|
NM_000162.5(GCK):c.46-5883dup
|
rs61641319
|
0.99994
|
|
NM_015981.4(CAMK2A):c.158-19A>C
|
rs891938
|
0.99657
|
|
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)
|
rs659497
|
0.99480
|
|
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)
|
rs1126058
|
0.99080
|
|
NM_000030.3(AGXT):c.846+170C>T
|
rs4675793
|
0.98913
|
|
NM_000027.4(AGA):c.699-25G>C
|
rs4690521
|
0.98895
|
|
NM_000046.3(ARSB):c.-840_-839dup
|
rs1255033691
|
0.98775
|
|
NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly)
|
rs1169305
|
0.98610
|
|
NM_000925.4(PDHB):c.435A>G (p.Arg145=)
|
rs4264746
|
0.98352
|
|
NM_015028.4(TNIK):c.2331G>C (p.Ala777=)
|
rs6444960
|
0.98309
|
|
NM_002299.4(LCT):c.1084A>G (p.Ile362Val)
|
rs4954449
|
0.97993
|
|
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
|
rs2172397
|
0.97909
|
|
NM_000294.2(PHKG2):c.-114T>C
|
rs11863277
|
0.97872
|
|
NM_012203.2(GRHPR):c.404+291T>C
|
rs2768657
|
0.97430
|
|
NM_000154.2(GALK1):c.476-74C>A
|
rs820386
|
0.96509
|
|
NM_000294.3(PHKG2):c.271+38C>T
|
rs4889504
|
0.96355
|
|
NM_001064.4(TKT):c.748+39C>G
|
rs6445573
|
0.96164
|
|
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala)
|
rs1535422
|
0.96071
|
|
NM_000507.4(FBP1):c.653G>A (p.Arg218Lys)
|
rs1769259
|
0.95944
|
|
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile)
|
rs1663564
|
0.94695
|
|
NM_000046.4(ARSB):c.-302A>G
|
rs163127
|
0.94480
|
|
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=)
|
rs2241694
|
0.94205
|
|
NM_002300.8(LDHB):c.713+15A>G
|
rs1650289
|
0.94113
|
|
NM_000207.3(INS):c.187+11T>C
|
rs5506
|
0.93263
|
|
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)
|
rs4302331
|
0.93112
|
|
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
|
NM_000343.4(SLC5A1):c.*2257A>G
|
rs5753868
|
0.92649
|
|
NM_012203.2(GRHPR):c.288-11C>T
|
rs2736664
|
0.92549
|
|
NM_001041.4(SI):c.4569G>A (p.Met1523Ile)
|
rs4855271
|
0.92178
|
|
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser)
|
rs968733
|
0.91637
|
|
NM_000191.3(HMGCL):c.*486G>A
|
rs11714
|
0.91585
|
|
NM_016302.4(CRBN):c.750+32A>G
|
rs1705789
|
0.91072
|
|
NM_001715.3(BLK):c.176-104G>A
|
rs6994605
|
0.90656
|
|
NM_001358263.1(HK1):c.75+5174A>G
|
rs906220
|
0.89921
|
|
NM_000352.6(ABCC8):c.2390+219T>C
|
rs4148632
|
0.89524
|
|
NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
|
NM_002591.4(PCK1):c.550G>C (p.Val184Leu)
|
rs707555
|
0.89165
|
|
NM_024989.4(PGAP1):c.649+17G>A
|
rs12693800
|
0.89159
|
|
NM_016302.4(CRBN):c.175-9T>C
|
rs1669321
|
0.89132
|
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
|
NM_000404.4(GLB1):c.34T>C (p.Leu12=)
|
rs7614776
|
0.88431
|
|
NM_152419.3(HGSNAT):c.*1801T>C
|
rs3739431
|
0.87926
|
|
NM_014026.6(DCPS):c.315G>A (p.Gln105=)
|
rs637462
|
0.87290
|
|
NM_001354735.1(PFKM):c.226C>A (p.Gln76Lys)
|
rs4760682
|
0.86945
|
|
NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
|
NM_012203.2(GRHPR):c.494-68A>G
|
rs309459
|
0.86126
|
|
NM_153747.2(PIGC):c.267T>C (p.Gly89=)
|
rs2230471
|
0.85989
|
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
|
NM_000203.5(IDUA):c.99T>G (p.His33Gln)
|
rs10794537
|
0.85085
|
|
NM_006279.5(ST3GAL3):c.1038+15A>G
|
rs3120803
|
0.84897
|
|
NM_000046.3(ARSB):c.-1178A>G
|
rs163126
|
0.84841
|
|
NM_006721.4(ADK):c.*648C>T
|
rs1189553
|
0.82915
|
|
NM_003597.5(KLF11):c.*1558T>C
|
rs4669522
|
0.82295
|
|
NM_001715.3(BLK):c.-46A>G
|
rs2250788
|
0.82234
|
|
NM_031229.4(RBCK1):c.168-242C>T
|
rs6115906
|
0.81688
|
|
NM_005609.4(PYGM):c.528+74C>A
|
rs489192
|
0.81198
|
|
NM_001715.3(BLK):c.843T>C (p.Phe281=)
|
rs2306234
|
0.81190
|
|
NM_000151.4(G6PC1):c.*1294C>A
|
rs161620
|
0.81032
|
|
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=)
|
rs4880091
|
0.80826
|
|
NM_003477.3(PDHX):c.*644C>A
|
rs7808
|
0.80809
|
|
NM_000458.4(HNF1B):c.*100=
|
rs1555818000
|
0.80645
|
|
NM_001164277.2(SLC37A4):c.-420G>C
|
rs2846281
|
0.80326
|
|
NM_000188.3(HK1):c.1443G>A (p.Lys481=)
|
rs748235
|
0.80224
|
|
NM_000152.5(GAA):c.2331+20G>A
|
rs2304832
|
0.80041
|
|
NM_002591.4(PCK1):c.1140T>C (p.Gly380=)
|
rs2070756
|
0.79829
|
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
|
NM_003477.3(PDHX):c.63C>T (p.Pro21=)
|
rs2956109
|
0.78720
|
|
NM_002299.4(LCT):c.*50G>C
|
rs1042712
|
0.78588
|
|
NM_015957.4(APIP):c.-70T>C
|
rs2956112
|
0.78475
|
|
NM_000289.6(PFKM):c.1880+27A>G
|
rs4075913
|
0.78311
|
|
NM_021957.4(GYS2):c.1169+12A>T
|
rs4639981
|
0.76485
|
|
NM_016203.4(PRKAG2):c.864+35_864+36insA
|
rs35348247
|
0.76395
|
|
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)
|
rs645056
|
0.76333
|
|
NM_005609.4(PYGM):c.999+99T>C
|
rs625172
|
0.76284
|
|
NM_000642.3(AGL):c.894C>T (p.Leu298=)
|
rs2230306
|
0.76251
|
|
NM_021957.4(GYS2):c.1229+11G>A
|
rs1871137
|
0.75356
|
|
NM_000404.4(GLB1):c.955+60A>G
|
rs12632196
|
0.75289
|
|
NM_000545.8(HNF1A):c.1623+29T>C
|
rs1169304
|
0.75160
|
|
NM_000263.4(NAGLU):c.531+50G>C
|
rs2071046
|
0.74899
|
|
NM_006721.4(ADK):c.66-23911C>T
|
rs10824095
|
0.74804
|
|
NM_001366110.1(PAX4):c.*521C>T
|
rs712699
|
0.74699
|
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
|
NM_001366110.1(PAX4):c.*211A>G
|
rs712700
|
0.74585
|
|
NM_021957.4(GYS2):c.1087A>G (p.Met363Val)
|
rs2306180
|
0.74398
|
|
NM_021957.4(GYS2):c.1229+40T>C
|
rs1871136
|
0.74383
|
|
NM_001543.5(NDST1):c.1662G>C (p.Thr554=)
|
rs1290147
|
0.74209
|
|
NM_000151.4(G6PC1):c.*2095T>A
|
rs692180
|
0.74089
|
|
NM_000642.3(AGL):c.959-18G>A
|
rs634880
|
0.73702
|
|
NM_000151.4(G6PC1):c.*23T>C
|
rs2229611
|
0.73413
|
|
NM_005609.4(PYGM):c.1403+49C>A
|
rs2959652
|
0.73109
|
|
NM_000925.4(PDHB):c.701-64G>T
|
rs2070662
|
0.72970
|
|
NM_152419.3(HGSNAT):c.371+82C>T
|
rs10958738
|
0.72852
|
|
NM_000925.4(PDHB):c.*296C>G
|
rs7231
|
0.72833
|
|
NM_031229.4(RBCK1):c.918-61A>G
|
rs2057251
|
0.72369
|
|
NM_001041.4(SI):c.3888+19C>T
|
rs2290738
|
0.72200
|
|
NM_021957.4(GYS2):c.1422+23C>G
|
rs7977474
|
0.72064
|
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
|
NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
|
NM_000152.5(GAA):c.324T>C (p.Cys108=)
|
rs1800300
|
0.71989
|
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
|
NM_000152.5(GAA):c.2338G>A (p.Val780Ile)
|
rs1126690
|
0.71839
|
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
|
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)
|
rs12952612
|
0.71802
|
|
NM_000352.6(ABCC8):c.4608+54G>C
|
rs4148646
|
0.71546
|
|
NM_000213.5(ITGB4):c.*25C>T
|
rs9367
|
0.71419
|
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
|
NM_000352.6(ABCC8):c.2390+123C>T
|
rs4148631
|
0.70926
|
|
NM_000352.6(ABCC8):c.2390+93C>T
|
rs4148630
|
0.70902
|
|
NM_002076.4(GNS):c.198G>A (p.Pro66=)
|
rs1147096
|
0.70681
|
|
NM_000188.3(HK1):c.1839+31G>A
|
rs749105
|
0.70672
|
|
NM_006721.4(ADK):c.878-71T>C
|
rs10740443
|
0.69570
|
|
NM_002299.4(LCT):c.4606C>T (p.Leu1536=)
|
rs2304371
|
0.69539
|
|
NM_000151.4(G6PC1):c.*2088A>T
|
rs9902963
|
0.69330
|
|
NM_005609.4(PYGM):c.660+35G>A
|
rs589691
|
0.68983
|
|
NM_002076.4(GNS):c.793-68G>C
|
rs1690277
|
0.68800
|
|
NM_017755.6(NSUN2):c.1602-11G>T
|
rs2303707
|
0.68523
|
|
NM_002500.5(NEUROD1):c.-73G>A
|
rs2583016
|
0.68252
|
|
NM_005609.4(PYGM):c.529-82G>A
|
rs490980
|
0.67990
|
|
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala)
|
rs1801262
|
0.67693
|
|
NM_000154.2(GALK1):c.356-32C>T
|
rs7209235
|
0.67684
|
|
NM_000458.4(HNF1B):c.1654-22=
|
rs3110641
|
0.67606
|
|
NM_001543.5(NDST1):c.1097-28T>C
|
rs2545341
|
0.67102
|
|
NM_000199.5(SGSH):c.*848C>G
|
rs709677
|
0.67025
|
|
NM_000199.5(SGSH):c.*840A>G
|
rs709678
|
0.66962
|
|
NM_000108.5(DLD):c.*487C>T
|
rs4518
|
0.66588
|
|
NM_000152.5(GAA):c.1551+49C>A
|
rs2304843
|
0.66585
|
|
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=)
|
rs1141108
|
0.66577
|
|
NM_006618.5(KDM5B):c.747G>A (p.Thr249=)
|
rs3196669
|
0.66570
|
|
NM_000528.4(MAN2B1):c.2267+63A>G
|
rs3815914
|
0.66212
|
|
NM_000108.5(DLD):c.*978T>C
|
rs2158835
|
0.66205
|
|
NM_000108.5(DLD):c.*1451T>C
|
rs2108223
|
0.66202
|
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
|
NM_003754.3(EIF3F):c.561C>T (p.His187=)
|
rs4758267
|
0.66119
|
|
NM_022042.4(SLC26A1):c.-27-209T>C
|
rs3822020
|
0.66105
|
|
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)
|
rs1049434
|
0.66103
|
|
NM_003051.4(SLC16A1):c.*1414C>T
|
rs7169
|
0.66095
|
|
NM_000108.5(DLD):c.199-108T>C
|
rs10250718
|
0.66040
|
|
NM_001008216.2(GALE):c.873+13G>A
|
rs760941
|
0.65959
|
|
NM_000108.5(DLD):c.*207G>A
|
rs4564
|
0.65906
|
|
NM_000642.3(AGL):c.3259+37G>A
|
rs594249
|
0.65860
|
|
NM_000642.3(AGL):c.2812+11G>A
|
rs555929
|
0.65828
|
|
NM_000152.5(GAA):c.547-39T>G
|
rs12452721
|
0.65696
|
|
NM_000152.5(GAA):c.547-67C>G
|
rs8069491
|
0.65691
|
|
NM_000152.5(GAA):c.596A>G (p.His199Arg)
|
rs1042393
|
0.65667
|
|
NM_000152.5(GAA):c.547-4C>G
|
rs3816256
|
0.65665
|
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
|
NM_000308.4(CTSA):c.693-33A>G
|
rs4810476
|
0.65662
|
|
NM_000308.4(CTSA):c.1088+10C>T
|
rs4608591
|
0.65654
|
|
NM_000152.5(GAA):c.1438-19G>C
|
rs2304844
|
0.65495
|
|
NM_000308.4(CTSA):c.948+7G>A
|
rs2075961
|
0.65493
|
|
NM_000152.5(GAA):c.955+12G>A
|
rs2252455
|
0.65487
|
|
NM_000027.4(AGA):c.941-84C>G
|
rs3805167
|
0.65485
|
|
NM_000152.5(GAA):c.1203G>A (p.Gln401=)
|
rs1800304
|
0.65453
|
|
NM_000152.5(GAA):c.1438-108G>A
|
rs12944802
|
0.65436
|
|
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser)
|
rs238238
|
0.65415
|
|
NM_000152.5(GAA):c.858+30T>C
|
rs2304845
|
0.65092
|
|
NM_032808.7(LINGO1):c.714G>C (p.Leu238=)
|
rs2271396
|
0.65067
|
|
NM_032808.7(LINGO1):c.474A>G (p.Leu158=)
|
rs2271397
|
0.64965
|
|
NM_000262.3(NAGA):c.279G>A (p.Pro93=)
|
rs133369
|
0.64950
|
|
NM_032808.7(LINGO1):c.465C>T (p.Ile155=)
|
rs2271398
|
0.64821
|
|
NM_002291.3(LAMB1):c.5225-7C>T
|
rs3213673
|
0.64814
|
|
NM_003477.3(PDHX):c.*486G>T
|
rs9326
|
0.64744
|
|
NM_005566.4(LDHA):c.483C>T (p.Ser161=)
|
rs4687
|
0.64502
|
|
NM_005566.4(LDHA):c.519A>G (p.Leu173=)
|
rs4820
|
0.64482
|
|
NM_005566.4(LDHA):c.*639T>C
|
rs3758682
|
0.64017
|
|
NM_005670.4(EPM2A):c.159C>G (p.Ala53=)
|
rs2235482
|
0.63686
|
|
NM_001360016.2(G6PD):c.1365-13C>T
|
rs2071429
|
0.63462
|
|
NM_002076.4(GNS):c.*380C>T
|
rs674
|
0.63058
|
|
NM_002294.3(LAMP2):c.*4579A>G
|
rs42885
|
0.62750
|
|
NM_000262.3(NAGA):c.*1929C>T
|
rs5758566
|
0.62119
|
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
|
NM_000642.3(AGL):c.*732C>T
|
rs3766600
|
0.61998
|
|
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)
|
rs871443
|
0.61836
|
|
NM_000262.3(NAGA):c.-208G>C
|
rs133375
|
0.61550
|
|
NM_006618.5(KDM5B):c.1887C>T (p.His629=)
|
rs1892164
|
0.60950
|
|
NM_012203.2(GRHPR):c.404+153T>C
|
rs2768658
|
0.60907
|
|
NM_000152.5(GAA):c.1754+144C>T
|
rs2304838
|
0.60815
|
|
NM_002299.4(LCT):c.5568T>C (p.Ala1856=)
|
rs2278544
|
0.60314
|
|
NM_000027.4(AGA):c.127+25C>T
|
rs11131799
|
0.60222
|
|
NM_003477.3(PDHX):c.858T>C (p.Val286=)
|
rs497582
|
0.59662
|
|
NM_006279.5(ST3GAL3):c.1039-18C>T
|
rs2108202
|
0.59490
|
|
NM_000207.3(INS):c.-17-6T>A
|
rs689
|
0.59334
|
|
NM_000207.3(INS):c.*22A>C
|
rs3842753
|
0.59307
|
|
NM_001352514.2(HLCS):c.1893-46G>T
|
rs2073421
|
0.59296
|
|
NM_005883.3(APC2):c.413+95T>C
|
rs12985827
|
0.59265
|
|
NM_002299.4(LCT):c.4916A>G (p.Asn1639Ser)
|
rs2322659
|
0.59219
|
|
NM_003477.2(PDHX):c.-88C>A
|
rs2956110
|
0.59089
|
|
NM_000343.4(SLC5A1):c.*706C>T
|
rs1056444
|
0.58787
|
|
NM_000458.4(HNF1B):c.*444=
|
rs2688
|
0.58526
|
|
NM_001041.4(SI):c.1797G>T (p.Ala599=)
|
rs9838509
|
0.58296
|
|
NM_001041.4(SI):c.1437C>T (p.Asn479=)
|
rs9290257
|
0.57954
|
|
NM_001041.4(SI):c.1512+25G>A
|
rs9290256
|
0.57954
|
|
NM_000152.5(GAA):c.2553G>A (p.Gly851=)
|
rs1042397
|
0.57872
|
|
NM_001041.4(SI):c.1278+42_1278+43insAT
|
rs60170840
|
0.57854
|
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
|
NM_001041.4(SI):c.1146+13A>C
|
rs9290259
|
0.57783
|
|
NM_001160372.4(TRAPPC9):c.2557-13T>A
|
rs9792174
|
0.57247
|
|
NM_175914.5(HNF4A):c.1217-67C>G
|
rs3746575
|
0.56796
|
|
NM_175914.5(HNF4A):c.827-88T>C
|
rs2273618
|
0.56736
|
|
NM_001041.4(SI):c.691A>G (p.Thr231Ala)
|
rs9283633
|
0.56659
|
|
NM_000188.3(HK1):c.2219+27T>C
|
rs2278745
|
0.56586
|
|
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=)
|
rs3735801
|
0.55959
|
|
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=)
|
rs3735802
|
0.55845
|
|
NM_001715.3(BLK):c.-1-105C>G
|
rs12386974
|
0.55690
|
|
NM_000152.5(GAA):c.1637-185A>G
|
rs12951255
|
0.55461
|
|
NM_015028.4(TNIK):c.63C>T (p.Pro21=)
|
rs3796295
|
0.55370
|
|
NM_005908.4(MANBA):c.*384C>T
|
rs4019
|
0.55353
|
|
NM_005908.4(MANBA):c.*401G>A
|
rs4013
|
0.55336
|
|
NM_005908.4(MANBA):c.2015-28G>A
|
rs4547797
|
0.55331
|
|
NM_005908.4(MANBA):c.2368T>C (p.Leu790=)
|
rs2272697
|
0.55313
|
|
NM_005908.4(MANBA):c.*124T>C
|
rs3194585
|
0.55297
|
|
NM_005908.4(MANBA):c.*161C>T
|
rs1054029
|
0.55296
|
|
NM_175914.5(HNF4A):c.670+141A>G
|
rs6103731
|
0.55192
|
|
NM_001352514.2(HLCS):c.1438-36G>A
|
rs2073425
|
0.55169
|
|
NM_003597.5(KLF11):c.*1853T>C
|
rs7632
|
0.55083
|
|
NM_000199.5(SGSH):c.250-26C>T
|
rs4889839
|
0.54568
|
|
NM_005908.4(MANBA):c.*505G>A
|
rs1054037
|
0.54146
|
|
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=)
|
rs7158
|
0.53959
|
|
NM_000046.5(ARSB):c.*1302G>T
|
rs754566
|
0.53627
|
|
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr)
|
rs13119545
|
0.53595
|
|
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=)
|
rs2292597
|
0.53313
|
|
NM_001064.4(TKT):c.1264+17T>C
|
rs3736156
|
0.53227
|
|
NM_002076.4(GNS):c.*2361C>G
|
rs1061743
|
0.52503
|
|
NM_138775.3(ALKBH8):c.878+31T>A
|
rs589788
|
0.52394
|
|
NM_001365304.2(LOC112694756):c.*489-63G>C
|
rs9783783
|
0.52268
|
|
NM_000891.3(KCNJ2):c.*1267A>G
|
rs236514
|
0.52229
|
|
NM_000181.4(GUSB):c.1065+27C>G
|
rs781143
|
0.52153
|
|
NM_000458.4(HNF1B):c.544+1391T>C
|
rs4430796
|
0.52088
|
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
|
NM_002299.4(LCT):c.1419C>A (p.Gly473=)
|
rs6719488
|
0.51566
|
|
NM_000507.4(FBP1):c.*21C>T
|
rs9695
|
0.51483
|
|
NM_002299.4(LCT):c.582C>T (p.Thr194=)
|
rs2236783
|
0.51423
|
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
|
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)
|
rs627441
|
0.51169
|
|
NM_000507.4(FBP1):c.705+14C>T
|
rs2297084
|
0.51109
|
|
NM_002076.4(GNS):c.*1353G>A
|
rs1269548
|
0.51078
|
|
NM_000642.3(AGL):c.2001+8T>C
|
rs3736296
|
0.51012
|
|
NM_000528.4(MAN2B1):c.1310-22C>T
|
rs73002392
|
0.50963
|
|
NM_006488.3(KHK):c.-469A>C
|
rs6742004
|
0.50895
|
|
NM_001164277.1(SLC37A4):c.-755T>A
|
rs1784559
|
0.50768
|
|
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)
|
rs9530
|
0.50676
|
|
NM_000027.4(AGA):c.*183A>C
|
rs1061814
|
0.50675
|
|
NM_015028.4(TNIK):c.744C>T (p.Asn248=)
|
rs12637875
|
0.50558
|
|
NM_016219.5(MAN1B1):c.*384A>G
|
rs4567
|
0.49708
|
|
NM_000181.4(GUSB):c.1653+151A>G
|
rs1880555
|
0.49681
|
|
NM_016203.4(PRKAG2):c.114+13034A>G
|
rs4726104
|
0.49619
|
|
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)
|
rs2304854
|
0.49481
|
|
NM_001715.3(BLK):c.330T>C (p.Ser110=)
|
rs3816668
|
0.49161
|
|
NM_000199.5(SGSH):c.*855T>C
|
rs1046832
|
0.48983
|
|
NM_000158.4(GBE1):c.-28G>T
|
rs368460254
|
0.48974
|
|
NM_017950.4(CCDC40):c.*149T>C
|
rs2304852
|
0.48973
|
|
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)
|
rs7637099
|
0.48281
|
|
NM_000642.3(AGL):c.2950-21T>A
|
rs2035961
|
0.48240
|
|
NM_005566.4(LDHA):c.*720C>G
|
rs3758683
|
0.48049
|
|
NM_005566.4(LDHA):c.*622A>G
|
rs3758681
|
0.47986
|
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
|
NM_000642.3(AGL):c.*1028C>T
|
rs3766601
|
0.47451
|
|
NM_000199.5(SGSH):c.*315C>T
|
rs2071148
|
0.47300
|
|
NM_000343.4(SLC5A1):c.1129+7T>G
|
rs5998233
|
0.47147
|
|
NM_021957.4(GYS2):c.*152C>T
|
rs936
|
0.46898
|
|
NM_002591.4(PCK1):c.611-44G>C
|
rs2070755
|
0.46851
|
|
NM_000199.5(SGSH):c.663+17T>C
|
rs6565647
|
0.46516
|
|
NM_000642.3(AGL):c.3836+45G>A
|
rs2274570
|
0.46505
|
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
|
NM_015981.4(CAMK2A):c.1238-44G>A
|
rs2241695
|
0.46240
|
|
NM_175914.5(HNF4A):c.1217-145T>C
|
rs3746574
|
0.46132
|
|
NM_000035.4(ALDOB):c.*1151A>G
|
rs491979
|
0.46095
|
|
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=)
|
rs3735803
|
0.45974
|
|
NM_053013.4(ENO3):c.-3+3C>T
|
rs366577
|
0.45968
|
|
NM_138775.3(ALKBH8):c.1288-3C>T
|
rs654093
|
0.45699
|
|
NM_080749.4(NEURL2):c.-13C>T
|
rs2868362
|
0.45384
|
|
NM_002591.4(PCK1):c.*120T>G
|
rs1042531
|
0.45356
|
|
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly)
|
rs12732924
|
0.45161
|
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
|
NM_031229.4(RBCK1):c.22+33C>T
|
rs3746792
|
0.44804
|
|
NM_175914.5(HNF4A):c.50-38T>C
|
rs736824
|
0.44632
|
|
NM_000525.4(KCNJ11):c.*215C>T
|
rs5210
|
0.44390
|
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
|
NM_001164277.2(SLC37A4):c.-516G>A
|
rs3759012
|
0.44121
|
|
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser)
|
rs1063412
|
0.44041
|
|
NM_000046.5(ARSB):c.*2022T>G
|
rs7704939
|
0.43898
|
|
NM_002591.4(PCK1):c.69A>G (p.Leu23=)
|
rs1042521
|
0.43803
|
|
NM_000525.4(KCNJ11):c.*441T>C
|
rs2285676
|
0.43747
|
|
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=)
|
rs3743481
|
0.43645
|
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
|
NM_012434.5(SLC17A5):c.979-87A>G
|
rs628038
|
0.43140
|
|
NM_053013.4(ENO3):c.254T>C (p.Val85Ala)
|
rs238239
|
0.43006
|
|
NM_018444.4(PDP1):c.*36T>C
|
rs4735258
|
0.42976
|
|
NM_001715.3(BLK):c.*176C>T
|
rs1042689
|
0.42891
|
|
NM_002591.4(PCK1):c.489A>G (p.Ser163=)
|
rs1062601
|
0.42887
|
|
NM_002591.4(PCK1):c.462A>G (p.Ser154=)
|
rs1042523
|
0.42809
|
|
NM_000545.8(HNF1A):c.51C>G (p.Leu17=)
|
rs1169289
|
0.42543
|
|
NM_001715.3(BLK):c.-1-53G>A
|
rs2245250
|
0.41844
|
|
NM_001543.5(NDST1):c.681T>G (p.Val227=)
|
rs2273235
|
0.41747
|
|
NM_001715.3(BLK):c.1313-28C>T
|
rs10097015
|
0.41687
|
|
NM_001715.3(BLK):c.123+88G>T
|
rs2245232
|
0.41611
|
|
NM_000035.4(ALDOB):c.800-76T>C
|
rs506571
|
0.41593
|
|
NM_001739.2(CA5A):c.143-9T>A
|
rs12922226
|
0.41434
|
|
NM_000642.3(AGL):c.-10A>G
|
rs2307130
|
0.41188
|
|
NM_000035.4(ALDOB):c.*69C>T
|
rs4577
|
0.41145
|
|
NM_000507.4(FBP1):c.567+31G>A
|
rs3739747
|
0.41075
|
|
NM_001352514.2(HLCS):c.2122-30G>A
|
rs2073420
|
0.40931
|
|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
|
NM_001352514.2(HLCS):c.*3141_*3142dup
|
rs3031056
|
0.40694
|
|
NM_138413.4(HOGA1):c.*445A>G
|
rs1812286
|
0.40584
|
|
NM_138413.4(HOGA1):c.*711G>A
|
rs11189295
|
0.40516
|
|
NM_138413.4(HOGA1):c.*498G>A
|
rs2018017
|
0.40451
|
|
NM_000642.3(AGL):c.*1541T>C
|
rs3766603
|
0.40438
|
|
NM_000528.4(MAN2B1):c.910-73A>G
|
rs2303731
|
0.40412
|
|
NM_138413.4(HOGA1):c.*355C>T
|
rs1977642
|
0.40312
|
|
NM_000203.5(IDUA):c.60G>A (p.Ala20=)
|
rs10902762
|
0.39819
|
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
|
NM_000203.5(IDUA):c.24C>A (p.Ala8=)
|
rs11248061
|
0.39731
|
|
NM_002591.4(PCK1):c.453G>A (p.Ser151=)
|
rs1062600
|
0.39601
|
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
|
NM_005908.4(MANBA):c.757G>A (p.Val253Ile)
|
rs227368
|
0.39095
|
|
NM_001715.3(BLK):c.1030-38C>T
|
rs4841561
|
0.38972
|
|
NM_000158.4(GBE1):c.-57G>A
|
rs2290081
|
0.38912
|
|
NC_000003.12:g.171027026T>C
|
rs5396
|
0.38870
|
|
NM_012434.5(SLC17A5):c.*971G>A
|
rs670248
|
0.38715
|
|
NM_020066.5(FMN2):c.1413C>A (p.Ala471=)
|
rs10926124
|
0.38564
|
|
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=)
|
rs5398
|
0.38373
|
|
NM_000262.3(NAGA):c.*1333T>C
|
rs1063392
|
0.38250
|
|
NM_000512.5(GALNS):c.120+1532G>C
|
rs34150867
|
0.38226
|
|
NM_017950.4(CCDC40):c.*186A>C
|
rs2304851
|
0.38175
|
|
NM_000458.4(HNF1B):c.*274=
|
rs2689
|
0.38166
|
|
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=)
|
rs8669
|
0.37872
|
|
NM_000642.3(AGL):c.*1296A>C
|
rs1804809
|
0.37745
|
|
NM_001064.4(TKT):c.748+17C>T
|
rs2242301
|
0.37137
|
|
NM_006488.3(KHK):c.145G>A (p.Val49Ile)
|
rs2304681
|
0.36761
|
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
|
NM_001360016.2(G6PD):c.*357=
|
rs1050757
|
0.36655
|
|
G6PD:c.1455-13T>C
|
rs2071429
|
0.36538
|
|
NM_000188.3(HK1):c.78C>G (p.Leu26=)
|
rs1133189
|
0.36523
|
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
|
NM_003477.2(PDHX):c.-272G>A
|
rs2956111
|
0.36407
|
|
NM_014415.4(ZBTB11):c.1624-4C>T
|
rs11712748
|
0.36125
|
|
NM_000030.3(AGXT):c.595+100G>A
|
rs12997245
|
0.35955
|
|
NM_000158.4(GBE1):c.*176G>A
|
rs846
|
0.35837
|
|
NM_017950.4(CCDC40):c.*15T>C
|
rs2304853
|
0.35502
|
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
|
NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)
|
rs56407805
|
0.35335
|
|
NM_000046.5(ARSB):c.1143-27A>C
|
rs25415
|
0.35324
|
|
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
|
rs10949483
|
0.35277
|
|
NM_015981.4(CAMK2A):c.1467-4A>G
|
rs55976097
|
0.35152
|
|
NM_020897.3(HCN3):c.*1069C>T
|
rs8847
|
0.35054
|
|
NM_000298.6(PKLR):c.*267C>T
|
rs932972
|
0.35051
|
|
NM_000298.6(PKLR):c.1705C>A (p.Arg569=)
|
rs1052176
|
0.35034
|
|
NM_020066.5(FMN2):c.2517C>G (p.Thr839=)
|
rs10926166
|
0.34857
|
|
NM_001715.3(BLK):c.*428G>A
|
rs1042701
|
0.34826
|
|
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)
|
rs1133330
|
0.34583
|
|
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)
|
rs1065757
|
0.34419
|
|
NM_015957.4(APIP):c.19C>T (p.Arg7Trp)
|
rs2956114
|
0.34353
|
|
NM_000308.4(CTSA):c.1359+35G>A
|
rs7270170
|
0.34309
|
|
NM_000458.4(HNF1B):c.1535-177T>C
|
rs2269841
|
0.34224
|
|
NM_138413.4(HOGA1):c.835-120A>G
|
rs1124116
|
0.34185
|
|
NM_000458.4(HNF1B):c.1535-225_1535-224insC
|
rs11440398
|
0.34179
|
|
NM_003384.3(VRK1):c.217-244T>C
|
rs12586511
|
0.34167
|
|
NM_000162.5(GCK):c.1253+8C>T
|
rs2908274
|
0.34109
|
|
NM_017755.6(NSUN2):c.97-6C>T
|
rs10076470
|
0.34106
|
|
NM_000162.5(GCK):c.*759del
|
rs55714218
|
0.33944
|
|
NM_017755.6(NSUN2):c.51G>A (p.Glu17=)
|
rs10062086
|
0.33934
|
|
NM_000411.7(HLCS):c.-480-12A>G
|
rs115866403
|
0.33322
|
|
NM_000512.5(GALNS):c.*367T>C
|
rs1141390
|
0.33207
|
|
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)
|
rs2303436
|
0.32827
|
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
|
NM_000030.3(AGXT):c.777-45C>T
|
rs12478859
|
0.32606
|
|
NM_006279.5(ST3GAL3):c.209+9925A>G
|
rs37458
|
0.32581
|
|
NM_012434.5(SLC17A5):c.1112-36G>A
|
rs4708065
|
0.32463
|
|
NM_006488.3(KHK):c.*767C>T
|
rs1131375
|
0.32419
|
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
|
NM_031229.4(RBCK1):c.1029+39C>G
|
rs6051905
|
0.32396
|
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
|
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)
|
rs10891314
|
0.32172
|
|
NM_000202.8(IDS):c.438C>T (p.Thr146=)
|
rs1141608
|
0.32051
|
|
NM_000642.3(AGL):c.*272G>T
|
rs1804808
|
0.31955
|
|
NM_000507.4(FBP1):c.426+7C>T
|
rs8192689
|
0.31642
|
|
NM_003051.4(SLC16A1):c.*1942T>C
|
rs9429505
|
0.31556
|
|
NM_000108.5(DLD):c.*18A>T
|
rs8721
|
0.31455
|
|
NM_000108.5(DLD):c.438+83G>A
|
rs17412104
|
0.31437
|
|
NM_001715.3(BLK):c.-190C>T
|
rs922483
|
0.31162
|
|
NM_000108.5(DLD):c.*1688G>A
|
rs8440
|
0.31157
|
|
NM_000199.5(SGSH):c.664-36T>C
|
rs35087113
|
0.31148
|
|
NM_006765.4(TUSC3):c.309-6T>C
|
rs1035972
|
0.31124
|
|
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)
|
rs7503034
|
0.31021
|
|
NM_000507.4(FBP1):c.651C>T (p.Ala217=)
|
rs1042144
|
0.30883
|
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
|
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)
|
rs1054486
|
0.30800
|
|
NM_000030.3(AGXT):c.943-117C>T
|
rs10199038
|
0.30790
|
|
NM_021957.4(GYS2):c.*6A>T
|
rs10431213
|
0.30676
|
|
NM_000030.3(AGXT):c.846+199G>A
|
rs13030904
|
0.30492
|
|
NM_022895.3(C12orf43):c.*2523C>T
|
rs1169310
|
0.30485
|
|
NM_000545.8(HNF1A):c.1501+7G>A
|
rs2464195
|
0.30441
|
|
NM_022895.3(C12orf43):c.*2764C>A
|
rs1169309
|
0.30438
|
|
NM_006859.4(LIAS):c.884-14T>A
|
rs2125314
|
0.30396
|
|
NM_000046.5(ARSB):c.313-26T>C
|
rs3733895
|
0.30072
|
|
NM_000925.4(PDHB):c.267+42G>A
|
rs62259772
|
0.30062
|
|
NM_000925.4(PDHB):c.438G>A (p.Gly146=)
|
rs1126551
|
0.30058
|
|
NM_000289.5(PFKM):c.-112T>G
|
rs12306290
|
0.29895
|
|
NM_004130.4(GYG1):c.552G>A (p.Pro184=)
|
rs4938
|
0.29862
|
|
NM_000289.6(PFKM):c.428-39G>A
|
rs2269933
|
0.29774
|
|
NM_001366110.1(PAX4):c.*477C>T
|
rs327520
|
0.29767
|
|
NM_015028.4(TNIK):c.1419+19A>G
|
rs6444965
|
0.29767
|
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
|
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
|
NM_000925.4(PDHB):c.*243A>C
|
rs1126722
|
0.29583
|
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
|
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His)
|
rs3795677
|
0.29272
|
|
NM_000642.3(AGL):c.1424-44A>G
|
rs2291638
|
0.29229
|
|
NM_000458.4(HNF1B):c.1535-46T>G
|
rs2269842
|
0.29082
|
|
NM_000545.8(HNF1A):c.326+91A>G
|
rs2244608
|
0.28699
|
|
NM_002103.5(GYS1):c.1026C>T (p.Phe342=)
|
rs5464
|
0.28606
|
|
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)
|
rs1126565
|
0.28594
|
|
NM_002294.3(LAMP2):c.*5038A>G
|
rs2748
|
0.28585
|
|
NM_000545.8(HNF1A):c.327-42G>A
|
rs1169294
|
0.28559
|
|
NM_000046.5(ARSB):c.*1257A>C
|
rs754567
|
0.28549
|
|
NM_001164277.2(SLC37A4):c.*125G>C
|
rs8301
|
0.28518
|
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
|
NM_002591.4(PCK1):c.*361G>A
|
rs878859807
|
0.28332
|
|
NM_000925.4(PDHB):c.*353T>C
|
rs1126735
|
0.28091
|
|
NM_012203.2(GRHPR):c.-92C>T
|
rs4878690
|
0.27923
|
|
NM_000545.8(HNF1A):c.327-158C>T
|
rs1169292
|
0.27502
|
|
NM_001160372.4(TRAPPC9):c.1134+21A>G
|
rs3779658
|
0.27421
|
|
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg)
|
rs13551
|
0.27120
|
|
NM_000458.4(HNF1B):c.*99C>A
|
rs2229295
|
0.27047
|
|
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)
|
rs25413
|
0.27041
|
|
NM_000291.4(PGK1):c.522-24C>T
|
rs2007039
|
0.26980
|
|
NM_003051.4(SLC16A1):c.362-21A>C
|
rs201021807
|
0.26702
|
|
NM_138413.4(HOGA1):c.*313A>C
|
rs933057
|
0.26438
|
|
NM_000411.8(HLCS):c.-405T>C
|
rs117476389
|
0.26368
|
|
NM_000545.8(HNF1A):c.527-23C>T
|
rs1169301
|
0.26300
|
|
NM_000512.5(GALNS):c.*611A>G
|
rs1135364
|
0.26293
|
|
NM_001041.4(SI):c.43G>T (p.Val15Phe)
|
rs9290264
|
0.26247
|
|
NM_000545.8(HNF1A):c.1460G>A (p.Ser487Asn)
|
rs2464196
|
0.26206
|
|
NM_000545.8(HNF1A):c.1375C>T (p.Leu459=)
|
rs2259820
|
0.26141
|
|
NM_012434.5(SLC17A5):c.*385C>G
|
rs3734518
|
0.26106
|
|
NM_016219.5(MAN1B1):c.1765-5C>A
|
rs12115325
|
0.25976
|
|
NM_000411.7(HLCS):c.-466A>G
|
rs117138955
|
0.25759
|
|
NM_000411.7(HLCS):c.-471A>G
|
rs118091633
|
0.25745
|
|
NM_001041.4(SI):c.*68T>C
|
rs73018867
|
0.25607
|
|
NM_000035.4(ALDOB):c.540+84A>C
|
rs1929480
|
0.25349
|
|
NM_000411.8(HLCS):c.-433C>T
|
rs115711809
|
0.25319
|
|
NM_000545.8(HNF1A):c.864G>C (p.Gly288=)
|
rs56348580
|
0.25042
|
|
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)
|
rs8192696
|
0.24916
|
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
|
NM_175914.5(HNF4A):c.*1132C>T
|
rs6130615
|
0.24797
|
|
NM_138775.3(ALKBH8):c.1030+9A>G
|
rs12574614
|
0.24106
|
|
NM_000642.3(AGL):c.83-33C>T
|
rs2307129
|
0.24077
|
|
NM_152419.3(HGSNAT):c.1377+20G>A
|
rs17603428
|
0.24049
|
|
NM_000512.5(GALNS):c.*36G>A
|
rs11076715
|
0.23846
|
|
NM_002299.4(LCT):c.4465-37C>T
|
rs2304370
|
0.23782
|
|
NM_000152.5(GAA):c.2133A>G (p.Thr711=)
|
rs1800310
|
0.23591
|
|
NM_000512.5(GALNS):c.*652A>G
|
rs1135366
|
0.23189
|
|
NM_006516.4(SLC2A1):c.-197A>C
|
rs11537640
|
0.23186
|
|
NM_000162.5(GCK):c.46-4521C>A
|
rs2070971
|
0.23160
|
|
NM_006516.2(SLC2A1):c.-390delA
|
rs28365848
|
0.23160
|
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
|
NM_000284.4(PDHA1):c.*1394C>T
|
rs55856360
|
0.22991
|
|
NM_015028.4(TNIK):c.2316C>T (p.Leu772=)
|
rs2291900
|
0.22910
|
|
NM_000284.4(PDHA1):c.760-15C>A
|
rs7058209
|
0.22904
|
|
NM_000340.2(SLC2A2):c.496+8A>T
|
rs5402
|
0.22868
|
|
NM_000284.4(PDHA1):c.*1059G>A
|
rs15816
|
0.22867
|
|
NM_000284.4(PDHA1):c.*844A>G
|
rs1042453
|
0.22833
|
|
NM_000284.4(PDHA1):c.*728C>T
|
rs1042452
|
0.22767
|
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.22765
|
|
NC_000003.12:g.171027131T>G
|
rs5393
|
0.22748
|
|
NM_000162.5(GCK):c.209-236G>T
|
rs2971677
|
0.22722
|
|
NM_000284.4(PDHA1):c.*319G>T
|
rs1042449
|
0.22677
|
|
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=)
|
rs12549048
|
0.22639
|
|
NM_000284.4(PDHA1):c.*322G>A
|
rs1042450
|
0.22629
|
|
NM_012434.5(SLC17A5):c.526-106G>T
|
rs3757111
|
0.22477
|
|
NM_020066.5(FMN2):c.1830A>G (p.Ser610=)
|
rs3765588
|
0.22473
|
|
NM_000203.5(IDUA):c.352C>T (p.Leu118=)
|
rs3755954
|
0.22368
|
|
NM_000925.4(PDHB):c.793-41G>A
|
rs62259769
|
0.22293
|
|
NM_000152.5(GAA):c.*223C>T
|
rs8132
|
0.22255
|
|
NM_000925.4(PDHB):c.*99C>T
|
rs7230
|
0.22245
|
|
NM_000925.4(PDHB):c.*356A>G
|
rs1126737
|
0.22224
|
|
NM_000458.4(HNF1B):c.*924C>G
|
rs10962
|
0.22156
|
|
NM_144563.3(RPIA):c.*531T>G
|
rs6974
|
0.22151
|
|
NM_000343.4(SLC5A1):c.*1804T>C
|
rs17683807
|
0.22133
|
|
NM_003477.2(PDHX):c.-129C>T
|
rs112032820
|
0.22090
|
|
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)
|
rs11539202
|
0.21800
|
|
NM_000203.5(IDUA):c.1525-38T>C
|
rs1131853
|
0.21794
|
|
NM_000404.4(GLB1):c.*354T>C
|
rs12167
|
0.21789
|
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
|
NM_000512.5(GALNS):c.*701C>G
|
rs77936719
|
0.21621
|
|
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=)
|
rs1385129
|
0.21537
|
|
NM_000340.2(SLC2A2):c.776-15C>T
|
rs5406
|
0.21500
|
|
NM_000340.2(SLC2A2):c.*1222T>A
|
rs55989805
|
0.21407
|
|
NM_000262.3(NAGA):c.598-15C>T
|
rs2854827
|
0.21339
|
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
|
NM_000404.4(GLB1):c.1233+8T>C
|
rs13093698
|
0.21250
|
|
NM_002863.5(PYGL):c.2016C>T (p.Thr672=)
|
rs15669
|
0.21064
|
|
NM_002076.4(GNS):c.*269C>T
|
rs2279597
|
0.21062
|
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
|
NM_000284.4(PDHA1):c.*1377G>A
|
rs56039350
|
0.20892
|
|
NM_005609.4(PYGM):c.243+48A>G
|
rs477549
|
0.20413
|
|
NM_005609.3(PYGM):c.-381T>C
|
rs483962
|
0.20383
|
|
NM_000152.5(GAA):c.1581G>A (p.Arg527=)
|
rs1042396
|
0.20175
|
|
NM_000340.2(SLC2A2):c.*1257C>T
|
rs55679742
|
0.20048
|
|
NM_002863.4(PYGL):c.-127A>G
|
rs67490748
|
0.20002
|
|
NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
|
NM_000512.5(GALNS):c.1483-32G>C
|
rs11076716
|
0.19802
|
|
NM_014026.6(DCPS):c.189C>T (p.Phe63=)
|
rs695029
|
0.19665
|
|
NM_000152.5(GAA):c.*419G>T
|
rs7567
|
0.19631
|
|
NM_003477.2(PDHX):c.-202A>G
|
rs113073242
|
0.19613
|
|
NM_015957.4(APIP):c.57+77C>T
|
rs16926448
|
0.19609
|
|
NM_003477.3(PDHX):c.108T>C (p.Ser36=)
|
rs1049307
|
0.19592
|
|
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)
|
rs1049306
|
0.19588
|
|
NM_175914.5(HNF4A):c.427-197A>C
|
rs11574739
|
0.19545
|
|
NM_175914.5(HNF4A):c.427-52G>A
|
rs3212195
|
0.19516
|
|
NM_000027.4(AGA):c.281+13T>G
|
rs34241758
|
0.19395
|
|
NM_000289.6(PFKM):c.639-85T>C
|
rs2286020
|
0.19143
|
|
NM_175914.5(HNF4A):c.320-204C>G
|
rs13041396
|
0.19053
|
|
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met)
|
rs2305777
|
0.19038
|
|
NM_175914.5(HNF4A):c.426+140C>G
|
rs11574738
|
0.19031
|
|
NM_000289.6(PFKM):c.516C>T (p.Thr172=)
|
rs1049392
|
0.18973
|
|
NM_000162.5(GCK):c.*332G>A
|
rs13306388
|
0.18894
|
|
NM_006859.4(LIAS):c.45+15G>A
|
rs2687959
|
0.18886
|
|
NM_001164277.2(SLC37A4):c.*418T>C
|
rs11006
|
0.18616
|
|
NM_021957.4(GYS2):c.942-17G>A
|
rs8192697
|
0.18537
|
|
NM_002299.4(LCT):c.5111+23C>T
|
rs3213890
|
0.18490
|
|
NM_003477.2(PDHX):c.-124G>C
|
rs375130125
|
0.18392
|
|
NM_005670.4(EPM2A):c.402G>A (p.Gly134=)
|
rs35230590
|
0.18342
|
|
NM_175914.5(HNF4A):c.50-5C>T
|
rs745975
|
0.17964
|
|
NM_000458.4(HNF1B):c.*384A>G
|
rs1058166
|
0.17933
|
|
NM_014806.5(RUSC2):c.3342-10C>T
|
rs2295842
|
0.17831
|
|
NM_002863.5(PYGL):c.*7G>C
|
rs1042266
|
0.17763
|
|
NM_001064.4(TKT):c.749-15G>A
|
rs17234092
|
0.17692
|
|
NM_002591.4(PCK1):c.282C>T (p.Ile94=)
|
rs6070157
|
0.17400
|
|
NM_016203.4(PRKAG2):c.467-12630G>T
|
rs1860746
|
0.17340
|
|
NM_000203.5(IDUA):c.1727+72T>G
|
rs2305488
|
0.17150
|
|
NM_000203.5(IDUA):c.1402+36T>C
|
rs115134980
|
0.17107
|
|
NM_000203.5(IDUA):c.972+48A>G
|
rs6811373
|
0.17097
|
|
NM_000203.5(IDUA):c.543T>C (p.Asn181=)
|
rs6815946
|
0.16952
|
|
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=)
|
rs11537641
|
0.16943
|
|
NM_000152.5(GAA):c.-260G>C
|
rs2304849
|
0.16933
|
|
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)
|
rs73066479
|
0.16867
|
|
NM_000203.5(IDUA):c.1467C>T (p.Arg489=)
|
rs115929690
|
0.16835
|
|
NM_000203.5(IDUA):c.942G>C (p.Ala314=)
|
rs6830825
|
0.16834
|
|
NM_012434.5(SLC17A5):c.819+52G>A
|
rs520589
|
0.16798
|
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
|
NM_012434.5(SLC17A5):c.819+79T>G
|
rs558839
|
0.16769
|
|
NM_000154.2(GALK1):c.1108-40C>T
|
rs743554
|
0.16712
|
|
NM_000207.3(INS):c.*9C>T
|
rs3842752
|
0.16663
|
|
NM_001739.2(CA5A):c.807A>T (p.Ala269=)
|
rs72816311
|
0.16645
|
|
NM_012434.5(SLC17A5):c.820-51C>G
|
rs611580
|
0.16614
|
|
NM_012434.5(SLC17A5):c.978+70G>A
|
rs610260
|
0.16613
|
|
NM_012434.5(SLC17A5):c.978+88C>T
|
rs474661
|
0.16611
|
|
NM_000152.5(GAA):c.642C>T (p.Ser214=)
|
rs1800301
|
0.16610
|
|
NM_000046.3(ARSB):c.-564A>G
|
rs59558132
|
0.16591
|
|
NM_000203.5(IDUA):c.1164G>C (p.Thr388=)
|
rs6836258
|
0.16540
|
|
NM_002863.5(PYGL):c.1020C>T (p.Asp340=)
|
rs2075643
|
0.16448
|
|
NM_000289.6(PFKM):c.2093-14A>G
|
rs11168427
|
0.16418
|
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
|
NM_000289.6(PFKM):c.-8-86G>T
|
rs2269935
|
0.16268
|
|
NM_001739.2(CA5A):c.453C>T (p.Pro151=)
|
rs7186698
|
0.16216
|
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
|
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=)
|
rs13181449
|
0.16076
|
|
NM_001164277.2(SLC37A4):c.-195-64C>T
|
rs56258965
|
0.15980
|
|
NM_000046.3(ARSB):c.-958A>G
|
rs57586329
|
0.15967
|
|
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=)
|
rs5404
|
0.15665
|
|
NM_000213.5(ITGB4):c.5054-15A>G
|
rs8078247
|
0.15459
|
|
NM_002299.4(LCT):c.4329C>T (p.Gly1443=)
|
rs3739022
|
0.15421
|
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
|
NM_175914.5(HNF4A):c.427-96C>G
|
rs3212194
|
0.15252
|
|
NM_000030.3(AGXT):c.942+127C>T
|
rs111576306
|
0.15015
|
|
NC_000003.12:g.171027104G>A
|
rs5394
|
0.15011
|
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
|
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)
|
rs1805036
|
0.14682
|
|
NM_000203.5(IDUA):c.1524+41G>T
|
rs188458034
|
0.14666
|
|
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys)
|
rs11552145
|
0.14626
|
|
NM_138413.4(HOGA1):c.469-25C>T
|
rs7078003
|
0.14530
|
|
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=)
|
rs3822434
|
0.14485
|
|
NM_001042351.2(G6PD):c.-111A>G
|
rs111827785
|
0.14433
|
|
NM_031229.4(RBCK1):c.261+15G>T
|
rs11698154
|
0.14404
|
|
NM_000343.4(SLC5A1):c.*2245C>T
|
rs9621386
|
0.14372
|
|
NM_016203.4(PRKAG2):c.-26C>T
|
rs66628686
|
0.14343
|
|
NM_006516.2(SLC2A1):c.-490G>C
|
rs3754226
|
0.14227
|
|
NM_012203.2(GRHPR):c.579= (p.Ala193=)
|
rs309458
|
0.14193
|
|
NM_000046.3(ARSB):c.-906C>G
|
rs62377914
|
0.14171
|
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
|
NM_000046.5(ARSB):c.691-22T>C
|
rs6870443
|
0.13972
|
|
NM_005327.7(HADH):c.-38T>C
|
rs17550794
|
0.13904
|
|
NM_000545.8(HNF1A):c.1545G>A (p.Thr515=)
|
rs55834942
|
0.13864
|
|
NM_000152.5(GAA):c.2331+24T>C
|
rs2304831
|
0.13841
|
|
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser)
|
rs3753494
|
0.13698
|
|
NM_000925.4(PDHB):c.935-146G>C
|
rs6445980
|
0.13601
|
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
|
NM_005327.7(HADH):c.257= (p.Leu86=)
|
rs4956145
|
0.13339
|
|
NM_138801.3(GALM):c.568A>T (p.Asn190Tyr)
|
rs6741892
|
0.13096
|
|
NM_175914.5(HNF4A):c.*392T>G
|
rs11086926
|
0.13032
|
|
NM_005566.4(LDHA):c.348C>A (p.Ile116=)
|
rs6498
|
0.12798
|
|
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=)
|
rs173135
|
0.12771
|
|
NM_003477.3(PDHX):c.-4C>G
|
rs3818401
|
0.12767
|
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
|
NM_000158.4(GBE1):c.-102C>T
|
rs78982329
|
0.12619
|
|
NM_000158.4(GBE1):c.143+10G>T
|
rs9820490
|
0.12510
|
|
NM_000293.3(PHKB):c.775-6G>C
|
rs56268318
|
0.12475
|
|
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)
|
rs1071598
|
0.12316
|
|
NM_000030.3(AGXT):c.847-83G>T
|
rs11894759
|
0.12217
|
|
NM_000152.5(GAA):c.*91G>A
|
rs2229221
|
0.12196
|
|
NM_001352514.2(HLCS):c.1275C>T (p.Ser425=)
|
rs1065758
|
0.11920
|
|
NM_000208.4(INSR):c.783C>T (p.Asp261=)
|
rs891087
|
0.11869
|
|
NM_022895.3(C12orf43):c.*1693C>T
|
rs41279096
|
0.11781
|
|
NM_175914.5(HNF4A):c.*2366G>C
|
rs3212211
|
0.11643
|
|
NM_000199.5(SGSH):c.89-45G>A
|
rs9900509
|
0.11554
|
|
NM_000147.4(FUCA1):c.-12T>C
|
rs2070954
|
0.11405
|
|
NM_000152.5(GAA):c.921A>T (p.Ala307=)
|
rs1800303
|
0.11304
|
|
NM_000199.5(SGSH):c.89-39G>A
|
rs9900502
|
0.11282
|
|
NM_017755.6(NSUN2):c.*99G>A
|
rs3776448
|
0.11157
|
|
NM_000404.4(GLB1):c.76-4426C>T
|
rs9865342
|
0.11155
|
|
NM_001164277.2(SLC37A4):c.626+19C>T
|
rs741811
|
0.11102
|
|
NM_003619.4(PRSS12):c.*1504G>A
|
rs1045817
|
0.11039
|
|
NM_000152.5(GAA):c.*139dup
|
rs865903736
|
0.10981
|
|
NM_000108.5(DLD):c.*28G>T
|
rs17154615
|
0.10964
|
|
NM_005609.4(PYGM):c.2313-47T>C
|
rs569602
|
0.10954
|
|
NM_198586.3(NHLRC1):c.312T>C (p.His104=)
|
rs115931931
|
0.10897
|
|
NM_000507.4(FBP1):c.-194C>T
|
rs2296707
|
0.10821
|
|
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=)
|
rs472294
|
0.10691
|
|
NM_001160372.4(TRAPPC9):c.2431+7G>A
|
rs11166964
|
0.10663
|
|
NM_000404.4(GLB1):c.458-11T>C
|
rs34204221
|
0.10591
|
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
|
NM_000147.4(FUCA1):c.-86T>G
|
rs2070953
|
0.10497
|
|
NM_003477.3(PDHX):c.798T>C (p.Pro266=)
|
rs61760973
|
0.10477
|
|
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)
|
rs1061361
|
0.10447
|
|
NM_001360016.2(G6PD):c.121-135A>G
|
rs762515
|
0.10367
|
|
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr)
|
rs11669628
|
0.10133
|
|
NM_001041.4(SI):c.4026A>G (p.Thr1342=)
|
rs74648160
|
0.10127
|
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
|
NM_000152.5(GAA):c.1374C>T (p.Tyr458=)
|
rs1800305
|
0.10079
|
|
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp)
|
rs2070955
|
0.10031
|
|
NM_005908.4(MANBA):c.315G>A (p.Thr105=)
|
rs6857760
|
0.10011
|
|
NM_015028.4(TNIK):c.2682C>T (p.Ser894=)
|
rs16855789
|
0.09929
|
|
NM_002294.3(LAMP2):c.*1314T>C
|
rs5957381
|
0.09876
|
|
NM_000046.5(ARSB):c.*3181T>G
|
rs11750774
|
0.09828
|
|
NM_000891.3(KCNJ2):c.*1069C>T
|
rs45603434
|
0.09819
|
|
NM_002294.3(LAMP2):c.*297A>C
|
rs8160
|
0.09815
|
|
NM_002294.3(LAMP2):c.*3248G>A
|
rs5957380
|
0.09812
|
|
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)
|
rs1800200
|
0.09809
|
|
NM_000175.5(GPI):c.762G>A (p.Lys254=)
|
rs1864139
|
0.09803
|
|
NM_002294.3(LAMP2):c.*4671C>T
|
rs1045953
|
0.09801
|
|
NM_002103.5(GYS1):c.-182T>G
|
rs2287755
|
0.09792
|
|
NM_002294.3(LAMP2):c.*486A>G
|
rs5957383
|
0.09784
|
|
NM_002863.5(PYGL):c.664G>A (p.Val222Ile)
|
rs946616
|
0.09756
|
|
NM_002294.3(LAMP2):c.*2395A>G
|
rs10127185
|
0.09686
|
|
NM_001360016.2(G6PD):c.864+163C>T
|
rs5986990
|
0.09646
|
|
NM_002294.3(LAMP2):c.*2261A>G
|
rs12395643
|
0.09416
|
|
NM_002591.4(PCK1):c.799A>G (p.Ile267Val)
|
rs8192708
|
0.09315
|
|
NM_000158.4(GBE1):c.579G>A (p.Lys193=)
|
rs17019144
|
0.09257
|
|
NM_002076.4(GNS):c.363G>A (p.Lys121=)
|
rs2230291
|
0.09139
|
|
NM_138413.4(HOGA1):c.469-31C>T
|
rs75929214
|
0.09102
|
|
NM_000152.5(GAA):c.693-49C>T
|
rs78855075
|
0.09045
|
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
|
NM_005609.4(PYGM):c.1768+51C>T
|
rs686171
|
0.08974
|
|
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)
|
rs35836657
|
0.08930
|
|
NM_002103.5(GYS1):c.*725C>T
|
rs1042265
|
0.08927
|
|
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg)
|
rs35927125
|
0.08880
|
|
NM_000158.4(GBE1):c.342C>T (p.Tyr114=)
|
rs13320194
|
0.08854
|
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
|
NM_000365.6(TPI1):c.*420T>C
|
rs58194764
|
0.08694
|
|
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
|
NM_198586.3(NHLRC1):c.*621T>A
|
rs10949481
|
0.08640
|
|
NM_002294.3(LAMP2):c.*2460A>G
|
rs10127182
|
0.08629
|
|
NM_003384.3(VRK1):c.1159+43C>G
|
rs45457797
|
0.08564
|
|
NM_002294.3(LAMP2):c.*2195T>C
|
rs13441024
|
0.08473
|
|
NM_003597.5(KLF11):c.*544C>A
|
rs4444493
|
0.08457
|
|
NM_002591.4(PCK1):c.*431T>C
|
rs28359554
|
0.08366
|
|
NM_000458.4(HNF1B):c.1654-106C>T
|
rs8066605
|
0.08136
|
|
NM_005327.7(HADH):c.*109T>A
|
rs221347
|
0.07950
|
|
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)
|
rs9894254
|
0.07931
|
|
NM_003597.5(KLF11):c.*435A>T
|
rs72786612
|
0.07883
|
|
NM_000199.5(SGSH):c.*833A>G
|
rs2012452
|
0.07846
|
|
NM_000035.4(ALDOB):c.*505C>A
|
rs17772845
|
0.07844
|
|
NM_000035.4(ALDOB):c.*897G>A
|
rs17772839
|
0.07843
|
|
NM_000035.4(ALDOB):c.*552T>A
|
rs41308902
|
0.07841
|
|
NM_000035.4(ALDOB):c.*612A>G
|
rs41296049
|
0.07833
|
|
NM_175914.5(HNF4A):c.670+196G>A
|
rs11086925
|
0.07736
|
|
NM_001366110.1(PAX4):c.*402T>C
|
rs327519
|
0.07655
|
|
NM_002103.5(GYS1):c.-125C>T
|
rs2287754
|
0.07560
|
|
NM_175914.5(HNF4A):c.1217-151A>C
|
rs74173201
|
0.07406
|
|
NM_000207.3(INS):c.-18+4_-18+5insTTGC
|
rs3842740
|
0.07357
|
|
NM_000035.4(ALDOB):c.*206C>A
|
rs17772869
|
0.07315
|
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
|
NM_000404.4(GLB1):c.734-112T>C
|
rs80059915
|
0.07289
|
|
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)
|
rs34544747
|
0.07202
|
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
|
NM_002863.5(PYGL):c.153C>T (p.Asp51=)
|
rs77316189
|
0.07133
|
|
NM_000891.3(KCNJ2):c.*624G>A
|
rs9302915
|
0.07098
|
|
NM_000046.3(ARSB):c.*3195A>G
|
rs16875887
|
0.07068
|
|
NM_000925.4(PDHB):c.701-41G>A
|
rs4585221
|
0.06991
|
|
NM_198586.3(NHLRC1):c.*336G>A
|
rs10949482
|
0.06918
|
|
NM_000485.2(APRT):c.-50C>A
|
rs8191469
|
0.06915
|
|
NM_000404.4(GLB1):c.1561= (p.Cys521=)
|
rs4302331
|
0.06888
|
|
NM_000891.3(KCNJ2):c.*558C>T
|
rs9302914
|
0.06842
|
|
NM_002294.3(LAMP2):c.*1096T>C
|
rs5957382
|
0.06824
|
|
NM_000891.3(KCNJ2):c.*136G>A
|
rs73998781
|
0.06798
|
|
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)
|
rs7221086
|
0.06793
|
|
NM_000891.3(KCNJ2):c.*1198A>G
|
rs9895478
|
0.06787
|
|
NM_000891.3(KCNJ2):c.*1251C>T
|
rs9894661
|
0.06785
|
|
NM_000891.3(KCNJ2):c.*1266C>T
|
rs9894677
|
0.06783
|
|
NM_033159.4(HYAL1):c.*492C>T
|
rs1283
|
0.06762
|
|
NM_000891.3(KCNJ2):c.*832G>A
|
rs10083831
|
0.06743
|
|
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)
|
rs2228389
|
0.06703
|
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
|
NM_001352514.2(HLCS):c.*259T>C
|
rs73398122
|
0.06633
|
|
NM_001931.5(DLAT):c.975+16G>T
|
rs539991
|
0.06626
|
|
NM_000046.5(ARSB):c.*1469C>T
|
rs55710452
|
0.06599
|
|
NM_003619.4(PRSS12):c.*807G>A
|
rs17516164
|
0.06563
|
|
NM_006516.4(SLC2A1):c.966C>T (p.Val322=)
|
rs2229680
|
0.06553
|
|
NM_000162.5(GCK):c.-84C>G
|
rs13306391
|
0.06548
|
|
NM_002076.4(GNS):c.*942A>G
|
rs12309081
|
0.06453
|
|
NM_002076.4(GNS):c.*411G>A
|
rs11175525
|
0.06452
|
|
NM_000152.5(GAA):c.2040+66C>T
|
rs2304835
|
0.06422
|
|
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His)
|
rs3208406
|
0.06407
|
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
|
NM_000284.4(PDHA1):c.*614G>T
|
rs5955761
|
0.06313
|
|
NC_000008.11:g.11573132C>T
|
rs61199332
|
0.06287
|
|
NM_006488.3(KHK):c.-449T>G
|
rs116028777
|
0.06231
|
|
NM_006488.3(KHK):c.-444C>A
|
rs116365550
|
0.06226
|
|
NM_006488.3(KHK):c.210-328A>G
|
rs74537742
|
0.06212
|
|
NM_000289.6(PFKM):c.427+52G>A
|
rs41291961
|
0.06210
|
|
NM_000458.4(HNF1B):c.1534+252G>C
|
rs72830475
|
0.06206
|
|
NM_000289.5(PFKM):c.-171C>A
|
rs41291959
|
0.06201
|
|
NM_000289.6(PFKM):c.246G>A (p.Thr82=)
|
rs2228501
|
0.06196
|
|
NM_000162.5(GCK):c.*477C>T
|
rs2908275
|
0.06179
|
|
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr)
|
rs17857452
|
0.06173
|
|
NM_000289.6(PFKM):c.1880+32G>C
|
rs4075914
|
0.06152
|
|
NM_000158.4(GBE1):c.*152C>A
|
rs9820089
|
0.06146
|
|
NM_000152.5(GAA):c.2040+69A>G
|
rs2304834
|
0.06120
|
|
NM_000108.5(DLD):c.684+7G>A
|
rs75123588
|
0.06110
|
|
NM_000458.4(HNF1B):c.344+256G>C
|
rs111950175
|
0.06108
|
|
NM_198586.3(NHLRC1):c.*626C>T
|
rs10949480
|
0.06100
|
|
NM_000458.4(HNF1B):c.344+228G>C
|
rs113656333
|
0.06093
|
|
NM_000263.3(NAGLU):c.-138A>G
|
rs76407245
|
0.06051
|
|
NM_000458.4(HNF1B):c.345-228C>G
|
rs75979306
|
0.06037
|
|
NM_000925.3(PDHB):c.*407_*408delAA
|
rs35161513
|
0.06029
|
|
NM_000284.4(PDHA1):c.*1598G>C
|
rs11094770
|
0.06012
|
|
NM_022895.3(C12orf43):c.*2358C>T
|
rs11065390
|
0.05950
|
|
NM_001041.4(SI):c.4842-4C>T
|
rs78032315
|
0.05892
|
|
NM_000262.3(NAGA):c.*1035G>A
|
rs62238588
|
0.05880
|
|
NM_000262.3(NAGA):c.957+4C>G
|
rs55715427
|
0.05864
|
|
NM_000485.3(APRT):c.*3A>G
|
rs2070256
|
0.05786
|
|
NM_000152.5(GAA):c.2446G>A (p.Val816Ile)
|
rs1800314
|
0.05752
|
|
NM_000152.5(GAA):c.1636+43G>T
|
rs2304842
|
0.05728
|
|
NM_001041.4(SI):c.4779T>C (p.Phe1593=)
|
rs78428100
|
0.05635
|
|
NM_001366110.1(PAX4):c.543A>G (p.Gln181=)
|
rs327517
|
0.05634
|
|
NM_006859.4(LIAS):c.507A>G (p.Glu169=)
|
rs35086467
|
0.05609
|
|
NM_016302.4(CRBN):c.735T>C (p.Tyr245=)
|
rs17027638
|
0.05605
|
|
NM_000308.4(CTSA):c.219C>G (p.Pro73=)
|
rs742035
|
0.05580
|
|
NM_000152.5(GAA):c.*3G>A
|
rs1800317
|
0.05534
|
|
NM_012434.5(SLC17A5):c.979-33G>A
|
rs12199937
|
0.05489
|
|
NM_000046.5(ARSB):c.972A>G (p.Gly324=)
|
rs72762973
|
0.05483
|
|
NM_012434.5(SLC17A5):c.*193A>G
|
rs3734517
|
0.05453
|
|
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=)
|
rs61737536
|
0.05436
|
|
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg)
|
rs2230307
|
0.05399
|
|
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)
|
rs3757112
|
0.05389
|
|
NM_012434.5(SLC17A5):c.292-22T>C
|
rs12206001
|
0.05386
|
|
NM_000035.4(ALDOB):c.*122G>A
|
rs41310087
|
0.05383
|
|
NM_000404.4(GLB1):c.734-80G>A
|
rs75639377
|
0.05351
|
|
NM_000642.3(AGL):c.3700+32T>C
|
rs834575
|
0.05338
|
|
NM_000152.5(GAA):c.1888+21G>A
|
rs2304837
|
0.05276
|
|
NM_001041.4(SI):c.5405C>G (p.Thr1802Ser)
|
rs9917722
|
0.05238
|
|
NM_001041.4(SI):c.5197+8C>T
|
rs6799858
|
0.05235
|
|
NM_002299.4(LCT):c.1650C>G (p.Gly550=)
|
rs35093754
|
0.05209
|
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
|
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)
|
rs73826339
|
0.05158
|
|
NM_003477.3(PDHX):c.*173G>A
|
rs75863418
|
0.05112
|
|
NM_003477.3(PDHX):c.*200T>C
|
rs16926653
|
0.05109
|
|
NM_003477.3(PDHX):c.339C>T (p.Ile113=)
|
rs34582941
|
0.05105
|
|
NM_000512.5(GALNS):c.898+42G>C
|
rs76095307
|
0.05085
|
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
|
NM_000046.5(ARSB):c.1362G>A (p.Pro454=)
|
rs35757003
|
0.04998
|
|
NM_003477.3(PDHX):c.241+3G>A
|
rs78878052
|
0.04995
|
|
NM_003477.3(PDHX):c.*890T>C
|
rs1049333
|
0.04989
|
|
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=)
|
rs71646895
|
0.04951
|
|
NM_016203.4(PRKAG2):c.114+12C>T
|
rs77902041
|
0.04935
|
|
NM_000512.5(GALNS):c.758+22C>T
|
rs78317153
|
0.04917
|
|
NM_006516.4(SLC2A1):c.*1213G>T
|
rs55728431
|
0.04893
|
|
NM_000203.5(IDUA):c.891C>T (p.Asn297=)
|
rs114806891
|
0.04874
|
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
|
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro)
|
rs200975594
|
0.04768
|
|
NM_001041.4(SI):c.*426G>A
|
rs111300332
|
0.04763
|
|
NM_000343.4(SLC5A1):c.1845C>G (p.His615Gln)
|
rs33954001
|
0.04760
|
|
NM_153281.2(HYAL1):c.-132G>A
|
rs12488302
|
0.04741
|
|
NM_000891.3(KCNJ2):c.*2752T>C
|
rs993085233
|
0.04719
|
|
NM_002076.4(GNS):c.*3068_*3069dup
|
rs397946778
|
0.04705
|
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
|
NM_001360016.2(G6PD):c.486-60C>G
|
rs2515904
|
0.04673
|
|
NM_000203.5(IDUA):c.1727+75G>T
|
rs2305489
|
0.04671
|
|
NM_001352514.2(HLCS):c.*521C>T
|
rs9967991
|
0.04663
|
|
NM_000512.5(GALNS):c.*524G>C
|
rs3759946
|
0.04660
|
|
NM_001715.3(BLK):c.*92G>C
|
rs14053
|
0.04621
|
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
|
NM_000155.4(GALT):c.507+62G>A
|
rs2277202
|
0.04610
|
|
NM_002863.5(PYGL):c.93T>C (p.Ser31=)
|
rs17123244
|
0.04608
|
|
NM_152419.3(HGSNAT):c.*1216G>A
|
rs73569597
|
0.04598
|
|
NM_024989.4(PGAP1):c.1862-3C>T
|
rs73988069
|
0.04584
|
|
NM_000343.4(SLC5A1):c.1275C>T (p.Ala425=)
|
rs17683448
|
0.04560
|
|
NM_000343.4(SLC5A1):c.1938C>T (p.Asn646=)
|
rs33954397
|
0.04560
|
|
NM_000343.4(SLC5A1):c.1231G>A (p.Ala411Thr)
|
rs17683430
|
0.04557
|
|
NM_000343.4(SLC5A1):c.152A>G (p.Asn51Ser)
|
rs17683011
|
0.04555
|
|
NM_000343.4(SLC5A1):c.1836A>G (p.Leu612=)
|
rs17683704
|
0.04554
|
|
NM_000512.5(GALNS):c.898+25C>G
|
rs113936280
|
0.04554
|
|
NM_000891.3(KCNJ2):c.*2758T>C
|
rs1324652195
|
0.04554
|
|
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=)
|
rs2228490
|
0.04552
|
|
NM_152419.3(HGSNAT):c.*1780C>T
|
rs1058608
|
0.04517
|
|
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)
|
rs11553595
|
0.04510
|
|
NM_000512.5(GALNS):c.599C>T (p.Thr200Met)
|
rs7187889
|
0.04495
|
|
NM_000199.5(SGSH):c.746-4A>G
|
rs7218267
|
0.04487
|
|
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)
|
rs34123220
|
0.04470
|
|
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg)
|
rs116482870
|
0.04448
|
|
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)
|
rs1800315
|
0.04402
|
|
NM_000642.3(AGL):c.686A>G (p.Gln229Arg)
|
rs17121403
|
0.04398
|
|
NM_005908.4(MANBA):c.*356G>A
|
rs7672268
|
0.04355
|
|
NM_000108.5(DLD):c.1351C>T (p.Leu451=)
|
rs1803921
|
0.04354
|
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
|
NM_002591.4(PCK1):c.873C>T (p.Thr291=)
|
rs28359547
|
0.04342
|
|
NM_000507.4(FBP1):c.276G>T (p.Thr92=)
|
rs16910744
|
0.04339
|
|
NM_005908.4(MANBA):c.831A>G (p.Leu277=)
|
rs17033168
|
0.04331
|
|
NM_002076.4(GNS):c.*1990A>G
|
rs17100600
|
0.04306
|
|
NM_002076.4(GNS):c.*566A>G
|
rs17100604
|
0.04303
|
|
NM_000343.4(SLC5A1):c.1899G>A (p.Thr633=)
|
rs33943816
|
0.04197
|
|
NM_000152.5(GAA):c.1754+104C>G
|
rs2304839
|
0.04194
|
|
NM_005327.7(HADH):c.636+13G>A
|
rs17511214
|
0.04139
|
|
NM_000045.4(ARG1):c.270C>T (p.Asn90=)
|
rs34504481
|
0.04124
|
|
NM_175914.5(HNF4A):c.*305A>G
|
rs56343153
|
0.04078
|
|
NM_175914.5(HNF4A):c.*242T>C
|
rs41282030
|
0.04068
|
|
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile)
|
rs61732502
|
0.04059
|
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
|
NM_000152.5(GAA):c.2189+95C>T
|
rs72850840
|
0.04030
|
|
NM_004130.4(GYG1):c.114C>T (p.Leu38=)
|
rs61733452
|
0.04021
|
|
NM_001008216.2(GALE):c.-77+311C>T
|
rs113324056
|
0.03995
|
|
NM_005327.4(HADH):c.*818A>G
|
rs17511319
|
0.03973
|
|
NM_006488.3(KHK):c.*580T>C
|
rs7573066
|
0.03950
|
|
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn)
|
rs25414
|
0.03947
|
|
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp)
|
rs61732504
|
0.03941
|
|
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=)
|
rs28763998
|
0.03936
|
|
NM_000154.2(GALK1):c.189G>A (p.Leu63=)
|
rs7211385
|
0.03914
|
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
|
NM_000151.4(G6PC1):c.*877T>C
|
rs72826982
|
0.03829
|
|
NM_017755.6(NSUN2):c.622+7A>T
|
rs16877704
|
0.03788
|
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
|
NM_175914.5(HNF4A):c.50-4538G>A
|
rs113725562
|
0.03716
|
|
NM_175914.5(HNF4A):c.135C>T (p.Ala45=)
|
rs736823
|
0.03705
|
|
NM_000891.3(KCNJ2):c.*2753T>C
|
rs1391769255
|
0.03695
|
|
NM_002076.4(GNS):c.1650T>C (p.His550=)
|
rs2230292
|
0.03695
|
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
|
NM_000046.5(ARSB):c.*60G>A
|
rs2173012
|
0.03683
|
|
NM_006488.3(KHK):c.-324C>T
|
rs114973335
|
0.03642
|
|
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
|
NM_000181.3(GUSB):c.-72G>T
|
rs2279904
|
0.03621
|
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
|
NM_000284.4(PDHA1):c.-88G>A
|
rs5955751
|
0.03606
|
|
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)
|
rs11231865
|
0.03592
|
|
NM_000891.3(KCNJ2):c.*2759T>C
|
rs906331617
|
0.03578
|
|
NM_012203.2(GRHPR):c.*146A>G
|
rs1057507
|
0.03576
|
|
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
|
NM_002300.8(LDHB):c.-81G>C
|
rs74069329
|
0.03540
|
|
NM_000434.4(NEU1):c.-40T>G
|
rs41267082
|
0.03529
|
|
NM_152419.3(HGSNAT):c.*1231G>A
|
rs61743005
|
0.03511
|
|
NM_001159287.1(TPI1):c.66G>A (p.Pro22=)
|
rs1800201
|
0.03488
|
|
NM_001352514.2(HLCS):c.1960+16T>A
|
rs73398135
|
0.03462
|
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
|
NM_138413.4(HOGA1):c.*360C>T
|
rs114372258
|
0.03441
|
|
NM_000199.5(SGSH):c.664-50G>A
|
rs117217614
|
0.03422
|
|
NM_002294.3(LAMP2):c.*1071G>T
|
rs2285548
|
0.03391
|
|
NM_001360016.2(G6PD):c.1116G>A (p.Gln372=)
|
rs2230036
|
0.03373
|
|
NM_001739.2(CA5A):c.138C>A (p.Asn46Lys)
|
rs74041853
|
0.03363
|
|
NM_000035.4(ALDOB):c.-10-209A>G
|
rs113443424
|
0.03318
|
