597866589
|
|
|
NM_153006.3(NAGS):c.1413T>C (p.Leu471=)
|
rs745475802
|
|
|
NM_153006.3(NAGS):c.1414_1415del (p.Phe472fs)
|
rs2143991359
|
|
|
NM_153006.3(NAGS):c.141C>A (p.Arg47=)
|
|
|
|
NM_153006.3(NAGS):c.141C>G (p.Arg47=)
|
|
|
|
NM_153006.3(NAGS):c.1428G>C (p.Arg476=)
|
rs961520446
|
|
|
NM_153006.3(NAGS):c.1434C>A (p.Thr478=)
|
|
|
|
NM_153006.3(NAGS):c.1440C>T (p.Pro480=)
|
rs1412613219
|
|
|
NM_153006.3(NAGS):c.1451+13A>G
|
|
|
|
NM_153006.3(NAGS):c.1451+16C>T
|
|
|
|
NM_153006.3(NAGS):c.1451+20G>C
|
|
|
|
NM_153006.3(NAGS):c.1451+7C>A
|
rs755758863
|
|
|
NM_153006.3(NAGS):c.1451+7C>G
|
rs755758863
|
|
|
NM_153006.3(NAGS):c.1451+9T>A
|
|
|
|
NM_153006.3(NAGS):c.1451+9_1451+10inv
|
|
|
|
NM_153006.3(NAGS):c.1452-12C>T
|
|
|
|
NM_153006.3(NAGS):c.1452-13T>G
|
|
|
|
NM_153006.3(NAGS):c.1452-15C>A
|
|
|
|
NM_153006.3(NAGS):c.1452-9C>G
|
rs532143469
|
|
|
NM_153006.3(NAGS):c.1452-9C>T
|
|
|
|
NM_153006.3(NAGS):c.1464C>T (p.His488=)
|
|
|
|
NM_153006.3(NAGS):c.1470T>C (p.Asp490=)
|
rs905032249
|
|
|
NM_153006.3(NAGS):c.147C>A (p.Leu49=)
|
|
|
|
NM_153006.3(NAGS):c.1491G>A (p.Gln497=)
|
rs1377573272
|
|
|
NM_153006.3(NAGS):c.1503C>T (p.Phe501=)
|
|
|
|
NM_153006.3(NAGS):c.1515G>C (p.Leu505=)
|
rs2049123033
|
|
|
NM_153006.3(NAGS):c.1524C>G (p.Ile508Met)
|
|
|
|
NM_153006.3(NAGS):c.1532C>G (p.Ser511Cys)
|
|
|
|
NM_153006.3(NAGS):c.153C>T (p.Thr51=)
|
rs2049062343
|
|
|
NM_153006.3(NAGS):c.1542G>A (p.Leu514=)
|
rs1181746782
|
|
|
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
|
|
|
|
NM_153006.3(NAGS):c.1557G>A (p.Lys519=)
|
|
|
|
NM_153006.3(NAGS):c.1566A>C (p.Pro522=)
|
rs1468250857
|
|
|
NM_153006.3(NAGS):c.156C>T (p.Ala52=)
|
rs2143978978
|
|
|
NM_153006.3(NAGS):c.1572C>A (p.Ser524=)
|
rs1020636428
|
|
|
NM_153006.3(NAGS):c.1587T>C (p.Ala529=)
|
rs2143993662
|
|
|
NM_153006.3(NAGS):c.1593C>T (p.Asp531=)
|
rs748372797
|
|
|
NM_153006.3(NAGS):c.1596A>C (p.Pro532=)
|
rs2049124321
|
|
|
NM_153006.3(NAGS):c.15G>A (p.Leu5=)
|
rs2143978145
|
|
|
NM_153006.3(NAGS):c.162G>A (p.Ser54=)
|
rs2049062552
|
|
|
NM_153006.3(NAGS):c.168C>T (p.Pro56=)
|
rs1597863930
|
|
|
NM_153006.3(NAGS):c.174C>T (p.Pro58=)
|
|
|
|
NM_153006.3(NAGS):c.177G>A (p.Pro59=)
|
|
|
|
NM_153006.3(NAGS):c.181G>C (p.Glu61Gln)
|
|
|
|
NM_153006.3(NAGS):c.189C>T (p.Tyr63=)
|
rs1555620394
|
|
|
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr)
|
rs531005276
|
|
|
NM_153006.3(NAGS):c.193G>A (p.Gly65Ser)
|
|
|
|
NM_153006.3(NAGS):c.198G>A (p.Ala66=)
|
|
|
|
NM_153006.3(NAGS):c.198G>T (p.Ala66=)
|
|
|
|
NM_153006.3(NAGS):c.201C>T (p.Asp67=)
|
rs748567515
|
|
|
NM_153006.3(NAGS):c.204C>T (p.Asp68=)
|
|
|
|
NM_153006.3(NAGS):c.205G>C (p.Val69Leu)
|
|
|
|
NM_153006.3(NAGS):c.210C>T (p.Ser70=)
|
rs570583859
|
|
|
NM_153006.3(NAGS):c.216G>A (p.Ser72=)
|
|
|
|
NM_153006.3(NAGS):c.216G>C (p.Ser72=)
|
rs891726101
|
|
|
NM_153006.3(NAGS):c.219C>T (p.Pro73=)
|
rs2143979276
|
|
|
NM_153006.3(NAGS):c.225C>G (p.Ala75=)
|
rs1192887521
|
|
|
NM_153006.3(NAGS):c.225C>T (p.Ala75=)
|
|
|
|
NM_153006.3(NAGS):c.234G>A (p.Pro78=)
|
|
|
|
NM_153006.3(NAGS):c.234G>T (p.Pro78=)
|
|
|
|
NM_153006.3(NAGS):c.236C>T (p.Ser79Leu)
|
|
|
|
NM_153006.3(NAGS):c.24G>C (p.Val8=)
|
|
|
|
NM_153006.3(NAGS):c.252C>G (p.Pro84=)
|
|
|
|
NM_153006.3(NAGS):c.258C>T (p.Pro86=)
|
|
|
|
NM_153006.3(NAGS):c.261G>A (p.Pro87=)
|
|
|
|
NM_153006.3(NAGS):c.261G>C (p.Pro87=)
|
rs890999429
|
|
|
NM_153006.3(NAGS):c.267C>T (p.Pro89=)
|
rs1267196366
|
|
|
NM_153006.3(NAGS):c.270C>T (p.His90=)
|
rs2143979493
|
|
|
NM_153006.3(NAGS):c.276C>G (p.Ser92=)
|
rs2143979527
|
|
|
NM_153006.3(NAGS):c.289T>C (p.Ser97Pro)
|
|
|
|
NM_153006.3(NAGS):c.294C>A (p.Gly98=)
|
rs1252906552
|
|
|
NM_153006.3(NAGS):c.299C>A (p.Ser100Ter)
|
rs764150659
|
|
|
NM_153006.3(NAGS):c.2T>C (p.Met1Thr)
|
|
|
|
NM_153006.3(NAGS):c.306G>A (p.Val102=)
|
rs2143979742
|
|
|
NM_153006.3(NAGS):c.310del (p.Arg104fs)
|
|
|
|
NM_153006.3(NAGS):c.312G>A (p.Arg104=)
|
|
|
|
NM_153006.3(NAGS):c.312G>C (p.Arg104=)
|
rs2143979790
|
|
|
NM_153006.3(NAGS):c.327C>T (p.Phe109=)
|
rs2143979832
|
|
|
NM_153006.3(NAGS):c.32G>A (p.Arg11Gln)
|
|
|
|
NM_153006.3(NAGS):c.330G>A (p.Leu110=)
|
|
|
|
NM_153006.3(NAGS):c.333C>T (p.Asn111=)
|
|
|
|
NM_153006.3(NAGS):c.336G>A (p.Gln112=)
|
|
|
|
NM_153006.3(NAGS):c.339C>A (p.Cys113Ter)
|
|
|
|
NM_153006.3(NAGS):c.339C>T (p.Cys113=)
|
|
|
|
NM_153006.3(NAGS):c.342G>A (p.Gly114=)
|
|
|
|
NM_153006.3(NAGS):c.342G>C (p.Gly114=)
|
|
|
|
NM_153006.3(NAGS):c.343del (p.Ala115fs)
|
|
|
|
NM_153006.3(NAGS):c.34del (p.Ala12fs)
|
rs2049059647
|
|
|
NM_153006.3(NAGS):c.353G>C (p.Gly118Ala)
|
|
|
|
NM_153006.3(NAGS):c.354G>A (p.Gly118=)
|
rs2143980002
|
|
|
NM_153006.3(NAGS):c.354G>C (p.Gly118=)
|
rs2143980002
|
|
|
NM_153006.3(NAGS):c.360G>A (p.Ala120=)
|
|
|
|
NM_153006.3(NAGS):c.361C>A (p.Arg121Ser)
|
rs1024501740
|
|
|
NM_153006.3(NAGS):c.363C>A (p.Arg121=)
|
rs1181064814
|
|
|
NM_153006.3(NAGS):c.368G>A (p.Trp123Ter)
|
rs2143980093
|
|
|
NM_153006.3(NAGS):c.376C>T (p.Gln126Ter)
|
|
|
|
NM_153006.3(NAGS):c.381C>T (p.Phe127=)
|
rs927052830
|
|
|
NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)
|
|
|
|
NM_153006.3(NAGS):c.390C>A (p.Cys130Ter)
|
rs2143980228
|
|
|
NM_153006.3(NAGS):c.399C>G (p.Ser133=)
|
rs1395771233
|
|
|
NM_153006.3(NAGS):c.399C>T (p.Ser133=)
|
|
|
|
NM_153006.3(NAGS):c.402G>A (p.Ala134=)
|
|
|
|
NM_153006.3(NAGS):c.426+13C>T
|
|
|
|
NM_153006.3(NAGS):c.426+15G>C
|
|
|
|
NM_153006.3(NAGS):c.426+16C>T
|
|
|
|
NM_153006.3(NAGS):c.426+17G>A
|
|
|
|
NM_153006.3(NAGS):c.426+7G>A
|
rs2143980401
|
|
|
NM_153006.3(NAGS):c.427-12dup
|
|
|
|
NM_153006.3(NAGS):c.427-218A>C
|
|
|
|
NM_153006.3(NAGS):c.427-4G>C
|
|
|
|
NM_153006.3(NAGS):c.427-5C>T
|
rs1468991083
|
|
|
NM_153006.3(NAGS):c.427-9C>A
|
|
|
|
NM_153006.3(NAGS):c.427-9C>T
|
rs764462133
|
|
|
NM_153006.3(NAGS):c.432C>T (p.Asp144=)
|
rs2143982442
|
|
|
NM_153006.3(NAGS):c.435G>A (p.Glu145=)
|
rs1361718132
|
|
|
NM_153006.3(NAGS):c.444C>A (p.Leu148=)
|
rs2143982508
|
|
|
NM_153006.3(NAGS):c.459C>A (p.Gly153=)
|
|
|
|
NM_153006.3(NAGS):c.45A>C (p.Val15=)
|
|
|
|
NM_153006.3(NAGS):c.465C>A (p.Ser155=)
|
rs535703833
|
|
|
NM_153006.3(NAGS):c.465C>T (p.Ser155=)
|
rs535703833
|
|
|
NM_153006.3(NAGS):c.467G>A (p.Ser156Asn)
|
|
|
|
NM_153006.3(NAGS):c.46del (p.Ala16fs)
|
rs2143978288
|
|
|
NM_153006.3(NAGS):c.477T>C (p.Phe159=)
|
rs2143982629
|
|
|
NM_153006.3(NAGS):c.480C>T (p.Ala160=)
|
rs1157924781
|
|
|
NM_153006.3(NAGS):c.490T>C (p.Leu164=)
|
|
|
|
NM_153006.3(NAGS):c.492G>A (p.Leu164=)
|
rs1372324564
|
|
|
NM_153006.3(NAGS):c.504_505delinsTT (p.Met169Leu)
|
rs2049077729
|
|
|
NM_153006.3(NAGS):c.513G>A (p.Pro171=)
|
|
|
|
NM_153006.3(NAGS):c.513G>C (p.Pro171=)
|
|
|
|
NM_153006.3(NAGS):c.514C>T (p.Leu172=)
|
|
|
|
NM_153006.3(NAGS):c.516G>C (p.Leu172=)
|
|
|
|
NM_153006.3(NAGS):c.519G>T (p.Val173=)
|
|
|
|
NM_153006.3(NAGS):c.522C>T (p.Val174=)
|
|
|
|
NM_153006.3(NAGS):c.528G>A (p.Gly176=)
|
|
|
|
NM_153006.3(NAGS):c.535dup (p.Ala179fs)
|
|
|
|
NM_153006.3(NAGS):c.536C>T (p.Ala179Val)
|
|
|
|
NM_153006.3(NAGS):c.540T>C (p.Pro180=)
|
rs2143982962
|
|
|
NM_153006.3(NAGS):c.541A>G (p.Thr181Ala)
|
|
|
|
NM_153006.3(NAGS):c.544G>C (p.Ala182Pro)
|
|
|
|
NM_153006.3(NAGS):c.548C>T (p.Pro183Leu)
|
|
|
|
NM_153006.3(NAGS):c.54G>A (p.Arg18=)
|
|
|
|
NM_153006.3(NAGS):c.552G>A (p.Ser184=)
|
|
|
|
NM_153006.3(NAGS):c.552G>C (p.Ser184=)
|
rs766392856
|
|
|
NM_153006.3(NAGS):c.552G>T (p.Ser184=)
|
|
|
|
NM_153006.3(NAGS):c.555C>A (p.Gly185=)
|
rs2143983063
|
|
|
NM_153006.3(NAGS):c.561T>A (p.Leu187=)
|
|
|
|
NM_153006.3(NAGS):c.561T>G (p.Leu187=)
|
|
|
|
NM_153006.3(NAGS):c.562dup (p.Ser188fs)
|
|
|
|
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter)
|
rs2049079486
|
|
|
NM_153006.3(NAGS):c.56T>C (p.Leu19Pro)
|
rs1230176529
|
|
|
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter)
|
rs755257734
|
|
|
NM_153006.3(NAGS):c.581C>A (p.Ala194Glu)
|
|
|
|
NM_153006.3(NAGS):c.588G>A (p.Leu196=)
|
rs2143983210
|
|
|
NM_153006.3(NAGS):c.591C>T (p.Ala197=)
|
|
|
|
NM_153006.3(NAGS):c.602A>C (p.Lys201Thr)
|
|
|
|
NM_153006.3(NAGS):c.606G>C (p.Val202=)
|
rs2143983282
|
|
|
NM_153006.3(NAGS):c.611T>C (p.Val204Ala)
|
|
|
|
NM_153006.3(NAGS):c.618G>T (p.Ala206=)
|
rs767680440
|
|
|
NM_153006.3(NAGS):c.622C>T (p.Arg208Ter)
|
rs762205848
|
|
|
NM_153006.3(NAGS):c.624A>T (p.Arg208=)
|
|
|
|
NM_153006.3(NAGS):c.630C>T (p.Asn210=)
|
rs2049080644
|
|
|
NM_153006.3(NAGS):c.636C>T (p.Ala212=)
|
rs767989838
|
|
|
NM_153006.3(NAGS):c.639T>C (p.Ala213=)
|
|
|
|
NM_153006.3(NAGS):c.63C>A (p.Gly21=)
|
|
|
|
NM_153006.3(NAGS):c.63C>G (p.Gly21=)
|
rs751131092
|
|
|
NM_153006.3(NAGS):c.64C>T (p.Arg22Trp)
|
rs756973889
|
|
|
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
|
|
|
|
NM_153006.3(NAGS):c.65G>C (p.Arg22Pro)
|
|
|
|
NM_153006.3(NAGS):c.663G>A (p.Gly221=)
|
rs2143983603
|
|
|
NM_153006.3(NAGS):c.675C>T (p.Arg225=)
|
rs1436648834
|
|
|
NM_153006.3(NAGS):c.681C>G (p.Ala227=)
|
rs886052982
|
|
|
NM_153006.3(NAGS):c.681C>T (p.Ala227=)
|
|
|
|
NM_153006.3(NAGS):c.687G>A (p.Pro229=)
|
rs1319985208
|
|
|
NM_153006.3(NAGS):c.693C>T (p.Pro231=)
|
|
|
|
NM_153006.3(NAGS):c.69_78del (p.Gly24fs)
|
rs2049060332
|
|
|
NM_153006.3(NAGS):c.6G>A (p.Ala2=)
|
rs2143978073
|
|
|
NM_153006.3(NAGS):c.701+10C>T
|
|
|
|
NM_153006.3(NAGS):c.701+10del
|
rs1304329263
|
|
|
NM_153006.3(NAGS):c.701+16G>C
|
|
|
|
NM_153006.3(NAGS):c.701+17C>T
|
|
|
|
NM_153006.3(NAGS):c.701+1G>A
|
rs2049082368
|
|
|
NM_153006.3(NAGS):c.701+20G>A
|
|
|
|
NM_153006.3(NAGS):c.701+5_701+13dup
|
|
|
|
NM_153006.3(NAGS):c.701+7G>A
|
|
|
|
NM_153006.3(NAGS):c.701+8C>T
|
|
|
|
NM_153006.3(NAGS):c.702-14C>T
|
|
|
|
NM_153006.3(NAGS):c.702-16C>T
|
|
|
|
NM_153006.3(NAGS):c.702-20G>A
|
|
|
|
NM_153006.3(NAGS):c.702-4A>G
|
|
|
|
NM_153006.3(NAGS):c.702-7C>T
|
|
|
|
NM_153006.3(NAGS):c.706G>A (p.Gly236Ser)
|
|
|
|
NM_153006.3(NAGS):c.710G>A (p.Gly237Asp)
|
|
|
|
NM_153006.3(NAGS):c.711C>T (p.Gly237=)
|
|
|
|
NM_153006.3(NAGS):c.71G>A (p.Gly24Asp)
|
|
|
|
NM_153006.3(NAGS):c.720G>A (p.Ser240=)
|
|
|
|
NM_153006.3(NAGS):c.720G>T (p.Ser240=)
|
|
|
|
NM_153006.3(NAGS):c.721G>A (p.Val241Met)
|
rs899402990
|
|
|
NM_153006.3(NAGS):c.724G>T (p.Glu242Ter)
|
rs2143984711
|
|
|
NM_153006.3(NAGS):c.72C>T (p.Gly24=)
|
|
|
|
NM_153006.3(NAGS):c.735G>A (p.Leu245=)
|
rs2143984745
|
|
|
NM_153006.3(NAGS):c.744G>T (p.Trp248Cys)
|
rs1011767739
|
|
|
NM_153006.3(NAGS):c.747C>T (p.Cys249=)
|
|
|
|
NM_153006.3(NAGS):c.750G>A (p.Leu250=)
|
|
|
|
NM_153006.3(NAGS):c.756G>A (p.Ser252=)
|
rs778189681
|
|
|
NM_153006.3(NAGS):c.75T>G (p.Thr25=)
|
|
|
|
NM_153006.3(NAGS):c.768C>G (p.Pro256=)
|
|
|
|
NM_153006.3(NAGS):c.771C>T (p.Ile257=)
|
rs777226243
|
|
|
NM_153006.3(NAGS):c.777C>A (p.Cys259Ter)
|
rs2049086224
|
|
|
NM_153006.3(NAGS):c.777C>T (p.Cys259=)
|
|
|
|
NM_153006.3(NAGS):c.778C>A (p.Pro260Thr)
|
|
|
|
NM_153006.3(NAGS):c.781A>G (p.Ile261Val)
|
|
|
|
NM_153006.3(NAGS):c.783C>T (p.Ile261=)
|
|
|
|
NM_153006.3(NAGS):c.784G>A (p.Gly262Arg)
|
rs769924999
|
|
|
NM_153006.3(NAGS):c.785G>C (p.Gly262Ala)
|
|
|
|
NM_153006.3(NAGS):c.78G>T (p.Gly26=)
|
rs2143978469
|
|
|
NM_153006.3(NAGS):c.796G>T (p.Ala266Ser)
|
|
|
|
NM_153006.3(NAGS):c.798G>A (p.Ala266=)
|
rs1259851618
|
|
|
NM_153006.3(NAGS):c.801C>A (p.Arg267=)
|
|
|
|
NM_153006.3(NAGS):c.801C>T (p.Arg267=)
|
|
|
|
NM_153006.3(NAGS):c.807C>T (p.Ser269=)
|
rs767368629
|
|
|
NM_153006.3(NAGS):c.810G>A (p.Val270=)
|
rs1171066992
|
|
|
NM_153006.3(NAGS):c.810G>T (p.Val270=)
|
rs1171066992
|
|
|
NM_153006.3(NAGS):c.816C>T (p.Leu272=)
|
|
|
|
NM_153006.3(NAGS):c.81C>T (p.Gly27=)
|
rs1473496570
|
|
|
NM_153006.3(NAGS):c.822C>T (p.Ser274=)
|
|
|
|
NM_153006.3(NAGS):c.831G>A (p.Val277=)
|
rs779484535
|
|
|
NM_153006.3(NAGS):c.837G>T (p.Ala279=)
|
rs778475082
|
|
|
NM_153006.3(NAGS):c.83C>T (p.Ala28Val)
|
|
|
|
NM_153006.3(NAGS):c.840G>A (p.Ser280=)
|
|
|
|
NM_153006.3(NAGS):c.840G>T (p.Ser280=)
|
|
|
|
NM_153006.3(NAGS):c.843G>A (p.Leu281=)
|
|
|
|
NM_153006.3(NAGS):c.852G>T (p.Ala284=)
|
|
|
|
NM_153006.3(NAGS):c.857G>A (p.Arg286Gln)
|
rs2049088201
|
|
|
NM_153006.3(NAGS):c.861C>T (p.Pro287=)
|
rs2143985503
|
|
|
NM_153006.3(NAGS):c.864C>G (p.Thr288=)
|
rs1196927943
|
|
|
NM_153006.3(NAGS):c.870C>T (p.Ile290=)
|
|
|
|
NM_153006.3(NAGS):c.876C>G (p.Phe292Leu)
|
|
|
|
NM_153006.3(NAGS):c.881A>G (p.Asn294Ser)
|
|
|
|
NM_153006.3(NAGS):c.885C>T (p.Asn295=)
|
|
|
|
NM_153006.3(NAGS):c.888A>T (p.Thr296=)
|
rs2143985659
|
|
|
NM_153006.3(NAGS):c.893del (p.Gly298fs)
|
rs2143985704
|
|
|
NM_153006.3(NAGS):c.89G>A (p.Arg30Lys)
|
|
|
|
NM_153006.3(NAGS):c.900C>A (p.Arg300=)
|
rs753318804
|
|
|
NM_153006.3(NAGS):c.900C>G (p.Arg300=)
|
rs753318804
|
|
|
NM_153006.3(NAGS):c.904A>G (p.Ser302Gly)
|
rs377702343
|
|
|
NM_153006.3(NAGS):c.906C>T (p.Ser302=)
|
rs1433560187
|
|
|
NM_153006.3(NAGS):c.90G>A (p.Arg30=)
|
rs2143978515
|
|
|
NM_153006.3(NAGS):c.915+14_915+16dup
|
|
|
|
NM_153006.3(NAGS):c.915+14_915+17del
|
|
|
|
NM_153006.3(NAGS):c.915+1G>T
|
rs1319006991
|
|
|
NM_153006.3(NAGS):c.915+2T>C
|
|
|
|
NM_153006.3(NAGS):c.915+8C>G
|
rs2143985981
|
|
|
NM_153006.3(NAGS):c.916-2A>T
|
rs730880267
|
|
|
NM_153006.3(NAGS):c.918C>A (p.Val306=)
|
rs2049093957
|
|
|
NM_153006.3(NAGS):c.918C>T (p.Val306=)
|
|
|
|
NM_153006.3(NAGS):c.92_119del (p.Leu31fs)
|
|
|
|
NM_153006.3(NAGS):c.933C>T (p.Asn311=)
|
rs2143986837
|
|
|
NM_153006.3(NAGS):c.936G>A (p.Leu312=)
|
|
|
|
NM_153006.3(NAGS):c.939C>G (p.Pro313=)
|
|
|
|
NM_153006.3(NAGS):c.949G>A (p.Asp317Asn)
|
|
|
|
NM_153006.3(NAGS):c.951C>T (p.Asp317=)
|
rs2143986927
|
|
|
NM_153006.3(NAGS):c.957G>A (p.Val319=)
|
|
|
|
NM_153006.3(NAGS):c.966C>T (p.Ala322=)
|
rs2143987016
|
|
|
NM_153006.3(NAGS):c.984A>C (p.Lys328Asn)
|
|
|
|
NM_153006.3(NAGS):c.998_1016del (p.Met333fs)
|
|
|
|
NM_153006.3(NAGS):c.9G>A (p.Thr3=)
|
|
|
|
NM_153006.3(NAGS):c.9G>T (p.Thr3=)
|
|
|
|
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
|
rs1018880684
|
|
|
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
|
|
|
|
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)
|
rs2126629821
|
|
|
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)
|
rs2126629831
|
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
|
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
|
|
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
|
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)
|
rs1302017266
|
|
|
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
|
|
|
|
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
|
|
|
|
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
|
|
|
|
NM_172250.3(MMAA):c.1095T>C (p.Val365=)
|
rs2126629917
|
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
|
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
|
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
|
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
|
|
|
|
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
|
|
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
|
NM_172250.3(MMAA):c.1124del (p.Val375fs)
|
|
|
|
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)
|
rs2126629961
|
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
|
NM_172250.3(MMAA):c.1145del (p.His382fs)
|
|
|
|
NM_172250.3(MMAA):c.1146C>T (p.His382=)
|
rs1186287486
|
|
|
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)
|
rs2126629982
|
|
|
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
|
|
|
|
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
|
|
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
|
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
|
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
|
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)
|
rs2126630021
|
|
|
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)
|
rs1578888894
|
|
|
NM_172250.3(MMAA):c.117A>G (p.Pro39=)
|
rs2126617113
|
|
|
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
|
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
|
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)
|
rs2126630061
|
|
|
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
|
rs1374931888
|
|
|
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
|
|
|
|
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
|
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
|
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
|
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)
|
rs2126617138
|
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
|
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)
|
rs1560795828
|
|
|
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
|
|
|
|
NM_172250.3(MMAA):c.150T>C (p.His50=)
|
rs2126617181
|
|
|
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
|
|
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
|
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
|
rs2126617212
|
|
|
NM_172250.3(MMAA):c.168G>A (p.Leu56=)
|
rs1396471571
|
|
|
NM_172250.3(MMAA):c.168G>T (p.Leu56=)
|
rs1396471571
|
|
|
NM_172250.3(MMAA):c.170del (p.Leu57fs)
|
|
|
|
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
|
|
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
|
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
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|
|
|
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
|
|
|
|
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
|
|
|
|
NM_172250.3(MMAA):c.201A>G (p.Val67=)
|
|
|
|
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
|
rs754894257
|
|
|
NM_172250.3(MMAA):c.204A>G (p.Gln68=)
|
rs1727714117
|
|
|
NM_172250.3(MMAA):c.21T>C (p.His7=)
|
|
|
|
NM_172250.3(MMAA):c.222C>T (p.His74=)
|
rs1578877626
|
|
|
NM_172250.3(MMAA):c.240T>C (p.Asp80=)
|
rs2126617322
|
|
|
NM_172250.3(MMAA):c.246G>A (p.Glu82=)
|
rs750230122
|
|
|
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
|
rs2126617358
|
|
|
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
|
|
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
|
NM_172250.3(MMAA):c.288G>A (p.Gly96=)
|
rs559279147
|
|
|
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
|
|
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
|
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
|
rs1727720677
|
|
|
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
|
|
|
|
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
|
|
|
|
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
|
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
|
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
|
rs774790573
|
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
|
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
|
|
|
|
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
|
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
|
NM_172250.3(MMAA):c.363G>C (p.Val121=)
|
rs2126617517
|
|
|
NM_172250.3(MMAA):c.369T>G (p.Leu123=)
|
rs1418638749
|
|
|
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
|
rs1661385949
|
|
|
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
|
|
|
|
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
|
|
|
|
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
|
|
|
|
NM_172250.3(MMAA):c.388del (p.His130fs)
|
|
|
|
NM_172250.3(MMAA):c.390C>T (p.His130=)
|
|
|
|
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
|
rs1727705456
|
|
|
NM_172250.3(MMAA):c.402A>G (p.Glu134=)
|
rs2126617588
|
|
|
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
|
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
|
NM_172250.3(MMAA):c.414A>G (p.Lys138=)
|
rs1237655127
|
|
|
NM_172250.3(MMAA):c.439+12T>G
|
|
|
|
NM_172250.3(MMAA):c.439+14G>T
|
|
|
|
NM_172250.3(MMAA):c.439+14del
|
|
|
|
NM_172250.3(MMAA):c.439+16G>C
|
|
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
|
NM_172250.3(MMAA):c.439+9T>C
|
|
|
|
NM_172250.3(MMAA):c.440-10dup
|
|
|
|
NM_172250.3(MMAA):c.440-19A>C