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
|
NM_001040716.2(PC):c.2224-9T>G
|
rs45560936
|
0.03311
|
|
NM_001366110.1(PAX4):c.*492G>A
|
rs405576
|
0.03297
|
|
NM_000046.5(ARSB):c.*202A>G
|
rs73770019
|
0.03289
|
|
NM_000284.4(PDHA1):c.604-15C>T
|
rs13440874
|
0.03269
|
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
|
NM_002299.4(LCT):c.4977-26T>C
|
rs3213891
|
0.03191
|
|
NM_002294.3(LAMP2):c.*1589A>G
|
rs73612906
|
0.03180
|
|
NM_000203.5(IDUA):c.300-44C>T
|
rs3755956
|
0.03133
|
|
NM_001323543.1(GALNS):c.-523T>C
|
rs116702472
|
0.03132
|
|
NM_006721.4(ADK):c.705T>C (p.Asp235=)
|
rs16931480
|
0.03126
|
|
NM_000262.3(NAGA):c.*143C>T
|
rs17002832
|
0.03106
|
|
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)
|
rs374991345
|
0.03070
|
|
NM_005908.4(MANBA):c.*317A>G
|
rs78514870
|
0.03053
|
|
NM_031229.4(RBCK1):c.144G>A (p.Glu48=)
|
rs41281892
|
0.03013
|
|
NM_000292.3(PHKA2):c.2361-12A>C
|
rs148877451
|
0.02944
|
|
NM_000290.4(PGAM2):c.324G>A (p.Gly108=)
|
rs112828964
|
0.02943
|
|
NM_000458.4(HNF1B):c.*777G>A
|
rs17138512
|
0.02929
|
|
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=)
|
rs118117962
|
0.02913
|
|
NM_000458.4(HNF1B):c.*47T>G
|
rs8068014
|
0.02908
|
|
NM_003597.5(KLF11):c.*1781T>C
|
rs6722205
|
0.02856
|
|
NM_000262.3(NAGA):c.*1814C>T
|
rs80313011
|
0.02824
|
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
|
NM_053013.4(ENO3):c.1236-17C>T
|
rs77614413
|
0.02756
|
|
NM_053013.4(ENO3):c.240+17G>A
|
rs75279666
|
0.02755
|
|
NM_000411.8(HLCS):c.-393+11G>T
|
rs557368288
|
0.02745
|
|
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile)
|
rs1804160
|
0.02728
|
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
|
NM_002591.4(PCK1):c.705C>T (p.Tyr235=)
|
rs28359544
|
0.02719
|
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
|
NM_002637.4(PHKA1):c.429C>T (p.Leu143=)
|
rs138066694
|
0.02710
|
|
NM_006765.4(TUSC3):c.912G>A (p.Ser304=)
|
rs17121892
|
0.02710
|
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
|
NM_000340.2(SLC2A2):c.*234C>A
|
rs79424762
|
0.02686
|
|
NM_001931.5(DLAT):c.693C>T (p.Thr231=)
|
rs34680691
|
0.02685
|
|
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp)
|
rs2233578
|
0.02654
|
|
NM_000343.4(SLC5A1):c.*902T>G
|
rs16989883
|
0.02647
|
|
NM_003477.3(PDHX):c.641+4T>C
|
rs2767035
|
0.02645
|
|
NM_000365.6(TPI1):c.544-10C>G
|
rs115061797
|
0.02638
|
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
|
NM_006859.4(LIAS):c.737+13A>T
|
rs79572060
|
0.02580
|
|
NM_006859.4(LIAS):c.306C>A (p.Leu102=)
|
rs61731032
|
0.02579
|
|
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)
|
rs77696629
|
0.02562
|
|
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=)
|
rs35880640
|
0.02554
|
|
NM_021957.4(GYS2):c.2067C>T (p.His689=)
|
rs7954038
|
0.02548
|
|
NM_021957.4(GYS2):c.1464A>G (p.Leu488=)
|
rs35403985
|
0.02543
|
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
|
NM_000262.3(NAGA):c.*12A>C
|
rs2229547
|
0.02530
|
|
NM_000545.8(HNF1A):c.1501+68A>G
|
rs55919842
|
0.02520
|
|
NM_000151.4(G6PC1):c.*727T>C
|
rs80193931
|
0.02511
|
|
NM_138413.4(HOGA1):c.-279G>A
|
rs41309988
|
0.02511
|
|
NM_002294.3(LAMP2):c.*205C>T
|
rs41300191
|
0.02502
|
|
NM_152419.3(HGSNAT):c.*585T>C
|
rs73675470
|
0.02497
|
|
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)
|
rs73675469
|
0.02491
|
|
NM_000152.5(GAA):c.-178G>A
|
rs77514632
|
0.02487
|
|
NM_000046.4(ARSB):c.-265G>A
|
rs72764913
|
0.02482
|
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
|
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile)
|
rs1800961
|
0.02469
|
|
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)
|
rs58786455
|
0.02463
|
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
|
NM_000199.5(SGSH):c.249+52G>A
|
rs113672699
|
0.02447
|
|
NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)
|
rs61756062
|
0.02444
|
|
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)
|
rs11539201
|
0.02438
|
|
NM_000152.5(GAA):c.-338C>G
|
rs144639114
|
0.02435
|
|
NM_001160372.4(TRAPPC9):c.3279+4C>T
|
rs79877357
|
0.02434
|
|
NM_001360016.2(G6PD):c.1431C>T (p.Pro477=)
|
rs77214077
|
0.02424
|
|
NM_001739.2(CA5A):c.135T>A (p.Asn45Lys)
|
rs77325391
|
0.02424
|
|
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala)
|
rs34712643
|
0.02415
|
|
NM_000181.4(GUSB):c.*172A>G
|
rs77293332
|
0.02406
|
|
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)
|
rs161628
|
0.02402
|
|
NM_005908.4(MANBA):c.1482G>T (p.Leu494=)
|
rs74718667
|
0.02371
|
|
NM_017950.4(CCDC40):c.*654A>C
|
rs2289538
|
0.02366
|
|
NM_000891.3(KCNJ2):c.*1596A>C
|
rs117409545
|
0.02347
|
|
NM_000365.6(TPI1):c.631+13G>A
|
rs60115912
|
0.02344
|
|
NM_024989.4(PGAP1):c.534T>G (p.Leu178=)
|
rs35444896
|
0.02335
|
|
NM_003477.3(PDHX):c.507C>T (p.Ile169=)
|
rs79170416
|
0.02292
|
|
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp)
|
rs181415619
|
0.02251
|
|
NM_000891.3(KCNJ2):c.-163_-162insTC
|
rs61077847
|
0.02248
|
|
NM_000891.3(KCNJ2):c.-162_-161insGAGTAGT
|
rs58144126
|
0.02246
|
|
NM_000891.3(KCNJ2):c.*2754T>C
|
rs9915769
|
0.02225
|
|
NM_175914.5(HNF4A):c.*700T>C
|
rs114764820
|
0.02223
|
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
|
NM_006488.3(KHK):c.*754T>C
|
rs73921452
|
0.02190
|
|
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile)
|
rs116605521
|
0.02188
|
|
NM_005327.4(HADH):c.-71C>T
|
rs760202
|
0.02185
|
|
NM_000284.4(PDHA1):c.*392G>A
|
rs56318063
|
0.02182
|
|
NM_005327.4(HADH):c.-193G>A
|
rs10017687
|
0.02168
|
|
NM_000512.5(GALNS):c.*296A>G
|
rs79507351
|
0.02153
|
|
NM_000030.2(AGXT):c.-46G>A
|
rs73106672
|
0.02150
|
|
NM_015028.4(TNIK):c.3012C>T (p.Ser1004=)
|
rs61736291
|
0.02140
|
|
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu)
|
rs16924002
|
0.02117
|
|
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr)
|
rs61737294
|
0.02098
|
|
NM_002863.5(PYGL):c.772+16G>T
|
rs17123173
|
0.02096
|
|
NM_006488.3(KHK):c.*806G>A
|
rs113859516
|
0.02073
|
|
NM_000175.5(GPI):c.122+20G>A
|
rs8191360
|
0.02067
|
|
NM_000545.8(HNF1A):c.293C>T (p.Ala98Val)
|
rs1800574
|
0.02065
|
|
NM_021957.4(GYS2):c.1965G>C (p.Gln655His)
|
rs117639846
|
0.02061
|
|
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln)
|
rs17313469
|
0.02052
|
|
NM_001715.3(BLK):c.258G>A (p.Gln86=)
|
rs56185487
|
0.02041
|
|
NM_000528.4(MAN2B1):c.2267+3G>C
|
rs28639634
|
0.02031
|
|
NM_000289.6(PFKM):c.1500+32C>T
|
rs41291967
|
0.02028
|
|
NM_001352514.2(HLCS):c.*40A>G
|
rs77014096
|
0.02028
|
|
NM_175914.5(HNF4A):c.*1832G>A
|
rs4812832
|
0.02019
|
|
NM_001352514.2(HLCS):c.2361C>T (p.Val787=)
|
rs61732507
|
0.02015
|
|
NM_016219.5(MAN1B1):c.*157C>G
|
rs61545361
|
0.02001
|
|
NM_000289.6(PFKM):c.237+73G>T
|
rs78042191
|
0.01997
|
|
NM_000289.6(PFKM):c.1342-14G>T
|
rs56117548
|
0.01990
|
|
NM_000458.4(HNF1B):c.1340-97G>A
|
rs77297671
|
0.01990
|
|
NM_017755.6(NSUN2):c.1602-17_1602-15del
|
rs139131959
|
0.01987
|
|
NM_053013.3(ENO3):c.-88G>A
|
rs73343373
|
0.01987
|
|
NM_001041.4(SI):c.4841+9A>G
|
rs114438312
|
0.01984
|
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
|
NM_000485.3(APRT):c.97C>T (p.Leu33=)
|
rs8191473
|
0.01977
|
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
|
NM_000642.3(AGL):c.3588+36T>G
|
rs548255
|
0.01966
|
|
NM_002300.8(LDHB):c.879A>G (p.Pro293=)
|
rs4828
|
0.01958
|
|
NM_000154.2(GALK1):c.611+34G>A
|
rs76743658
|
0.01955
|
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
|
NM_001352514.2(HLCS):c.*1484A>G
|
rs78926199
|
0.01946
|
|
NM_001352514.2(HLCS):c.*547C>T
|
rs116526486
|
0.01940
|
|
NM_006755.2(TALDO1):c.*9T>C
|
rs7939103
|
0.01931
|
|
NM_006755.1(TALDO1):c.*192G>A
|
rs7933290
|
0.01926
|
|
NM_000485.3(APRT):c.*47T>C
|
rs8191497
|
0.01906
|
|
NM_000208.4(INSR):c.2643C>T (p.Ile881=)
|
rs2229432
|
0.01903
|
|
NM_000642.3(AGL):c.1185+15T>C
|
rs17121466
|
0.01894
|
|
NM_000162.5(GCK):c.*797C>T
|
rs2908276
|
0.01885
|
|
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu)
|
rs61744585
|
0.01884
|
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
|
NM_001041.4(SI):c.4044G>A (p.Thr1348=)
|
rs75253993
|
0.01823
|
|
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala)
|
rs61741237
|
0.01800
|
|
NM_002294.3(LAMP2):c.*2524T>C
|
rs150119198
|
0.01799
|
|
NM_002591.4(PCK1):c.611-16G>A
|
rs75308972
|
0.01788
|
|
NM_000181.4(GUSB):c.-12G>A
|
rs2279903
|
0.01784
|
|
NM_003477.3(PDHX):c.531C>T (p.Pro177=)
|
rs76486106
|
0.01781
|
|
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)
|
rs71581787
|
0.01778
|
|
NM_017950.4(CCDC40):c.*265C>T
|
rs74000393
|
0.01774
|
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
|
NM_000891.3(KCNJ2):c.*3496T>C
|
rs3815307
|
0.01760
|
|
NM_001008216.2(GALE):c.709+14C>G
|
rs6692104
|
0.01759
|
|
NM_002299.4(LCT):c.2714A>G (p.Asp905Gly)
|
rs115690016
|
0.01755
|
|
NM_003477.3(PDHX):c.438C>T (p.Asp146=)
|
rs75182779
|
0.01749
|
|
NM_003477.3(PDHX):c.*123A>G
|
rs59918794
|
0.01748
|
|
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)
|
rs78558135
|
0.01732
|
|
NM_001370658.1(BTD):c.-94C>T
|
rs114567021
|
0.01730
|
|
NM_002076.4(GNS):c.*1456C>T
|
rs144199387
|
0.01725
|
|
NM_000208.4(INSR):c.653-7del
|
rs766817873
|
0.01724
|
|
NM_000512.5(GALNS):c.240G>A (p.Ser80=)
|
rs11865929
|
0.01724
|
|
NM_003051.4(SLC16A1):c.*145T>G
|
rs11585690
|
0.01723
|
|
NM_001807.6(CEL):c.353T>G (p.Leu118Arg)
|
rs113056079
|
0.01720
|
|
NM_001041.4(SI):c.483+4C>T
|
rs13086543
|
0.01717
|
|
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)
|
rs34871377
|
0.01714
|
|
NM_017755.6(NSUN2):c.21T>C (p.Gly7=)
|
rs184594943
|
0.01714
|
|
NM_000188.3(HK1):c.1031+6T>C
|
rs57012387
|
0.01704
|
|
NM_175914.5(HNF4A):c.*2533G>A
|
rs76705771
|
0.01679
|
|
NM_001739.2(CA5A):c.645C>T (p.Phe215=)
|
rs149154082
|
0.01677
|
|
NM_006516.4(SLC2A1):c.-190G>C
|
rs114514007
|
0.01675
|
|
NM_002076.4(GNS):c.459+14T>C
|
rs78614637
|
0.01673
|
|
NM_001715.3(BLK):c.435C>T (p.Ala145=)
|
rs7836533
|
0.01672
|
|
NM_017755.6(NSUN2):c.537+9T>C
|
rs116785933
|
0.01651
|
|
NM_003619.4(PRSS12):c.*672C>T
|
rs72919299
|
0.01650
|
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
|
NM_000925.4(PDHB):c.435= (p.Arg145=)
|
rs1438518070
|
0.01648
|
|
NM_053013.4(ENO3):c.1235+3A>G
|
rs73973669
|
0.01622
|
|
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)
|
rs35289681
|
0.01618
|
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
|
NM_006516.2(SLC2A1):c.-424C>G
|
rs867977523
|
0.01606
|
|
NM_053013.4(ENO3):c.993C>T (p.Ala331=)
|
rs2230257
|
0.01604
|
|
NM_000262.3(NAGA):c.*1930G>A
|
rs144373253
|
0.01599
|
|
NM_002500.5(NEUROD1):c.590C>A (p.Pro197His)
|
rs8192556
|
0.01580
|
|
NM_000308.4(CTSA):c.1353G>A (p.Thr451=)
|
rs25649
|
0.01568
|
|
NM_012434.5(SLC17A5):c.*909C>T
|
rs142349844
|
0.01560
|
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
|
NM_000512.5(GALNS):c.566+10C>T
|
rs77514811
|
0.01544
|
|
NM_000642.3(AGL):c.207T>C (p.Asn69=)
|
rs2230305
|
0.01529
|
|
NM_002294.3(LAMP2):c.*4562A>G
|
rs142200759
|
0.01528
|
|
NM_000642.3(AGL):c.112A>G (p.Thr38Ala)
|
rs35278779
|
0.01527
|
|
NM_198586.3(NHLRC1):c.*237T>C
|
rs73379118
|
0.01527
|
|
NM_198586.3(NHLRC1):c.*85T>A
|
rs73379121
|
0.01526
|
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
|
NM_000642.3(AGL):c.82+1565T>G
|
rs145049634
|
0.01521
|
|
NM_002294.3(LAMP2):c.*1617C>T
|
rs141881232
|
0.01521
|
|
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)
|
rs75826658
|
0.01517
|
|
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)
|
rs61733199
|
0.01511
|
|
NM_000175.5(GPI):c.948C>A (p.Ala316=)
|
rs8191416
|
0.01510
|
|
NM_138413.4(HOGA1):c.834+42G>T
|
rs115279832
|
0.01504
|
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
|
NM_000290.4(PGAM2):c.216C>T (p.Asp72=)
|
rs111656877
|
0.01481
|
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
|
NM_000308.4(CTSA):c.444+14C>T
|
rs6032580
|
0.01474
|
|
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys)
|
rs34714252
|
0.01465
|
|
NM_000108.5(DLD):c.*855C>T
|
rs116055514
|
0.01464
|
|
NM_003619.4(PRSS12):c.*208C>T
|
rs142775631
|
0.01464
|
|
NM_198586.3(NHLRC1):c.*276G>C
|
rs11966748
|
0.01453
|
|
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln)
|
rs17121464
|
0.01447
|
|
NM_002294.3(LAMP2):c.*2575G>C
|
rs77126790
|
0.01447
|
|
NM_000404.4(GLB1):c.1824G>C (p.Leu608=)
|
rs77226678
|
0.01441
|
|
NM_080749.4(NEURL2):c.-112C>T
|
rs117529875
|
0.01440
|
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
|
NM_000308.3(CTSA):c.-43G>T
|
rs116893852
|
0.01437
|
|
NM_000512.5(GALNS):c.*224C>G
|
rs111233947
|
0.01437
|
|
NM_002103.5(GYS1):c.693G>A (p.Lys231=)
|
rs5460
|
0.01434
|
|
NM_000293.3(PHKB):c.*2086A>G
|
rs9940720
|
0.01397
|
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
|
NM_000292.3(PHKA2):c.849T>A (p.Ile283=)
|
rs61733284
|
0.01392
|
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
|
NM_024824.5(ZC3H14):c.432-3T>C
|
rs77755006
|
0.01392
|
|
NM_000545.8(HNF1A):c.1720= (p.Ser574=)
|
rs1169305
|
0.01390
|
|
NM_000293.3(PHKB):c.318T>C (p.Asp106=)
|
rs17738933
|
0.01382
|
|
NM_016042.4(EXOSC3):c.*197C>T
|
rs117073203
|
0.01382
|
|
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)
|
rs34297805
|
0.01381
|
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
|
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=)
|
rs149815494
|
0.01375
|
|
NM_002103.5(GYS1):c.1246A>G (p.Met416Val)
|
rs5447
|
0.01369
|
|
NM_000263.3(NAGLU):c.-200G>C
|
rs114904267
|
0.01366
|
|
NM_001041.4(SI):c.517C>G (p.Pro173Ala)
|
rs146960446
|
0.01365
|
|
NM_000340.2(SLC2A2):c.*909C>T
|
rs77733690
|
0.01361
|
|
NM_000340.2(SLC2A2):c.1069-9T>C
|
rs5407
|
0.01360
|
|
NM_000340.2(SLC2A2):c.*476T>C
|
rs75975646
|
0.01358
|
|
NM_000340.2(SLC2A2):c.*356A>T
|
rs7610064
|
0.01356
|
|
NM_001040716.2(PC):c.-274A>C
|
rs192495346
|
0.01355
|
|
NM_000151.4(G6PC1):c.*745G>T
|
rs116897758
|
0.01352
|
|
NM_152419.3(HGSNAT):c.*817C>T
|
rs78952714
|
0.01352
|
|
NM_000030.3(AGXT):c.681-94G>A
|
rs141154272
|
0.01343
|
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
|
NM_017755.6(NSUN2):c.*50T>G
|
rs56282400
|
0.01331
|
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
|
NM_006721.4(ADK):c.727-11T>C
|
rs12778270
|
0.01325
|
|
NM_001040716.2(PC):c.2580C>T (p.Asp860=)
|
rs45584036
|
0.01323
|
|
NM_000458.4(HNF1B):c.*804T>C
|
rs75361710
|
0.01316
|
|
NM_000262.3(NAGA):c.*1103T>C
|
rs117826003
|
0.01315
|
|
NM_002299.4(LCT):c.454G>A (p.Ala152Thr)
|
rs114525655
|
0.01314
|
|
NM_000642.3(AGL):c.3849T>C (p.Ala1283=)
|
rs28730706
|
0.01312
|
|
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)
|
rs34336420
|
0.01310
|
|
NM_000263.4(NAGLU):c.764+19C>G
|
rs77738617
|
0.01306
|
|
NM_000343.4(SLC5A1):c.*1508C>A
|
rs8142324
|
0.01304
|
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
|
NM_002103.5(GYS1):c.420A>G (p.Gly140=)
|
rs5458
|
0.01301
|
|
NM_000642.3(AGL):c.*739A>G
|
rs41285742
|
0.01299
|
|
NM_001164277.2(SLC37A4):c.626+14C>T
|
rs56394886
|
0.01293
|
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
|
NM_000209.4(PDX1):c.162G>A (p.Leu54=)
|
rs28509441
|
0.01287
|
|
NM_002294.3(LAMP2):c.*2518A>G
|
rs56158197
|
0.01287
|
|
NM_153281.2(HYAL1):c.-414G>A
|
rs587609136
|
0.01280
|
|
NM_000642.3(AGL):c.3260-19G>A
|
rs140333425
|
0.01279
|
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
|
NM_002299.4(LCT):c.*325G>C
|
rs62170085
|
0.01267
|
|
NM_000642.3(AGL):c.1612-24C>A
|
rs115666491
|
0.01263
|
|
NM_000343.4(SLC5A1):c.*795G>T
|
rs117904039
|
0.01237
|
|
NM_003051.4(SLC16A1):c.*1876G>C
|
rs11811205
|
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_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
|
NM_000507.4(FBP1):c.*121T>G
|
rs2274689
|
0.01225
|
|
NM_000046.5(ARSB):c.1446A>G (p.Glu482=)
|
rs35714924
|
0.01223
|
|
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)
|
rs12002324
|
0.01219
|
|
NM_002863.5(PYGL):c.1621-6T>C
|
rs74539788
|
0.01217
|
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
|
NM_003051.4(SLC16A1):c.*332T>C
|
rs41306207
|
0.01211
|
|
NM_003619.4(PRSS12):c.1272T>G (p.Val424=)
|
rs2292598
|
0.01208
|
|
NM_175914.5(HNF4A):c.319+19C>T
|
rs112386711
|
0.01208
|
|
NM_001352514.2(HLCS):c.*1744G>A
|
rs117270429
|
0.01206
|
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
|
NM_000365.6(TPI1):c.544-14G>A
|
rs72661109
|
0.01198
|
|
NM_001041.4(SI):c.598A>G (p.Ser200Gly)
|
rs113903766
|
0.01197
|
|
NM_001352514.2(HLCS):c.331-7111G>A
|
rs77067023
|
0.01191
|
|
NM_000293.3(PHKB):c.1363+13G>T
|
rs117536391
|
0.01189
|
|
NM_002294.3(LAMP2):c.*3249T>C
|
rs41300908
|
0.01188
|
|
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_001040716.2(PC):c.2619C>T (p.Asn873=)
|
rs2229745
|
0.01182
|
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
|
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg)
|
rs11302
|
0.01176
|
|
NM_000292.3(PHKA2):c.718-3C>T
|
rs140662042
|
0.01175
|
|
NM_006516.4(SLC2A1):c.19-207T>C
|
rs41310434
|
0.01173
|
|
NM_175914.5(HNF4A):c.*155G>A
|
rs41280258
|
0.01170
|
|
NM_000151.4(G6PC1):c.*1012C>T
|
rs75063448
|
0.01164
|
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
|
NM_012096.3(APPL1):c.69A>G (p.Leu23=)
|
rs11544592
|
0.01160
|
|
NM_152419.3(HGSNAT):c.1727-9C>G
|
rs76750342
|
0.01160
|
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
|
NM_000365.6(TPI1):c.*341C>T
|
rs1804544
|
0.01157
|
|
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg)
|
rs116340501
|
0.01154
|
|
NM_000458.4(HNF1B):c.809+109A>G
|
rs9901538
|
0.01153
|
|
NM_000458.4(HNF1B):c.1340-303T>A
|
rs112298654
|
0.01150
|
|
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=)
|
rs34853569
|
0.01148
|
|
NM_000340.2(SLC2A2):c.*474A>G
|
rs114710971
|
0.01147
|
|
NM_000343.4(SLC5A1):c.6C>T (p.Asp2=)
|
rs33973317
|
0.01145
|
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
|
NM_000343.3(SLC5A1):c.-170C>T
|
rs142248518
|
0.01139
|
|
NM_002103.5(GYS1):c.*841A>G
|
rs75797604
|
0.01139
|
|
NM_002103.5(GYS1):c.1549+7G>A
|
rs5449
|
0.01125
|
|
NM_175914.5(HNF4A):c.*1975G>A
|
rs140719706
|
0.01125
|
|
NM_000642.3(AGL):c.*575G>T
|
rs60880558
|
0.01122
|
|
NM_000642.3(AGL):c.*1244T>A
|
rs72963791
|
0.01120
|
|
NM_001366110.1(PAX4):c.*33A>C
|
rs150578361
|
0.01119
|
|
NM_153281.2(HYAL1):c.-271G>A
|
rs115085570
|
0.01118
|
|
NM_005327.4(HADH):c.-65G>A
|
rs28703310
|
0.01115
|
|
NM_024989.4(PGAP1):c.860+12C>A
|
rs79169433
|
0.01104
|
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
|
NM_005566.4(LDHA):c.*582C>T
|
rs144317385
|
0.01099
|
|
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=)
|
rs74459402
|
0.01097
|
|
NM_175914.5(HNF4A):c.*167T>A
|
rs11574744
|
0.01097
|
|
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu)
|
rs73569515
|
0.01096
|
|
NM_005566.4(LDHA):c.387G>A (p.Pro129=)
|
rs61752915
|
0.01092
|
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
|
NM_000343.4(SLC5A1):c.1666-5T>C
|
rs33968460
|
0.01076
|
|
NM_016219.5(MAN1B1):c.1255-5C>T
|
rs73569532
|
0.01076
|
|
NM_000512.5(GALNS):c.1278G>T (p.Gly426=)
|
rs76651187
|
0.01075
|
|
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)
|
rs61735096
|
0.01069
|
|
NM_001352514.2(HLCS):c.1494C>T (p.Asn498=)
|
rs1065759
|
0.01068
|
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.01067
|
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
|
NM_001041.4(SI):c.692C>G (p.Thr231Ser)
|
rs79468450
|
0.01059
|
|
NM_000340.2(SLC2A2):c.*920A>C
|
rs56204521
|
0.01056
|
|
NM_033159.4(HYAL1):c.384C>T (p.Ile128=)
|
rs116097974
|
0.01056
|
|
NM_000528.4(MAN2B1):c.2436+17C>T
|
rs148420017
|
0.01054
|
|
NM_031466.8(TRAPPC9):c.-11+10G>A
|
rs117206975
|
0.01054
|
|
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)
|
rs74342080
|
0.01054
|
|
NM_002299.4(LCT):c.*429A>C
|
rs77631953
|
0.01053
|
|
NM_000343.4(SLC5A1):c.*2244C>T
|
rs114700055
|
0.01052
|
|
NM_000485.3(APRT):c.90G>T (p.Ser30=)
|
rs8191472
|
0.01050
|
|
NM_000208.4(INSR):c.1989G>A (p.Ala663=)
|
rs36081066
|
0.01045
|
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
|
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)
|
rs35010541
|
0.01045
|
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
|
NM_006488.3(KHK):c.*79G>A
|
rs75067630
|
0.01036
|
|
NM_006569.6(CGREF1):c.*515A>C
|
rs78413769
|
0.01034
|
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
|
NM_002076.4(GNS):c.*599T>A
|
rs151304792
|
0.01029
|
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
|
NM_005908.4(MANBA):c.178-8A>G
|
rs113584126
|
0.01028
|
|
NM_000284.4(PDHA1):c.*1563C>G
|
rs7883708
|
0.01025
|
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
|
NM_006516.4(SLC2A1):c.973-17A>G
|
rs111596088
|
0.01025
|
|
NM_138413.4(HOGA1):c.777G>A (p.Thr259=)
|
rs34820265
|
0.01024
|
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
|
NM_000352.6(ABCC8):c.2556+22G>A
|
rs73423036
|
0.01022
|
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
|
NM_000512.5(GALNS):c.-68C>T
|
rs144789309
|
0.01019
|
|
NM_000262.3(NAGA):c.*1696C>T
|
rs11703233
|
0.01015
|
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
|
NM_016042.4(EXOSC3):c.*296T>C
|
rs138197600
|
0.01009
|
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
|
NM_000284.4(PDHA1):c.*1682T>C
|
rs55744630
|
0.00998
|
|
NM_000293.3(PHKB):c.*1001G>A
|
rs868394484
|
0.00997
|
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
|
NM_004130.4(GYG1):c.319-12C>T
|
rs114156848
|
0.00990
|
|
NM_000046.5(ARSB):c.*2859T>C
|
rs116826065
|
0.00988
|
|
NM_000208.4(INSR):c.1098T>C (p.Ser366=)
|
rs2229435
|
0.00988
|
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
|
NM_001715.2(BLK):c.-448T>C
|
rs148891021
|
0.00986
|
|
NM_000108.5(DLD):c.*648G>A
|
rs57801571
|
0.00985
|
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
|
NM_053013.4(ENO3):c.994G>A (p.Val332Ile)
|
rs61735456
|
0.00983
|
|
NM_000147.5(FUCA1):c.327G>A (p.Gln109=)
|
rs61996281
|
0.00982
|
|
NM_000343.4(SLC5A1):c.1092C>T (p.Ile364=)
|
rs33915456
|
0.00975
|
|
NM_000512.5(GALNS):c.121-210C>T
|
rs75552025
|
0.00974
|
|
NM_017755.6(NSUN2):c.*581T>C
|
rs142451419
|
0.00970
|
|
NM_031229.4(RBCK1):c.757-15G>C
|
rs200457271
|
0.00970
|
|
NM_002294.3(LAMP2):c.*2162G>A
|
rs767123866
|
0.00966
|
|
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)
|
rs10410289
|
0.00964
|
|
NM_000293.3(PHKB):c.*641C>A
|
rs117861728
|
0.00962
|
|
NM_000046.5(ARSB):c.*2654A>G
|
rs147170505
|
0.00961
|
|
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)
|
rs34421970
|
0.00952
|
|
NM_000208.4(INSR):c.909G>A (p.Gln303=)
|
rs9282757
|
0.00950
|
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
|
NM_000046.5(ARSB):c.1068A>T (p.Thr356=)
|
rs16876029
|
0.00947
|
|
NM_000108.5(DLD):c.777A>G (p.Lys259=)
|
rs1065762
|
0.00944
|
|
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)
|
rs114490852
|
0.00944
|
|
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly)
|
rs115335100
|
0.00943
|
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
|
NM_000108.5(DLD):c.*1300A>G
|
rs77095705
|
0.00939
|
|
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=)
|
rs61729452
|
0.00939
|
|
NM_002076.4(GNS):c.21C>G (p.Ala7=)
|
rs61743823
|
0.00937
|
|
NM_006488.3(KHK):c.*540G>C
|
rs60769101
|
0.00934
|
|
NM_003477.3(PDHX):c.*114A>G
|
rs76663700
|
0.00931
|
|
NM_000642.3(AGL):c.*2058G>A
|
rs12117747
|
0.00930
|
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
|
NM_002076.4(GNS):c.1598G>A (p.Arg533His)
|
rs61743822
|
0.00929
|
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
|
NM_000293.3(PHKB):c.870+17T>C
|
rs75918606
|
0.00923
|
|
NM_000151.4(G6PC1):c.*1210C>G
|
rs144568330
|
0.00921
|
|
NM_000151.4(G6PC1):c.-77G>A
|
rs145752565
|
0.00919
|
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
|
NM_001360016.2(G6PD):c.645-17C>T
|
rs5986875
|
0.00915
|
|
NM_000199.5(SGSH):c.*201A>T
|
rs139066649
|
0.00913
|
|
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg)
|
rs34103538
|
0.00913
|
|
NM_002103.5(GYS1):c.1926G>A (p.Val642=)
|
rs5451
|
0.00912
|
|
NM_000199.5(SGSH):c.*415A>G
|
rs141810727
|
0.00910
|
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
|
NM_000181.4(GUSB):c.162C>T (p.Asn54=)
|
rs74975849
|
0.00909
|
|
NM_001041.4(SI):c.*198G>T
|
rs146143233
|
0.00908
|
|
NM_016042.4(EXOSC3):c.-12G>C
|
rs115431773
|
0.00907
|
|
NM_000289.6(PFKM):c.*282C>T
|
rs8977
|
0.00906
|
|
NM_152419.3(HGSNAT):c.*3213T>A
|
rs141634395
|
0.00899
|
|
NM_002591.4(PCK1):c.*359G>A
|
rs3211338
|
0.00897
|
|
NM_000027.4(AGA):c.313C>A (p.Leu105Ile)
|
rs76491548
|
0.00896
|
|
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)
|
rs34355967
|
0.00892
|
|
NM_000208.4(INSR):c.2718T>C (p.Ala906=)
|
rs2229433
|
0.00891
|
|
NM_001715.3(BLK):c.177C>G (p.Asp59Glu)
|
rs146083915
|
0.00891
|
|
NM_002076.4(GNS):c.*2751C>T
|
rs137943279
|
0.00886
|
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
|
NM_002863.5(PYGL):c.962G>A (p.Arg321His)
|
rs116465563
|
0.00878
|
|
NM_012203.2(GRHPR):c.493+9C>T
|
rs41303225
|
0.00873
|
|
NM_144563.3(RPIA):c.858A>G (p.Leu286=)
|
rs142341148
|
0.00870
|
|
NM_152419.3(HGSNAT):c.*733G>T
|
rs139144727
|
0.00863
|
|
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala)
|
rs199722340
|
0.00862
|
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
|
NM_000293.3(PHKB):c.2244C>G (p.Leu748=)
|
rs34717357
|
0.00851
|
|
NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
|
NM_003619.4(PRSS12):c.*1595A>G
|
rs145858385
|
0.00851
|
|
NM_000151.4(G6PC1):c.*250G>A
|
rs143802152
|
0.00850
|
|
NM_001352514.2(HLCS):c.1412G>A (p.Arg471His)
|
rs61732501
|
0.00850
|
|
NM_000151.4(G6PC1):c.*2723G>A
|
rs146698137
|
0.00848
|
|
NM_005271.5(GLUD1):c.*852A>G
|
rs150260124
|
0.00846
|
|
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr)
|
rs34225615
|
0.00845
|
|
NM_006721.4(ADK):c.195-18A>G
|
rs144492760
|
0.00844
|
|
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn)
|
rs139579928
|
0.00843
|
|
NM_000202.8(IDS):c.467C>A (p.Pro156Gln)
|
rs145231211
|
0.00832
|
|
NM_000340.2(SLC2A2):c.*325T>A
|
rs189555280
|
0.00832
|
|
NM_000545.8(HNF1A):c.326+241T>C
|
rs575098936
|
0.00832
|
|
NM_080749.4(NEURL2):c.-163T>G
|
rs184484066
|
0.00832
|
|
NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)
|
rs61740509
|
0.00831
|
|
NM_000202.8(IDS):c.465T>A (p.Phe155Leu)
|
rs149210251
|
0.00829
|
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
|
NM_005271.5(GLUD1):c.*908T>C
|
rs140942830
|
0.00817
|
|
NM_002299.4(LCT):c.301A>G (p.Ser101Gly)
|
rs35837297
|
0.00812
|
|
NM_002294.3(LAMP2):c.*5048A>T
|
rs113285013
|
0.00807
|
|
NM_002637.4(PHKA1):c.-229G>A
|
rs782474797
|
0.00807
|
|
NM_002299.4(LCT):c.1318G>A (p.Val440Ile)
|
rs35940156
|
0.00802
|
|
NM_002076.4(GNS):c.*814T>C
|
rs78614043
|
0.00798
|
|
NM_000208.4(INSR):c.262T>C (p.Leu88=)
|
rs61736580
|
0.00797
|
|
NM_001365304.2(LOC112694756):c.*889-16C>A
|
rs78124282
|
0.00797
|
|
NM_002076.4(GNS):c.*1228C>T
|
rs115625510
|
0.00797
|
|
NM_002076.4(GNS):c.*1648C>T
|
rs75568735
|
0.00795
|
|
NM_004130.4(GYG1):c.159A>G (p.Thr53=)
|
rs148619511
|
0.00795
|
|
NM_053013.4(ENO3):c.1041C>T (p.Ile347=)
|
rs114208569
|
0.00794
|
|
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)
|
rs59357922
|
0.00793
|
|
NM_003597.5(KLF11):c.*194G>A
|
rs76220150
|
0.00789
|
|
NM_000343.4(SLC5A1):c.50T>C (p.Val17Ala)
|
rs33951240
|
0.00787
|
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
|
NM_000642.3(AGL):c.2802A>C (p.Ala934=)
|
rs34230588
|
0.00775
|
|
NM_002299.4(LCT):c.4347T>C (p.Phe1449=)
|
rs17699796
|
0.00774
|
|
NM_000545.8(HNF1A):c.326+20C>A
|
rs80051981
|
0.00772
|
|
NM_000340.2(SLC2A2):c.*1349C>T
|
rs112957674
|
0.00770
|
|
NM_001352514.2(HLCS):c.*2624G>A
|
rs73210780
|
0.00769
|
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
|
NM_000458.4(HNF1B):c.345-19C>T
|
rs59527848
|
0.00765
|
|
NM_000343.4(SLC5A1):c.*1203A>G
|
rs149444431
|
0.00762
|
|
NM_000343.4(SLC5A1):c.1130-9C>T
|
rs33914280
|
0.00761
|
|
NM_001352514.2(HLCS):c.494-13A>G
|
rs76785742
|
0.00759
|
|
NM_002300.8(LDHB):c.421+13A>G
|
rs76163762
|
0.00759
|
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
|
NM_000158.4(GBE1):c.*308C>T
|
rs141214861
|
0.00757
|
|
NM_000181.4(GUSB):c.561A>G (p.Gln187=)
|
rs74430256
|
0.00755
|
|
NM_175914.5(HNF4A):c.*521G>A
|
rs111466682
|
0.00755
|
|
NM_006516.4(SLC2A1):c.*60C>T
|
rs2229684
|
0.00754
|
|
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys)
|
rs35501326
|
0.00753
|
|
NM_017755.6(NSUN2):c.123C>T (p.Ile41=)
|
rs112327056
|
0.00752
|
|
NM_000162.5(GCK):c.864-105G>A
|
rs139242745
|
0.00743
|
|
NM_000507.4(FBP1):c.-154C>G
|
rs28382860
|
0.00743
|
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
|
NM_001715.3(BLK):c.102C>T (p.Asp34=)
|
rs75383960
|
0.00743
|
|
NM_006488.3(KHK):c.879C>A (p.Gly293=)
|
rs116026105
|
0.00740
|
|
NM_002500.5(NEUROD1):c.-65C>T
|
rs8192555
|
0.00739
|
|
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=)
|
rs61733281
|
0.00738
|
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
|
NM_003619.4(PRSS12):c.*912G>A
|
rs10212745
|
0.00737
|
|
NM_003597.5(KLF11):c.*235T>C
|
rs150051327
|
0.00733
|
|
NM_000151.4(G6PC1):c.*2474C>T
|
rs143133684
|
0.00732
|
|
NM_002299.4(LCT):c.4777G>A (p.Val1593Met)
|
rs35891837
|
0.00726
|
|
NM_153281.2(HYAL1):c.-240A>G
|
rs12634784
|
0.00726
|
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
|
NM_006488.3(KHK):c.-245G>A
|
rs192615638
|
0.00724
|
|
NM_001370658.1(BTD):c.142A>G (p.Ile48Val)
|
rs114092911
|
0.00722
|
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
|
NM_002103.5(GYS1):c.1545A>G (p.Thr515=)
|
rs5448
|
0.00719
|
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
|
NM_003477.3(PDHX):c.957G>A (p.Leu319=)
|
rs36047324
|
0.00717
|
|
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)
|
rs2229137
|
0.00715
|
|
NM_003619.4(PRSS12):c.1773C>T (p.His591=)
|
rs34131974
|
0.00712
|
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
|
NM_175914.5(HNF4A):c.*3086C>T
|
rs551080524
|
0.00706
|
|
NM_000213.5(ITGB4):c.*4C>T
|
rs189610725
|
0.00703
|
|
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)
|
rs116125936
|
0.00703
|
|
NM_000512.5(GALNS):c.*236C>T
|
rs189375208
|
0.00701
|
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
|
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=)
|
rs114050461
|
0.00699
|
|
NM_000027.4(AGA):c.*220G>C
|
rs12502301
|
0.00696
|
|
NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)
|
rs61740117
|
0.00691
|
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
|
NM_138413.4(HOGA1):c.*94C>T
|
rs116711005
|
0.00688
|
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
|
NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=)
|
rs75646778
|
0.00682
|
|
NM_002591.4(PCK1):c.12G>A (p.Gln4=)
|
rs28383584
|
0.00679
|
|
NM_003597.5(KLF11):c.429C>T (p.Ala143=)
|
rs113903638
|
0.00679
|
|
NM_000035.4(ALDOB):c.-214G>A
|
rs185972191
|
0.00678
|
|
NM_033159.4(HYAL1):c.*221T>C
|
rs192692460
|
0.00675
|
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
|
NM_000528.4(MAN2B1):c.*42G>A
|
rs149101136
|
0.00673
|
|
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_003041.4(SLC5A2):c.*63G>A
|
rs114517938
|
0.00666
|
|
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)
|
rs200121704
|
0.00665
|
|
NM_000208.4(INSR):c.2683-5C>T
|
rs41306363
|
0.00664
|
|
NM_002103.5(GYS1):c.*908G>A
|
rs117997270
|
0.00664
|
|
NM_000162.5(GCK):c.31G>A (p.Ala11Thr)
|
rs116093166
|
0.00663
|
|
NM_000343.4(SLC5A1):c.*1432G>T
|
rs28540121
|
0.00663
|
|
NM_198586.3(NHLRC1):c.*344A>T
|
rs147528518
|
0.00663
|
|
NM_001040716.2(PC):c.2249C>T (p.Thr750Met)
|
rs145400751
|
0.00662
|
|
NM_001715.2(BLK):c.-530G>A
|
rs115316286
|
0.00661
|
|
NM_000404.4(GLB1):c.*376C>G
|
rs147437116
|
0.00659
|
|
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val)
|
rs143732206
|
0.00657
|
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
|
NM_000293.3(PHKB):c.*740C>T
|
rs184521822
|
0.00652
|
|
NM_001715.3(BLK):c.472+12G>A
|
rs145058498
|
0.00652
|
|
NM_024989.4(PGAP1):c.1952+10A>C
|
rs7609297
|
0.00652
|
|
NM_000035.4(ALDOB):c.*268T>C
|
rs142431256
|
0.00648
|
|
NM_002294.3(LAMP2):c.*3459G>T
|
rs185990694
|
0.00648
|
|
NM_000199.5(SGSH):c.522C>T (p.Tyr174=)
|
rs147064455
|
0.00647
|
|
NM_153281.2(HYAL1):c.-272C>T
|
rs139571382
|
0.00643
|
|
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)
|
rs75867009
|
0.00642
|
|
NM_000925.3(PDHB):c.-26G>A
|
rs201243189
|
0.00640
|
|
NM_000162.5(GCK):c.46-4952G>A
|
rs76178320
|
0.00639
|
|
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=)
|
rs113472164
|
0.00639
|
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
|
NM_020897.3(HCN3):c.*1216A>C
|
rs41264939
|
0.00637
|
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
|
NM_000151.4(G6PC1):c.*2532G>A
|
rs76156285
|
0.00628
|
|
NM_000262.3(NAGA):c.*170G>A
|
rs142863061
|
0.00626
|
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
|
NM_000404.4(GLB1):c.793-19C>T
|
rs114082733
|
0.00619
|
|
NM_017755.6(NSUN2):c.-27C>A
|
rs190264173
|
0.00619
|
|
NM_153281.2(HYAL1):c.-319T>C
|
rs1429084988
|
0.00618
|
|
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly)
|
rs142342237
|
0.00617
|
|
NM_000207.3(INS):c.188-16C>T
|
rs5507
|
0.00616
|
|
NM_003597.5(KLF11):c.*107G>A
|
rs140559044
|
0.00616
|
|
NM_002863.5(PYGL):c.1093-6C>A
|
rs147211684
|
0.00613
|
|
NM_138501.6(TECR):c.16-15G>A
|
rs113855270
|
0.00612
|
|
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=)
|
rs114731222
|
0.00609
|
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
|
NM_000485.3(APRT):c.*182A>G
|
rs8191498
|
0.00599
|
|
NM_000046.4(ARSB):c.-246C>T
|
rs180784385
|
0.00598
|
|
NM_000151.4(G6PC1):c.*1454C>T
|
rs148453821
|
0.00598
|
|
NM_001040716.2(PC):c.2682T>C (p.Tyr894=)
|
rs56705397
|
0.00598
|
|
NM_175914.5(HNF4A):c.393T>C (p.Asn131=)
|
rs113308087
|
0.00598
|
|
NM_000155.4(GALT):c.*148T>C
|
rs115985083
|
0.00597
|
|
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)
|
rs147490060
|
0.00596
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
|
NM_012434.5(SLC17A5):c.*560G>A
|
rs115453489
|
0.00594
|
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
|
NM_003597.5(KLF11):c.*981G>A
|
rs148235172
|
0.00584
|
|
NM_152419.3(HGSNAT):c.*2258A>G
|
rs78930544
|
0.00584
|
|
NM_000545.8(HNF1A):c.1309+52C>T
|
rs56031130
|
0.00583
|
|
NM_003597.5(KLF11):c.-76G>A
|
rs1038766626
|
0.00583
|
|
NM_000046.5(ARSB):c.*2708G>A
|
rs141667208
|
0.00581
|
|
NM_000199.5(SGSH):c.675C>T (p.Phe225=)
|
rs34520362
|
0.00580
|
|
NM_000208.4(INSR):c.618C>T (p.Val206=)
|
rs56012021
|
0.00580
|
|
NM_000262.3(NAGA):c.*161T>C
|
rs150991002
|
0.00574
|
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
|
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)
|
rs112951498
|
0.00574
|
|
NM_000108.5(DLD):c.*887T>C
|
rs16872396
|
0.00569
|
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
|
NM_152419.3(HGSNAT):c.*477G>A
|
rs76878005
|
0.00567
|
|
NM_003597.5(KLF11):c.*882G>A
|
rs183240123
|
0.00564
|
|
NM_020066.5(FMN2):c.2886A>G (p.Ala962=)
|
rs199866405
|
0.00564
|
|
NM_021957.4(GYS2):c.1872A>G (p.Glu624=)
|
rs142883971
|
0.00562
|
|
NM_001041.4(SI):c.2887A>C (p.Arg963=)
|
rs113456182
|
0.00560
|
|
NM_000202.8(IDS):c.1269C>T (p.Pro423=)
|
rs61736890
|
0.00558
|
|
NM_002299.4(LCT):c.3006G>A (p.Arg1002=)
|
rs114815229
|
0.00558
|
|
NM_000046.5(ARSB):c.*1635G>A
|
rs35597782
|
0.00552
|
|
NM_001041.4(SI):c.123T>C (p.Ile41=)
|
rs146222650
|
0.00551
|
|
NM_000151.4(G6PC1):c.340+42C>T
|
rs116797100
|
0.00549
|
|
NM_000155.4(GALT):c.*147A>G
|
rs73501024
|
0.00548
|
|
NM_000404.4(GLB1):c.756C>T (p.Phe252=)
|
rs142326197
|
0.00547
|
|
NM_001807.6(CEL):c.1833G>C (p.Gly611=)
|
rs1211933243
|
0.00547
|
|
NM_000207.3(INS):c.63A>G (p.Pro21=)
|
rs11564720
|
0.00546
|
|
NM_000158.4(GBE1):c.143+11A>C
|
rs145918282
|
0.00545
|
|
NM_000209.4(PDX1):c.-18C>T
|
rs193922351
|
0.00540
|
|
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=)
|
rs144384573
|
0.00538
|
|
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)
|
rs34398018
|
0.00536
|
|
NM_000108.5(DLD):c.*1074C>G
|
rs149275540
|
0.00531
|
|
NM_002863.5(PYGL):c.2112T>C (p.Ala704=)
|
rs35110875
|
0.00531
|
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
|
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser)
|
rs78348923
|
0.00530
|
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
|
NM_000290.4(PGAM2):c.366G>A (p.Pro122=)
|
rs143830182
|
0.00529
|
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
|
NM_001352514.2(HLCS):c.331-7157C>T
|
rs149104163
|
0.00524
|
|
NM_000642.3(AGL):c.*2060T>C
|
rs191429370
|
0.00522
|
|
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg)
|
rs16980929
|
0.00520
|
|
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=)
|
rs144538918
|
0.00517
|
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
|
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)
|
rs12043139
|
0.00515
|
|
NM_001041.4(SI):c.1398+12T>C
|
rs115295826
|
0.00514
|
|
NM_000891.3(KCNJ2):c.*211T>C
|
rs56194813
|
0.00513
|
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
|
NM_000030.3(AGXT):c.680+130C>T
|
rs78178548
|
0.00508
|
|
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
|
rs150483902
|
0.00507
|
|
NM_152419.3(HGSNAT):c.*1212C>T
|
rs186132187
|
0.00506
|
|
NM_001715.3(BLK):c.-165G>T
|
rs139110057
|
0.00505
|
|
NM_000365.6(TPI1):c.*39G>A
|
rs12692
|
0.00504
|
|
NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
|
NM_003477.3(PDHX):c.160+15C>G
|
rs187304189
|
0.00501
|
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
|
NM_000292.3(PHKA2):c.963C>T (p.Phe321=)
|
rs35010660
|
0.00498
|
|
NM_001366110.1(PAX4):c.646-7C>T
|
rs11977988
|
0.00498
|
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
|
NM_000181.4(GUSB):c.725-16C>T
|
rs62470936
|
0.00494
|
|
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=)
|
rs140001300
|
0.00493
|
|
NM_000046.5(ARSB):c.*2408A>G
|
rs13354324
|
0.00491
|
|
NM_000458.4(HNF1B):c.-67C>T
|
rs140699244
|
0.00491
|
|
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile)
|
rs76033442
|
0.00489
|
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
|
NM_016219.5(MAN1B1):c.*223G>A
|
rs141959719
|
0.00488
|
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
|
NM_000404.4(GLB1):c.*184G>A
|
rs143430374
|
0.00483
|
|
NM_006755.2(TALDO1):c.801C>T (p.Asn267=)
|
rs142263629
|
0.00483
|
|
NM_000108.5(DLD):c.*474T>C
|
rs16872391
|
0.00479
|
|
NM_152419.3(HGSNAT):c.*2767C>T
|
rs74762381
|
0.00479
|
|
NM_001041.4(SI):c.2923T>C (p.Tyr975His)
|
rs146785675
|
0.00477
|
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
|
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)
|
rs74385837
|
0.00475
|
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
|
NM_016203.4(PRKAG2):c.1234-317T>G
|
rs141541040
|
0.00473
|
|
NM_003619.4(PRSS12):c.*1615C>T
|
rs150249635
|
0.00471
|
|
NM_001008216.2(GALE):c.-77+241C>G
|
rs566996145
|
0.00470
|
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529
|
0.00469
|
|
NM_006721.4(ADK):c.987T>C (p.Ser329=)
|
rs116653664
|
0.00468
|
|
NM_002103.5(GYS1):c.*256G>A
|
rs148077948
|
0.00465
|
|
NM_000181.4(GUSB):c.1245-15C>T
|
rs62470935
|
0.00464
|
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
|
NM_006488.3(KHK):c.159C>T (p.Leu53=)
|
rs112920456
|
0.00463
|
|
NM_021957.4(GYS2):c.577G>A (p.Ala193Thr)
|
rs16924038
|
0.00462
|
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
|
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=)
|
rs140105878
|
0.00457
|
|
NM_001041.4(SI):c.1716-13G>A
|
rs112259253
|
0.00456
|
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
|
NM_000512.5(GALNS):c.*546C>T
|
rs114447455
|
0.00455
|
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
|
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val)
|
rs9934849
|
0.00453
|
|
NM_000365.6(TPI1):c.600G>A (p.Ala200=)
|
rs61747602
|
0.00452
|
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
|
NM_000293.3(PHKB):c.*226A>G
|
rs9935072
|
0.00451
|
|
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)
|
rs75029862
|
0.00451
|
|
NM_000151.4(G6PC1):c.*2184T>A
|
rs146025743
|
0.00450
|
|
NM_000293.3(PHKB):c.1126+14T>G
|
rs28691569
|
0.00450
|
|
NM_021957.4(GYS2):c.*259T>A
|
rs140445396
|
0.00450
|
|
NM_001064.4(TKT):c.541A>G (p.Ile181Val)
|
rs17052920
|
0.00449
|
|
NM_003619.4(PRSS12):c.51A>G (p.Glu17=)
|
rs144853134
|
0.00447
|
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
|
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg)
|
rs75639549
|
0.00445
|
|
NM_017755.6(NSUN2):c.510G>A (p.Leu170=)
|
rs144888290
|
0.00445
|
|
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=)
|
rs187783545
|
0.00443
|
|
NM_002500.5(NEUROD1):c.-60G>A
|
rs189844846
|
0.00441
|
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
|
NM_016219.5(MAN1B1):c.1566+14C>T
|
rs201606936
|
0.00440
|
|
NM_000308.4(CTSA):c.*51C>G
|
rs375835315
|
0.00438
|
|
NM_000343.4(SLC5A1):c.*2275C>T
|
rs144145176
|
0.00438
|
|
NM_012434.5(SLC17A5):c.820-3C>T
|
rs12201641
|
0.00436
|
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
|
NM_006765.4(TUSC3):c.862+19G>A
|
rs144272482
|
0.00435
|
|
NM_175914.5(HNF4A):c.*2786C>T
|
rs113417800
|
0.00435
|
|
NM_000284.4(PDHA1):c.*1869G>C
|
rs15943
|
0.00434
|
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
|
NM_012434.5(SLC17A5):c.33C>T (p.Asn11=)
|
rs139255194
|
0.00433
|
|
NM_012203.2(GRHPR):c.493+27C>T
|
rs146896070
|
0.00432
|
|
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly)
|
rs146136907
|
0.00428
|
|
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp)
|
rs35836343
|
0.00427
|
|
NM_000352.4(ABCC8):c.-72G>A
|
rs541244107
|
0.00426
|
|
NM_001366110.1(PAX4):c.*190C>T
|
rs2233585
|
0.00426
|
|
NM_175914.5(HNF4A):c.669A>G (p.Leu223=)
|
rs139591750
|
0.00425
|
|
NM_002500.5(NEUROD1):c.*719G>A
|
rs184299700
|
0.00423
|
|
NM_000360.4(TH):c.*277G>A
|
rs3842725
|
0.00418
|
|
NM_000925.4(PDHB):c.303+16T>C
|
rs75014325
|
0.00417
|
|
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=)
|
rs62640003
|
0.00417
|
|
NM_175914.4(HNF4A):c.-278G>A
|
rs112444447
|
0.00417
|
|
NM_000208.4(INSR):c.870C>T (p.His290=)
|
rs74483718
|
0.00416
|
|
NM_001715.3(BLK):c.753A>G (p.Gln251=)
|
rs76563369
|
0.00416
|
|
NM_000545.8(HNF1A):c.326+6_326+10dup
|
rs56158114
|
0.00415
|
|
NM_002076.4(GNS):c.792+16A>G
|
rs148924072
|
0.00415
|
|
NM_005908.4(MANBA):c.*521G>A
|
rs138999320
|
0.00415
|
|
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00414
|
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
|
NM_002103.5(GYS1):c.*450G>A
|
rs3745693
|
0.00414
|
|
NM_000293.3(PHKB):c.*915G>A
|
rs151262633
|
0.00411
|
|
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=)
|
rs12000048
|
0.00411
|
|
NM_000154.2(GALK1):c.957G>A (p.Glu319=)
|
rs76160162
|
0.00410
|
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
|
NM_000030.3(AGXT):c.*19G>A
|
rs143458283
|
0.00409
|
|
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)
|
rs112249974
|
0.00409
|
|
NM_001715.2(BLK):c.-441C>A
|
rs142686759
|
0.00409
|
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
|
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)
|
rs35629953
|
0.00409
|
|
NM_175914.5(HNF4A):c.583-27G>A
|
rs113495257
|
0.00408
|
|
NM_000155.4(GALT):c.879C>T (p.Ser293=)
|
rs115527942
|
0.00407
|
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
|
NM_002294.3(LAMP2):c.1093+2514G>A
|
rs144140265
|
0.00404
|
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
|
NM_021957.4(GYS2):c.*458A>T
|
rs76993768
|
0.00403
|
|
NM_001366110.1(PAX4):c.*287C>T
|
rs12669223
|
0.00402
|
|
NM_000203.5(IDUA):c.1190-17_1190-16insA
|
rs201559436
|
0.00401
|
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
|
NM_001352514.2(HLCS):c.*1725A>G
|
rs73398120
|
0.00399
|
|
NM_001715.3(BLK):c.*338T>G
|
rs1042695
|
0.00399
|
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
|
NM_000404.4(GLB1):c.*182A>G
|
rs76762176
|
0.00393
|
|
NM_000340.2(SLC2A2):c.*796T>C
|
rs140738490
|
0.00392
|
|
NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)
|
rs150665851
|
0.00392
|
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
|
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val)
|
rs143520192
|
0.00392
|
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
|
NM_001041.4(SI):c.1212G>A (p.Ala404=)
|
rs142838612
|
0.00391
|
|
NM_000162.5(GCK):c.*92C>A
|
rs557990162
|
0.00389
|
|
NM_152419.3(HGSNAT):c.*2068A>G
|
rs141499920
|
0.00389
|
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
|
NM_001352514.2(HLCS):c.*3247A>G
|
rs114061673
|
0.00386
|
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
|
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=)
|
rs61737145
|
0.00384
|
|
NM_000642.3(AGL):c.3384G>A (p.Ala1128=)
|
rs149393587
|
0.00383
|
|
NM_002637.4(PHKA1):c.492C>T (p.Phe164=)
|
rs149354112
|
0.00383
|
|
NM_000290.4(PGAM2):c.375G>A (p.Pro125=)
|
rs145985559
|
0.00382
|
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
|
NM_000284.4(PDHA1):c.831+15C>T
|
rs190157093
|
0.00379
|
|
NM_000642.3(AGL):c.2883A>G (p.Arg961=)
|
rs113625417
|
0.00375
|
|
NM_002299.4(LCT):c.*10A>C
|
rs200994158
|
0.00375
|
|
NM_003619.4(PRSS12):c.2389C>T (p.Arg797Cys)
|
rs35996030
|
0.00375
|
|
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=)
|
rs148197254
|
0.00374
|
|
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=)
|
rs5405
|
0.00373
|
|
NM_003597.5(KLF11):c.*262C>T
|
rs147746428
|
0.00373
|
|
NM_000199.5(SGSH):c.249+25G>T
|
rs200104349
|
0.00372
|
|
NM_000202.8(IDS):c.754G>A (p.Asp252Asn)
|
rs146458524
|
0.00372
|
|
NM_004830.4(MED23):c.4080G>T (p.Val1360=)
|
rs138742804
|
0.00372
|
|
NM_000147.5(FUCA1):c.402G>C (p.Leu134Phe)
|
rs143691289
|
0.00371
|
|
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)
|
rs142928152
|
0.00371
|
|
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)
|
rs140673211
|
0.00371
|
|
NM_000027.4(AGA):c.*850C>T
|
rs149021855
|
0.00370
|
|
NM_000507.4(FBP1):c.865A>T (p.Met289Leu)
|
rs145771944
|
0.00369
|
|
NM_000154.2(GALK1):c.*32C>T
|
rs116845474
|
0.00367
|
|
NM_138413.4(HOGA1):c.700+7C>T
|
rs57616820
|
0.00367
|
|
NM_000293.3(PHKB):c.*989A>T
|
rs530003571
|
0.00366
|
|
NM_004130.4(GYG1):c.608+14G>C
|
rs200902926
|
0.00366
|
|
NM_006516.4(SLC2A1):c.*1587A>G
|
rs140560514
|
0.00366
|
|
NM_175914.5(HNF4A):c.696C>T (p.His232=)
|
rs150078978
|
0.00365
|
|
NM_000027.4(AGA):c.*718G>A
|
rs72988642
|
0.00364
|
|
NM_006569.6(CGREF1):c.*516C>T
|
rs114062151
|
0.00364
|
|
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)
|
rs140921822
|
0.00364
|
|
NM_152419.3(HGSNAT):c.*2341G>A
|
rs143662681
|
0.00364
|
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
|
NM_000027.4(AGA):c.902T>C (p.Phe301Ser)
|
rs35916166
|
0.00360
|
|
NM_000891.3(KCNJ2):c.*1350G>A
|
rs116077770
|
0.00360
|
|
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)
|
rs113641837
|
0.00359
|
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
|
NM_033159.4(HYAL1):c.323G>A (p.Arg108His)
|
rs56962018
|
0.00357
|
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
|
NM_144563.3(RPIA):c.*558G>A
|
rs140371867
|
0.00353
|
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
|
NM_001352514.2(HLCS):c.1002C>T (p.Ala334=)
|
rs116114362
|
0.00352
|
|
NM_198586.3(NHLRC1):c.*320G>A
|
rs79197160
|
0.00352
|
|
NM_000181.4(GUSB):c.216C>T (p.Gly72=)
|
rs77774169
|
0.00351
|
|
NM_000208.4(INSR):c.2193G>A (p.Thr731=)
|
rs6413501
|
0.00350
|
|
NM_000512.5(GALNS):c.-32C>T
|
rs556283159
|
0.00350
|
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
|
NM_000027.4(AGA):c.394+19_394+20del
|
rs575232762
|
0.00349
|
|
NM_002076.4(GNS):c.1026G>A (p.Gln342=)
|
rs115586725
|
0.00349
|
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
|
NM_000046.4(ARSB):c.-239T>A
|
rs115264286
|
0.00346
|
|
NM_002863.5(PYGL):c.424+6T>A
|
rs146741789
|
0.00346
|
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
|
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu)
|
rs7637863
|
0.00345
|
|
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=)
|
rs114484315
|
0.00344
|
|
NM_000108.5(DLD):c.1236+13A>G
|
rs2701026
|
0.00341
|
|
NM_000294.3(PHKG2):c.96-10G>T
|
rs74015042
|
0.00340
|
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
|
NM_175914.5(HNF4A):c.*1127T>C
|
rs757386171
|
0.00337
|
|
NM_175914.5(HNF4A):c.*2656G>A
|
rs146992858
|
0.00337
|
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
|
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr)
|
rs146681532
|
0.00336
|
|
NM_000151.4(G6PC1):c.*2975A>T
|
rs145828729
|
0.00335
|
|
NM_005271.5(GLUD1):c.*972G>A
|
rs12980
|
0.00335
|
|
NM_000046.5(ARSB):c.*2013G>A
|
rs113059935
|
0.00334
|
|
NM_000046.5(ARSB):c.*1146G>A
|
rs141001994
|
0.00333
|
|
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn)
|
rs149991825
|
0.00332
|
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00332
|
|
NM_000642.3(AGL):c.3260-20T>C
|
rs17121560
|
0.00332
|
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
|
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=)
|
rs75234317
|
0.00330
|
|
NM_020066.5(FMN2):c.5136T>G (p.Ser1712=)
|
rs143796494
|
0.00330
|
|
NM_000155.4(GALT):c.*105A>G
|
rs183251779
|
0.00329
|
|
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg)
|
rs1800202
|
0.00329
|
|
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=)
|
rs115889896
|
0.00329
|
|
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=)
|
rs202182837
|
0.00329
|
|
NM_016219.5(MAN1B1):c.1896+7A>G
|
rs143544706
|
0.00329
|
|
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)
|
rs149613968
|
0.00328
|
|
NM_000891.3(KCNJ2):c.*79C>T
|
rs55970278
|
0.00327
|
|
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=)
|
rs77684216
|
0.00327
|
|
NM_022895.3(C12orf43):c.*2747C>T
|
rs191295371
|
0.00327
|
|
NM_016219.5(MAN1B1):c.220-20A>C
|
rs116149955
|
0.00326
|
|
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=)
|
rs140781855
|
0.00325
|
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
|
NM_002637.4(PHKA1):c.-261C>A
|
rs782574152
|
0.00324
|
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
|
NM_016219.5(MAN1B1):c.1897-12G>A
|
rs76740252
|
0.00322
|
|
NM_000308.4(CTSA):c.1287G>A (p.Lys429=)
|
rs41282776
|
0.00321
|
|
NM_000152.5(GAA):c.1438-32G>A
|
rs199897967
|
0.00320
|
|
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn)
|
rs137852783
|
0.00320
|
|
NM_175914.4(HNF4A):c.-401G>A
|
rs537336047
|
0.00320
|
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
|
NM_001739.2(CA5A):c.340+20C>G
|
rs141166711
|
0.00319
|
|
NM_138413.4(HOGA1):c.*101C>T
|
rs41290458
|
0.00319
|
|
NM_012434.5(SLC17A5):c.*588G>A
|
rs533473425
|
0.00317
|
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
|
NM_002500.5(NEUROD1):c.*78C>T
|
rs41270211
|
0.00315
|
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
|
NM_152419.3(HGSNAT):c.*2740C>T
|
rs114940430
|
0.00314
|
|
NM_001352514.2(HLCS):c.1893-6C>T
|
rs139904712
|
0.00313
|
|
NM_002299.4(LCT):c.2763G>A (p.Ala921=)
|
rs116951780
|
0.00313
|
|
NM_000284.4(PDHA1):c.510+12C>T
|
rs201869402
|
0.00312
|
|
NM_001715.2(BLK):c.-304C>G
|
rs151046937
|
0.00312
|
|
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn)
|
rs142892564
|
0.00309
|
|
NM_003597.5(KLF11):c.*241A>G
|
rs191010106
|
0.00309
|
|
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)
|
rs149339002
|
0.00309
|
|
NM_002637.4(PHKA1):c.*231A>T
|
rs374264624
|
0.00308
|
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
|
NM_000343.4(SLC5A1):c.*703C>T
|
rs576036983
|
0.00305
|
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
|
NM_003597.5(KLF11):c.*980T>C
|
rs113527829
|
0.00303
|
|
NM_016219.5(MAN1B1):c.1065+16T>A
|
rs200957986
|
0.00303
|
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
|
NM_001715.3(BLK):c.187G>A (p.Val63Met)
|
rs138972988
|
0.00302
|
|
NM_001715.3(BLK):c.713G>A (p.Arg238Gln)
|
rs141865425
|
0.00300
|
|
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu)
|
rs35776173
|
0.00300
|
|
NM_003477.3(PDHX):c.*27A>C
|
rs74524673
|
0.00299
|
|
NM_000203.5(IDUA):c.1293C>T (p.Ala431=)
|
rs559676638
|
0.00298
|
|
NM_000154.2(GALK1):c.1107+5G>A
|
rs201663491
|
0.00297
|
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
|
NM_000292.3(PHKA2):c.2806+13C>A
|
rs186550641
|
0.00296
|
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
|
NM_198586.3(NHLRC1):c.*875T>C
|
rs72839174
|
0.00296
|
|
NM_000262.3(NAGA):c.25C>T (p.Leu9=)
|
rs147528904
|
0.00293
|
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
|
NM_001352514.2(HLCS):c.2451-19C>T
|
rs78671947
|
0.00290
|
|
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)
|
rs148946496
|
0.00289
|
|
NM_000298.6(PKLR):c.181C>T (p.Leu61=)
|
rs8177962
|
0.00289
|
|
NM_006488.3(KHK):c.811+5G>C
|
rs7578864
|
0.00289
|
|
NM_000294.3(PHKG2):c.927+17C>G
|
rs143558058
|
0.00288
|
|
NM_000035.4(ALDOB):c.*189C>T
|
rs185986022
|
0.00287
|
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
|
NM_000046.5(ARSB):c.*2707C>T
|
rs183918206
|