|
|
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
|
NM_172250.3(MMAA):c.440-7A>C
|
rs1337205137
|
|
|
NM_172250.3(MMAA):c.440-9C>A
|
|
|
|
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
|
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
|
NM_172250.3(MMAA):c.453C>G (p.Pro151=)
|
rs879110861
|
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
|
NM_172250.3(MMAA):c.468dup (p.Ser157fs)
|
rs2126619930
|
|
|
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
|
|
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
|
NM_172250.3(MMAA):c.513G>A (p.Gly171=)
|
rs2126620000
|
|
|
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
|
|
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
|
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
|
|
|
|
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
|
|
|
|
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
|
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
|
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
|
|
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
|
NM_172250.3(MMAA):c.562+7A>T
|
rs2126620073
|
|
|
NM_172250.3(MMAA):c.562+8T>C
|
|
|
|
NM_172250.3(MMAA):c.562+9G>A
|
rs2126620076
|
|
|
NM_172250.3(MMAA):c.563-17G>A
|
|
|
|
NM_172250.3(MMAA):c.563-4T>A
|
|
|
|
NM_172250.3(MMAA):c.564A>T (p.Gly188=)
|
rs1727918663
|
|
|
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
|
|
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
|
NM_172250.3(MMAA):c.600A>G (p.Leu200=)
|
rs2126622751
|
|
|
NM_172250.3(MMAA):c.603A>G (p.Ser201=)
|
rs2126622760
|
|
|
NM_172250.3(MMAA):c.618A>G (p.Ala206=)
|
rs1727920444
|
|
|
NM_172250.3(MMAA):c.639del (p.Arg214fs)
|
rs2126622813
|
|
|
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
|
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
|
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
|
|
|
|
NM_172250.3(MMAA):c.657C>A (p.Gly219=)
|
rs1291307841
|
|
|
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
|
|
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
|
NM_172250.3(MMAA):c.663A>G (p.Thr221=)
|
rs2126622855
|
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
|
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
|
|
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
|
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
|
rs1727922828
|
|
|
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
|
|
|
|
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
|
|
|
|
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
|
|
|
|
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
|
|
|
|
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
|
|
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
|
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
|
|
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
|
NM_172250.3(MMAA):c.733+12A>G
|
|
|
|
NM_172250.3(MMAA):c.733+16T>G
|
|
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
|
NM_172250.3(MMAA):c.733+9G>A
|
|
|
|
NM_172250.3(MMAA):c.734-13T>C
|
|
|
|
NM_172250.3(MMAA):c.734-15G>A
|
|
|
|
NM_172250.3(MMAA):c.734-20G>A
|
|
|
|
NM_172250.3(MMAA):c.734-9C>A
|
rs756275016
|
|
|
NM_172250.3(MMAA):c.734-9C>T
|
rs756275016
|
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
|
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
|
|
|
|
NM_172250.3(MMAA):c.762T>C (p.Ala254=)
|
rs1033389087
|
|
|
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
|
rs1728076151
|
|
|
NM_172250.3(MMAA):c.771T>C (p.Val257=)
|
rs2126627142
|
|
|
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
|
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
|
NM_172250.3(MMAA):c.783T>A (p.Val261=)
|
rs2126627167
|
|
|
NM_172250.3(MMAA):c.783T>G (p.Val261=)
|
|
|
|
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
|
|
|
|
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
|
rs2126617065
|
|
|
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)
|
rs2126627182
|
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
|
NM_172250.3(MMAA):c.816G>A (p.Leu272=)
|
rs1728078075
|
|
|
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
|
|
|
|
NM_172250.3(MMAA):c.819+11T>G
|
|
|
|
NM_172250.3(MMAA):c.819+13del
|
|
|
|
NM_172250.3(MMAA):c.819+19dup
|
|
|
|
NM_172250.3(MMAA):c.819+8T>C
|
|
|
|
NM_172250.3(MMAA):c.81C>T (p.Ile27=)
|
rs2126617076
|
|
|
NM_172250.3(MMAA):c.820-10A>C
|
rs2126629035
|
|
|
NM_172250.3(MMAA):c.820-13C>G
|
|
|
|
NM_172250.3(MMAA):c.820-15T>G
|
|
|
|
NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
|
|
NM_172250.3(MMAA):c.820-2A>G
|
|
|
|
NM_172250.3(MMAA):c.820-7T>C
|
|
|
|
NM_172250.3(MMAA):c.820-8C>G
|
rs1728162232
|
|
|
NM_172250.3(MMAA):c.831G>A (p.Arg277=)
|
|
|
|
NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
|
|
|
|
NM_172250.3(MMAA):c.851del (p.Asp284fs)
|
|
|
|
NM_172250.3(MMAA):c.855G>A (p.Leu285=)
|
|
|
|
NM_172250.3(MMAA):c.858A>G (p.Val286=)
|
rs142063642
|
|
|
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
|
|
|
|
NM_172250.3(MMAA):c.867T>G (p.Thr289=)
|
|
|
|
NM_172250.3(MMAA):c.885G>A (p.Leu295=)
|
rs2126629113
|
|
|
NM_172250.3(MMAA):c.889G>A (p.Val297Met)
|
|
|
|
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)
|
rs1340736923
|
|
|
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
|
|
|
|
NM_172250.3(MMAA):c.924T>C (p.Ser308=)
|
rs2126629166
|
|
|
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
|
rs2126629176
|
|
|
NM_172250.3(MMAA):c.940del (p.Arg314fs)
|
|
|
|
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
|
rs773218154
|
|
|
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
|
|
|
|
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
|
|
|
|
NM_172250.3(MMAA):c.957C>T (p.Val319=)
|
|
|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|
|
NM_172250.3(MMAA):c.969+10C>T
|
rs1728168081
|
|
|
NM_172250.3(MMAA):c.969+15A>C
|
|
|
|
NM_172250.3(MMAA):c.969+15A>G
|
|
|
|
NM_172250.3(MMAA):c.969+18C>T
|
|
|
|
NM_172250.3(MMAA):c.969+20G>T
|
|
|
|
NM_172250.3(MMAA):c.969+9G>A
|
rs1007611523
|
|
|
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
|
|
|
|
NM_172250.3(MMAA):c.970-19G>T
|
|
|
|
NM_172250.3(MMAA):c.970-3dup
|
|
|
|
NM_172250.3(MMAA):c.970-4A>T
|
rs1728189053
|
|
|
NM_172250.3(MMAA):c.970-5G>T
|
|
|
|
NM_172250.3(MMAA):c.972A>G (p.Val324=)
|
rs2126629778
|
|
|
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
|
|
|
|
NM_172250.3(MMAA):c.99T>C (p.His33=)
|
rs2126617089
|
|
|
NM_177550.5(SLC13A5):c.1000G>T (p.Asp334Tyr)
|
rs1183731879
|
|
|
NM_177550.5(SLC13A5):c.1005C>A (p.Pro335=)
|
rs56224509
|
|
|
NM_177550.5(SLC13A5):c.1015C>A (p.Pro339Thr)
|
|
|
|
NM_177550.5(SLC13A5):c.1017C>G (p.Pro339=)
|
rs200365614
|
|
|
NM_177550.5(SLC13A5):c.102+11T>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+13del
|
rs2151505633
|
|
|
NM_177550.5(SLC13A5):c.102+19C>A
|
|
|
|
NM_177550.5(SLC13A5):c.102+20A>G
|
|
|
|
NM_177550.5(SLC13A5):c.102+9C>T
|
|
|
|
NM_177550.5(SLC13A5):c.102G>A (p.Lys34=)
|
rs2151505650
|
|
|
NM_177550.5(SLC13A5):c.103-10G>A
|
rs2151498872
|
|
|
NM_177550.5(SLC13A5):c.103-14G>A
|
|
|
|
NM_177550.5(SLC13A5):c.103-20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1052C>A (p.Thr351Lys)
|
|
|
|
NM_177550.5(SLC13A5):c.1053A>G (p.Thr351=)
|
|
|
|
NM_177550.5(SLC13A5):c.1055+10G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1055+12A>G
|
rs1567617699
|
|
|
NM_177550.5(SLC13A5):c.1055+14T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1056-15C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1056-1G>C
|
rs113208940
|
|
|
NM_177550.5(SLC13A5):c.1056-4C>A
|
rs763014412
|
|
|
NM_177550.5(SLC13A5):c.1056-5C>T
|
rs1597661291
|
|
|
NM_177550.5(SLC13A5):c.1056-6A>G
|
rs1597661297
|
|
|
NM_177550.5(SLC13A5):c.1071C>T (p.Ala357=)
|
|
|
|
NM_177550.5(SLC13A5):c.1087G>A (p.Val363Met)
|
rs2151485566
|
|
|
NM_177550.5(SLC13A5):c.1093A>C (p.Thr365Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.1094C>T (p.Thr365Ile)
|
rs760586654
|
|
|
NM_177550.5(SLC13A5):c.1096del (p.Leu366fs)
|
|
|
|
NM_177550.5(SLC13A5):c.1097T>C (p.Leu366Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.1098G>A (p.Leu366=)
|
|
|
|
NM_177550.5(SLC13A5):c.1098G>T (p.Leu366=)
|
rs1355898652
|
|
|
NM_177550.5(SLC13A5):c.10G>C (p.Ala4Pro)
|
rs2151505878
|
|
|
NM_177550.5(SLC13A5):c.1117C>T (p.Gln373Ter)
|
rs2151485506
|
|
|
NM_177550.5(SLC13A5):c.111G>C (p.Arg37Ser)
|
rs2151498848
|
|
|
NM_177550.5(SLC13A5):c.1126A>G (p.Lys376Glu)
|
|
|
|
NM_177550.5(SLC13A5):c.1137C>T (p.Phe379=)
|
|
|
|
NM_177550.5(SLC13A5):c.1139G>A (p.Arg380His)
|
rs747458897
|
|
|
NM_177550.5(SLC13A5):c.1139G>T (p.Arg380Leu)
|
rs747458897
|
|
|
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs)
|
rs1555541486
|
|
|
NM_177550.5(SLC13A5):c.1150G>A (p.Glu384Lys)
|
rs1461948332
|
|
|
NM_177550.5(SLC13A5):c.1156+11T>G
|
rs1172086493
|
|
|
NM_177550.5(SLC13A5):c.1156+1G>A
|
rs1555541483
|
|
|
NM_177550.5(SLC13A5):c.1156+1_1156+5del
|
|
|
|
NM_177550.5(SLC13A5):c.1156+20C>A
|
rs368150158
|
|
|
NM_177550.5(SLC13A5):c.1156+3A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1156+5G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1156+7C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1157-16T>G
|
|
|
|
NM_177550.5(SLC13A5):c.1157-19_1157-18insTGTA
|
|
|
|
NM_177550.5(SLC13A5):c.1157-4C>A
|
rs772441738
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[12]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[13]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[14]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[16]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[17]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[18]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[19]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[20]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[21]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[22]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[23]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[24]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[25]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[27]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[28]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[29]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[30]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[31]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[32]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[33]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[34]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[35]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[36]
|
rs200900896
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[38]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[8]
|
|
|
|
NM_177550.5(SLC13A5):c.1157-68GT[9]
|
|
|
|
NM_177550.5(SLC13A5):c.1162A>G (p.Lys388Glu)
|
rs756710649
|
|
|
NM_177550.5(SLC13A5):c.1178C>T (p.Pro393Leu)
|
rs1973458109
|
|
|
NM_177550.5(SLC13A5):c.1181C>T (p.Pro394Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1182T>A (p.Pro394=)
|
|
|
|
NM_177550.5(SLC13A5):c.1189C>T (p.Leu397=)
|
|
|
|
NM_177550.5(SLC13A5):c.1198A>C (p.Lys400Gln)
|
rs1597659809
|
|
|
NM_177550.5(SLC13A5):c.1199A>T (p.Lys400Met)
|
rs1973457144
|
|
|
NM_177550.5(SLC13A5):c.11C>T (p.Ala4Val)
|
rs1356594210
|
|
|
NM_177550.5(SLC13A5):c.1206C>G (p.Thr402=)
|
|
|
|
NM_177550.5(SLC13A5):c.1207_1217dup (p.Pro407fs)
|
rs863225447
|
|
|
NM_177550.5(SLC13A5):c.1219C>T (p.Pro407Ser)
|
rs974605915
|
|
|
NM_177550.5(SLC13A5):c.1231G>A (p.Val411Met)
|
rs1207618696
|
|
|
NM_177550.5(SLC13A5):c.1240C>G (p.Leu414Val)
|
rs1206208725
|
|
|
NM_177550.5(SLC13A5):c.1241T>C (p.Leu414Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.1242A>G (p.Leu414=)
|
|
|
|
NM_177550.5(SLC13A5):c.1248C>A (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.1248C>G (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.1248C>T (p.Gly416=)
|
rs139042926
|
|
|
NM_177550.5(SLC13A5):c.124A>C (p.Ile42Leu)
|
rs2151498818
|
|
|
NM_177550.5(SLC13A5):c.1252T>A (p.Phe418Ile)
|
|
|
|
NM_177550.5(SLC13A5):c.1258C>G (p.Leu420Val)
|
|
|
|
NM_177550.5(SLC13A5):c.1259T>C (p.Leu420Pro)
|
rs150738356
|
|
|
NM_177550.5(SLC13A5):c.1273G>A (p.Glu425Lys)
|
rs754804579
|
|
|
NM_177550.5(SLC13A5):c.1275+15C>T
|
rs2150966936
|
|
|
NM_177550.5(SLC13A5):c.1275+9T>A
|
|
|
|
NM_177550.5(SLC13A5):c.1275+9_1275+70del
|
rs2150966895
|
|
|
NM_177550.5(SLC13A5):c.1276-11G>A
|
rs1597657068
|
|
|
NM_177550.5(SLC13A5):c.1276-15C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
|
NM_177550.5(SLC13A5):c.1276-9G>T
|
|
|
|
NM_177550.5(SLC13A5):c.1290C>G (p.Ser430=)
|
rs756166033
|
|
|
NM_177550.5(SLC13A5):c.1291G>T (p.Val431Leu)
|
rs201036096
|
|
|
NM_177550.5(SLC13A5):c.1298T>C (p.Met433Thr)
|
rs1064796654
|
|
|
NM_177550.5(SLC13A5):c.1300G>A (p.Gly434Arg)
|
rs759705304
|
|
|
NM_177550.5(SLC13A5):c.1300G>C (p.Gly434Arg)
|
rs759705304
|
|
|
NM_177550.5(SLC13A5):c.1308_1322del (p.Gln436_Leu440del)
|
rs1197782289
|
|
|
NM_177550.5(SLC13A5):c.1333C>A (p.Pro445Thr)
|
rs373587508
|
|
|
NM_177550.5(SLC13A5):c.1335G>A (p.Pro445=)
|
rs138802643
|
|
|
NM_177550.5(SLC13A5):c.1335G>C (p.Pro445=)
|
rs138802643
|
|
|
NM_177550.5(SLC13A5):c.1341C>T (p.Ala447=)
|
|
|
|
NM_177550.5(SLC13A5):c.1348T>C (p.Leu450=)
|
|
|
|
NM_177550.5(SLC13A5):c.1349T>C (p.Leu450Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1356G>A (p.Leu452=)
|
|
|
|
NM_177550.5(SLC13A5):c.1357T>A (p.Ser453Thr)
|
rs2150964801
|
|
|
NM_177550.5(SLC13A5):c.1362G>C (p.Leu454Phe)
|
rs778880558
|
|
|
NM_177550.5(SLC13A5):c.1363C>T (p.Leu455Phe)
|
rs1386156410
|
|
|
NM_177550.5(SLC13A5):c.1371C>T (p.Ala457=)
|
|
|
|
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn)
|
rs2150964787
|
|
|
NM_177550.5(SLC13A5):c.137C>T (p.Ala46Val)
|
rs762903735
|
|
|
NM_177550.5(SLC13A5):c.1383G>A (p.Glu461=)
|
|
|
|
NM_177550.5(SLC13A5):c.1403C>A (p.Thr468Asn)
|
|
|
|
NM_177550.5(SLC13A5):c.1405A>G (p.Thr469Ala)
|
rs1475919318
|
|
|
NM_177550.5(SLC13A5):c.1411T>G (p.Leu471Val)
|
rs1209800037
|
|
|
NM_177550.5(SLC13A5):c.1412del (p.Leu471fs)
|
|
|
|
NM_177550.5(SLC13A5):c.1414T>C (p.Phe472Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1422C>T (p.Pro474=)
|
rs2150964713
|
|
|
NM_177550.5(SLC13A5):c.1423A>G (p.Ile475Val)
|
|
|
|
NM_177550.5(SLC13A5):c.1428T>C (p.Phe476=)
|
rs1450058801
|
|
|
NM_177550.5(SLC13A5):c.1437+15del
|
rs1555540915
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>A
|
|
|
|
NM_177550.5(SLC13A5):c.1437+20G>C
|
|
|
|
NM_177550.5(SLC13A5):c.1437+9C>T
|
rs1216705623
|
|
|
NM_177550.5(SLC13A5):c.1437G>A (p.Met479Ile)
|
|
|
|
NM_177550.5(SLC13A5):c.1438-19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.1438-2A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1438-3C>A
|
|
|
|
NM_177550.5(SLC13A5):c.1438-4G>T
|
|
|
|
NM_177550.5(SLC13A5):c.1438T>C (p.Ser480Pro)
|
rs2150961873
|
|
|
NM_177550.5(SLC13A5):c.1445C>T (p.Ser482Phe)
|
rs1236635295
|
|
|
NM_177550.5(SLC13A5):c.1454T>C (p.Leu485Pro)
|
rs148049520
|
|
|
NM_177550.5(SLC13A5):c.1457A>G (p.Asn486Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1462C>A (p.Leu488Met)
|
rs754295995
|
|
|
NM_177550.5(SLC13A5):c.1471A>C (p.Met491Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1475del (p.Leu492fs)
|
rs766330201
|
|
|
NM_177550.5(SLC13A5):c.1483_1491del (p.Thr495_Ser497del)
|
rs1255190713
|
|
|
NM_177550.5(SLC13A5):c.1484C>T (p.Thr495Ile)
|
|
|
|
NM_177550.5(SLC13A5):c.1494C>T (p.Ala498=)
|
rs1046475172
|
|
|
NM_177550.5(SLC13A5):c.1497C>A (p.Ser499=)
|
rs949451311
|
|
|
NM_177550.5(SLC13A5):c.1510T>C (p.Leu504=)
|
rs759151984
|
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
|
NM_177550.5(SLC13A5):c.1519G>T (p.Ala507Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1524C>T (p.Thr508=)
|
rs2150961768
|
|
|
NM_177550.5(SLC13A5):c.1536C>T (p.Ala512=)
|
rs1973282772
|
|
|
NM_177550.5(SLC13A5):c.1558C>T (p.Leu520Phe)
|
rs779246920
|
|
|
NM_177550.5(SLC13A5):c.1563G>A (p.Lys521=)
|
rs1597653033
|
|
|
NM_177550.5(SLC13A5):c.1564G>A (p.Val522Ile)
|
rs1221511903
|
|
|
NM_177550.5(SLC13A5):c.1573A>C (p.Met525Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.1575+4A>T
|
|
|
|
NM_177550.5(SLC13A5):c.1575+8A>G
|
|
|
|
NM_177550.5(SLC13A5):c.1576-20T>A
|
rs2150960911
|
|
|
NM_177550.5(SLC13A5):c.1576-4C>G
|
|
|
|
NM_177550.5(SLC13A5):c.1585G>A (p.Gly529Arg)
|
|
|
|
NM_177550.5(SLC13A5):c.1599C>A (p.Asn533Lys)
|
rs1973250595
|
|
|
NM_177550.5(SLC13A5):c.15_19del (p.Ser6fs)
|
|
|
|
NM_177550.5(SLC13A5):c.1600A>G (p.Ile534Val)
|
rs1973250507
|
|
|
NM_177550.5(SLC13A5):c.1602A>G (p.Ile534Met)
|
|
|
|
NM_177550.5(SLC13A5):c.1606G>A (p.Gly536Arg)
|
|
|
|
NM_177550.5(SLC13A5):c.1615T>C (p.Cys539Arg)
|
rs1597651569
|
|
|
NM_177550.5(SLC13A5):c.1622T>C (p.Phe541Ser)
|
|
|
|
NM_177550.5(SLC13A5):c.1622T>G (p.Phe541Cys)
|
|
|
|
NM_177550.5(SLC13A5):c.1624T>C (p.Leu542=)
|
|
|
|
NM_177550.5(SLC13A5):c.1632C>T (p.Val544=)
|
rs1597651519
|
|
|
NM_177550.5(SLC13A5):c.1643G>A (p.Gly548Glu)
|
|
|
|
NM_177550.5(SLC13A5):c.1687G>A (p.Val563Met)
|
rs1973247421
|
|
|
NM_177550.5(SLC13A5):c.168G>A (p.Leu56=)
|
|
|
|
NM_177550.5(SLC13A5):c.1696_1697del (p.His565_Ile566insTer)
|
rs1311685227
|
|
|
NM_177550.5(SLC13A5):c.169G>T (p.Ala57Ser)
|
rs1223073326
|
|
|
NM_177550.5(SLC13A5):c.1705T>C (p.Ter569Gln)
|
rs2150960732
|
|
|
NM_177550.5(SLC13A5):c.171T>C (p.Ala57=)
|
rs1379801780
|
|
|
NM_177550.5(SLC13A5):c.175_192del (p.Thr59_Val64del)
|
rs1973889353
|
|
|
NM_177550.5(SLC13A5):c.178T>C (p.Ser60Pro)
|
rs1973889704
|
|
|
NM_177550.5(SLC13A5):c.190G>A (p.Val64Ile)
|
rs376024540
|
|
|
NM_177550.5(SLC13A5):c.201C>T (p.Phe67=)
|
rs900258843
|
|
|
NM_177550.5(SLC13A5):c.20A>G (p.Tyr7Cys)
|
rs568118247
|
|
|
NM_177550.5(SLC13A5):c.215T>C (p.Ile72Thr)
|
|
|
|
NM_177550.5(SLC13A5):c.21T>C (p.Tyr7=)
|
|
|
|
NM_177550.5(SLC13A5):c.221A>G (p.Asp74Gly)
|
|
|
|
NM_177550.5(SLC13A5):c.231+12C>T
|
|
|
|
NM_177550.5(SLC13A5):c.231+20C>G
|
|
|
|
NM_177550.5(SLC13A5):c.232-14G>A
|
rs551601158
|
|
|
NM_177550.5(SLC13A5):c.232-2A>G
|
rs1973878360
|
|
|
NM_177550.5(SLC13A5):c.232-5T>A
|
|
|
|
NM_177550.5(SLC13A5):c.232-8_232-7delinsTA
|
rs2151498313
|
|
|
NM_177550.5(SLC13A5):c.234G>A (p.Val78=)
|
|
|
|
NM_177550.5(SLC13A5):c.237T>C (p.Cys79=)
|
rs768939788
|
|
|
NM_177550.5(SLC13A5):c.239T>C (p.Val80Ala)
|
rs930818882
|
|
|
NM_177550.5(SLC13A5):c.248T>G (p.Met83Arg)
|
rs1973877779
|
|
|
NM_177550.5(SLC13A5):c.24C>A (p.Val8=)
|
rs2151505851
|
|
|
NM_177550.5(SLC13A5):c.252G>A (p.Lys84=)
|
|
|
|
NM_177550.5(SLC13A5):c.253G>A (p.Asp85Asn)
|
rs2151498276
|
|
|
NM_177550.5(SLC13A5):c.25T>G (p.Ser9Ala)
|
rs2151505845
|
|
|
NM_177550.5(SLC13A5):c.262A>C (p.Met88Leu)
|
rs919457838
|
|
|
NM_177550.5(SLC13A5):c.267G>C (p.Leu89=)
|
|
|
|
NM_177550.5(SLC13A5):c.271C>T (p.Leu91=)
|
|
|
|
NM_177550.5(SLC13A5):c.276C>A (p.Gly92=)
|
rs771703938
|
|
|
NM_177550.5(SLC13A5):c.279C>T (p.Gly93=)
|
|
|
|
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr)
|
rs1597676768
|
|
|
NM_177550.5(SLC13A5):c.291C>T (p.Ala97=)
|
|
|
|
NM_177550.5(SLC13A5):c.303G>A (p.Glu101=)
|
|
|
|
NM_177550.5(SLC13A5):c.304C>T (p.Arg102Cys)
|
rs1435998726
|
|
|
NM_177550.5(SLC13A5):c.308G>A (p.Trp103Ter)
|
rs1597676674
|
|
|
NM_177550.5(SLC13A5):c.312C>A (p.Asn104Lys)
|
rs750520927
|
|
|
NM_177550.5(SLC13A5):c.312C>T (p.Asn104=)
|
|
|
|
NM_177550.5(SLC13A5):c.313C>A (p.Leu105Met)
|
rs765334582
|
|
|
NM_177550.5(SLC13A5):c.318C>T (p.His106=)
|
rs1973874419
|
|
|
NM_177550.5(SLC13A5):c.325A>G (p.Ile109Val)
|
rs1973874074
|
|
|
NM_177550.5(SLC13A5):c.327C>G (p.Ile109Met)
|
rs761010502
|
|
|
NM_177550.5(SLC13A5):c.334C>T (p.Arg112Cys)
|
rs372771266
|
|
|
NM_177550.5(SLC13A5):c.339G>A (p.Thr113=)
|
|
|
|
NM_177550.5(SLC13A5):c.356C>A (p.Ala119Asp)
|
|
|
|
NM_177550.5(SLC13A5):c.362C>T (p.Pro121Leu)
|
rs1973871631
|
|
|
NM_177550.5(SLC13A5):c.366A>G (p.Ala122=)
|
|
|
|
NM_177550.5(SLC13A5):c.367C>T (p.Arg123Trp)
|
rs754937425
|
|
|
NM_177550.5(SLC13A5):c.368+12T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+15T>C
|
|
|
|
NM_177550.5(SLC13A5):c.368+16C>G
|
|
|
|
NM_177550.5(SLC13A5):c.368+9G>T
|
|
|
|
NM_177550.5(SLC13A5):c.369-19C>G
|
|
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
|
NM_177550.5(SLC13A5):c.378G>C (p.Leu126=)
|
|
|
|
NM_177550.5(SLC13A5):c.382T>C (p.Phe128Leu)
|
rs771925824
|
|
|
NM_177550.5(SLC13A5):c.393C>T (p.Val131=)
|
|
|
|
NM_177550.5(SLC13A5):c.39C>G (p.Ser13=)
|
rs2151505818
|
|
|
NM_177550.5(SLC13A5):c.3G>A (p.Met1Ile)
|
rs1597686195
|
|
|
NM_177550.5(SLC13A5):c.414G>A (p.Trp138Ter)
|
|
|
|
NM_177550.5(SLC13A5):c.417C>T (p.Ile139=)
|
|
|
|
NM_177550.5(SLC13A5):c.426G>C (p.Thr142=)
|
|
|
|
NM_177550.5(SLC13A5):c.426G>T (p.Thr142=)
|
rs72836208
|
|
|
NM_177550.5(SLC13A5):c.429_437del (p.Thr144_Ala146del)
|
rs769931974
|
|
|
NM_177550.5(SLC13A5):c.435G>A (p.Thr145=)
|
|
|
|
NM_177550.5(SLC13A5):c.436G>C (p.Ala146Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met)
|
rs1223974189
|
|
|
NM_177550.5(SLC13A5):c.450C>T (p.Pro150=)
|
|
|
|
NM_177550.5(SLC13A5):c.451A>G (p.Ile151Val)
|
|
|
|
NM_177550.5(SLC13A5):c.454G>C (p.Val152Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.459G>A (p.Glu153=)
|
rs1057521689
|
|
|
NM_177550.5(SLC13A5):c.485_487dup (p.Thr162dup)
|
rs748215544
|
|
|
NM_177550.5(SLC13A5):c.486A>G (p.Thr162=)
|
rs1438628302
|
|
|
NM_177550.5(SLC13A5):c.487A>G (p.Ser163Gly)
|
rs1973790070
|
|
|
NM_177550.5(SLC13A5):c.48C>T (p.Ile16=)
|
|
|
|
NM_177550.5(SLC13A5):c.499G>C (p.Glu167Gln)
|
rs373010067
|
|
|
NM_177550.5(SLC13A5):c.503C>T (p.Ala168Val)
|
|
|
|
NM_177550.5(SLC13A5):c.512A>G (p.Glu171Gly)
|
rs1412352155
|
|
|
NM_177550.5(SLC13A5):c.517G>A (p.Val173Met)
|
rs2151494980
|
|
|
NM_177550.5(SLC13A5):c.51G>C (p.Leu17Phe)
|
rs941552722
|
|
|
NM_177550.5(SLC13A5):c.522C>G (p.Asp174Glu)
|
rs1160099071
|
|
|
NM_177550.5(SLC13A5):c.522C>T (p.Asp174=)
|
|
|
|
NM_177550.5(SLC13A5):c.526G>T (p.Gly176Cys)
|
rs1973787933
|
|
|
NM_177550.5(SLC13A5):c.547+19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.547+6C>A
|
|
|
|
NM_177550.5(SLC13A5):c.547+9C>T
|
rs1203815263
|
|
|
NM_177550.5(SLC13A5):c.548-10C>T
|
rs2151494144
|
|
|
NM_177550.5(SLC13A5):c.548-11G>C
|
|
|
|
NM_177550.5(SLC13A5):c.548-13G>C
|
|
|
|
NM_177550.5(SLC13A5):c.548-14T>G
|
|
|
|
NM_177550.5(SLC13A5):c.548-16G>A
|
|
|
|
NM_177550.5(SLC13A5):c.548-16G>T
|
|
|
|
NM_177550.5(SLC13A5):c.548-1G>A
|
|
|
|
NM_177550.5(SLC13A5):c.548-20C>T
|
|
|
|
NM_177550.5(SLC13A5):c.561T>A (p.Ile187=)
|
|
|
|
NM_177550.5(SLC13A5):c.561T>C (p.Ile187=)
|
|
|
|
NM_177550.5(SLC13A5):c.568G>A (p.Gly190Ser)
|
rs1973761446
|
|
|
NM_177550.5(SLC13A5):c.570C>A (p.Gly190=)
|
|
|
|
NM_177550.5(SLC13A5):c.570C>T (p.Gly190=)
|
|
|
|
NM_177550.5(SLC13A5):c.582G>C (p.Gly194=)
|
rs147260918
|
|
|
NM_177550.5(SLC13A5):c.601C>A (p.Arg201=)
|
|
|
|
NM_177550.5(SLC13A5):c.601C>T (p.Arg201Trp)
|
rs142320179
|
|
|
NM_177550.5(SLC13A5):c.608G>A (p.Arg203Lys)
|
|
|
|
NM_177550.5(SLC13A5):c.609G>A (p.Arg203=)
|
rs2151494038
|
|
|
NM_177550.5(SLC13A5):c.60C>G (p.Thr20=)
|
|
|
|
NM_177550.5(SLC13A5):c.61C>G (p.Pro21Ala)
|
rs1567628652
|
|
|
NM_177550.5(SLC13A5):c.623T>C (p.Met208Thr)
|
rs1973759255
|
|
|
NM_177550.5(SLC13A5):c.627C>A (p.Thr209=)
|
rs1259516551
|
|
|
NM_177550.5(SLC13A5):c.627C>T (p.Thr209=)
|
|
|
|
NM_177550.5(SLC13A5):c.629T>C (p.Leu210Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.643G>A (p.Ala215Thr)
|
rs1271011718
|
|
|
NM_177550.5(SLC13A5):c.644C>T (p.Ala215Val)
|
rs777563695
|
|
|
NM_177550.5(SLC13A5):c.646del (p.Ala216fs)
|
|
|
|
NM_177550.5(SLC13A5):c.648C>T (p.Ala216=)
|
|
|
|
NM_177550.5(SLC13A5):c.657G>A (p.Gly219=)
|
|
|
|
NM_177550.5(SLC13A5):c.664G>A (p.Ala222Thr)
|
rs201674669
|
|
|
NM_177550.5(SLC13A5):c.666C>T (p.Ala222=)
|
rs1973756878
|
|
|
NM_177550.5(SLC13A5):c.669C>A (p.Thr223=)
|
rs1425515226
|
|
|
NM_177550.5(SLC13A5):c.669C>T (p.Thr223=)
|
rs1425515226
|
|
|
NM_177550.5(SLC13A5):c.66C>T (p.Leu22=)
|
|
|
|
NM_177550.5(SLC13A5):c.705C>T (p.Gly235=)
|
rs1375520259
|
|
|
NM_177550.5(SLC13A5):c.714C>A (p.Asn238Lys)
|
rs754553205
|
|
|
NM_177550.5(SLC13A5):c.715G>A (p.Glu239Lys)
|
|
|
|
NM_177550.5(SLC13A5):c.716+11_716+21del
|
rs554361040
|
|
|
NM_177550.5(SLC13A5):c.716+14C>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+15G>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+19C>T
|
|
|
|
NM_177550.5(SLC13A5):c.716+8C>T
|
rs746595823
|
|
|
NM_177550.5(SLC13A5):c.716A>G (p.Glu239Gly)
|
rs1973754222
|
|
|
NM_177550.5(SLC13A5):c.717-18G>T
|
|
|
|
NM_177550.5(SLC13A5):c.717-20G>A
|
rs777013140
|
|
|
NM_177550.5(SLC13A5):c.717G>A (p.Glu239=)
|
|
|
|
NM_177550.5(SLC13A5):c.718T>C (p.Leu240=)
|
|
|
|
NM_177550.5(SLC13A5):c.723T>G (p.Phe241Leu)
|
|
|
|
NM_177550.5(SLC13A5):c.72G>A (p.Leu24=)
|
|
|
|
NM_177550.5(SLC13A5):c.737A>G (p.Asp246Gly)
|
rs778721131
|
|
|
NM_177550.5(SLC13A5):c.748T>C (p.Phe250Leu)
|
rs2151492071
|
|
|
NM_177550.5(SLC13A5):c.750T>C (p.Phe250=)
|
rs2151492066
|
|
|
NM_177550.5(SLC13A5):c.758G>A (p.Trp253Ter)
|
|
|
|
NM_177550.5(SLC13A5):c.761T>G (p.Phe254Cys)
|
rs763190407
|
|
|
NM_177550.5(SLC13A5):c.781A>G (p.Met261Val)
|
|
|
|
NM_177550.5(SLC13A5):c.793C>T (p.Leu265=)
|
|
|
|
NM_177550.5(SLC13A5):c.807G>T (p.Trp269Cys)
|
|
|
|
NM_177550.5(SLC13A5):c.812G>A (p.Trp271Ter)
|
|
|
|
NM_177550.5(SLC13A5):c.816C>T (p.Leu272=)
|
|
|
|
NM_177550.5(SLC13A5):c.822T>C (p.Phe274=)
|
|
|
|
NM_177550.5(SLC13A5):c.831G>A (p.Met277Ile)
|
rs1973697429
|
|
|
NM_177550.5(SLC13A5):c.839+16T>C
|
|
|
|
NM_177550.5(SLC13A5):c.839+1G>A
|
rs1973697345
|
|
|
NM_177550.5(SLC13A5):c.839+4A>C
|
rs1973697168
|
|
|
NM_177550.5(SLC13A5):c.839+7T>G
|
|
|
|
NM_177550.5(SLC13A5):c.839+8T>C
|
|
|
|
NM_177550.5(SLC13A5):c.840-2A>G
|
|
|
|
NM_177550.5(SLC13A5):c.849G>A (p.Lys283=)
|
rs141681787
|
|
|
NM_177550.5(SLC13A5):c.858C>T (p.Gly286=)
|
|
|
|
NM_177550.5(SLC13A5):c.85_101delinsT (p.Ile29fs)
|
|
|
|
NM_177550.5(SLC13A5):c.872G>A (p.Ser291Asn)
|
|
|
|
NM_177550.5(SLC13A5):c.882C>A (p.Asn294Lys)
|
|
|
|
NM_177550.5(SLC13A5):c.883G>A (p.Glu295Lys)
|
rs749077002
|
|
|
NM_177550.5(SLC13A5):c.889G>A (p.Ala297Thr)
|
rs1057524830
|
|
|
NM_177550.5(SLC13A5):c.89T>C (p.Leu30Pro)
|
|
|
|
NM_177550.5(SLC13A5):c.8C>G (p.Ser3Trp)
|
|
|
|
NM_177550.5(SLC13A5):c.903G>A (p.Val301=)
|
|
|
|
NM_177550.5(SLC13A5):c.90G>A (p.Leu30=)
|
|
|
|
NM_177550.5(SLC13A5):c.919C>G (p.Arg307Gly)
|
rs769595777
|
|
|
NM_177550.5(SLC13A5):c.919C>T (p.Arg307Trp)
|
rs769595777
|
|
|
NM_177550.5(SLC13A5):c.930del (p.Leu312fs)
|
rs1973546077
|
|
|
NM_177550.5(SLC13A5):c.944C>A (p.Ala315Glu)
|
rs138841868
|
|
|
NM_177550.5(SLC13A5):c.949A>T (p.Ile317Phe)
|
|
|
|
NM_177550.5(SLC13A5):c.981C>T (p.Val327=)
|
rs2151487186
|
|
|
NM_177550.5(SLC13A5):c.987G>A (p.Leu329=)
|
rs1597663120
|
|
|
NM_177550.5(SLC13A5):c.98C>A (p.Ala33Asp)
|
|
|
|
NM_177550.5(SLC13A5):c.9G>A (p.Ser3=)
|
rs1318559097
|
|
|
NM_183050.4(BCKDHB):c.1002A>G (p.Thr334=)
|
rs2127965195
|
|
|
NM_183050.4(BCKDHB):c.1005C>A (p.Gly335=)
|
rs1562193967
|
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
|
NM_183050.4(BCKDHB):c.1007dup (p.Phe337fs)
|
|
|
|
NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)
|
|
|
|
NM_183050.4(BCKDHB):c.1014A>G (p.Ala338=)
|
rs904277226
|
|
|
NM_183050.4(BCKDHB):c.101del (p.Gly34fs)
|
|
|
|
NM_183050.4(BCKDHB):c.1022T>A (p.Ile341Asn)
|
rs796051939
|
|
|
NM_183050.4(BCKDHB):c.1029T>C (p.Ser343=)
|
|
|
|
NM_183050.4(BCKDHB):c.102C>T (p.Gly34=)
|
rs1294903760
|
|
|
NM_183050.4(BCKDHB):c.1032A>G (p.Thr344=)
|
rs148902222
|
|
|
NM_183050.4(BCKDHB):c.1037A>G (p.Gln346Arg)
|
rs2127965290
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>C
|
|
|
|
NM_183050.4(BCKDHB):c.1038+20T>G
|
|
|
|
NM_183050.4(BCKDHB):c.1038+5A>T
|
|
|
|
NM_183050.4(BCKDHB):c.1038+8A>T
|
rs1777830129
|
|
|
NM_183050.4(BCKDHB):c.1039-10C>G
|
rs760262704
|
|
|
NM_183050.4(BCKDHB):c.1039-10_1039-9del
|
|
|
|
NM_183050.4(BCKDHB):c.1039-13A>C
|
|
|
|
NM_183050.4(BCKDHB):c.1039-15T>C
|
|
|
|
NM_183050.4(BCKDHB):c.1039-17C>A
|
|
|
|
NM_183050.4(BCKDHB):c.1039-5T>C
|
rs879095937
|
|
|
NM_183050.4(BCKDHB):c.1039-9dup
|
rs2128020517
|
|
|
NM_183050.4(BCKDHB):c.1041G>A (p.Glu347=)
|
rs2128020526
|
|
|
NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)
|
rs989873156
|
|
|
NM_183050.4(BCKDHB):c.1042G>T (p.Glu348Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)
|
rs398124562
|
|
|
NM_183050.4(BCKDHB):c.1059A>G (p.Leu353=)
|
rs1770035632
|
|
|
NM_183050.4(BCKDHB):c.1062G>A (p.Glu354=)
|
|
|
|
NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)
|
rs869312129
|
|
|
NM_183050.4(BCKDHB):c.1068T>C (p.Pro356=)
|
rs1582600488
|
|
|
NM_183050.4(BCKDHB):c.1070T>C (p.Ile357Thr)
|
rs2128020569
|
|
|
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs)
|
rs1769085821
|
|
|
NM_183050.4(BCKDHB):c.1092C>T (p.Asp364=)
|
rs2128020582
|
|
|
NM_183050.4(BCKDHB):c.1095A>G (p.Thr365=)
|
rs2128020590
|
|
|
NM_183050.4(BCKDHB):c.1095_1096del (p.Pro366fs)
|
|
|
|
NM_183050.4(BCKDHB):c.1097C>T (p.Pro366Leu)
|
rs1770038350
|
|
|
NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)
|
rs774255890
|
|
|
NM_183050.4(BCKDHB):c.1107C>T (p.His369=)
|
rs1582600540
|
|
|
NM_183050.4(BCKDHB):c.1115A>T (p.Glu372Val)
|
rs1554216344
|
|
|
NM_183050.4(BCKDHB):c.1119A>G (p.Pro373=)
|
|
|
|
NM_183050.4(BCKDHB):c.1128C>T (p.Ile376=)
|
rs1035866627
|
|
|
NM_183050.4(BCKDHB):c.1130C>T (p.Pro377Leu)
|
rs1554216354
|
|
|
NM_183050.4(BCKDHB):c.1133A>G (p.Asp378Gly)
|
rs1185514016
|
|
|
NM_183050.4(BCKDHB):c.1137A>G (p.Lys379=)
|
|
|
|
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)
|
rs190867671
|
|
|
NM_183050.4(BCKDHB):c.1149T>C (p.Tyr383=)
|
|
|
|
NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)
|
|
|
|
NM_183050.4(BCKDHB):c.1162A>G (p.Lys388Glu)
|
|
|
|
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
|
|
|
|
NM_183050.4(BCKDHB):c.117C>T (p.Ala39=)
|
rs767901122
|
|
|
NM_183050.4(BCKDHB):c.120G>A (p.Ala40=)
|
rs2127699065
|
|
|
NM_183050.4(BCKDHB):c.120G>T (p.Ala40=)
|
rs2127699065
|
|
|
NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)
|
|
|
|
NM_183050.4(BCKDHB):c.126C>G (p.Val42=)
|
rs2127699088
|
|
|
NM_183050.4(BCKDHB):c.12A>G (p.Val4=)
|
rs2127698647
|
|
|
NM_183050.4(BCKDHB):c.131A>G (p.Asp44Gly)
|
rs2127699100
|
|
|
NM_183050.4(BCKDHB):c.135G>A (p.Ala45=)
|
rs777673541
|
|
|
NM_183050.4(BCKDHB):c.138C>T (p.Ala46=)
|
|
|
|
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
|
|
|
|
NM_183050.4(BCKDHB):c.144_145delinsAA (p.Arg48_Arg49=)
|
rs2127699136
|
|
|
NM_183050.4(BCKDHB):c.145C>A (p.Arg49=)
|
|
|
|
NM_183050.4(BCKDHB):c.15G>A (p.Ala5=)
|
rs772066588
|
|
|
NM_183050.4(BCKDHB):c.15G>C (p.Ala5=)
|
rs772066588
|
|
|
NM_183050.4(BCKDHB):c.165T>G (p.Thr55=)
|
rs2127699201
|
|
|
NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)
|
rs1554181192
|
|
|
NM_183050.4(BCKDHB):c.171G>C (p.Gln57His)
|
rs773031829
|
|
|
NM_183050.4(BCKDHB):c.173C>G (p.Pro58Arg)
|
|
|
|
NM_183050.4(BCKDHB):c.174A>G (p.Pro58=)
|
rs1769093743
|
|
|
NM_183050.4(BCKDHB):c.18G>A (p.Ala6=)
|
rs2127698696
|
|
|
NM_183050.4(BCKDHB):c.18G>C (p.Ala6=)
|
rs2127698696
|
|
|
NM_183050.4(BCKDHB):c.18G>T (p.Ala6=)
|
rs2127698696
|
|
|
NM_183050.4(BCKDHB):c.195C>G (p.Tyr65Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.196+10G>A
|
rs2127699369
|
|
|
NM_183050.4(BCKDHB):c.196+10G>C
|
|
|
|
NM_183050.4(BCKDHB):c.196+11G>A
|
|
|
|
NM_183050.4(BCKDHB):c.196+13A>G
|
|
|
|
NM_183050.4(BCKDHB):c.196+20A>T
|
|
|
|
NM_183050.4(BCKDHB):c.196+5G>A
|
rs398124568
|
|
|
NM_183050.4(BCKDHB):c.196+7C>T
|
rs753090498
|
|
|
NM_183050.4(BCKDHB):c.196+8C>G
|
rs1337392511
|
|
|
NM_183050.4(BCKDHB):c.196G>A (p.Gly66Arg)
|
rs1328608014
|
|
|
NM_183050.4(BCKDHB):c.196G>C (p.Gly66Arg)
|
rs1328608014
|
|
|
NM_183050.4(BCKDHB):c.196G>T (p.Gly66Trp)
|
rs1328608014
|
|
|
NM_183050.4(BCKDHB):c.197-11G>A
|
|
|
|
NM_183050.4(BCKDHB):c.197-15_197-14insA
|
|
|
|
NM_183050.4(BCKDHB):c.197-1G>C
|
|
|
|
NM_183050.4(BCKDHB):c.197-2A>C
|
|
|
|
NM_183050.4(BCKDHB):c.197-5C>T
|
rs1374556799
|
|
|
NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)
|
|
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
|
NM_183050.4(BCKDHB):c.200A>G (p.Gln67Arg)
|
rs2127726102
|
|
|
NM_183050.4(BCKDHB):c.203C>T (p.Thr68Ile)
|
|
|
|
NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)
|
|
|
|
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs)
|
rs2127698713
|
|
|
NM_183050.4(BCKDHB):c.228T>A (p.Ser76=)
|
rs761814478
|
|
|
NM_183050.4(BCKDHB):c.234_249del (p.Ser79fs)
|
rs2127726128
|
|
|
NM_183050.4(BCKDHB):c.235del (p.Ser79fs)
|
|
|
|
NM_183050.4(BCKDHB):c.238G>A (p.Ala80Thr)
|
|
|
|
NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)
|
|
|
|
NM_183050.4(BCKDHB):c.241T>C (p.Leu81=)
|
|
|
|
NM_183050.4(BCKDHB):c.24C>A (p.Ala8=)
|
rs558448066
|
|
|
NM_183050.4(BCKDHB):c.24C>G (p.Ala8=)
|
rs558448066
|
|
|
NM_183050.4(BCKDHB):c.253T>C (p.Leu85=)
|
rs780890874
|
|
|
NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)
|
rs571728255
|
|
|
NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs)
|
rs2127698743
|
|
|
NM_183050.4(BCKDHB):c.267T>C (p.Pro89=)
|
rs1582191955
|
|
|
NM_183050.4(BCKDHB):c.267T>G (p.Pro89=)
|
|
|
|
NM_183050.4(BCKDHB):c.270T>C (p.Thr90=)
|
|
|
|
NM_183050.4(BCKDHB):c.272del (p.Ala91fs)
|
rs2127726212
|
|
|
NM_183050.4(BCKDHB):c.274+10A>T
|
rs2127726226
|
|
|
NM_183050.4(BCKDHB):c.274+13T>C
|
|
|
|
NM_183050.4(BCKDHB):c.274+1G>T
|
|
|
|
NM_183050.4(BCKDHB):c.274+2T>C
|
|
|
|
NM_183050.4(BCKDHB):c.274+5C>T
|
rs1770414545
|
|
|
NM_183050.4(BCKDHB):c.274+7C>T
|
rs771730316
|
|
|
NM_183050.4(BCKDHB):c.274+8T>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-10T>C
|
rs2127727828
|
|
|
NM_183050.4(BCKDHB):c.275-12A>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-16A>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-17T>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-20A>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-20A>G
|
|
|
|
NM_183050.4(BCKDHB):c.275-4del
|
|
|
|
NM_183050.4(BCKDHB):c.275-5T>C
|
|
|
|
NM_183050.4(BCKDHB):c.275-8T>G
|
|
|
|
NM_183050.4(BCKDHB):c.275-9G>A
|
|
|
|
NM_183050.4(BCKDHB):c.27C>G (p.Gly9=)
|
rs1024423494
|
|
|
NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)
|
rs1380402024
|
|
|
NM_183050.4(BCKDHB):c.285T>C (p.Gly95=)
|
rs2127727865
|
|
|
NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)
|
|
|
|
NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)
|
rs940391887
|
|
|
NM_183050.4(BCKDHB):c.301G>A (p.Gly101Ser)
|
rs1770499193
|
|
|
NM_183050.4(BCKDHB):c.312T>C (p.Phe104=)
|
rs745368116
|
|
|
NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)
|
rs1770499965
|
|
|
NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)
|
|
|
|
NM_183050.4(BCKDHB):c.320C>G (p.Thr107Ser)
|
|
|
|
NM_183050.4(BCKDHB):c.321T>C (p.Thr107=)
|
|
|
|
NM_183050.4(BCKDHB):c.322dup (p.Val108fs)
|
rs2127727907
|
|
|
NM_183050.4(BCKDHB):c.329_330delinsAA (p.Leu110Ter)
|
rs2127727924
|
|
|
NM_183050.4(BCKDHB):c.331C>A (p.Arg111=)
|
rs371117671
|
|
|
NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)
|
rs371117671
|
|
|
NM_183050.4(BCKDHB):c.333A>G (p.Arg111=)
|
rs1582194998
|
|
|
NM_183050.4(BCKDHB):c.336C>T (p.Asp112=)
|
|
|
|
NM_183050.4(BCKDHB):c.338A>G (p.Lys113Arg)
|
rs770263755
|
|
|
NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)
|
|
|
|
NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)
|
|
|
|
NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)
|
rs755140913
|
|
|
NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)
|
rs398124573
|
|
|
NM_183050.4(BCKDHB):c.343+16T>C
|
|
|
|
NM_183050.4(BCKDHB):c.343+17A>G
|
|
|
|
NM_183050.4(BCKDHB):c.343+1G>C
|
rs1770503105
|
|
|
NM_183050.4(BCKDHB):c.343+2T>G
|
rs1554184237
|
|
|
NM_183050.4(BCKDHB):c.343+2dup
|
|
|
|
NM_183050.4(BCKDHB):c.344-19T>C
|
|
|
|
NM_183050.4(BCKDHB):c.344-4T>G
|
rs2127773306
|
|
|
NM_183050.4(BCKDHB):c.344-4dup
|
|
|
|
NM_183050.4(BCKDHB):c.344-7T>C
|
rs1562102564
|
|
|
NM_183050.4(BCKDHB):c.348del (p.Asp117fs)
|
rs1400121541
|
|
|
NM_183050.4(BCKDHB):c.349G>A (p.Asp117Asn)
|
|
|
|
NM_183050.4(BCKDHB):c.352dup (p.Arg118fs)
|
|
|
|
NM_183050.4(BCKDHB):c.360T>C (p.Phe120=)
|
rs770355362
|
|
|
NM_183050.4(BCKDHB):c.367C>T (p.Pro123Ser)
|
|
|
|
NM_183050.4(BCKDHB):c.368del (p.Pro123fs)
|
rs1085307058
|
|
|
NM_183050.4(BCKDHB):c.369A>G (p.Pro123=)
|
rs891015474
|
|
|
NM_183050.4(BCKDHB):c.370T>C (p.Leu124=)
|
rs2127773376
|
|
|
NM_183050.4(BCKDHB):c.372G>A (p.Leu124=)
|
|
|
|
NM_183050.4(BCKDHB):c.378A>G (p.Glu126=)
|
rs770996331
|
|
|
NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)
|
|
|
|
NM_183050.4(BCKDHB):c.389T>C (p.Val130Ala)
|
|
|
|
NM_183050.4(BCKDHB):c.392G>T (p.Gly131Val)
|
rs774472182
|
|
|
NM_183050.4(BCKDHB):c.396del (p.Phe132fs)
|
rs1562102740
|
|
|
NM_183050.4(BCKDHB):c.398G>A (p.Gly133Glu)
|
rs1772648897
|
|
|
NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)
|
|
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
|
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu)
|
rs776631396
|
|
|
NM_183050.4(BCKDHB):c.420A>C (p.Gly140=)
|
|
|
|
NM_183050.4(BCKDHB):c.426T>C (p.Thr142=)
|
|
|
|
NM_183050.4(BCKDHB):c.426T>G (p.Thr142=)
|
|
|
|
NM_183050.4(BCKDHB):c.429C>A (p.Ala143=)
|
rs1582272242
|
|
|
NM_183050.4(BCKDHB):c.429C>T (p.Ala143=)
|
rs1582272242
|
|
|
NM_183050.4(BCKDHB):c.42C>T (p.Leu14=)
|
rs2127698794
|
|
|
NM_183050.4(BCKDHB):c.432T>C (p.Ile144=)
|
rs2127773487
|
|
|
NM_183050.4(BCKDHB):c.435G>T (p.Ala145=)
|
rs370267903
|
|
|
NM_183050.4(BCKDHB):c.444G>C (p.Gln148His)
|
rs2127773506
|
|
|
NM_183050.4(BCKDHB):c.454T>G (p.Tyr152Asp)
|
rs2127773518
|
|
|
NM_183050.4(BCKDHB):c.464_465delinsGG (p.Pro155Arg)
|
rs2127773530
|
|
|
NM_183050.4(BCKDHB):c.468A>C (p.Ala156=)
|
|
|
|
NM_183050.4(BCKDHB):c.468A>G (p.Ala156=)
|
|
|
|
NM_183050.4(BCKDHB):c.474T>C (p.Asp158=)
|
rs2127773553
|
|
|
NM_183050.4(BCKDHB):c.477+10T>A
|
|
|
|
NM_183050.4(BCKDHB):c.477+13A>G
|
|
|
|
NM_183050.4(BCKDHB):c.477+14C>A
|
|
|
|
NM_183050.4(BCKDHB):c.477+15_477+16insAA
|
|
|
|
NM_183050.4(BCKDHB):c.477+19C>G
|
|
|
|
NM_183050.4(BCKDHB):c.477+1G>A
|
rs1002472211
|
|
|
NM_183050.4(BCKDHB):c.477+20T>G
|
|
|
|
NM_183050.4(BCKDHB):c.477+7G>A
|
rs2127773561
|
|
|
NM_183050.4(BCKDHB):c.478-11C>G
|
|
|
|
NM_183050.4(BCKDHB):c.478-13_478-10del
|
|
|
|
NM_183050.4(BCKDHB):c.478-15C>G
|
|
|
|
NM_183050.4(BCKDHB):c.478-15C>T
|
rs772227275
|
|
|
NM_183050.4(BCKDHB):c.478-16T>G
|
|
|
|
NM_183050.4(BCKDHB):c.478-17T>C
|
|
|
|
NM_183050.4(BCKDHB):c.478-19C>G
|
|
|
|
NM_183050.4(BCKDHB):c.478-4T>G
|
|
|
|
NM_183050.4(BCKDHB):c.478-6C>T
|
rs879247086
|
|
|
NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu)
|
rs537680296
|
|
|
NM_183050.4(BCKDHB):c.483T>C (p.Val161=)
|
rs2127775341
|
|
|
NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)
|
rs1057516799
|
|
|
NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)
|
|
|
|
NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)
|
rs998893388
|
|
|
NM_183050.4(BCKDHB):c.496A>T (p.Lys166Ter)
|
rs1772735425
|
|
|
NM_183050.4(BCKDHB):c.497A>T (p.Lys166Met)
|
|
|
|
NM_183050.4(BCKDHB):c.498G>A (p.Lys166=)
|
|
|
|
NM_183050.4(BCKDHB):c.501T>C (p.Tyr167=)
|
|
|
|
NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)
|
rs749033513
|
|
|
NM_183050.4(BCKDHB):c.504C>T (p.Arg168=)
|
rs770906360
|
|
|
NM_183050.4(BCKDHB):c.507T>C (p.Tyr169=)
|
rs2127775476
|
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
|
NM_183050.4(BCKDHB):c.508_513del (p.Arg170_Ser171del)
|
|
|
|
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro)
|
rs371518124
|
|
|
NM_183050.4(BCKDHB):c.510C>T (p.Arg170=)
|
|
|
|
NM_183050.4(BCKDHB):c.516G>A (p.Gly172=)
|
rs2127775531
|
|
|
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)
|
rs376293687
|
|
|