0.00285
|
|
NM_000035.4(ALDOB):c.*1119C>T
|
rs41296051
|
0.00284
|
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
|
NM_001008216.2(GALE):c.772C>T (p.Leu258=)
|
rs147618796
|
0.00283
|
|
NM_001008216.2(GALE):c.873+20C>T
|
rs141022680
|
0.00283
|
|
NM_002591.4(PCK1):c.864C>T (p.Cys288=)
|
rs61760966
|
0.00283
|
|
NM_024989.4(PGAP1):c.906T>C (p.Leu302=)
|
rs138525017
|
0.00283
|
|
NM_003041.4(SLC5A2):c.1665+13G>A
|
rs185753774
|
0.00282
|
|
NM_002299.4(LCT):c.1617C>T (p.Thr539=)
|
rs35476200
|
0.00281
|
|
NM_021957.4(GYS2):c.-240A>G
|
rs548363075
|
0.00281
|
|
NM_000512.5(GALNS):c.-54G>A
|
rs369448232
|
0.00280
|
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
|
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His)
|
rs139803629
|
0.00280
|
|
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=)
|
rs114079815
|
0.00280
|
|
NM_000891.3(KCNJ2):c.*2262C>T
|
rs575383136
|
0.00279
|
|
NM_002076.4(GNS):c.1113C>T (p.Asn371=)
|
rs116798538
|
0.00279
|
|
NM_000046.5(ARSB):c.*1153C>A
|
rs116753785
|
0.00278
|
|
NM_002591.4(PCK1):c.179T>C (p.Met60Thr)
|
rs28383586
|
0.00278
|
|
NM_006488.3(KHK):c.*27A>G
|
rs189674797
|
0.00278
|
|
NM_000343.4(SLC5A1):c.*1476A>G
|
rs190638859
|
0.00277
|
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
|
NM_006721.4(ADK):c.*740C>T
|
rs150465356
|
0.00276
|
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
|
NM_001365304.2(LOC112694756):c.*1740C>T
|
rs191226606
|
0.00274
|
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
|
NM_000545.8(HNF1A):c.276C>T (p.Leu92=)
|
rs34056805
|
0.00269
|
|
NM_053013.4(ENO3):c.1067+18C>T
|
rs191862496
|
0.00268
|
|
NM_000199.5(SGSH):c.*93A>G
|
rs111628992
|
0.00267
|
|
NM_000292.3(PHKA2):c.3282+13G>A
|
rs200925279
|
0.00267
|
|
NM_006516.4(SLC2A1):c.1296C>T (p.Tyr432=)
|
rs75485205
|
0.00267
|
|
NM_175914.5(HNF4A):c.*393G>A
|
rs190373692
|
0.00267
|
|
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile)
|
rs3213608
|
0.00266
|
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
|
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)
|
rs79002951
|
0.00265
|
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
|
NM_001040716.2(PC):c.321+5G>A
|
rs200766019
|
0.00264
|
|
NM_000263.3(NAGLU):c.-144G>A
|
rs538885425
|
0.00263
|
|
NM_002637.4(PHKA1):c.*804C>T
|
rs144538626
|
0.00263
|
|
NM_003051.4(SLC16A1):c.*1281T>G
|
rs184445532
|
0.00263
|
|
NM_000207.3(INS):c.188-10G>A
|
rs41275198
|
0.00262
|
|
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=)
|
rs371716153
|
0.00262
|
|
NM_002863.5(PYGL):c.1683C>T (p.Ser561=)
|
rs145471351
|
0.00262
|
|
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile)
|
rs2303708
|
0.00262
|
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00261
|
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
|
NM_001352514.2(HLCS):c.*19C>T
|
rs137949852
|
0.00259
|
|
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=)
|
rs144426409
|
0.00259
|
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
|
NM_000293.3(PHKB):c.1127-14A>G
|
rs185628131
|
0.00258
|
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
|
NM_175914.5(HNF4A):c.744C>T (p.Asp248=)
|
rs6031592
|
0.00257
|
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
|
NM_000027.4(AGA):c.*8T>C
|
rs112307209
|
0.00255
|
|
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys)
|
rs114543305
|
0.00255
|
|
NM_006721.4(ADK):c.66-24106T>C
|
rs192064997
|
0.00255
|
|
NM_000199.5(SGSH):c.*232T>C
|
rs113462619
|
0.00254
|
|
NM_001164277.2(SLC37A4):c.-42G>C
|
rs186567090
|
0.00253
|
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
|
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=)
|
rs61737297
|
0.00252
|
|
NM_000284.4(PDHA1):c.*1208A>C
|
rs369499936
|
0.00252
|
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
|
NM_002500.4(NEUROD1):c.*1595G>A
|
rs187310461
|
0.00252
|
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
|
NM_000181.4(GUSB):c.1752G>A (p.Glu584=)
|
rs141430018
|
0.00250
|
|
NM_033159.4(HYAL1):c.*173T>C
|
rs184872974
|
0.00250
|
|
NM_144563.3(RPIA):c.*241A>G
|
rs151226092
|
0.00250
|
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
|
NM_002294.3(LAMP2):c.*1356C>G
|
rs188897063
|
0.00249
|
|
NM_000046.5(ARSB):c.*2608G>A
|
rs569254528
|
0.00248
|
|
NM_000891.3(KCNJ2):c.*3163T>A
|
rs149224363
|
0.00248
|
|
NM_002294.3(LAMP2):c.*586A>G
|
rs41312757
|
0.00248
|
|
NM_000162.5(GCK):c.*356G>A
|
rs146107173
|
0.00247
|
|
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
|
rs145893756
|
0.00247
|
|
NM_002863.5(PYGL):c.611A>G (p.Tyr204Cys)
|
rs34096980
|
0.00245
|
|
NM_005908.4(MANBA):c.2136G>A (p.Ser712=)
|
rs149687835
|
0.00245
|
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
|
NM_001008216.2(GALE):c.912G>A (p.Val304=)
|
rs143694860
|
0.00244
|
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
|
NM_000365.6(TPI1):c.*549A>G
|
rs114310136
|
0.00243
|
|
NM_001041.4(SI):c.4275A>G (p.Thr1425=)
|
rs150151075
|
0.00243
|
|
NM_003477.3(PDHX):c.474G>A (p.Glu158=)
|
rs148723565
|
0.00243
|
|
NM_000108.5(DLD):c.507C>T (p.Gly169=)
|
rs144351432
|
0.00241
|
|
NM_000152.5(GAA):c.*521A>G
|
rs142506588
|
0.00241
|
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
|
NM_000030.3(AGXT):c.424-16G>A
|
rs74895925
|
0.00239
|
|
NM_000284.4(PDHA1):c.292-59C>T
|
rs186854596
|
0.00238
|
|
NM_000308.4(CTSA):c.105C>T (p.Ile35=)
|
rs150140984
|
0.00238
|
|
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)
|
rs73997615
|
0.00237
|
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
|
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala)
|
rs142034171
|
0.00237
|
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
|
NM_022895.3(C12orf43):c.*2956C>T
|
rs112986697
|
0.00237
|
|
NM_022895.3(C12orf43):c.*2053C>T
|
rs140584786
|
0.00236
|
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
|
NM_000030.3(AGXT):c.732C>A (p.Ile244=)
|
rs147106773
|
0.00234
|
|
NM_000293.3(PHKB):c.*590A>G
|
rs143720939
|
0.00234
|
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
|
NM_000030.3(AGXT):c.680+75G>A
|
rs117619103
|
0.00233
|
|
NM_000891.3(KCNJ2):c.*3208A>G
|
rs188533495
|
0.00233
|
|
NM_002076.4(GNS):c.*2735C>T
|
rs143396704
|
0.00233
|
|
NM_175914.5(HNF4A):c.*1078G>A
|
rs573432571
|
0.00233
|
|
NM_000030.3(AGXT):c.423+45T>G
|
rs117357855
|
0.00232
|
|
NM_000545.8(HNF1A):c.1425G>A (p.Pro475=)
|
rs145589373
|
0.00232
|
|
NM_001352514.2(HLCS):c.900G>A (p.Arg300=)
|
rs146019354
|
0.00232
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
|
NM_000545.5(HNF1A):c.-347G>A
|
rs76729898
|
0.00231
|
|
NM_000891.3(KCNJ2):c.*2893C>T
|
rs137870461
|
0.00231
|
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
|
NM_000030.3(AGXT):c.423+29C>T
|
rs117043148
|
0.00230
|
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
|
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=)
|
rs138435910
|
0.00230
|
|
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
|
rs549139396
|
0.00230
|
|
NM_000162.5(GCK):c.483+14A>G
|
rs74852379
|
0.00229
|
|
NM_000458.4(HNF1B):c.444G>A (p.Ser148=)
|
rs147218489
|
0.00228
|
|
NM_001370658.1(BTD):c.1002G>A (p.Thr334=)
|
rs148764524
|
0.00228
|
|
NM_000147.5(FUCA1):c.778G>A (p.Val260Ile)
|
rs665
|
0.00227
|
|
NM_006488.3(KHK):c.527G>A (p.Arg176Gln)
|
rs143669793
|
0.00227
|
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
|
NM_000151.4(G6PC1):c.*2418G>C
|
rs115371692
|
0.00224
|
|
NM_001715.3(BLK):c.116C>T (p.Pro39Leu)
|
rs142352008
|
0.00222
|
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
|
NM_001164277.2(SLC37A4):c.-573C>G
|
rs550169691
|
0.00220
|
|
NM_001366110.1(PAX4):c.599G>A (p.Arg200His)
|
rs2233580
|
0.00220
|
|
NM_003041.4(SLC5A2):c.*33C>G
|
rs199886583
|
0.00220
|
|
NM_175914.5(HNF4A):c.*568G>A
|
rs142417840
|
0.00220
|
|
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)
|
rs41302559
|
0.00218
|
|
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)
|
rs141733590
|
0.00217
|
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
|
NM_000925.4(PDHB):c.132T>C (p.Asp44=)
|
rs11542399
|
0.00216
|
|
NM_001366110.1(PAX4):c.456C>T (p.Val152=)
|
rs61749955
|
0.00216
|
|
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=)
|
rs61732499
|
0.00216
|
|
NM_000458.4(HNF1B):c.*659G>A
|
rs182736930
|
0.00215
|
|
NM_000545.8(HNF1A):c.252C>T (p.Pro84=)
|
rs78772552
|
0.00215
|
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
|
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=)
|
rs141112920
|
0.00215
|
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
|
NM_003051.4(SLC16A1):c.-92G>T
|
rs144301005
|
0.00214
|
|
NM_175914.5(HNF4A):c.*785G>A
|
rs557646293
|
0.00213
|
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
|
NM_000642.3(AGL):c.2546+10T>C
|
rs74551473
|
0.00212
|
|
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu)
|
rs72903215
|
0.00212
|
|
NM_001040716.2(PC):c.1608G>A (p.Pro536=)
|
rs139074169
|
0.00210
|
|
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=)
|
rs144271949
|
0.00210
|
|
NM_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
|
NM_000181.4(GUSB):c.1359G>A (p.Ala453=)
|
rs118066970
|
0.00208
|
|
NM_000284.4(PDHA1):c.*857A>G
|
rs182836908
|
0.00208
|
|
NM_002591.4(PCK1):c.843G>A (p.Ala281=)
|
rs28359546
|
0.00208
|
|
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter)
|
rs61752842
|
0.00208
|
|
NM_005271.5(GLUD1):c.*1282G>C
|
rs181931207
|
0.00208
|
|
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met)
|
rs117179004
|
0.00208
|
|
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=)
|
rs146631734
|
0.00207
|
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
|
NM_000293.3(PHKB):c.1446G>A (p.Arg482=)
|
rs149812232
|
0.00206
|
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
|
NM_006516.4(SLC2A1):c.*1588G>A
|
rs189700252
|
0.00206
|
|
NM_006721.4(ADK):c.*375A>G
|
rs185021662
|
0.00206
|
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
|
NM_001366110.1(PAX4):c.14-188del
|
rs533462973
|
0.00204
|
|
NM_000284.4(PDHA1):c.*864G>A
|
rs192450087
|
0.00203
|
|
NM_001008216.2(GALE):c.879G>A (p.Pro293=)
|
rs142332521
|
0.00203
|
|
NM_002300.8(LDHB):c.523A>G (p.Met175Val)
|
rs7966339
|
0.00203
|
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
|
NM_000263.3(NAGLU):c.-81C>T
|
rs189515084
|
0.00202
|
|
NM_175914.5(HNF4A):c.*1293C>T
|
rs182919150
|
0.00201
|
|
NM_198586.3(NHLRC1):c.*332G>T
|
rs140122442
|
0.00201
|
|
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln)
|
rs145641205
|
0.00200
|
|
NM_000545.5(HNF1A):c.-400C>T
|
rs77774709
|
0.00200
|
|
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
|
rs781949460
|
0.00200
|
|
NM_001739.2(CA5A):c.882G>A (p.Ala294=)
|
rs150891997
|
0.00200
|
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
|
NM_001041.4(SI):c.2395A>G (p.Ile799Val)
|
rs150246328
|
0.00198
|
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
|
NM_000181.4(GUSB):c.1041T>C (p.Gly347=)
|
rs141303888
|
0.00197
|
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
|
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
|
rs147437033
|
0.00195
|
|
NM_005908.4(MANBA):c.2416-9C>T
|
rs200835097
|
0.00195
|
|
NM_175914.5(HNF4A):c.*1095G>A
|
rs192208246
|
0.00195
|
|
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)
|
rs114440198
|
0.00194
|
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
|
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys)
|
rs147165298
|
0.00193
|
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
|
NM_000642.2(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
|
NM_021957.4(GYS2):c.421G>A (p.Gly141Ser)
|
rs149533049
|
0.00192
|
|
NM_001352514.2(HLCS):c.914C>T (p.Thr305Met)
|
rs112176097
|
0.00191
|
|
NM_175914.5(HNF4A):c.*76G>A
|
rs11574743
|
0.00191
|
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
|
NM_002299.4(LCT):c.4866+12C>T
|
rs191207394
|
0.00190
|
|
NM_053013.4(ENO3):c.828C>T (p.Leu276=)
|
rs35119507
|
0.00190
|
|
NM_003051.4(SLC16A1):c.*629C>T
|
rs540946001
|
0.00189
|
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
|
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln)
|
rs150096859
|
0.00188
|
|
NM_004130.4(GYG1):c.609G>A (p.Val203=)
|
rs75445811
|
0.00188
|
|
NM_000284.4(PDHA1):c.-98C>T
|
rs192773464
|
0.00187
|
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
|
NM_002294.3(LAMP2):c.*3494A>G
|
rs180681121
|
0.00187
|
|
NM_006859.4(LIAS):c.849C>T (p.Gly283=)
|
rs146030265
|
0.00187
|
|
NM_000046.5(ARSB):c.*994C>A
|
rs190632756
|
0.00186
|
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
|
NM_000181.4(GUSB):c.222C>T (p.Thr74=)
|
rs140016611
|
0.00185
|
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
|
NM_000352.4(ABCC8):c.-215_-214del
|
rs902564696
|
0.00185
|
|
NM_000284.4(PDHA1):c.511-54G>A
|
rs181933291
|
0.00184
|
|
NM_006488.3(KHK):c.*214G>A
|
rs183949231
|
0.00184
|
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
|
NM_000289.6(PFKM):c.1500+29C>T
|
rs138256599
|
0.00183
|
|
NM_001008216.2(GALE):c.237+11G>A
|
rs201276934
|
0.00183
|
|
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)
|
rs34305721
|
0.00181
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
|
NM_017755.6(NSUN2):c.-13G>C
|
rs558458633
|
0.00181
|
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
|
NM_021957.4(GYS2):c.*631del
|
rs576845625
|
0.00180
|
|
NM_002637.4(PHKA1):c.*500C>A
|
rs148465718
|
0.00179
|
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
|
NM_000202.8(IDS):c.418+12T>C
|
rs470986
|
0.00178
|
|
NM_002294.3(LAMP2):c.*3583A>G
|
rs144504054
|
0.00178
|
|
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)
|
rs148838160
|
0.00178
|
|
NM_002299.4(LCT):c.4576C>T (p.Leu1526=)
|
rs140074771
|
0.00178
|
|
NM_016042.4(EXOSC3):c.757A>G (p.Ile253Val)
|
rs62640004
|
0.00177
|
|
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys)
|
rs145521296
|
0.00177
|
|
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=)
|
rs182393180
|
0.00177
|
|
NM_000151.4(G6PC1):c.610G>T (p.Ala204Ser)
|
rs201961848
|
0.00176
|
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
|
NM_006516.4(SLC2A1):c.27G>A (p.Thr9=)
|
rs34025424
|
0.00176
|
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
|
NM_000434.4(NEU1):c.*445T>G
|
rs113824527
|
0.00175
|
|
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)
|
rs148108322
|
0.00175
|
|
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)
|
rs139290127
|
0.00175
|
|
NM_001739.2(CA5A):c.655A>G (p.Thr219Ala)
|
rs148496007
|
0.00175
|
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
|
NM_175914.5(HNF4A):c.*2006T>C
|
rs150112206
|
0.00175
|
|
NM_000035.4(ALDOB):c.*1003A>G
|
rs80292759
|
0.00174
|
|
NM_001715.3(BLK):c.711C>T (p.Pro237=)
|
rs143699141
|
0.00174
|
|
NM_003041.4(SLC5A2):c.*48G>A
|
rs184367787
|
0.00174
|
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
|
NM_005908.4(MANBA):c.1254C>G (p.Ala418=)
|
rs139157403
|
0.00173
|
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
|
NM_000199.5(SGSH):c.1337A>G (p.His446Arg)
|
rs148876719
|
0.00172
|
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
|
NM_000284.4(PDHA1):c.798A>G (p.Thr266=)
|
rs35752213
|
0.00170
|
|
NM_003597.5(KLF11):c.782C>T (p.Pro261Leu)
|
rs148123124
|
0.00170
|
|
NM_016219.5(MAN1B1):c.*393A>G
|
rs575316488
|
0.00170
|
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
|
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=)
|
rs116541276
|
0.00169
|
|
NM_000262.3(NAGA):c.*555C>T
|
rs141688392
|
0.00168
|
|
NM_002299.4(LCT):c.2457C>T (p.His819=)
|
rs149425549
|
0.00168
|
|
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
|
rs56082035
|
0.00167
|
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
|
NM_144563.3(RPIA):c.*256C>T
|
rs574766296
|
0.00167
|
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
|
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
|
rs10250779
|
0.00166
|
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
|
NM_000293.3(PHKB):c.1574C>A (p.Pro525His)
|
rs79509460
|
0.00165
|
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
|
NM_001352514.2(HLCS):c.1617G>A (p.Ala539=)
|
rs111603166
|
0.00164
|
|
NM_012434.5(SLC17A5):c.*1565C>T
|
rs543558815
|
0.00164
|
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
|
NM_002591.4(PCK1):c.141C>T (p.Asp47=)
|
rs45559338
|
0.00163
|
|
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys)
|
rs146238335
|
0.00163
|
|
NM_006516.4(SLC2A1):c.*626G>A
|
rs6413525
|
0.00163
|
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
|
NM_012434.5(SLC17A5):c.*1492C>G
|
rs148144074
|
0.00162
|
|
NM_021957.4(GYS2):c.1389T>C (p.Ile463=)
|
rs146434233
|
0.00162
|
|
NM_153281.2(HYAL1):c.-320_-319del
|
rs782640837
|
0.00162
|
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
|
NM_175914.5(HNF4A):c.*1783G>T
|
rs564110189
|
0.00161
|
|
NM_000108.5(DLD):c.338-18T>A
|
rs184851386
|
0.00160
|
|
NM_000199.5(SGSH):c.*657C>T
|
rs564023302
|
0.00160
|
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
|
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)
|
rs138358081
|
0.00160
|
|
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys)
|
rs146041189
|
0.00160
|
|
NM_001931.5(DLAT):c.570A>G (p.Gln190=)
|
rs143107853
|
0.00160
|
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
|
NM_017755.6(NSUN2):c.*17G>A
|
rs201903423
|
0.00160
|
|
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser)
|
rs138134718
|
0.00159
|
|
NM_017755.6(NSUN2):c.222C>T (p.Leu74=)
|
rs138716662
|
0.00159
|
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
|
NM_000891.3(KCNJ2):c.*2483G>A
|
rs559751598
|
0.00158
|
|
NM_001008216.2(GALE):c.709+18G>A
|
rs200584878
|
0.00158
|
|
NM_001040716.2(PC):c.1344G>A (p.Ala448=)
|
rs148281644
|
0.00158
|
|
NM_003597.5(KLF11):c.225C>T (p.Val75=)
|
rs144083374
|
0.00158
|
|
NM_080749.4(NEURL2):c.-43A>G
|
rs554749359
|
0.00158
|
|
NM_003597.5(KLF11):c.*2144C>T
|
rs139703378
|
0.00157
|
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
|
NM_000035.4(ALDOB):c.*152A>G
|
rs192418526
|
0.00156
|
|
NM_000203.5(IDUA):c.493+10C>T
|
rs200000194
|
0.00156
|
|
NM_001166290.2(KCNJ11):c.-17+514C>T
|
rs146464426
|
0.00156
|
|
NM_001370658.1(BTD):c.201C>T (p.Asn67=)
|
rs147057169
|
0.00156
|
|
NM_001543.5(NDST1):c.927A>G (p.Pro309=)
|
rs137903526
|
0.00156
|
|
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp)
|
rs149525864
|
0.00156
|
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
|
NM_005566.4(LDHA):c.-64T>C
|
rs200916427
|
0.00155
|
|
NM_006488.3(KHK):c.*596C>T
|
rs547856736
|
0.00155
|
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
|
NM_006488.3(KHK):c.*469G>A
|
rs187387157
|
0.00154
|
|
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)
|
rs191511427
|
0.00154
|
|
NM_000152.5(GAA):c.-116C>T
|
rs190152638
|
0.00153
|
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
|
NM_000404.4(GLB1):c.*423A>G
|
rs79603348
|
0.00153
|
|
NM_001040716.2(PC):c.2223+19C>T
|
rs45457699
|
0.00153
|
|
NM_005566.4(LDHA):c.*604A>T
|
rs148774730
|
0.00153
|
|
NM_031229.4(RBCK1):c.168-20G>T
|
rs149174797
|
0.00153
|
|
NM_001041.4(SI):c.1218C>T (p.Asn406=)
|
rs151296973
|
0.00152
|
|
NM_003597.5(KLF11):c.*2026G>C
|
rs146068438
|
0.00152
|
|
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
|
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=)
|
rs138866018
|
0.00151
|
|
NM_000642.3(AGL):c.3792A>T (p.Gly1264=)
|
rs148606237
|
0.00151
|
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
|
NM_002299.4(LCT):c.30T>C (p.Ile10=)
|
rs150024239
|
0.00150
|
|
NM_003477.3(PDHX):c.*331G>C
|
rs555691861
|
0.00150
|
|
NM_006488.3(KHK):c.790G>A (p.Val264Ile)
|
rs114353144
|
0.00150
|
|
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=)
|
rs138167675
|
0.00150
|
|
NM_001041.4(SI):c.4951G>A (p.Val1651Ile)
|
rs139876383
|
0.00149
|
|
NM_006859.4(LIAS):c.393+8C>A
|
rs201574806
|
0.00149
|
|
NM_012434.5(SLC17A5):c.*1155T>A
|
rs921762676
|
0.00149
|
|
NM_000147.5(FUCA1):c.389+14C>T
|
rs553138426
|
0.00148
|
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
|
NM_002299.4(LCT):c.3597G>A (p.Ala1199=)
|
rs79326512
|
0.00148
|
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
|
NM_024989.4(PGAP1):c.1351-16A>G
|
rs377329019
|
0.00148
|
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
|
NM_001040716.2(PC):c.951C>T (p.His317=)
|
rs142309583
|
0.00147
|
|
NM_003619.4(PRSS12):c.*574A>G
|
rs191638317
|
0.00147
|
|
NM_175914.5(HNF4A):c.*446G>A
|
rs548013860
|
0.00147
|
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
|
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn)
|
rs142656537
|
0.00146
|
|
NM_152419.3(HGSNAT):c.*3176G>A
|
rs138613130
|
0.00146
|
|
NM_000208.4(INSR):c.2682+9C>G
|
rs41398545
|
0.00145
|
|
NM_000291.4(PGK1):c.171G>A (p.Ser57=)
|
rs78165041
|
0.00145
|
|
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)
|
rs199927127
|
0.00145
|
|
NM_000891.3(KCNJ2):c.*732T>G
|
rs150985434
|
0.00145
|
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
|
NM_005609.4(PYGM):c.424+17G>A
|
rs202244109
|
0.00145
|
|
NM_000046.4(ARSB):c.-331G>A
|
rs538223324
|
0.00144
|
|
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)
|
rs147499593
|
0.00144
|
|
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser)
|
rs79474211
|
0.00144
|
|
NM_198586.3(NHLRC1):c.*326C>T
|
rs369668171
|
0.00144
|
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
|
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp)
|
rs74000629
|
0.00143
|
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
|
NM_012203.2(GRHPR):c.512G>A (p.Arg171His)
|
rs200106110
|
0.00143
|
|
NM_000262.3(NAGA):c.*1311T>C
|
rs185586436
|
0.00142
|
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
|
NM_000154.2(GALK1):c.611+18C>T
|
rs188851202
|
0.00140
|
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
|
NM_000891.3(KCNJ2):c.*210A>T
|
rs146282466
|
0.00140
|
|
NM_000891.3(KCNJ2):c.-314T>C
|
rs566186294
|
0.00140
|
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
|
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr)
|
rs549433538
|
0.00139
|
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
|
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=)
|
rs80358198
|
0.00136
|
|
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=)
|
rs139852230
|
0.00136
|
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
|
NM_000292.3(PHKA2):c.742A>C (p.Arg248=)
|
rs149219369
|
0.00135
|
|
NM_002299.4(LCT):c.1113G>A (p.Arg371=)
|
rs148142216
|
0.00135
|
|
NM_006488.3(KHK):c.820G>A (p.Val274Met)
|
rs138164728
|
0.00135
|
|
NM_016219.5(MAN1B1):c.272C>T (p.Ala91Val)
|
rs138411911
|
0.00135
|
|
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)
|
rs147529965
|
0.00135
|
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
|
NM_001370658.1(BTD):c.339G>A (p.Pro113=)
|
rs181743799
|
0.00133
|
|
NM_002863.5(PYGL):c.*78G>A
|
rs190588867
|
0.00133
|
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
|
NM_152419.3(HGSNAT):c.*871C>A
|
rs151315641
|
0.00133
|
|
NM_198586.3(NHLRC1):c.422T>C (p.Val141Ala)
|
rs143537405
|
0.00133
|
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
|
NM_000027.4(AGA):c.10A>C (p.Lys4Gln)
|
rs149092606
|
0.00131
|
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
|
NM_001366110.1(PAX4):c.636C>T (p.Asp212=)
|
rs141407429
|
0.00131
|
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
|
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)
|
rs118136428
|
0.00131
|
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
|
NM_024989.4(PGAP1):c.649+11T>A
|
rs181229301
|
0.00131
|
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
|
NM_000891.3(KCNJ2):c.*766C>T
|
rs186842823
|
0.00130
|
|
NM_000925.4(PDHB):c.198A>G (p.Ala66=)
|
rs138621975
|
0.00130
|
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
|
NM_001931.5(DLAT):c.1142A>G (p.Asp381Gly)
|
rs144235197
|
0.00129
|
|
NM_003051.4(SLC16A1):c.*948G>A
|
rs543171131
|
0.00129
|
|
NM_144563.3(RPIA):c.*783A>G
|
rs184672681
|
0.00129
|
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
|
NM_000352.6(ABCC8):c.1332+4del
|
rs587783164
|
0.00128
|
|
NM_003051.4(SLC16A1):c.*104C>T
|
rs182505461
|
0.00128
|
|
NM_004130.4(GYG1):c.98G>A (p.Arg33Lys)
|
rs146101365
|
0.00128
|
|
NM_053013.4(ENO3):c.1176+8T>C
|
rs111926990
|
0.00128
|
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
|
NM_000458.4(HNF1B):c.951C>G (p.Ala317=)
|
rs145750370
|
0.00127
|
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
|
NM_000151.4(G6PC1):c.*120G>A
|
rs150477898
|
0.00126
|
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
|
NM_000284.4(PDHA1):c.*549A>G
|
rs187525386
|
0.00126
|
|
NM_000292.3(PHKA2):c.1964-7A>G
|
rs376658808
|
0.00126
|
|
NM_000458.4(HNF1B):c.*683G>A
|
rs144234352
|
0.00126
|
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00126
|
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
|
NM_000642.3(AGL):c.1810T>G (p.Phe604Val)
|
rs138105395
|
0.00125
|
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
|
NM_000027.4(AGA):c.*882A>C
|
rs3749479
|
0.00124
|
|
NM_000151.4(G6PC1):c.*986A>T
|
rs370935410
|
0.00124
|
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
|
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)
|
rs2228067
|
0.00124
|
|
NM_001008216.2(GALE):c.873+13G>C
|
rs760941
|
0.00124
|
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
|
NM_000175.5(GPI):c.987C>T (p.Asn329=)
|
rs140676743
|
0.00123
|
|
NM_000340.2(SLC2A2):c.496+10A>T
|
rs5403
|
0.00123
|
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
|
NM_001040716.2(PC):c.*89G>A
|
rs186152567
|
0.00123
|
|
NM_020897.3(HCN3):c.*1042A>G
|
rs559809916
|
0.00122
|
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
|
NM_000340.2(SLC2A2):c.*1420T>C
|
rs182503337
|
0.00121
|
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
|
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
|
NM_002591.4(PCK1):c.*408T>G
|
rs139159526
|
0.00121
|
|
NM_005566.4(LDHA):c.*243C>G
|
rs76818137
|
0.00121
|
|
NM_021957.4(GYS2):c.-219T>G
|
rs184607089
|
0.00121
|
|
NM_000202.8(IDS):c.825C>T (p.Asp275=)
|
rs148038243
|
0.00120
|
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
|
NM_005609.4(PYGM):c.2109G>A (p.Glu703=)
|
rs200537357
|
0.00120
|
|
NM_000292.3(PHKA2):c.2956G>A (p.Glu986Lys)
|
rs144570979
|
0.00119
|
|
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
|
NM_000352.4(ABCC8):c.-215G>C
|
rs546148657
|
0.00119
|
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
|
NM_000181.4(GUSB):c.*94A>G
|
rs536903750
|
0.00118
|
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
|
NM_000512.5(GALNS):c.566+5T>C
|
rs3743545
|
0.00118
|
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
|
NM_000202.8(IDS):c.126C>T (p.Ile42=)
|
rs146963087
|
0.00117
|
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
|
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=)
|
rs147366495
|
0.00117
|
|
NM_001715.3(BLK):c.974A>C (p.Lys325Thr)
|
rs77401687
|
0.00117
|
|
NM_003597.5(KLF11):c.*738A>G
|
rs146942100
|
0.00117
|
|
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)
|
rs145603001
|
0.00116
|
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
|
NM_002637.4(PHKA1):c.864+11A>G
|
rs181490917
|
0.00116
|
|
NM_003619.4(PRSS12):c.645A>G (p.Gly215=)
|
rs140470579
|
0.00116
|
|
NM_003619.4(PRSS12):c.966C>T (p.Gly322=)
|
rs144866250
|
0.00116
|
|
NM_024989.4(PGAP1):c.1729-12G>A
|
rs75342998
|
0.00116
|
|
NM_152419.3(HGSNAT):c.*149G>T
|
rs191719106
|
0.00116
|
|
NM_000202.8(IDS):c.123C>G (p.Leu41=)
|
rs146904022
|
0.00115
|
|
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu)
|
rs193922358
|
0.00115
|
|
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=)
|
rs141034910
|
0.00115
|
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
|
NM_000525.4(KCNJ11):c.*862G>T
|
rs547635594
|
0.00115
|
|
NM_000545.6(HNF1A):c.-527C>T
|
rs3809315
|
0.00115
|
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
|
NM_002500.5(NEUROD1):c.*164_*165del
|
rs574102237
|
0.00115
|
|
NM_000046.3(ARSB):c.-726C>T
|
rs116419942
|
0.00114
|
|
NM_000284.4(PDHA1):c.*575T>C
|
rs191995452
|
0.00114
|
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
|
NM_000642.3(AGL):c.2949+20C>T
|
rs201729914
|
0.00114
|
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
|
NM_000154.2(GALK1):c.1167G>A (p.Val389=)
|
rs150586960
|
0.00113
|
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
|
NM_000284.4(PDHA1):c.*1297G>A
|
rs778678656
|
0.00112
|
|
NM_138413.4(HOGA1):c.*68C>T
|
rs551593998
|
0.00112
|
|
NM_000208.4(INSR):c.687C>T (p.Thr229=)
|
rs150568177
|
0.00111
|
|
NM_002299.4(LCT):c.*235C>T
|
rs116002539
|
0.00111
|
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
|
NM_006488.3(KHK):c.507C>T (p.Ser169=)
|
rs148222785
|
0.00111
|
|
NM_000284.4(PDHA1):c.*1345A>G
|
rs193253848
|
0.00110
|
|
NM_000642.3(AGL):c.*1766G>A
|
rs564167641
|
0.00110
|
|
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
|
rs150131334
|
0.00110
|
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
|
NM_004563.4(PCK2):c.1468+2T>C
|
rs148019349
|
0.00110
|
|
NM_000162.5(GCK):c.660C>T (p.Cys220=)
|
rs142952813
|
0.00109
|
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
|
NM_000343.4(SLC5A1):c.*1744G>A
|
rs376602365
|
0.00109
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
|
NM_000030.3(AGXT):c.573C>T (p.Thr191=)
|
rs146483092
|
0.00108
|
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
|
NM_001807.6(CEL):c.1716C>G (p.Pro572=)
|
rs200152972
|
0.00108
|
|
NM_002637.4(PHKA1):c.*553C>T
|
rs782055740
|
0.00108
|
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
|
NM_006488.3(KHK):c.189G>A (p.Met63Ile)
|
rs142663158
|
0.00108
|
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
|
NM_012096.3(APPL1):c.219T>C (p.Phe73=)
|
rs150282222
|
0.00108
|
|
NM_012203.2(GRHPR):c.598+145G>T
|
rs72739643
|
0.00108
|
|
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3])
|
rs755038966
|
0.00108
|
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
|
NM_002103.5(GYS1):c.234A>G (p.Glu78=)
|
rs146683677
|
0.00107
|
|
NM_000046.5(ARSB):c.456G>T (p.Arg152=)
|
rs140747158
|
0.00106
|
|
NM_000046.5(ARSB):c.903C>T (p.Asn301=)
|
rs147495977
|
0.00106
|
|
NM_000292.3(PHKA2):c.3336+17G>A
|
rs199840021
|
0.00106
|
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
|
NM_000434.4(NEU1):c.408G>A (p.Gly136=)
|
rs41267074
|
0.00106
|
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00106
|
|
NM_003619.4(PRSS12):c.821-1G>A
|
rs147303693
|
0.00106
|
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00106
|
|
NM_005908.4(MANBA):c.961G>T (p.Val321Phe)
|
rs145367849
|
0.00106
|
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
|
NM_001352514.2(HLCS):c.2121+11T>A
|
rs371974889
|
0.00105
|
|
NM_002591.4(PCK1):c.*363G>A
|
rs1297980275
|
0.00105
|
|
NM_000365.6(TPI1):c.321T>C (p.Asp107=)
|
rs141972556
|
0.00104
|
|
NM_000642.3(AGL):c.*1558T>C
|
rs773444393
|
0.00104
|
|
NM_001360016.2(G6PD):c.*520G>A
|
rs782764609
|
0.00104
|
|
NM_006516.4(SLC2A1):c.*346G>A
|
rs190760291
|
0.00104
|
|
NM_000035.4(ALDOB):c.324+8C>G
|
rs118168553
|
0.00103
|
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
|
NM_000545.8(HNF1A):c.1704C>T (p.Pro568=)
|
rs148520816
|
0.00103
|
|
NM_000545.8(HNF1A):c.1722C>A (p.Ser574Arg)
|
rs141304623
|
0.00103
|
|
NM_001040716.2(PC):c.1604-17G>A
|
rs79317761
|
0.00103
|
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
|
NM_001931.5(DLAT):c.628G>A (p.Ala210Thr)
|
rs140678772
|
0.00103
|
|
NM_006755.1(TALDO1):c.-30C>T
|
rs373293125
|
0.00103
|
|
NM_175914.5(HNF4A):c.*1013G>A
|
rs767537996
|
0.00103
|
|
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=)
|
rs148153758
|
0.00102
|
|
NM_000343.4(SLC5A1):c.*649G>A
|
rs544819758
|
0.00102
|
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
|
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)
|
rs11552146
|
0.00102
|
|
NM_006516.4(SLC2A1):c.507C>T (p.Leu169=)
|
rs115541691
|
0.00102
|
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
|
NM_000147.5(FUCA1):c.969+5G>C
|
rs115939152
|
0.00101
|
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
|
NM_175914.5(HNF4A):c.*3143G>T
|
rs535731605
|
0.00101
|
|
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu)
|
rs200444154
|
0.00100
|
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
|
NM_002500.4(NEUROD1):c.*1555C>T
|
rs192155087
|
0.00099
|
|
NM_018444.4(PDP1):c.*1649_*1650insG
|
rs886063184
|
0.00099
|
|
NM_175914.5(HNF4A):c.*277T>C
|
rs149998598
|
0.00099
|
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
|
NM_000035.4(ALDOB):c.*752C>G
|
rs555999328
|
0.00098
|
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
|
NM_000434.4(NEU1):c.*596G>T
|
rs749671704
|
0.00098
|
|
NM_000507.3(FBP1):c.-238G>A
|
rs974736435
|
0.00098
|
|
NM_002103.5(GYS1):c.*421A>G
|
rs181566066
|
0.00098
|
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
|
NM_002294.3(LAMP2):c.*4963del
|
rs754879365
|
0.00097
|
|
NM_000027.4(AGA):c.*852C>T
|
rs182081300
|
0.00096
|
|
NM_000162.5(GCK):c.*847G>A
|
rs76374134
|
0.00096
|
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
|
NM_003597.5(KLF11):c.*1608T>G
|
rs142746538
|
0.00096
|
|
NM_005908.4(MANBA):c.*437A>T
|
rs80064803
|
0.00096
|
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
|
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn)
|
rs782344973
|
0.00095
|
|
NM_006488.3(KHK):c.885T>C (p.Asp295=)
|
rs144476131
|
0.00095
|
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
|
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=)
|
rs148981522
|
0.00094
|
|
NM_006488.3(KHK):c.*505G>A
|
rs78939351
|
0.00094
|
|
NM_000152.5(GAA):c.*443G>A
|
rs147801821
|
0.00093
|
|
NM_000292.3(PHKA2):c.1042-17A>G
|
rs368817576
|
0.00093
|
|
NM_000293.3(PHKB):c.1458+16A>G
|
rs371140883
|
0.00093
|
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
|
NM_001360016.2(G6PD):c.1458-13C>G
|
rs371772243
|
0.00093
|
|
NM_003597.5(KLF11):c.486A>G (p.Pro162=)
|
rs146462049
|
0.00093
|
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
|
NM_198586.3(NHLRC1):c.*886G>A
|
rs146342540
|
0.00093
|
|
NM_000208.4(INSR):c.190T>C (p.Leu64=)
|
rs144836032
|
0.00092
|
|
NM_000284.4(PDHA1):c.*349A>G
|
rs1013526559
|
0.00092
|
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
|
NM_004130.4(GYG1):c.439A>G (p.Asn147Asp)
|
rs140175164
|
0.00092
|
|
NM_021957.4(GYS2):c.1701G>A (p.Leu567=)
|
rs78337075
|
0.00092
|
|
NM_031229.4(RBCK1):c.1030-18G>A
|
rs369024234
|
0.00092
|
|
NM_138413.4(HOGA1):c.*425T>C
|
rs189957405
|
0.00092
|
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
|
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr)
|
rs150145390
|
0.00091
|
|
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)
|
rs147120329
|
0.00091
|
|
NM_006755.2(TALDO1):c.36G>A (p.Glu12=)
|
rs150420496
|
0.00091
|
|
NM_000030.3(AGXT):c.166-56C>T
|
rs114401766
|
0.00090
|
|
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met)
|
rs147755711
|
0.00090
|
|
NM_000151.4(G6PC1):c.*1039G>T
|
rs549474805
|
0.00089
|
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
|
NM_000291.4(PGK1):c.909G>C (p.Val303=)
|
rs142525614
|
0.00089
|
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
|
NM_002591.4(PCK1):c.1152G>A (p.Thr384=)
|
rs141878699
|
0.00089
|
|
NM_002637.4(PHKA1):c.238-4G>A
|
rs782186877
|
0.00089
|
|
NM_005566.4(LDHA):c.*762T>G
|
rs189063205
|
0.00089
|
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
|
NM_000108.5(DLD):c.1464+11A>G
|
rs184949878
|
0.00088
|
|
NM_000108.5(DLD):c.583-3C>T
|
rs186031819
|
0.00088
|
|
NM_000151.4(G6PC1):c.*3G>A
|
rs191399793
|
0.00088
|
|
NM_000199.5(SGSH):c.303C>T (p.Phe101=)
|
rs150482611
|
0.00088
|
|
NM_000208.4(INSR):c.2793G>A (p.Ala931=)
|
rs111502197
|
0.00088
|
|
NM_000293.3(PHKB):c.2532G>A (p.Glu844=)
|
rs140117779
|
0.00088
|
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
|
NM_001040716.2(PC):c.3342G>A (p.Ala1114=)
|
rs141978731
|
0.00088
|
|
NM_001739.2(CA5A):c.214A>C (p.Arg72=)
|
rs150841082
|
0.00088
|
|
NM_002294.3(LAMP2):c.*853G>A
|
rs763861761
|
0.00088
|
|
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln)
|
rs34762805
|
0.00088
|
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
|
NM_006516.4(SLC2A1):c.680-12C>T
|
rs150960456
|
0.00088
|
|
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu)
|
rs141191327
|
0.00088
|
|
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)
|
rs147185003
|
0.00088
|
|
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile)
|
rs150662353
|
0.00088
|
|
NM_000027.4(AGA):c.*457A>G
|
rs3749478
|
0.00087
|
|
NM_000151.4(G6PC1):c.*1400G>A
|
rs113536060
|
0.00087
|
|
NM_000151.4(G6PC1):c.562+10G>A
|
rs199505156
|
0.00087
|
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
|
NM_000293.3(PHKB):c.*2075G>A
|
rs189124531
|
0.00087
|
|
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile)
|
rs56010117
|
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
|
|
NM_005609.4(PYGM):c.516C>T (p.Ser172=)
|
rs147402432
|
0.00087
|
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
|
NM_153281.2(HYAL1):c.-241C>A
|
rs12631938
|
0.00087
|
|
NM_175914.5(HNF4A):c.*3153C>A
|
rs569302875
|
0.00087
|
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
|
NM_000545.8(HNF1A):c.156C>T (p.Gly52=)
|
rs150195625
|
0.00086
|
|
NM_001040716.2(PC):c.52C>A (p.Arg18=)
|
rs144583275
|
0.00086
|
|
NM_001041.4(SI):c.*121C>T
|
rs530056606
|
0.00086
|
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
|
NM_002299.4(LCT):c.2883C>T (p.Ala961=)
|
rs140994860
|
0.00086
|
|
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)
|
rs121908936
|
0.00086
|
|
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)
|
rs138795531
|
0.00086
|
|
NM_003051.3(SLC16A1):c.-349G>A
|
rs750771668
|
0.00086
|
|
NM_006488.3(KHK):c.*259T>G
|
rs766868467
|
0.00086
|
|
NM_016203.4(PRKAG2):c.1584+7C>T
|
rs111627309
|
0.00086
|
|
NM_031229.4(RBCK1):c.1453-10C>T
|
rs112086441
|
0.00086
|
|
NM_000203.5(IDUA):c.1190-19G>C
|
rs1285206431
|
0.00085
|
|
NM_000291.4(PGK1):c.390G>A (p.Gly130=)
|
rs146350576
|
0.00085
|
|
NM_001366110.1(PAX4):c.69T>C (p.Pro23=)
|
rs116124047
|
0.00085
|
|
NM_001739.2(CA5A):c.555+12C>G
|
rs183776303
|
0.00085
|
|
NM_002299.4(LCT):c.4026G>A (p.Thr1342=)
|
rs150640616
|
0.00085
|
|
NM_003384.3(VRK1):c.286+12A>G
|
rs376603491
|
0.00085
|
|
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His)
|
rs145477274
|
0.00085
|
|
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg)
|
rs142381554
|
0.00084
|
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
|
NM_000199.5(SGSH):c.*378G>A
|
rs372712517
|
0.00083
|
|
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=)
|
rs144151433
|
0.00083
|
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
|
NM_000528.4(MAN2B1):c.*105C>G
|
rs547349667
|
0.00083
|
|
NM_000528.4(MAN2B1):c.1109+41C>A
|
rs200862799
|
0.00083
|
|
NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala)
|
rs142318174
|
0.00083
|
|
NM_001040716.2(PC):c.904-17C>T
|
rs199565222
|
0.00083
|
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
|
NM_002294.3(LAMP2):c.-33C>T
|
rs368403767
|
0.00083
|
|
NM_006516.4(SLC2A1):c.*571C>T
|
rs6413524
|
0.00083
|
|
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=)
|
rs144304981
|
0.00083
|
|
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val)
|
rs79970603
|
0.00082
|
|
NM_000152.5(GAA):c.1755-18T>C
|
rs201399518
|
0.00082
|
|
NM_000925.4(PDHB):c.288T>C (p.Ala96=)
|
rs138128142
|
0.00082
|
|
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys)
|
rs147495948
|
0.00082
|
|
NM_003477.3(PDHX):c.579A>G (p.Glu193=)
|
rs61752926
|
0.00082
|
|
NM_012203.2(GRHPR):c.234C>T (p.Ile78=)
|
rs143337459
|
0.00082
|
|
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
|
rs143176318
|
0.00082
|
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
|
NM_000292.3(PHKA2):c.3112-14T>C
|
rs371304628
|
0.00081
|
|
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=)
|
rs139136352
|
0.00081
|
|
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser)
|
rs61733910
|
0.00081
|
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
|
NM_000545.8(HNF1A):c.1107+9C>G
|
rs17847497
|
0.00081
|
|
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)
|
rs138996307
|
0.00081
|
|
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)
|
rs149783130
|
0.00081
|
|
NM_001360016.2(G6PD):c.311G>A (p.Arg104His)
|
rs181277621
|
0.00081
|
|
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=)
|
rs146650218
|
0.00081
|
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
|
NM_006516.4(SLC2A1):c.*22G>A
|
rs2229683
|
0.00081
|
|
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=)
|
rs2236574
|
0.00081
|
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
|
NM_031229.4(RBCK1):c.150C>T (p.Ser50=)
|
rs149008463
|
0.00081
|
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
|
NM_001366110.1(PAX4):c.144+16C>T
|
rs138902071
|
0.00080
|
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
|
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=)
|
rs200678234
|
0.00080
|
|
NM_000151.4(G6PC1):c.*2800G>A
|
rs886052967
|
0.00079
|
|
NM_001041.4(SI):c.825C>T (p.Tyr275=)
|
rs139867598
|
0.00079
|
|
NM_001807.6(CEL):c.1689A>G (p.Thr563=)
|
rs199941432
|
0.00079
|
|
NM_001807.6(CEL):c.1692G>T (p.Gly564=)
|
rs200716123
|
0.00079
|
|
NM_002076.4(GNS):c.1453C>G (p.Pro485Ala)
|
rs138790252
|
0.00079
|
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
|
NM_000202.8(IDS):c.1181-13C>T
|
rs188486717
|
0.00078
|
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
|
NM_000209.4(PDX1):c.165C>A (p.Gly55=)
|
rs530567443
|
0.00078
|
|
NM_000209.4(PDX1):c.6C>T (p.Asn2=)
|
rs146936598
|
0.00078
|
|
NM_000263.3(NAGLU):c.-167G>T
|
rs145830042
|
0.00078
|
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
|
NM_000507.4(FBP1):c.345G>A (p.Val115=)
|
rs61753273
|
0.00078
|
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
|
NM_012434.5(SLC17A5):c.*1533A>G
|
rs530389010
|
0.00078
|
|
NM_021957.4(GYS2):c.2072C>T (p.Pro691Leu)
|
rs144564037
|
0.00078
|
|
NM_152419.3(HGSNAT):c.*304C>A
|
rs752711559
|
0.00078
|
|
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439
|
0.00077
|
|
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)
|
rs141862527
|
0.00077
|
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
|
NM_001164277.2(SLC37A4):c.-700+9C>T
|
rs534659292
|
0.00077
|
|
NM_001931.5(DLAT):c.506+11C>T
|
rs77846695
|
0.00077
|
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
|
NM_000027.4(AGA):c.*96A>T
|
rs141424240
|
0.00076
|
|
NM_000262.3(NAGA):c.*107G>A
|
rs531819016
|
0.00076
|
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
|
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=)
|
rs150764699
|
0.00076
|
|
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=)
|
rs140794946
|
0.00076
|
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
|
NM_000365.6(TPI1):c.-31C>T
|
rs200692430
|
0.00076
|
|
NM_000512.5(GALNS):c.*523G>A
|
rs181174683
|
0.00076
|
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
|
NM_001807.6(CEL):c.554G>A (p.Arg185Gln)
|
rs141665160
|
0.00076
|
|
NM_002294.3(LAMP2):c.*1413A>G
|
rs773379092
|
0.00076
|
|
NM_005908.4(MANBA):c.2246T>A (p.Leu749His)
|
rs142248415
|
0.00076
|
|
NM_021957.4(GYS2):c.2068G>T (p.Val690Phe)
|
rs148461282
|
0.00076
|
|
NM_033159.4(HYAL1):c.*434C>T
|
rs182987423
|
0.00076
|
|
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)
|
rs143945974
|
0.00076
|
|
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met)
|
rs148176463
|
0.00075
|
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
|
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile)
|
rs140238609
|
0.00074
|
|
NM_000340.2(SLC2A2):c.*1207G>A
|
rs28579899
|
0.00074
|
|
NM_000528.4(MAN2B1):c.874C>T (p.Leu292=)
|
rs141077530
|
0.00074
|
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
|
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)
|
rs144792551
|
0.00074
|
|
NM_002076.4(GNS):c.*1681C>G
|
rs142676698
|
0.00074
|
|
NM_002294.3(LAMP2):c.*3488C>T
|
rs773236667
|
0.00074
|
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
|
NM_000046.5(ARSB):c.*1420G>A
|
rs79166190
|
0.00073
|
|
NM_000158.4(GBE1):c.*468G>A
|
rs750772386
|
0.00073
|
|
NM_000202.8(IDS):c.336C>T (p.His112=)
|
rs138687038
|
0.00073
|
|
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=)
|
rs139564374
|
0.00073
|
|
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)
|
rs201101662
|
0.00073
|
|
NM_001715.3(BLK):c.1338C>G (p.Arg446=)
|
rs377160616
|
0.00073
|
|
NM_001807.6(CEL):c.1335C>T (p.Pro445=)
|
rs371892814
|
0.00073
|
|
NM_000202.8(IDS):c.884A>G (p.Lys295Arg)
|
rs113993953
|
0.00072
|
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
|
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=)
|
rs147850230
|
0.00072
|
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
|
NM_001807.6(CEL):c.1485-8C>T
|
rs185188893
|
0.00072
|
|
NM_002863.5(PYGL):c.1981A>G (p.Thr661Ala)
|
rs142483613
|
0.00072
|
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
|
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)
|
rs150800688
|
0.00072
|
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
|
NM_000891.3(KCNJ2):c.*2277C>T
|
rs185701493
|
0.00071
|
|
NM_001365304.2(LOC112694756):c.*1134-20G>A
|
rs75559164
|
0.00071
|
|
NM_004130.4(GYG1):c.767A>C (p.Asn256Thr)
|
rs142869401
|
0.00071
|
|
NM_005566.4(LDHA):c.696G>C (p.Lys232Asn)
|
rs141158742
|
0.00071
|
|
NM_198586.3(NHLRC1):c.*720T>C
|
rs141863990
|
0.00071
|
|
NM_000030.3(AGXT):c.805C>T (p.Leu269=)
|
rs151131723
|
0.00070
|
|
NM_000046.5(ARSB):c.*965A>G
|
rs144818735
|
0.00070
|
|
NM_000294.3(PHKG2):c.-28G>T
|
rs556945561
|
0.00070
|
|
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)
|
rs150671256
|
0.00070
|
|
NM_001041.4(SI):c.876C>T (p.Phe292=)
|
rs139642816
|
0.00070
|
|
NM_002300.8(LDHB):c.621G>T (p.Val207=)
|
rs147896432
|
0.00070
|
|
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=)
|
rs13306758
|
0.00070
|
|
NM_031229.4(RBCK1):c.1257C>T (p.Ala419=)
|
rs151306710
|
0.00070
|
|
NM_152419.3(HGSNAT):c.*778T>C
|
rs557848863
|
0.00070
|
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
|
NM_000046.5(ARSB):c.*2243A>G
|
rs145585943
|
0.00069
|
|
NM_002637.4(PHKA1):c.*1275A>G
|
rs782306248
|
0.00069
|
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
|
NM_152419.3(HGSNAT):c.*772C>G
|
rs538483135
|
0.00069
|
|
NM_198586.3(NHLRC1):c.*442G>C
|
rs555214908
|
0.00069
|
|
NM_000158.4(GBE1):c.*555G>A
|
rs143820392
|
0.00068
|
|
NM_000284.4(PDHA1):c.*432C>T
|
rs754719295
|
0.00068
|
|
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser)
|
rs138395800
|
0.00068
|
|
NM_000434.4(NEU1):c.402C>T (p.Pro134=)
|
rs142833447
|
0.00068
|
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
|
NM_000642.3(AGL):c.*1610T>C
|
rs184983509
|
0.00068
|
|
NM_003477.3(PDHX):c.-23C>A
|
rs201033364
|
0.00068
|
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
|
NM_005609.4(PYGM):c.2112G>A (p.Ala704=)
|
rs61737361
|
0.00068
|
|
NM_005908.4(MANBA):c.*8T>G
|
rs199881261
|
0.00068
|
|
NM_006488.3(KHK):c.562G>A (p.Val188Met)
|
rs41288797
|
0.00068
|
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
|
NM_016042.4(EXOSC3):c.588T>C (p.Asp196=)
|
rs147568068
|
0.00068
|
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
|
NM_000891.3(KCNJ2):c.*1794C>A
|
rs55864879
|
0.00067
|
|
NM_002294.3(LAMP2):c.*3687T>C
|
rs185627568
|
0.00067
|
|
NM_012434.5(SLC17A5):c.*799T>C
|
rs529408804
|
0.00067
|
|
NM_021957.4(GYS2):c.304-17T>C
|
rs3765094
|
0.00067
|
|
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys)
|
rs140850172
|
0.00067
|
|
NM_000035.4(ALDOB):c.325-19T>G
|
rs200798661
|
0.00066
|
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
|
NM_000199.5(SGSH):c.1428C>T (p.His476=)
|
rs139460639
|
0.00066
|
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
|
NM_000404.4(GLB1):c.1833G>A (p.Ser611=)
|
rs201755284
|
0.00066
|
|
NM_001008216.2(GALE):c.*195T>C
|
rs78587342
|
0.00066
|
|
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
|
rs146830505
|
0.00066
|
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
|
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)
|
rs146467199
|
0.00066
|
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
|
NM_024989.4(PGAP1):c.1876T>C (p.Tyr626His)
|
rs150893861
|
0.00066
|
|
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser)
|
rs138951582
|
0.00066
|
|
NM_000162.5(GCK):c.-215A>G
|
rs13306390
|
0.00065
|
|
NM_000507.4(FBP1):c.745A>C (p.Met249Leu)
|
rs147392679
|
0.00065
|
|
NM_001040716.2(PC):c.2856C>T (p.Ile952=)
|
rs183661331
|
0.00065
|
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
|
NM_006516.4(SLC2A1):c.1437C>T (p.Pro479=)
|
rs146879902
|
0.00065
|
|
NM_000154.2(GALK1):c.611+9C>T
|
rs370204015
|
0.00064
|
|
NM_000262.3(NAGA):c.837C>A (p.Pro279=)
|
rs149066012
|
0.00064
|
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
|
NM_001041.4(SI):c.4541-18T>G
|
rs111418304
|
0.00064
|
|
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys)
|
rs146271483
|
0.00064
|
|
NM_016219.5(MAN1B1):c.1765-17C>T
|
rs569907992
|
0.00064
|
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
|
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)
|
rs150879765
|
0.00064
|
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
|
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
|
rs140709901
|
0.00063
|
|
NM_000202.8(IDS):c.396G>A (p.Ser132=)
|
rs147108245
|
0.00063
|
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
|
NM_000262.3(NAGA):c.760-7C>A
|
rs150693978
|
0.00063
|
|
NM_000263.3(NAGLU):c.-212G>C
|
rs538288877
|
0.00063
|
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
|
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=)
|
rs181021573
|
0.00063
|
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
|
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val)
|
rs201573707
|
0.00063
|
|
NM_002863.5(PYGL):c.1410G>C (p.Lys470Asn)
|
rs78433217
|
0.00063
|
|
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)
|
rs147697689
|
0.00063
|
|
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=)
|
rs145964630
|
0.00063
|
|
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu)
|
rs200505085
|
0.00063
|
|
NM_000158.4(GBE1):c.24G>A (p.Ala8=)
|
rs28763906
|
0.00062
|
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
|
NM_000289.6(PFKM):c.1004T>C (p.Val335Ala)
|
rs201838518
|
0.00062
|
|
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=)
|
rs147131392
|
0.00062
|
|
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
0.00062
|
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
|
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=)
|
rs145880201
|
0.00062
|
|
NM_000030.3(AGXT):c.*39G>A
|
rs369979466
|
0.00061
|
|
NM_000046.5(ARSB):c.570A>G (p.Thr190=)
|
rs148138805
|
0.00061
|
|
NM_000284.4(PDHA1):c.*321C>T
|
rs886566327
|
0.00061
|
|
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)
|
rs150318528
|
0.00061
|
|
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=)
|
rs146134171
|
0.00061
|
|
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile)
|
rs1800572
|
0.00061
|
|
NM_000352.5(ABCC8):c.*118A>G
|
rs142441893
|
0.00061
|
|
NM_000545.8(HNF1A):c.210C>T (p.Ser70=)
|
rs146686581
|
0.00061
|
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
|
NM_002076.4(GNS):c.*1861del
|
rs3832839
|
0.00061
|
|
NM_002103.5(GYS1):c.*357G>A
|
rs570639504
|
0.00061
|
|
NM_006516.4(SLC2A1):c.275+17C>T
|
rs761669510
|
0.00061
|
|
NM_016042.4(EXOSC3):c.219C>A (p.Arg73=)
|
rs149583035
|
0.00061
|
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
|
NM_000199.5(SGSH):c.324G>A (p.Pro108=)
|
rs147938702
|
0.00060
|
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
|
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=)
|
rs150520869
|
0.00060
|
|
NM_005327.7(HADH):c.710-845C>G
|
rs201019894
|
0.00060
|
|
NM_017721.5(CC2D1A):c.1399C>G (p.Pro467Ala)
|
rs199717745
|
0.00060
|
|
NM_152419.3(HGSNAT):c.*390G>A
|
rs541493842
|
0.00060
|
|
NM_000294.3(PHKG2):c.174A>T (p.Thr58=)
|
rs56207641
|
0.00059
|
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
|
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn)
|
rs141251024
|
0.00059
|
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
|
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)
|
rs73088796
|
0.00059
|
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
|
NM_000035.4(ALDOB):c.525C>T (p.Ala175=)
|
rs144196914
|
0.00058
|
|
NM_000154.2(GALK1):c.432C>T (p.Ser144=)
|
rs150323432
|
0.00058
|
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
|
NM_000208.4(INSR):c.2295C>T (p.Gly765=)
|
rs142654992
|
0.00058
|
|
NM_000284.4(PDHA1):c.604-10C>T
|
rs201754585
|
0.00058
|
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
|
NM_001008216.2(GALE):c.*178G>A
|
rs1803612
|
0.00058
|
|
NM_001040716.2(PC):c.216G>A (p.Thr72=)
|
rs117711892
|
0.00058
|
|
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)
|
rs142231603
|
0.00058
|
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
|
NM_013276.4(SHPK):c.355C>T (p.Arg119Ter)
|
rs144071313
|
0.00058
|
|
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)
|
rs35094617
|
0.00058
|
|
NM_138413.4(HOGA1):c.*950G>A
|
rs190392004
|
0.00058
|
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
|
NM_000158.4(GBE1):c.1237-18C>T
|
rs368966861
|
0.00057
|
|
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)
|
rs140564189
|
0.00057
|
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
|
NM_000642.2(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
|
NM_001715.3(BLK):c.223C>G (p.Arg75Gly)
|
rs149393791
|
0.00057
|
|
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)
|
rs145355418
|
0.00057
|
|
NM_006516.2(SLC2A1):c.-368A>C
|
rs528964239
|
0.00057
|
|
NM_000027.4(AGA):c.482G>A (p.Arg161Gln)
|
rs192195150
|
0.00056
|
|
NM_000152.5(GAA):c.1438-9G>A
|
rs202211401
|
0.00056
|
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
|
NM_000199.5(SGSH):c.507-7C>T
|
rs200965114
|
0.00056
|
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
|
NM_000343.3(SLC5A1):c.-60C>T
|
rs200410750
|
0.00056
|
|
NM_000352.4(ABCC8):c.-544G>A
|
rs184908312
|
0.00056
|
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
|
NM_000642.3(AGL):c.3084-8T>C
|
rs186402161
|
0.00056
|
|
NM_001041.4(SI):c.3466C>T (p.Leu1156=)
|
rs144285578
|
0.00056
|
|
NM_001041.4(SI):c.484-8C>G
|
rs201820421
|
0.00056
|
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
|
NM_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
|
NM_002500.4(NEUROD1):c.*1339T>C
|
rs17847284
|
0.00056
|
|
NM_002637.4(PHKA1):c.2918-4A>G
|
rs184136158
|
0.00056
|
|
NM_003051.4(SLC16A1):c.*1654A>G
|
rs761298128
|
0.00056
|
|
NM_003477.3(PDHX):c.161-6T>C
|
rs200438675
|
0.00056
|
|
NM_005908.4(MANBA):c.2014+14C>T
|
rs192469727
|
0.00056
|
|
NM_006488.3(KHK):c.*623G>A
|
rs192172107
|
0.00056
|
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
|
NM_021957.4(GYS2):c.1710T>C (p.Phe570=)
|
rs149907949
|
0.00056
|
|
NM_031229.4(RBCK1):c.1030-4G>A
|
rs149038161
|
0.00056
|
|
NM_138413.4(HOGA1):c.*292C>T
|
rs771988623
|
0.00056
|
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
|
NM_000152.5(GAA):c.858+8G>A
|
rs5822325
|
0.00055
|
|
NM_000202.8(IDS):c.781C>G (p.Pro261Ala)
|
rs141720810
|
0.00055
|
|
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)
|
rs145406549
|
0.00055
|
|
NM_002103.5(GYS1):c.1810-6C>T
|
rs112366219
|
0.00055
|
|
NM_002637.4(PHKA1):c.2229+15G>T
|
rs552106907
|
0.00055
|
|
NM_002863.5(PYGL):c.1827+11T>A
|
rs189147741
|
0.00055
|
|
NM_003597.5(KLF11):c.-83G>A
|
rs943136426
|
0.00055
|
|
NM_016203.4(PRKAG2):c.1106+9G>C
|
rs200429988
|
0.00055
|
|
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His)
|
rs201420492
|
0.00055
|
|
NM_138413.4(HOGA1):c.*850G>T
|
rs560555907
|
0.00055
|
|
NM_175914.5(HNF4A):c.*271C>T
|
rs11574745
|
0.00055
|
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
|
NM_001715.3(BLK):c.1302G>A (p.Val434=)
|
rs145686279
|
0.00054
|
|
NM_001931.5(DLAT):c.1677+8A>G
|
rs201994231
|
0.00054
|
|
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)
|
rs142951866
|
0.00054
|
|
NM_002299.4(LCT):c.1539G>A (p.Glu513=)
|
rs202186209
|
0.00054
|
|
NM_003597.5(KLF11):c.*2265T>A
|
rs757068768
|
0.00054
|
|
NM_005908.4(MANBA):c.2415+19G>A
|
rs148719555
|
0.00054
|
|
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)
|
rs200808372
|
0.00054
|
|
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser)
|
rs727504512
|
0.00054
|
|
NM_022895.3(C12orf43):c.*2022C>T
|
rs751401246
|
0.00054
|
|
NM_000151.4(G6PC1):c.*1986T>C
|
rs542411157
|
0.00053
|
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
|
NM_000343.4(SLC5A1):c.1359C>T (p.Phe453=)
|
rs139774349
|
0.00053
|
|
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
|
rs148182125
|
0.00053
|
|
NM_000642.3(AGL):c.*698A>G
|
rs537319413
|
0.00053
|
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
|
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)
|
rs143924570
|
0.00053
|
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
|
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)
|
rs148971334
|
0.00053
|
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
|
NM_012434.5(SLC17A5):c.*1630G>T
|
rs141885984
|
0.00053
|
|
NM_000046.5(ARSB):c.*3047T>C
|
rs560253823
|
0.00052
|
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
|
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu)
|
rs147959014
|
0.00052
|
|
NM_000343.4(SLC5A1):c.*400C>T
|
rs117362976
|
0.00052
|
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
|
NM_001040716.2(PC):c.2319C>T (p.His773=)
|
rs201257475
|
0.00052
|
|
NM_138413.4(HOGA1):c.*55T>C
|
rs763365957
|
0.00052
|
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
|
NM_000035.4(ALDOB):c.799+11C>T
|
rs182245025
|
0.00051
|
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
|
NM_000199.5(SGSH):c.*499C>T
|
rs886053555
|
0.00051
|
|
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)
|
rs146558295
|
0.00051
|
|
NM_000308.4(CTSA):c.564C>T (p.Ala188=)
|
rs149793498
|
0.00051
|
|
NM_000512.5(GALNS):c.*197C>T
|
rs187469283
|
0.00051
|
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00051
|
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
|
NM_000925.4(PDHB):c.701-3C>T
|
rs377063331
|
0.00051
|
|
NM_001040716.2(PC):c.2718+9G>A
|
rs201942341
|
0.00051
|
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
|
NM_001041.4(SI):c.2892G>A (p.Thr964=)
|
rs145486890
|
0.00051
|
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
|
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln)
|
rs115887120
|
0.00051
|
|
NM_001931.5(DLAT):c.1815-15T>C
|
rs192297571
|
0.00051
|
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)
|
rs149640294
|
0.00051
|
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
|
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)
|
rs200736454
|
0.00051
|
|
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)
|
rs149244771
|
0.00051
|
|
NR_184036.1(R3HDML-AS1):n.3A>G
|
rs377144780
|
0.00051
|
|
NM_000162.5(GCK):c.*510C>T
|
rs141645300
|
0.00050
|
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
|
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
|
rs149830613
|
0.00050
|
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
|
NM_001164277.2(SLC37A4):c.985+228C>G
|
rs201997939
|
0.00050
|
|
NM_001370658.1(BTD):c.825C>T (p.Asn275=)
|
rs145379955
|
0.00050
|
|
NM_002103.5(GYS1):c.492+9C>T
|
rs191213443
|
0.00050
|
|
NM_002500.5(NEUROD1):c.*253A>G
|
rs546609239
|
0.00050
|
|
NM_003477.3(PDHX):c.674C>T (p.Thr225Met)
|
rs148645836
|
0.00050
|
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
|
NM_000199.5(SGSH):c.746-16C>T
|
rs376577518
|
0.00049
|
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
|
NM_000642.3(AGL):c.3822C>T (p.Ile1274=)
|
rs143885684
|
0.00049
|
|
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=)
|
rs146330042
|
0.00049
|
|
NM_005327.4(HADH):c.-203A>G
|
rs376591232
|
0.00049
|
|
NM_012434.5(SLC17A5):c.1112-18A>G
|
rs751782561
|
0.00049
|
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
|
NM_031229.4(RBCK1):c.654G>A (p.Arg218=)
|
rs149541936
|
0.00049
|
|
NM_000046.5(ARSB):c.*810C>T
|
rs777160780
|
0.00048
|
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
|
NM_000262.3(NAGA):c.*176C>G
|
rs191051580
|
0.00048
|
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00048
|
|
NM_000293.3(PHKB):c.1803G>A (p.Ala601=)
|
rs35690654
|
0.00048
|
|
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
|
rs201360702
|
0.00048
|
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
|
NM_001014436.3(DBNL):c.*4099G>A
|
rs201133395
|
0.00048
|
|
NM_001041.4(SI):c.2343T>C (p.Tyr781=)
|
rs539868642
|
0.00048
|
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
|
NM_001931.5(DLAT):c.754C>T (p.Leu252=)
|
rs139194443
|
0.00048
|
|
NM_003051.4(SLC16A1):c.*516C>G
|
rs754537571
|
0.00048
|
|
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)
|
rs536012651
|
0.00048
|
|
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)
|
rs144431930
|
0.00048
|
|
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)
|
rs144787855
|
0.00048
|
|
NM_006859.4(LIAS):c.807G>A (p.Gln269=)
|
rs140846573
|
0.00048
|
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
|
NM_000208.4(INSR):c.41T>C (p.Leu14Pro)
|
rs745857330
|
0.00047
|
|
NM_000340.2(SLC2A2):c.*486T>C
|
rs566222124
|
0.00047
|
|
NM_000512.5(GALNS):c.*573A>G
|
rs551511278
|
0.00047
|
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
|
NM_001041.4(SI):c.2721T>C (p.Tyr907=)
|
rs140829463
|
0.00047
|
|
NM_001360016.2(G6PD):c.*75C>T
|
rs938857639
|
0.00047
|
|
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=)
|
rs143064948
|
0.00047
|
|
NM_006516.4(SLC2A1):c.864C>T (p.Asn288=)
|
rs150384629
|
0.00047
|
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
|
NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)
|
rs377605009
|
0.00047
|
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
|
NM_000046.5(ARSB):c.*2251G>A
|
rs532513960
|
0.00046
|
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
|
NM_000152.5(GAA):c.859-18G>A
|
rs377222482
|
0.00046
|
|
NM_000158.4(GBE1):c.1713C>T (p.Asp571=)
|
rs373148836
|
0.00046
|
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
|
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
|
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
|
NM_000545.8(HNF1A):c.1502-7C>T
|
rs193922581
|
0.00046
|
|
NM_001041.4(SI):c.3634-14A>T
|
rs199634091
|
0.00046
|
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
|
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)
|
rs143419532
|
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_001931.5(DLAT):c.1636A>G (p.Thr546Ala)
|
rs143152014
|
0.00046
|
|
NM_002863.5(PYGL):c.30G>A (p.Lys10=)
|
rs140912135
|
0.00046
|
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
|
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys)
|
rs142406504
|
0.00046
|
|
NM_022895.3(C12orf43):c.*1891G>A
|
rs568653423
|
0.00046
|
|
NM_024989.4(PGAP1):c.2647A>G (p.Thr883Ala)
|
rs139107571
|
0.00046
|
|
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
|
rs147678727
|
0.00046
|
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
|
NM_000181.4(GUSB):c.684C>A (p.Ile228=)
|
rs375590538
|
0.00045
|
|
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr)
|
rs144591812
|
0.00045
|
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00045
|
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
|
NM_001041.4(SI):c.1278+8T>G
|
rs368886500
|
0.00045
|
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
|
NM_002076.4(GNS):c.876-3C>T
|
rs73323465
|
0.00045
|
|
NM_002103.5(GYS1):c.-19C>A
|
rs2287753
|
0.00045
|
|
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr)
|
rs149276836
|
0.00045
|
|
NM_003597.5(KLF11):c.*612C>T
|
rs187519040
|
0.00045
|
|
NM_022895.3(C12orf43):c.*1649G>A
|
rs56335342
|
0.00045
|
|
NM_175914.5(HNF4A):c.999C>T (p.Ile333=)
|
rs150247632
|
0.00045
|
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
|
NM_000545.8(HNF1A):c.1309+187T>A
|
rs184963118
|
0.00044
|
|
NM_001041.4(SI):c.885T>C (p.Phe295=)
|
rs141754766
|
0.00044
|
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
|
NM_012434.5(SLC17A5):c.*762C>T
|
rs768718508
|
0.00044
|
|
NM_017755.6(NSUN2):c.258C>T (p.His86=)
|
rs141912087
|
0.00044
|
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
|
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)
|
rs150505248
|
0.00044
|
|
NM_031229.4(RBCK1):c.918-11C>T
|
rs369471646
|
0.00044
|
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
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_002076.4(GNS):c.117G>T (p.Gly39=)
|
rs371407400
|
0.00043
|
|
NM_002299.4(LCT):c.1461G>A (p.Ala487=)
|
rs146206234
|
0.00043
|
|
NM_002299.4(LCT):c.2760C>T (p.Gly920=)
|
rs200579267
|
0.00043
|
|
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)
|
rs140235265
|
0.00043
|
|
NM_016042.4(EXOSC3):c.123C>T (p.Asp41=)
|
rs147510873
|
0.00043
|
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
|
NM_024989.4(PGAP1):c.1220+19T>C
|
rs142559942
|
0.00043
|
|
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile)
|
rs146481462
|
0.00043
|
|
NM_175914.5(HNF4A):c.*7G>A
|
rs186057842
|
0.00043
|
|
NM_175914.5(HNF4A):c.138G>A (p.Thr46=)
|
rs145845882
|
0.00043
|
|
NM_000027.4(AGA):c.*752G>C
|
rs540646864
|
0.00042
|
|
NM_000155.3(GALT):c.-88G>A
|
rs144505931
|
0.00042
|
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
|
NM_003477.3(PDHX):c.*743G>A
|
rs577162977
|
0.00042
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
|
NM_024989.4(PGAP1):c.2286+20C>G
|
rs377640676
|
0.00042
|
|
NM_152419.3(HGSNAT):c.*3198G>A
|
rs576281567
|
0.00042
|
|
NM_000147.5(FUCA1):c.969+18T>A
|
rs140246387
|
0.00041
|
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
0.00041
|
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
|
NM_000525.4(KCNJ11):c.-546G>T
|
rs886048045
|
0.00041
|
|
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)
|
rs200413076
|
0.00041
|
|
NM_000528.4(MAN2B1):c.630+12G>C
|
rs368271384
|
0.00041
|
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
|
NM_001041.4(SI):c.2737G>T (p.Val913Phe)
|
rs200328496
|
0.00041
|
|
NM_001041.4(SI):c.4268-14T>C
|
rs201151548
|
0.00041
|
|
NM_001127628.2(FBP1):c.-24-321C>G
|
rs28382859
|
0.00041
|
|
NM_001160372.4(TRAPPC9):c.2557-14T>A
|
rs757482428
|
0.00041
|
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
|
NM_001370658.1(BTD):c.411C>T (p.Arg137=)
|
rs141240202
|
0.00041
|
|
NM_002076.4(GNS):c.*152G>A
|
rs768957003
|
0.00041
|
|
NM_002076.4(GNS):c.*357T>C
|
rs554471490
|
0.00041
|
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
|
NM_003051.3(SLC16A1):c.-248G>T
|
rs762453730
|
0.00041
|
|
NM_003597.5(KLF11):c.*756C>T
|
rs886054727
|
0.00041
|
|
NM_003619.4(PRSS12):c.*764A>G
|
rs11098431
|
0.00041
|
|
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
|
rs112622137
|
0.00041
|
|
NM_005566.4(LDHA):c.672G>A (p.Lys224=)
|
rs199918200
|
0.00041
|
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
|
NM_016203.4(PRKAG2):c.946+3A>G
|
rs376173303
|
0.00041
|
|
NM_017755.6(NSUN2):c.1226+4A>T
|
rs202085420
|
0.00041
|
|
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser)
|
rs147312612
|
0.00041
|
|
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser)
|
rs143804674
|
0.00041
|
|
NM_053013.4(ENO3):c.865+3G>A
|
rs147327991
|
0.00041
|
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
|
NM_000046.3(ARSB):c.-590A>T
|
rs138175832
|
0.00040
|
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
|
NM_000298.6(PKLR):c.1686C>T (p.Ser562=)
|
rs140859641
|
0.00040
|
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
|
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val)
|
rs140138702
|
0.00040
|
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
|
NM_001931.5(DLAT):c.382G>A (p.Val128Ile)
|
rs144677434
|
0.00040
|
|
NM_002294.3(LAMP2):c.*4757A>G
|
rs767652057
|
0.00040
|
|
NM_003477.3(PDHX):c.242-17C>T
|
rs188930453
|
0.00040
|
|
NM_003597.5(KLF11):c.1503G>A (p.Pro501=)
|
rs36091043
|
0.00040
|
|
NM_003619.4(PRSS12):c.*920G>C
|
rs567789007
|
0.00040
|
|
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys)
|
rs150289554
|
0.00040
|
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
|
NM_000262.3(NAGA):c.-394A>G
|
rs377708906
|
0.00039
|
|
NM_000262.3(NAGA):c.1146T>C (p.Asp382=)
|
rs6002590
|
0.00039
|
|
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu)
|
rs17856445
|
0.00039
|
|
NM_000340.2(SLC2A2):c.963+14C>T
|
rs189551647
|
0.00039
|
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
|
NM_001040716.2(PC):c.3258C>G (p.Ser1086=)
|
rs138238125
|
0.00039
|
|
NM_001041.4(SI):c.4451G>A (p.Arg1484His)
|
rs145246112
|
0.00039
|
|
NM_001164277.2(SLC37A4):c.*298C>T
|
rs886047745
|
0.00039
|
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
|
NM_002294.3(LAMP2):c.*4961A>G
|
rs765371462
|
0.00039
|
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
|
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
|
rs183103554
|
0.00039
|
|
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met)
|
rs138803748
|
0.00039
|
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
|
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly)
|
rs753349424
|
0.00039
|
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
|
NM_012434.4(SLC17A5):c.-107C>A
|
rs867617433
|
0.00039
|
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
|
NM_175914.5(HNF4A):c.*2153T>C
|
rs760628227
|
0.00039
|
|
NM_175914.5(HNF4A):c.921C>T (p.Asp307=)
|
rs151168174
|
0.00039
|
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
|
NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)
|
rs180177191
|
0.00038
|
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
|
NM_000152.5(GAA):c.600C>T (p.Val200=)
|
rs150895924
|
0.00038
|
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
|
NM_000162.5(GCK):c.*735C>A
|
rs556996030
|
0.00038
|
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
|
NM_000209.4(PDX1):c.336C>G (p.Pro112=)
|
rs149275902
|
0.00038
|
|
NM_000263.3(NAGLU):c.-271A>G
|
rs369458319
|
0.00038
|
|
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg)
|
rs201183167
|
0.00038
|
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
|
NM_000512.5(GALNS):c.252G>A (p.Ala84=)
|
rs377250967
|
0.00038
|
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
|
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)
|
rs148080695
|
0.00038
|
|
NM_000545.8(HNF1A):c.-5G>A
|
rs370979090
|
0.00038
|
|
NM_001014436.3(DBNL):c.*4668T>G
|
rs528717273
|
0.00038
|
|
NM_001040716.2(PC):c.2898+20G>A
|
rs144273133
|
0.00038
|
|
NM_001040716.2(PC):c.3147+15C>T
|
rs371879809
|
0.00038
|
|
NM_001041.4(SI):c.2789A>G (p.Gln930Arg)
|
rs150927256
|
0.00038
|
|
NM_001360016.2(G6PD):c.*281C>T
|
rs975719422
|
0.00038
|
|
NM_001807.6(CEL):c.777+7G>A
|
rs200749469
|
0.00038
|
|
NM_002500.5(NEUROD1):c.*1096T>C
|
rs188774781
|
0.00038
|
|
NM_003597.5(KLF11):c.-104C>T
|
rs886054718
|
0.00038
|
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
|
NM_005609.2(PYGM):c.-789T>C
|
rs143460923
|
0.00038
|
|
NM_006516.4(SLC2A1):c.*1337A>C
|
rs113441673
|
0.00038
|
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
|
NM_012434.5(SLC17A5):c.*174G>C
|
rs575300701
|
0.00038
|
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
|
NM_016219.5(MAN1B1):c.1287C>T (p.His429=)
|
rs145524720
|
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_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)
|
rs138667242
|
0.00038
|
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
|
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu)
|
rs150422575
|
0.00037
|
|
NM_000152.5(GAA):c.*64G>T
|
rs187532717
|
0.00037
|
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
|
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu)
|
rs377305989
|
0.00037
|
|
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)
|
rs150445034
|
0.00037
|
|
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
|
rs149983469
|
0.00037
|
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
|
NM_000642.3(AGL):c.*1581G>C
|
rs76338815
|
0.00037
|
|
NM_001039770.3(TMPPE):c.-500C>G
|
rs368944274
|
0.00037
|
|
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)
|
rs140140023
|
0.00037
|
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
0.00037
|
|
NM_002300.7(LDHB):c.-102C>A
|
rs542962114
|
0.00037
|
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
|
NM_024989.4(PGAP1):c.927+4T>C
|
rs201984003
|
0.00037
|
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
|
NM_000030.3(AGXT):c.777-17C>A
|
rs112319664
|
0.00036
|
|
NM_000151.4(G6PC1):c.558G>T (p.Leu186=)
|
rs141376085
|
0.00036
|
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
|
NM_000202.8(IDS):c.666C>T (p.Ala222=)
|
rs201588028
|
0.00036
|
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
|
NM_000284.4(PDHA1):c.899+12G>A
|
rs376730441
|
0.00036
|
|
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
|
rs141379798
|
0.00036
|
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
|
NM_000340.2(SLC2A2):c.*153A>G
|
rs530625053
|
0.00036
|
|
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser)
|
rs3745650
|
0.00036
|
|
NM_000545.8(HNF1A):c.336G>A (p.Pro112=)
|
rs371365341
|
0.00036
|
|
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)
|
rs200662873
|
0.00036
|
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
|
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)
|
rs138962514
|
0.00036
|
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
|
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
|
rs145448665
|
0.00036
|
|
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)
|
rs138752449
|
0.00036
|
|
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)
|
rs146445744
|
0.00036
|
|
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)
|
rs201953758
|
0.00036
|
|
NM_031229.4(RBCK1):c.246G>A (p.Ala82=)
|
rs148091459
|
0.00036
|
|
NM_000154.2(GALK1):c.794-17T>G
|
rs372098011
|
0.00035
|
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
|
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
|
rs529571746
|
0.00035
|
|
NM_000202.8(IDS):c.1074C>G (p.Pro358=)
|
rs61736891
|
0.00035
|
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
|
NM_000293.3(PHKB):c.*279C>T
|
rs140112731
|
0.00035
|
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
|
NM_000891.3(KCNJ2):c.*996C>T
|
rs77958248
|
0.00035
|
|
NM_002103.5(GYS1):c.213G>C (p.Gln71His)
|
rs200998100
|
0.00035
|
|
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)
|
rs151279562
|
0.00035
|
|
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu)
|
rs1349683999
|
0.00035
|
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
|
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser)
|
rs148791216
|
0.00035
|
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
|
NM_138413.4(HOGA1):c.*289C>T
|
rs540860054
|
0.00035
|
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
|
NM_175914.5(HNF4A):c.826+30dup
|
rs193922478
|
0.00035
|
|
NM_000027.4(AGA):c.*317T>C
|
rs143028069
|
0.00034
|
|
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
|
rs369967348
|
0.00034
|
|
NM_000147.5(FUCA1):c.502T>C (p.Leu168=)
|
rs147389792
|
0.00034
|
|
NM_000151.4(G6PC1):c.*1981C>T
|
rs573802724
|
0.00034
|
|
NM_000151.4(G6PC1):c.*24A>C
|
rs377739870
|
0.00034
|
|
NM_000151.4(G6PC1):c.*556C>T
|
rs533491939
|
0.00034
|
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
|
NM_000262.3(NAGA):c.*155A>G
|
rs761125179
|
0.00034
|
|
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
|
rs150235677
|
0.00034
|
|
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met)
|
rs142123423
|
0.00034
|
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
|
NM_000404.4(GLB1):c.397-5A>G
|
rs375046684
|
0.00034
|
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
|
NM_000512.5(GALNS):c.1364+8G>A
|
rs368171136
|
0.00034
|
|
NM_000512.5(GALNS):c.634-13G>A
|
rs372009899
|
0.00034
|
|
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)
|
rs374134161
|
0.00034
|
|
NM_000642.3(AGL):c.2088C>T (p.Ser696=)
|
rs144491501
|
0.00034
|
|
NM_000642.3(AGL):c.3589-19C>T
|
rs368244330
|
0.00034
|
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
|
NM_001160372.4(TRAPPC9):c.3055+11G>A
|
rs374709193
|
0.00034
|
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
|
NM_001715.3(BLK):c.*444C>A
|
rs376203568
|
0.00034
|
|
NM_001715.3(BLK):c.879C>T (p.His293=)
|
rs142623841
|
0.00034
|
|
NM_002299.4(LCT):c.3285C>T (p.His1095=)
|
rs372534937
|
0.00034
|
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
|
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)
|
rs149067043
|
0.00034
|
|
NM_006755.2(TALDO1):c.461+14C>T
|
rs373077928
|
0.00034
|
|
NM_016219.5(MAN1B1):c.*292G>A
|
rs145815566
|
0.00034
|
|
NM_017755.6(NSUN2):c.1602-14G>C
|
rs771558713
|
0.00034
|
|
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=)
|
rs139927561
|
0.00034
|
|
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg)
|
rs147407444
|
0.00034
|
|
NM_138413.4(HOGA1):c.701-18G>C
|
rs201596675
|
0.00034
|
|
NM_000030.3(AGXT):c.165+44T>A
|
rs58120546
|
0.00033
|
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
|
NM_000158.4(GBE1):c.859G>C (p.Val287Leu)
|
rs116899644
|
0.00033
|
|
NM_000263.3(NAGLU):c.-275T>C
|
rs567758523
|
0.00033
|
|
NM_000284.4(PDHA1):c.*729G>A
|
rs376808450
|
0.00033
|
|
NM_000528.4(MAN2B1):c.2691G>A (p.Pro897=)
|
rs149897798
|
0.00033
|
|
NM_000891.3(KCNJ2):c.*1125G>A
|
rs191729421
|
0.00033
|
|
NM_000891.3(KCNJ2):c.*35A>C
|
rs72552029
|
0.00033
|
|
NM_001041.4(SI):c.4268-12G>C
|
rs200234624
|
0.00033
|
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
|
NM_002500.5(NEUROD1):c.*283A>G
|
rs535699215
|
0.00033
|
|
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=)
|
rs115027760
|
0.00033
|
|
NM_003597.5(KLF11):c.-146C>T
|
rs886054717
|
0.00033
|
|
NM_006859.4(LIAS):c.944G>A (p.Arg315His)
|
rs145535775
|
0.00033
|
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
|
NM_017755.6(NSUN2):c.*389A>G
|
rs780214753
|
0.00033
|
|
NM_152419.2(HGSNAT):c.-37C>T
|
rs886062951
|
0.00033
|
|
NM_152419.3(HGSNAT):c.*2591G>A
|
rs760484403
|
0.00033
|
|
NM_152419.3(HGSNAT):c.*3086C>T
|
rs531967582
|
0.00033
|
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
|
NM_213606.4(SLC16A12):c.1217C>G (p.Ser406Cys)
|
rs145362501
|
0.00033
|
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
|
NM_000262.3(NAGA):c.*1555C>T
|
rs866446194
|
0.00032
|
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
|
NM_000284.4(PDHA1):c.252G>A (p.Gln84=)
|
rs144828838
|
0.00032
|
|
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)
|
rs140545494
|
0.00032
|
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
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_002076.4(GNS):c.*2301G>A
|
rs141182054
|
0.00032
|
|
NM_002103.5(GYS1):c.201G>A (p.Pro67=)
|
rs140201404
|
0.00032
|
|
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)
|
rs137986928
|
0.00032
|
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
|
NM_012434.5(SLC17A5):c.*550G>A
|
rs538417413
|
0.00032
|
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
|
NM_024989.4(PGAP1):c.2630+15T>C
|
rs375452864
|
0.00032
|
|
NM_152419.3(HGSNAT):c.*1251C>A
|
rs756060730
|
0.00032
|
|
NM_175914.5(HNF4A):c.*2992C>T
|
rs770250175
|
0.00032
|
|
NM_000151.4(G6PC1):c.340+20C>T
|
rs183285298
|
0.00031
|
|
NM_000152.5(GAA):c.2478G>A (p.Leu826=)
|
rs201183207
|
0.00031
|
|
NM_000158.4(GBE1):c.1080G>A (p.Thr360=)
|
rs200645261
|
0.00031
|
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
|
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
|
rs764961084
|
0.00031
|
|
NM_000294.3(PHKG2):c.*22C>T
|
rs372172604
|
0.00031
|
|
NM_000343.3(SLC5A1):c.-120C>T
|
rs886057399
|
0.00031
|
|
NM_000365.6(TPI1):c.*388C>T
|
rs540279409
|
0.00031
|
|
NM_000512.5(GALNS):c.*140C>A
|
rs557356503
|
0.00031
|
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
|
NM_001040716.2(PC):c.1551C>T (p.Pro517=)
|
rs140746469
|
0.00031
|
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
|
NM_002076.4(GNS):c.468C>T (p.Ala156=)
|
rs147780685
|
0.00031
|
|
NM_002294.3(LAMP2):c.*2148A>G
|
rs756504749
|
0.00031
|
|
NM_002863.5(PYGL):c.663G>A (p.Val221=)
|
rs370565099
|
0.00031
|
|
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
|
rs373902181
|
0.00031
|
|
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)
|
rs150246870
|
0.00031
|
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
|
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=)
|
rs146677360
|
0.00031
|
|
NM_005609.4(PYGM):c.1519-12G>A
|
rs373078258
|
0.00031
|
|
NM_005908.4(MANBA):c.792C>T (p.Tyr264=)
|
rs141619070
|
0.00031
|
|
NM_006516.4(SLC2A1):c.895G>A (p.Glu299Lys)
|
rs148518827
|
0.00031
|
|
NM_012203.2(GRHPR):c.*24G>A
|
rs202111075
|
0.00031
|
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
|
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)
|
rs140568381
|
0.00031
|
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
|
NM_024989.4(PGAP1):c.187G>A (p.Ala63Thr)
|
rs201585822
|
0.00031
|
|
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys)
|
rs201030033
|
0.00031
|
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
|
NM_138413.4(HOGA1):c.603+19G>A
|
rs370990433
|
0.00031
|
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
|
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr)
|
rs61747503
|
0.00031
|
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
|
NM_000308.4(CTSA):c.*266T>A
|
rs536094482
|
0.00030
|
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
|
NM_001352514.2(HLCS):c.1422A>G (p.Glu474=)
|
rs189674085
|
0.00030
|
|
NM_001360016.2(G6PD):c.*548C>T
|
rs181015082
|
0.00030
|
|
NM_005271.5(GLUD1):c.*1379C>T
|
rs181813972
|
0.00030
|
|
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)
|
rs376443152
|
0.00030
|
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
|
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
|
rs200214191
|
0.00030
|
|
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
|
rs369035792
|
0.00029
|
|
NM_000046.5(ARSB):c.*1610G>A
|
rs867100156
|
0.00029
|
|
NM_000046.5(ARSB):c.*166G>A
|
rs181321349
|
0.00029
|
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
|
NM_000147.4(FUCA1):c.-44G>A
|
rs139832548
|
0.00029
|
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
|
NM_000155.4(GALT):c.498T>C (p.Pro166=)
|
rs193922249
|
0.00029
|
|
NM_000158.4(GBE1):c.*466G>A
|
rs571158601
|
0.00029
|
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
|
NM_000175.5(GPI):c.317G>A (p.Arg106Gln)
|
rs143827313
|
0.00029
|
|
NM_000199.5(SGSH):c.*501C>T
|
rs377165572
|
0.00029
|
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
|
NM_000203.5(IDUA):c.666C>T (p.Gly222=)
|
rs200411359
|
0.00029
|
|
NM_000208.4(INSR):c.39G>C (p.Pro13=)
|
rs771984795
|
0.00029
|
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
|
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
|
rs139383341
|
0.00029
|
|
NM_000293.3(PHKB):c.2433T>G (p.Thr811=)
|
rs187940556
|
0.00029
|
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
|
NM_000458.4(HNF1B):c.*445A>G
|
rs571607314
|
0.00029
|
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
|
NM_000512.5(GALNS):c.412G>A (p.Val138Ile)
|
rs140018158
|
0.00029
|
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
|
NM_000545.5(HNF1A):c.-467C>T
|
rs1039479235
|
0.00029
|
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
|
NM_000925.4(PDHB):c.204+9A>C
|
rs202068841
|
0.00029
|
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
|
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)
|
rs199614710
|
0.00029
|
|
NM_001040716.2(PC):c.2577G>A (p.Ser859=)
|
rs199879375
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.2556+11A>G
|
rs201489589
|
0.00029
|
|
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)
|
rs34181302
|
0.00029
|
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
|
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=)
|
rs115207271
|
0.00029
|
|
NM_002591.4(PCK1):c.-40-14G>A
|
rs533125583
|
0.00029
|
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
|
NM_003384.3(VRK1):c.183A>C (p.Ser61=)
|
rs150196318
|
0.00029
|
|
NM_003597.5(KLF11):c.*2273C>T
|
rs534714754
|
0.00029
|
|
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)
|
rs200251957
|
0.00029
|
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
|
NM_006755.2(TALDO1):c.*30C>T
|
rs200971004
|
0.00029
|
|
NM_006765.4(TUSC3):c.768T>C (p.Tyr256=)
|
rs149033081
|
0.00029
|
|
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)
|
rs147353126
|
0.00029
|
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
|
NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)
|
rs146660038
|
0.00029
|
|
NM_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
|
NM_000027.4(AGA):c.*136T>C
|
rs184905324
|
0.00028
|
|
NM_000027.4(AGA):c.806+3A>G
|
rs368144874
|
0.00028
|
|
NM_000046.5(ARSB):c.*212A>G
|
rs561718720
|
0.00028
|
|
NM_000046.5(ARSB):c.*2559G>A
|
rs975658724
|
0.00028
|
|
NM_000293.3(PHKB):c.718G>A (p.Gly240Ser)
|
rs147426858
|
0.00028
|
|
NM_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
|
NM_000404.4(GLB1):c.1347+10G>A
|
rs199538100
|
0.00028
|
|
NM_000404.4(GLB1):c.31C>G (p.Leu11Val)
|
rs77988381
|
0.00028
|
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
|
NM_001040716.2(PC):c.1401C>T (p.Asn467=)
|
rs45623237
|
0.00028
|
|
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
|
rs142789249
|
0.00028
|
|
NM_001715.2(BLK):c.-209C>T
|
rs559867785
|
0.00028
|
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
|
NM_002591.4(PCK1):c.*365G>A
|
rs886056802
|
0.00028
|
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
|
NM_012203.2(GRHPR):c.387C>A (p.Ala129=)
|
rs529454212
|
0.00028
|
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
|
NM_022895.3(C12orf43):c.*1917C>T
|
rs1039799815
|
0.00028
|
|
NM_000046.5(ARSB):c.*1951A>G
|
rs149854678
|
0.00027
|
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
|
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
|
rs142046439
|
0.00027
|
|
NM_000512.5(GALNS):c.*29A>C
|
rs377151771
|
0.00027
|
|
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)
|
rs11554970
|
0.00027
|
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
|
NM_001040716.2(PC):c.*15G>A
|
rs45501894
|
0.00027
|
|
NM_002591.4(PCK1):c.954C>T (p.Asp318=)
|
rs147943264
|
0.00027
|
|
NM_002637.4(PHKA1):c.*1865G>T
|
rs782659275
|
0.00027
|
|
NM_002863.5(PYGL):c.1404-8A>G
|
rs374360647
|
0.00027
|
|
NM_002863.5(PYGL):c.1620+10C>G
|
rs367866027
|
0.00027
|
|
NM_002863.5(PYGL):c.1728A>G (p.Arg576=)
|
rs143287753
|
0.00027
|
|
NM_002863.5(PYGL):c.1824T>C (p.Gly608=)
|
rs141456201
|
0.00027
|
|
NM_002863.5(PYGL):c.1828-9T>A
|
rs372338710
|
0.00027
|
|
NM_002863.5(PYGL):c.1995G>A (p.Glu665=)
|
rs148777213
|
0.00027
|
|
NM_003051.4(SLC16A1):c.*1624A>G
|
rs140456426
|
0.00027
|
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
|
NM_152419.3(HGSNAT):c.1251-4C>T
|
rs374882647
|
0.00027
|
|
NM_000027.4(AGA):c.744C>T (p.Asp248=)
|
rs148052291
|
0.00026
|
|
NM_000151.4(G6PC1):c.*1970A>G
|
rs192778595
|
0.00026
|
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
|
NM_000152.5(GAA):c.*98A>T
|
rs886053548
|
0.00026
|
|
NM_000152.5(GAA):c.119G>A (p.Arg40Gln)
|
rs374476196
|
0.00026
|
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
|
NM_000154.2(GALK1):c.*85C>T
|
rs542735255
|
0.00026
|
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
|
NM_000155.4(GALT):c.253-5G>A
|
rs762136953
|
0.00026
|
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
|
NM_000263.4(NAGLU):c.764+10C>T
|
rs372400832
|
0.00026
|
|
NM_000284.4(PDHA1):c.117+19T>A
|
rs373859720
|
0.00026
|
|
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)
|
rs757654963
|
0.00026
|
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
|
NM_000291.4(PGK1):c.642-20A>C
|
rs201622343
|
0.00026
|
|
NM_000293.3(PHKB):c.2766-7G>A
|
rs199719186
|
0.00026
|
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
|
NM_000343.4(SLC5A1):c.*707G>A
|
rs886057409
|
0.00026
|
|
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
|
rs185126699
|
0.00026
|
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
|
NM_000434.4(NEU1):c.486C>T (p.Ala162=)
|
rs115588976
|
0.00026
|
|
NM_000458.4(HNF1B):c.*629C>T
|
rs566057658
|
0.00026
|
|
NM_000458.4(HNF1B):c.1207-18T>C
|
rs199849203
|
0.00026
|
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
|
NM_000642.3(AGL):c.854G>A (p.Arg285Gln)
|
rs144817648
|
0.00026
|
|
NM_000925.4(PDHB):c.97-5G>A
|
rs200429396
|
0.00026
|
|
NM_001040716.2(PC):c.-282G>A
|
rs886048558
|
0.00026
|
|
NM_001040716.2(PC):c.2325G>A (p.Thr775=)
|
rs371093155
|
0.00026
|
|
NM_001041.4(SI):c.322T>G (p.Phe108Val)
|
rs146006371
|
0.00026
|
|
NM_001041.4(SI):c.5367T>C (p.Tyr1789=)
|
rs144206255
|
0.00026
|
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
0.00026
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
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_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
|
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)
|
rs138195744
|
0.00026
|
|
NM_003597.5(KLF11):c.*216_*217insTT
|
rs1553314463
|
0.00026
|
|
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val)
|
rs146362932
|
0.00026
|
|
NM_004130.4(GYG1):c.60G>A (p.Leu20=)
|
rs145419359
|
0.00026
|
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
|
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=)
|
rs112434939
|
0.00026
|
|
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser)
|
rs138090529
|
0.00026
|
|
NM_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
|
NM_175914.5(HNF4A):c.*547G>A
|
rs1031904976
|
0.00026
|
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00025
|
|
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=)
|
rs139231189
|
0.00025
|
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
|
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)
|
rs191203702
|
0.00025
|
|
NM_000434.4(NEU1):c.-42T>C
|
rs373597058
|
0.00025
|
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
|
NM_000642.3(AGL):c.2219A>G (p.His740Arg)
|
rs562215810
|
0.00025
|
|
NM_000925.4(PDHB):c.564A>G (p.Lys188=)
|
rs146996786
|
0.00025
|
|
NM_001040716.2(PC):c.2748C>T (p.Asp916=)
|
rs149689543
|
0.00025
|
|
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val)
|
rs375300224
|
0.00025
|
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
0.00025
|
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
|
NM_001360016.2(G6PD):c.1052-4G>A
|
rs372124193
|
0.00025
|
|
NM_001365304.2(LOC112694756):c.*1309-20G>A
|
rs189723657
|
0.00025
|
|
NM_001366110.1(PAX4):c.14-182G>A
|
rs886061971
|
0.00025
|
|
NM_002076.4(GNS):c.*676A>G
|
rs886049769
|
0.00025
|
|
NM_002299.4(LCT):c.840C>T (p.Asn280=)
|
rs150722551
|
0.00025
|
|
NM_002591.4(PCK1):c.*357A>G
|
rs8122025
|
0.00025
|
|
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
|
rs139661242
|
0.00025
|
|
NM_004130.4(GYG1):c.348C>G (p.Asp116Glu)
|
rs978877121
|
0.00025
|
|
NM_005566.4(LDHA):c.*725T>G
|
rs753218262
|
0.00025
|
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
|
NM_006765.4(TUSC3):c.1028+11T>C
|
rs187670751
|
0.00025
|
|
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys)
|
rs369339903
|
0.00025
|
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
|
NM_152419.3(HGSNAT):c.*2266G>T
|
rs75120048
|
0.00025
|
|
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile)
|
rs142204928
|
0.00025
|
|
NM_000035.4(ALDOB):c.*849T>C
|
rs181650438
|
0.00024
|
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
|
NM_000284.4(PDHA1):c.-79C>T
|
rs942040058
|
0.00024
|
|
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)
|
rs137946010
|
0.00024
|
|
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
|
rs145047641
|
0.00024
|
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
0.00024
|
|
NM_000343.4(SLC5A1):c.1752T>G (p.Pro584=)
|
rs149362007
|
0.00024
|
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
|
NM_000512.5(GALNS):c.1002+18G>A
|
rs376019383
|
0.00024
|
|
NM_000528.4(MAN2B1):c.1419+16C>A
|
rs572897959
|
0.00024
|
|
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
|
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)
|
rs138877244
|
0.00024
|
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
|
NM_001041.4(SI):c.2301+20T>G
|
rs576773147
|
0.00024
|
|
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
0.00024
|
|
NM_001352514.2(HLCS):c.*1324T>C
|
rs141644229
|
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_001365304.2(LOC112694756):c.*1700C>T
|
rs886051897
|
0.00024
|
|
NM_001366110.1(PAX4):c.762C>T (p.Ile254=)
|
rs147670794
|
0.00024
|
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
|
NM_001715.3(BLK):c.368+13G>A
|
rs199644751
|
0.00024
|
|
NM_001715.3(BLK):c.980A>T (p.Asp327Val)
|
rs138333004
|
0.00024
|
|
NM_002076.4(GNS):c.*1759A>G
|
rs540594590
|
0.00024
|
|
NM_002076.4(GNS):c.*2099G>A
|
rs553360517
|
0.00024
|
|
NM_002294.3(LAMP2):c.*5172A>G
|
rs778592348
|
0.00024
|
|
NM_002294.3(LAMP2):c.741+11C>T
|
rs149155417
|
0.00024
|
|
NM_002637.4(PHKA1):c.*887A>G
|
rs1473576299
|
0.00024
|
|
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)
|
rs2228499
|
0.00024
|
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
|
NM_005609.4(PYGM):c.729C>T (p.Arg243=)
|
rs151160016
|
0.00024
|
|
NM_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
|
NM_012203.2(GRHPR):c.345A>T (p.Ala115=)
|
rs147053190
|
0.00024
|
|
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
|
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe)
|
rs202120724
|
0.00024
|
|
NM_016219.5(MAN1B1):c.1445+19C>T
|
rs374413288
|
0.00024
|
|
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)
|
rs144767615
|
0.00024
|
|
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)
|
rs199893133
|
0.00024
|
|
NM_033159.4(HYAL1):c.*459G>A
|
rs150976767
|
0.00024
|
|
NM_033159.4(HYAL1):c.141C>T (p.His47=)
|
rs147089930
|
0.00024
|
|
NM_152419.3(HGSNAT):c.*106G>A
|
rs186881132
|
0.00024
|
|
NM_175914.5(HNF4A):c.582+20G>C
|
rs370794722
|
0.00024
|
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
|
NM_000152.5(GAA):c.2040+17G>A
|
rs534129336
|
0.00023
|
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
|
NM_000175.5(GPI):c.1497C>T (p.Phe499=)
|
rs138799755
|
0.00023
|
|
NM_000199.5(SGSH):c.1050G>A (p.Pro350=)
|
rs373992449
|
0.00023
|
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
|
NM_000202.8(IDS):c.727C>T (p.Pro243Ser)
|
rs143474305
|
0.00023
|
|
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=)
|
rs369973813
|
0.00023
|
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
|
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=)
|
rs200550207
|
0.00023
|
|
NM_000293.3(PHKB):c.1797+8C>T
|
rs77462273
|
0.00023
|
|
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
|
rs142281844
|
0.00023
|
|
NM_000404.4(GLB1):c.234C>T (p.Asn78=)
|
rs368796666
|
0.00023
|
|
NM_001370658.1(BTD):c.430A>C (p.Arg144=)
|
rs556096072
|
0.00023
|
|
NM_001931.5(DLAT):c.1290+13C>T
|
rs781932978
|
0.00023
|
|
NM_002103.5(GYS1):c.*229C>T
|
rs920764718
|
0.00023
|
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
|
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)
|
rs201293992
|
0.00023
|
|
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser)
|
rs144897109
|
0.00023
|
|
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu)
|
rs201735305
|
0.00023
|
|
NM_003619.4(PRSS12):c.*1865T>C
|
rs183712097
|
0.00023
|
|
NM_004130.4(GYG1):c.1041T>A (p.Thr347=)
|
rs202027758
|
0.00023
|
|
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)
|
rs114730784
|
0.00023
|
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
|
NM_016203.4(PRKAG2):c.1585-4G>A
|
rs373649956
|
0.00023
|
|
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly)
|
rs187418052
|
0.00023
|
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
|
NM_000046.5(ARSB):c.185T>A (p.Phe62Tyr)
|
rs779228581
|
0.00022
|
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
|
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu)
|
rs138378067
|
0.00022
|
|
NM_000152.5(GAA):c.1599C>T (p.Cys533=)
|
rs142766716
|
0.00022
|
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
|
NM_000284.4(PDHA1):c.899+18G>A
|
rs370785632
|
0.00022
|
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
|
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)
|
rs140230479
|
0.00022
|
|
NM_000292.3(PHKA2):c.339C>T (p.His113=)
|
rs142799459
|
0.00022
|
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
|
NM_000458.4(HNF1B):c.852C>T (p.His284=)
|
rs149581999
|
0.00022
|
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
|
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)
|
rs200459772
|
0.00022
|
|
NM_000891.3(KCNJ2):c.*3536C>T
|
rs529969829
|
0.00022
|
|
NM_000891.3(KCNJ2):c.*3618A>G
|
rs530574251
|
0.00022
|
|
NM_000891.3(KCNJ2):c.-228C>T
|
rs765064661
|
0.00022
|
|
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)
|
rs111252736
|
0.00022
|
|
NM_001352514.2(HLCS):c.508G>A (p.Asp170Asn)
|
rs149822970
|
0.00022
|
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
|
NM_001715.3(BLK):c.1349G>A (p.Arg450His)
|
rs202162624
|
0.00022
|
|
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly)
|
rs183816843
|
0.00022
|
|
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser)
|
rs144739734
|
0.00022
|
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00022
|
|
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe)
|
rs61760967
|
0.00022
|
|
NM_002863.5(PYGL):c.743G>A (p.Arg248Gln)
|
rs776101957
|
0.00022
|
|
NM_003051.3(SLC16A1):c.-360G>A
|
rs758825428
|
0.00022
|
|
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)
|
rs560855452
|
0.00022
|
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
|
NM_005566.4(LDHA):c.*817A>C
|
rs527401531
|
0.00022
|
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
|
NM_006755.2(TALDO1):c.930C>T (p.Asp310=)
|
rs181385165
|
0.00022
|
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
|
NM_017755.6(NSUN2):c.486A>G (p.Glu162=)
|
rs147958833
|
0.00022
|
|
NM_021957.4(GYS2):c.*237T>C
|
rs886049154
|
0.00022
|
|
NM_022895.3(C12orf43):c.*2791G>A
|
rs547080919
|
0.00022
|
|
NM_053013.4(ENO3):c.154G>A (p.Gly52Arg)
|
rs757769893
|
0.00022
|
|
NM_152419.3(HGSNAT):c.468C>T (p.Asn156=)
|
rs376382820
|
0.00022
|
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
|
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg)
|
rs373330514
|
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_000147.5(FUCA1):c.339C>T (p.Arg113=)
|
rs558060888
|
0.00021
|
|
NM_000147.5(FUCA1):c.525-8T>G
|
rs41268125
|
0.00021
|
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
|
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr)
|
rs780064274
|
0.00021
|
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
|
NM_000202.8(IDS):c.849G>C (p.Val283=)
|
rs147374356
|
0.00021
|
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
|
NM_000262.3(NAGA):c.360G>A (p.Ala120=)
|
rs149600926
|
0.00021
|
|
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=)
|
rs143689867
|
0.00021
|
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
|
NM_000340.2(SLC2A2):c.-48G>A
|
rs372965718
|
0.00021
|
|
NM_000340.2(SLC2A2):c.588C>T (p.Ile196=)
|
rs374624284
|
0.00021
|
|
NM_000343.4(SLC5A1):c.*2251G>A
|
rs569361272
|
0.00021
|
|
NM_000404.4(GLB1):c.1641G>A (p.Thr547=)
|
rs370546368
|
0.00021
|
|
NM_000404.4(GLB1):c.75+2dup
|
rs587776525
|
0.00021
|
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
|
NM_000512.5(GALNS):c.756G>A (p.Gly252=)
|
rs146538873
|
0.00021
|
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
|
NM_000528.4(MAN2B1):c.*41C>T
|
rs371716069
|
0.00021
|
|
NM_000545.8(HNF1A):c.1386C>T (p.Val462=)
|
rs143015301
|
0.00021
|
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
|
NM_001040716.2(PC):c.*373C>T
|
rs189863040
|
0.00021
|
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
|
NM_001041.4(SI):c.1587G>A (p.Pro529=)
|
rs531422962
|
0.00021
|
|
NM_001715.3(BLK):c.424A>G (p.Ile142Val)
|
rs562247916
|
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_001931.5(DLAT):c.946C>T (p.Pro316Ser)
|
rs149088081
|
0.00021
|
|
NM_002299.4(LCT):c.2898C>A (p.Leu966=)
|
rs143975097
|
0.00021
|
|
NM_002299.4(LCT):c.4776C>T (p.Gly1592=)
|
rs183168007
|
0.00021
|
|
NM_002863.5(PYGL):c.364G>A (p.Glu122Lys)
|
rs144099482
|
0.00021
|
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
|
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)
|
rs554138665
|
0.00021
|
|
NM_003384.3(VRK1):c.1160G>A (p.Arg387His)
|
rs1420939606
|
0.00021
|
|
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)
|
rs147948716
|
0.00021
|
|
NM_003477.3(PDHX):c.542+10T>C
|
rs368960575
|
0.00021
|
|
NM_003597.5(KLF11):c.*1155G>A
|
rs886054729
|
0.00021
|
|
NM_003597.5(KLF11):c.*654C>T
|
rs144723641
|
0.00021
|
|
NM_004130.4(GYG1):c.829-13G>A
|
rs188887329
|
0.00021
|
|
NM_005271.5(GLUD1):c.150G>C (p.Arg50=)
|
rs746606279
|
0.00021
|
|
NM_005566.4(LDHA):c.777G>A (p.Leu259=)
|
rs137996815
|
0.00021
|
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
|
NM_006765.4(TUSC3):c.1029-8T>C
|
rs371128729
|
0.00021
|
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
|
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)
|
rs1055478673
|
0.00021
|
|
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)
|
rs139040517
|
0.00021
|
|
NM_024989.4(PGAP1):c.2150+9_2150+10insA
|
rs767941628
|
0.00021
|
|
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
|
rs141103742
|
0.00021
|
|
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr)
|
rs201630144
|
0.00021
|
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
|
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)
|
rs539307365
|
0.00021
|
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
|
NM_000147.5(FUCA1):c.*270T>C
|
rs143441916
|
0.00020
|
|
NM_000152.5(GAA):c.1888+10_1888+11insC
|
rs748036956
|
0.00020
|
|
NM_000152.5(GAA):c.2253C>T (p.Leu751=)
|
rs140441758
|
0.00020
|
|
NM_000152.5(GAA):c.2751C>T (p.Leu917=)
|
rs146507838
|
0.00020
|
|
NM_000154.2(GALK1):c.591C>T (p.His197=)
|
rs142992759
|
0.00020
|
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
|
NM_000292.3(PHKA2):c.295G>A (p.Val99Met)
|
rs200281934
|
0.00020
|
|
NM_000404.4(GLB1):c.1234-11T>A
|
rs145674318
|
0.00020
|
|
NM_000434.4(NEU1):c.*581G>A
|
rs551222239
|
0.00020
|
|
NM_000507.4(FBP1):c.141G>C (p.Ser47=)
|
rs148976582
|
0.00020
|
|
NM_000512.5(GALNS):c.1242+16C>T
|
rs373098107
|
0.00020
|
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
|
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=)
|
rs118028009
|
0.00020
|
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
|
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)
|
rs375113759
|
0.00020
|
|
NM_001360016.2(G6PD):c.486-14C>T
|
rs200833520
|
0.00020
|
|
NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)
|
rs183829292
|
0.00020
|
|
NM_002500.5(NEUROD1):c.*548T>A
|
rs886055324
|
0.00020
|
|
NM_002863.5(PYGL):c.2380-9T>C
|
rs368714229
|
0.00020
|
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
|
NM_006488.3(KHK):c.210-211C>T
|
rs141417422
|
0.00020
|
|
NM_013995.2(LAMP2):c.-136C>G
|
rs944875305
|
0.00020
|
|
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)
|
rs397517269
|
0.00020
|
|
NM_017755.6(NSUN2):c.*16C>T
|
rs368107079
|
0.00020
|
|
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp)
|
rs145706266
|
0.00020
|
|
NM_022895.3(C12orf43):c.*1796G>A
|
rs927067298
|
0.00020
|
|
NM_053013.4(ENO3):c.737T>C (p.Val246Ala)
|
rs200479387
|
0.00020
|
|
NM_198586.3(NHLRC1):c.*38G>T
|
rs377500729
|
0.00020
|
|
NM_000027.4(AGA):c.*219T>C
|
rs755458807
|
0.00019
|
|
NM_000027.4(AGA):c.286A>T (p.Thr96Ser)
|
rs184672077
|
0.00019
|
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
|
NM_000046.5(ARSB):c.*933C>T
|
rs924998163
|
0.00019
|
|
NM_000151.4(G6PC1):c.*17G>A
|
rs34537381
|
0.00019
|
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
|
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)
|
rs201166587
|
0.00019
|
|
NM_000181.3(GUSB):c.-50C>T
|
rs201504866
|
0.00019
|
|
NM_000199.5(SGSH):c.*890G>A
|
rs111726823
|
0.00019
|
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
|
NM_000202.8(IDS):c.104A>G (p.Asp35Gly)
|
rs144081417
|
0.00019
|
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
|
NM_000207.3(INS):c.17G>A (p.Arg6His)
|
rs121908259
|
0.00019
|
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
|
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730
|
0.00019
|
|
NM_000293.3(PHKB):c.*132G>A
|
rs375856403
|
0.00019
|
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
|
NM_000308.4(CTSA):c.1088+3G>A
|
rs372830379
|
0.00019
|
|
NM_000343.4(SLC5A1):c.*1312A>G
|
rs768251081
|
0.00019
|
|
NM_000343.4(SLC5A1):c.*1995T>C
|
rs999440734
|
0.00019
|
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
|
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)
|
rs193922403
|
0.00019
|
|
NM_000365.6(TPI1):c.116-12T>C
|
rs369077745
|
0.00019
|
|
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=)
|
rs144354798
|
0.00019
|
|
NM_000507.4(FBP1):c.818A>G (p.Asn273Ser)
|
rs143965326
|
0.00019
|
|
NM_000512.5(GALNS):c.*656T>C
|
rs763539126
|
0.00019
|
|
NM_000528.4(MAN2B1):c.1110-15C>T
|
rs202085731
|
0.00019
|
|
NM_000545.8(HNF1A):c.1623+23C>T
|
rs201167179
|
0.00019
|
|
NM_000545.8(HNF1A):c.1624-30C>T
|
rs563879035