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)
|
rs376293687
|
|
|
NM_183050.4(BCKDHB):c.525T>C (p.Phe175=)
|
rs2127775566
|
|
|
NM_183050.4(BCKDHB):c.525del (p.Phe175fs)
|
|
|
|
NM_183050.4(BCKDHB):c.525dup (p.Asn176Ter)
|
rs2127775550
|
|
|
NM_183050.4(BCKDHB):c.532G>T (p.Gly178Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.534A>G (p.Gly178=)
|
rs1582275612
|
|
|
NM_183050.4(BCKDHB):c.537C>T (p.Ser179=)
|
rs1260482947
|
|
|
NM_183050.4(BCKDHB):c.540C>T (p.Leu180=)
|
|
|
|
NM_183050.4(BCKDHB):c.546C>T (p.Ile182=)
|
|
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
|
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln)
|
rs79761867
|
|
|
NM_183050.4(BCKDHB):c.549G>C (p.Arg183=)
|
|
|
|
NM_183050.4(BCKDHB):c.549G>T (p.Arg183=)
|
|
|
|
NM_183050.4(BCKDHB):c.550del (p.Ser184fs)
|
|
|
|
NM_183050.4(BCKDHB):c.552C>T (p.Ser184=)
|
|
|
|
NM_183050.4(BCKDHB):c.555T>A (p.Pro185=)
|
rs749123579
|
|
|
NM_183050.4(BCKDHB):c.561C>T (p.Gly187=)
|
|
|
|
NM_183050.4(BCKDHB):c.569G>C (p.Gly190Ala)
|
|
|
|
NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)
|
|
|
|
NM_183050.4(BCKDHB):c.576G>A (p.Gly192=)
|
rs2127775867
|
|
|
NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)
|
rs1410520713
|
|
|
NM_183050.4(BCKDHB):c.580C>T (p.Leu194Phe)
|
|
|
|
NM_183050.4(BCKDHB):c.582C>G (p.Leu194=)
|
rs1772747208
|
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
|
NM_183050.4(BCKDHB):c.584A>G (p.Tyr195Cys)
|
|
|
|
NM_183050.4(BCKDHB):c.585T>A (p.Tyr195Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.591T>A (p.Ser197=)
|
|
|
|
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs)
|
rs398124586
|
|
|
NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)
|
rs398124587
|
|
|
NM_183050.4(BCKDHB):c.600T>G (p.Pro200=)
|
rs1031182895
|
|
|
NM_183050.4(BCKDHB):c.604G>A (p.Ala202Thr)
|
|
|
|
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)
|
rs1210649507
|
|
|
NM_183050.4(BCKDHB):c.617A>C (p.His206Pro)
|
rs1562104694
|
|
|
NM_183050.4(BCKDHB):c.633+14T>C
|
|
|
|
NM_183050.4(BCKDHB):c.633+15G>A
|
|
|
|
NM_183050.4(BCKDHB):c.634-10G>A
|
rs2127779093
|
|
|
NM_183050.4(BCKDHB):c.634-12C>A
|
|
|
|
NM_183050.4(BCKDHB):c.634-13T>C
|
|
|
|
NM_183050.4(BCKDHB):c.634-14del
|
|
|
|
NM_183050.4(BCKDHB):c.634-16A>C
|
|
|
|
NM_183050.4(BCKDHB):c.634-20A>T
|
|
|
|
NM_183050.4(BCKDHB):c.634-2A>G
|
|
|
|
NM_183050.4(BCKDHB):c.634-4G>C
|
|
|
|
NM_183050.4(BCKDHB):c.634-5del
|
rs1467662033
|
|
|
NM_183050.4(BCKDHB):c.634-6T>C
|
rs1332095038
|
|
|
NM_183050.4(BCKDHB):c.63G>C (p.Gly21=)
|
rs368345065
|
|
|
NM_183050.4(BCKDHB):c.645C>T (p.Pro215=)
|
|
|
|
NM_183050.4(BCKDHB):c.646A>G (p.Arg216Gly)
|
|
|
|
NM_183050.4(BCKDHB):c.651C>T (p.Ser217=)
|
rs1220450249
|
|
|
NM_183050.4(BCKDHB):c.657C>T (p.Phe219=)
|
rs2127779150
|
|
|
NM_183050.4(BCKDHB):c.658C>T (p.Gln220Ter)
|
rs1772902148
|
|
|
NM_183050.4(BCKDHB):c.662_663del (p.Ala221fs)
|
|
|
|
NM_183050.4(BCKDHB):c.667G>T (p.Gly223Ter)
|
rs1248040495
|
|
|
NM_183050.4(BCKDHB):c.673C>G (p.Leu225Val)
|
|
|
|
NM_183050.4(BCKDHB):c.678G>A (p.Leu226=)
|
rs2127779199
|
|
|
NM_183050.4(BCKDHB):c.681A>G (p.Ser227=)
|
|
|
|
NM_183050.4(BCKDHB):c.686T>C (p.Ile229Thr)
|
|
|
|
NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.699T>C (p.Asn233=)
|
|
|
|
NM_183050.4(BCKDHB):c.6G>A (p.Ala2=)
|
rs2127698622
|
|
|
NM_183050.4(BCKDHB):c.6G>T (p.Ala2=)
|
rs2127698622
|
|
|
NM_183050.4(BCKDHB):c.702T>C (p.Pro234=)
|
|
|
|
NM_183050.4(BCKDHB):c.702T>G (p.Pro234=)
|
|
|
|
NM_183050.4(BCKDHB):c.705T>C (p.Cys235=)
|
|
|
|
NM_183050.4(BCKDHB):c.708A>C (p.Ile236=)
|
|
|
|
NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer)
|
rs1582146989
|
|
|
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter)
|
rs1167005638
|
|
|
NM_183050.4(BCKDHB):c.721A>T (p.Lys241Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.722_731dup (p.Tyr244Ter)
|
|
|
|
NM_183050.4(BCKDHB):c.726A>G (p.Ile242Met)
|
|
|
|
NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)
|
rs2127698878
|
|
|
NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)
|
rs1057516572
|
|
|
NM_183050.4(BCKDHB):c.742+12C>A
|
|
|
|
NM_183050.4(BCKDHB):c.742+17T>G
|
|
|
|
NM_183050.4(BCKDHB):c.742+18T>G
|
|
|
|
NM_183050.4(BCKDHB):c.742+1G>A
|
rs1554190322
|
|
|
NM_183050.4(BCKDHB):c.742+8T>C
|
|
|
|
NM_183050.4(BCKDHB):c.742+9T>G
|
rs2127779389
|
|
|
NM_183050.4(BCKDHB):c.743-12T>C
|
|
|
|
NM_183050.4(BCKDHB):c.743-15C>G
|
|
|
|
NM_183050.4(BCKDHB):c.743-15C>T
|
|
|
|
NM_183050.4(BCKDHB):c.743-15del
|
rs749321740
|
|
|
NM_183050.4(BCKDHB):c.743-17T>A
|
|
|
|
NM_183050.4(BCKDHB):c.743-18T>C
|
|
|
|
NM_183050.4(BCKDHB):c.743-19T>A
|
|
|
|
NM_183050.4(BCKDHB):c.743-19T>C
|
|
|
|
NM_183050.4(BCKDHB):c.743-20T>C
|
|
|
|
NM_183050.4(BCKDHB):c.743-6A>G
|
rs759281718
|
|
|
NM_183050.4(BCKDHB):c.743-8G>A
|
rs765391530
|
|
|
NM_183050.4(BCKDHB):c.743-8G>C
|
rs765391530
|
|
|
NM_183050.4(BCKDHB):c.743-9T>G
|
|
|
|
NM_183050.4(BCKDHB):c.745G>T (p.Glu249Ter)
|
rs1774361781
|
|
|
NM_183050.4(BCKDHB):c.747A>G (p.Glu249=)
|
rs764125560
|
|
|
NM_183050.4(BCKDHB):c.748G>T (p.Glu250Ter)
|
rs398124592
|
|
|
NM_183050.4(BCKDHB):c.753C>A (p.Val251=)
|
rs1582341919
|
|
|
NM_183050.4(BCKDHB):c.756T>C (p.Pro252=)
|
|
|
|
NM_183050.4(BCKDHB):c.756_759del (p.Ile253fs)
|
|
|
|
NM_183050.4(BCKDHB):c.757A>C (p.Ile253Leu)
|
|
|
|
NM_183050.4(BCKDHB):c.75del (p.Leu26fs)
|
|
|
|
NM_183050.4(BCKDHB):c.765A>T (p.Pro255=)
|
rs2127823220
|
|
|
NM_183050.4(BCKDHB):c.767A>G (p.Tyr256Cys)
|
|
|
|
NM_183050.4(BCKDHB):c.768C>T (p.Tyr256=)
|
rs781723847
|
|
|
NM_183050.4(BCKDHB):c.771C>T (p.Asn257=)
|
rs2127823243
|
|
|
NM_183050.4(BCKDHB):c.772A>T (p.Ile258Phe)
|
|
|
|
NM_183050.4(BCKDHB):c.774C>T (p.Ile258=)
|
rs2127823256
|
|
|
NM_183050.4(BCKDHB):c.777A>G (p.Pro259=)
|
|
|
|
NM_183050.4(BCKDHB):c.778C>T (p.Leu260=)
|
rs2127823271
|
|
|
NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)
|
rs1769081318
|
|
|
NM_183050.4(BCKDHB):c.780G>A (p.Leu260=)
|
|
|
|
NM_183050.4(BCKDHB):c.780G>C (p.Leu260=)
|
|
|
|
NM_183050.4(BCKDHB):c.790G>A (p.Glu264Lys)
|
|
|
|
NM_183050.4(BCKDHB):c.794T>C (p.Val265Ala)
|
|
|
|
NM_183050.4(BCKDHB):c.796A>G (p.Ile266Val)
|
|
|
|
NM_183050.4(BCKDHB):c.804A>G (p.Glu268=)
|
rs769220378
|
|
|
NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)
|
rs1554194690
|
|
|
NM_183050.4(BCKDHB):c.812A>C (p.Asp271Ala)
|
rs2127823416
|
|
|
NM_183050.4(BCKDHB):c.813T>C (p.Asp271=)
|
|
|
|
NM_183050.4(BCKDHB):c.817A>C (p.Thr273Pro)
|
rs398124595
|
|
|
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
|
|
|
|
NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)
|
|
|
|
NM_183050.4(BCKDHB):c.821T>C (p.Leu274Pro)
|
rs1582342243
|
|
|
NM_183050.4(BCKDHB):c.827C>G (p.Ala276Gly)
|
rs1774369297
|
|
|
NM_183050.4(BCKDHB):c.828C>T (p.Ala276=)
|
|
|
|
NM_183050.4(BCKDHB):c.830G>A (p.Trp277Ter)
|
rs1774369632
|
|
|
NM_183050.4(BCKDHB):c.834C>T (p.Gly278=)
|
|
|
|
NM_183050.4(BCKDHB):c.835A>G (p.Thr279Ala)
|
rs775427993
|
|
|
NM_183050.4(BCKDHB):c.840+12T>G
|
|
|
|
NM_183050.4(BCKDHB):c.840+15dup
|
|
|
|
NM_183050.4(BCKDHB):c.840+1G>A
|
rs760538465
|
|
|
NM_183050.4(BCKDHB):c.840+20A>G
|
|
|
|
NM_183050.4(BCKDHB):c.840+8G>A
|
|
|
|
NM_183050.4(BCKDHB):c.841-1G>C
|
rs962489830
|
|
|
NM_183050.4(BCKDHB):c.841-1G>T
|
|
|
|
NM_183050.4(BCKDHB):c.841-2A>G
|
|
|
|
NM_183050.4(BCKDHB):c.843dup (p.His282fs)
|
|
|
|
NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)
|
|
|
|
NM_183050.4(BCKDHB):c.84C>G (p.Gly28=)
|
rs776261412
|
|
|
NM_183050.4(BCKDHB):c.861A>C (p.Val287=)
|
rs1358699136
|
|
|
NM_183050.4(BCKDHB):c.861A>T (p.Val287=)
|
rs1358699136
|
|
|
NM_183050.4(BCKDHB):c.862G>C (p.Ala288Pro)
|
rs1210713694
|
|
|
NM_183050.4(BCKDHB):c.880_881dup (p.Leu295fs)
|
|
|
|
NM_183050.4(BCKDHB):c.885del (p.Gly296fs)
|
rs398124599
|
|
|
NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)
|
rs1554180793
|
|
|
NM_183050.4(BCKDHB):c.900A>G (p.Glu300=)
|
rs2127826950
|
|
|
NM_183050.4(BCKDHB):c.903C>T (p.Val301=)
|
|
|
|
NM_183050.4(BCKDHB):c.907_910dup (p.Leu304fs)
|
|
|
|
NM_183050.4(BCKDHB):c.908dup (p.Asp303fs)
|
rs1774478421
|
|
|
NM_183050.4(BCKDHB):c.915G>A (p.Arg305=)
|
|
|
|
NM_183050.4(BCKDHB):c.932A>T (p.Asp311Val)
|
|
|
|
NM_183050.4(BCKDHB):c.939C>T (p.Asp313=)
|
rs2127827076
|
|
|
NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)
|
rs398124601
|
|
|
NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)
|
rs398124601
|
|
|
NM_183050.4(BCKDHB):c.943A>G (p.Ile315Val)
|
|
|
|
NM_183050.4(BCKDHB):c.94del (p.Ala32fs)
|
rs2127698980
|
|
|
NM_183050.4(BCKDHB):c.951+10T>C
|
|
|
|
NM_183050.4(BCKDHB):c.951+11A>C
|
|
|
|
NM_183050.4(BCKDHB):c.951+1G>A
|
rs756647770
|
|
|
NM_183050.4(BCKDHB):c.951+4T>C
|
rs778135997
|
|
|
NM_183050.4(BCKDHB):c.951+7A>C
|
rs2127827133
|
|
|
NM_183050.4(BCKDHB):c.951+8T>A
|
rs749433792
|
|
|
NM_183050.4(BCKDHB):c.951+9A>C
|
rs374054207
|
|
|
NM_183050.4(BCKDHB):c.951+9A>G
|
rs374054207
|
|
|
NM_183050.4(BCKDHB):c.952-13T>C
|
|
|
|
NM_183050.4(BCKDHB):c.952-14C>G
|
rs1777820973
|
|
|
NM_183050.4(BCKDHB):c.952-14C>T
|
|
|
|
NM_183050.4(BCKDHB):c.952-2A>G
|
rs1554205499
|
|
|
NM_183050.4(BCKDHB):c.952-5T>G
|
|
|
|
NM_183050.4(BCKDHB):c.953C>T (p.Ser318Phe)
|
rs1562193767
|
|
|
NM_183050.4(BCKDHB):c.968G>C (p.Gly323Ala)
|
|
|
|
NM_183050.4(BCKDHB):c.969G>A (p.Gly323=)
|
|
|
|
NM_183050.4(BCKDHB):c.969G>C (p.Gly323=)
|
rs764707388
|
|
|
NM_183050.4(BCKDHB):c.96G>A (p.Ala32=)
|
rs1769084493
|
|
|
NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)
|
|
|
|
NM_183050.4(BCKDHB):c.970C>A (p.Arg324=)
|
|
|
|
NM_183050.4(BCKDHB):c.971G>A (p.Arg324Gln)
|
|
|
|
NM_183050.4(BCKDHB):c.975G>T (p.Leu325=)
|
|
|
|
NM_183050.4(BCKDHB):c.976C>T (p.Leu326=)
|
rs2127965109
|
|
|
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)
|
rs1224101411
|
|
|
NM_183050.4(BCKDHB):c.988del (p.Glu330fs)
|
|
|
|
NM_183050.4(BCKDHB):c.989A>G (p.Glu330Gly)
|
rs769446376
|
|
|
NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)
|
|
|
|
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)
|
rs1777825845
|
|
|
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)
|
rs1554205541
|
|
|
NM_183050.4(BCKDHB):c.996C>G (p.Pro332=)
|
|
|
|
NM_183050.4(BCKDHB):c.996C>T (p.Pro332=)
|
|
|
|
NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)
|
|
|
|
NM_199292.2(TH):c.-70G>A
|
rs1372180906
|
|
|
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr)
|
rs2125354252
|
|
|
NM_201253.3(CRB1):c.1002C>T (p.Ala334=)
|
|
|
|
NM_201253.3(CRB1):c.1005G>T (p.Gln335His)
|
|
|
|
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly)
|
rs2125354280
|
|
|
NM_201253.3(CRB1):c.1011G>A (p.Glu337=)
|
rs1013396657
|
|
|
NM_201253.3(CRB1):c.1017C>T (p.Asp339=)
|
|
|
|
NM_201253.3(CRB1):c.1020C>T (p.Leu340=)
|
|
|
|
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)
|
rs1064797127
|
|
|
NM_201253.3(CRB1):c.102C>T (p.Cys34=)
|
rs2125303585
|
|
|
NM_201253.3(CRB1):c.1030A>C (p.Asn344His)
|
|
|
|
NM_201253.3(CRB1):c.1032_1033dup (p.Ser345fs)
|
|
|
|
NM_201253.3(CRB1):c.1038C>T (p.Asn346=)
|
rs1320196113
|
|
|
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg)
|
rs2125354412
|
|
|
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro)
|
|
|
|
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del)
|
|
|
|
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter)
|
rs2125354456
|
|
|
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr)
|
|
|
|
NM_201253.3(CRB1):c.1071G>A (p.Leu357=)
|
|
|
|
NM_201253.3(CRB1):c.1074C>A (p.Ser358=)
|
|
|
|
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs)
|
rs2125354507
|
|
|
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)
|
rs2125303600
|
|
|
NM_201253.3(CRB1):c.1080G>A (p.Glu360=)
|
|
|
|
NM_201253.3(CRB1):c.108A>G (p.Ser36=)
|
|
|
|
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)
|
rs116347915
|
|
|
NM_201253.3(CRB1):c.1094G>A (p.Arg365His)
|
rs777528044
|
|
|
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro)
|
rs1660512789
|
|
|
NM_201253.3(CRB1):c.1095C>T (p.Arg365=)
|
|
|
|
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile)
|
rs764225776
|
|
|
NM_201253.3(CRB1):c.1107G>A (p.Leu369=)
|
rs774597915
|
|
|
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del)
|
|
|
|
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)
|
rs1660514556
|
|
|
NM_201253.3(CRB1):c.1122C>T (p.Ser374=)
|
rs1571897069
|
|
|
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His)
|
|
|
|
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)
|
rs1660515780
|
|
|
NM_201253.3(CRB1):c.1128T>C (p.His376=)
|
rs2125354691
|
|
|
NM_201253.3(CRB1):c.112del (p.Ser38fs)
|
rs62645750
|
|
|
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)
|
rs1660516364
|
|
|
NM_201253.3(CRB1):c.1137A>G (p.Ser379=)
|
|
|
|
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala)
|
|
|
|
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly)
|
|
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
|
NM_201253.3(CRB1):c.114T>C (p.Ser38=)
|
rs2125303623
|
|
|
NM_201253.3(CRB1):c.1161T>C (p.Pro387=)
|
rs746407080
|
|
|
NM_201253.3(CRB1):c.1164A>T (p.Gly388=)
|
|
|
|
NM_201253.3(CRB1):c.1171+10A>G
|
rs2125354843
|
|
|
NM_201253.3(CRB1):c.1171+11G>C
|
rs2125354847
|
|
|
NM_201253.3(CRB1):c.1171+15A>G
|
|
|
|
NM_201253.3(CRB1):c.1171+1G>A
|
|
|
|
NM_201253.3(CRB1):c.1171+7C>A
|
|
|
|
NM_201253.3(CRB1):c.1171+7C>T
|
|
|
|
NM_201253.3(CRB1):c.1171+8C>A
|
|
|
|
NM_201253.3(CRB1):c.1171+9A>G
|
|
|
|
NM_201253.3(CRB1):c.1172-10T>G
|
rs2125468756
|
|
|
NM_201253.3(CRB1):c.1172-12del
|
|
|
|
NM_201253.3(CRB1):c.1172-13dup
|
|
|
|
NM_201253.3(CRB1):c.1172-15T>C
|
rs375141011
|
|
|
NM_201253.3(CRB1):c.1172-18T>G
|
|
|
|
NM_201253.3(CRB1):c.1172-1G>T
|
rs2125468776
|
|
|
NM_201253.3(CRB1):c.1172-2A>G
|
rs2125468772
|
|
|
NM_201253.3(CRB1):c.1172-7T>C
|
|
|
|
NM_201253.3(CRB1):c.1172-8T>C
|
|
|
|
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)
|
|
|
|
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg)
|
rs786205450
|
|
|
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe)
|
|
|
|
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
|
rs115352681
|
|
|
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys)
|
|
|
|
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)
|
rs369775002
|
|
|
NM_201253.3(CRB1):c.1185A>G (p.Glu395=)
|
rs2125468817
|
|
|
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys)
|
|
|
|
NM_201253.3(CRB1):c.1194C>G (p.Val398=)
|
|
|
|
NM_201253.3(CRB1):c.1194C>T (p.Val398=)
|
rs1211619415
|
|
|
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser)
|
|
|
|
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
|
|
|
|
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter)
|
rs62645746
|
|
|
NM_201253.3(CRB1):c.1218C>T (p.Cys406=)
|
rs2125468930
|
|
|
NM_201253.3(CRB1):c.1224T>C (p.Asn408=)
|
rs1352300215
|
|
|
NM_201253.3(CRB1):c.1233T>A (p.Thr411=)
|
rs2125468968
|
|
|
NM_201253.3(CRB1):c.1242C>T (p.Asn414=)
|
|
|
|
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)
|
|
|
|
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr)
|
rs539152735
|
|
|
NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser)
|
|
|
|
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala)
|
|
|
|
NM_201253.3(CRB1):c.1263C>T (p.Cys421=)
|
|
|
|
NM_201253.3(CRB1):c.1266T>C (p.His422=)
|
|
|
|
NM_201253.3(CRB1):c.1275del (p.Phe425fs)
|
|
|
|
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu)
|
|
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
|
NM_201253.3(CRB1):c.129T>A (p.Ser43=)
|
rs2125303659
|
|
|
NM_201253.3(CRB1):c.12G>A (p.Lys4=)
|
rs1452970703
|
|
|
NM_201253.3(CRB1):c.1305A>G (p.Gly435=)
|
rs34813822
|
|
|
NM_201253.3(CRB1):c.1306A>C (p.Arg436=)
|
|
|
|
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser)
|
|
|
|
NM_201253.3(CRB1):c.1317T>C (p.Ser439=)
|
|
|
|
NM_201253.3(CRB1):c.1326C>T (p.Leu442=)
|
|
|
|
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp)
|
|
|
|
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs)
|
rs1664289410
|
|
|
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn)
|
rs1215864611
|
|
|
NM_201253.3(CRB1):c.1339dup (p.His447fs)
|
rs2125469313
|
|
|
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser)
|
rs1664290387
|
|
|
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)
|
rs1664290387
|
|
|
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)
|
rs2125303672
|
|
|
NM_201253.3(CRB1):c.1356T>C (p.Asn452=)
|
|
|
|
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
|
|
|
|
NM_201253.3(CRB1):c.1362A>G (p.Gly454=)
|
rs2125469375
|
|
|
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)
|
|
|
|
NM_201253.3(CRB1):c.1380C>T (p.Phe460=)
|
|
|
|
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter)
|
rs1664292210
|
|
|
NM_201253.3(CRB1):c.1389C>G (p.Gly463=)
|
|
|
|
NM_201253.3(CRB1):c.138del (p.Asp47fs)
|
|
|
|
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly)
|
|
|
|
NM_201253.3(CRB1):c.1408C>T (p.Leu470=)
|
|
|
|
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly)
|
rs1240979285
|
|
|
NM_201253.3(CRB1):c.1416A>G (p.Pro472=)
|
|
|
|
NM_201253.3(CRB1):c.1425C>T (p.Tyr475=)
|
rs2125469515
|
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
|
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)
|
rs62636282
|
|
|
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)
|
rs866822473
|
|
|
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile)
|
rs765448599
|
|
|
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val)
|
rs1277758473
|
|
|
NM_201253.3(CRB1):c.1431G>A (p.Gly477=)
|
rs761872993
|
|
|
NM_201253.3(CRB1):c.1431G>T (p.Gly477=)
|
rs761872993
|
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
|
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)
|
rs963201816
|
|
|
NM_201253.3(CRB1):c.1447G>A (p.Ala483Thr)
|
|
|
|
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro)
|
|
|
|
NM_201253.3(CRB1):c.144T>C (p.Phe48=)
|
rs2125303703
|
|
|
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg)
|
rs1450685360
|
|
|
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)
|
rs1664299898
|
|
|
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser)
|
|
|
|
NM_201253.3(CRB1):c.1476C>T (p.Gly492=)
|
|
|
|
NM_201253.3(CRB1):c.1512G>A (p.Lys504=)
|
rs1208469570
|
|
|
NM_201253.3(CRB1):c.1521T>G (p.Val507=)
|
rs1664303513
|
|
|
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg)
|
rs1664303657
|
|
|
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val)
|
rs1664304309
|
|
|
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met)
|
rs1571523673
|
|
|
NM_201253.3(CRB1):c.1539G>A (p.Arg513=)
|
rs1571523693
|
|
|
NM_201253.3(CRB1):c.153C>T (p.Asp51=)
|
|
|
|
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu)
|
rs2125469961
|
|
|
NM_201253.3(CRB1):c.1557A>G (p.Pro519=)
|
|
|
|
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro)
|
|
|
|
NM_201253.3(CRB1):c.1572T>C (p.Leu524=)
|
rs1571523807
|
|
|
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn)
|
|
|
|
NM_201253.3(CRB1):c.1585A>C (p.Arg529=)
|
rs2125470067
|
|
|
NM_201253.3(CRB1):c.1593G>A (p.Val531=)
|
|
|
|
NM_201253.3(CRB1):c.1593G>T (p.Val531=)
|
|
|
|
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu)
|
rs2125470125
|
|
|
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)
|
rs878853364
|
|
|
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln)
|
rs1664310357
|
|
|
NM_201253.3(CRB1):c.1617T>C (p.Ser539=)
|
|
|
|
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
|
|
|
|
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)
|
|
|
|
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr)
|
rs2125470239
|
|
|
NM_201253.3(CRB1):c.162T>C (p.Cys54=)
|
rs1426861310
|
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
|
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr)
|
rs1427090221
|
|
|
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter)
|
rs768107603
|
|
|