|
0.00019
|
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00019
|
|
NM_000642.3(AGL):c.2163T>C (p.Tyr721=)
|
rs368162843
|
0.00019
|
|
NM_000642.3(AGL):c.4482-19T>G
|
rs370127763
|
0.00019
|
|
NM_001040716.2(PC):c.*353A>G
|
rs557595819
|
0.00019
|
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
|
NM_001040716.2(PC):c.1683G>A (p.Pro561=)
|
rs113071273
|
0.00019
|
|
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)
|
rs138760063
|
0.00019
|
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
|
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)
|
rs556583179
|
0.00019
|
|
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
|
rs144972103
|
0.00019
|
|
NM_001041.4(SI):c.3732C>T (p.Asp1244=)
|
rs200449490
|
0.00019
|
|
NM_001041.4(SI):c.4239C>T (p.Asp1413=)
|
rs138374817
|
0.00019
|
|
NM_001041.4(SI):c.556T>C (p.Ser186Pro)
|
rs142447888
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.-670C>T
|
rs886047754
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.1124+36C>G
|
rs547915912
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)
|
rs548684318
|
0.00019
|
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
|
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=)
|
rs772550893
|
0.00019
|
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
|
NM_001739.2(CA5A):c.690C>T (p.Tyr230=)
|
rs142006568
|
0.00019
|
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
|
NM_002863.5(PYGL):c.1656G>A (p.Thr552=)
|
rs376165151
|
0.00019
|
|
NM_003597.5(KLF11):c.*1658G>A
|
rs367805998
|
0.00019
|
|
NM_003597.5(KLF11):c.*674G>C
|
rs574996537
|
0.00019
|
|
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg)
|
rs142266428
|
0.00019
|
|
NM_003619.4(PRSS12):c.1490-15T>C
|
rs746343292
|
0.00019
|
|
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg)
|
rs139833696
|
0.00019
|
|
NM_004830.4(MED23):c.235C>T (p.Leu79Phe)
|
rs151031376
|
0.00019
|
|
NM_005609.4(PYGM):c.2220G>C (p.Arg740=)
|
rs533583089
|
0.00019
|
|
NM_006859.4(LIAS):c.297T>C (p.Asn99=)
|
rs144299903
|
0.00019
|
|
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)
|
rs528223406
|
0.00019
|
|
NM_012203.2(GRHPR):c.381G>A (p.Pro127=)
|
rs151336686
|
0.00019
|
|
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=)
|
rs397517263
|
0.00019
|
|
NM_016219.5(MAN1B1):c.15G>A (p.Glu5=)
|
rs371734726
|
0.00019
|
|
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)
|
rs140467698
|
0.00019
|
|
NM_020897.3(HCN3):c.*1243A>G
|
rs886045347
|
0.00019
|
|
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)
|
rs767667188
|
0.00019
|
|
NM_021957.4(GYS2):c.*654G>A
|
rs770305709
|
0.00019
|
|
NM_022895.3(C12orf43):c.*2514A>T
|
rs143731661
|
0.00019
|
|
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)
|
rs148349860
|
0.00019
|
|
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)
|
rs375115788
|
0.00019
|
|
NM_031229.4(RBCK1):c.461-4A>G
|
rs371854549
|
0.00019
|
|
NM_031229.4(RBCK1):c.531C>T (p.Val177=)
|
rs375018967
|
0.00019
|
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
|
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser)
|
rs767047161
|
0.00019
|
|
NM_152419.3(HGSNAT):c.*2538A>G
|
rs192349256
|
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_153281.2(HYAL1):c.-395G>A
|
rs886058699
|
0.00019
|
|
NM_153281.2(HYAL1):c.-89G>A
|
rs141540659
|
0.00019
|
|
NM_175914.5(HNF4A):c.*3013A>G
|
rs773868595
|
0.00019
|
|
NM_175914.5(HNF4A):c.576C>T (p.Asp192=)
|
rs759574096
|
0.00019
|
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
|
NM_000035.4(ALDOB):c.582T>C (p.Asp194=)
|
rs141988626
|
0.00018
|
|
NM_000046.5(ARSB):c.*1594C>A
|
rs188998831
|
0.00018
|
|
NM_000046.5(ARSB):c.*1729del
|
rs369595123
|
0.00018
|
|
NM_000108.5(DLD):c.282C>T (p.Asn94=)
|
rs144617361
|
0.00018
|
|
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=)
|
rs143991162
|
0.00018
|
|
NM_000152.5(GAA):c.*310C>T
|
rs550314730
|
0.00018
|
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
|
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu)
|
rs528369909
|
0.00018
|
|
NM_000154.2(GALK1):c.987G>A (p.Val329=)
|
rs184160171
|
0.00018
|
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
|
NM_000162.5(GCK):c.208+16C>T
|
rs377747439
|
0.00018
|
|
NM_000175.5(GPI):c.1270-9G>A
|
rs191051353
|
0.00018
|
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
|
NM_000284.4(PDHA1):c.*1306G>A
|
rs745566169
|
0.00018
|
|
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)
|
rs202166915
|
0.00018
|
|
NM_000289.6(PFKM):c.844-17T>A
|
rs372870462
|
0.00018
|
|
NM_000293.3(PHKB):c.*323G>C
|
rs886052024
|
0.00018
|
|
NM_000293.3(PHKB):c.1568T>C (p.Val523Ala)
|
rs774398701
|
0.00018
|
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
|
NM_000308.4(CTSA):c.1368C>G (p.Gly456=)
|
rs141528471
|
0.00018
|
|
NM_000340.2(SLC2A2):c.1077T>C (p.Leu359=)
|
rs5408
|
0.00018
|
|
NM_000365.6(TPI1):c.*178G>A
|
rs144171030
|
0.00018
|
|
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)
|
rs200050465
|
0.00018
|
|
NM_000434.4(NEU1):c.*524C>T
|
rs886061286
|
0.00018
|
|
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
|
rs202031547
|
0.00018
|
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
|
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)
|
rs141391488
|
0.00018
|
|
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=)
|
rs150866794
|
0.00018
|
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
|
NM_000891.3(KCNJ2):c.*1465A>G
|
rs183514608
|
0.00018
|
|
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)
|
rs375443860
|
0.00018
|
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
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_002103.5(GYS1):c.1512C>T (p.Val504=)
|
rs201028159
|
0.00018
|
|
NM_002294.3(LAMP2):c.*477T>C
|
rs750939378
|
0.00018
|
|
NM_002500.5(NEUROD1):c.*454C>T
|
rs923588837
|
0.00018
|
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
|
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln)
|
rs138640682
|
0.00018
|
|
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
|
NM_005609.4(PYGM):c.72C>T (p.Asn24=)
|
rs757114579
|
0.00018
|
|
NM_005908.4(MANBA):c.2633T>C (p.Ile878Thr)
|
rs145756079
|
0.00018
|
|
NM_006488.3(KHK):c.*326G>A
|
rs148558475
|
0.00018
|
|
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)
|
rs147961544
|
0.00018
|
|
NM_006765.4(TUSC3):c.568-15A>G
|
rs186717319
|
0.00018
|
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
|
NM_024989.4(PGAP1):c.310A>G (p.Ile104Val)
|
rs200242648
|
0.00018
|
|
NM_031229.4(RBCK1):c.-9C>A
|
rs140276089
|
0.00018
|
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
|
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)
|
rs118203943
|
0.00017
|
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
|
NM_000152.5(GAA):c.1848C>T (p.Asp616=)
|
rs377175810
|
0.00017
|
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
|
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu)
|
rs200746350
|
0.00017
|
|
NM_000162.5(GCK):c.-17C>T
|
rs190731555
|
0.00017
|
|
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
|
rs375940373
|
0.00017
|
|
NM_000181.4(GUSB):c.54C>T (p.Gly18=)
|
rs759514074
|
0.00017
|
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
|
NM_000203.5(IDUA):c.386-8T>C
|
rs199652725
|
0.00017
|
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
|
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
|
rs200080569
|
0.00017
|
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
|
NM_000293.3(PHKB):c.2445T>C (p.Phe815=)
|
rs61494991
|
0.00017
|
|
NM_000293.3(PHKB):c.2540C>T (p.Ala847Val)
|
rs374731360
|
0.00017
|
|
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)
|
rs538127151
|
0.00017
|
|
NM_000308.4(CTSA):c.603G>A (p.Gly201=)
|
rs1034687892
|
0.00017
|
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
|
NM_000545.8(HNF1A):c.1500C>T (p.His500=)
|
rs201694197
|
0.00017
|
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
|
NM_000891.3(KCNJ2):c.*108G>A
|
rs188588568
|
0.00017
|
|
NM_000925.4(PDHB):c.*201T>C
|
rs375277648
|
0.00017
|
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
|
NM_001360016.2(G6PD):c.*365G>A
|
rs1034742794
|
0.00017
|
|
NM_001360016.2(G6PD):c.381C>T (p.Ala127=)
|
rs781997962
|
0.00017
|
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
|
NM_001715.3(BLK):c.*209C>G
|
rs544690947
|
0.00017
|
|
NM_001807.6(CEL):c.1677T>C (p.Pro559=)
|
rs527908529
|
0.00017
|
|
NM_002591.4(PCK1):c.414C>A (p.Thr138=)
|
rs143220447
|
0.00017
|
|
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
|
rs140508520
|
0.00017
|
|
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)
|
rs75430333
|
0.00017
|
|
NM_003597.5(KLF11):c.*982G>A
|
rs550807244
|
0.00017
|
|
NM_003619.4(PRSS12):c.*1141T>C
|
rs574310044
|
0.00017
|
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
|
NM_005566.4(LDHA):c.594G>C (p.Val198=)
|
rs373534867
|
0.00017
|
|
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)
|
rs147023714
|
0.00017
|
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
|
NM_006488.3(KHK):c.48C>T (p.Val16=)
|
rs200769127
|
0.00017
|
|
NM_006516.4(SLC2A1):c.972+17T>A
|
rs202140308
|
0.00017
|
|
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)
|
rs573292460
|
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_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
|
NM_000030.3(AGXT):c.524+6C>A
|
rs770992934
|
0.00016
|
|
NM_000035.4(ALDOB):c.*286C>T
|
rs886063291
|
0.00016
|
|
NM_000046.5(ARSB):c.-15C>T
|
rs779990830
|
0.00016
|
|
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)
|
rs145553034
|
0.00016
|
|
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
|
rs201234153
|
0.00016
|
|
NM_000046.5(ARSB):c.312+4C>T
|
rs770927433
|
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_000152.5(GAA):c.2274C>T (p.Ala758=)
|
rs150431943
|
0.00016
|
|
NM_000152.5(GAA):c.2799+19G>A
|
rs558187268
|
0.00016
|
|
NM_000162.5(GCK):c.735G>A (p.Glu245=)
|
rs775481896
|
0.00016
|
|
NM_000181.4(GUSB):c.1020G>A (p.Gly340=)
|
rs372851133
|
0.00016
|
|
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
|
rs143040697
|
0.00016
|
|
NM_000181.4(GUSB):c.1329C>T (p.Val443=)
|
rs139776224
|
0.00016
|
|
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
|
rs138618819
|
0.00016
|
|
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys)
|
rs142248439
|
0.00016
|
|
NM_000202.8(IDS):c.41G>A (p.Gly14Asp)
|
rs373389352
|
0.00016
|
|
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
|
rs1462850727
|
0.00016
|
|
NM_000203.5(IDUA):c.1403-14G>T
|
rs368368416
|
0.00016
|
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
|
NM_000209.4(PDX1):c.210G>T (p.Val70=)
|
rs748725637
|
0.00016
|
|
NM_000209.4(PDX1):c.732C>G (p.Pro244=)
|
rs777512281
|
0.00016
|
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
|
NM_000284.4(PDHA1):c.*1458C>T
|
rs923765752
|
0.00016
|
|
NM_000293.3(PHKB):c.1609-20T>C
|
rs374125947
|
0.00016
|
|
NM_000293.3(PHKB):c.2766-8T>C
|
rs186710481
|
0.00016
|
|
NM_000308.3(CTSA):c.-52G>A
|
rs373024722
|
0.00016
|
|
NM_000308.4(CTSA):c.*50C>T
|
rs370691011
|
0.00016
|
|
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe)
|
rs138615064
|
0.00016
|
|
NM_000343.4(SLC5A1):c.*1237A>G
|
rs368732312
|
0.00016
|
|
NM_000343.4(SLC5A1):c.208-8G>A
|
rs199783226
|
0.00016
|
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
0.00016
|
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
|
NM_000434.4(NEU1):c.*454A>G
|
rs886061287
|
0.00016
|
|
NM_000458.4(HNF1B):c.*403A>G
|
rs557216745
|
0.00016
|
|
NM_000525.4(KCNJ11):c.*546G>A
|
rs886048037
|
0.00016
|
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
|
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His)
|
rs202174515
|
0.00016
|
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
0.00016
|
|
NM_000642.3(AGL):c.3700+14A>G
|
rs368141566
|
0.00016
|
|
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg)
|
rs41285740
|
0.00016
|
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
|
NM_000925.4(PDHB):c.150T>C (p.Asp50=)
|
rs367846961
|
0.00016
|
|
NM_001014436.3(DBNL):c.*1813T>C
|
rs374509693
|
0.00016
|
|
NM_001014436.3(DBNL):c.*4645dup
|
rs554686318
|
0.00016
|
|
NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser)
|
rs149958643
|
0.00016
|
|
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala)
|
rs199969388
|
0.00016
|
|
NM_001040716.2(PC):c.1716C>T (p.Asp572=)
|
rs577570512
|
0.00016
|
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
|
NM_001041.4(SI):c.5245C>A (p.Gln1749Lys)
|
rs187532711
|
0.00016
|
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
|
NM_001715.3(BLK):c.93A>G (p.Gln31=)
|
rs369109733
|
0.00016
|
|
NM_001739.2(CA5A):c.258C>T (p.Ser86=)
|
rs145171357
|
0.00016
|
|
NM_001931.5(DLAT):c.1476C>T (p.Pro492=)
|
rs370501604
|
0.00016
|
|
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)
|
rs200500508
|
0.00016
|
|
NM_001931.5(DLAT):c.828G>T (p.Leu276=)
|
rs199835215
|
0.00016
|
|
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
|
rs759075764
|
0.00016
|
|
NM_002103.5(GYS1):c.1810-19C>A
|
rs367581750
|
0.00016
|
|
NM_002103.5(GYS1):c.255G>A (p.Pro85=)
|
rs146417520
|
0.00016
|
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00016
|
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
|
NM_003384.3(VRK1):c.710-13C>T
|
rs374386994
|
0.00016
|
|
NM_003384.3(VRK1):c.810T>C (p.Tyr270=)
|
rs943810223
|
0.00016
|
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
|
NM_003597.5(KLF11):c.*956C>T
|
rs149067484
|
0.00016
|
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
|
NM_004130.4(GYG1):c.143+3G>C
|
rs370652040
|
0.00016
|
|
NM_004130.4(GYG1):c.601T>G (p.Phe201Val)
|
rs142318183
|
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_005566.4(LDHA):c.*129A>G
|
rs199722017
|
0.00016
|
|
NM_005609.3(PYGM):c.-146C>A
|
rs764403406
|
0.00016
|
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
|
NM_005609.4(PYGM):c.981C>T (p.Phe327=)
|
rs146289842
|
0.00016
|
|
NM_006516.4(SLC2A1):c.276-11C>T
|
rs376422395
|
0.00016
|
|
NM_006516.4(SLC2A1):c.885G>A (p.Thr295=)
|
rs144685583
|
0.00016
|
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
|
NM_006721.4(ADK):c.*349T>C
|
rs896781492
|
0.00016
|
|
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)
|
rs146282855
|
0.00016
|
|
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)
|
rs369679261
|
0.00016
|
|
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)
|
rs201741917
|
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_014415.4(ZBTB11):c.709G>A (p.Glu237Lys)
|
rs199936012
|
0.00016
|
|
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp)
|
rs200798902
|
0.00016
|
|
NM_016203.4(PRKAG2):c.1452G>A (p.Glu484=)
|
rs768299371
|
0.00016
|
|
NM_016219.5(MAN1B1):c.*553A>G
|
rs754678273
|
0.00016
|
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
|
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=)
|
rs749762302
|
0.00016
|
|
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser)
|
rs142144025
|
0.00016
|
|
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)
|
rs201374643
|
0.00016
|
|
NM_021957.4(GYS2):c.*359C>T
|
rs542459418
|
0.00016
|
|
NM_021957.4(GYS2):c.1063-15C>G
|
rs150691568
|
0.00016
|
|
NM_021957.4(GYS2):c.1713C>T (p.Leu571=)
|
rs139122418
|
0.00016
|
|
NM_022042.4(SLC26A1):c.*1032C>T
|
rs886180069
|
0.00016
|
|
NM_024989.4(PGAP1):c.2073G>A (p.Thr691=)
|
rs140419014
|
0.00016
|
|
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val)
|
rs138036688
|
0.00016
|
|
NM_033159.4(HYAL1):c.600C>A (p.Gly200=)
|
rs374928005
|
0.00016
|
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
|
NM_138413.4(HOGA1):c.579G>A (p.Val193=)
|
rs142057128
|
0.00016
|
|
NM_138413.4(HOGA1):c.715G>A (p.Val239Ile)
|
rs189919790
|
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_175914.5(HNF4A):c.*1087G>C
|
rs540463510
|
0.00016
|
|
NM_175914.5(HNF4A):c.*2193T>C
|
rs148871044
|
0.00016
|
|
NM_175914.5(HNF4A):c.-83C>T
|
rs879092890
|
0.00016
|
|
NM_175914.5(HNF4A):c.50-4753G>A
|
rs566155738
|
0.00016
|
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
|
NM_000046.5(ARSB):c.750A>G (p.Glu250=)
|
rs200985327
|
0.00015
|
|
NM_000147.5(FUCA1):c.639A>G (p.Pro213=)
|
rs200409671
|
0.00015
|
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
|
NM_000152.5(GAA):c.368G>A (p.Gly123Glu)
|
rs138034915
|
0.00015
|
|
NM_000155.4(GALT):c.564+15G>A
|
rs111033732
|
0.00015
|
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
|
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
|
rs371314015
|
0.00015
|
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
|
NM_000202.8(IDS):c.445T>G (p.Ser149Ala)
|
rs146846763
|
0.00015
|
|
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
|
rs112571714
|
0.00015
|
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
|
NM_000263.4(NAGLU):c.288C>T (p.Phe96=)
|
rs755082293
|
0.00015
|
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
|
NM_000290.4(PGAM2):c.531C>G (p.Ala177=)
|
rs555158017
|
0.00015
|
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
|
NM_000292.3(PHKA2):c.2807-18C>T
|
rs373513953
|
0.00015
|
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
|
NM_000404.4(GLB1):c.1479+11C>T
|
rs369789589
|
0.00015
|
|
NM_000458.3(HNF1B):c.-232C>T
|
rs142612536
|
0.00015
|
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
|
NM_000512.5(GALNS):c.633+12C>T
|
rs199726408
|
0.00015
|
|
NM_000512.5(GALNS):c.699C>T (p.Asp233=)
|
rs374694424
|
0.00015
|
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
|
NM_001041.4(SI):c.5108+16A>G
|
rs149803140
|
0.00015
|
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
|
NM_001352514.2(HLCS):c.2526C>T (p.Leu842=)
|
rs147256659
|
0.00015
|
|
NM_001366110.1(PAX4):c.563-11G>A
|
rs376403180
|
0.00015
|
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
|
NM_001715.3(BLK):c.-203C>T
|
rs886062592
|
0.00015
|
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
|
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
|
rs192597341
|
0.00015
|
|
NM_002294.3(LAMP2):c.1093+2450G>A
|
rs149783672
|
0.00015
|
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
|
NM_002299.4(LCT):c.4362T>G (p.Ser1454=)
|
rs776712928
|
0.00015
|
|
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)
|
rs139125510
|
0.00015
|
|
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser)
|
rs782365144
|
0.00015
|
|
NM_002863.5(PYGL):c.696C>T (p.Pro232=)
|
rs141485241
|
0.00015
|
|
NM_002863.5(PYGL):c.78A>G (p.Ala26=)
|
rs572184134
|
0.00015
|
|
NM_003597.5(KLF11):c.-108G>A
|
rs868540286
|
0.00015
|
|
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)
|
rs148968483
|
0.00015
|
|
NM_003619.4(PRSS12):c.*233G>C
|
rs886059032
|
0.00015
|
|
NM_004130.4(GYG1):c.201C>T (p.Gly67=)
|
rs149479866
|
0.00015
|
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
|
NM_005609.4(PYGM):c.-76A>G
|
rs139467558
|
0.00015
|
|
NM_005609.4(PYGM):c.1769-12G>A
|
rs377117150
|
0.00015
|
|
NM_005609.4(PYGM):c.558C>T (p.Tyr186=)
|
rs144298015
|
0.00015
|
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
|
NM_006516.4(SLC2A1):c.*971G>A
|
rs185891628
|
0.00015
|
|
NM_016203.4(PRKAG2):c.1678+10T>C
|
rs369965019
|
0.00015
|
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
|
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)
|
rs200410163
|
0.00015
|
|
NM_016286.4(DCXR):c.52+1G>A
|
rs375243154
|
0.00015
|
|
NM_031229.4(RBCK1):c.204C>T (p.Thr68=)
|
rs189407509
|
0.00015
|
|
NM_138413.4(HOGA1):c.771C>T (p.Cys257=)
|
rs550989147
|
0.00015
|
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00014
|
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
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_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
|
NM_000151.4(G6PC1):c.*2133C>T
|
rs183542930
|
0.00014
|
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
|
NM_000151.4(G6PC1):c.942C>G (p.Pro314=)
|
rs141352548
|
0.00014
|
|
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)
|
rs149486847
|
0.00014
|
|
NM_000152.5(GAA):c.1593C>T (p.Asp531=)
|
rs138732016
|
0.00014
|
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
|
NM_000152.5(GAA):c.2052G>A (p.Pro684=)
|
rs546463058
|
0.00014
|
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
|
NM_000158.4(GBE1):c.1803G>A (p.Gln601=)
|
rs368793136
|
0.00014
|
|
NM_000158.4(GBE1):c.429+5T>G
|
rs373240805
|
0.00014
|
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
|
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
|
rs188921177
|
0.00014
|
|
NM_000199.4(SGSH):c.-23C>T
|
rs533566888
|
0.00014
|
|
NM_000203.5(IDUA):c.300-20C>T
|
rs374050415
|
0.00014
|
|
NM_000209.4(PDX1):c.164G>A (p.Gly55Asp)
|
rs753249965
|
0.00014
|
|
NM_000262.3(NAGA):c.*572G>A
|
rs538578699
|
0.00014
|
|
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
|
rs139195906
|
0.00014
|
|
NM_000284.4(PDHA1):c.1008+7T>G
|
rs768994523
|
0.00014
|
|
NM_000284.4(PDHA1):c.57+6A>T
|
rs375415868
|
0.00014
|
|
NM_000293.3(PHKB):c.*991A>G
|
rs951718946
|
0.00014
|
|
NM_000293.3(PHKB):c.76+2537G>A
|
rs145777693
|
0.00014
|
|
NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val)
|
rs141025408
|
0.00014
|
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
|
NM_000404.4(GLB1):c.1511A>G (p.Asn504Ser)
|
rs372538696
|
0.00014
|
|
NM_000404.4(GLB1):c.40G>C (p.Val14Leu)
|
rs376500233
|
0.00014
|
|
NM_000404.4(GLB1):c.450C>T (p.Ser150=)
|
rs140353187
|
0.00014
|
|
NM_000458.4(HNF1B):c.1046-12G>A
|
rs201751705
|
0.00014
|
|
NM_000512.5(GALNS):c.*287T>C
|
rs776880179
|
0.00014
|
|
NM_000512.5(GALNS):c.899-6T>C
|
rs374850312
|
0.00014
|
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
|
NM_000528.4(MAN2B1):c.1928+10G>C
|
rs200579436
|
0.00014
|
|
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
|
rs191035238
|
0.00014
|
|
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
|
rs139366493
|
0.00014
|
|
NM_000528.4(MAN2B1):c.630+6A>T
|
rs372899975
|
0.00014
|
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
|
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp)
|
rs201448121
|
0.00014
|
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
|
NM_000642.3(AGL):c.1846A>G (p.Ile616Val)
|
rs371115206
|
0.00014
|
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
|
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)
|
rs193186112
|
0.00014
|
|
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu)
|
rs149331873
|
0.00014
|
|
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys)
|
rs112795811
|
0.00014
|
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
|
NM_000891.3(KCNJ2):c.*1128dup
|
rs777658732
|
0.00014
|
|
NM_000891.3(KCNJ2):c.*213G>A
|
rs886053326
|
0.00014
|
|
NM_000891.3(KCNJ2):c.*879C>T
|
rs969533203
|
0.00014
|
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
|
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
|
rs771656737
|
0.00014
|
|
NM_001014436.3(DBNL):c.*4113C>T
|
rs370359405
|
0.00014
|
|
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)
|
rs763210104
|
0.00014
|
|
NM_001040716.2(PC):c.1494A>G (p.Gln498=)
|
rs761935997
|
0.00014
|
|
NM_001040716.2(PC):c.190G>A (p.Val64Ile)
|
rs35698729
|
0.00014
|
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
|
NM_001040716.2(PC):c.571A>G (p.Ile191Val)
|
rs141543771
|
0.00014
|
|
NM_001041.4(SI):c.2150T>A (p.Val717Asp)
|
rs188320908
|
0.00014
|
|
NM_001041.4(SI):c.325G>A (p.Val109Ile)
|
rs149498200
|
0.00014
|
|
NM_001041.4(SI):c.3424-12T>C
|
rs77749967
|
0.00014
|
|
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
|
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
|
rs370336977
|
0.00014
|
|
NM_001041.4(SI):c.5109-15A>C
|
rs371915462
|
0.00014
|
|
NM_001041.4(SI):c.639T>C (p.Phe213=)
|
rs368517998
|
0.00014
|
|
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
|
rs200963473
|
0.00014
|
|
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=)
|
rs371347098
|
0.00014
|
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
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_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
|
NM_001365304.2(LOC112694756):c.*1308+12A>G
|
rs200733968
|
0.00014
|
|
NM_001366110.1(PAX4):c.345G>A (p.Gln115=)
|
rs115157546
|
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_001931.5(DLAT):c.1399-13C>T
|
rs374698306
|
0.00014
|
|
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)
|
rs376141049
|
0.00014
|
|
NM_001931.5(DLAT):c.279+13C>A
|
rs187974706
|
0.00014
|
|
NM_001931.5(DLAT):c.381+12_381+13insG
|
rs781916881
|
0.00014
|
|
NM_001931.5(DLAT):c.687C>T (p.Thr229=)
|
rs144642035
|
0.00014
|
|
NM_002103.5(GYS1):c.1068C>T (p.Asn356=)
|
rs746981890
|
0.00014
|
|
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser)
|
rs200862074
|
0.00014
|
|
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
|
rs140774115
|
0.00014
|
|
NM_002294.3(LAMP2):c.*3452T>C
|
rs752469856
|
0.00014
|
|
NM_002294.3(LAMP2):c.1093+2478A>G
|
rs140936359
|
0.00014
|
|
NM_002294.3(LAMP2):c.591G>A (p.Val197=)
|
rs201030806
|
0.00014
|
|
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=)
|
rs782437467
|
0.00014
|
|
NM_002863.5(PYGL):c.132C>T (p.Arg44=)
|
rs144280508
|
0.00014
|
|
NM_003041.4(SLC5A2):c.1450-14T>C
|
rs374122696
|
0.00014
|
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
|
NM_003619.4(PRSS12):c.*1143C>T
|
rs987189753
|
0.00014
|
|
NM_003619.4(PRSS12):c.*221A>T
|
rs774121509
|
0.00014
|
|
NM_004130.4(GYG1):c.300C>T (p.Phe100=)
|
rs143167936
|
0.00014
|
|
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln)
|
rs376742471
|
0.00014
|
|
NM_005566.4(LDHA):c.558T>C (p.His186=)
|
rs570034363
|
0.00014
|
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
|
NM_005908.4(MANBA):c.1704+16A>G
|
rs554780446
|
0.00014
|
|
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
|
rs746340334
|
0.00014
|
|
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His)
|
rs149998596
|
0.00014
|
|
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)
|
rs147516123
|
0.00014
|
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
|
NM_017755.6(NSUN2):c.*140T>C
|
rs564014439
|
0.00014
|
|
NM_020897.3(HCN3):c.*1374T>C
|
rs180944719
|
0.00014
|
|
NM_021957.4(GYS2):c.1767T>C (p.Thr589=)
|
rs147417298
|
0.00014
|
|
NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)
|
rs367881123
|
0.00014
|
|
NM_022895.3(C12orf43):c.*2097G>A
|
rs750496742
|
0.00014
|
|
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys)
|
rs372540581
|
0.00014
|
|
NM_031229.4(RBCK1):c.957G>A (p.Ala319=)
|
rs148685980
|
0.00014
|
|
NM_053013.4(ENO3):c.201G>A (p.Glu67=)
|
rs377545954
|
0.00014
|
|
NM_138413.4(HOGA1):c.*593G>A
|
rs564823369
|
0.00014
|
|
NM_152419.3(HGSNAT):c.*2472G>C
|
rs773357212
|
0.00014
|
|
NM_152419.3(HGSNAT):c.*2502A>G
|
rs763278248
|
0.00014
|
|
NM_152419.3(HGSNAT):c.821-28T>C
|
rs201415703
|
0.00014
|
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
|
NM_175914.5(HNF4A):c.*3068C>T
|
rs753843962
|
0.00014
|
|
NM_175914.5(HNF4A):c.*427G>T
|
rs144306069
|
0.00014
|
|
NM_198586.3(NHLRC1):c.*837G>A
|
rs536257194
|
0.00014
|
|
NM_000035.4(ALDOB):c.*898T>C
|
rs886063287
|
0.00013
|
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
|
NM_000046.5(ARSB):c.*2571A>G
|
rs963944156
|
0.00013
|
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
|
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
|
rs200364654
|
0.00013
|
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
|
NM_000151.4(G6PC1):c.*1304G>A
|
rs549833149
|
0.00013
|
|
NM_000152.5(GAA):c.1755-7A>G
|
rs781539108
|
0.00013
|
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
|
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
|
rs375015389
|
0.00013
|
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
|
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
|
rs193922276
|
0.00013
|
|
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr)
|
rs548145029
|
0.00013
|
|
NM_000202.8(IDS):c.103+7C>T
|
rs369735286
|
0.00013
|
|
NM_000202.8(IDS):c.507+6G>T
|
rs370769925
|
0.00013
|
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
|
NM_000209.4(PDX1):c.296C>A (p.Pro99His)
|
rs764870332
|
0.00013
|
|
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)
|
rs141557187
|
0.00013
|
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
|
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter)
|
rs104894591
|
0.00013
|
|
NM_000284.4(PDHA1):c.292-5C>T
|
rs191666624
|
0.00013
|
|
NM_000292.3(PHKA2):c.3038G>A (p.Arg1013Gln)
|
rs753106449
|
0.00013
|
|
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=)
|
rs748792637
|
0.00013
|
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
|
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)
|
rs762531075
|
0.00013
|
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
|
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser)
|
rs199735882
|
0.00013
|
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
|
NM_000343.4(SLC5A1):c.1065C>T (p.Cys355=)
|
rs199702272
|
0.00013
|
|
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr)
|
rs201862174
|
0.00013
|
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
|
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)
|
rs374880588
|
0.00013
|
|
NM_000352.6(ABCC8):c.45C>T (p.Tyr15=)
|
rs758231286
|
0.00013
|
|
NM_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
|
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg)
|
rs183126947
|
0.00013
|
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
|
NM_000507.4(FBP1):c.334-17C>A
|
rs375155560
|
0.00013
|
|
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)
|
rs147290567
|
0.00013
|
|
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)
|
rs766513928
|
0.00013
|
|
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
|
rs988974694
|
0.00013
|
|
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile)
|
rs558131886
|
0.00013
|
|
NM_000891.3(KCNJ2):c.*2887T>G
|
rs770284843
|
0.00013
|
|
NM_000891.3(KCNJ2):c.-2C>T
|
rs144760658
|
0.00013
|
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
|
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)
|
rs367768055
|
0.00013
|
|
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)
|
rs144575104
|
0.00013
|
|
NM_001040716.2(PC):c.1575G>A (p.Thr525=)
|
rs143833575
|
0.00013
|
|
NM_001041.4(SI):c.4540+4A>G
|
rs201654919
|
0.00013
|
|
NM_001041.4(SI):c.5108+13T>C
|
rs535082142
|
0.00013
|
|
NM_001042351.3(G6PD):c.-23G>A
|
rs782577241
|
0.00013
|
|
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)
|
rs200713586
|
0.00013
|
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
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_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
|
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile)
|
rs782130334
|
0.00013
|
|
NM_001360016.2(G6PD):c.738C>T (p.Arg246=)
|
rs144341068
|
0.00013
|
|
NM_001365304.2(LOC112694756):c.*1680C>T
|
rs886051896
|
0.00013
|
|
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)
|
rs201607054
|
0.00013
|
|
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)
|
rs114202595
|
0.00013
|
|
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)
|
rs114315130
|
0.00013
|
|
NM_001370658.1(BTD):c.400-4C>T
|
rs372355662
|
0.00013
|
|
NM_001931.5(DLAT):c.318C>A (p.Gly106=)
|
rs201070254
|
0.00013
|
|
NM_002076.4(GNS):c.1420-11A>G
|
rs192263369
|
0.00013
|
|
NM_002294.3(LAMP2):c.*2476C>T
|
rs776684734
|
0.00013
|
|
NM_002294.3(LAMP2):c.1093+2532G>A
|
rs730880488
|
0.00013
|
|
NM_002299.4(LCT):c.*230T>C
|
rs749324196
|
0.00013
|
|
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=)
|
rs147643871
|
0.00013
|
|
NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn)
|
rs782063260
|
0.00013
|
|
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
|
rs143802511
|
0.00013
|
|
NM_002637.4(PHKA1):c.718-12C>A
|
rs782227106
|
0.00013
|
|
NM_003477.3(PDHX):c.*763G>A
|
rs886048250
|
0.00013
|
|
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu)
|
rs142551296
|
0.00013
|
|
NM_003619.4(PRSS12):c.669G>A (p.Pro223=)
|
rs151271524
|
0.00013
|
|
NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys)
|
rs139797816
|
0.00013
|
|
NM_004130.4(GYG1):c.883G>C (p.Asp295His)
|
rs202085215
|
0.00013
|
|
NM_004130.4(GYG1):c.961C>T (p.Arg321Trp)
|
rs138596591
|
0.00013
|
|
NM_004563.4(PCK2):c.287G>A (p.Arg96His)
|
rs770940344
|
0.00013
|
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
|
NM_005566.4(LDHA):c.*660C>T
|
rs765180823
|
0.00013
|
|
NM_005609.2(PYGM):c.-724C>G
|
rs754685048
|
0.00013
|
|
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys)
|
rs559363120
|
0.00013
|
|
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly)
|
rs138216864
|
0.00013
|
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
|
NM_006516.4(SLC2A1):c.517-18G>A
|
rs372553463
|
0.00013
|
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
|
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)
|
rs201284672
|
0.00013
|
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
|
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)
|
rs575361734
|
0.00013
|
|
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser)
|
rs768668950
|
0.00013
|
|
NM_017755.6(NSUN2):c.*294C>G
|
rs886060727
|
0.00013
|
|
NM_017755.6(NSUN2):c.*563C>T
|
rs374769713
|
0.00013
|
|
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)
|
rs150785220
|
0.00013
|
|
NM_020897.3(HCN3):c.*1068G>A
|
rs528740550
|
0.00013
|
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
|
NM_022895.3(C12orf43):c.*2340G>A
|
rs1026422272
|
0.00013
|
|
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=)
|
rs374678391
|
0.00013
|
|
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys)
|
rs145423115
|
0.00013
|
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
|
NM_138413.4(HOGA1):c.*290G>A
|
rs144890621
|
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_175914.5(HNF4A):c.*1363C>T
|
rs769165584
|
0.00013
|
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
|
NM_198586.3(NHLRC1):c.977C>A (p.Thr326Asn)
|
rs770587249
|
0.00013
|
|
NM_000027.4(AGA):c.698+20C>T
|
rs753356588
|
0.00012
|
|
NM_000030.3(AGXT):c.596-7T>C
|
rs368799073
|
0.00012
|
|
NM_000035.4(ALDOB):c.*567C>T
|
rs540272117
|
0.00012
|
|
NM_000046.3(ARSB):c.-848C>T
|
rs571164401
|
0.00012
|
|
NM_000046.5(ARSB):c.1197C>T (p.Phe399=)
|
rs200793396
|
0.00012
|
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
|
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
|
rs201209052
|
0.00012
|
|
NM_000151.4(G6PC1):c.793C>G (p.Leu265Val)
|
rs140224951
|
0.00012
|
|
NM_000151.4(G6PC1):c.948C>A (p.Ser316=)
|
rs137978566
|
0.00012
|
|
NM_000152.5(GAA):c.*2C>T
|
rs761162129
|
0.00012
|
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
|
NM_000152.5(GAA):c.1860C>T (p.Ser620=)
|
rs370369972
|
0.00012
|
|
NM_000152.5(GAA):c.2331+11G>C
|
rs376709495
|
0.00012
|
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
|
NM_000152.5(GAA):c.663C>T (p.Ile221=)
|
rs142878958
|
0.00012
|
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
|
NM_000158.4(GBE1):c.993-19T>C
|
rs374576644
|
0.00012
|
|
NM_000181.4(GUSB):c.918G>T (p.Gln306His)
|
rs375828604
|
0.00012
|
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
|
NM_000202.8(IDS):c.667G>A (p.Val223Ile)
|
rs200784263
|
0.00012
|
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00012
|
|
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
|
rs866267579
|
0.00012
|
|
NM_000284.4(PDHA1):c.*707G>A
|
rs150945967
|
0.00012
|
|
NM_000284.4(PDHA1):c.363C>T (p.His121=)
|
rs183170654
|
0.00012
|
|
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)
|
rs138727886
|
0.00012
|
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
|
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val)
|
rs750344114
|
0.00012
|
|
NM_000292.3(PHKA2):c.1246-12C>T
|
rs759418361
|
0.00012
|
|
NM_000292.3(PHKA2):c.1308T>G (p.Pro436=)
|
rs148492015
|
0.00012
|
|
NM_000293.3(PHKB):c.1127-2A>G
|
rs535749057
|
0.00012
|
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
|
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)
|
rs202127217
|
0.00012
|
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
|
NM_000308.4(CTSA):c.1089-5G>A
|
rs760742688
|
0.00012
|
|
NM_000308.4(CTSA):c.468C>T (p.Ala156=)
|
rs190565374
|
0.00012
|
|
NM_000308.4(CTSA):c.601-17C>A
|
rs541720263
|
0.00012
|
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
|
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
|
rs766175621
|
0.00012
|
|
NM_000528.4(MAN2B1):c.*91C>T
|
rs145108101
|
0.00012
|
|
NM_000528.4(MAN2B1):c.1027-4G>A
|
rs368900863
|
0.00012
|
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
|
NM_001040716.2(PC):c.843C>T (p.Ala281=)
|
rs150040684
|
0.00012
|
|
NM_001041.4(SI):c.2159+12G>A
|
rs376831754
|
0.00012
|
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
|
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys)
|
rs138928835
|
0.00012
|
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
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_001360016.2(G6PD):c.1458-12G>A
|
rs369024848
|
0.00012
|
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
|
NM_001931.5(DLAT):c.969A>C (p.Pro323=)
|
rs587627931
|
0.00012
|
|
NM_002076.4(GNS):c.*2612G>T
|
rs533328232
|
0.00012
|
|
NM_002103.5(GYS1):c.1308+8T>C
|
rs371156570
|
0.00012
|
|
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
|
rs201248933
|
0.00012
|
|
NM_002294.3(LAMP2):c.1093+2485T>C
|
rs1301008847
|
0.00012
|
|
NM_002294.3(LAMP2):c.1162G>T (p.Val388Leu)
|
rs372906565
|
0.00012
|
|
NM_002637.4(PHKA1):c.2370-19C>T
|
rs376822361
|
0.00012
|
|
NM_002863.5(PYGL):c.1629G>A (p.Lys543=)
|
rs774872592
|
0.00012
|
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
|
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)
|
rs61752927
|
0.00012
|
|
NM_003597.5(KLF11):c.*2274G>A
|
rs149368043
|
0.00012
|
|
NM_004130.4(GYG1):c.499C>T (p.Leu167=)
|
rs551623234
|
0.00012
|
|
NM_005908.4(MANBA):c.1302A>G (p.Ala434=)
|
rs376135201
|
0.00012
|
|
NM_005908.4(MANBA):c.726C>G (p.Val242=)
|
rs376480030
|
0.00012
|
|
NM_006516.4(SLC2A1):c.*1016A>G
|
rs886046334
|
0.00012
|
|
NM_015028.4(TNIK):c.2869A>G (p.Met957Val)
|
rs200347488
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
|
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=)
|
rs374793603
|
0.00012
|
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
|
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser)
|
rs763793795
|
0.00012
|
|
NM_021957.4(GYS2):c.1549+19G>A
|
rs369697631
|
0.00012
|
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
|
NM_024989.4(PGAP1):c.1638A>G (p.Glu546=)
|
rs142482606
|
0.00012
|
|
NM_024989.4(PGAP1):c.2287-11A>G
|
rs369759909
|
0.00012
|
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
|
NM_152419.3(HGSNAT):c.1378-20T>G
|
rs376109017
|
0.00012
|
|
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)
|
rs764877688
|
0.00012
|
|
NM_000030.3(AGXT):c.1071+12C>T
|
rs375775541
|
0.00011
|
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
|
NM_000035.4(ALDOB):c.*819A>C
|
rs780375040
|
0.00011
|
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
|
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys)
|
rs190464963
|
0.00011
|
|
NM_000046.4(ARSB):c.-187G>A
|
rs529476939
|
0.00011
|
|
NM_000108.5(DLD):c.267+9G>A
|
rs188936529
|
0.00011
|
|
NM_000147.5(FUCA1):c.1026T>G (p.Thr342=)
|
rs771696380
|
0.00011
|
|
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
|
rs147866670
|
0.00011
|
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
|
NM_000152.5(GAA):c.1872C>T (p.Leu624=)
|
rs373103422
|
0.00011
|
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
|
NM_000152.5(GAA):c.546+4G>C
|
rs550618589
|
0.00011
|
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
|
NM_000158.4(GBE1):c.*226T>C
|
rs748963117
|
0.00011
|
|
NM_000158.4(GBE1):c.1722T>C (p.Leu574=)
|
rs367905308
|
0.00011
|
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
0.00011
|
|
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
|
rs148364905
|
0.00011
|
|
NM_000181.4(GUSB):c.582-17C>T
|
rs760650363
|
0.00011
|
|
NM_000199.5(SGSH):c.*126G>A
|
rs546128310
|
0.00011
|
|
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu)
|
rs144035603
|
0.00011
|
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
|
NM_000199.5(SGSH):c.663+13C>T
|
rs760216365
|
0.00011
|
|
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile)
|
rs372205468
|
0.00011
|
|
NM_000202.8(IDS):c.236C>G (p.Ala79Gly)
|
rs368513342
|
0.00011
|
|
NM_000202.8(IDS):c.957C>T (p.Asp319=)
|
rs782488487
|
0.00011
|
|
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
|
rs565375837
|
0.00011
|
|
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu)
|
rs143621769
|
0.00011
|
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
|
NM_000208.4(INSR):c.225C>T (p.Asp75=)
|
rs41352749
|
0.00011
|
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
|
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
|
rs375884363
|
0.00011
|
|
NM_000284.4(PDHA1):c.*1450C>T
|
rs747229060
|
0.00011
|
|
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
|
rs764996618
|
0.00011
|
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
0.00011
|
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
|
NM_000292.3(PHKA2):c.1138-15T>G
|
rs199624054
|
0.00011
|
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
|
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
|
rs369400689
|
0.00011
|
|
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=)
|
rs143721284
|
0.00011
|
|
NM_000293.3(PHKB):c.*741G>A
|
rs1041235488
|
0.00011
|
|
NM_000293.3(PHKB):c.1285C>T (p.Arg429Ter)
|
rs563345848
|
0.00011
|
|
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu)
|
rs140636792
|
0.00011
|
|
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
|
rs558898797
|
0.00011
|
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
|
NM_000308.4(CTSA):c.*320G>A
|
rs568876316
|
0.00011
|
|
NM_000308.4(CTSA):c.1036G>A (p.Val346Met)
|
rs137941635
|
0.00011
|
|
NM_000308.4(CTSA):c.870-15C>T
|
rs756803626
|
0.00011
|
|
NM_000308.4(CTSA):c.948+5G>A
|
rs201180372
|
0.00011
|
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
|
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)
|
rs150316347
|
0.00011
|
|
NM_000352.6(ABCC8):c.4119+15C>T
|
rs58368439
|
0.00011
|
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
|
NM_000404.4(GLB1):c.1521G>A (p.Thr507=)
|
rs374924493
|
0.00011
|
|
NM_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
|
rs186781398
|
0.00011
|
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
|
NM_000404.4(GLB1):c.956-6T>C
|
rs779848232
|
0.00011
|
|
NM_000458.4(HNF1B):c.420C>T (p.Val140=)
|
rs370134885
|
0.00011
|
|
NM_000507.4(FBP1):c.*152C>T
|
rs190431674
|
0.00011
|
|
NM_000507.4(FBP1):c.-130C>A
|
rs1003899519
|
0.00011
|
|
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn)
|
rs146471218
|
0.00011
|
|
NM_000512.5(GALNS):c.1161C>T (p.Gly387=)
|
rs376919708
|
0.00011
|
|
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)
|
rs1014454531
|
0.00011
|
|
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00011
|
|
NM_000528.4(MAN2B1):c.1645-14C>T
|
rs369999433
|
0.00011
|
|
NM_000528.4(MAN2B1):c.2658C>G (p.Arg886=)
|
rs556554403
|
0.00011
|
|
NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile)
|
rs144119421
|
0.00011
|
|
NM_000545.8(HNF1A):c.1272T>C (p.Pro424=)
|
rs141324437
|
0.00011
|
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
|
NM_000642.3(AGL):c.*1103A>G
|
rs138743315
|
0.00011
|
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
|
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr)
|
rs374651629
|
0.00011
|
|
NM_000891.3(KCNJ2):c.-349C>A
|
rs370696463
|
0.00011
|
|
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)
|
rs551369705
|
0.00011
|
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
|
NM_000925.3(PDHB):c.-49T>C
|
rs373907802
|
0.00011
|
|
NM_000925.4(PDHB):c.935-12T>G
|
rs200752186
|
0.00011
|
|
NM_001008216.2(GALE):c.492C>T (p.Ile164=)
|
rs370228054
|
0.00011
|
|
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln)
|
rs142036463
|
0.00011
|
|
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
|
rs139795235
|
0.00011
|
|
NM_001040716.2(PC):c.2304G>C (p.Leu768=)
|
rs61731787
|
0.00011
|
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
|
NM_001041.4(SI):c.118+10A>G
|
rs200646132
|
0.00011
|
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00011
|
|
NM_001041.4(SI):c.4458G>A (p.Thr1486=)
|
rs140287192
|
0.00011
|
|
NM_001041.4(SI):c.5C>A (p.Ala2Glu)
|
rs201612742
|
0.00011
|
|
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)
|
rs201999820
|
0.00011
|
|
NM_001164277.2(SLC37A4):c.*31C>T
|
rs564775174
|
0.00011
|
|
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=)
|
rs542959160
|
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_001360016.2(G6PD):c.121-20A>T
|
rs782444702
|
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_001543.5(NDST1):c.1360C>T (p.Arg454Cys)
|
rs150009231
|
0.00011
|
|
NM_001715.3(BLK):c.-76G>A
|
rs957686517
|
0.00011
|
|
NM_001715.3(BLK):c.772+16C>T
|
rs200129390
|
0.00011
|
|
NM_001715.3(BLK):c.809C>T (p.Thr270Met)
|
rs368427116
|
0.00011
|
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
|
NM_001931.5(DLAT):c.1743C>T (p.Asn581=)
|
rs150592352
|
0.00011
|
|
NM_001931.5(DLAT):c.506+9T>C
|
rs782244285
|
0.00011
|
|
NM_002076.4(GNS):c.*2843C>T
|
rs577545481
|
0.00011
|
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
|
NM_002103.5(GYS1):c.*824del
|
rs886054565
|
0.00011
|
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
|
NM_002294.3(LAMP2):c.*975A>G
|
rs1179268991
|
0.00011
|
|
NM_002299.4(LCT):c.21A>G (p.Val7=)
|
rs377228457
|
0.00011
|
|
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile)
|
rs376732886
|
0.00011
|
|
NM_002500.4(NEUROD1):c.*1601C>A
|
rs929497632
|
0.00011
|
|
NM_002500.5(NEUROD1):c.*1033T>G
|
rs555224400
|
0.00011
|
|
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)
|
rs149472972
|
0.00011
|
|
NM_002591.4(PCK1):c.521C>T (p.Thr174Met)
|
rs199822253
|
0.00011
|
|
NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln)
|
rs782159405
|
0.00011
|
|
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
|
rs144583035
|
0.00011
|
|
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
|
rs147863207
|
0.00011
|
|
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)
|
rs141627694
|
0.00011
|
|
NM_003051.4(SLC16A1):c.*603T>C
|
rs527658261
|
0.00011
|
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
|
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)
|
rs765182974
|
0.00011
|
|
NM_003597.5(KLF11):c.*166C>T
|
rs531131204
|
0.00011
|
|
NM_003619.4(PRSS12):c.*604A>C
|
rs551930250
|
0.00011
|
|
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile)
|
rs201801258
|
0.00011
|
|
NM_005219.5(DIAPH1):c.3313C>T (p.Arg1105Trp)
|
rs781577050
|
0.00011
|
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
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_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
0.00011
|
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
|
NM_005908.4(MANBA):c.*172G>A
|
rs146374185
|
0.00011
|
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
|
NM_005908.4(MANBA):c.530A>G (p.His177Arg)
|
rs750914797
|
0.00011
|
|
NM_005908.4(MANBA):c.849+13A>C
|
rs76954465
|
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_012203.2(GRHPR):c.149C>T (p.Ala50Val)
|
rs150805048
|
0.00011
|
|
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln)
|
rs146603229
|
0.00011
|
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
|
NM_012434.5(SLC17A5):c.94+20A>G
|
rs748801850
|
0.00011
|
|
NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala)
|
rs376604258
|
0.00011
|
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
|
NM_016203.4(PRKAG2):c.1234-17G>A
|
rs587781127
|
0.00011
|
|
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)
|
rs144672735
|
0.00011
|
|
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)
|
rs372680556
|
0.00011
|
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
|
NM_020066.5(FMN2):c.2297G>A (p.Arg766His)
|
rs554313620
|
0.00011
|
|
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys)
|
rs148617918
|
0.00011
|
|
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln)
|
rs387907487
|
0.00011
|
|
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln)
|
rs368990025
|
0.00011
|
|
NM_022895.3(C12orf43):c.*2096C>T
|
rs571134960
|
0.00011
|
|
NM_022895.3(C12orf43):c.*2694A>G
|
rs571084139
|
0.00011
|
|
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)
|
rs749719250
|
0.00011
|
|
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg)
|
rs370963132
|
0.00011
|
|
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys)
|
rs144018482
|
0.00011
|
|
NM_031466.8(TRAPPC9):c.-74C>A
|
rs139214686
|
0.00011
|
|
NM_033159.4(HYAL1):c.1281G>A (p.Pro427=)
|
rs782573040
|
0.00011
|
|
NM_138413.4(HOGA1):c.594C>T (p.Ser198=)
|
rs374733151
|
0.00011
|
|
NM_138413.4(HOGA1):c.700+9C>T
|
rs375091787
|
0.00011
|
|
NM_144563.3(RPIA):c.789C>T (p.Asp263=)
|
rs368582524
|
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_175914.5(HNF4A):c.*2374G>C
|
rs373068234
|
0.00011
|
|
NM_198586.3(NHLRC1):c.27G>A (p.Gly9=)
|
rs765575310
|
0.00011
|
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
|
NM_000046.5(ARSB):c.*1373A>G
|
rs146584784
|
0.00010
|
|
NM_000046.5(ARSB):c.204C>A (p.Arg68=)
|
rs559187375
|
0.00010
|
|
NM_000046.5(ARSB):c.240G>A (p.Val80=)
|
rs368338486
|
0.00010
|
|
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
|
rs139174369
|
0.00010
|
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
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_000147.5(FUCA1):c.34G>T (p.Gly12Cys)
|
rs530854024
|
0.00010
|
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
|
NM_000151.4(G6PC1):c.*1652C>T
|
rs765883953
|
0.00010
|
|
NM_000152.5(GAA):c.-62A>C
|
rs367731841
|
0.00010
|
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
|
NM_000152.5(GAA):c.1637-12C>T
|
rs374923144
|
0.00010
|
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
|
NM_000152.5(GAA):c.2482-18G>A
|
rs757911622
|
0.00010
|
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
|
NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)
|
rs376790302
|
0.00010
|
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
|
NM_000158.4(GBE1):c.1619-9G>A
|
rs745318242
|
0.00010
|
|
NM_000158.4(GBE1):c.2036G>A (p.Arg679His)
|
rs758188572
|
0.00010
|
|
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln)
|
rs368555635
|
0.00010
|
|
NM_000181.4(GUSB):c.202C>T (p.Leu68=)
|
rs746199104
|
0.00010
|
|
NM_000199.5(SGSH):c.*471G>A
|
rs138717045
|
0.00010
|
|
NM_000199.5(SGSH):c.1062C>T (p.Ala354=)
|
rs150750383
|
0.00010
|
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
|
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser)
|
rs773480617
|
0.00010
|
|
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
|
rs151243903
|
0.00010
|
|
NM_000202.8(IDS):c.881G>A (p.Arg294Gln)
|
rs782445506
|
0.00010
|
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00010
|
|
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)
|
rs377684568
|
0.00010
|
|
NM_000207.3(INS):c.*28G>A
|
rs778107057
|
0.00010
|
|
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr)
|
rs936474667
|
0.00010
|
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
|
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)
|
rs767503319
|
0.00010
|
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
|
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
|
rs200420235
|
0.00010
|
|
NM_000291.4(PGK1):c.937-8C>T
|
rs367749559
|
0.00010
|
|
NM_000293.3(PHKB):c.*345C>T
|
rs757393313
|
0.00010
|
|
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys)
|
rs201217052
|
0.00010
|
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
|
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln)
|
rs572115942
|
0.00010
|
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00010
|
|
NM_000308.4(CTSA):c.977G>A (p.Arg326His)
|
rs554534522
|
0.00010
|
|
NM_000340.2(SLC2A2):c.1251G>A (p.Pro417=)
|
rs371657103
|
0.00010
|
|
NM_000343.4(SLC5A1):c.*1455C>A
|
rs559383534
|
0.00010
|
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
|
NM_000352.6(ABCC8):c.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
|
NM_000404.4(GLB1):c.1480-8C>G
|
rs753129246
|
0.00010
|
|
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)
|
rs1803198
|
0.00010
|
|
NM_000507.4(FBP1):c.-59A>T
|
rs913996916
|
0.00010
|
|
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)
|
rs759615686
|
0.00010
|
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
|
NM_000528.4(MAN2B1):c.2040G>A (p.Leu680=)
|
rs147342488
|
0.00010
|
|
NM_000528.4(MAN2B1):c.2166-18C>T
|
rs368669177
|
0.00010
|
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
|
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)
|
rs185112259
|
0.00010
|
|
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser)
|
rs377129682
|
0.00010
|
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
0.00010
|
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
0.00010
|
|
NM_000642.3(AGL):c.1284-4A>G
|
rs372612377
|
0.00010
|
|
NM_000642.3(AGL):c.1321A>G (p.Met441Val)
|
rs753035763
|
0.00010
|
|
NM_000642.3(AGL):c.2192C>T (p.Ala731Val)
|
rs542485403
|
0.00010
|
|
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)
|
rs148930543
|
0.00010
|
|
NM_000891.3(KCNJ2):c.*2875_*2876del
|
rs561353262
|
0.00010
|
|
NM_000891.3(KCNJ2):c.*3409A>G
|
rs551384883
|
0.00010
|
|
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)
|
rs201909993
|
0.00010
|
|
NM_000925.4(PDHB):c.10G>A (p.Val4Met)
|
rs201470762
|
0.00010
|
|
NM_001008216.2(GALE):c.*192T>C
|
rs576468712
|
0.00010
|
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00010
|
|
NM_001008216.2(GALE):c.647C>T (p.Ala216Val)
|
rs542192037
|
0.00010
|
|
NM_001040716.2(PC):c.*185G>A
|
rs573667993
|
0.00010
|
|
NM_001040716.2(PC):c.2223+20G>A
|
rs550066048
|
0.00010
|
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
|
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)
|
rs141450837
|
0.00010
|
|
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)
|
rs200451408
|
0.00010
|
|
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)
|
rs138927818
|
0.00010
|
|
NM_001041.4(SI):c.4062+18T>C
|
rs367787760
|
0.00010
|
|
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val)
|
rs769398594
|
0.00010
|
|
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)
|
rs762765901
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.1124+25T>C
|
rs782603352
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=)
|
rs202137454
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)
|
rs569831771
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
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_001360016.2(G6PD):c.519C>T (p.Phe173=)
|
rs200111236
|
0.00010
|
|
NM_001360016.2(G6PD):c.957C>T (p.Thr319=)
|
rs199702562
|
0.00010
|
|
NM_001360016.2(G6PD):c.990C>T (p.Arg330=)
|
rs782064465
|
0.00010
|
|
NM_001365304.2(LOC112694756):c.*1676T>G
|
rs886051895
|
0.00010
|
|
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)
|
rs143084654
|
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_001715.3(BLK):c.*229G>C
|
rs1045306871
|
0.00010
|
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
|
NM_001715.3(BLK):c.18C>T (p.Ser6=)
|
rs113656715
|
0.00010
|
|
NM_001739.2(CA5A):c.459+10C>T
|
rs368408382
|
0.00010
|
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
|
NM_002076.4(GNS):c.1419+8G>A
|
rs760970543
|
0.00010
|
|
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)
|
rs574024349
|
0.00010
|
|
NM_002103.5(GYS1):c.942-20G>A
|
rs368204451
|
0.00010
|
|
NM_002591.4(PCK1):c.858C>T (p.Ser286=)
|
rs150928523
|
0.00010
|
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
|
NM_002637.4(PHKA1):c.778C>T (p.Leu260Phe)
|
rs781803498
|
0.00010
|
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
|
NM_003051.4(SLC16A1):c.*1801A>G
|
rs750135904
|
0.00010
|
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
|
NM_003477.3(PDHX):c.*259G>T
|
rs771515806
|
0.00010
|
|
NM_003477.3(PDHX):c.*650G>A
|
rs886048249
|
0.00010
|
|
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)
|
rs149337104
|
0.00010
|
|
NM_003597.5(KLF11):c.*1386A>G
|
rs886054732
|
0.00010
|
|
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)
|
rs201005601
|
0.00010
|
|
NM_003619.4(PRSS12):c.2320+6G>C
|
rs369283461
|
0.00010
|
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
|
NM_005566.4(LDHA):c.711-8T>A
|
rs200483406
|
0.00010
|
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00010
|
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
|
NM_005609.4(PYGM):c.284C>T (p.Thr95Met)
|
rs375233791
|
0.00010
|
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
|
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
|
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
|
rs771658981
|
0.00010
|
|
NM_005908.4(MANBA):c.2601G>A (p.Glu867=)
|
rs746506717
|
0.00010
|
|
NM_006488.3(KHK):c.127G>A (p.Ala43Thr)
|
rs104893644
|
0.00010
|
|
NM_006488.3(KHK):c.470A>C (p.Asn157Thr)
|
rs150233686
|
0.00010
|
|
NM_006516.4(SLC2A1):c.*587A>T
|
rs748209315
|
0.00010
|
|
NM_006516.4(SLC2A1):c.312C>G (p.Phe104Leu)
|
rs76672402
|
0.00010
|
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
|
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=)
|
rs142482217
|
0.00010
|
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
|
NM_017755.6(NSUN2):c.1458T>C (p.His486=)
|
rs200925761
|
0.00010
|
|
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)
|
rs146873580
|
0.00010
|
|
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His)
|
rs141189363
|
0.00010
|
|
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)
|
rs56067702
|
0.00010
|
|
NM_021957.4(GYS2):c.1156C>T (p.Arg386Ter)
|
rs146195866
|
0.00010
|
|
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His)
|
rs143798221
|
0.00010
|
|
NM_021957.4(GYS2):c.526G>A (p.Val176Ile)
|
rs752277622
|
0.00010
|
|
NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer)
|
rs778770773
|
0.00010
|
|
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)
|
rs545959971
|
0.00010
|
|
NM_024989.4(PGAP1):c.108G>A (p.Lys36=)
|
rs753729948
|
0.00010
|
|
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile)
|
rs538961301
|
0.00010
|
|
NM_031229.4(RBCK1):c.1308+20G>A
|
rs141923181
|
0.00010
|
|
NM_031229.4(RBCK1):c.746A>G (p.Gln249Arg)
|
rs763971799
|
0.00010
|
|
NM_053013.4(ENO3):c.181+5G>A
|
rs200793919
|
0.00010
|
|
NM_053013.4(ENO3):c.444+20C>T
|
rs778632605
|
0.00010
|
|
NM_053013.4(ENO3):c.866-34_866-13del
|
rs1322708822
|
0.00010
|
|
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr)
|
rs116527624
|
0.00010
|
|
NM_138413.4(HOGA1):c.934G>A (p.Ala312Thr)
|
rs115431683
|
0.00010
|
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
|
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
|
rs1025643467
|
0.00010
|
|
NM_000027.4(AGA):c.150A>T (p.Gly50=)
|
rs143210437
|
0.00009
|
|
NM_000027.4(AGA):c.807-12dup
|
rs749999445
|
0.00009
|
|
NM_000030.3(AGXT):c.942+12C>G
|
rs202001799
|
0.00009
|
|
NM_000035.4(ALDOB):c.*568G>A
|
rs978202633
|
0.00009
|
|
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
|
rs772473508
|
0.00009
|
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
|
NM_000046.5(ARSB):c.*2672A>G
|
rs886060780
|
0.00009
|
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
|
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
|
rs769542268
|
0.00009
|
|
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
|
NM_000046.5(ARSB):c.312+8G>C
|
rs774555967
|
0.00009
|
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
|
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu)
|
rs747889861
|
0.00009
|
|
NM_000151.4(G6PC1):c.*1324C>T
|
rs548787621
|
0.00009
|
|
NM_000152.5(GAA):c.1076-16C>T
|
rs367704731
|
0.00009
|
|
NM_000152.5(GAA):c.1302C>T (p.Gly434=)
|
rs752231775
|
0.00009
|
|
NM_000152.5(GAA):c.1482A>G (p.Thr494=)
|
rs202064115
|
0.00009
|
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
|
NM_000152.5(GAA):c.1754+21C>T
|
rs373387713
|
0.00009
|
|
NM_000152.5(GAA):c.1818C>T (p.His606=)
|
rs374368644
|
0.00009
|
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
|
NM_000152.5(GAA):c.297C>T (p.Thr99=)
|
rs771846178
|
0.00009
|
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
|
NM_000154.2(GALK1):c.1144C>T (p.Gln382Ter)
|
rs111033608
|
0.00009
|
|
NM_000154.2(GALK1):c.60C>T (p.Phe20=)
|
rs556192480
|
0.00009
|
|
NM_000154.2(GALK1):c.840C>T (p.His280=)
|
rs375779311
|
0.00009
|
|
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)
|
rs376546162
|
0.00009
|
|
NM_000158.4(GBE1):c.691+15T>C
|
rs370417249
|
0.00009
|
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
|
NM_000181.4(GUSB):c.-10A>T
|
rs540793200
|
0.00009
|
|
NM_000181.4(GUSB):c.1244+17C>T
|
rs199587731
|
0.00009
|
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
|
NM_000199.5(SGSH):c.349C>T (p.Arg117Cys)
|
rs772732363
|
0.00009
|
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
|
NM_000199.5(SGSH):c.746-15G>A
|
rs373302525
|
0.00009
|
|
NM_000202.8(IDS):c.1227G>A (p.Thr409=)
|
rs201905166
|
0.00009
|
|
NM_000202.8(IDS):c.234T>C (p.Phe78=)
|
rs782290556
|
0.00009
|
|
NM_000203.5(IDUA):c.240C>G (p.Val80=)
|
rs373277285
|
0.00009
|
|
NM_000203.5(IDUA):c.405C>T (p.Ser135=)
|
rs201326626
|
0.00009
|
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
|
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
|
rs138324133
|
0.00009
|
|
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)
|
rs145452809
|
0.00009
|
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
|
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
|
rs199879809
|
0.00009
|
|
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)
|
rs201156613
|
0.00009
|
|
NM_000284.4(PDHA1):c.118-17A>G
|
rs749601456
|
0.00009
|
|
NM_000289.6(PFKM):c.2040C>T (p.Gly680=)
|
rs369893708
|
0.00009
|
|
NM_000289.6(PFKM):c.597C>T (p.His199=)
|
rs554169766
|
0.00009
|
|
NM_000289.6(PFKM):c.747+10C>T
|
rs1372921221
|
0.00009
|
|
NM_000292.3(PHKA2):c.477C>T (p.Leu159=)
|
rs187396860
|
0.00009
|
|
NM_000293.3(PHKB):c.1307G>A (p.Arg436His)
|
rs143602657
|
0.00009
|
|
NM_000293.3(PHKB):c.1798-20T>C
|
rs758115079
|
0.00009
|
|
NM_000293.3(PHKB):c.2427+969C>T
|
rs1131063
|
0.00009
|
|
NM_000293.3(PHKB):c.3122G>A (p.Arg1041Gln)
|
rs372327608
|
0.00009
|
|
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys)
|
rs202167409
|
0.00009
|
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
|
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)
|
rs777228104
|
0.00009
|
|
NM_000308.4(CTSA):c.201G>A (p.Val67=)
|
rs149268665
|
0.00009
|
|
NM_000308.4(CTSA):c.920G>A (p.Arg307His)
|
rs199808601
|
0.00009
|
|
NM_000340.2(SLC2A2):c.*170G>A
|
rs528459194
|
0.00009
|
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
|
NM_000340.2(SLC2A2):c.963+18C>T
|
rs752640585
|
0.00009
|
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
|
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)
|
rs17846762
|
0.00009
|
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
|
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val)
|
rs199692082
|
0.00009
|
|
NM_000404.4(GLB1):c.1234-17A>T
|
rs185922201
|
0.00009
|
|
NM_000404.4(GLB1):c.1257G>A (p.Arg419=)
|
rs754660496
|
0.00009
|
|
NM_000404.4(GLB1):c.552+18C>T
|
rs779369835
|
0.00009
|
|
NM_000404.4(GLB1):c.734-10C>A
|
rs181971321
|
0.00009
|
|
NM_000434.4(NEU1):c.*294G>A
|
rs908745663
|
0.00009
|
|
NM_000434.4(NEU1):c.1107C>A (p.Gly369=)
|
rs150864071
|
0.00009
|
|
NM_000458.4(HNF1B):c.1534+11G>A
|
rs373875820
|
0.00009
|
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
|
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser)
|
rs1373961798
|
0.00009
|
|
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
|
rs750739641
|
0.00009
|
|
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
|
rs140588640
|
0.00009
|
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
|
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)
|
rs748877741
|
0.00009
|
|
NM_000528.4(MAN2B1):c.126G>C (p.Leu42=)
|
rs900625808
|
0.00009
|
|
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)
|
rs749371047
|
0.00009
|
|
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser)
|
rs564296108
|
0.00009
|
|
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)
|
rs199673719
|
0.00009
|
|
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)
|
rs779769525
|
0.00009
|
|
NM_000528.4(MAN2B1):c.2355+5C>G
|
rs770412137
|
0.00009
|
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
|
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
|
rs777286610
|
0.00009
|
|
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=)
|
rs371341958
|
0.00009
|
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
|
NM_000528.4(MAN2B1):c.789G>A (p.Pro263=)
|
rs149484019
|
0.00009
|
|
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)
|
rs772222326
|
0.00009
|
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
|
NM_000545.8(HNF1A):c.225C>T (p.Asp75=)
|
rs202180554
|
0.00009
|
|
NM_000642.3(AGL):c.*1720A>C
|
rs111689090
|
0.00009
|
|
NM_000642.3(AGL):c.1424G>T (p.Gly475Val)
|
rs538916479
|
0.00009
|
|
NM_000642.3(AGL):c.1602C>T (p.His534=)
|
rs563472929
|
0.00009
|
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
|
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val)
|
rs200129247
|
0.00009
|
|
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser)
|
rs146615251
|
0.00009
|
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
|
NM_000642.3(AGL):c.3696C>T (p.Asp1232=)
|
rs143076729
|
0.00009
|
|
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr)
|
rs760699630
|
0.00009
|
|
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly)
|
rs761264157
|
0.00009
|
|
NM_000642.3(AGL):c.766C>T (p.Arg256Cys)
|
rs757347826
|
0.00009
|
|
NM_000891.3(KCNJ2):c.-195C>G
|
rs544342049
|
0.00009
|
|
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)
|
rs140274795
|
0.00009
|
|
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)
|
rs768120590
|
0.00009
|
|
NM_000925.4(PDHB):c.501G>T (p.Gly167=)
|
rs759053641
|
0.00009
|
|
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr)
|
rs148834880
|
0.00009
|
|
NM_001040716.2(PC):c.2586T>C (p.Tyr862=)
|
rs191620803
|
0.00009
|
|
NM_001040716.2(PC):c.2718+14G>A
|
rs745905844
|
0.00009
|
|
NM_001041.4(SI):c.*217A>C
|
rs577252976
|
0.00009
|
|
NM_001041.4(SI):c.1686T>C (p.Tyr562=)
|
rs763063946
|
0.00009
|
|
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)
|
rs149898910
|
0.00009
|
|
NM_001041.4(SI):c.4000-18A>G
|
rs764830211
|
0.00009
|
|
NM_001041.4(SI):c.749G>A (p.Arg250His)
|
rs530009542
|
0.00009
|
|
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val)
|
rs527442928
|
0.00009
|
|
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met)
|
rs201233141
|
0.00009
|
|
NM_001160372.4(TRAPPC9):c.2556+7T>G
|
rs185632960
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.*7T>G
|
rs369243698
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.-504G>A
|
rs1045560610
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
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_001360016.2(G6PD):c.*25C>T
|
rs781866772
|
0.00009
|
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
|
NM_001365304.2(LOC112694756):c.*1705G>A
|
rs539833998
|
0.00009
|
|
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)
|
rs375269956
|
0.00009
|
|
NM_001366110.1(PAX4):c.498C>T (p.His166=)
|
rs143156250
|
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_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
|
NM_001715.3(BLK):c.620-11C>T
|
rs764915190
|
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_001931.5(DLAT):c.1374G>A (p.Leu458=)
|
rs147264946
|
0.00009
|
|
NM_001931.5(DLAT):c.1692G>A (p.Thr564=)
|
rs185907405
|
0.00009
|
|
NM_002076.4(GNS):c.*2656G>A
|
rs577212739
|
0.00009
|
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
|
NM_002294.3(LAMP2):c.*2005C>G
|
rs200014321
|
0.00009
|
|
NM_002294.3(LAMP2):c.*4763A>T
|
rs761928368
|
0.00009
|
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
|
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys)
|
rs752321157
|
0.00009
|
|
NM_002294.3(LAMP2):c.42C>T (p.Leu14=)
|
rs727503122
|
0.00009
|
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
|
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)
|
rs374623829
|
0.00009
|
|
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)
|
rs148593528
|
0.00009
|
|
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)
|
rs147634094
|
0.00009
|
|
NM_002591.4(PCK1):c.102C>T (p.Asn34=)
|
rs200771350
|
0.00009
|
|
NM_002591.4(PCK1):c.538G>A (p.Val180Ile)
|
rs367998997
|
0.00009
|
|
NM_002637.4(PHKA1):c.*1303T>C
|
rs782190105
|
0.00009
|
|
NM_002637.4(PHKA1):c.*674A>C
|
rs1028190311
|
0.00009
|
|
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys)
|
rs1474761630
|
0.00009
|
|
NM_002863.5(PYGL):c.1119C>T (p.Phe373=)
|
rs151022264
|
0.00009
|
|
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)
|
rs143874850
|
0.00009
|
|
NM_003384.3(VRK1):c.216+19A>G
|
rs200465413
|
0.00009
|
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
|
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)
|
rs146456454
|
0.00009
|
|
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)
|
rs148117169
|
0.00009
|
|
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser)
|
rs121912645
|
0.00009
|
|
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)
|
rs146486664
|
0.00009
|
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
|
NM_004130.4(GYG1):c.45C>T (p.Tyr15=)
|
rs201443260
|
0.00009
|
|
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)
|
rs746892694
|
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_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
|
NM_005566.4(LDHA):c.162C>T (p.Ile54=)
|
rs200075826
|
0.00009
|
|
NM_005566.4(LDHA):c.435C>T (p.Tyr145=)
|
rs770829264
|
0.00009
|
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
|
NM_005609.4(PYGM):c.-20C>T
|
rs71581796
|
0.00009
|
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
|
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
|
rs140016055
|
0.00009
|
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
|
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
|
rs370002189
|
0.00009
|
|
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
|
rs376879093
|
0.00009
|
|
NM_006516.4(SLC2A1):c.*463T>C
|
rs186437621
|
0.00009
|
|
NM_006516.4(SLC2A1):c.*651G>T
|
rs886046337
|
0.00009
|
|
NM_006516.4(SLC2A1):c.*784A>G
|
rs886046335
|
0.00009
|
|
NM_006516.4(SLC2A1):c.-26G>C
|
rs375001117
|
0.00009
|
|
NM_006516.4(SLC2A1):c.1282C>T (p.Leu428=)
|
rs137868589
|
0.00009
|
|
NM_006516.4(SLC2A1):c.18+14C>T
|
rs970369883
|
0.00009
|
|
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)
|
rs369444528
|
0.00009
|
|
NM_006618.5(KDM5B):c.2474+1G>A
|
rs542983923
|
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_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)
|
rs747385791
|
0.00009
|
|
NM_015275.3(WASHC4):c.2423G>A (p.Arg808Gln)
|
rs746822124
|
0.00009
|
|
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg)
|
rs369855750
|
0.00009
|
|
NM_015957.4(APIP):c.-18G>A
|
rs761199870
|
0.00009
|
|
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=)
|
rs376450705
|
0.00009
|
|
NM_016203.4(PRKAG2):c.187-4G>A
|
rs752294420
|
0.00009
|
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
|
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=)
|
rs397517276
|
0.00009
|
|
NM_016203.4(PRKAG2):c.819C>T (p.Ile273=)
|
rs764244463
|
0.00009
|
|
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=)
|
rs142836717
|
0.00009
|
|
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met)
|
rs150734795
|
0.00009
|
|
NM_016219.5(MAN1B1):c.621-5C>T
|
rs200585294
|
0.00009
|
|
NM_016219.5(MAN1B1):c.731-4C>T
|
rs368940533
|
0.00009
|
|
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)
|
rs375624381
|
0.00009
|
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
|
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)
|
rs121918419
|
0.00009
|
|
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)
|
rs368553507
|
0.00009
|
|
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His)
|
rs150032325
|
0.00009
|
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
|
NM_053013.4(ENO3):c.240+8G>A
|
rs768540512
|
0.00009
|
|
NM_053013.4(ENO3):c.934A>C (p.Asn312His)
|
rs145968147
|
0.00009
|
|
NM_138413.4(HOGA1):c.*1047T>C
|
rs537101942
|
0.00009
|
|
NM_138413.4(HOGA1):c.284G>A (p.Arg95His)
|
rs754634699
|
0.00009
|
|
NM_138413.4(HOGA1):c.860G>T (p.Gly287Val)
|
rs138207257
|
0.00009
|
|
NM_144563.3(RPIA):c.57C>T (p.Pro19=)
|
rs780586313
|
0.00009
|
|
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu)
|
rs758823918
|
0.00009
|
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
|
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)
|
rs199906865
|
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_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
|
NM_175914.5(HNF4A):c.408G>A (p.Ala136=)
|
rs374298096
|
0.00009
|
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
|
NM_000030.3(AGXT):c.567C>T (p.Gly189=)
|
rs373612587
|
0.00008
|
|
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
|
rs200382297
|
0.00008
|
|
NM_000035.4(ALDOB):c.590A>G (p.His197Arg)
|
rs368140282
|
0.00008
|
|
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
|
rs747829428
|
0.00008
|
|
NM_000046.5(ARSB):c.454C>T (p.Arg152Trp)
|
rs991104525
|
0.00008
|
|
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
|
rs755631948
|
0.00008
|
|
NM_000108.5(DLD):c.1452T>C (p.Cys484=)
|
rs760982359
|
0.00008
|
|
NM_000147.5(FUCA1):c.1077G>A (p.Gly359=)
|
rs777813005
|
0.00008
|
|
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp)
|
rs375270869
|
0.00008
|
|
NM_000147.5(FUCA1):c.970-20A>G
|
rs371684711
|
0.00008
|
|
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
|
rs201520075
|
0.00008
|
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
|
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
|
rs772250523
|
0.00008
|
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
|
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
|
rs200544679
|
0.00008
|
|
NM_000158.4(GBE1):c.1995C>T (p.His665=)
|
rs201515305
|
0.00008
|
|
NM_000181.4(GUSB):c.211-18C>T
|
rs774828816
|
0.00008
|
|
NM_000199.5(SGSH):c.1104C>T (p.His368=)
|
rs111800668
|
0.00008
|
|
NM_000199.5(SGSH):c.155C>T (p.Ala52Val)
|
rs758203457
|
0.00008
|
|
NM_000202.8(IDS):c.1006+8T>C
|
rs782781942
|
0.00008
|
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
|
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr)
|
rs376725292
|
0.00008
|
|
NM_000202.8(IDS):c.304C>T (p.Leu102=)
|
rs782790524
|
0.00008
|
|
NM_000202.8(IDS):c.929A>G (p.Gln310Arg)
|
rs782210625
|
0.00008
|
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
|
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)
|
rs373037758
|
0.00008
|
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
|
NM_000208.4(INSR):c.2829C>T (p.Tyr943=)
|
rs376766937
|
0.00008
|
|
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr)
|
rs372146176
|
0.00008
|
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
|
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
|
rs146734024
|
0.00008
|
|
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
|
rs144967854
|
0.00008
|
|
NM_000284.4(PDHA1):c.418+8G>A
|
rs779583146
|
0.00008
|
|
NM_000284.4(PDHA1):c.708G>A (p.Ala236=)
|
rs750307419
|
0.00008
|
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
|
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
|
NM_000289.6(PFKM):c.1992+5G>A
|
rs180864041
|
0.00008
|
|
NM_000291.4(PGK1):c.129T>C (p.Ala43=)
|
rs781822299
|
0.00008
|
|
NM_000293.3(PHKB):c.*1783A>G
|
rs886052032
|
0.00008
|
|
NM_000293.3(PHKB):c.1387G>C (p.Asp463His)
|
rs150683838
|
0.00008
|
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
|
NM_000293.3(PHKB):c.321C>T (p.Asp107=)
|
rs148782229
|
0.00008
|
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
|
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)
|
rs535265672
|
0.00008
|
|
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
|
rs368108194
|
0.00008
|
|
NM_000340.2(SLC2A2):c.*960T>G
|
rs971689457
|
0.00008
|
|
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
|
rs375465762
|
0.00008
|
|
NM_000343.4(SLC5A1):c.*636A>G
|
rs932433422
|
0.00008
|
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
|
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)
|
rs150956385
|
0.00008
|
|
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
|
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)
|
rs377045545
|
0.00008
|
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
|
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
|
rs562680077
|
0.00008
|
|
NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)
|
rs544133684
|
0.00008
|
|
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)
|
rs770317560
|
0.00008
|
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
|
NM_000365.6(TPI1):c.*519T>C
|
rs377186570
|
0.00008
|
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
|
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)
|
rs770982909
|
0.00008
|
|
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)
|
rs779375959
|
0.00008
|
|
NM_000507.4(FBP1):c.826-9G>C
|
rs200948424
|
0.00008
|
|
NM_000512.5(GALNS):c.1003-19T>C
|
rs368105385
|
0.00008
|
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
|
NM_000512.5(GALNS):c.969C>T (p.Leu323=)
|
rs373218044
|
0.00008
|
|
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)
|
rs770375846
|
0.00008
|
|
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)
|
rs201264306
|
0.00008
|
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
|
NM_000528.4(MAN2B1):c.1929-16C>T
|
rs774404642
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
|
rs201600797
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2640T>C (p.Asn880=)
|
rs763786776
|
0.00008
|
|
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=)
|
rs199592101
|
0.00008
|
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
|
NM_000545.8(HNF1A):c.1309+247G>A
|
rs587777934
|
0.00008
|
|
NM_000545.8(HNF1A):c.1593C>T (p.Ser531=)
|
rs370300688
|
0.00008
|
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
|
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
|
rs1257997077
|
0.00008
|
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
|
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
|
rs1430797073
|
0.00008
|
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
|
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)
|
rs375254875
|
0.00008
|
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
|
NM_000891.3(KCNJ2):c.*1815G>A
|
rs552577704
|
0.00008
|
|
NM_001040716.2(PC):c.1874G>A (p.Arg625Gln)
|
rs199568784
|
0.00008
|
|
NM_001040716.2(PC):c.474C>T (p.Ile158=)
|
rs767537673
|
0.00008
|
|
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
|
rs145913658
|
0.00008
|
|
NM_001041.4(SI):c.3905G>C (p.Gly1302Ala)
|
rs780497188
|
0.00008
|
|
NM_001041.4(SI):c.801T>C (p.Pro267=)
|
rs752564085
|
0.00008
|
|
NM_001041.4(SI):c.808-14T>A
|
rs762854920
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=)
|
rs372405501
|
0.00008
|
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
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_001360016.2(G6PD):c.1051+16G>A
|
rs782637386
|
0.00008
|
|
NM_001360016.2(G6PD):c.120+7A>C
|
rs369904290
|
0.00008
|
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
|
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)
|
rs369482861
|
0.00008
|
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
|
NM_001366110.1(PAX4):c.14-51G>A
|
rs878919319
|
0.00008
|
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
|
NM_001715.3(BLK):c.-124C>T
|
rs886062593
|
0.00008
|
|
NM_001739.2(CA5A):c.624G>A (p.Ala208=)
|
rs370926490
|
0.00008
|
|
NM_002076.4(GNS):c.*3dup
|
rs766104697
|
0.00008
|
|
NM_002076.4(GNS):c.143A>G (p.Asn48Ser)
|
rs370011049
|
0.00008
|
|
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)
|
rs138355639
|
0.00008
|
|
NM_002076.4(GNS):c.193-9C>T
|
rs372633889
|
0.00008
|
|
NM_002076.4(GNS):c.223G>A (p.Gly75Arg)
|
rs371990029
|
0.00008
|
|
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
|
rs139536679
|
0.00008
|
|
NM_002103.5(GYS1):c.1083A>G (p.Thr361=)
|
rs149865396
|
0.00008
|
|
NM_002103.5(GYS1):c.1551T>G (p.Ala517=)
|
rs368021148
|
0.00008
|
|
NM_002103.5(GYS1):c.441G>A (p.Glu147=)
|
rs115793204
|
0.00008
|
|
NM_002103.5(GYS1):c.987C>T (p.Ala329=)
|
rs180906371
|
0.00008
|
|
NM_002294.3(LAMP2):c.*2794T>C
|
rs368937075
|
0.00008
|
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
|
NM_002591.4(PCK1):c.1320T>C (p.Gly440=)
|
rs140553751
|
0.00008
|
|
NM_002637.4(PHKA1):c.1998C>T (p.His666=)
|
rs368673487
|
0.00008
|
|
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)
|
rs368071005
|
0.00008
|
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
|
NM_002637.4(PHKA1):c.538-20T>C
|
rs782786358
|
0.00008
|
|
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
|
rs1382212255
|
0.00008
|
|
NM_003041.4(SLC5A2):c.*70C>G
|
rs867270650
|
0.00008
|
|
NM_003041.4(SLC5A2):c.469-3A>T
|
rs369221516
|
0.00008
|
|
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)
|
rs267607067
|
0.00008
|
|
NM_003477.2(PDHX):c.-162C>A
|
rs759318998
|
0.00008
|
|
NM_003597.5(KLF11):c.1161C>T (p.Asp387=)
|
rs117449189
|
0.00008
|
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
|
NM_004130.4(GYG1):c.610T>C (p.Phe204Leu)
|
rs567161281
|
0.00008
|
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
|
NM_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
|
NM_005609.4(PYGM):c.120C>T (p.Leu40=)
|
rs370819554
|
0.00008
|
|
NM_005609.4(PYGM):c.1347G>T (p.Gly449=)
|
rs141152121
|
0.00008
|
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
|
NM_005908.4(MANBA):c.1916G>A (p.Arg639His)
|
rs536744758
|
0.00008
|
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
|
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)
|
rs377674001
|
0.00008
|
|
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=)
|
rs201989024
|
0.00008
|
|
NM_006755.2(TALDO1):c.-6C>T
|
rs762014857
|
0.00008
|
|
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)
|
rs144914498
|
0.00008
|
|
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
|
rs374709255
|
0.00008
|
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
|
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=)
|
rs757727533
|
0.00008
|
|
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala)
|
rs200860565
|
0.00008
|
|
NM_017755.6(NSUN2):c.*202C>T
|
rs932103254
|
0.00008
|
|
NM_017755.6(NSUN2):c.*622T>A
|
rs757183970
|
0.00008
|
|
NM_021957.4(GYS2):c.615C>T (p.His205=)
|
rs569279347
|
0.00008
|
|
NM_024989.4(PGAP1):c.36G>A (p.Ala12=)
|
rs755772242
|
0.00008
|
|
NM_024989.4(PGAP1):c.650-6C>T
|
rs371032957
|
0.00008
|
|
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)
|
rs200757913
|
0.00008
|
|
NM_031229.4(RBCK1):c.738G>T (p.Ala246=)
|
rs2281553
|
0.00008
|
|
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu)
|
rs772748227
|
0.00008
|
|
NM_033159.4(HYAL1):c.981A>G (p.Thr327=)
|
rs146431309
|
0.00008
|
|
NM_053013.4(ENO3):c.1093dup (p.Trp365fs)
|
rs771868807
|
0.00008
|
|
NM_053013.4(ENO3):c.698C>T (p.Ala233Val)
|
rs142982636
|
0.00008
|
|
NM_138413.4(HOGA1):c.*550A>G
|
rs991121870
|
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_153281.2(HYAL1):c.-90C>T
|
rs886058694
|
0.00008
|
|
NM_153747.2(PIGC):c.812G>A (p.Arg271His)
|
rs370905635
|
0.00008
|
|
NM_175914.5(HNF4A):c.427-20C>T
|
rs184217112
|
0.00008
|
|
NM_198586.3(NHLRC1):c.933G>T (p.Gly311=)
|
rs527299943
|
0.00008
|
|
NM_000027.4(AGA):c.127+13G>A
|
rs376430029
|
0.00007
|
|
NM_000027.4(AGA):c.622+20G>T
|
rs200102826
|
0.00007
|
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
|
NM_000035.4(ALDOB):c.*503T>C
|
rs954756064
|
0.00007
|
|
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp)
|
rs150407710
|
0.00007
|
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
|
NM_000108.5(DLD):c.119-4G>A
|
rs376605135
|
0.00007
|
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
|
NM_000151.4(G6PC1):c.*680G>A
|
rs973632286
|
0.00007
|
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
|
NM_000152.5(GAA):c.1636+8C>T
|
rs572293131
|
0.00007
|
|
NM_000152.5(GAA):c.2157G>A (p.Ala719=)
|
rs201523530
|
0.00007
|
|
NM_000152.5(GAA):c.2189+10C>T
|
rs750905127
|
0.00007
|
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
|
NM_000158.4(GBE1):c.1389G>A (p.Thr463=)
|
rs757933285
|
0.00007
|
|
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
|
rs762480067
|
0.00007
|
|
NM_000158.4(GBE1):c.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
|
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr)
|
rs752854143
|
0.00007
|
|
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)
|
rs121918181
|
0.00007
|
|
NM_000199.5(SGSH):c.355+11C>T
|
rs529329090
|
0.00007
|
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
|
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)
|
rs141037133
|
0.00007
|
|
NM_000202.8(IDS):c.421A>T (p.Ile141Leu)
|
rs781999172
|
0.00007
|
|
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
|
rs371369206
|
0.00007
|
|
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
|
rs762825338
|
0.00007
|
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
|
NM_000209.4(PDX1):c.498A>G (p.Leu166=)
|
rs780117858
|
0.00007
|
|
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
|
rs760335984
|
0.00007
|
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
|
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=)
|
rs773338429
|
0.00007
|
|
NM_000284.4(PDHA1):c.217C>A (p.Arg73=)
|
rs761538559
|
0.00007
|
|
NM_000289.6(PFKM):c.594-18T>A
|
rs372899080
|
0.00007
|
|
NM_000290.4(PGAM2):c.264T>C (p.Asn88=)
|
rs146272559
|
0.00007
|
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
|
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
|
rs746875668
|
0.00007
|
|
NM_000292.3(PHKA2):c.1793+18T>A
|
rs567115484
|
0.00007
|
|
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)
|
rs199948654
|
0.00007
|
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
|
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)
|
rs371296953
|
0.00007
|
|
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
|
rs367711698
|
0.00007
|
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
|
NM_000308.4(CTSA):c.1088+5G>C
|
rs377189450
|
0.00007
|
|
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
|
rs771327084
|
0.00007
|
|
NM_000308.4(CTSA):c.938T>C (p.Met313Thr)
|
rs759949142
|
0.00007
|
|
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
|
rs191885528
|
0.00007
|
|
NM_000340.2(SLC2A2):c.372-16C>T
|
rs372176041
|
0.00007
|
|
NM_000340.2(SLC2A2):c.496+6_496+7dup
|
rs111737375
|
0.00007
|
|
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg)
|
rs200401846
|
0.00007
|
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
|
NM_000343.4(SLC5A1):c.537A>G (p.Leu179=)
|
rs373939295
|
0.00007
|
|
NM_000352.3(ABCC8):c.-113G>A
|
rs886048056
|
0.00007
|
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
|
NM_000352.6(ABCC8):c.2094C>T (p.Asn698=)
|
rs757172850
|
0.00007
|
|
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)
|
rs200693100
|
0.00007
|
|
NM_000352.6(ABCC8):c.393C>T (p.Asn131=)
|
rs372524091
|
0.00007
|
|
NM_000404.4(GLB1):c.402A>T (p.Gly134=)
|
rs371195938
|
0.00007
|
|
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
|
rs368139032
|
0.00007
|
|
NM_000458.4(HNF1B):c.1534+10C>T
|
rs368168569
|
0.00007
|
|
NM_000512.5(GALNS):c.120+14G>A
|
rs368397682
|
0.00007
|
|
NM_000525.4(KCNJ11):c.726C>T (p.Asn242=)
|
rs72554078
|
0.00007
|
|
NM_000528.4(MAN2B1):c.1419+11C>A
|
rs375081677
|
0.00007
|
|
NM_000528.4(MAN2B1):c.2046+2T>A
|
rs748712495
|
0.00007
|
|
NM_000528.4(MAN2B1):c.2047-12G>A
|
rs769284524
|
0.00007
|
|
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp)
|
rs927024699
|
0.00007
|
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
|
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)
|
rs775391034
|
0.00007
|
|
NM_000642.3(AGL):c.*292A>G
|
rs541731841
|
0.00007
|
|
NM_000642.3(AGL):c.*400T>C
|
rs541803127
|
0.00007
|
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
|
NM_000642.3(AGL):c.2546+9A>G
|
rs541210799
|
0.00007
|
|
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
|
rs369044372
|
0.00007
|
|
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
|
rs568139822
|
0.00007
|
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
|
NM_000642.3(AGL):c.4164C>G (p.Ala1388=)
|
rs142809832
|
0.00007
|
|
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
|
rs779560460
|
0.00007
|
|
NM_000642.3(AGL):c.4525C>T (p.Gln1509Ter)
|
rs1480850606
|
0.00007
|
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
|
NM_000891.3(KCNJ2):c.*2616A>G
|
rs542407766
|
0.00007
|
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
|
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
|
rs202067116
|
0.00007
|
|
NM_000925.4(PDHB):c.-4C>T
|
rs778465584
|
0.00007
|
|
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
|
rs569429778
|
0.00007
|
|
NM_000925.4(PDHB):c.669T>C (p.Ile223=)
|
rs573987651
|
0.00007
|
|
NM_001008216.2(GALE):c.237+20G>A
|
rs370761057
|
0.00007
|
|
NM_001008216.2(GALE):c.795+8G>C
|
rs374975277
|
0.00007
|
|
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
|
rs940286072
|
0.00007
|
|
NM_001040716.2(PC):c.1513+10G>A
|
rs200660481
|
0.00007
|
|
NM_001040716.2(PC):c.1833G>A (p.Thr611=)
|
rs138796998
|
0.00007
|
|
NM_001040716.2(PC):c.322-10C>T
|
rs371834866
|
0.00007
|
|
NM_001040716.2(PC):c.3321C>T (p.Asp1107=)
|
rs758911778
|
0.00007
|
|
NM_001040716.2(PC):c.50G>A (p.Arg17His)
|
rs375282341
|
0.00007
|
|
NM_001040716.2(PC):c.918C>T (p.Asn306=)
|
rs372125858
|
0.00007
|
|
NM_001041.4(SI):c.5049A>G (p.Leu1683=)
|
rs199658617
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.626+25C>T
|
rs533221443
|
0.00007
|
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
|
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)
|
rs368207656
|
0.00007
|
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
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_001360016.2(G6PD):c.1052-19T>C
|
rs782238350
|
0.00007
|
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
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_001715.3(BLK):c.859G>A (p.Val287Met)
|
rs1042687
|
0.00007
|
|
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
|
rs377314096
|
0.00007
|
|
NM_001931.5(DLAT):c.1290+17C>T
|
rs374530178
|
0.00007
|
|
NM_001931.5(DLAT):c.177C>T (p.Cys59=)
|
rs150994149
|
0.00007
|
|
NM_001931.5(DLAT):c.506+12G>A
|
rs372355218
|
0.00007
|
|
NM_001931.5(DLAT):c.870C>T (p.Leu290=)
|
rs587754043
|
0.00007
|
|
NM_002076.4(GNS):c.1201-9T>C
|
rs775176361
|
0.00007
|
|
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)
|
rs745307029
|
0.00007
|
|
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)
|
rs144681053
|
0.00007
|
|
NM_002103.5(GYS1):c.300+7C>T
|
rs759904590
|
0.00007
|
|
NM_002103.5(GYS1):c.556G>A (p.Val186Ile)
|
rs138330298
|
0.00007
|
|
NM_002294.3(LAMP2):c.*1191A>T
|
rs1004327482
|
0.00007
|
|
NM_002294.3(LAMP2):c.*4004C>T
|
rs1001857275
|
0.00007
|
|
NM_002294.3(LAMP2):c.*4006G>T
|
rs905784906
|
0.00007
|
|
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro)
|
rs371174243
|
0.00007
|
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
|
NM_002300.8(LDHB):c.130-8G>A
|
rs369064312
|
0.00007
|
|
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)
|
rs767837260
|
0.00007
|
|
NM_002591.4(PCK1):c.1268C>T (p.Pro423Leu)
|
rs148603002
|
0.00007
|
|
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys)
|
rs782509826
|
0.00007
|
|
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
|
rs781878909
|
0.00007
|
|
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
|
rs782528091
|
0.00007
|
|
NM_002863.5(PYGL):c.1092+11T>G
|
rs781337096
|
0.00007
|
|
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=)
|
rs201859484
|
0.00007
|
|
NM_003477.2(PDHX):c.-155G>A
|
rs886048246
|
0.00007
|
|
NM_003597.5(KLF11):c.*1301C>G
|
rs886054731
|
0.00007
|
|
NM_003597.5(KLF11):c.*217G>T
|
rs201145049
|
0.00007
|
|
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)
|
rs766187124
|
0.00007
|
|
NM_003619.4(PRSS12):c.*1660T>C
|
rs372099887
|
0.00007
|
|
NM_003619.4(PRSS12):c.936C>T (p.Ala312=)
|
rs12505679
|
0.00007
|
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
|
NM_005566.4(LDHA):c.127-14T>C
|
rs764597107
|
0.00007
|
|
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)
|
rs749358752
|
0.00007
|
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
|
NM_005609.4(PYGM):c.2031C>T (p.Thr677=)
|
rs372078244
|
0.00007
|
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
|
NM_005609.4(PYGM):c.2379+8G>A
|
rs536129249
|
0.00007
|
|
NM_005908.4(MANBA):c.303G>A (p.Glu101=)
|
rs113552770
|
0.00007
|
|
NM_006516.2(SLC2A1):c.-510G>C
|
rs886046347
|
0.00007
|
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
|
NM_006516.4(SLC2A1):c.*609G>C
|
rs1020397288
|
0.00007
|
|
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=)
|
rs147319894
|
0.00007
|
|
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)
|
rs186015859
|
0.00007
|
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
|
NM_006859.4(LIAS):c.1116C>G (p.Leu372=)
|
rs376183576
|
0.00007
|
|
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter)
|
rs774654020
|
0.00007
|
|
NM_012203.2(GRHPR):c.180C>T (p.Ser60=)
|
rs139689525
|
0.00007
|
|
NM_012203.2(GRHPR):c.846C>G (p.Leu282=)
|
rs146293016
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
|
NM_016203.4(PRKAG2):c.1641G>T (p.Leu547=)
|
rs764198777
|
0.00007
|
|
NM_016203.4(PRKAG2):c.187-16G>A
|
rs762396341
|
0.00007
|
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
|
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=)
|
rs781675627
|
0.00007
|
|
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn)
|
rs775641463
|
0.00007
|
|
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr)
|
rs202025962
|
0.00007
|
|
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)
|
rs199809707
|
0.00007
|
|
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)
|
rs753237558
|
0.00007
|
|
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
|
rs575392530
|
0.00007
|
|
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
|
rs376438608
|
0.00007
|
|
NM_033159.4(HYAL1):c.1050C>T (p.Asn350=)
|
rs148913295
|
0.00007
|
|
NM_033159.4(HYAL1):c.936C>T (p.Ala312=)
|
rs375213606
|
0.00007
|
|
NM_053013.4(ENO3):c.1235+7C>T
|
rs759839410
|
0.00007
|
|
NM_053013.4(ENO3):c.760A>C (p.Asn254His)
|
rs561878819
|
0.00007
|
|
NM_138413.4(HOGA1):c.*186C>T
|
rs576078709
|
0.00007
|
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
|
NM_138501.6(TECR):c.262G>T (p.Val88Leu)
|
rs753690636
|
0.00007
|
|
NM_152419.3(HGSNAT):c.*1215C>T
|
rs571287184
|
0.00007
|
|
NM_152419.3(HGSNAT):c.*1854C>T
|
rs567024411
|
0.00007
|
|
NM_152419.3(HGSNAT):c.*851A>G
|
rs192792114
|
0.00007
|
|
NM_175914.5(HNF4A):c.*3018G>A
|
rs533361991
|
0.00007
|
|
NM_175914.5(HNF4A):c.1064-19C>T
|
rs202202465
|
0.00007
|
|
NM_198150.3(ARSK):c.250C>T (p.Arg84Cys)
|
rs147168858
|
0.00007
|
|
NM_198586.3(NHLRC1):c.*797A>G
|
rs886061250
|
0.00007
|
|
NC_000008.11:g.11474238G>A
|
rs886037620
|
0.00006
|
|
NM_000027.4(AGA):c.*207T>C
|
rs546644917
|
0.00006
|
|
NM_000027.4(AGA):c.105C>G (p.Pro35=)
|
rs199757656
|
0.00006
|
|
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
|
rs367968495
|
0.00006
|
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
|
NM_000027.4(AGA):c.794G>A (p.Arg265His)
|
rs375663828
|
0.00006
|
|
NM_000030.3(AGXT):c.*160G>A
|
rs776483024
|
0.00006
|
|
NM_000030.3(AGXT):c.1002C>T (p.Asp334=)
|
rs370897272
|
0.00006
|
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
|
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
|
rs754637713
|
0.00006
|
|
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
|
rs376844297
|
0.00006
|
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
|
NM_000030.3(AGXT):c.762C>T (p.Asp254=)
|
rs375038017
|
0.00006
|
|
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
|
NM_000030.3(AGXT):c.888G>A (p.Ala296=)
|
rs979513298
|
0.00006
|
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
|
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser)
|
rs759204107
|
0.00006
|
|
NM_000035.4(ALDOB):c.501C>T (p.Asn167=)
|
rs186836225
|
0.00006
|
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
|
NM_000046.5(ARSB):c.*1513C>T
|
rs886060786
|
0.00006
|
|
NM_000046.5(ARSB):c.*2287C>T
|
rs886060782
|
0.00006
|
|
NM_000046.5(ARSB):c.*2684G>A
|
rs188859845
|
0.00006
|
|
NM_000046.5(ARSB):c.*635C>G
|
rs534480571
|
0.00006
|
|
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
|
rs778672342
|
0.00006
|
|
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)
|
rs201928777
|
0.00006
|
|
NM_000046.5(ARSB):c.550A>G (p.Ile184Val)
|
rs371812342
|
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_000147.5(FUCA1):c.1179G>A (p.Ser393=)
|
rs370306169
|
0.00006
|
|
NM_000147.5(FUCA1):c.861C>T (p.Ser287=)
|
rs200962094
|
0.00006
|
|
NM_000151.4(G6PC1):c.*119C>T
|
rs886052957
|
0.00006
|
|
NM_000151.4(G6PC1):c.*2311C>T
|
rs372226654
|
0.00006
|
|
NM_000151.4(G6PC1):c.*607G>A
|
rs886052960
|
0.00006
|
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
|
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
|
rs369472089
|
0.00006
|
|
NM_000151.4(G6PC1):c.340+13del
|
rs781668568
|
0.00006
|
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
|
NM_000152.5(GAA):c.1143C>T (p.Thr381=)
|
rs111832449
|
0.00006
|
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
|
NM_000152.5(GAA):c.318C>T (p.Arg106=)
|
rs762542246
|
0.00006
|
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
|
NM_000152.5(GAA):c.693-5C>T
|
rs763538104
|
0.00006
|
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
|
NM_000152.5(GAA):c.858+15G>A
|
rs754760986
|
0.00006
|
|
NM_000152.5(GAA):c.858+24G>C
|
rs770608668
|
0.00006
|
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
|
NM_000152.5(GAA):c.953T>C (p.Met318Thr)
|
rs121907936
|
0.00006
|
|
NM_000152.5(GAA):c.955+15G>A
|
rs778687044
|
0.00006
|
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
|
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
|
rs144915547
|
0.00006
|
|
NM_000154.2(GALK1):c.657C>T (p.Ala219=)
|
rs754593748
|
0.00006
|
|
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
|
rs541580127
|
0.00006
|
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
|
NM_000155.4(GALT):c.252+9G>A
|
rs200439493
|
0.00006
|
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
|
NM_000155.4(GALT):c.821-46G>T
|
rs111033776
|
0.00006
|
|
NM_000158.4(GBE1):c.*460C>T
|
rs771301034
|
0.00006
|
|
NM_000158.4(GBE1):c.*558T>C
|
rs886058899
|
0.00006
|
|
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala)
|
rs756129254
|
0.00006
|
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
|
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)
|
rs761908536
|
0.00006
|
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
|
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys)
|
rs571116428
|
0.00006
|
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
|
NM_000162.5(GCK):c.561C>T (p.Asp187=)
|
rs754722633
|
0.00006
|
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
|
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
|
rs758070679
|
0.00006
|
|
NM_000181.4(GUSB):c.1066-5C>T
|
rs376501876
|
0.00006
|
|
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn)
|
rs200149500
|
0.00006
|
|
NM_000181.4(GUSB):c.678C>T (p.Thr226=)
|
rs537957979
|
0.00006
|
|
NM_000181.4(GUSB):c.807C>T (p.Val269=)
|
rs571704452
|
0.00006
|
|
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn)
|
rs760452541
|
0.00006
|
|
NM_000199.5(SGSH):c.*834A>G
|
rs1022741298
|
0.00006
|
|
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)
|
rs76375023
|
0.00006
|
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
|
NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu)
|
rs766272590
|
0.00006
|
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
|
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr)
|
rs199643693
|
0.00006
|
|
NM_000199.5(SGSH):c.410C>T (p.Ala137Val)
|
rs367805575
|
0.00006
|
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
|
NM_000199.5(SGSH):c.840C>T (p.Ser280=)
|
rs146904798
|
0.00006
|
|
NM_000202.8(IDS):c.27C>T (p.Gly9=)
|
rs782412902
|
0.00006
|
|
NM_000202.8(IDS):c.357C>T (p.Ile119=)
|
rs782362742
|
0.00006
|
|
NM_000202.8(IDS):c.419-10T>G
|
rs782082376
|
0.00006
|
|
NM_000202.8(IDS):c.753C>T (p.Pro251=)
|
rs782051908
|
0.00006
|
|
NM_000202.8(IDS):c.937C>T (p.Arg313Cys)
|
rs201048643
|
0.00006
|
|
NM_000202.8(IDS):c.950C>A (p.Ala317Asp)
|
rs374576277
|
0.00006
|
|
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)
|
rs753372554
|
0.00006
|
|
NM_000203.5(IDUA):c.1190-16C>T
|
rs1189052495
|
0.00006
|
|
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
|
rs866224971
|
0.00006
|
|
NM_000203.5(IDUA):c.1403-6C>G
|
rs764919689
|
0.00006
|
|
NM_000203.5(IDUA):c.1773G>A (p.Ala591=)
|
rs148894462
|
0.00006
|
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
|
NM_000203.5(IDUA):c.765G>C (p.Arg255=)
|
rs965929339
|
0.00006
|
|
NM_000203.5(IDUA):c.894C>T (p.Asp298=)
|
rs1031564096
|
0.00006
|
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
|
NM_000207.3(INS):c.*2C>T
|
rs200306755
|
0.00006
|
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
|
NM_000208.4(INSR):c.1628C>T (p.Thr543Met)
|
rs767160876
|
0.00006
|
|
NM_000262.3(NAGA):c.*1501C>G
|
rs750373836
|
0.00006
|
|
NM_000262.3(NAGA):c.*55C>T
|
rs1004630693
|
0.00006
|
|
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)
|
rs376933189
|
0.00006
|
|
NM_000262.3(NAGA):c.324+7C>T
|
rs372174335
|
0.00006
|
|
NM_000262.3(NAGA):c.502+8A>T
|
rs375946807
|
0.00006
|
|
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)
|
rs140356002
|
0.00006
|
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
|
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
|
rs202033889
|
0.00006
|
|
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
|
rs200496310
|
0.00006
|
|
NM_000284.4(PDHA1):c.*1347C>T
|
rs1241045421
|
0.00006
|
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
|
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val)
|
rs950246136
|
0.00006
|
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
|
NM_000289.6(PFKM):c.238-17T>A
|
rs377146498
|
0.00006
|
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
|
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
|
rs147126221
|
0.00006
|
|
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu)
|
rs151308911
|
0.00006
|
|
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
|
rs371509257
|
0.00006
|
|
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
|
rs369660945
|
0.00006
|
|
NM_000290.4(PGAM2):c.515T>G (p.Val172Gly)
|
rs370003298
|
0.00006
|
|
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser)
|
rs772187619
|
0.00006
|
|
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
|
rs752958758
|
0.00006
|
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
|
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn)
|
rs782165735
|
0.00006
|
|
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)
|
rs140703161
|
0.00006
|
|
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
|
rs747153540
|
0.00006
|
|
NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=)
|
rs773943898
|
0.00006
|
|
NM_000293.3(PHKB):c.*1839C>G
|
rs981081630
|
0.00006
|
|
NM_000293.3(PHKB):c.*1915A>G
|
rs919228154
|
0.00006
|
|
NM_000293.3(PHKB):c.1114A>G (p.Met372Val)
|
rs758968989
|
0.00006
|
|
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter)
|
rs121918021
|
0.00006
|
|
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr)
|
rs141224055
|
0.00006
|
|
NM_000293.3(PHKB):c.1599G>A (p.Glu533=)
|
rs756341301
|
0.00006
|
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
|
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met)
|
rs371541668
|
0.00006
|
|
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
|
rs370363309
|
0.00006
|
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
|
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys)
|
rs370423261
|
0.00006
|
|
NM_000294.3(PHKG2):c.96-11G>A
|
rs751600886
|
0.00006
|
|
NM_000308.4(CTSA):c.1110C>T (p.Tyr370=)
|
rs372617705
|
0.00006
|
|
NM_000308.4(CTSA):c.769G>A (p.Val257Met)
|
rs745752655
|
0.00006
|
|
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
|
rs368697828
|
0.00006
|
|
NM_000340.2(SLC2A2):c.*1260A>G
|
rs573454591
|
0.00006
|
|
NM_000343.4(SLC5A1):c.*1053G>A
|
rs376345201
|
0.00006
|
|
NM_000343.4(SLC5A1):c.*1559C>T
|
rs372572143
|
0.00006
|
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
|
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala)
|
rs200105476
|
0.00006
|
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
0.00006
|
|
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)
|
rs775001123
|
0.00006
|
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
|
NM_000352.6(ABCC8):c.2222+12A>G
|
rs534103042
|
0.00006
|