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer)
|
|
|
|
NM_201253.3(CRB1):c.1659G>A (p.Lys553=)
|
rs748644955
|
|
|
NM_201253.3(CRB1):c.1660del (p.Val554fs)
|
rs1664313783
|
|
|
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly)
|
|
|
|
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro)
|
|
|
|
NM_201253.3(CRB1):c.1665T>C (p.Leu555=)
|
|
|
|
NM_201253.3(CRB1):c.1668G>C (p.Leu556=)
|
|
|
|
NM_201253.3(CRB1):c.1671C>T (p.Phe557=)
|
rs2125470440
|
|
|
NM_201253.3(CRB1):c.1677C>T (p.Ser559=)
|
|
|
|
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile)
|
|
|
|
NM_201253.3(CRB1):c.1686C>A (p.Thr562=)
|
|
|
|
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly)
|
rs1193275021
|
|
|
NM_201253.3(CRB1):c.1689C>T (p.Ser563=)
|
|
|
|
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn)
|
rs757279881
|
|
|
NM_201253.3(CRB1):c.1692T>C (p.Asp564=)
|
|
|
|
NM_201253.3(CRB1):c.1697del (p.Glu566fs)
|
rs1664317534
|
|
|
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg)
|
rs886043472
|
|
|
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter)
|
rs2125470583
|
|
|
NM_201253.3(CRB1):c.1704T>A (p.His568Gln)
|
|
|
|
NM_201253.3(CRB1):c.1707C>T (p.Phe569=)
|
rs201885772
|
|
|
NM_201253.3(CRB1):c.1708G>A (p.Val570Met)
|
rs754482666
|
|
|
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)
|
rs773233587
|
|
|
NM_201253.3(CRB1):c.1713G>A (p.Glu571=)
|
rs375514026
|
|
|
NM_201253.3(CRB1):c.1725A>G (p.Ala575=)
|
rs1240962420
|
|
|
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)
|
rs1266363944
|
|
|
NM_201253.3(CRB1):c.1734G>A (p.Val578=)
|
|
|
|
NM_201253.3(CRB1):c.1737C>A (p.Thr579=)
|
rs775441906
|
|
|
NM_201253.3(CRB1):c.1737C>T (p.Thr579=)
|
rs775441906
|
|
|
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe)
|
rs761775378
|
|
|
NM_201253.3(CRB1):c.1740T>C (p.Leu580=)
|
rs2125470719
|
|
|
NM_201253.3(CRB1):c.1743C>A (p.Thr581=)
|
|
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
|
NM_201253.3(CRB1):c.1749C>A (p.Ile583=)
|
|
|
|
NM_201253.3(CRB1):c.174C>T (p.Asp58=)
|
|
|
|
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)
|
rs1034422363
|
|
|
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)
|
rs1471328495
|
|
|
NM_201253.3(CRB1):c.1767G>A (p.Glu589=)
|
rs142458114
|
|
|
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile)
|
rs1284729199
|
|
|
NM_201253.3(CRB1):c.1770A>G (p.Lys590=)
|
rs1350306887
|
|
|
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)
|
rs1664325377
|
|
|
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr)
|
|
|
|
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly)
|
rs1447630642
|
|
|
NM_201253.3(CRB1):c.1779G>A (p.Ala593=)
|
|
|
|
NM_201253.3(CRB1):c.1779G>T (p.Ala593=)
|
rs778428918
|
|
|
NM_201253.3(CRB1):c.1782del (p.Ala595fs)
|
|
|
|
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro)
|
rs752212470
|
|
|
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser)
|
rs752212470
|
|
|
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr)
|
|
|
|
NM_201253.3(CRB1):c.1791T>C (p.Thr597=)
|
rs2125470969
|
|
|
NM_201253.3(CRB1):c.1797T>C (p.Leu599=)
|
rs2125470983
|
|
|
NM_201253.3(CRB1):c.180C>G (p.Ala60=)
|
|
|
|
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala)
|
rs1664329175
|
|
|
NM_201253.3(CRB1):c.1812A>G (p.Ser604=)
|
rs2125471031
|
|
|
NM_201253.3(CRB1):c.1813del (p.Ile605fs)
|
|
|
|
NM_201253.3(CRB1):c.1824T>C (p.Phe608=)
|
rs2125471055
|
|
|
NM_201253.3(CRB1):c.1831del (p.Ser611fs)
|
rs2125471098
|
|
|
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)
|
rs2125471114
|
|
|
NM_201253.3(CRB1):c.183T>C (p.Asn61=)
|
rs1338529935
|
|
|
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg)
|
|
|
|
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)
|
rs768905244
|
|
|
NM_201253.3(CRB1):c.1852G>A (p.Val618Met)
|
rs1169856523
|
|
|
NM_201253.3(CRB1):c.1854G>A (p.Val618=)
|
|
|
|
NM_201253.3(CRB1):c.1856del (p.Gly619fs)
|
rs2125471177
|
|
|
NM_201253.3(CRB1):c.1863C>T (p.Thr621=)
|
rs1160778866
|
|
|
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile)
|
|
|
|
NM_201253.3(CRB1):c.1875T>G (p.Val625=)
|
rs917245598
|
|
|
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)
|
rs1413323140
|
|
|
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val)
|
|
|
|
NM_201253.3(CRB1):c.1879C>T (p.Leu627=)
|
|
|
|
NM_201253.3(CRB1):c.1881G>T (p.Leu627=)
|
|
|
|
NM_201253.3(CRB1):c.1896T>C (p.Asn632=)
|
rs2125471353
|
|
|
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs)
|
rs2125471347
|
|
|
NM_201253.3(CRB1):c.18del (p.Asn7fs)
|
rs2125193922
|
|
|
NM_201253.3(CRB1):c.1902A>G (p.Pro634=)
|
|
|
|
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr)
|
|
|
|
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro)
|
|
|
|
NM_201253.3(CRB1):c.1908A>G (p.Thr636=)
|
|
|
|
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)
|
rs1238001290
|
|
|
NM_201253.3(CRB1):c.1914G>T (p.Ser638=)
|
rs780682072
|
|
|
NM_201253.3(CRB1):c.1920A>G (p.Val640=)
|
rs2125471484
|
|
|
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala)
|
rs2125471502
|
|
|
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val)
|
|
|
|
NM_201253.3(CRB1):c.1929C>G (p.Leu643=)
|
rs1235841860
|
|
|
NM_201253.3(CRB1):c.1929C>T (p.Leu643=)
|
|
|
|
NM_201253.3(CRB1):c.1932A>G (p.Gln644=)
|
|
|
|
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu)
|
rs757884719
|
|
|
NM_201253.3(CRB1):c.1944T>C (p.Ile648=)
|
rs978090242
|
|
|
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)
|
rs1664341626
|
|
|
NM_201253.3(CRB1):c.194_195del (p.Lys65fs)
|
|
|
|
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser)
|
rs1336674793
|
|
|
NM_201253.3(CRB1):c.1962C>A (p.Thr654=)
|
|
|
|
NM_201253.3(CRB1):c.1971C>T (p.Asn657=)
|
|
|
|
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs)
|
rs2125471663
|
|
|
NM_201253.3(CRB1):c.1977G>T (p.Ser659=)
|
|
|
|
NM_201253.3(CRB1):c.1989A>G (p.Ser663=)
|
rs557541175
|
|
|
NM_201253.3(CRB1):c.198C>T (p.Asp66=)
|
|
|
|
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile)
|
|
|
|
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp)
|
rs189395222
|
|
|
NM_201253.3(CRB1):c.1998C>A (p.Val666=)
|
rs2125471766
|
|
|
NM_201253.3(CRB1):c.1998C>G (p.Val666=)
|
|
|
|
NM_201253.3(CRB1):c.1998C>T (p.Val666=)
|
|
|
|
NM_201253.3(CRB1):c.2001G>A (p.Lys667=)
|
|
|
|
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val)
|
|
|
|
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)
|
rs749112809
|
|
|
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)
|
|
|
|
NM_201253.3(CRB1):c.2037A>G (p.Gln679=)
|
|
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
|
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg)
|
rs779069205
|
|
|
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala)
|
|
|
|
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val)
|
rs748175297
|
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
|
NM_201253.3(CRB1):c.2057G>A (p.Arg686His)
|
rs1281817527
|
|
|
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)
|
rs1664351600
|
|
|
NM_201253.3(CRB1):c.2068T>C (p.Leu690=)
|
|
|
|
NM_201253.3(CRB1):c.2070G>A (p.Leu690=)
|
|
|
|
NM_201253.3(CRB1):c.2074C>T (p.Leu692=)
|
rs2125472030
|
|
|
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter)
|
rs2125472041
|
|
|
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg)
|
|
|
|
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr)
|
|
|
|
NM_201253.3(CRB1):c.2097C>T (p.His699=)
|
|
|
|
NM_201253.3(CRB1):c.20_23del (p.Asn7fs)
|
rs2125193925
|
|
|
NM_201253.3(CRB1):c.2100G>A (p.Arg700=)
|
rs2125472092
|
|
|
NM_201253.3(CRB1):c.2112C>T (p.Gly704=)
|
|
|
|
NM_201253.3(CRB1):c.2124G>A (p.Leu708=)
|
rs2125472182
|
|
|
NM_201253.3(CRB1):c.2128+14G>A
|
rs2125472215
|
|
|
NM_201253.3(CRB1):c.2128+18del
|
|
|
|
NM_201253.3(CRB1):c.2128+19C>T
|
|
|
|
NM_201253.3(CRB1):c.2128+1G>C
|
rs2125472205
|
|
|
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln)
|
rs62645755
|
|
|
NM_201253.3(CRB1):c.2129-1G>A
|
|
|
|
NM_201253.3(CRB1):c.2129-1G>C
|
rs1664642051
|
|
|
NM_201253.3(CRB1):c.2129-1G>T
|
|
|
|
NM_201253.3(CRB1):c.2129-20C>T
|
|
|
|
NM_201253.3(CRB1):c.2129-2A>C
|
|
|
|
NM_201253.3(CRB1):c.2129-2A>G
|
|
|
|
NM_201253.3(CRB1):c.2129-5T>G
|
|
|
|
NM_201253.3(CRB1):c.2129-7A>C
|
|
|
|
NM_201253.3(CRB1):c.2129-7A>T
|
rs773844151
|
|
|
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly)
|
rs145282040
|
|
|
NM_201253.3(CRB1):c.2130G>A (p.Glu710=)
|
|
|
|
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs)
|
|
|
|
NM_201253.3(CRB1):c.2133T>C (p.Tyr711=)
|
|
|
|
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr)
|
rs2125483533
|
|
|
NM_201253.3(CRB1):c.2139A>G (p.Ala713=)
|
rs2125483545
|
|
|
NM_201253.3(CRB1):c.213A>G (p.Lys71=)
|
rs2125303816
|
|
|
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp)
|
rs2125483555
|
|
|
NM_201253.3(CRB1):c.2142C>A (p.Gly714=)
|
|
|
|
NM_201253.3(CRB1):c.2150del (p.Gly717fs)
|
rs2125483574
|
|
|
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn)
|
|
|
|
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly)
|
|
|
|
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val)
|
rs759961722
|
|
|
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs)
|
|
|
|
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter)
|
|
|
|
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp)
|
|
|
|
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala)
|
|
|
|
NM_201253.3(CRB1):c.2175C>A (p.Val725=)
|
rs1021271157
|
|
|
NM_201253.3(CRB1):c.2178C>A (p.Ile726=)
|
|
|
|
NM_201253.3(CRB1):c.2184T>A (p.Thr728=)
|
rs777644631
|
|
|
NM_201253.3(CRB1):c.2187T>C (p.Leu729=)
|
|
|
|
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)
|
|
|
|
NM_201253.3(CRB1):c.2190T>C (p.Asp730=)
|
|
|
|
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs)
|
|
|
|
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg)
|
|
|
|
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys)
|
|
|
|
NM_201253.3(CRB1):c.2205C>T (p.Asp735=)
|
|
|
|
NM_201253.3(CRB1):c.2208C>T (p.Thr736=)
|
rs1265675307
|
|
|
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr)
|
rs62636267
|
|
|
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile)
|
rs1664649489
|
|
|
NM_201253.3(CRB1):c.2226T>C (p.Phe742=)
|
rs1664649939
|
|
|
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs)
|
rs1664650245
|
|
|
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)
|
|
|
|
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)
|
rs150412614
|
|
|
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys)
|
rs28939720
|
|
|
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
|
rs1664651920
|
|
|
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del)
|
rs62635653
|
|
|
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser)
|
rs2125483920
|
|
|
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val)
|
rs2125483925
|
|
|
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe)
|
rs2125483936
|
|
|
NM_201253.3(CRB1):c.2257C>T (p.Leu753=)
|
rs2125483948
|
|
|
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer)
|
|
|
|
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro)
|
rs896160584
|
|
|
NM_201253.3(CRB1):c.2259A>G (p.Leu753=)
|
rs2125483955
|
|
|
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs)
|
|
|
|
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser)
|
|
|
|
NM_201253.3(CRB1):c.2268A>G (p.Glu756=)
|
rs1240250876
|
|
|
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly)
|
|
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
|
NM_201253.3(CRB1):c.2274C>T (p.Ser758=)
|
|
|
|
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)
|
rs1485086776
|
|
|
NM_201253.3(CRB1):c.2277T>C (p.Thr759=)
|
rs2125484014
|
|
|
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn)
|
rs2125484022
|
|
|
NM_201253.3(CRB1):c.2280T>C (p.Tyr760=)
|
|
|
|
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn)
|
rs2125484063
|
|
|
NM_201253.3(CRB1):c.228C>T (p.Ser76=)
|
|
|
|
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs)
|
|
|
|
NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)
|
|
|
|
NM_201253.3(CRB1):c.2301A>G (p.Leu767=)
|
rs2125484113
|
|
|
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro)
|
rs62636287
|
|
|
NM_201253.3(CRB1):c.2307C>G (p.Arg769=)
|
|
|
|
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly)
|
|
|
|
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)
|
rs964544440
|
|
|
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile)
|
rs1293863321
|
|
|
NM_201253.3(CRB1):c.2328T>C (p.Thr776=)
|
|
|
|
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala)
|
|
|
|
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys)
|
|
|
|
NM_201253.3(CRB1):c.2334C>T (p.Asn778=)
|
rs765210114
|
|
|
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu)
|
|
|
|
NM_201253.3(CRB1):c.2340C>T (p.Pro780=)
|
rs2125484301
|
|
|
NM_201253.3(CRB1):c.2343A>G (p.Lys781=)
|
|
|
|
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val)
|
|
|
|
NM_201253.3(CRB1):c.2346A>G (p.Leu782=)
|
|
|
|
NM_201253.3(CRB1):c.234C>G (p.Pro78=)
|
rs1216212132
|
|
|
NM_201253.3(CRB1):c.2355del (p.Lys785fs)
|
|
|
|
NM_201253.3(CRB1):c.2358T>C (p.Phe786=)
|
rs1371610654
|
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
|
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg)
|
|
|
|
NM_201253.3(CRB1):c.2379C>T (p.Val793=)
|
rs2125484466
|
|
|
NM_201253.3(CRB1):c.2380C>A (p.His794Asn)
|
rs1294237377
|
|
|
NM_201253.3(CRB1):c.2382C>G (p.His794Gln)
|
|
|
|
NM_201253.3(CRB1):c.2382C>T (p.His794=)
|
|
|
|
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr)
|
|
|
|
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu)
|
rs1658660736
|
|
|
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter)
|
rs2125484499
|
|
|
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu)
|
rs1658660906
|
|
|
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu)
|
rs1558132026
|
|
|
NM_201253.3(CRB1):c.2406A>C (p.Pro802=)
|
rs141103073
|
|
|
NM_201253.3(CRB1):c.2406A>G (p.Pro802=)
|
|
|
|
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro)
|
rs1664667136
|
|
|
NM_201253.3(CRB1):c.2421G>C (p.Leu807=)
|
rs2125484620
|
|
|
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)
|
rs1009552469
|
|
|
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter)
|
rs1571540037
|
|
|
NM_201253.3(CRB1):c.2433A>G (p.Ser811=)
|
rs2125484661
|
|
|
NM_201253.3(CRB1):c.2459C>T (p.Ser820Phe)
|
|
|
|
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)
|
rs1658661237
|
|
|
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg)
|
rs142857810
|
|
|
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)
|
rs1664669402
|
|
|
NM_201253.3(CRB1):c.2478G>A (p.Lys826=)
|
rs1174487197
|
|
|
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg)
|
rs62636269
|
|
|
NM_201253.3(CRB1):c.2487C>T (p.Val829=)
|
|
|
|
NM_201253.3(CRB1):c.2493C>T (p.Tyr831=)
|
rs2125484854
|
|
|
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)
|
rs1664671663
|
|
|
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys)
|
rs1664671663
|
|
|
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp)
|
rs1571540258
|
|
|
NM_201253.3(CRB1):c.249C>T (p.Ala83=)
|
|
|
|
NM_201253.3(CRB1):c.24C>T (p.Tyr8=)
|
rs1044326530
|
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
|
NM_201253.3(CRB1):c.2505A>G (p.Leu835=)
|
|
|
|
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs)
|
rs778419716
|
|
|
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala)
|
rs1658661930
|
|
|
NM_201253.3(CRB1):c.2517A>G (p.Gln839=)
|
|
|
|
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile)
|
rs2125484956
|
|
|
NM_201253.3(CRB1):c.2527_2598del (p.Leu843_Pro866del)
|
|
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
|
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu)
|
rs772476137
|
|
|
NM_201253.3(CRB1):c.2541C>T (p.Phe847=)
|
rs1664675234
|
|
|
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs)
|
rs2125485040
|
|
|
NM_201253.3(CRB1):c.2543del (p.Phe848fs)
|
|
|
|
NM_201253.3(CRB1):c.2548G>T (p.Gly850Cys)
|
|
|
|
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp)
|
rs757137398
|
|
|
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe)
|
|
|
|
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser)
|
|
|
|
NM_201253.3(CRB1):c.2553T>C (p.Cys851=)
|
|
|
|
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys)
|
|
|
|
NM_201253.3(CRB1):c.2565A>G (p.Val855=)
|
|
|
|
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys)
|
|
|
|
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser)
|
|
|
|
NM_201253.3(CRB1):c.2569C>T (p.Leu857=)
|
rs1571540576
|
|
|
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg)
|
rs1664678030
|
|
|
NM_201253.3(CRB1):c.2570dup (p.Asn858fs)
|
rs2125485135
|
|
|
NM_201253.3(CRB1):c.2574C>T (p.Asn858=)
|
rs2125485154
|
|
|
NM_201253.3(CRB1):c.2578del (p.Gln860fs)
|
rs1558132353
|
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
|
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr)
|
rs1664679702
|
|
|
NM_201253.3(CRB1):c.2582del (p.Asn861fs)
|
|
|
|
NM_201253.3(CRB1):c.2583T>C (p.Asn861=)
|
rs2125485214
|
|
|
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)
|
|
|
|
NM_201253.3(CRB1):c.2598A>G (p.Pro866=)
|
rs1336253157
|
|
|
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)
|
rs1664680830
|
|
|
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser)
|
|
|
|
NM_201253.3(CRB1):c.2616A>C (p.Ala872=)
|
rs2125485328
|
|
|
NM_201253.3(CRB1):c.2622C>G (p.Leu874=)
|
|
|
|
NM_201253.3(CRB1):c.2628A>G (p.Pro876=)
|
rs778063991
|
|
|
NM_201253.3(CRB1):c.2634T>C (p.Leu878=)
|
rs2125485390
|
|
|
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile)
|
|
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
|
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys)
|
rs2125485441
|
|
|
NM_201253.3(CRB1):c.2643A>G (p.Val881=)
|
rs1434264303
|
|
|
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile)
|
|
|
|
NM_201253.3(CRB1):c.2646C>G (p.Thr882=)
|
rs2125485474
|
|
|
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys)
|
rs2125485481
|
|
|
NM_201253.3(CRB1):c.2647del (p.Gln883fs)
|
rs2125485467
|
|
|
NM_201253.3(CRB1):c.264C>A (p.Thr88=)
|
rs2125303935
|
|
|
NM_201253.3(CRB1):c.264C>T (p.Thr88=)
|
|
|
|
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp)
|
rs2125485510
|
|
|
NM_201253.3(CRB1):c.2655T>C (p.Cys885=)
|
|
|
|
NM_201253.3(CRB1):c.2667C>T (p.Asn889=)
|
|
|
|
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
|
|
|
|
NM_201253.3(CRB1):c.2676+11C>A
|
|
|
|
NM_201253.3(CRB1):c.2676+12T>G
|
|
|
|
NM_201253.3(CRB1):c.2676+15T>A
|
rs370353322
|
|
|
NM_201253.3(CRB1):c.2676+15T>C
|
rs370353322
|
|
|
NM_201253.3(CRB1):c.2676+16A>G
|
|
|
|
NM_201253.3(CRB1):c.2676+4A>G
|
|
|
|
NM_201253.3(CRB1):c.2676+5T>C
|
|
|
|
NM_201253.3(CRB1):c.2676+7A>T
|
rs774387451
|
|
|
NM_201253.3(CRB1):c.2677-13C>A
|
|
|
|
NM_201253.3(CRB1):c.2677-20T>C
|
|
|
|
NM_201253.3(CRB1):c.2682C>T (p.Asn894=)
|
|
|
|
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr)
|
rs781635398
|
|
|
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)
|
rs1571544334
|
|
|
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe)
|
|
|
|
NM_201253.3(CRB1):c.2688T>C (p.Cys896=)
|
|
|
|
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg)
|
|
|
|
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala)
|
|
|
|
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val)
|
rs1254393801
|
|
|
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser)
|
rs2125488768
|
|
|
NM_201253.3(CRB1):c.2703T>A (p.Val901=)
|
rs2125488798
|
|
|
NM_201253.3(CRB1):c.2703T>C (p.Val901=)
|
|
|
|
NM_201253.3(CRB1):c.2712C>T (p.Ser904=)
|
rs1322966199
|
|
|
NM_201253.3(CRB1):c.2715G>T (p.Arg905=)
|
|
|
|
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter)
|
rs2125488868
|
|
|
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu)