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
|
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)
|
rs202189540
|
0.00006
|
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
0.00006
|
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
|
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
|
rs765043940
|
0.00006
|
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
|
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp)
|
rs773087569
|
0.00006
|
|
NM_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
|
NM_000404.4(GLB1):c.*44C>T
|
rs199659949
|
0.00006
|
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
|
NM_000404.4(GLB1):c.1735-10C>G
|
rs766907320
|
0.00006
|
|
NM_000404.4(GLB1):c.1911G>A (p.Thr637=)
|
rs549550701
|
0.00006
|
|
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)
|
rs376710410
|
0.00006
|
|
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
|
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
|
rs766214522
|
0.00006
|
|
NM_000404.4(GLB1):c.915-17C>A
|
rs371566143
|
0.00006
|
|
NM_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
0.00006
|
|
NM_000458.4(HNF1B):c.1339+17G>A
|
rs374854968
|
0.00006
|
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
|
NM_000458.4(HNF1B):c.948C>T (p.Asp316=)
|
rs373132003
|
0.00006
|
|
NM_000507.4(FBP1):c.195C>T (p.Asn65=)
|
rs146859261
|
0.00006
|
|
NM_000507.4(FBP1):c.798C>T (p.Pro266=)
|
rs142811660
|
0.00006
|
|
NM_000507.4(FBP1):c.915C>T (p.Asp305=)
|
rs762285012
|
0.00006
|
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
|
NM_000512.5(GALNS):c.1364+6T>A
|
rs377120480
|
0.00006
|
|
NM_000512.5(GALNS):c.360G>A (p.Ser120=)
|
rs368060807
|
0.00006
|
|
NM_000512.5(GALNS):c.39G>A (p.Leu13=)
|
rs767326423
|
0.00006
|
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
|
NM_000512.5(GALNS):c.909C>T (p.Asn303=)
|
rs751446283
|
0.00006
|
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
|
NM_000525.4(KCNJ11):c.*1055T>A
|
rs886048032
|
0.00006
|
|
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)
|
rs529884745
|
0.00006
|
|
NM_000528.4(MAN2B1):c.1309+17A>C
|
rs762485011
|
0.00006
|
|
NM_000528.4(MAN2B1):c.1310-9T>C
|
rs756430947
|
0.00006
|
|
NM_000528.4(MAN2B1):c.1528-8C>T
|
rs369305495
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2607G>T (p.Val869=)
|
rs755344489
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
|
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys)
|
rs142248782
|
0.00006
|
|
NM_000528.4(MAN2B1):c.642C>T (p.Asp214=)
|
rs755806804
|
0.00006
|
|
NM_000545.8(HNF1A):c.1011C>T (p.Ser337=)
|
rs549471872
|
0.00006
|
|
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)
|
rs757068809
|
0.00006
|
|
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=)
|
rs376279459
|
0.00006
|
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00006
|
|
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)
|
rs376832928
|
0.00006
|
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
|
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser)
|
rs151256267
|
0.00006
|
|
NM_000545.8(HNF1A):c.954C>T (p.His318=)
|
rs193922607
|
0.00006
|
|
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)
|
rs538619966
|
0.00006
|
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00006
|
|
NM_000642.3(AGL):c.*1952C>T
|
rs886044934
|
0.00006
|
|
NM_000642.3(AGL):c.*99del
|
rs886044923
|
0.00006
|
|
NM_000642.3(AGL):c.-95A>G
|
rs937844168
|
0.00006
|
|
NM_000642.3(AGL):c.103T>C (p.Leu35=)
|
rs370307706
|
0.00006
|
|
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
|
rs909008103
|
0.00006
|
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
|
NM_000642.3(AGL):c.188G>A (p.Arg63His)
|
rs199958942
|
0.00006
|
|
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00006
|
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
|
NM_000642.3(AGL):c.2308+9A>G
|
rs760352106
|
0.00006
|
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00006
|
|
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser)
|
rs199554089
|
0.00006
|
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
|
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu)
|
rs747339245
|
0.00006
|
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
|
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly)
|
rs777095374
|
0.00006
|
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
|
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly)
|
rs774708890
|
0.00006
|
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
|
NM_000891.3(KCNJ2):c.*2065A>G
|
rs778894111
|
0.00006
|
|
NM_000891.3(KCNJ2):c.*3353C>T
|
rs886053346
|
0.00006
|
|
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=)
|
rs748924113
|
0.00006
|
|
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
|
rs141965142
|
0.00006
|
|
NM_000925.4(PDHB):c.*173C>T
|
rs546485141
|
0.00006
|
|
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
|
rs202185395
|
0.00006
|
|
NM_000925.4(PDHB):c.8C>T (p.Ala3Val)
|
rs536872599
|
0.00006
|
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
|
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr)
|
rs926654478
|
0.00006
|
|
NM_001008216.2(GALE):c.873+7C>A
|
rs746500876
|
0.00006
|
|
NM_001014436.3(DBNL):c.*2021C>T
|
rs372222997
|
0.00006
|
|
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)
|
rs772460402
|
0.00006
|
|
NM_001040716.2(PC):c.1512C>T (p.Leu504=)
|
rs763298490
|
0.00006
|
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
|
NM_001040716.2(PC):c.3042C>T (p.Pro1014=)
|
rs370090137
|
0.00006
|
|
NM_001040716.2(PC):c.3513C>T (p.Asp1171=)
|
rs763623526
|
0.00006
|
|
NM_001040716.2(PC):c.975C>G (p.Val325=)
|
rs374244283
|
0.00006
|
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
|
NM_001041.4(SI):c.5198-7T>C
|
rs200924086
|
0.00006
|
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.149-16G>A
|
rs373027415
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)
|
rs78735156
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=)
|
rs568517935
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
|
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)
|
rs747788394
|
0.00006
|
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
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_001360016.2(G6PD):c.1014A>G (p.Ala338=)
|
rs1401465965
|
0.00006
|
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
|
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=)
|
rs186843026
|
0.00006
|
|
NM_001360016.2(G6PD):c.795G>A (p.Leu265=)
|
rs374222477
|
0.00006
|
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
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_001543.5(NDST1):c.1690G>C (p.Val564Leu)
|
rs774976739
|
0.00006
|
|
NM_001715.3(BLK):c.*324G>A
|
rs886062600
|
0.00006
|
|
NM_001715.3(BLK):c.*348C>G
|
rs564964151
|
0.00006
|
|
NM_001715.3(BLK):c.1057C>T (p.Arg353Cys)
|
rs199696853
|
0.00006
|
|
NM_001715.3(BLK):c.675G>A (p.Pro225=)
|
rs761122806
|
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_001807.6(CEL):c.670-4G>A
|
rs371303105
|
0.00006
|
|
NM_001931.5(DLAT):c.1035A>G (p.Pro345=)
|
rs140302942
|
0.00006
|
|
NM_001931.5(DLAT):c.1735A>G (p.Ile579Val)
|
rs371341957
|
0.00006
|
|
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)
|
rs149440666
|
0.00006
|
|
NM_001931.5(DLAT):c.606G>A (p.Ser202=)
|
rs148153443
|
0.00006
|
|
NM_001931.5(DLAT):c.675C>T (p.Ala225=)
|
rs782220140
|
0.00006
|
|
NM_001931.5(DLAT):c.681T>C (p.Ser227=)
|
rs781985635
|
0.00006
|
|
NM_002076.4(GNS):c.156C>T (p.Leu52=)
|
rs951936514
|
0.00006
|
|
NM_002076.4(GNS):c.30G>A (p.Arg10=)
|
rs753033310
|
0.00006
|
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
|
NM_002103.4(GYS1):c.-199T>C
|
rs770497351
|
0.00006
|
|
NM_002103.5(GYS1):c.*1044T>G
|
rs886054564
|
0.00006
|
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
|
NM_002103.5(GYS1):c.1063-5C>T
|
rs776549260
|
0.00006
|
|
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
|
rs1003071543
|
0.00006
|
|
NM_002103.5(GYS1):c.1309-4G>A
|
rs112034326
|
0.00006
|
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
|
NM_002103.5(GYS1):c.162_163del (p.Asp56fs)
|
rs587777375
|
0.00006
|
|
NM_002103.5(GYS1):c.1740G>A (p.Arg580=)
|
rs773784707
|
0.00006
|
|
NM_002103.5(GYS1):c.177C>T (p.Gly59=)
|
rs779646777
|
0.00006
|
|
NM_002103.5(GYS1):c.1995C>T (p.Asn665=)
|
rs201072036
|
0.00006
|
|
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
|
rs994882983
|
0.00006
|
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
|
NM_002103.5(GYS1):c.684C>T (p.Asn228=)
|
rs202167827
|
0.00006
|
|
NM_002103.5(GYS1):c.824-14dup
|
rs769641500
|
0.00006
|
|
NM_002294.3(LAMP2):c.*2183T>C
|
rs765214315
|
0.00006
|
|
NM_002294.3(LAMP2):c.*3689T>C
|
rs975386272
|
0.00006
|
|
NM_002294.3(LAMP2):c.*721A>C
|
rs887326511
|
0.00006
|
|
NM_002294.3(LAMP2):c.1094-4C>T
|
rs768756537
|
0.00006
|
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
|
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)
|
rs377102890
|
0.00006
|
|
NM_002299.4(LCT):c.4760G>A (p.Arg1587His)
|
rs146614143
|
0.00006
|
|
NM_002299.4(LCT):c.4761C>T (p.Arg1587=)
|
rs573401319
|
0.00006
|
|
NM_002300.8(LDHB):c.585C>T (p.Gly195=)
|
rs141629567
|
0.00006
|
|
NM_002500.5(NEUROD1):c.*907T>C
|
rs747758950
|
0.00006
|
|
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)
|
rs778703927
|
0.00006
|
|
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys)
|
rs139008325
|
0.00006
|
|
NM_002591.4(PCK1):c.651G>A (p.Thr217=)
|
rs777897405
|
0.00006
|
|
NM_002637.4(PHKA1):c.*1151C>T
|
rs782605900
|
0.00006
|
|
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
|
rs113352627
|
0.00006
|
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
|
NM_002637.4(PHKA1):c.3034-15C>T
|
rs1191413387
|
0.00006
|
|
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
|
rs782453258
|
0.00006
|
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
|
NM_002863.5(PYGL):c.1620+1G>A
|
rs113993981
|
0.00006
|
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
|
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
|
rs371605092
|
0.00006
|
|
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=)
|
rs539749063
|
0.00006
|
|
NM_003051.4(SLC16A1):c.*946G>A
|
rs867810008
|
0.00006
|
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
|
NM_003384.3(VRK1):c.1005T>C (p.Asp335=)
|
rs948151259
|
0.00006
|
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
|
NM_003384.3(VRK1):c.286+20T>C
|
rs756827476
|
0.00006
|
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
|
NM_003477.3(PDHX):c.970A>G (p.Ile324Val)
|
rs768103465
|
0.00006
|
|
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile)
|
rs370236540
|
0.00006
|
|
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)
|
rs199624763
|
0.00006
|
|
NM_003597.5(KLF11):c.1450G>A (p.Gly484Ser)
|
rs750063435
|
0.00006
|
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
|
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp)
|
rs200561467
|
0.00006
|
|
NM_004130.4(GYG1):c.129C>T (p.Val43=)
|
rs771303442
|
0.00006
|
|
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro)
|
rs527407055
|
0.00006
|
|
NM_004130.4(GYG1):c.143+11C>T
|
rs367745695
|
0.00006
|
|
NM_004130.4(GYG1):c.175A>G (p.Ile59Val)
|
rs535548906
|
0.00006
|
|
NM_004130.4(GYG1):c.67G>C (p.Gly23Arg)
|
rs148083274
|
0.00006
|
|
NM_004130.4(GYG1):c.683C>T (p.Thr228Ile)
|
rs201672568
|
0.00006
|
|
NM_004130.4(GYG1):c.700G>A (p.Glu234Lys)
|
rs372805607
|
0.00006
|
|
NM_004130.4(GYG1):c.942G>A (p.Pro314=)
|
rs141745973
|
0.00006
|
|
NM_004830.4(MED23):c.367C>T (p.Arg123Trp)
|
rs374403178
|
0.00006
|
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
|
NM_005566.4(LDHA):c.*311C>T
|
rs200079157
|
0.00006
|
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
|
NM_005566.4(LDHA):c.710+9T>A
|
rs182873744
|
0.00006
|
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
|
NM_005609.4(PYGM):c.1239+18G>C
|
rs533410561
|
0.00006
|
|
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile)
|
rs151213354
|
0.00006
|
|
NM_005609.4(PYGM):c.1371G>A (p.Ala457=)
|
rs766082496
|
0.00006
|
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
|
NM_005609.4(PYGM):c.1455C>T (p.Asn485=)
|
rs149123972
|
0.00006
|
|
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val)
|
rs776881451
|
0.00006
|
|
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg)
|
rs144081869
|
0.00006
|
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
|
NM_005609.4(PYGM):c.390G>A (p.Ala130=)
|
rs771873586
|
0.00006
|
|
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
|
rs760531401
|
0.00006
|
|
NM_005609.4(PYGM):c.661-599G>T
|
rs963364351
|
0.00006
|
|
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys)
|
rs762779955
|
0.00006
|
|
NM_005908.4(MANBA):c.12C>T (p.His4=)
|
rs757557908
|
0.00006
|
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
|
NM_005908.4(MANBA):c.2014+15G>A
|
rs778364481
|
0.00006
|
|
NM_005908.4(MANBA):c.2379G>A (p.Pro793=)
|
rs372595764
|
0.00006
|
|
NM_005908.4(MANBA):c.418A>G (p.Ile140Val)
|
rs572164146
|
0.00006
|
|
NM_005908.4(MANBA):c.807A>G (p.Gln269=)
|
rs151274894
|
0.00006
|
|
NM_006488.3(KHK):c.-97G>A
|
rs886055885
|
0.00006
|
|
NM_006488.3(KHK):c.118G>A (p.Gly40Arg)
|
rs104893643
|
0.00006
|
|
NM_006488.3(KHK):c.210-199T>C
|
rs201650300
|
0.00006
|
|
NM_006488.3(KHK):c.210-334C>T
|
rs368871098
|
0.00006
|
|
NM_006488.3(KHK):c.687C>T (p.Gly229=)
|
rs142428157
|
0.00006
|
|
NM_006488.3(KHK):c.688G>A (p.Ala230Thr)
|
rs745997707
|
0.00006
|
|
NM_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1005C>G (p.Thr335=)
|
rs763664146
|
0.00006
|
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
0.00006
|
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
|
NM_006516.4(SLC2A1):c.19-12G>A
|
rs372344816
|
0.00006
|
|
NM_006516.4(SLC2A1):c.19-5C>T
|
rs376653618
|
0.00006
|
|
NM_006516.4(SLC2A1):c.343C>T (p.Leu115=)
|
rs539490455
|
0.00006
|
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
|
NM_006721.4(ADK):c.66-23966T>C
|
rs886047235
|
0.00006
|
|
NM_006755.2(TALDO1):c.*12G>A
|
rs369845141
|
0.00006
|
|
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)
|
rs140985565
|
0.00006
|
|
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)
|
rs755808199
|
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_012096.3(APPL1):c.1926A>G (p.Ile642Met)
|
rs183787750
|
0.00006
|
|
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala)
|
rs761847384
|
0.00006
|
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
|
NM_012203.2(GRHPR):c.84-4G>A
|
rs778578725
|
0.00006
|
|
NM_012434.5(SLC17A5):c.*1692G>A
|
rs540786941
|
0.00006
|
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
|
NM_012434.5(SLC17A5):c.533del (p.Thr178fs)
|
rs727504156
|
0.00006
|
|
NM_012434.5(SLC17A5):c.843G>A (p.Pro281=)
|
rs567868125
|
0.00006
|
|
NM_014026.6(DCPS):c.260C>T (p.Thr87Met)
|
rs138737928
|
0.00006
|
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
|
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu)
|
rs894040978
|
0.00006
|
|
NM_015957.4(APIP):c.-30T>C
|
rs567329509
|
0.00006
|
|
NM_016203.4(PRKAG2):c.1051+20T>C
|
rs748641955
|
0.00006
|
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
|
NM_016203.4(PRKAG2):c.864+20A>G
|
rs370643442
|
0.00006
|
|
NM_016219.5(MAN1B1):c.*113G>A
|
rs762819985
|
0.00006
|
|
NM_016219.5(MAN1B1):c.*86C>T
|
rs771691552
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=)
|
rs754708614
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=)
|
rs201942029
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1445+10G>A
|
rs200441545
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)
|
rs375378489
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
|
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile)
|
rs143449562
|
0.00006
|
|
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)
|
rs573043401
|
0.00006
|
|
NM_017755.6(NSUN2):c.2026G>A (p.Val676Ile)
|
rs773052587
|
0.00006
|
|
NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys)
|
rs142436858
|
0.00006
|
|
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)
|
rs144262689
|
0.00006
|
|
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)
|
rs372947608
|
0.00006
|
|
NM_021957.4(GYS2):c.116A>G (p.Asn39Ser)
|
rs121918423
|
0.00006
|
|
NM_021957.4(GYS2):c.1645+7G>T
|
rs199505368
|
0.00006
|
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
|
NM_021957.4(GYS2):c.1889C>T (p.Thr630Met)
|
rs140646346
|
0.00006
|
|
NM_022895.3(C12orf43):c.*2570C>G
|
rs868177605
|
0.00006
|
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
|
NM_031229.4(RBCK1):c.1164G>A (p.Glu388=)
|
rs750877383
|
0.00006
|
|
NM_031229.4(RBCK1):c.1293G>A (p.Thr431=)
|
rs766366513
|
0.00006
|
|
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val)
|
rs372983302
|
0.00006
|
|
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg)
|
rs969675403
|
0.00006
|
|
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp)
|
rs774464341
|
0.00006
|
|
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly)
|
rs763445513
|
0.00006
|
|
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val)
|
rs1331848000
|
0.00006
|
|
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val)
|
rs1199811720
|
0.00006
|
|
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)
|
rs781592121
|
0.00006
|
|
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
|
rs374011925
|
0.00006
|
|
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
|
rs782200654
|
0.00006
|
|
NM_033159.4(HYAL1):c.906G>A (p.Glu302=)
|
rs372594999
|
0.00006
|
|
NM_053013.4(ENO3):c.1208G>A (p.Arg403His)
|
rs561474067
|
0.00006
|
|
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys)
|
rs139073445
|
0.00006
|
|
NM_053013.4(ENO3):c.926_929dup (p.Val311fs)
|
rs751624358
|
0.00006
|
|
NM_080749.4(NEURL2):c.-64C>T
|
rs566739434
|
0.00006
|
|
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys)
|
rs201450556
|
0.00006
|
|
NM_138413.4(HOGA1):c.802C>T (p.Leu268=)
|
rs201910899
|
0.00006
|
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
|
NM_138413.4(HOGA1):c.834G>A (p.Ala278=)
|
rs770050262
|
0.00006
|
|
NM_144563.3(RPIA):c.*15G>A
|
rs375899017
|
0.00006
|
|
NM_144563.3(RPIA):c.706G>A (p.Val236Met)
|
rs752477415
|
0.00006
|
|
NM_152419.3(HGSNAT):c.*1064A>G
|
rs886062958
|
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.1687G>A (p.Val563Met)
|
rs761054871
|
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_175914.5(HNF4A):c.*1821C>T
|
rs886056686
|
0.00006
|
|
NM_175914.5(HNF4A):c.225-8C>T
|
rs759922116
|
0.00006
|
|
NM_175914.5(HNF4A):c.321C>T (p.Ala107=)
|
rs138290205
|
0.00006
|
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
|
NM_175914.5(HNF4A):c.427-16C>T
|
rs535994220
|
0.00006
|
|
NM_175914.5(HNF4A):c.624C>T (p.Leu208=)
|
rs759084238
|
0.00006
|
|
NM_175914.5(HNF4A):c.840G>A (p.Leu280=)
|
rs181559088
|
0.00006
|
|
NM_198586.3(NHLRC1):c.468del (p.Gly158fs)
|
rs757954108
|
0.00006
|
|
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)
|
rs367906378
|
0.00006
|
|
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)
|
rs140164729
|
0.00006
|
|
NM_000027.4(AGA):c.282-6T>C
|
rs749661341
|
0.00005
|
|
NM_000027.4(AGA):c.623-6T>C
|
rs753309242
|
0.00005
|
|
NM_000027.4(AGA):c.75C>T (p.Ser25=)
|
rs146683705
|
0.00005
|
|
NM_000030.3(AGXT):c.1170G>A (p.Lys390=)
|
rs899277137
|
0.00005
|
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
|
NM_000046.5(ARSB):c.1336+7del
|
rs748129076
|
0.00005
|
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
|
NM_000046.5(ARSB):c.54G>A (p.Leu18=)
|
rs142781021
|
0.00005
|
|
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
|
rs202130413
|
0.00005
|
|
NM_000046.5(ARSB):c.937C>G (p.Pro313Ala)
|
rs749989641
|
0.00005
|
|
NM_000108.5(DLD):c.807G>T (p.Gly269=)
|
rs912822748
|
0.00005
|
|
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu)
|
rs149168482
|
0.00005
|
|
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser)
|
rs569701574
|
0.00005
|
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
|
NM_000151.4(G6PC1):c.*103C>T
|
rs1032152255
|
0.00005
|
|
NM_000151.4(G6PC1):c.*1313A>G
|
rs886052962
|
0.00005
|
|
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)
|
rs104894565
|
0.00005
|
|
NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter)
|
rs764920787
|
0.00005
|
|
NM_000151.4(G6PC1):c.786C>T (p.Leu262=)
|
rs138509513
|
0.00005
|
|
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
|
rs750711451
|
0.00005
|
|
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
|
rs780226142
|
0.00005
|
|
NM_000152.5(GAA):c.1075+20C>T
|
rs370379513
|
0.00005
|
|
NM_000152.5(GAA):c.1075+9T>C
|
rs751918816
|
0.00005
|
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
|
NM_000152.5(GAA):c.1425G>A (p.Pro475=)
|
rs753140491
|
0.00005
|
|
NM_000152.5(GAA):c.1437+19G>A
|
rs746904197
|
0.00005
|
|
NM_000152.5(GAA):c.1488G>A (p.Leu496=)
|
rs750777002
|
0.00005
|
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
|
NM_000152.5(GAA):c.1932C>T (p.Ala644=)
|
rs746194098
|
0.00005
|
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
|
NM_000152.5(GAA):c.249C>T (p.Asp83=)
|
rs377351519
|
0.00005
|
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
|
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
|
rs774018778
|
0.00005
|
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
|
NM_000152.5(GAA):c.546+17C>T
|
rs529918753
|
0.00005
|
|
NM_000152.5(GAA):c.693-13C>G
|
rs760379754
|
0.00005
|
|
NM_000152.5(GAA):c.858+18G>A
|
rs747775111
|
0.00005
|
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
|
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
|
rs776426036
|
0.00005
|
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
|
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp)
|
rs370987432
|
0.00005
|
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
|
NM_000155.4(GALT):c.253-19A>G
|
rs764103663
|
0.00005
|
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00005
|
|
NM_000158.4(GBE1):c.108G>A (p.Pro36=)
|
rs775188750
|
0.00005
|
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
|
NM_000158.4(GBE1):c.1414A>G (p.Lys472Glu)
|
rs749416254
|
0.00005
|
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
|
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
|
rs758743865
|
0.00005
|
|
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
|
rs371271170
|
0.00005
|
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
|
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
|
rs11559281
|
0.00005
|
|
NM_000199.5(SGSH):c.1359C>T (p.Thr453=)
|
rs751980056
|
0.00005
|
|
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)
|
rs368650877
|
0.00005
|
|
NM_000199.5(SGSH):c.264G>A (p.Met88Ile)
|
rs1178488696
|
0.00005
|
|
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)
|
rs753472891
|
0.00005
|
|
NM_000202.8(IDS):c.103+6G>A
|
rs781956472
|
0.00005
|
|
NM_000202.8(IDS):c.1158C>T (p.Ser386=)
|
rs372340411
|
0.00005
|
|
NM_000202.8(IDS):c.1248G>A (p.Leu416=)
|
rs1306764023
|
0.00005
|
|
NM_000202.8(IDS):c.23G>T (p.Arg8Leu)
|
rs782621858
|
0.00005
|
|
NM_000202.8(IDS):c.717G>A (p.Gln239=)
|
rs782087755
|
0.00005
|
|
NM_000202.8(IDS):c.851C>T (p.Pro284Leu)
|
rs782286857
|
0.00005
|
|
NM_000202.8(IDS):c.868G>A (p.Val290Met)
|
rs782479238
|
0.00005
|
|
NM_000202.8(IDS):c.894G>A (p.Gln298=)
|
rs781812519
|
0.00005
|
|
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
|
rs773947412
|
0.00005
|
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
|
NM_000203.5(IDUA):c.411G>A (p.Ser137=)
|
rs142816379
|
0.00005
|
|
NM_000203.5(IDUA):c.589+8_590-51dup
|
rs1560546691
|
0.00005
|
|
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
|
rs775641597
|
0.00005
|
|
NM_000203.5(IDUA):c.903C>T (p.Asp301=)
|
rs759390416
|
0.00005
|
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
0.00005
|
|
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
|
rs758270880
|
0.00005
|
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
|
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
|
rs143580194
|
0.00005
|
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
|
NM_000284.4(PDHA1):c.1009-9A>C
|
rs372177460
|
0.00005
|
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
|
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)
|
rs138237215
|
0.00005
|
|
NM_000284.4(PDHA1):c.759+10C>G
|
rs375488072
|
0.00005
|
|
NM_000289.6(PFKM):c.1127+13C>T
|
rs376042142
|
0.00005
|
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
|
NM_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
|
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)
|
rs745739278
|
0.00005
|
|
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
|
rs370779782
|
0.00005
|
|
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
|
rs751902983
|
0.00005
|
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
|
NM_000290.4(PGAM2):c.20del (p.Val7fs)
|
rs764567774
|
0.00005
|
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
|
NM_000291.4(PGK1):c.248T>C (p.Val83Ala)
|
rs138851144
|
0.00005
|
|
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)
|
rs368594655
|
0.00005
|
|
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=)
|
rs770108234
|
0.00005
|
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
|
NM_000293.3(PHKB):c.*1709G>A
|
rs1007478681
|
0.00005
|
|
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu)
|
rs775984009
|
0.00005
|
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
|
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
|
rs201038140
|
0.00005
|
|
NM_000293.3(PHKB):c.306-15A>G
|
rs372436374
|
0.00005
|
|
NM_000294.3(PHKG2):c.516C>T (p.Phe172=)
|
rs758301470
|
0.00005
|
|
NM_000294.3(PHKG2):c.556+5G>T
|
rs369684098
|
0.00005
|
|
NM_000294.3(PHKG2):c.801+18G>A
|
rs754293230
|
0.00005
|
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
|
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)
|
rs137854544
|
0.00005
|
|
NM_000340.2(SLC2A2):c.*726T>C
|
rs886058172
|
0.00005
|
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
|
NM_000343.4(SLC5A1):c.1130-7C>A
|
rs779556793
|
0.00005
|
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
|
NM_000352.6(ABCC8):c.1704G>A (p.Glu568=)
|
rs745652559
|
0.00005
|
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
|
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)
|
rs746146690
|
0.00005
|
|
NM_000352.6(ABCC8):c.4546-4G>A
|
rs770984647
|
0.00005
|
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
|
NM_000404.4(GLB1):c.1069-4A>G
|
rs781267265
|
0.00005
|
|
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
|
rs748345527
|
0.00005
|
|
NM_000404.4(GLB1):c.1815G>A (p.Gln605=)
|
rs776773620
|
0.00005
|
|
NM_000404.4(GLB1):c.1830C>G (p.Thr610=)
|
rs189054965
|
0.00005
|
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
|
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)
|
rs201903758
|
0.00005
|
|
NM_000458.4(HNF1B):c.1239C>T (p.Val413=)
|
rs201113814
|
0.00005
|
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
|
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)
|
rs768180795
|
0.00005
|
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
|
NM_000512.5(GALNS):c.833C>T (p.Ala278Val)
|
rs141544939
|
0.00005
|
|
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)
|
rs933392379
|
0.00005
|
|
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=)
|
rs200855007
|
0.00005
|
|
NM_000528.4(MAN2B1):c.160-12G>A
|
rs775808824
|
0.00005
|
|
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile)
|
rs181476648
|
0.00005
|
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
|
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)
|
rs779966472
|
0.00005
|
|
NM_000545.8(HNF1A):c.1624-29G>A
|
rs532689884
|
0.00005
|
|
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser)
|
rs753972576
|
0.00005
|
|
NM_000642.3(AGL):c.*395C>T
|
rs886044925
|
0.00005
|
|
NM_000642.3(AGL):c.-104C>T
|
rs982037804
|
0.00005
|
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
|
NM_000642.3(AGL):c.1971A>G (p.Thr657=)
|
rs767863471
|
0.00005
|
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
|
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
|
rs752502818
|
0.00005
|
|
NM_000642.3(AGL):c.2949+15A>G
|
rs756269310
|
0.00005
|
|
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp)
|
rs146154694
|
0.00005
|
|
NM_000891.3(KCNJ2):c.*709A>G
|
rs950748341
|
0.00005
|
|
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)
|
rs753757610
|
0.00005
|
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
|
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=)
|
rs67120636
|
0.00005
|
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
|
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)
|
rs139242990
|
0.00005
|
|
NM_001008216.2(GALE):c.352-15T>C
|
rs913690101
|
0.00005
|
|
NM_001008216.2(GALE):c.372G>A (p.Val124=)
|
rs550325454
|
0.00005
|
|
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)
|
rs140878602
|
0.00005
|
|
NM_001008216.2(GALE):c.988+18C>T
|
rs374716589
|
0.00005
|
|
NM_001014436.3(DBNL):c.*2017A>G
|
rs367994618
|
0.00005
|
|
NM_001040716.2(PC):c.1023-4A>G
|
rs1294415190
|
0.00005
|
|
NM_001040716.2(PC):c.1149C>T (p.Pro383=)
|
rs942544161
|
0.00005
|
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
|
NM_001040716.2(PC):c.1317C>T (p.Ala439=)
|
rs772463388
|
0.00005
|
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
|
NM_001040716.2(PC):c.1701C>T (p.Asp567=)
|
rs376240725
|
0.00005
|
|
NM_001040716.2(PC):c.2469C>T (p.Asp823=)
|
rs145654496
|
0.00005
|
|
NM_001040716.2(PC):c.2886C>T (p.Pro962=)
|
rs780732004
|
0.00005
|
|
NM_001040716.2(PC):c.3072T>C (p.Thr1024=)
|
rs147432626
|
0.00005
|
|
NM_001040716.2(PC):c.3171G>A (p.Thr1057=)
|
rs147550265
|
0.00005
|
|
NM_001040716.2(PC):c.3192C>T (p.Ala1064=)
|
rs751541124
|
0.00005
|
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
|
NM_001041.4(SI):c.1420T>C (p.Tyr474His)
|
rs771986263
|
0.00005
|
|
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)
|
rs371618948
|
0.00005
|
|
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)
|
rs138778317
|
0.00005
|
|
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)
|
rs144419320
|
0.00005
|
|
NM_001041.4(SI):c.4000-15T>A
|
rs201336234
|
0.00005
|
|
NM_001041.4(SI):c.4500C>T (p.Asp1500=)
|
rs553547580
|
0.00005
|
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
|
NM_001041.4(SI):c.627T>C (p.Gly209=)
|
rs370540330
|
0.00005
|
|
NM_001041.4(SI):c.807+8A>G
|
rs759240554
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.-64C>T
|
rs150026242
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)
|
rs782777751
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=)
|
rs758536145
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=)
|
rs996440530
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.985+290T>C
|
rs781943252
|
0.00005
|
|
NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=)
|
rs532473202
|
0.00005
|
|
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
|
rs146976414
|
0.00005
|
|
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)
|
rs150741747
|
0.00005
|
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
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_001360016.2(G6PD):c.1065C>T (p.Ile355=)
|
rs1557229753
|
0.00005
|
|
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=)
|
rs781798712
|
0.00005
|
|
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)
|
rs782422580
|
0.00005
|
|
NM_001360016.2(G6PD):c.207C>T (p.Gly69=)
|
rs782770344
|
0.00005
|
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
|
NM_001360016.2(G6PD):c.690C>T (p.Ile230=)
|
rs781917123
|
0.00005
|
|
NM_001360016.2(G6PD):c.696C>T (p.Cys232=)
|
rs782061495
|
0.00005
|
|
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
|
rs781948754
|
0.00005
|
|
NM_001360016.2(G6PD):c.865-16C>T
|
rs199970830
|
0.00005
|
|
NM_001360016.2(G6PD):c.972C>T (p.Asp324=)
|
rs782534709
|
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_001543.5(NDST1):c.389G>A (p.Arg130His)
|
rs148227466
|
0.00005
|
|
NM_001715.3(BLK):c.*376C>T
|
rs886062601
|
0.00005
|
|
NM_001715.3(BLK):c.369-2A>G
|
rs137986278
|
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_001931.5(DLAT):c.165C>G (p.Val55=)
|
rs199520186
|
0.00005
|
|
NM_002076.4(GNS):c.*2278A>C
|
rs1036841344
|
0.00005
|
|
NM_002076.4(GNS):c.*2844G>A
|
rs534118009
|
0.00005
|
|
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
|
rs202228620
|
0.00005
|
|
NM_002076.4(GNS):c.525+14G>A
|
rs774916170
|
0.00005
|
|
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
|
rs575544204
|
0.00005
|
|
NM_002103.5(GYS1):c.*395C>T
|
rs112850979
|
0.00005
|
|
NM_002103.5(GYS1):c.1335C>T (p.Thr445=)
|
rs753790981
|
0.00005
|
|
NM_002103.5(GYS1):c.1401T>C (p.Asn467=)
|
rs574896397
|
0.00005
|
|
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
|
rs748471233
|
0.00005
|
|
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys)
|
rs962330001
|
0.00005
|
|
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp)
|
rs768327651
|
0.00005
|
|
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
|
rs137913986
|
0.00005
|
|
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
|
rs574739791
|
0.00005
|
|
NM_002103.5(GYS1):c.759C>T (p.His253=)
|
rs149182914
|
0.00005
|
|
NM_002103.5(GYS1):c.813G>A (p.Lys271=)
|
rs942457914
|
0.00005
|
|
NM_002294.3(LAMP2):c.*1672C>T
|
rs1024440041
|
0.00005
|
|
NM_002294.3(LAMP2):c.*2538A>C
|
rs1057515739
|
0.00005
|
|
NM_002294.3(LAMP2):c.158G>A (p.Arg53His)
|
rs397516735
|
0.00005
|
|
NM_002294.3(LAMP2):c.264A>T (p.Ile88=)
|
rs779524035
|
0.00005
|
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
|
NM_002294.3(LAMP2):c.771T>C (p.Asn257=)
|
rs138435481
|
0.00005
|
|
NM_002299.4(LCT):c.4173+5G>A
|
rs575414951
|
0.00005
|
|
NM_002591.4(PCK1):c.747G>A (p.Arg249=)
|
rs377356631
|
0.00005
|
|
NM_002637.4(PHKA1):c.*467T>C
|
rs970811941
|
0.00005
|
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
|
NM_002863.5(PYGL):c.1093-11C>G
|
rs768745213
|
0.00005
|
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
|
NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter)
|
rs150547274
|
0.00005
|
|
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)
|
rs113993973
|
0.00005
|
|
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)
|
rs768523615
|
0.00005
|
|
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)
|
rs764563027
|
0.00005
|
|
NM_003051.4(SLC16A1):c.*657C>A
|
rs911644501
|
0.00005
|
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
|
NM_003477.3(PDHX):c.242-4G>A
|
rs199583315
|
0.00005
|
|
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
|
rs768560478
|
0.00005
|
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
|
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)
|
rs752588055
|
0.00005
|
|
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln)
|
rs754704006
|
0.00005
|
|
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys)
|
rs753768799
|
0.00005
|
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
|
NM_004130.4(GYG1):c.551C>T (p.Pro184Leu)
|
rs746196371
|
0.00005
|
|
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter)
|
rs753706965
|
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_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
|
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg)
|
rs754940511
|
0.00005
|
|
NM_005609.4(PYGM):c.1546C>T (p.Leu516=)
|
rs767703629
|
0.00005
|
|
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg)
|
rs201591132
|
0.00005
|
|
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
|
rs149658961
|
0.00005
|
|
NM_005609.4(PYGM):c.2178-1G>A
|
rs143670942
|
0.00005
|
|
NM_005609.4(PYGM):c.855+4C>T
|
rs199834605
|
0.00005
|
|
NM_005883.3(APC2):c.1063G>A (p.Val355Ile)
|
rs751785909
|
0.00005
|
|
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
|
rs749814120
|
0.00005
|
|
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val)
|
rs773650770
|
0.00005
|
|
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)
|
rs367692761
|
0.00005
|
|
NM_006488.3(KHK):c.19C>T (p.Leu7=)
|
rs750201072
|
0.00005
|
|
NM_006516.2(SLC2A1):c.-483G>T
|
rs886046346
|
0.00005
|
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
|
NM_006516.4(SLC2A1):c.276-9C>T
|
rs529579952
|
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_012203.2(GRHPR):c.342C>T (p.Leu114=)
|
rs374108537
|
0.00005
|
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
|
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu)
|
rs374659214
|
0.00005
|
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
|
NM_012434.5(SLC17A5):c.789G>A (p.Lys263=)
|
rs41265523
|
0.00005
|
|
NM_012434.5(SLC17A5):c.819+19T>C
|
rs201859687
|
0.00005
|
|
NM_013995.2(LAMP2):c.-154T>C
|
rs999307628
|
0.00005
|
|
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln)
|
rs746338510
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=)
|
rs374476363
|
0.00005
|
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
|
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)
|
rs781038088
|
0.00005
|
|
NM_016219.5(MAN1B1):c.*185T>G
|
rs137960366
|
0.00005
|
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
|
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)
|
rs199561708
|
0.00005
|
|
NM_017755.6(NSUN2):c.*48C>T
|
rs374381984
|
0.00005
|
|
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)
|
rs756450204
|
0.00005
|
|
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala)
|
rs373798103
|
0.00005
|
|
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)
|
rs374758737
|
0.00005
|
|
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val)
|
rs768693892
|
0.00005
|
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
|
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile)
|
rs535526499
|
0.00005
|
|
NM_021957.4(GYS2):c.1810-3T>C
|
rs375829709
|
0.00005
|
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
|
NM_021957.4(GYS2):c.750T>C (p.His250=)
|
rs200713752
|
0.00005
|
|
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)
|
rs558586992
|
0.00005
|
|
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr)
|
rs556354713
|
0.00005
|
|
NM_024312.5(GNPTAB):c.3335+6T>G
|
rs34788341
|
0.00005
|
|
NM_024989.4(PGAP1):c.148-8A>T
|
rs765710378
|
0.00005
|
|
NM_031229.4(RBCK1):c.1308+19C>T
|
rs554956050
|
0.00005
|
|
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
|
rs746197240
|
0.00005
|
|
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr)
|
rs751621844
|
0.00005
|
|
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu)
|
rs201645896
|
0.00005
|
|
NM_031466.8(TRAPPC9):c.-73G>C
|
rs767996463
|
0.00005
|
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
|
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)
|
rs1346505806
|
0.00005
|
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
|
NM_053013.4(ENO3):c.832G>A (p.Glu278Lys)
|
rs370822982
|
0.00005
|
|
NM_138413.4(HOGA1):c.*352T>C
|
rs545072905
|
0.00005
|
|
NM_138413.4(HOGA1):c.701-7C>T
|
rs372897096
|
0.00005
|
|
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
|
rs201145417
|
0.00005
|
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
|
NM_144563.3(RPIA):c.*29T>G
|
rs183747347
|
0.00005
|
|
NM_152419.3(HGSNAT):c.*1034G>A
|
rs886062957
|
0.00005
|
|
NM_152419.3(HGSNAT):c.*1436A>G
|
rs373032953
|
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_175914.5(HNF4A):c.*2182G>A
|
rs138556808
|
0.00005
|
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
|
NM_175914.5(HNF4A):c.50-4496C>T
|
rs189943469
|
0.00005
|
|
NM_175914.5(HNF4A):c.670+7C>T
|
rs376544046
|
0.00005
|
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
|
NM_198586.3(NHLRC1):c.1092G>A (p.Ser364=)
|
rs760322295
|
0.00005
|
|
NM_198586.3(NHLRC1):c.642A>G (p.Gln214=)
|
rs754756237
|
0.00005
|
|
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
|
NM_198586.3(NHLRC1):c.723C>A (p.Leu241=)
|
rs748203595
|
0.00005
|
|
NM_000027.4(AGA):c.127+16C>T
|
rs745840548
|
0.00004
|
|
NM_000027.4(AGA):c.128-18T>C
|
rs367922948
|
0.00004
|
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
|
NM_000027.4(AGA):c.281+12G>A
|
rs754261269
|
0.00004
|
|
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)
|
rs373865451
|
0.00004
|
|
NM_000027.4(AGA):c.645A>G (p.Thr215=)
|
rs201441868
|
0.00004
|
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
|
NM_000030.3(AGXT):c.484G>A (p.Val162Met)
|
rs147497484
|
0.00004
|
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
|
NM_000030.3(AGXT):c.795C>T (p.Pro265=)
|
rs760015739
|
0.00004
|
|
NM_000030.3(AGXT):c.930C>T (p.Phe310=)
|
rs886055842
|
0.00004
|
|
NM_000035.4(ALDOB):c.207C>T (p.Ser69=)
|
rs779129856
|
0.00004
|
|
NM_000035.4(ALDOB):c.379+1G>T
|
rs138121153
|
0.00004
|
|
NM_000035.4(ALDOB):c.401G>A (p.Arg134His)
|
rs145252200
|
0.00004
|
|
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
|
rs778013891
|
0.00004
|
|
NM_000046.5(ARSB):c.*384T>A
|
rs970465323
|
0.00004
|
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
|
NM_000046.5(ARSB):c.1142+18T>G
|
rs758055045
|
0.00004
|
|
NM_000046.5(ARSB):c.1142+9A>C
|
rs756793742
|
0.00004
|
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
|
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
|
rs556943300
|
0.00004
|
|
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
|
rs138643812
|
0.00004
|
|
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
|
rs756411069
|
0.00004
|
|
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
|
rs747605575
|
0.00004
|
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
|
NM_000046.5(ARSB):c.690+14C>T
|
rs757236770
|
0.00004
|
|
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys)
|
rs745804096
|
0.00004
|
|
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
|
rs755579897
|
0.00004
|
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
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_000147.5(FUCA1):c.1160+9T>C
|
rs778966131
|
0.00004
|
|
NM_000147.5(FUCA1):c.1335C>G (p.Pro445=)
|
rs372223382
|
0.00004
|
|
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr)
|
rs377360830
|
0.00004
|
|
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu)
|
rs1204848910
|
0.00004
|
|
NM_000147.5(FUCA1):c.39C>T (p.Pro13=)
|
rs1429674319
|
0.00004
|
|
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)
|
rs768069468
|
0.00004
|
|
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)
|
rs781345107
|
0.00004
|
|
NM_000151.4(G6PC1):c.*1513C>T
|
rs374021788
|
0.00004
|
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
|
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
|
rs766771010
|
0.00004
|
|
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)
|
rs549712764
|
0.00004
|
|
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
|
rs145296477
|
0.00004
|
|
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
|
rs377077333
|
0.00004
|
|
NM_000152.5(GAA):c.*264G>A
|
rs1219851042
|
0.00004
|
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
|
NM_000152.5(GAA):c.1416C>T (p.Thr472=)
|
rs368492669
|
0.00004
|
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
|
NM_000152.5(GAA):c.1491C>T (p.Ala497=)
|
rs373993015
|
0.00004
|
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
|
NM_000152.5(GAA):c.1629C>T (p.Tyr543=)
|
rs372193105
|
0.00004
|
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
|
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
|
rs765362308
|
0.00004
|
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
|
NM_000152.5(GAA):c.1888+8C>T
|
rs772887194
|
0.00004
|
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
|
NM_000152.5(GAA):c.246C>T (p.Cys82=)
|
rs749584846
|
0.00004
|
|
NM_000152.5(GAA):c.2647-6G>T
|
rs201525743
|
0.00004
|
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
|
NM_000152.5(GAA):c.618C>T (p.Ser206=)
|
rs146292898
|
0.00004
|
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
|
NM_000152.5(GAA):c.858+17C>T
|
rs371980868
|
0.00004
|
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
|
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met)
|
rs371517491
|
0.00004
|
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
|
NM_000154.2(GALK1):c.1077C>T (p.Ser359=)
|
rs376050836
|
0.00004
|
|
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
|
rs146095595
|
0.00004
|
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
|
NM_000155.4(GALT):c.1059+8C>T
|
rs373165440
|
0.00004
|
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
|
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
|
rs759270191
|
0.00004
|
|
NM_000155.4(GALT):c.459A>G (p.Ala153=)
|
rs141498518
|
0.00004
|
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
|
NM_000155.4(GALT):c.82+8C>T
|
rs368244179
|
0.00004
|
|
NM_000155.4(GALT):c.999G>C (p.Arg333=)
|
rs1054951172
|
0.00004
|
|
NM_000158.4(GBE1):c.*598G>C
|
rs886058898
|
0.00004
|
|
NM_000158.4(GBE1):c.1011C>T (p.Phe337=)
|
rs916259056
|
0.00004
|
|
NM_000158.4(GBE1):c.1168T>A (p.Leu390Met)
|
rs199821084
|
0.00004
|
|
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
|
rs763217252
|
0.00004
|
|
NM_000158.4(GBE1):c.1270A>G (p.Ile424Val)
|
rs773950053
|
0.00004
|
|
NM_000158.4(GBE1):c.1672G>A (p.Glu558Lys)
|
rs765212625
|
0.00004
|
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
|
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
|
rs577633008
|
0.00004
|
|
NM_000158.4(GBE1):c.231C>T (p.Gly77=)
|
rs375359843
|
0.00004
|
|
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
|
NM_000158.4(GBE1):c.626A>G (p.His209Arg)
|
rs542346749
|
0.00004
|
|
NM_000158.4(GBE1):c.669A>G (p.Val223=)
|
rs1014444694
|
0.00004
|
|
NM_000158.4(GBE1):c.70del (p.Asp24fs)
|
rs1407149518
|
0.00004
|
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
|
NM_000158.4(GBE1):c.993-20A>G
|
rs534036934
|
0.00004
|
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
|
NM_000162.5(GCK):c.1068G>T (p.Gly356=)
|
rs369103069
|
0.00004
|
|
NM_000162.5(GCK):c.203G>A (p.Gly68Asp)
|
rs373418736
|
0.00004
|
|
NM_000162.5(GCK):c.363+6C>A
|
rs751756042
|
0.00004
|
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
|
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)
|
rs758132799
|
0.00004
|
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
|
NM_000175.5(GPI):c.286C>T (p.Arg96Ter)
|
rs781245249
|
0.00004
|
|
NM_000181.4(GUSB):c.1121G>A (p.Arg374His)
|
rs780716481
|
0.00004
|
|
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
|
rs377615121
|
0.00004
|
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
|
NM_000181.4(GUSB):c.1485T>C (p.Tyr495=)
|
rs1333588701
|
0.00004
|
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
|
NM_000181.4(GUSB):c.1789+9C>T
|
rs545446158
|
0.00004
|
|
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val)
|
rs121918172
|
0.00004
|
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
|
NM_000181.4(GUSB):c.510C>T (p.Ile170=)
|
rs752674900
|
0.00004
|
|
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu)
|
rs200941434
|
0.00004
|
|
NM_000199.5(SGSH):c.1042C>T (p.Leu348Phe)
|
rs146494740
|
0.00004
|
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
|
NM_000199.5(SGSH):c.1135G>A (p.Val379Met)
|
rs541847913
|
0.00004
|
|
NM_000199.5(SGSH):c.1241G>A (p.Arg414His)
|
rs200320139
|
0.00004
|
|
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)
|
rs760618916
|
0.00004
|
|
NM_000199.5(SGSH):c.1263G>A (p.Thr421=)
|
rs140931352
|
0.00004
|
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
|
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
|
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)
|
rs375058146
|
0.00004
|
|
NM_000199.5(SGSH):c.356-7C>T
|
rs372328165
|
0.00004
|
|
NM_000199.5(SGSH):c.375C>T (p.His125=)
|
rs774482734
|
0.00004
|
|
NM_000199.5(SGSH):c.663+7C>T
|
rs372662337
|
0.00004
|
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
|
NM_000199.5(SGSH):c.89C>T (p.Ala30Val)
|
rs767227727
|
0.00004
|
|
NM_000199.5(SGSH):c.909A>G (p.Lys303=)
|
rs746617014
|
0.00004
|
|
NM_000199.5(SGSH):c.950-13G>A
|
rs568262258
|
0.00004
|
|
NM_000199.5(SGSH):c.950-16G>T
|
rs182544870
|
0.00004
|
|
NM_000202.8(IDS):c.104-9C>G
|
rs371864469
|
0.00004
|
|
NM_000202.8(IDS):c.1290G>A (p.Glu430=)
|
rs140633427
|
0.00004
|
|
NM_000202.8(IDS):c.162T>C (p.Tyr54=)
|
rs141088021
|
0.00004
|
|
NM_000202.8(IDS):c.246A>G (p.Ala82=)
|
rs1447255384
|
0.00004
|
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
|
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
|
rs1406337035
|
0.00004
|
|
NM_000202.8(IDS):c.450G>A (p.Pro150=)
|
rs201892132
|
0.00004
|
|
NM_000202.8(IDS):c.501C>T (p.Asn167=)
|
rs375547801
|
0.00004
|
|
NM_000202.8(IDS):c.576C>T (p.Pro192=)
|
rs1286461259
|
0.00004
|
|
NM_000202.8(IDS):c.760G>A (p.Glu254Lys)
|
rs374066256
|
0.00004
|
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
|
NM_000203.5(IDUA):c.1053C>T (p.Ala351=)
|
rs762621113
|
0.00004
|
|
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
|
rs1214087298
|
0.00004
|
|
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
|
rs571482042
|
0.00004
|
|
NM_000203.5(IDUA):c.1190-10C>T
|
rs1443642527
|
0.00004
|
|
NM_000203.5(IDUA):c.1278C>T (p.Arg426=)
|
rs890691785
|
0.00004
|
|
NM_000203.5(IDUA):c.1403-1G>T
|
rs4690223
|
0.00004
|
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
|
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
|
rs760288223
|
0.00004
|
|
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
|
rs1257968688
|
0.00004
|
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
|
NM_000203.5(IDUA):c.1911G>A (p.Pro637=)
|
rs780005721
|
0.00004
|
|
NM_000203.5(IDUA):c.248G>A (p.Arg83His)
|
rs141461803
|
0.00004
|
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
|
NM_000203.5(IDUA):c.385+19C>T
|
rs746426487
|
0.00004
|
|
NM_000203.5(IDUA):c.536C>T (p.Thr179Met)
|
rs776098539
|
0.00004
|
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
|
NM_000203.5(IDUA):c.589+8C>T
|
rs371219112
|
0.00004
|
|
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
|
rs1001972534
|
0.00004
|
|
NM_000203.5(IDUA):c.711C>T (p.Leu237=)
|
rs528650871
|
0.00004
|
|
NM_000203.5(IDUA):c.793-1G>A
|
rs762779421
|
0.00004
|
|
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe)
|
rs766950553
|
0.00004
|
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
|
NM_000262.3(NAGA):c.*1724C>G
|
rs892278914
|
0.00004
|
|
NM_000262.3(NAGA):c.-43C>T
|
rs753592199
|
0.00004
|
|
NM_000262.3(NAGA):c.324+1G>A
|
rs140673721
|
0.00004
|
|
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
|
rs182798205
|
0.00004
|
|
NM_000262.3(NAGA):c.483C>A (p.Thr161=)
|
rs753065255
|
0.00004
|
|
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
|
rs372458856
|
0.00004
|
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
|
NM_000262.3(NAGA):c.598-9G>A
|
rs772435890
|
0.00004
|
|
NM_000262.3(NAGA):c.986G>A (p.Arg329Gln)
|
rs121434533
|
0.00004
|
|
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)
|
rs756871462
|
0.00004
|
|
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
|
rs1246249632
|
0.00004
|
|
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
|
rs753745933
|
0.00004
|
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
|
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)
|
rs992677795
|
0.00004
|
|
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln)
|
rs104894598
|
0.00004
|
|
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
|
rs763394060
|
0.00004
|
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00004
|
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
|
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
|
rs920631661
|
0.00004
|
|
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
|
rs929286583
|
0.00004
|
|
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg)
|
rs1329159364
|
0.00004
|
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
|
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
|
rs756351696
|
0.00004
|
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
|
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp)
|
rs149859697
|
0.00004
|
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
|
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
|
rs755855749
|
0.00004
|
|
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
|
rs759331650
|
0.00004
|
|
NM_000284.4(PDHA1):c.291+12G>A
|
rs755244308
|
0.00004
|
|
NM_000284.4(PDHA1):c.657T>C (p.Ile219=)
|
rs778744930
|
0.00004
|
|
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
|
rs749882480
|
0.00004
|
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
|
NM_000289.6(PFKM):c.1063-19C>T
|
rs772630501
|
0.00004
|
|
NM_000289.6(PFKM):c.1320C>T (p.Phe440=)
|
rs540444775
|
0.00004
|
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
|
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
|
rs771733776
|
0.00004