|
|
|
|
NM_201253.3(CRB1):c.2736C>T (p.Ser912=)
|
|
|
|
NM_201253.3(CRB1):c.2742T>C (p.Pro914=)
|
rs2125488923
|
|
|
NM_201253.3(CRB1):c.2745C>T (p.Ala915=)
|
rs1664770222
|
|
|
NM_201253.3(CRB1):c.2748C>T (p.Leu916=)
|
rs1664770624
|
|
|
NM_201253.3(CRB1):c.2751A>G (p.Thr917=)
|
rs936120896
|
|
|
NM_201253.3(CRB1):c.2751A>T (p.Thr917=)
|
|
|
|
NM_201253.3(CRB1):c.2763C>G (p.Ala921=)
|
rs2125489012
|
|
|
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter)
|
rs2125489019
|
|
|
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs)
|
|
|
|
NM_201253.3(CRB1):c.2772G>A (p.Glu924=)
|
rs1664772199
|
|
|
NM_201253.3(CRB1):c.2775T>G (p.Val925=)
|
|
|
|
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg)
|
|
|
|
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp)
|
|
|
|
NM_201253.3(CRB1):c.2796G>C (p.Pro932=)
|
|
|
|
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr)
|
rs1558133731
|
|
|
NM_201253.3(CRB1):c.2799T>C (p.Cys933=)
|
rs1334984837
|
|
|
NM_201253.3(CRB1):c.2802T>C (p.Pro934=)
|
|
|
|
NM_201253.3(CRB1):c.2805C>A (p.His935Gln)
|
rs767706271
|
|
|
NM_201253.3(CRB1):c.2805C>T (p.His935=)
|
|
|
|
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
|
|
|
|
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter)
|
|
|
|
NM_201253.3(CRB1):c.2811C>A (p.Ala937=)
|
|
|
|
NM_201253.3(CRB1):c.2814G>A (p.Gln938=)
|
|
|
|
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg)
|
rs1664775504
|
|
|
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly)
|
|
|
|
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter)
|
rs2125489182
|
|
|
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
|
|
|
|
NM_201253.3(CRB1):c.2824G>A (p.Val942Met)
|
|
|
|
NM_201253.3(CRB1):c.2826G>A (p.Val942=)
|
rs781176401
|
|
|
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg)
|
|
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
|
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln)
|
|
|
|
NM_201253.3(CRB1):c.2842+10G>A
|
|
|
|
NM_201253.3(CRB1):c.2842+13C>T
|
|
|
|
NM_201253.3(CRB1):c.2842+20A>G
|
|
|
|
NM_201253.3(CRB1):c.2842+2T>C
|
rs2125489334
|
|
|
NM_201253.3(CRB1):c.2842+7A>G
|
rs2125489345
|
|
|
NM_201253.3(CRB1):c.2842+8G>T
|
|
|
|
NM_201253.3(CRB1):c.2842+9A>T
|
|
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
|
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly)
|
|
|
|
NM_201253.3(CRB1):c.2843-15A>G
|
|
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
|
NM_201253.3(CRB1):c.2843-3dup
|
rs776525385
|
|
|
NM_201253.3(CRB1):c.2843-4_2843-2del
|
|
|
|
NM_201253.3(CRB1):c.2843-5A>T
|
|
|
|
NM_201253.3(CRB1):c.2847T>A (p.Ile949=)
|
rs2125498699
|
|
|
NM_201253.3(CRB1):c.2847T>C (p.Ile949=)
|
|
|
|
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val)
|
rs1665039717
|
|
|
NM_201253.3(CRB1):c.2862T>C (p.Phe954=)
|
|
|
|
NM_201253.3(CRB1):c.2865T>C (p.Asn955=)
|
rs2125498741
|
|
|
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val)
|
rs267598279
|
|
|
NM_201253.3(CRB1):c.2868A>G (p.Gly956=)
|
rs1359395833
|
|
|
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)
|
rs878853371
|
|
|
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg)
|
rs372778560
|
|
|
NM_201253.3(CRB1):c.2877T>A (p.Gly959=)
|
|
|
|
NM_201253.3(CRB1):c.2881del (p.Ile961fs)
|
|
|
|
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del)
|
rs62645745
|
|
|
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter)
|
|
|
|
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu)
|
rs905306614
|
|
|
NM_201253.3(CRB1):c.288C>T (p.Cys96=)
|
|
|
|
NM_201253.3(CRB1):c.2898T>C (p.Asn966=)
|
rs2125498858
|
|
|
NM_201253.3(CRB1):c.2901G>A (p.Gly967=)
|
rs773815247
|
|
|
NM_201253.3(CRB1):c.2901G>C (p.Gly967=)
|
rs773815247
|
|
|
NM_201253.3(CRB1):c.2904dup (p.Ile969fs)
|
|
|
|
NM_201253.3(CRB1):c.2907T>C (p.Ile969=)
|
|
|
|
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)
|
rs766793013
|
|
|
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln)
|
rs1665045248
|
|
|
NM_201253.3(CRB1):c.2922C>G (p.Thr974=)
|
|
|
|
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr)
|
rs2125498956
|
|
|
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys)
|
rs1665046846
|
|
|
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr)
|
rs1665047363
|
|
|
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys)
|
rs1665047363
|
|
|
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs)
|
rs1290879180
|
|
|
NM_201253.3(CRB1):c.2949G>A (p.Arg983=)
|
rs2125499002
|
|
|
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala)
|
rs1227467460
|
|
|
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs)
|
|
|
|
NM_201253.3(CRB1):c.2958T>C (p.Asn986=)
|
|
|
|
NM_201253.3(CRB1):c.2961A>G (p.Val987=)
|
|
|
|
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)
|
rs1571555801
|
|
|
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr)
|
|
|
|
NM_201253.3(CRB1):c.2967A>T (p.Ile989=)
|
|
|
|
NM_201253.3(CRB1):c.2969del (p.Leu990fs)
|
|
|
|
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)
|
rs2125499116
|
|
|
NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)
|
|
|
|
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp)
|
|
|
|
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser)
|
rs1404279052
|
|
|
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu)
|
rs2125304021
|
|
|
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val)
|
|
|
|
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe)
|
rs910299744
|
|
|
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe)
|
|
|
|
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly)
|
rs369184026
|
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
|
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter)
|
rs143511261
|
|
|
NM_201253.3(CRB1):c.303G>C (p.Gly101=)
|
|
|
|
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn)
|
|
|
|
NM_201253.3(CRB1):c.3048C>T (p.Asn1016=)
|
rs2125499296
|
|
|
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly)
|
rs2125499301
|
|
|
NM_201253.3(CRB1):c.3051C>T (p.Ser1017=)
|
|
|
|
NM_201253.3(CRB1):c.3054T>C (p.Phe1018=)
|
rs963461440
|
|
|
NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs)
|
|
|
|
NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)
|
|
|
|
NM_201253.3(CRB1):c.3075T>C (p.Ser1025=)
|
|
|
|
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met)
|
rs757383417
|
|
|
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile)
|
rs116254396
|
|
|
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn)
|
rs2125499421
|
|
|
NM_201253.3(CRB1):c.3093T>C (p.Asp1031=)
|
|
|
|
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile)
|
|
|
|
NM_201253.3(CRB1):c.3099A>G (p.Thr1033=)
|
rs2125499446
|
|
|
NM_201253.3(CRB1):c.30C>T (p.Leu10=)
|
|
|
|
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)
|
rs1665062132
|
|
|
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter)
|
rs2125499463
|
|
|
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys)
|
|
|
|
NM_201253.3(CRB1):c.3108A>G (p.Glu1036=)
|
rs2125499489
|
|
|
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs)
|
rs1665063400
|
|
|
NM_201253.3(CRB1):c.3111G>C (p.Val1037=)
|
|
|
|
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs)
|
|
|
|
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=)
|
rs1571556490
|
|
|
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)
|
rs781705903
|
|
|
NM_201253.3(CRB1):c.312G>A (p.Gly104=)
|
rs2125304069
|
|
|
NM_201253.3(CRB1):c.3134del (p.Leu1045fs)
|
rs2125499552
|
|
|
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)
|
rs1665065652
|
|
|
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs)
|
|
|
|
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs)
|
rs1665066272
|
|
|
NM_201253.3(CRB1):c.3144C>T (p.Thr1048=)
|
rs2125499576
|
|
|
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
|
|
|
|
NM_201253.3(CRB1):c.3147C>T (p.Ser1049=)
|
|
|
|
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter)
|
|
|
|
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His)
|
|
|
|
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr)
|
rs727503889
|
|
|
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu)
|
|
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
|
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly)
|
|
|
|
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu)
|
|
|
|
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu)
|
|
|
|
NM_201253.3(CRB1):c.3189C>T (p.Thr1063=)
|
|
|
|
NM_201253.3(CRB1):c.318C>T (p.Ile106=)
|
|
|
|
NM_201253.3(CRB1):c.3195A>G (p.Thr1065=)
|
rs1571556837
|
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
|
NM_201253.3(CRB1):c.3204T>C (p.Thr1068=)
|
|
|
|
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile)
|
rs1665074618
|
|
|
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe)
|
|
|
|
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe)
|
rs398124614
|
|
|
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)
|
rs2125499764
|
|
|
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr)
|
rs2125499800
|
|
|
NM_201253.3(CRB1):c.3225G>A (p.Lys1075=)
|
|
|
|
NM_201253.3(CRB1):c.3231T>C (p.Asn1077=)
|
rs2125499828
|
|
|
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala)
|
|
|
|
NM_201253.3(CRB1):c.3243T>C (p.Tyr1081=)
|
rs1665078340
|
|
|
NM_201253.3(CRB1):c.3255A>G (p.Arg1085=)
|
|
|
|
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser)
|
rs2125499915
|
|
|
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)
|
rs535494663
|
|
|
NM_201253.3(CRB1):c.3258T>C (p.Ala1086=)
|
|
|
|
NM_201253.3(CRB1):c.3267T>C (p.Asn1089=)
|
|
|
|
NM_201253.3(CRB1):c.3270A>T (p.Ile1090=)
|
|
|
|
NM_201253.3(CRB1):c.3273G>A (p.Lys1091=)
|
rs2125499953
|
|
|
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser)
|
rs1402562231
|
|
|
NM_201253.3(CRB1):c.3277C>T (p.Leu1093=)
|
rs1051901493
|
|
|
NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)
|
|
|
|
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His)
|
|
|
|
NM_201253.3(CRB1):c.3282A>G (p.Gln1094=)
|
rs752719776
|
|
|
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His)
|
rs752719776
|
|
|
NM_201253.3(CRB1):c.3285G>T (p.Gly1095=)
|
rs1030214290
|
|
|
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter)
|
|
|
|
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala)
|
|
|
|
NM_201253.3(CRB1):c.3292del (p.Ser1098fs)
|
|
|
|
NM_201253.3(CRB1):c.3297A>G (p.Thr1099=)
|
rs2125500012
|
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
|
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val)
|
|
|
|
NM_201253.3(CRB1):c.3306C>A (p.Ile1102=)
|
|
|
|
NM_201253.3(CRB1):c.3309A>G (p.Gly1103=)
|
|
|
|
NM_201253.3(CRB1):c.3312C>G (p.Gly1104=)
|
|
|
|
NM_201253.3(CRB1):c.3312C>T (p.Gly1104=)
|
|
|
|
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg)
|
rs62636276
|
|
|
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs)
|
rs2125500141
|
|
|
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs)
|
rs2125500127
|
|
|
NM_201253.3(CRB1):c.3327C>T (p.Tyr1109=)
|
|
|
|
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys)
|
rs1665086143
|
|
|
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter)
|
rs62636277
|
|
|
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)
|
rs779253997
|
|
|
NM_201253.3(CRB1):c.3345T>C (p.Gly1115=)
|
rs1665087283
|
|
|
NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)
|
|
|
|
NM_201253.3(CRB1):c.3357A>G (p.Lys1119=)
|
|
|
|
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter)
|
rs2125500230
|
|
|
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu)
|
|
|
|
NM_201253.3(CRB1):c.3384C>A (p.Ile1128=)
|
rs2125500314
|
|
|
NM_201253.3(CRB1):c.3387T>G (p.Ser1129=)
|
|
|
|
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe)
|
|
|
|
NM_201253.3(CRB1):c.3395_3879-490del
|
|
|
|
NM_201253.3(CRB1):c.3396A>T (p.Ser1132=)
|
rs1209147052
|
|
|
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala)
|
|
|
|
NM_201253.3(CRB1):c.339C>T (p.Ser113=)
|
rs1220315666
|
|
|
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser)
|
|
|
|
NM_201253.3(CRB1):c.3408C>A (p.Gly1136=)
|
rs2125500386
|
|
|
NM_201253.3(CRB1):c.3408C>G (p.Gly1136=)
|
|
|
|
NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)
|
|
|
|
NM_201253.3(CRB1):c.3412T>C (p.Leu1138=)
|
|
|
|
NM_201253.3(CRB1):c.3418T>C (p.Leu1140=)
|
|
|
|
NM_201253.3(CRB1):c.3418T>G (p.Leu1140Val)
|
|
|
|
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg)
|
|
|
|
NM_201253.3(CRB1):c.3427del (p.Cys1143fs)
|
rs2125500431
|
|
|
NM_201253.3(CRB1):c.3429C>T (p.Cys1143=)
|
|
|
|
NM_201253.3(CRB1):c.3432C>T (p.Asn1144=)
|
rs199596437
|
|
|
NM_201253.3(CRB1):c.3438C>T (p.Asn1146=)
|
|
|
|
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs)
|
|
|
|
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg)
|
rs2125500491
|
|
|
NM_201253.3(CRB1):c.3445T>C (p.Leu1149=)
|
rs2125500500
|
|
|
NM_201253.3(CRB1):c.344_356dup (p.Cys119fs)
|
|
|
|
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)
|
rs1558138741
|
|
|
NM_201253.3(CRB1):c.345C>G (p.Gly115=)
|
|
|
|
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser)
|
|
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
|
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn)
|
|
|
|
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys)
|
rs2125500588
|
|
|
NM_201253.3(CRB1):c.3477C>T (p.Ser1159=)
|
rs2125500600
|
|
|
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys)
|
rs1414707912
|
|
|
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg)
|
rs2125500617
|
|
|
NM_201253.3(CRB1):c.3489C>T (p.Cys1163=)
|
|
|
|
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe)
|
rs761492989
|
|
|
NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)
|
|
|
|
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs)
|
|
|
|
NM_201253.3(CRB1):c.3510A>G (p.Ser1170=)
|
rs1665100853
|
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
|
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr)
|
rs1665102302
|
|
|
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe)
|
|
|
|
NM_201253.3(CRB1):c.3528C>G (p.Leu1176=)
|
rs2125500753
|
|
|
NM_201253.3(CRB1):c.3531C>T (p.Asn1177=)
|
|
|
|
NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val)
|
|
|
|
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
|
|
|
|
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys)
|
|
|
|
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter)
|
|
|
|
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe)
|
|
|
|
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs)
|
rs2125500799
|
|
|
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)
|
rs1553263218
|
|
|
NM_201253.3(CRB1):c.354C>T (p.Ser118=)
|
|
|
|
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)
|
rs1658671611
|
|
|
NM_201253.3(CRB1):c.3561C>T (p.Ile1187=)
|
|
|
|
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg)
|
rs1665105838
|
|
|
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln)
|
rs376271122
|
|
|
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe)
|
rs1558138977
|
|
|
NM_201253.3(CRB1):c.3585T>C (p.Val1195=)
|
rs1007859886
|
|
|
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter)
|
rs1658671768
|
|
|
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg)
|
|
|
|
NM_201253.3(CRB1):c.3603A>G (p.Thr1201=)
|
|
|
|
NM_201253.3(CRB1):c.360A>G (p.Gln120=)
|
rs1658671916
|
|
|
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe)
|
|
|
|
NM_201253.3(CRB1):c.3621T>C (p.Thr1207=)
|
|
|
|
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val)
|
|
|
|
NM_201253.3(CRB1):c.3630del (p.Cys1211fs)
|
|
|
|
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser)
|
|
|
|
NM_201253.3(CRB1):c.3636A>G (p.Glu1212=)
|
rs2125500988
|
|
|
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val)
|
rs753102573
|
|
|
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly)
|
rs2125501023
|
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
|
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser)
|
rs1450635782
|
|
|
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)
|
rs1450635782
|
|
|
NM_201253.3(CRB1):c.3663C>T (p.His1221=)
|
rs1250767401
|
|
|
NM_201253.3(CRB1):c.3666G>A (p.Gln1222=)
|
|
|
|
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs)
|
|
|
|
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser)
|
|
|
|
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr)
|
|
|
|
NM_201253.3(CRB1):c.3681C>A (p.Ala1227=)
|
|
|
|
NM_201253.3(CRB1):c.3684C>T (p.Thr1228=)
|
|
|
|
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter)
|
|
|
|
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile)
|
rs1665116355
|
|
|
NM_201253.3(CRB1):c.3699T>C (p.Thr1233=)
|
|
|
|
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs)
|
|
|
|
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe)
|
|
|
|
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)
|
rs1366609497
|
|
|
NM_201253.3(CRB1):c.3717C>T (p.Leu1239=)
|
rs370095562
|
|
|
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)
|
rs886045783
|
|
|
NM_201253.3(CRB1):c.3729T>C (p.Asn1243=)
|
|
|
|
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys)
|
|
|
|
NM_201253.3(CRB1):c.372T>C (p.Ile124=)
|
|
|
|
NM_201253.3(CRB1):c.3735A>T (p.Thr1245=)
|
|
|
|
NM_201253.3(CRB1):c.3749+15C>G
|
|
|
|
NM_201253.3(CRB1):c.3749+17T>C
|
|
|
|
NM_201253.3(CRB1):c.3749+18A>C
|
|
|
|
NM_201253.3(CRB1):c.3749+1G>A
|
rs2125501295
|
|
|
NM_201253.3(CRB1):c.3749+2_3749+3del
|
rs1665120314
|
|
|
NM_201253.3(CRB1):c.3749+5G>A
|
|
|
|
NM_201253.3(CRB1):c.3749+8T>A
|
rs2125501305
|
|
|
NM_201253.3(CRB1):c.3749+9A>G
|
|
|
|
NM_201253.3(CRB1):c.3750-10A>G
|
|
|
|
NM_201253.3(CRB1):c.3750-16G>A
|
|
|
|
NM_201253.3(CRB1):c.3750-16G>C
|
|
|
|
NM_201253.3(CRB1):c.3750-6C>T
|
|
|
|
NM_201253.3(CRB1):c.3753G>A (p.Gln1251=)
|
rs1665273242
|
|
|
NM_201253.3(CRB1):c.3762A>G (p.Leu1254=)
|
rs2125506161
|
|
|
NM_201253.3(CRB1):c.3762del (p.Leu1254fs)
|
|
|
|
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly)
|
rs2125506192
|
|
|
NM_201253.3(CRB1):c.3777T>C (p.Cys1259=)
|
|
|
|
NM_201253.3(CRB1):c.377A>G (p.His126Arg)
|
rs1300735825
|
|
|
NM_201253.3(CRB1):c.3783T>C (p.Asn1261=)
|
|
|
|
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
|
rs1007094417
|
|
|
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly)
|
|
|
|
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter)
|
rs2125506218
|
|
|
NM_201253.3(CRB1):c.3795T>C (p.Asn1265=)
|
rs2125506234
|
|
|
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter)
|
rs1658673791
|
|
|
NM_201253.3(CRB1):c.3804C>T (p.Cys1268=)
|
rs2125506255
|
|
|
NM_201253.3(CRB1):c.3813A>C (p.Gly1271=)
|
|
|
|
NM_201253.3(CRB1):c.381G>A (p.Gln127=)
|
rs6690444
|
|
|
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
|
|
|
|
NM_201253.3(CRB1):c.3825A>G (p.Thr1275=)
|
|
|
|
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs)
|
|
|
|
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)
|
|
|
|
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp)
|
|
|
|
NM_201253.3(CRB1):c.3846A>G (p.Lys1282=)
|
|
|
|
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)
|
rs1665279435
|
|
|
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg)
|
rs1665279918
|
|
|
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
|
|
|
|
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
|
|
|
|
NM_201253.3(CRB1):c.3860del (p.Pro1287fs)
|
rs2125506442
|
|
|
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)
|
rs2125506459
|
|
|
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp)
|
rs533997742
|
|
|
NM_201253.3(CRB1):c.3867T>C (p.Phe1289=)
|
|
|
|
NM_201253.3(CRB1):c.3870T>C (p.Thr1290=)
|
|
|
|
NM_201253.3(CRB1):c.3878+10_3878+15del
|
rs2125506544
|
|
|
NM_201253.3(CRB1):c.3878+10_3878+17del
|
|
|
|
NM_201253.3(CRB1):c.3878+12T>C
|
|
|
|
NM_201253.3(CRB1):c.3878+14G>C
|
|
|
|
NM_201253.3(CRB1):c.3878+17C>A
|
|
|
|
NM_201253.3(CRB1):c.3878+17C>G
|
|
|
|
NM_201253.3(CRB1):c.3878+1G>A
|
rs748927280
|
|
|
NM_201253.3(CRB1):c.3878+2dup
|
rs1665282720
|
|
|
NM_201253.3(CRB1):c.3878+7C>T
|
|
|
|
NM_201253.3(CRB1):c.3878+9C>T
|
rs1571564812
|
|
|
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter)
|
rs1665282478
|
|
|
NM_201253.3(CRB1):c.3879-13G>A
|
|
|
|
NM_201253.3(CRB1):c.3879-15C>T
|
|
|
|
NM_201253.3(CRB1):c.3879-15_3879-12del
|
rs2125513517
|
|
|
NM_201253.3(CRB1):c.3879-16T>A
|
|
|
|
NM_201253.3(CRB1):c.3879-16T>C
|
|
|
|
NM_201253.3(CRB1):c.3879-16T>G
|
rs376774507
|
|
|
NM_201253.3(CRB1):c.3879-4G>T
|
rs373719645
|
|
|
NM_201253.3(CRB1):c.3879-9A>G
|
rs2125513531
|
|
|
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter)
|
rs281865174
|
|
|
NM_201253.3(CRB1):c.387T>C (p.Pro129=)
|
|
|
|
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe)
|
rs754575460
|
|
|
NM_201253.3(CRB1):c.3887del (p.Lys1296fs)
|
rs765536137
|
|
|
NM_201253.3(CRB1):c.3891C>T (p.Asp1297=)
|
|
|
|
NM_201253.3(CRB1):c.3896del (p.Asp1299fs)
|
rs2125513602
|
|
|
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter)
|
|
|
|
NM_201253.3(CRB1):c.3909T>C (p.Ser1303=)
|
rs2125513623
|
|
|
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala)
|
|
|
|
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)
|
|
|
|
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu)
|
|
|
|
NM_201253.3(CRB1):c.3915G>C (p.Pro1305=)
|
rs541488801
|
|
|
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr)
|
rs2125513658
|
|
|
NM_201253.3(CRB1):c.3921C>G (p.Val1307=)
|
rs1223786607
|
|
|
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser)
|
rs747631811
|
|
|
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser)
|
rs1411240510
|
|
|
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala)
|
rs778373995
|
|
|
NM_201253.3(CRB1):c.3933G>A (p.Leu1311=)
|
rs372846698
|
|
|
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe)
|
|
|
|
NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)
|
|
|
|
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg)
|
|
|
|
NM_201253.3(CRB1):c.3950del (p.Asn1317fs)
|
|
|
|
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter)
|
rs1665482895
|
|
|
NM_201253.3(CRB1):c.3954A>G (p.Lys1318=)
|
rs1267070832
|
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
|
NM_201253.3(CRB1):c.396T>C (p.Pro132=)
|
|
|
|
NM_201253.3(CRB1):c.3972T>C (p.Asp1324=)
|
|
|
|
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup)
|
rs750573216
|
|
|
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=)
|
|
|
|
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter)
|
rs1372774777
|
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
|
NM_201253.3(CRB1):c.3990G>A (p.Glu1330=)
|
|
|
|
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)
|
rs1665487563
|
|
|
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp)
|
rs1665487563
|
|
|
NM_201253.3(CRB1):c.3996C>T (p.Cys1332=)
|
|
|
|
NM_201253.3(CRB1):c.399C>G (p.Val133=)
|
|
|
|
NM_201253.3(CRB1):c.4005+1G>A
|
rs890453675
|
|
|
NM_201253.3(CRB1):c.4005+1G>C
|
rs890453675
|
|
|
NM_201253.3(CRB1):c.4005+2T>C
|
rs2125514028
|
|
|
NM_201253.3(CRB1):c.4005+2T>G
|
|
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|
|
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=)
|
|
|
|
NM_201253.3(CRB1):c.4006-11A>G
|
|
|
|
NM_201253.3(CRB1):c.4006-18T>G
|
rs2125573687
|
|
|
NM_201253.3(CRB1):c.4006-19A>G
|
|
|
|
NM_201253.3(CRB1):c.4006-1G>A
|
|
|
|
NM_201253.3(CRB1):c.4006-1G>C
|
rs752804194
|
|
|
NM_201253.3(CRB1):c.4006-1G>T
|
rs752804194
|
|
|
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr)
|
|
|
|
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu)
|
|
|
|
NM_201253.3(CRB1):c.4014T>C (p.Asp1338=)
|
rs778204458
|
|
|
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)
|
rs780087216
|
|
|
NM_201253.3(CRB1):c.4038C>T (p.Thr1346=)
|
rs1667257557
|
|
|
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp)
|
rs761584516
|
|
|
NM_201253.3(CRB1):c.4047C>A (p.Gly1349=)
|
|
|
|
NM_201253.3(CRB1):c.4050A>C (p.Ser1350=)
|
rs771682304
|
|
|
NM_201253.3(CRB1):c.4053G>A (p.Val1351=)
|
rs375396992
|
|
|
NM_201253.3(CRB1):c.4056T>G (p.Thr1352=)
|
rs574285705
|
|
|
NM_201253.3(CRB1):c.405C>G (p.Ile135Met)
|
|
|
|
NM_201253.3(CRB1):c.4068A>G (p.Leu1356=)
|
rs2125573927
|
|
|
NM_201253.3(CRB1):c.4077C>T (p.Leu1359=)
|
|
|
|
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe)
|
rs752559648
|
|
|
NM_201253.3(CRB1):c.4086C>T (p.Ala1362=)
|
rs2125573975
|
|
|
NM_201253.3(CRB1):c.408C>T (p.Cys136=)
|
|
|
|
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)
|
|
|
|
NM_201253.3(CRB1):c.4101T>C (p.Val1367=)
|
|
|
|
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)
|
rs1667262233
|
|
|
NM_201253.3(CRB1):c.4107C>T (p.Thr1369=)
|
rs1571645424
|
|
|
NM_201253.3(CRB1):c.4110C>T (p.Ser1370=)
|
rs2125574047
|
|
|
NM_201253.3(CRB1):c.4117A>C (p.Arg1373=)
|
rs2125574055
|
|
|
NM_201253.3(CRB1):c.4119G>A (p.Arg1373=)
|
|
|
|
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs)
|
rs281865175
|
|
|
NM_201253.3(CRB1):c.4125T>G (p.Thr1375=)
|
|
|
|
NM_201253.3(CRB1):c.4131A>G (p.Gly1377=)
|
|
|
|
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser)
|
rs1571645532
|
|
|
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter)
|
rs1206810310
|
|
|
NM_201253.3(CRB1):c.4137C>T (p.Tyr1379=)
|
rs1206810310
|
|
|
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)
|
|
|
|
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg)
|
|
|
|
NM_201253.3(CRB1):c.4140C>T (p.Ser1380=)
|
|
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
|
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del)
|
rs2125574108
|
|
|
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly)
|
|
|
|
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu)
|
|
|
|
NM_201253.3(CRB1):c.414T>C (p.Ala138=)
|
rs1658677371
|
|
|
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
|
|
|
|
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala)
|
|
|
|
NM_201253.3(CRB1):c.4161G>A (p.Glu1387=)
|
|
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
|
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val)
|
rs765740058
|
|
|
NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)
|
|
|
|
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe)
|
rs775906215
|
|
|
NM_201253.3(CRB1):c.4167C>A (p.Ser1389=)
|
|
|
|
NM_201253.3(CRB1):c.4167C>T (p.Ser1389=)
|
|
|
|
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
|
rs764581378
|
|
|
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly)
|
|
|
|
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs)
|
rs2125574236
|
|
|
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu)
|
rs1261177913
|
|
|
NM_201253.3(CRB1):c.4197C>T (p.Pro1399=)
|
rs2125574291
|
|
|
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu)
|
|
|
|
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)
|
rs767920858
|
|
|
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys)
|
|
|
|
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln)
|
rs1667269806
|
|
|
NM_201253.3(CRB1):c.4209G>A (p.Glu1403=)
|
rs1490587812
|
|
|
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp)
|
rs1490587812
|
|
|
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln)
|
rs1667270315
|
|
|
NM_201253.3(CRB1):c.423T>A (p.Ala141=)
|
|
|
|
NM_201253.3(CRB1):c.425del (p.Gly142fs)
|
|
|
|
NM_201253.3(CRB1):c.42C>G (p.Leu14=)
|
rs2125193970
|
|
|
NM_201253.3(CRB1):c.438G>A (p.Glu146=)
|
|
|
|
NM_201253.3(CRB1):c.439A>G (p.Ile147Val)
|
rs2125304346
|
|
|
NM_201253.3(CRB1):c.441_444del (p.Asp148fs)
|
rs1571848688
|
|
|
NM_201253.3(CRB1):c.450T>C (p.Asp150=)
|
rs756735925
|
|
|
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg)
|
|
|
|
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)
|
rs1571848744
|
|
|
NM_201253.3(CRB1):c.465C>T (p.Ser155=)
|
|
|
|
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu)
|
rs1420941782
|
|
|
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr)
|
rs2125304430
|
|
|
NM_201253.3(CRB1):c.477T>C (p.Asn159=)
|
|
|
|
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp)
|
|
|
|
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)
|
rs1064797126
|
|
|
NM_201253.3(CRB1):c.481del (p.Ala161fs)
|
rs62635048
|
|
|
NM_201253.3(CRB1):c.483C>G (p.Ala161=)
|
rs370907719
|
|
|
NM_201253.3(CRB1):c.483C>T (p.Ala161=)
|
rs370907719
|
|
|
NM_201253.3(CRB1):c.486G>A (p.Val162=)
|
rs2125304480
|
|
|
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly)
|
rs2125304485
|
|
|
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter)
|
rs1658684590
|
|
|
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg)
|
rs952354514
|
|
|
NM_201253.3(CRB1):c.495T>C (p.Asp165=)
|
|
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
|
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr)
|
rs773457531
|
|
|
NM_201253.3(CRB1):c.504T>C (p.Asp168=)
|
rs765280046
|
|
|
NM_201253.3(CRB1):c.506del (p.Gly169fs)
|
rs1167867158
|
|
|
NM_201253.3(CRB1):c.510C>T (p.Tyr170=)
|
rs1658687526
|
|
|
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys)
|
rs763841981
|
|
|
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe)
|
rs756931963
|
|
|
NM_201253.3(CRB1):c.519C>T (p.Phe173=)
|
rs540720099
|
|
|
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser)
|
|
|
|
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter)
|
rs1658688864
|
|
|
NM_201253.3(CRB1):c.522T>C (p.Cys174=)
|
rs1658688864
|
|
|
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs)
|
rs1658689096
|
|
|
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser)
|
|
|
|
NM_201253.3(CRB1):c.532T>C (p.Tyr178His)
|
|
|
|
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter)
|
|
|
|
NM_201253.3(CRB1):c.543A>G (p.Arg181=)
|
rs1405034397
|
|
|
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter)
|
|
|
|
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn)
|
|
|
|
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly)
|
|
|
|
NM_201253.3(CRB1):c.552C>T (p.Asp184=)
|
rs2125304660
|
|
|
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter)
|
rs1658692554
|
|
|
NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)
|
|
|
|
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly)
|
|
|
|
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu)
|
|
|
|
NM_201253.3(CRB1):c.579T>C (p.Asp193=)
|
rs1382054822
|
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
|
NM_201253.3(CRB1):c.582C>G (p.Pro194=)
|
|
|
|
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp)
|
|
|
|
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys)
|
rs1658694943
|
|
|
NM_201253.3(CRB1):c.5del (p.Ala2fs)
|
|
|
|
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe)
|
|
|
|
NM_201253.3(CRB1):c.609T>C (p.Asn203=)
|
rs1558057563
|
|
|
NM_201253.3(CRB1):c.60C>T (p.Ile20=)
|
|
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
|
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg)
|
|
|
|
NM_201253.3(CRB1):c.624T>C (p.Tyr208=)
|
rs1658697788
|
|
|
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter)
|
|
|
|
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr)
|
|
|
|
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)
|
|
|
|
NM_201253.3(CRB1):c.630dup (p.Ile211fs)
|
|
|
|
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)
|
rs1658699227
|
|
|
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser)
|
|
|
|
NM_201253.3(CRB1):c.636T>C (p.Cys212=)
|
rs2125304873
|
|
|
NM_201253.3(CRB1):c.652+12C>A
|
|
|
|
NM_201253.3(CRB1):c.652+13A>G
|
rs2125304913
|
|
|
NM_201253.3(CRB1):c.652+13AT[3]
|
|
|
|
NM_201253.3(CRB1):c.652+14T>A
|
|
|
|
NM_201253.3(CRB1):c.652+14T>C
|
|
|
|
NM_201253.3(CRB1):c.652+17C>T
|
|
|
|
NM_201253.3(CRB1):c.652+18_652+19del
|
|
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
|
NM_201253.3(CRB1):c.652+20A>G
|
|
|
|
NM_201253.3(CRB1):c.652+3_652+6del
|
rs1658700284
|
|
|
NM_201253.3(CRB1):c.653-10T>G
|
rs1306679553
|
|
|
NM_201253.3(CRB1):c.653-11T>G
|
|
|
|
NM_201253.3(CRB1):c.653-1G>A
|
rs760287363
|
|
|
NM_201253.3(CRB1):c.653-5A>G
|
|
|
|
NM_201253.3(CRB1):c.653-6del
|
|
|
|
NM_201253.3(CRB1):c.653-7_653-6del
|
rs1659639143
|
|
|
NM_201253.3(CRB1):c.653-9T>G
|
rs1361143166
|
|
|
NM_201253.3(CRB1):c.663T>C (p.Cys221=)
|
|
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
|
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp)
|
rs1659641198
|
|
|
NM_201253.3(CRB1):c.667T>C (p.Leu223=)
|
|
|
|
NM_201253.3(CRB1):c.668dup (p.Leu223fs)
|
rs2125328217
|
|
|
NM_201253.3(CRB1):c.66A>T (p.Ile22=)
|
rs2125194017
|
|
|
NM_201253.3(CRB1):c.675T>C (p.Ile225=)
|
|
|
|
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala)
|
|
|
|
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr)
|
rs1163013240
|
|
|
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter)
|
rs1659642763
|
|
|
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg)
|
rs978649523
|
|
|
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr)
|
|
|
|
NM_201253.3(CRB1):c.699T>C (p.Cys233=)
|
rs1659643864
|
|
|
NM_201253.3(CRB1):c.70+10_70+14dup
|
rs2125194046
|
|
|
NM_201253.3(CRB1):c.70+10dup
|
|
|
|
NM_201253.3(CRB1):c.70+13C>G
|
|
|
|
NM_201253.3(CRB1):c.70+17T>G
|
|
|
|
NM_201253.3(CRB1):c.70+18T>C
|
|
|
|
NM_201253.3(CRB1):c.70+18T>G
|
|
|
|
NM_201253.3(CRB1):c.70+1G>C
|
|
|
|
NM_201253.3(CRB1):c.70+20G>A
|
|
|
|
NM_201253.3(CRB1):c.70+2T>A
|
rs1654723466
|
|
|
NM_201253.3(CRB1):c.71-10T>A
|
rs2125303442
|
|
|
NM_201253.3(CRB1):c.71-12A>G
|
rs12042179
|
|
|
NM_201253.3(CRB1):c.71-13T>A
|
|
|
|
NM_201253.3(CRB1):c.71-13dup
|
rs772914182
|
|
|
NM_201253.3(CRB1):c.71-17T>A
|
|
|
|
NM_201253.3(CRB1):c.71-18C>T
|
|
|
|
NM_201253.3(CRB1):c.71-20T>C
|
|
|
|
NM_201253.3(CRB1):c.71-2A>G
|
rs1383691293
|
|
|
NM_201253.3(CRB1):c.71-5del
|
|
|
|
NM_201253.3(CRB1):c.71-6T>C
|
rs918243631
|
|
|
NM_201253.3(CRB1):c.71-6T>G
|
|
|
|
NM_201253.3(CRB1):c.71-7C>T
|
rs1158168007
|
|
|
NM_201253.3(CRB1):c.71-9T>C
|
rs571591819
|
|
|
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr)
|
|
|
|
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe)
|
rs771079655
|
|
|
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter)
|
rs2125328350
|
|
|
NM_201253.3(CRB1):c.71del (p.Asn24fs)
|
rs1654722914
|
|
|
NM_201253.3(CRB1):c.733dup (p.Ala245fs)
|
rs1659645978
|
|
|
NM_201253.3(CRB1):c.743del (p.Cys248fs)
|
|
|
|
NM_201253.3(CRB1):c.747C>T (p.Asp249=)
|
rs1449307743
|
|
|
NM_201253.3(CRB1):c.753C>T (p.Ala251=)
|
rs2125328418
|
|
|
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
|
|
|
|
NM_201253.3(CRB1):c.768G>A (p.Gly256=)
|
|
|
|
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr)
|
rs2125328452
|
|
|
NM_201253.3(CRB1):c.770dup (p.Asp257fs)
|
rs2125328456
|
|
|
NM_201253.3(CRB1):c.774C>A (p.His258Gln)
|
rs2125328459
|
|
|
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg)
|
|
|
|
NM_201253.3(CRB1):c.786C>T (p.Asn262=)
|
|
|
|
NM_201253.3(CRB1):c.78T>C (p.Phe26=)
|
rs2125303508
|
|
|
NM_201253.3(CRB1):c.795G>A (p.Glu265=)
|
rs1659650734
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
|
NM_201253.3(CRB1):c.798_799del (p.Ala267fs)
|
rs2125328494
|
|
|
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs)
|
rs886043587
|
|
|
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys)
|
|
|
|
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter)
|
rs753224594
|
|
|
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg)
|
rs1659652337
|
|
|
NM_201253.3(CRB1):c.813T>C (p.Cys271=)
|
rs564571183
|
|
|
NM_201253.3(CRB1):c.817C>T (p.His273Tyr)
|
|
|
|
NM_201253.3(CRB1):c.819T>C (p.His273=)
|
rs2125328566
|
|
|
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg)
|
|
|
|
NM_201253.3(CRB1):c.828G>T (p.Leu276=)
|
|
|
|
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr)
|
|
|
|
NM_201253.3(CRB1):c.833T>C (p.Val278Ala)
|
|
|
|
NM_201253.3(CRB1):c.834G>C (p.Val278=)
|
rs780152729
|
|
|
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
|
rs930465675
|
|
|
NM_201253.3(CRB1):c.848+12C>T
|
|
|
|
NM_201253.3(CRB1):c.848+13T>C
|
|
|
|
NM_201253.3(CRB1):c.848+16C>T
|
|
|
|
NM_201253.3(CRB1):c.848+17G>A
|
|
|
|
NM_201253.3(CRB1):c.848+17G>T
|
|
|
|
NM_201253.3(CRB1):c.848+1G>A
|
rs2125328634
|
|
|
NM_201253.3(CRB1):c.848+20G>T
|
|
|
|
NM_201253.3(CRB1):c.848+4C>G
|
rs1659656136
|
|
|
NM_201253.3(CRB1):c.848+9del
|
rs1357084962
|
|
|
NM_201253.3(CRB1):c.848+9dup
|
rs1357084962
|
|
|
NM_201253.3(CRB1):c.849-4C>T
|
|
|
|
NM_201253.3(CRB1):c.849-8C>T
|
|
|
|
NM_201253.3(CRB1):c.849-9A>G
|
|
|
|
NM_201253.3(CRB1):c.84T>C (p.Asn28=)
|
|
|
|
NM_201253.3(CRB1):c.852T>C (p.Tyr284=)
|
rs1046799192
|
|
|
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)
|
rs1571877872
|
|
|
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys)
|
|
|
|
NM_201253.3(CRB1):c.870T>C (p.Gly290=)
|
|
|
|
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile)
|
rs1374962600
|
|
|
NM_201253.3(CRB1):c.873T>C (p.Ser291=)
|
|
|
|
NM_201253.3(CRB1):c.875G>T (p.Gly292Val)
|
|
|
|
NM_201253.3(CRB1):c.889C>T (p.His297Tyr)
|
|
|
|
NM_201253.3(CRB1):c.891C>T (p.His297=)
|
|
|
|
NM_201253.3(CRB1):c.894T>C (p.Cys298=)
|
rs2125333261
|
|
|
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)
|
|
|
|
NM_201253.3(CRB1):c.901T>C (p.Leu301=)
|
rs1456191997
|
|
|
NM_201253.3(CRB1):c.909T>C (p.Pro303=)
|
|
|
|
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg)
|
|
|
|
NM_201253.3(CRB1):c.942T>A (p.Ala314=)
|
rs2125333360
|
|
|
NM_201253.3(CRB1):c.948T>C (p.Cys316=)
|
|
|
|
NM_201253.3(CRB1):c.954C>T (p.Asp318=)
|
|
|
|
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg)
|
|
|
|
NM_201253.3(CRB1):c.962_966del (p.Asp321fs)
|
rs2125333406
|
|
|
NM_201253.3(CRB1):c.963C>T (p.Asp321=)
|
rs1659843499
|
|
|
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp)
|
rs942572644
|
|
|
NM_201253.3(CRB1):c.969C>T (p.Tyr323=)
|
rs1571878231
|
|
|
NM_201253.3(CRB1):c.96C>G (p.Thr32=)
|
|
|
|
NM_201253.3(CRB1):c.972T>G (p.Thr324=)
|
|
|
|
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter)
|
|
|
|
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)
|
rs1452416023
|
|
|
NM_201253.3(CRB1):c.981C>T (p.Cys327=)
|
|
|
|
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg)
|
|
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
|
NM_201253.3(CRB1):c.986del (p.Pro329fs)
|
|
|
|
NM_201253.3(CRB1):c.987T>C (p.Pro329=)
|
rs754038973
|
|
|
NM_201253.3(CRB1):c.988+13dup
|
|
|
|
NM_201253.3(CRB1):c.988+17C>T
|
|
|
|
NM_201253.3(CRB1):c.988+7G>A
|
|
|
|
NM_201253.3(CRB1):c.989-12T>G
|
|
|
|
NM_201253.3(CRB1):c.989-16A>T
|
|
|
|
NM_201253.3(CRB1):c.989-20T>C
|
|
|
|
NM_201253.3(CRB1):c.989-7C>T
|
|
|
|
NM_201253.3(CRB1):c.989-8T>A
|
rs942052508
|
|
|
NM_201253.3(CRB1):c.989-9A>G
|
rs141834896
|
|
|
NM_201253.3(CRB1):c.995_996del (p.Thr332fs)
|
rs1660503192
|
|
|
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp)
|
rs587783015
|
|
|
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala)
|
rs587783015
|
|
|
NM_201253.3(CRB1):c.99G>A (p.Arg33=)
|
|
|
|
NM_201253.3(CRB1):c.9T>C (p.Leu3=)
|
|
|
|
NM_205861.3(DHDDS):c.100del (p.Asp34fs)
|
|
|
|
NM_205861.3(DHDDS):c.103G>C (p.Gly35Arg)
|
|
|
|
NM_205861.3(DHDDS):c.104G>A (p.Gly35Glu)
|
rs2075181154
|
|
|
NM_205861.3(DHDDS):c.108C>T (p.Asn36=)
|
|
|
|
NM_205861.3(DHDDS):c.109C>T (p.Arg37Cys)
|
rs1553121072
|
|
|
NM_205861.3(DHDDS):c.110G>A (p.Arg37His)
|
rs1553121073
|
|
|
NM_205861.3(DHDDS):c.110G>T (p.Arg37Leu)
|
|
|
|
NM_205861.3(DHDDS):c.111T>G (p.Arg37=)
|
rs2075181248
|
|
|
NM_205861.3(DHDDS):c.112C>T (p.Arg38Cys)
|
rs2124374558
|
|
|
NM_205861.3(DHDDS):c.117T>C (p.Tyr39=)
|
|
|
|
NM_205861.3(DHDDS):c.120C>G (p.Ala40=)
|
|
|
|
NM_205861.3(DHDDS):c.125A>G (p.Lys42Arg)
|
|
|
|
NM_205861.3(DHDDS):c.126G>A (p.Lys42=)
|
rs1044233189
|
|
|
NM_205861.3(DHDDS):c.12C>T (p.Ile4=)
|
|
|
|
NM_205861.3(DHDDS):c.135G>T (p.Val45=)
|
|
|
|
NM_205861.3(DHDDS):c.138G>A (p.Glu46=)
|
rs768883929
|
|
|
NM_205861.3(DHDDS):c.139C>A (p.Arg47=)
|
|
|
|
NM_205861.3(DHDDS):c.141G>A (p.Arg47=)
|
|
|
|
NM_205861.3(DHDDS):c.143A>G (p.Gln48Arg)
|
rs938589146
|
|
|
NM_205861.3(DHDDS):c.144G>A (p.Gln48=)
|
|
|
|
NM_205861.3(DHDDS):c.144G>C (p.Gln48His)
|
|
|
|
NM_205861.3(DHDDS):c.148G>A (p.Gly50Ser)
|
|
|
|
NM_205861.3(DHDDS):c.153C>T (p.His51=)
|
|
|
|
NM_205861.3(DHDDS):c.155C>T (p.Ser52Leu)
|
|
|
|
NM_205861.3(DHDDS):c.157C>G (p.Gln53Glu)
|
rs1057515434
|
|
|
NM_205861.3(DHDDS):c.161G>T (p.Gly54Val)
|
|
|
|
NM_205861.3(DHDDS):c.167A>G (p.Asn56Ser)
|
|
|
|
NM_205861.3(DHDDS):c.168C>T (p.Asn56=)
|
|
|
|
NM_205861.3(DHDDS):c.171G>A (p.Lys57=)
|
|
|
|
NM_205861.3(DHDDS):c.177T>C (p.Ala59=)
|
|
|
|
NM_205861.3(DHDDS):c.180+13G>A
|
|
|
|
NM_205861.3(DHDDS):c.180+15C>T
|
|
|
|
NM_205861.3(DHDDS):c.180+18A>G
|
|
|
|
NM_205861.3(DHDDS):c.180+19G>A
|
|
|
|
NM_205861.3(DHDDS):c.180+6dup
|
|
|
|
NM_205861.3(DHDDS):c.180+8T>C
|
|
|
|
NM_205861.3(DHDDS):c.180+9G>A
|
|
|
|
NM_205861.3(DHDDS):c.180+9G>T
|
rs1472332898
|
|
|
NM_205861.3(DHDDS):c.181-17G>A
|
|
|
|
NM_205861.3(DHDDS):c.181-5C>T
|
rs2124403419
|
|
|
NM_205861.3(DHDDS):c.181-7C>G
|
rs2075230604
|
|
|
NM_205861.3(DHDDS):c.181-7C>T
|
rs2075230604
|
|
|
NM_205861.3(DHDDS):c.181-8C>T
|
|
|
|
NM_205861.3(DHDDS):c.186G>A (p.Leu62=)
|
rs2124403465
|
|
|
NM_205861.3(DHDDS):c.186G>T (p.Leu62=)
|
rs2124403465
|
|
|
NM_205861.3(DHDDS):c.187C>T (p.Arg63Trp)
|
|
|
|
NM_205861.3(DHDDS):c.188G>A (p.Arg63Gln)
|
|
|
|
NM_205861.3(DHDDS):c.189G>C (p.Arg63=)
|
|
|
|
NM_205861.3(DHDDS):c.191G>A (p.Trp64Ter)
|
|
|
|
NM_205861.3(DHDDS):c.19G>A (p.Gly7Arg)
|
|
|
|
NM_205861.3(DHDDS):c.1_2del (p.Met1fs)
|
|
|
|
NM_205861.3(DHDDS):c.202C>T (p.Leu68=)
|
rs2124403620
|
|
|
NM_205861.3(DHDDS):c.207C>T (p.Gly69=)
|
|
|
|
NM_205861.3(DHDDS):c.208A>C (p.Ile70Leu)
|
rs1253678123
|
|
|
NM_205861.3(DHDDS):c.208A>G (p.Ile70Val)
|
|
|
|
NM_205861.3(DHDDS):c.20G>A (p.Gly7Glu)
|
rs2075118494
|
|
|
NM_205861.3(DHDDS):c.210C>T (p.Ile70=)
|
rs1343687682
|
|
|
NM_205861.3(DHDDS):c.229G>A (p.Ala77Thr)
|
|
|
|
NM_205861.3(DHDDS):c.230C>T (p.Ala77Val)
|
|
|
|
NM_205861.3(DHDDS):c.251A>G (p.Lys84Arg)
|
|
|
|
NM_205861.3(DHDDS):c.254G>A (p.Arg85His)
|
rs2124404009
|
|
|
NM_205861.3(DHDDS):c.257C>G (p.Ser86Cys)
|
|
|
|
NM_205861.3(DHDDS):c.259A>G (p.Lys87Glu)
|
rs760975808
|
|
|
NM_205861.3(DHDDS):c.261G>A (p.Lys87=)
|
|
|
|
NM_205861.3(DHDDS):c.264T>C (p.Ser88=)
|
rs2075231676
|
|
|
NM_205861.3(DHDDS):c.264_267del (p.Ser88fs)
|
|
|
|
NM_205861.3(DHDDS):c.294G>A (p.Arg98=)
|
rs2075232193
|
|
|
NM_205861.3(DHDDS):c.294G>T (p.Arg98=)
|
rs2075232193
|
|
|
NM_205861.3(DHDDS):c.299A>C (p.Lys100Thr)
|
rs755746499
|
|
|
NM_205861.3(DHDDS):c.299A>G (p.Lys100Arg)
|
rs755746499
|
|
|
NM_205861.3(DHDDS):c.305G>A (p.Ser102Asn)
|
|
|
|
NM_205861.3(DHDDS):c.309C>T (p.Arg103=)
|
rs545547217
|
|
|
NM_205861.3(DHDDS):c.310T>C (p.Leu104=)
|
|
|
|
NM_205861.3(DHDDS):c.314T>C (p.Met105Thr)
|
|
|
|
NM_205861.3(DHDDS):c.323+10T>C
|
rs2124404634
|
|
|
NM_205861.3(DHDDS):c.323+11A>C
|
|
|
|
NM_205861.3(DHDDS):c.323+16A>T
|
|
|
|
NM_205861.3(DHDDS):c.323+17G>A
|
|
|
|
NM_205861.3(DHDDS):c.323+2_323+5del
|
|
|
|
NM_205861.3(DHDDS):c.323+7T>G
|
|
|
|
NM_205861.3(DHDDS):c.323+9C>G
|
|
|
|
NM_205861.3(DHDDS):c.324-18C>T
|
|
|
|
NM_205861.3(DHDDS):c.324-20T>C
|
|
|
|
NM_205861.3(DHDDS):c.324-6G>C
|
|
|
|
NM_205861.3(DHDDS):c.324-7T>C
|
rs1421223894
|
|
|
NM_205861.3(DHDDS):c.324-8C>T
|
|
|
|
NM_205861.3(DHDDS):c.324-9C>A
|
|
|
|
NM_205861.3(DHDDS):c.324-9C>T
|
|
|
|
NM_205861.3(DHDDS):c.328A>G (p.Lys110Glu)
|
|
|
|
NM_205861.3(DHDDS):c.336G>A (p.Gln112=)
|
|
|
|
NM_205861.3(DHDDS):c.345G>A (p.Gly115=)
|
|
|
|
NM_205861.3(DHDDS):c.348G>A (p.Val116=)
|
rs2124425536
|
|
|
NM_205861.3(DHDDS):c.350G>C (p.Cys117Ser)
|
rs2124425567
|
|
|
NM_205861.3(DHDDS):c.356G>A (p.Arg119Gln)
|
|
|
|
NM_205861.3(DHDDS):c.357G>A (p.Arg119=)
|
|
|
|
NM_205861.3(DHDDS):c.357G>C (p.Arg119=)
|
rs1440891060
|
|
|
NM_205861.3(DHDDS):c.363G>A (p.Leu121=)
|
|
|
|
NM_205861.3(DHDDS):c.363G>C (p.Leu121=)
|
rs1570342748
|
|
|
NM_205861.3(DHDDS):c.364G>A (p.Gly122Ser)
|
|
|
|
NM_205861.3(DHDDS):c.367G>A (p.Asp123Asn)
|
|
|
|
NM_205861.3(DHDDS):c.373C>T (p.His125Tyr)
|
|
|
|
NM_205861.3(DHDDS):c.374_377dup (p.Pro128fs)
|
rs2124425894
|
|
|
NM_205861.3(DHDDS):c.377T>C (p.Leu126Ser)
|
|
|
|
NM_205861.3(DHDDS):c.384C>T (p.Pro128=)
|
|
|
|
NM_205861.3(DHDDS):c.387G>A (p.Leu129=)
|
|
|
|
NM_205861.3(DHDDS):c.390T>G (p.Asp130Glu)
|
rs2124426006
|
|
|
NM_205861.3(DHDDS):c.399G>C (p.Glu133Asp)
|
rs2075268700
|
|
|
NM_205861.3(DHDDS):c.408A>G (p.Ala136=)
|
|
|
|
NM_205861.3(DHDDS):c.40C>A (p.Arg14=)
|
|
|
|
NM_205861.3(DHDDS):c.411A>C (p.Gln137His)
|
rs1356542583
|
|
|
NM_205861.3(DHDDS):c.419A>G (p.Gln140Arg)
|
rs2075269440
|
|
|
NM_205861.3(DHDDS):c.423C>A (p.Ala141=)
|
|
|
|
NM_205861.3(DHDDS):c.423C>T (p.Ala141=)
|
rs1290238393
|
|
|
NM_205861.3(DHDDS):c.425C>G (p.Thr142Arg)
|
rs758751596
|
|
|
NM_205861.3(DHDDS):c.429G>A (p.Lys143=)
|
rs2124426337
|
|
|
NM_205861.3(DHDDS):c.42G>A (p.Arg14=)
|
|
|
|
NM_205861.3(DHDDS):c.42G>C (p.Arg14=)
|
rs2124329616
|
|
|
NM_205861.3(DHDDS):c.435C>T (p.Tyr145=)
|
|
|
|
NM_205861.3(DHDDS):c.438C>T (p.Asn146=)
|
rs2124426386
|
|
|
NM_205861.3(DHDDS):c.440+10C>T
|
|
|
|
NM_205861.3(DHDDS):c.440+12_440+13del
|
|
|
|
NM_205861.3(DHDDS):c.440+14T>G
|
rs1283007450
|
|
|
NM_205861.3(DHDDS):c.440+20T>C
|
rs2124426555
|
|
|
NM_205861.3(DHDDS):c.440+6T>C
|
|
|
|
NM_205861.3(DHDDS):c.440+7T>A
|
|
|
|
NM_205861.3(DHDDS):c.440+7T>G
|
|
|
|
NM_205861.3(DHDDS):c.441-12_441-10del
|
|
|
|
NM_205861.3(DHDDS):c.441-14T>G
|
|
|
|
NM_205861.3(DHDDS):c.441-16_441-15del
|
|
|
|
NM_205861.3(DHDDS):c.441-18C>A
|
rs2124432827
|
|
|
NM_205861.3(DHDDS):c.441-2A>T
|
rs922956992
|
|
|
NM_205861.3(DHDDS):c.441-5C>T
|
rs1325644117
|
|
|
NM_205861.3(DHDDS):c.443G>A (p.Cys148Tyr)
|
|
|
|
NM_205861.3(DHDDS):c.445T>C (p.Phe149Leu)
|
|
|
|
NM_205861.3(DHDDS):c.447C>A (p.Phe149Leu)
|
rs752178339
|
|
|
NM_205861.3(DHDDS):c.44T>A (p.Phe15Tyr)
|
|
|
|
NM_205861.3(DHDDS):c.450G>A (p.Leu150=)
|
rs2124433011
|
|
|
NM_205861.3(DHDDS):c.450G>T (p.Leu150=)
|
|
|
|
NM_205861.3(DHDDS):c.459T>C (p.Cys153=)
|
rs1262736639
|
|
|
NM_205861.3(DHDDS):c.475C>T (p.Arg159Cys)
|
rs752722280
|
|
|
NM_205861.3(DHDDS):c.486C>T (p.Ile162=)
|
|
|
|
NM_205861.3(DHDDS):c.492T>C (p.Asn164=)
|
|
|
|
NM_205861.3(DHDDS):c.496G>A (p.Val166Met)
|
|
|
|
NM_205861.3(DHDDS):c.496G>C (p.Val166Leu)
|
|
|
|
NM_205861.3(DHDDS):c.498G>A (p.Val166=)
|
rs2124433383
|
|
|
NM_205861.3(DHDDS):c.501A>G (p.Arg167=)
|
|
|
|
NM_205861.3(DHDDS):c.502G>C (p.Glu168Gln)
|
|
|
|
NM_205861.3(DHDDS):c.510C>T (p.Ala170=)
|
|
|
|
NM_205861.3(DHDDS):c.510dup (p.Trp171fs)
|
rs2124433466
|
|
|
NM_205861.3(DHDDS):c.512G>T (p.Trp171Leu)
|
rs367557625
|
|
|
NM_205861.3(DHDDS):c.513G>A (p.Trp171Ter)
|
|
|
|
NM_205861.3(DHDDS):c.513G>C (p.Trp171Cys)
|
|
|
|
NM_205861.3(DHDDS):c.514G>C (p.Gly172Arg)
|
|
|
|
NM_205861.3(DHDDS):c.516G>C (p.Gly172=)
|
rs776512735
|
|
|
NM_205861.3(DHDDS):c.516G>T (p.Gly172=)
|
|
|
|
NM_205861.3(DHDDS):c.517G>A (p.Val173Met)
|
rs2075282159
|
|
|
NM_205861.3(DHDDS):c.517dup (p.Val173fs)
|
rs1272594778
|
|
|
NM_205861.3(DHDDS):c.51C>T (p.Ala17=)
|
|
|
|
NM_205861.3(DHDDS):c.531G>T (p.Leu177=)
|
|
|
|
NM_205861.3(DHDDS):c.532T>C (p.Leu178=)
|
|
|
|
NM_205861.3(DHDDS):c.542+11T>C
|
|
|
|
NM_205861.3(DHDDS):c.542+11T>G
|
rs1268905536
|
|
|
NM_205861.3(DHDDS):c.542+18G>A
|
|
|
|
NM_205861.3(DHDDS):c.542+6C>A
|
|
|
|
NM_205861.3(DHDDS):c.542+6C>G
|
rs1286935101
|
|
|
NM_205861.3(DHDDS):c.542+7C>A
|
rs772779004
|
|
|
NM_205861.3(DHDDS):c.542+8G>T
|
rs149948788
|
|
|
NM_205861.3(DHDDS):c.543-10C>G
|
|
|
|
NM_205861.3(DHDDS):c.543-11G>C
|
|
|
|
NM_205861.3(DHDDS):c.543-11G>T
|
|
|
|
NM_205861.3(DHDDS):c.543-3T>C
|
|
|
|
NM_205861.3(DHDDS):c.543-5C>G
|
|
|
|
NM_205861.3(DHDDS):c.543-7A>G
|
rs2124489161
|
|
|
NM_205861.3(DHDDS):c.543-8C>G
|
rs2124489154
|
|
|
NM_205861.3(DHDDS):c.547A>C (p.Ile183Leu)
|
rs1294679503
|
|
|
NM_205861.3(DHDDS):c.549C>T (p.Ile183=)
|
rs2124489198
|
|
|
NM_205861.3(DHDDS):c.550T>G (p.Ser184Ala)
|
|
|
|
NM_205861.3(DHDDS):c.559C>G (p.Leu187Val)
|
|
|
|
NM_205861.3(DHDDS):c.561G>T (p.Leu187=)
|
rs1264707466
|
|
|
NM_205861.3(DHDDS):c.565G>C (p.Asp189His)
|
|
|
|
NM_205861.3(DHDDS):c.566A>G (p.Asp189Gly)
|
|
|
|
NM_205861.3(DHDDS):c.56T>G (p.Ile19Ser)
|
|
|
|
NM_205861.3(DHDDS):c.570G>A (p.Lys190=)
|
rs1570357051
|
|
|
NM_205861.3(DHDDS):c.571T>C (p.Cys191Arg)
|
|
|
|
NM_205861.3(DHDDS):c.576C>G (p.Leu192=)
|
|
|
|
NM_205861.3(DHDDS):c.580A>G (p.Thr194Ala)
|
|
|
|
NM_205861.3(DHDDS):c.586C>T (p.Arg196Cys)
|
|
|
|
NM_205861.3(DHDDS):c.588C>A (p.Arg196=)
|
rs745513492
|
|
|
NM_205861.3(DHDDS):c.58A>G (p.Ile20Val)
|
rs955247503
|
|
|
NM_205861.3(DHDDS):c.591T>G (p.Ser197=)
|
rs794727876
|
|
|
NM_205861.3(DHDDS):c.592C>T (p.Pro198Ser)
|
rs1288778858
|
|
|
NM_205861.3(DHDDS):c.600T>C (p.Pro200=)
|
|
|
|
NM_205861.3(DHDDS):c.603C>T (p.Asp201=)
|
rs775940416
|
|
|
NM_205861.3(DHDDS):c.604A>G (p.Ile202Val)
|
rs1196016348
|
|
|
NM_205861.3(DHDDS):c.613C>T (p.Arg205Trp)
|
|
|
|
NM_205861.3(DHDDS):c.614G>A (p.Arg205Gln)
|
rs1557447255
|
|
|
NM_205861.3(DHDDS):c.615G>T (p.Arg205=)
|
|
|
|
NM_205861.3(DHDDS):c.620C>G (p.Ser207Cys)
|
|
|
|
NM_205861.3(DHDDS):c.621T>A (p.Ser207=)
|
rs1280728029
|
|
|
NM_205861.3(DHDDS):c.621T>C (p.Ser207=)
|
rs1280728029
|
|
|
NM_205861.3(DHDDS):c.623G>A (p.Gly208Glu)
|
|
|
|
NM_205861.3(DHDDS):c.628G>A (p.Val210Met)
|
|
|
|
NM_205861.3(DHDDS):c.63+11del
|
rs2124329873
|
|
|
NM_205861.3(DHDDS):c.63+18G>A
|
|
|
|
NM_205861.3(DHDDS):c.63+19C>T
|
|
|
|
NM_205861.3(DHDDS):c.63+6C>T
|
|
|
|
NM_205861.3(DHDDS):c.63+9T>C
|
|
|
|
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)
|
rs1553122926
|
|
|
NM_205861.3(DHDDS):c.64-11C>T
|
|
|
|
NM_205861.3(DHDDS):c.64-12C>T
|
rs201786378
|
|
|
NM_205861.3(DHDDS):c.64-19T>C
|
|
|
|
NM_205861.3(DHDDS):c.64-19T>G
|
|
|
|
NM_205861.3(DHDDS):c.64-20T>C
|
|
|
|
NM_205861.3(DHDDS):c.64-3C>T
|
|
|
|
NM_205861.3(DHDDS):c.64-6C>T
|
|
|
|
NM_205861.3(DHDDS):c.64-9A>C
|
rs1252758141
|
|
|
NM_205861.3(DHDDS):c.646T>C (p.Leu216=)
|
rs2124489873
|
|
|
NM_205861.3(DHDDS):c.649C>T (p.Leu217=)
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NM_205861.3(DHDDS):c.650_657+54del
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NM_205861.3(DHDDS):c.657+11T>G
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NM_205861.3(DHDDS):c.657+17T>C
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NM_205861.3(DHDDS):c.657+1G>A
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NM_205861.3(DHDDS):c.657+8A>G
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NM_205861.3(DHDDS):c.658-11A>C
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NM_205861.3(DHDDS):c.658-11A>T
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NM_205861.3(DHDDS):c.658-11_658-9dup
|
rs2124501126
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NM_205861.3(DHDDS):c.658-12T>C
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NM_205861.3(DHDDS):c.658-12T>G
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NM_205861.3(DHDDS):c.658-17C>T
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NM_205861.3(DHDDS):c.658-19T>C
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NM_205861.3(DHDDS):c.658-20C>G
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NM_205861.3(DHDDS):c.658-5C>G
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NM_205861.3(DHDDS):c.658-5C>T
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NM_205861.3(DHDDS):c.658-8T>C
|
rs1358796301
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NM_205861.3(DHDDS):c.658-9C>T
|
rs1291000354
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|
NM_205861.3(DHDDS):c.660C>A (p.Thr220=)
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NM_205861.3(DHDDS):c.668C>G (p.Ser223Cys)
|
rs2124501296
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NM_205861.3(DHDDS):c.684A>G (p.Gln228=)
|
rs766651316
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NM_205861.3(DHDDS):c.687C>T (p.Pro229=)
|
rs1166377469
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NM_205861.3(DHDDS):c.691C>T (p.Leu231=)
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NM_205861.3(DHDDS):c.698C>G (p.Pro233Arg)
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NM_205861.3(DHDDS):c.699A>G (p.Pro233=)
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NM_205861.3(DHDDS):c.6A>G (p.Ser2=)
|
rs2124329360
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NM_205861.3(DHDDS):c.702G>A (p.Glu234=)
|
rs2124501446
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NM_205861.3(DHDDS):c.705T>C (p.Tyr235=)
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NM_205861.3(DHDDS):c.709T>C (p.Phe237Leu)
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rs2124501513
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NM_205861.3(DHDDS):c.711T>C (p.Phe237=)
|
rs1258300851
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NM_205861.3(DHDDS):c.714G>A (p.Trp238Ter)
|
rs2124501559
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NM_205861.3(DHDDS):c.717C>G (p.Asn239Lys)
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NM_205861.3(DHDDS):c.720C>T (p.Leu240=)
|
rs1570359391
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NM_205861.3(DHDDS):c.722T>G (p.Phe241Cys)
|
rs1038914770
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NM_205861.3(DHDDS):c.732C>T (p.Ile244=)
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NM_205861.3(DHDDS):c.733C>T (p.Leu245=)
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NM_205861.3(DHDDS):c.744G>C (p.Gln248His)
|
rs2075407784
|
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NM_205861.3(DHDDS):c.750C>A (p.Asn250Lys)
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NM_205861.3(DHDDS):c.750C>T (p.Asn250=)
|
rs373118655
|
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NM_205861.3(DHDDS):c.756C>A (p.Ser252Arg)
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|
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NM_205861.3(DHDDS):c.764A>G (p.Gln255Arg)
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NM_205861.3(DHDDS):c.765+19C>T
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NM_205861.3(DHDDS):c.765+5G>T
|
rs1335999297
|
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|
NM_205861.3(DHDDS):c.765+7A>G
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NM_205861.3(DHDDS):c.765+7A>T
|
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NM_205861.3(DHDDS):c.765+8A>G
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|
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NM_205861.3(DHDDS):c.765+9G>C
|
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NM_205861.3(DHDDS):c.766-10T>C
|
rs1275353596
|
|
|
NM_205861.3(DHDDS):c.766-10T>G
|
rs1275353596
|
|
|
NM_205861.3(DHDDS):c.766-12T>A
|
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|
NM_205861.3(DHDDS):c.766-18C>T
|
rs2124551912
|
|
|
NM_205861.3(DHDDS):c.766-20T>C
|
|
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NM_205861.3(DHDDS):c.766-4del
|
rs2075521285
|
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|
NM_205861.3(DHDDS):c.766-6dup
|
rs2124552025
|
|
|
NM_205861.3(DHDDS):c.766-7C>G
|
|
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NM_205861.3(DHDDS):c.766-8T>C
|
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NM_205861.3(DHDDS):c.772del (p.Arg258fs)
|
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|
|
NM_205861.3(DHDDS):c.773G>A (p.Arg258Gln)
|
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|
|
NM_205861.3(DHDDS):c.776A>G (p.Asp259Gly)
|
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|
NM_205861.3(DHDDS):c.77C>T (p.Pro26Leu)
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NM_205861.3(DHDDS):c.783T>C (p.Tyr261=)
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|
|
|
NM_205861.3(DHDDS):c.789G>A (p.Glu263=)
|
rs2124552202
|
|
|
NM_205861.3(DHDDS):c.792G>C (p.Glu264Asp)
|
|
|
|
NM_205861.3(DHDDS):c.793C>T (p.Arg265Trp)
|
rs749723641
|
|
|
NM_205861.3(DHDDS):c.79A>C (p.Lys27Gln)
|
|
|
|
NM_205861.3(DHDDS):c.801G>A (p.Arg267=)
|
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|
|
NM_205861.3(DHDDS):c.808C>T (p.Leu270=)
|
rs2124552293
|
|
|
NM_205861.3(DHDDS):c.813G>A (p.Glu271=)
|
rs774310289
|
|
|
NM_205861.3(DHDDS):c.816G>A (p.Arg272=)
|
|
|
|
NM_205861.3(DHDDS):c.817G>A (p.Asp273Asn)
|
rs182263884
|
|
|
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr)
|
rs182263884
|
|
|
NM_205861.3(DHDDS):c.81A>G (p.Lys27=)
|
rs759795707
|
|
|
NM_205861.3(DHDDS):c.822G>C (p.Gln274His)
|
rs2124552427
|
|
|
NM_205861.3(DHDDS):c.839A>C (p.Gln280Pro)
|
|
|
|
NM_205861.3(DHDDS):c.842T>C (p.Leu281Pro)
|
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|
|
NM_205861.3(DHDDS):c.843G>A (p.Leu281=)
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|
|
NM_205861.3(DHDDS):c.845T>C (p.Leu282Pro)
|
rs775810457
|
|
|
NM_205861.3(DHDDS):c.846G>C (p.Leu282=)
|
|
|
|
NM_205861.3(DHDDS):c.846G>T (p.Leu282=)
|
rs2075522251
|
|
|
NM_205861.3(DHDDS):c.847C>A (p.Arg283=)
|
rs1327145984
|
|
|
NM_205861.3(DHDDS):c.848G>A (p.Arg283Gln)
|
rs761750566
|
|
|
NM_205861.3(DHDDS):c.851A>G (p.Glu284Gly)
|
|
|
|
NM_205861.3(DHDDS):c.853G>A (p.Gly285Arg)
|
|
|
|
NM_205861.3(DHDDS):c.855G>A (p.Gly285=)
|
rs928446379
|
|
|
NM_205861.3(DHDDS):c.855G>T (p.Gly285=)
|
rs928446379
|
|
|
NM_205861.3(DHDDS):c.856C>A (p.Leu286Ile)
|
|
|
|
NM_205861.3(DHDDS):c.857T>C (p.Leu286Pro)
|
|
|
|
NM_205861.3(DHDDS):c.85A>G (p.Ile29Val)
|
rs2075180906
|
|
|
NM_205861.3(DHDDS):c.864C>T (p.Ala288=)
|
|
|
|
NM_205861.3(DHDDS):c.866G>T (p.Ser289Ile)
|
rs1193686226
|
|
|
NM_205861.3(DHDDS):c.869G>C (p.Gly290Ala)
|
|
|
|
NM_205861.3(DHDDS):c.86T>C (p.Ile29Thr)
|
rs2124374344
|
|
|
NM_205861.3(DHDDS):c.873C>A (p.Asp291Glu)
|
|
|
|
NM_205861.3(DHDDS):c.873C>T (p.Asp291=)
|
rs759006198
|
|
|
NM_205861.3(DHDDS):c.876C>G (p.Ala292=)
|
|
|
|
NM_205861.3(DHDDS):c.879G>A (p.Gln293=)
|
rs1570370915
|
|
|
NM_205861.3(DHDDS):c.883C>T (p.Arg295Ter)
|
|
|
|
NM_205861.3(DHDDS):c.884G>A (p.Arg295Gln)
|
|
|
|
NM_205861.3(DHDDS):c.886A>C (p.Arg296=)
|
rs2124552882
|
|
|
NM_205861.3(DHDDS):c.893G>A (p.Arg298His)
|
|
|
|
NM_205861.3(DHDDS):c.893G>C (p.Arg298Pro)
|
rs778103040
|
|
|
NM_205861.3(DHDDS):c.894C>A (p.Arg298=)
|
|
|
|
NM_205861.3(DHDDS):c.898C>A (p.His300Asn)
|
|
|
|
NM_205861.3(DHDDS):c.898C>T (p.His300Tyr)
|
|
|
|
NM_205861.3(DHDDS):c.909G>C (p.Ser303=)
|
|
|
|
NM_205861.3(DHDDS):c.909G>T (p.Ser303=)
|
rs376517028
|
|
|
NM_205861.3(DHDDS):c.915A>G (p.Arg305=)
|
|
|
|
NM_205861.3(DHDDS):c.916C>A (p.Arg306=)
|
rs139109356
|
|
|
NM_205861.3(DHDDS):c.91T>C (p.Phe31Leu)
|
|
|
|
NM_205861.3(DHDDS):c.921A>G (p.Glu307=)
|
|
|
|
NM_205861.3(DHDDS):c.933A>G (p.Gln311=)
|
|
|
|
NM_205861.3(DHDDS):c.939C>T (p.Phe313=)
|
|
|
|
NM_205861.3(DHDDS):c.93C>T (p.Phe31=)
|
rs1281509733
|
|
|
NM_205861.3(DHDDS):c.940C>T (p.Leu314=)
|
rs1553124038
|
|
|
NM_205861.3(DHDDS):c.945G>C (p.Gln315His)
|
|
|
|
NM_205861.3(DHDDS):c.946G>A (p.Ala316Thr)
|
|
|
|
NM_205861.3(DHDDS):c.946G>T (p.Ala316Ser)
|
|
|
|
NM_205861.3(DHDDS):c.94A>G (p.Ile32Val)
|
|
|
|
NM_205861.3(DHDDS):c.951G>A (p.Leu317=)
|
|
|
|
NM_205861.3(DHDDS):c.957C>G (p.Leu319=)
|
rs763737754
|
|
|
NM_205861.3(DHDDS):c.961C>T (p.Arg321Ter)
|
|
|
|
NM_205861.3(DHDDS):c.962G>A (p.Arg321Gln)
|
rs562974074
|
|
|
NM_205861.3(DHDDS):c.962G>C (p.Arg321Pro)
|
|
|
|
NM_205861.3(DHDDS):c.973C>T (p.Leu325=)
|
|
|
|
NM_205861.3(DHDDS):c.979C>G (p.Arg327Gly)
|
|
|
|
NM_205861.3(DHDDS):c.979C>T (p.Arg327Cys)
|
rs758618507
|
|
|
NM_205861.3(DHDDS):c.980G>A (p.Arg327His)
|
rs780269059
|
|
|
NM_205861.3(DHDDS):c.989C>A (p.Thr330Asn)
|
|
|
|
NM_205861.3(DHDDS):c.995C>G (p.Ser332Ter)
|
|
|
|
Single allele
|
|
|