|
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
|
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
|
rs368258088
|
0.00004
|
|
NM_000291.4(PGK1):c.116+8C>T
|
rs369581587
|
0.00004
|
|
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
|
rs1389980232
|
0.00004
|
|
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)
|
rs137958637
|
0.00004
|
|
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)
|
rs199904295
|
0.00004
|
|
NM_000292.3(PHKA2):c.2677-17G>A
|
rs755254108
|
0.00004
|
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
|
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
|
rs780391791
|
0.00004
|
|
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=)
|
rs768419165
|
0.00004
|
|
NM_000293.3(PHKB):c.*148T>A
|
rs368887864
|
0.00004
|
|
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)
|
rs147021608
|
0.00004
|
|
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)
|
rs773528597
|
0.00004
|
|
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser)
|
rs749953598
|
0.00004
|
|
NM_000293.3(PHKB):c.2427+965A>C
|
rs761645932
|
0.00004
|
|
NM_000293.3(PHKB):c.258C>T (p.Asp86=)
|
rs147357783
|
0.00004
|
|
NM_000293.3(PHKB):c.2626A>G (p.Ile876Val)
|
rs545345880
|
0.00004
|
|
NM_000293.3(PHKB):c.2689T>C (p.Leu897=)
|
rs369059693
|
0.00004
|
|
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr)
|
rs200339326
|
0.00004
|
|
NM_000293.3(PHKB):c.2958G>A (p.Thr986=)
|
rs748651257
|
0.00004
|
|
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
|
rs375389167
|
0.00004
|
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
|
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser)
|
rs746809041
|
0.00004
|
|
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)
|
rs373920188
|
0.00004
|
|
NM_000293.3(PHKB):c.775-10C>G
|
rs753672973
|
0.00004
|
|
NM_000293.3(PHKB):c.775-8C>G
|
rs780221944
|
0.00004
|
|
NM_000293.3(PHKB):c.870+10T>A
|
rs144932435
|
0.00004
|
|
NM_000294.3(PHKG2):c.1071C>G (p.Leu357=)
|
rs200630126
|
0.00004
|
|
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
|
rs373915359
|
0.00004
|
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00004
|
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
|
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)
|
rs118204085
|
0.00004
|
|
NM_000308.4(CTSA):c.1-2A>G
|
rs979557944
|
0.00004
|
|
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro)
|
rs374059459
|
0.00004
|
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
|
NM_000308.4(CTSA):c.1290C>T (p.Tyr430=)
|
rs757162844
|
0.00004
|
|
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
|
rs779275701
|
0.00004
|
|
NM_000308.4(CTSA):c.60del (p.Ser21fs)
|
rs750928198
|
0.00004
|
|
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
|
rs140321228
|
0.00004
|
|
NM_000340.2(SLC2A2):c.*1303T>C
|
rs866750823
|
0.00004
|
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00004
|
|
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys)
|
rs779977931
|
0.00004
|
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
|
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=)
|
rs371899639
|
0.00004
|
|
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter)
|
rs121909743
|
0.00004
|
|
NM_000343.3(SLC5A1):c.-51G>A
|
rs199663392
|
0.00004
|
|
NM_000343.4(SLC5A1):c.*334G>A
|
rs199902294
|
0.00004
|
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
|
NM_000343.4(SLC5A1):c.1918T>C (p.Leu640=)
|
rs201676029
|
0.00004
|
|
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr)
|
rs565272257
|
0.00004
|
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
|
NM_000343.4(SLC5A1):c.885+15T>C
|
rs557130106
|
0.00004
|
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
|
NM_000352.6(ABCC8):c.2117-12C>A
|
rs193922398
|
0.00004
|
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
|
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr)
|
rs751209734
|
0.00004
|
|
NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)
|
rs376413488
|
0.00004
|
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
|
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)
|
rs768448830
|
0.00004
|
|
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)
|
rs775134825
|
0.00004
|
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
0.00004
|
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
|
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
|
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)
|
rs374743072
|
0.00004
|
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
|
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)
|
rs369136858
|
0.00004
|
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
|
NM_000352.6(ABCC8):c.552C>T (p.Leu184=)
|
rs151211613
|
0.00004
|
|
NM_000352.6(ABCC8):c.604A>T (p.Arg202Trp)
|
rs751446018
|
0.00004
|
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
|
NM_000352.6(ABCC8):c.735C>T (p.Ile245=)
|
rs535141079
|
0.00004
|
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
|
NM_000365.6(TPI1):c.690C>T (p.Phe230=)
|
rs782267337
|
0.00004
|
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
|
NM_000404.4(GLB1):c.*224G>T
|
rs557844974
|
0.00004
|
|
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
|
rs761601513
|
0.00004
|
|
NM_000404.4(GLB1):c.1234-8C>G
|
rs376560587
|
0.00004
|
|
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
|
rs201148460
|
0.00004
|
|
NM_000404.4(GLB1):c.1348-7C>T
|
rs774732235
|
0.00004
|
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
|
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met)
|
rs369133124
|
0.00004
|
|
NM_000404.4(GLB1):c.1998G>A (p.Pro666=)
|
rs746939617
|
0.00004
|
|
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr)
|
rs553660803
|
0.00004
|
|
NM_000404.4(GLB1):c.327G>A (p.Arg109=)
|
rs751602590
|
0.00004
|
|
NM_000404.4(GLB1):c.876C>G (p.Ser292=)
|
rs1699010204
|
0.00004
|
|
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=)
|
rs746607723
|
0.00004
|
|
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)
|
rs765074909
|
0.00004
|
|
NM_000458.4(HNF1B):c.1008C>T (p.His336=)
|
rs150268130
|
0.00004
|
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
|
NM_000458.4(HNF1B):c.723G>A (p.Ala241=)
|
rs768490293
|
0.00004
|
|
NM_000507.3(FBP1):c.-246G>T
|
rs921192380
|
0.00004
|
|
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
|
rs199531187
|
0.00004
|
|
NM_000507.4(FBP1):c.567G>A (p.Pro189=)
|
rs376631329
|
0.00004
|
|
NM_000507.4(FBP1):c.606G>A (p.Lys202=)
|
rs111596938
|
0.00004
|
|
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
|
rs28369761
|
0.00004
|
|
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
|
rs576352790
|
0.00004
|
|
NM_000512.5(GALNS):c.*145C>T
|
rs539285988
|
0.00004
|
|
NM_000512.5(GALNS):c.*95T>A
|
rs536448022
|
0.00004
|
|
NM_000512.5(GALNS):c.1002+10C>T
|
rs746669295
|
0.00004
|
|
NM_000512.5(GALNS):c.1139+20C>T
|
rs762116692
|
0.00004
|
|
NM_000512.5(GALNS):c.121-18C>T
|
rs200396173
|
0.00004
|
|
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
|
rs760260706
|
0.00004
|
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
|
NM_000512.5(GALNS):c.168C>G (p.Thr56=)
|
rs368128023
|
0.00004
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000512.5(GALNS):c.24G>A (p.Thr8=)
|
rs904615956
|
0.00004
|
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
|
NM_000512.5(GALNS):c.828C>T (p.His276=)
|
rs759216815
|
0.00004
|
|
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
|
rs377591464
|
0.00004
|
|
NM_000512.5(GALNS):c.899-19A>G
|
rs759805854
|
0.00004
|
|
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)
|
rs768296954
|
0.00004
|
|
NM_000525.4(KCNJ11):c.-6G>A
|
rs554874150
|
0.00004
|
|
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=)
|
rs193922564
|
0.00004
|
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
|
NM_000525.4(KCNJ11):c.912C>T (p.Tyr304=)
|
rs372471215
|
0.00004
|
|
NM_000528.3(MAN2B1):c.-73G>T
|
rs544325509
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1026+9G>A
|
rs762829719
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1110-7G>A
|
rs578109865
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1231-16A>G
|
rs757582067
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1506G>A (p.Pro502=)
|
rs1167317443
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1528-3C>A
|
rs752895909
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile)
|
rs759767616
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1645-3G>A
|
rs748206062
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1755C>G (p.Arg585=)
|
rs759033353
|
0.00004
|
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-13C>T
|
rs760151408
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2166-8G>A
|
rs774350579
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
|
rs749183690
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
|
rs367852398
|
0.00004
|
|
NM_000528.4(MAN2B1):c.263-12T>C
|
rs1444171046
|
0.00004
|
|
NM_000528.4(MAN2B1):c.263-7T>C
|
rs756239857
|
0.00004
|
|
NM_000528.4(MAN2B1):c.263-8A>G
|
rs1463660136
|
0.00004
|
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
|
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)
|
rs370276057
|
0.00004
|
|
NM_000528.4(MAN2B1):c.3015A>G (p.Gln1005=)
|
rs570397849
|
0.00004
|
|
NM_000528.4(MAN2B1):c.552C>A (p.Gly184=)
|
rs993605117
|
0.00004
|
|
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu)
|
rs1196803371
|
0.00004
|
|
NM_000528.4(MAN2B1):c.864C>T (p.Asn288=)
|
rs146909343
|
0.00004
|
|
NM_000528.4(MAN2B1):c.909+9G>A
|
rs767907971
|
0.00004
|
|
NM_000528.4(MAN2B1):c.966T>C (p.Tyr322=)
|
rs762918325
|
0.00004
|
|
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser)
|
rs766790596
|
0.00004
|
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
|
NM_000545.8(HNF1A):c.1383C>T (p.Pro461=)
|
rs772756175
|
0.00004
|
|
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)
|
rs921423540
|
0.00004
|
|
NM_000545.8(HNF1A):c.1502-14T>C
|
rs765596650
|
0.00004
|
|
NM_000545.8(HNF1A):c.150C>T (p.Cys50=)
|
rs193922583
|
0.00004
|
|
NM_000545.8(HNF1A):c.1624-15G>A
|
rs193922585
|
0.00004
|
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
|
NM_000545.8(HNF1A):c.713+13G>A
|
rs755961371
|
0.00004
|
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
|
NM_000642.3(AGL):c.*562del
|
rs886044926
|
0.00004
|
|
NM_000642.3(AGL):c.*670A>G
|
rs886044927
|
0.00004
|
|
NM_000642.3(AGL):c.1049T>C (p.Met350Thr)
|
rs761122742
|
0.00004
|
|
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
|
rs140002583
|
0.00004
|
|
NM_000642.3(AGL):c.1186-9G>A
|
rs375485555
|
0.00004
|
|
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala)
|
rs754419745
|
0.00004
|
|
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)
|
rs754606378
|
0.00004
|
|
NM_000642.3(AGL):c.1611+6G>A
|
rs774806852
|
0.00004
|
|
NM_000642.3(AGL):c.174T>C (p.Asn58=)
|
rs779677453
|
0.00004
|
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
|
NM_000642.3(AGL):c.2001+4T>C
|
rs989274141
|
0.00004
|
|
NM_000642.3(AGL):c.2032A>G (p.Thr678Ala)
|
rs763790850
|
0.00004
|
|
NM_000642.3(AGL):c.2280C>T (p.Ser760=)
|
rs373513564
|
0.00004
|
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
0.00004
|
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
|
NM_000642.3(AGL):c.2434-11T>G
|
rs759744414
|
0.00004
|
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
0.00004
|
|
NM_000642.3(AGL):c.293+9G>C
|
rs368840272
|
0.00004
|
|
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
|
rs779468425
|
0.00004
|
|
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
|
rs369068676
|
0.00004
|
|
NM_000642.3(AGL):c.340C>T (p.Arg114Cys)
|
rs760763834
|
0.00004
|
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
|
NM_000642.3(AGL):c.3837-15G>A
|
rs376026767
|
0.00004
|
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
|
NM_000642.3(AGL):c.4100G>A (p.Gly1367Glu)
|
rs776872571
|
0.00004
|
|
NM_000642.3(AGL):c.4161+11C>T
|
rs886038361
|
0.00004
|
|
NM_000642.3(AGL):c.4293A>G (p.Ala1431=)
|
rs745826435
|
0.00004
|
|
NM_000642.3(AGL):c.487T>C (p.Leu163=)
|
rs749851190
|
0.00004
|
|
NM_000642.3(AGL):c.762T>C (p.Leu254=)
|
rs775268232
|
0.00004
|
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
|
NM_000642.3(AGL):c.78A>G (p.Glu26=)
|
rs143110759
|
0.00004
|
|
NM_000642.3(AGL):c.841A>G (p.Met281Val)
|
rs185838959
|
0.00004
|
|
NM_000642.3(AGL):c.911T>C (p.Val304Ala)
|
rs763076276
|
0.00004
|
|
NM_000642.3(AGL):c.927G>A (p.Ala309=)
|
rs181804327
|
0.00004
|
|
NM_000891.3(KCNJ2):c.*1320C>T
|
rs923732685
|
0.00004
|
|
NM_000891.3(KCNJ2):c.*1440A>T
|
rs886053332
|
0.00004
|
|
NM_000891.3(KCNJ2):c.*2508G>A
|
rs913851832
|
0.00004
|
|
NM_000891.3(KCNJ2):c.*2812T>C
|
rs886053344
|
0.00004
|
|
NM_000891.3(KCNJ2):c.-88C>T
|
rs886053322
|
0.00004
|
|
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=)
|
rs150855087
|
0.00004
|
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
|
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)
|
rs150326473
|
0.00004
|
|
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=)
|
rs183993685
|
0.00004
|
|
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=)
|
rs771056622
|
0.00004
|
|
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)
|
rs777514148
|
0.00004
|
|
NM_000925.4(PDHB):c.96+10G>A
|
rs755528489
|
0.00004
|
|
NM_001008216.2(GALE):c.*69G>A
|
rs543116262
|
0.00004
|
|
NM_001008216.2(GALE):c.-77+340G>C
|
rs568182391
|
0.00004
|
|
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln)
|
rs370693766
|
0.00004
|
|
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)
|
rs770332379
|
0.00004
|
|
NM_001008216.2(GALE):c.794G>A (p.Arg265Gln)
|
rs377362117
|
0.00004
|
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
|
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)
|
rs727503945
|
0.00004
|
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
|
NM_001040716.2(PC):c.*188G>A
|
rs553630251
|
0.00004
|
|
NM_001040716.2(PC):c.1074C>T (p.Pro358=)
|
rs749417596
|
0.00004
|
|
NM_001040716.2(PC):c.1140C>T (p.Thr380=)
|
rs369657359
|
0.00004
|
|
NM_001040716.2(PC):c.1185+13C>T
|
rs369097493
|
0.00004
|
|
NM_001040716.2(PC):c.1296C>T (p.His432=)
|
rs751412938
|
0.00004
|
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
|
NM_001040716.2(PC):c.1614G>A (p.Pro538=)
|
rs35235415
|
0.00004
|
|
NM_001040716.2(PC):c.1704G>A (p.Thr568=)
|
rs549934922
|
0.00004
|
|
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn)
|
rs143725101
|
0.00004
|
|
NM_001040716.2(PC):c.1842C>T (p.Val614=)
|
rs142817472
|
0.00004
|
|
NM_001040716.2(PC):c.2489G>A (p.Arg830His)
|
rs773519800
|
0.00004
|
|
NM_001040716.2(PC):c.258C>T (p.Ile86=)
|
rs982214658
|
0.00004
|
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
|
NM_001040716.2(PC):c.3009G>A (p.Thr1003=)
|
rs377272205
|
0.00004
|
|
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly)
|
rs771700107
|
0.00004
|
|
NM_001040716.2(PC):c.3147+11C>G
|
rs376612922
|
0.00004
|
|
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
|
rs138990904
|
0.00004
|
|
NM_001040716.2(PC):c.495C>T (p.Pro165=)
|
rs372522645
|
0.00004
|
|
NM_001040716.2(PC):c.561C>T (p.Tyr187=)
|
rs145333590
|
0.00004
|
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
|
NM_001040716.2(PC):c.904-16G>A
|
rs189690730
|
0.00004
|
|
NM_001041.4(SI):c.1887+8A>C
|
rs372410648
|
0.00004
|
|
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)
|
rs375458342
|
0.00004
|
|
NM_001041.4(SI):c.2159+11C>T
|
rs761959886
|
0.00004
|
|
NM_001041.4(SI):c.2891C>T (p.Thr964Met)
|
rs369115304
|
0.00004
|
|
NM_001041.4(SI):c.3760-7A>G
|
rs367956129
|
0.00004
|
|
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)
|
rs376972966
|
0.00004
|
|
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)
|
rs376437234
|
0.00004
|
|
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)
|
rs767701775
|
0.00004
|
|
NM_001041.4(SI):c.4692+12C>T
|
rs199581970
|
0.00004
|
|
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)
|
rs369134336
|
0.00004
|
|
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)
|
rs779803851
|
0.00004
|
|
NM_001041.4(SI):c.695G>A (p.Arg232His)
|
rs747345955
|
0.00004
|
|
NM_001064.4(TKT):c.952C>T (p.Arg318Cys)
|
rs782092363
|
0.00004
|
|
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG
|
rs781905246
|
0.00004
|
|
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=)
|
rs778368877
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.2811-4G>A
|
rs374826041
|
0.00004
|
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.-183C>T
|
rs145369754
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1125-41C>T
|
rs782175115
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=)
|
rs376965474
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)
|
rs863224212
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.382-17C>T
|
rs1369693461
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.626+13C>T
|
rs746096087
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)
|
rs782616313
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.785+3A>G
|
rs373543021
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.871+17G>T
|
rs199848791
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.985+248G>A
|
rs369907198
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.986-11G>A
|
rs1487063543
|
0.00004
|
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
|
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)
|
rs751360534
|
0.00004
|
|
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
|
rs765883841
|
0.00004
|
|
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)
|
rs534264493
|
0.00004
|
|
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
|
rs148503847
|
0.00004
|
|
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
|
rs201658390
|
0.00004
|
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
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_001358263.1(HK1):c.4G>A (p.Gly2Arg)
|
rs766565453
|
0.00004
|
|
NM_001360016.2(G6PD):c.121-13C>T
|
rs782558415
|
0.00004
|
|
NM_001360016.2(G6PD):c.1287+18A>G
|
rs782133149
|
0.00004
|
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
|
NM_001360016.2(G6PD):c.268-11G>A
|
rs781983059
|
0.00004
|
|
NM_001360016.2(G6PD):c.435C>T (p.Thr145=)
|
rs1451145498
|
0.00004
|
|
NM_001360016.2(G6PD):c.771-8G>A
|
rs368790003
|
0.00004
|
|
NM_001360016.2(G6PD):c.813G>A (p.Val271=)
|
rs782732134
|
0.00004
|
|
NM_001365304.2(LOC112694756):c.*1508+8T>C
|
rs751467136
|
0.00004
|
|
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp)
|
rs121917718
|
0.00004
|
|
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)
|
rs369459316
|
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_001543.5(NDST1):c.730C>T (p.Arg244Cys)
|
rs375092472
|
0.00004
|
|
NM_001715.3(BLK):c.*371C>A
|
rs774038408
|
0.00004
|
|
NM_001715.3(BLK):c.-201G>A
|
rs1468476015
|
0.00004
|
|
NM_001715.3(BLK):c.-47C>T
|
rs150444590
|
0.00004
|
|
NM_001715.3(BLK):c.153G>A (p.Pro51=)
|
rs746710451
|
0.00004
|
|
NM_001715.3(BLK):c.465C>G (p.Thr155=)
|
rs375035401
|
0.00004
|
|
NM_001715.3(BLK):c.639C>T (p.Cys213=)
|
rs779263158
|
0.00004
|
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
|
NM_001715.3(BLK):c.810G>A (p.Thr270=)
|
rs749767699
|
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_001931.5(DLAT):c.1542G>A (p.Ala514=)
|
rs587652725
|
0.00004
|
|
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)
|
rs782629889
|
0.00004
|
|
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)
|
rs782527135
|
0.00004
|
|
NM_002076.4(GNS):c.*2447G>A
|
rs567930294
|
0.00004
|
|
NM_002076.4(GNS):c.*319C>T
|
rs368523842
|
0.00004
|
|
NM_002076.4(GNS):c.*71T>C
|
rs983471422
|
0.00004
|
|
NM_002076.4(GNS):c.1309-12A>G
|
rs376318831
|
0.00004
|
|
NM_002076.4(GNS):c.1420-9G>A
|
rs980133508
|
0.00004
|
|
NM_002076.4(GNS):c.311C>T (p.Pro104Leu)
|
rs1236473511
|
0.00004
|
|
NM_002076.4(GNS):c.325G>A (p.Val109Ile)
|
rs777717534
|
0.00004
|
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
|
NM_002076.4(GNS):c.42C>T (p.Gly14=)
|
rs925458413
|
0.00004
|
|
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)
|
rs140270805
|
0.00004
|
|
NM_002076.4(GNS):c.77T>C (p.Leu26Pro)
|
rs899951878
|
0.00004
|
|
NM_002076.4(GNS):c.793-9A>G
|
rs780164582
|
0.00004
|
|
NM_002076.4(GNS):c.875+16A>G
|
rs375692142
|
0.00004
|
|
NM_002076.4(GNS):c.886C>G (p.Leu296Val)
|
rs755801592
|
0.00004
|
|
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
|
rs888774422
|
0.00004
|
|
NM_002103.5(GYS1):c.*78C>T
|
rs749720376
|
0.00004
|
|
NM_002103.5(GYS1):c.*969C>T
|
rs900047388
|
0.00004
|
|
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
|
rs776808234
|
0.00004
|
|
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
|
rs369847599
|
0.00004
|
|
NM_002103.5(GYS1):c.1169+18C>T
|
rs745793191
|
0.00004
|
|
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
|
rs746669628
|
0.00004
|
|
NM_002103.5(GYS1):c.1416G>A (p.Arg472=)
|
rs138480890
|
0.00004
|
|
NM_002103.5(GYS1):c.147G>A (p.Thr49=)
|
rs748031807
|
0.00004
|
|
NM_002103.5(GYS1):c.1704C>T (p.Thr568=)
|
rs760568725
|
0.00004
|
|
NM_002103.5(GYS1):c.1904G>A (p.Arg635His)
|
rs200113836
|
0.00004
|
|
NM_002103.5(GYS1):c.206C>T (p.Thr69Met)
|
rs760809851
|
0.00004
|
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
|
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile)
|
rs143186691
|
0.00004
|
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
|
NM_002103.5(GYS1):c.354C>T (p.Asp118=)
|
rs374959862
|
0.00004
|
|
NM_002103.5(GYS1):c.477C>G (p.Thr159=)
|
rs144548792
|
0.00004
|
|
NM_002103.5(GYS1):c.547T>C (p.Leu183=)
|
rs147264448
|
0.00004
|
|
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
|
rs150822415
|
0.00004
|
|
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
|
rs141601517
|
0.00004
|
|
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
|
rs771977818
|
0.00004
|
|
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
|
rs759088871
|
0.00004
|
|
NM_002294.3(LAMP2):c.*4664A>G
|
rs894257602
|
0.00004
|
|
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile)
|
rs183781327
|
0.00004
|
|
NM_002294.3(LAMP2):c.1093+9C>T
|
rs371259269
|
0.00004
|
|
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met)
|
rs730880126
|
0.00004
|
|
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val)
|
rs397516741
|
0.00004
|
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
|
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile)
|
rs141574558
|
0.00004
|
|
NM_002294.3(LAMP2):c.65-13T>A
|
rs727503121
|
0.00004
|
|
NM_002294.3(LAMP2):c.928+6C>T
|
rs769837038
|
0.00004
|
|
NM_002294.3(LAMP2):c.929-5T>C
|
rs375341409
|
0.00004
|
|
NM_002299.4(LCT):c.4224G>A (p.Thr1408=)
|
rs199901583
|
0.00004
|
|
NM_002300.8(LDHB):c.375C>T (p.Ile125=)
|
rs141707607
|
0.00004
|
|
NM_002500.5(NEUROD1):c.*718C>T
|
rs886055320
|
0.00004
|
|
NM_002500.5(NEUROD1):c.-81C>T
|
rs567688779
|
0.00004
|
|
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln)
|
rs201542440
|
0.00004
|
|
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys)
|
rs780520468
|
0.00004
|
|
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser)
|
rs375390710
|
0.00004
|
|
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)
|
rs368727469
|
0.00004
|
|
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)
|
rs202197769
|
0.00004
|
|
NM_002637.4(PHKA1):c.*1797A>G
|
rs1296603872
|
0.00004
|
|
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
|
rs782036622
|
0.00004
|
|
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu)
|
rs868916849
|
0.00004
|
|
NM_002637.4(PHKA1):c.1794-7T>A
|
rs376754554
|
0.00004
|
|
NM_002637.4(PHKA1):c.2230-20C>T
|
rs374639781
|
0.00004
|
|
NM_002637.4(PHKA1):c.750A>G (p.Ser250=)
|
rs201801654
|
0.00004
|
|
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala)
|
rs1318462080
|
0.00004
|
|
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln)
|
rs369207678
|
0.00004
|
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
|
NM_002863.5(PYGL):c.1731G>C (p.Gln577His)
|
rs368171220
|
0.00004
|
|
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu)
|
rs760187622
|
0.00004
|
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
|
NM_003041.4(SLC5A2):c.1280+1G>A
|
rs554372141
|
0.00004
|
|
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)
|
rs535031004
|
0.00004
|
|
NM_003051.3(SLC16A1):c.-218G>A
|
rs761334745
|
0.00004
|
|
NM_003051.4(SLC16A1):c.*77C>T
|
rs868304120
|
0.00004
|
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
|
NM_003384.3(VRK1):c.1170C>G (p.Thr390=)
|
rs776701715
|
0.00004
|
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
|
NM_003477.3(PDHX):c.1188A>G (p.Leu396=)
|
rs200434738
|
0.00004
|
|
NM_003597.5(KLF11):c.*1990T>C
|
rs911685125
|
0.00004
|
|
NM_003597.5(KLF11):c.1259-2_1259-1del
|
rs770555623
|
0.00004
|
|
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)
|
rs370039403
|
0.00004
|
|
NM_003619.4(PRSS12):c.*800G>A
|
rs1368772207
|
0.00004
|
|
NM_003619.4(PRSS12):c.177G>A (p.Pro59=)
|
rs746966869
|
0.00004
|
|
NM_003619.4(PRSS12):c.1916+11C>T
|
rs775761093
|
0.00004
|
|
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=)
|
rs138882049
|
0.00004
|
|
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter)
|
rs751423861
|
0.00004
|
|
NM_003619.4(PRSS12):c.890A>G (p.His297Arg)
|
rs756685819
|
0.00004
|
|
NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr)
|
rs542123045
|
0.00004
|
|
NM_004130.4(GYG1):c.614G>T (p.Gly205Val)
|
rs763516254
|
0.00004
|
|
NM_004130.4(GYG1):c.8-15T>C
|
rs781644209
|
0.00004
|
|
NM_004130.4(GYG1):c.928G>C (p.Ala310Pro)
|
rs1363436975
|
0.00004
|
|
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)
|
rs746104381
|
0.00004
|
|
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
|
rs1313982001
|
0.00004
|
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
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_005566.4(LDHA):c.*666C>T
|
rs923756666
|
0.00004
|
|
NM_005566.4(LDHA):c.*745T>C
|
rs867222703
|
0.00004
|
|
NM_005566.4(LDHA):c.951G>A (p.Lys317=)
|
rs145889467
|
0.00004
|
|
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp)
|
rs761807664
|
0.00004
|
|
NM_005609.4(PYGM):c.1185G>A (p.Thr395=)
|
rs1347426590
|
0.00004
|
|
NM_005609.4(PYGM):c.1218G>T (p.Glu406Asp)
|
rs757762621
|
0.00004
|
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
|
NM_005609.4(PYGM):c.131G>A (p.Arg44His)
|
rs567482511
|
0.00004
|
|
NM_005609.4(PYGM):c.1353C>T (p.His451=)
|
rs377599118
|
0.00004
|
|
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
|
rs377371768
|
0.00004
|
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
|
NM_005609.4(PYGM):c.1518+14G>A
|
rs755630318
|
0.00004
|
|
NM_005609.4(PYGM):c.1539C>T (p.Ile513=)
|
rs750948324
|
0.00004
|
|
NM_005609.4(PYGM):c.1716C>T (p.His572=)
|
rs754944948
|
0.00004
|
|
NM_005609.4(PYGM):c.1905G>A (p.Pro635=)
|
rs759582306
|
0.00004
|
|
NM_005609.4(PYGM):c.1926T>C (p.Arg642=)
|
rs779048512
|
0.00004
|
|
NM_005609.4(PYGM):c.213G>A (p.Thr71=)
|
rs771239946
|
0.00004
|
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
|
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)
|
rs757292296
|
0.00004
|
|
NM_005609.4(PYGM):c.424+16C>T
|
rs201194596
|
0.00004
|
|
NM_005609.4(PYGM):c.528+9C>T
|
rs371349986
|
0.00004
|
|
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys)
|
rs141055359
|
0.00004
|
|
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser)
|
rs143071876
|
0.00004
|
|
NM_005609.4(PYGM):c.897C>T (p.Phe299=)
|
rs114363966
|
0.00004
|
|
NM_005609.4(PYGM):c.929G>A (p.Arg310His)
|
rs759130375
|
0.00004
|
|
NM_005908.4(MANBA):c.1131G>C (p.Gln377His)
|
rs762175890
|
0.00004
|
|
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg)
|
rs776864457
|
0.00004
|
|
NM_005908.4(MANBA):c.1318-1G>T
|
rs374545788
|
0.00004
|
|
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys)
|
rs200133664
|
0.00004
|
|
NM_005908.4(MANBA):c.178-10G>A
|
rs376203233
|
0.00004
|
|
NM_005908.4(MANBA):c.2158-8C>T
|
rs770698295
|
0.00004
|
|
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu)
|
rs376410219
|
0.00004
|
|
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
|
rs775841860
|
0.00004
|
|
NM_005908.4(MANBA):c.673+19T>C
|
rs772893130
|
0.00004
|
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00004
|
|
NM_006488.3(KHK):c.*554C>T
|
rs558714226
|
0.00004
|
|
NM_006488.3(KHK):c.-379T>A
|
rs886055883
|
0.00004
|
|
NM_006488.3(KHK):c.210-253G>A
|
rs780961189
|
0.00004
|
|
NM_006488.3(KHK):c.473C>A (p.Thr158Asn)
|
rs773003580
|
0.00004
|
|
NM_006488.3(KHK):c.698T>G (p.Leu233Arg)
|
rs768902999
|
0.00004
|
|
NM_006516.4(SLC2A1):c.-129G>T
|
rs936174986
|
0.00004
|
|
NM_006516.4(SLC2A1):c.-192G>C
|
rs886046342
|
0.00004
|
|
NM_006516.4(SLC2A1):c.-194G>A
|
rs984267596
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val)
|
rs769943554
|
0.00004
|
|
NM_006516.4(SLC2A1):c.125A>C (p.Glu42Ala)
|
rs748082803
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
|
NM_006516.4(SLC2A1):c.1435C>A (p.Pro479Thr)
|
rs749067830
|
0.00004
|
|
NM_006516.4(SLC2A1):c.180G>A (p.Thr60=)
|
rs780638574
|
0.00004
|
|
NM_006516.4(SLC2A1):c.276-19C>T
|
rs74945664
|
0.00004
|
|
NM_006516.4(SLC2A1):c.606C>T (p.Ile202=)
|
rs779779804
|
0.00004
|
|
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His)
|
rs374080633
|
0.00004
|
|
NM_006516.4(SLC2A1):c.657C>T (p.Asn219=)
|
rs534113895
|
0.00004
|
|
NM_006516.4(SLC2A1):c.822C>T (p.Ile274=)
|
rs368242382
|
0.00004
|
|
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=)
|
rs55693364
|
0.00004
|
|
NM_006721.4(ADK):c.*296G>A
|
rs527621742
|
0.00004
|
|
NM_006755.2(TALDO1):c.726C>T (p.Gly242=)
|
rs764708645
|
0.00004
|
|
NM_006765.4(TUSC3):c.557C>T (p.Thr186Met)
|
rs768790010
|
0.00004
|
|
NM_006765.4(TUSC3):c.938-12G>C
|
rs762105504
|
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_012203.2(GRHPR):c.255C>T (p.Ile85=)
|
rs372985143
|
0.00004
|
|
NM_012203.2(GRHPR):c.384G>A (p.Glu128=)
|
rs372351685
|
0.00004
|
|
NM_012434.5(SLC17A5):c.*1696T>C
|
rs886061724
|
0.00004
|
|
NM_012434.5(SLC17A5):c.*373G>A
|
rs886061734
|
0.00004
|
|
NM_012434.5(SLC17A5):c.1426C>T (p.Leu476=)
|
rs773917333
|
0.00004
|
|
NM_012434.5(SLC17A5):c.189G>A (p.Ala63=)
|
rs924848481
|
0.00004
|
|
NM_012434.5(SLC17A5):c.526-4T>A
|
rs759145883
|
0.00004
|
|
NM_012434.5(SLC17A5):c.614-10G>A
|
rs565101031
|
0.00004
|
|
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val)
|
rs781359811
|
0.00004
|
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
0.00004
|
|
NM_012434.5(SLC17A5):c.72G>C (p.Pro24=)
|
rs974333245
|
0.00004
|
|
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser)
|
rs375853628
|
0.00004
|
|
NM_014026.6(DCPS):c.386C>T (p.Thr129Met)
|
rs201550193
|
0.00004
|
|
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn)
|
rs772776014
|
0.00004
|
|
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln)
|
rs200756109
|
0.00004
|
|
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg)
|
rs761728678
|
0.00004
|
|
NM_016042.4(EXOSC3):c.24G>T (p.Ala8=)
|
rs755145404
|
0.00004
|
|
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=)
|
rs910605187
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1051+10A>G
|
rs773560289
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1335C>T (p.Ile445=)
|
rs781153622
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1614A>G (p.Ala538=)
|
rs368852903
|
0.00004
|
|
NM_016203.4(PRKAG2):c.165C>T (p.Ser55=)
|
rs202056358
|
0.00004
|
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
|
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)
|
rs540525001
|
0.00004
|
|
NM_016203.4(PRKAG2):c.312C>T (p.Thr104=)
|
rs397517268
|
0.00004
|
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
|
NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)
|
rs556852534
|
0.00004
|
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
|
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)
|
rs201735117
|
0.00004
|
|
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=)
|
rs764162597
|
0.00004
|
|
NM_016219.5(MAN1B1):c.*191G>A
|
rs1035235945
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala)
|
rs369551783
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val)
|
rs752395239
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys)
|
rs757690679
|
0.00004
|
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
|
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=)
|
rs558619741
|
0.00004
|
|
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala)
|
rs575503145
|
0.00004
|
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
|
NM_016219.5(MAN1B1):c.731-6del
|
rs762904705
|
0.00004
|
|
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val)
|
rs201665162
|
0.00004
|
|
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His)
|
rs760191095
|
0.00004
|
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00004
|
|
NM_017755.6(NSUN2):c.1022-3C>T
|
rs370183139
|
0.00004
|
|
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)
|
rs555425016
|
0.00004
|
|
NM_021957.4(GYS2):c.1015G>C (p.Ala339Pro)
|
rs121918421
|
0.00004
|
|
NM_021957.4(GYS2):c.1128C>T (p.Asn376=)
|
rs139043251
|
0.00004
|
|
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly)
|
rs767441371
|
0.00004
|
|
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=)
|
rs571493564
|
0.00004
|
|
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
|
rs774019135
|
0.00004
|
|
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg)
|
rs376935348
|
0.00004
|
|
NM_021957.4(GYS2):c.60C>T (p.Val20=)
|
rs779375076
|
0.00004
|
|
NM_021957.4(GYS2):c.678+15C>T
|
rs746053377
|
0.00004
|
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
|
NM_022042.4(SLC26A1):c.*875G>A
|
rs559064100
|
0.00004
|
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
|
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu)
|
rs774928119
|
0.00004
|
|
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg)
|
rs778564417
|
0.00004
|
|
NM_024989.4(PGAP1):c.1008T>C (p.Asn336=)
|
rs189590639
|
0.00004
|
|
NM_024989.4(PGAP1):c.1691T>C (p.Leu564Ser)
|
rs572992003
|
0.00004
|
|
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)
|
rs769577378
|
0.00004
|
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
|
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)
|
rs745554603
|
0.00004
|
|
NM_024989.4(PGAP1):c.546A>G (p.Ala182=)
|
rs551623105
|
0.00004
|
|
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
|
rs776253021
|
0.00004
|
|
NM_031229.4(RBCK1):c.132A>T (p.Gln44His)
|
rs145132343
|
0.00004
|
|
NM_031229.4(RBCK1):c.1356C>T (p.Ile452=)
|
rs746385953
|
0.00004
|
|
NM_031229.4(RBCK1):c.1374C>T (p.Asp458=)
|
rs780494996
|
0.00004
|
|
NM_031229.4(RBCK1):c.1428C>T (p.Thr476=)
|
rs375635112
|
0.00004
|
|
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
|
rs749184826
|
0.00004
|
|
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
|
rs371527119
|
0.00004
|
|
NM_031229.4(RBCK1):c.513C>G (p.Gly171=)
|
rs777854248
|
0.00004
|
|
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val)
|
rs780587700
|
0.00004
|
|
NM_031229.4(RBCK1):c.69T>G (p.Asp23Glu)
|
rs748386516
|
0.00004
|
|
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)
|
rs111283441
|
0.00004
|
|
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)
|
rs758729708
|
0.00004
|
|
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
|
rs144105841
|
0.00004
|
|
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)
|
rs759203606
|
0.00004
|
|
NM_033159.4(HYAL1):c.1188G>T (p.Gly396=)
|
rs781878519
|
0.00004
|
|
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)
|
rs368957453
|
0.00004
|
|
NM_033159.4(HYAL1):c.14T>C (p.Leu5Pro)
|
rs138329304
|
0.00004
|
|
NM_033159.4(HYAL1):c.258G>A (p.Thr86=)
|
rs1185256255
|
0.00004
|
|
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)
|
rs587637619
|
0.00004
|
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
|
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)
|
rs138211167
|
0.00004
|
|
NM_053013.4(ENO3):c.182-16C>T
|
rs557068790
|
0.00004
|
|
NM_053013.4(ENO3):c.548G>A (p.Arg183His)
|
rs756594079
|
0.00004
|
|
NM_053013.4(ENO3):c.64G>A (p.Val22Met)
|
rs148673221
|
0.00004
|
|
NM_053013.4(ENO3):c.806G>A (p.Arg269Gln)
|
rs754758809
|
0.00004
|
|
NM_053013.4(ENO3):c.83A>C (p.Lys28Thr)
|
rs751639631
|
0.00004
|
|
NM_138413.4(HOGA1):c.216C>T (p.Phe72=)
|
rs780606715
|
0.00004
|
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
0.00004
|
|
NM_138413.4(HOGA1):c.309C>T (p.Asn103=)
|
rs772566254
|
0.00004
|
|
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)
|
rs149896778
|
0.00004
|
|
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe)
|
rs745919223
|
0.00004
|
|
NM_138413.4(HOGA1):c.538G>A (p.Val180Met)
|
rs114177505
|
0.00004
|
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
|
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)
|
rs368276974
|
0.00004
|
|
NM_138413.4(HOGA1):c.769T>G (p.Cys257Gly)
|
rs267606764
|
0.00004
|
|
NM_152419.3(HGSNAT):c.*1112C>T
|
rs1403363860
|
0.00004
|
|
NM_152419.3(HGSNAT):c.*1378C>T
|
rs886062960
|
0.00004
|
|
NM_152419.3(HGSNAT):c.*2233G>A
|
rs372413542
|
0.00004
|
|
NM_152419.3(HGSNAT):c.*2643G>A
|
rs141803972
|
0.00004
|
|
NM_152419.3(HGSNAT):c.-3G>C
|
rs1162962895
|
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_153281.2(HYAL1):c.-191+15A>G
|
rs886058695
|
0.00004
|
|
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly)
|
rs751068367
|
0.00004
|
|
NM_175914.5(HNF4A):c.*1828G>A
|
rs759101859
|
0.00004
|
|
NM_175914.5(HNF4A):c.*1C>A
|
rs201330472
|
0.00004
|
|
NM_175914.5(HNF4A):c.*2297C>A
|
rs1341485123
|
0.00004
|
|
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=)
|
rs751892618
|
0.00004
|
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
|
NM_175914.5(HNF4A):c.468G>A (p.Ala156=)
|
rs758124162
|
0.00004
|
|
NM_175914.5(HNF4A):c.50-4700G>A
|
rs568730599
|
0.00004
|
|
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)
|
rs773661614
|
0.00004
|
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
|
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)
|
rs144863228
|
0.00004
|
|
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)
|
rs370044232
|
0.00004
|
|
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
|
rs376655413
|
0.00004
|
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
|
NM_000027.4(AGA):c.319C>T (p.Arg107Ter)
|
rs765070743
|
0.00003
|
|
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)
|
rs386833428
|
0.00003
|
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
|
NM_000027.4(AGA):c.696T>C (p.His232=)
|
rs1211143576
|
0.00003
|
|
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
|
rs763018918
|
0.00003
|
|
NM_000030.3(AGXT):c.-14G>A
|
rs376396832
|
0.00003
|
|
NM_000030.3(AGXT):c.1071+13G>A
|
rs758413374
|
0.00003
|
|
NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)
|
rs180177173
|
0.00003
|
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
|
NM_000030.3(AGXT):c.423+12G>A
|
rs574091775
|
0.00003
|
|
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
|
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
|
rs536205988
|
0.00003
|
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00003
|
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
|
NM_000035.4(ALDOB):c.*209C>T
|
rs1038724691
|
0.00003
|
|
NM_000035.4(ALDOB):c.-11+1G>C
|
rs181639417
|
0.00003
|
|
NM_000035.4(ALDOB):c.128G>A (p.Arg43His)
|
rs780442649
|
0.00003
|
|
NM_000035.4(ALDOB):c.507C>T (p.Asn169=)
|
rs746351347
|
0.00003
|
|
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys)
|
rs778058461
|
0.00003
|
|
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=)
|
rs752902486
|
0.00003
|
|
NM_000046.5(ARSB):c.*1326G>T
|
rs974942925
|
0.00003
|
|
NM_000046.5(ARSB):c.-19G>A
|
rs575001282
|
0.00003
|
|
NM_000046.5(ARSB):c.129G>A (p.Arg43=)
|
rs761491971
|
0.00003
|
|
NM_000046.5(ARSB):c.1336+2T>G
|
rs768012515
|
0.00003
|
|
NM_000046.5(ARSB):c.1500C>T (p.Ser500=)
|
rs762978908
|
0.00003
|
|
NM_000046.5(ARSB):c.1502G>A (p.Arg501His)
|
rs190643827
|
0.00003
|
|
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
|
rs397514441
|
0.00003
|
|
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu)
|
rs757310157
|
0.00003
|
|
NM_000046.5(ARSB):c.313-14T>A
|
rs764757378
|
0.00003
|
|
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg)
|
rs371631385
|
0.00003
|
|
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
|
rs778159305
|
0.00003
|
|
NM_000046.5(ARSB):c.501A>G (p.Gly167=)
|
rs774949257
|
0.00003
|
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
|
NM_000046.5(ARSB):c.960C>T (p.Ser320=)
|
rs762614315
|
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_000147.5(FUCA1):c.*342C>A
|
rs1023386054
|
0.00003
|
|
NM_000147.5(FUCA1):c.*97T>C
|
rs1639121464
|
0.00003
|
|
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val)
|
rs766121368
|
0.00003
|
|
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
|
rs754110650
|
0.00003
|
|
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg)
|
rs551560114
|
0.00003
|
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
|
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)
|
rs387906505
|
0.00003
|
|
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
|
rs751959283
|
0.00003
|
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
|
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
|
rs754345839
|
0.00003
|
|
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
|
rs368041878
|
0.00003
|
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
|
NM_000152.5(GAA):c.1059G>A (p.Gln353=)
|
rs376146090
|
0.00003
|
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
|
NM_000152.5(GAA):c.1129G>C (p.Gly377Arg)
|
rs752002666
|
0.00003
|
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
|
NM_000152.5(GAA):c.1316T>A (p.Met439Lys)
|
rs747610090
|
0.00003
|
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
|
NM_000152.5(GAA):c.1437+8G>A
|
rs779194427
|
0.00003
|
|
NM_000152.5(GAA):c.1636+10C>A
|
rs778634411
|
0.00003
|
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
|
NM_000152.5(GAA):c.1754+16C>T
|
rs369836797
|
0.00003
|
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
|
NM_000152.5(GAA):c.1803G>A (p.Ser601=)
|
rs368993048
|
0.00003
|
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
|
NM_000152.5(GAA):c.18G>C (p.Pro6=)
|
rs774703637
|
0.00003
|
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
|
NM_000152.5(GAA):c.2481+14G>A
|
rs749667983
|
0.00003
|
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
|
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln)
|
rs747076541
|
0.00003
|
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
|
NM_000152.5(GAA):c.2739C>G (p.Pro913=)
|
rs370765733
|
0.00003
|
|
NM_000152.5(GAA):c.2757C>T (p.Asn919=)
|
rs766916186
|
0.00003
|
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
|
NM_000152.5(GAA):c.351G>A (p.Leu117=)
|
rs574947353
|
0.00003
|
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
|
NM_000152.5(GAA):c.654C>T (p.Phe218=)
|
rs762830719
|
0.00003
|
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
|
NM_000152.5(GAA):c.69C>T (p.Thr23=)
|
rs746351336
|
0.00003
|
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
|
NM_000152.5(GAA):c.855C>A (p.Pro285=)
|
rs754080080
|
0.00003
|
|
NM_000152.5(GAA):c.867G>A (p.Ala289=)
|
rs534515557
|
0.00003
|
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
|
NM_000154.2(GALK1):c.-44C>T
|
rs758902207
|
0.00003
|
|
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys)
|
rs769167240
|
0.00003
|
|
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
|
rs373829335
|
0.00003
|
|
NM_000154.2(GALK1):c.1108-12C>T
|
rs755467791
|
0.00003
|
|
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
|
rs1303520004
|
0.00003
|
|
NM_000154.2(GALK1):c.382G>A (p.Val128Met)
|
rs767156604
|
0.00003
|
|
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
|
rs905607688
|
0.00003
|
|
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
|
rs147739431
|
0.00003
|
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
|
NM_000155.4(GALT):c.1059+24G>A
|
rs111033840
|
0.00003
|
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
|
NM_000155.4(GALT):c.210T>G (p.Pro70=)
|
rs528320335
|
0.00003
|
|
NM_000155.4(GALT):c.231G>A (p.Gly77=)
|
rs1269693119
|
0.00003
|
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
|
NM_000155.4(GALT):c.378-9A>G
|
rs371470838
|
0.00003
|
|
NM_000155.4(GALT):c.413C>T (p.Thr138Met)
|
rs111033686
|
0.00003
|
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
0.00003
|
|
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)
|
rs1413579895
|
0.00003
|
|
NM_000155.4(GALT):c.777G>A (p.Arg259=)
|
rs111033761
|
0.00003
|
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
|
NM_000155.4(GALT):c.904+2T>G
|
rs886063885
|
0.00003
|
|
NM_000155.4(GALT):c.957C>T (p.His319=)
|
rs111033792
|
0.00003
|
|
NM_000158.4(GBE1):c.*395A>G
|
rs138608612
|
0.00003
|
|
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
|
rs772442784
|
0.00003
|
|
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala)
|
rs745594101
|
0.00003
|
|
NM_000158.4(GBE1):c.143+6G>A
|
rs371048718
|
0.00003
|
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
|
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly)
|
rs747404758
|
0.00003
|
|
NM_000158.4(GBE1):c.153G>C (p.Gln51His)
|
rs760281369
|
0.00003
|
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
|
NM_000158.4(GBE1):c.1804-20_1804-19del
|
rs776287786
|
0.00003
|
|
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
|
rs1399020199
|
0.00003
|
|
NM_000158.4(GBE1):c.20C>T (p.Pro7Leu)
|
rs765422566
|
0.00003
|
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
|
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
|
rs774709930
|
0.00003
|
|
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
|
rs766421967
|
0.00003
|
|
NM_000158.4(GBE1):c.501A>G (p.Glu167=)
|
rs778442735
|
0.00003
|
|
NM_000158.4(GBE1):c.583C>T (p.Arg195Trp)
|
rs371086146
|
0.00003
|
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
|
NM_000162.5(GCK):c.-135G>A
|
rs746492953
|
0.00003
|
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
|
NM_000162.5(GCK):c.-5T>C
|
rs193922251
|
0.00003
|
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
|
NM_000162.5(GCK):c.138G>A (p.Arg46=)
|
rs550111033
|
0.00003
|
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
|
NM_000162.5(GCK):c.348C>T (p.Thr116=)
|
rs770145567
|
0.00003
|
|
NM_000175.5(GPI):c.-9A>G
|
rs552574934
|
0.00003
|
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
|
NM_000181.4(GUSB):c.-20C>T
|
rs577269089
|
0.00003
|
|
NM_000181.4(GUSB):c.1224C>T (p.Pro408=)
|
rs757418833
|
0.00003
|
|
NM_000181.4(GUSB):c.1470C>T (p.Asp490=)
|
rs143084006
|
0.00003
|
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
|
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
|
rs779147312
|
0.00003
|
|
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
|
rs1268678201
|
0.00003
|
|
NM_000181.4(GUSB):c.633C>T (p.Tyr211=)
|
rs140278510
|
0.00003
|
|
NM_000199.5(SGSH):c.*309G>A
|
rs566654466
|
0.00003
|
|
NM_000199.5(SGSH):c.*459C>T
|
rs532130517
|
0.00003
|
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
|
NM_000199.5(SGSH):c.117G>A (p.Ala39=)
|
rs201132655
|
0.00003
|
|
NM_000199.5(SGSH):c.1197C>T (p.Asp399=)
|
rs371397297
|
0.00003
|
|
NM_000199.5(SGSH):c.1303C>T (p.Arg435Cys)
|
rs373496399
|
0.00003
|
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
|
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val)
|
rs145490072
|
0.00003
|
|
NM_000199.5(SGSH):c.1365G>A (p.Pro455=)
|
rs750709138
|
0.00003
|
|
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
|
rs764585957
|
0.00003
|
|
NM_000199.5(SGSH):c.250-10T>C
|
rs771639203
|
0.00003
|
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
0.00003
|
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
|
NM_000199.5(SGSH):c.633C>A (p.Thr211=)
|
rs187147954
|
0.00003
|
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
|
NM_000199.5(SGSH):c.745+9G>A
|
rs559165082
|
0.00003
|
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
|
NM_000199.5(SGSH):c.88+9C>G
|
rs750932804
|
0.00003
|
|
NM_000199.5(SGSH):c.936C>T (p.Tyr312=)
|
rs147716878
|
0.00003
|
|
NM_000199.5(SGSH):c.950-65C>T
|
rs537972451
|
0.00003
|
|
NM_000199.5(SGSH):c.987G>A (p.Pro329=)
|
rs752176531
|
0.00003
|
|
NM_000202.8(IDS):c.1047C>T (p.Ser349=)
|
rs375836575
|
0.00003
|
|
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
|
rs782588855
|
0.00003
|
|
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
|
rs373820890
|
0.00003
|
|
NM_000202.8(IDS):c.1284C>T (p.His428=)
|
rs782163574
|
0.00003
|
|
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys)
|
rs782340858
|
0.00003
|
|
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
|
rs1174495581
|
0.00003
|
|
NM_000202.8(IDS):c.477T>C (p.His159=)
|
rs782649306
|
0.00003
|
|
NM_000202.8(IDS):c.684A>G (p.Pro228=)
|
rs782561677
|
0.00003
|
|
NM_000202.8(IDS):c.759C>T (p.Pro253=)
|
rs1214276270
|
0.00003
|
|
NM_000202.8(IDS):c.852G>A (p.Pro284=)
|
rs782470007
|
0.00003
|
|
NM_000202.8(IDS):c.982A>G (p.Ile328Val)
|
rs782156020
|
0.00003
|
|
NM_000203.5(IDUA):c.10C>T (p.Leu4=)
|
rs1042371669
|
0.00003
|
|
NM_000203.5(IDUA):c.1189+7C>T
|
rs200516322
|
0.00003
|
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
|
NM_000203.5(IDUA):c.1288C>T (p.Pro430Ser)
|
rs1340171664
|
0.00003
|
|
NM_000203.5(IDUA):c.1365G>C (p.Ala455=)
|
rs1454281576
|
0.00003
|
|
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)
|
rs1324471292
|
0.00003
|
|
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=)
|
rs370257928
|
0.00003
|
|
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)
|
rs772416503
|
0.00003
|
|
NM_000203.5(IDUA):c.1525-6G>A
|
rs1560549741
|
0.00003
|
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
|
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)
|
rs950213013
|
0.00003
|
|
NM_000203.5(IDUA):c.1734G>C (p.Leu578=)
|
rs769042694
|
0.00003
|
|
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val)
|
rs138826105
|
0.00003
|
|
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
|
rs372033248
|
0.00003
|
|
NM_000203.5(IDUA):c.1828+16G>A
|
rs368043087
|
0.00003
|
|
NM_000203.5(IDUA):c.300-19G>A
|
rs774712987
|
0.00003
|
|
NM_000203.5(IDUA):c.493+8A>G
|
rs770967204
|
0.00003
|
|
NM_000203.5(IDUA):c.510G>A (p.Ala170=)
|
rs754039388
|
0.00003
|
|
NM_000203.5(IDUA):c.589+10G>A
|
rs772970567
|
0.00003
|
|
NM_000203.5(IDUA):c.708C>A (p.Gly236=)
|
rs765110155
|
0.00003
|
|
NM_000203.5(IDUA):c.792+12C>T
|
rs757783999
|
0.00003
|
|
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg)
|
rs369090960
|
0.00003
|
|
NM_000207.3(INS):c.130G>A (p.Gly44Arg)
|
rs765512575
|
0.00003
|
|
NM_000207.3(INS):c.16C>T (p.Arg6Cys)
|
rs121908278
|
0.00003
|
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
|
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)
|
rs753881947
|
0.00003
|
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
|
NM_000262.3(NAGA):c.*1252T>C
|
rs886057593
|
0.00003
|
|
NM_000262.3(NAGA):c.110G>A (p.Arg37His)
|
rs199834981
|
0.00003
|
|
NM_000262.3(NAGA):c.598-10C>T
|
rs776249174
|
0.00003
|
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
|
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)
|
rs368220690
|
0.00003
|
|
NM_000263.4(NAGLU):c.1021+8G>T
|
rs749198686
|
0.00003
|
|
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
|
rs766094935
|
0.00003
|
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
|
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
|
rs376593763
|
0.00003
|
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
|
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=)
|
rs762031686
|
0.00003
|
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
|
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His)
|
rs104894590
|
0.00003
|
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
|
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro)
|
rs750668298
|
0.00003
|
|
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
|
rs1229160465
|
0.00003
|
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
|
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
|
rs575956298
|
0.00003
|
|
NM_000263.4(NAGLU):c.531+10C>T
|
rs373999016
|
0.00003
|
|
NM_000263.4(NAGLU):c.741G>C (p.Gly247=)
|
rs760463334
|
0.00003
|
|
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
|
rs776459470
|
0.00003
|
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
|
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
|
rs759609134
|
0.00003
|
|
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=)
|
rs775280711
|
0.00003
|
|
NM_000284.4(PDHA1):c.139G>A (p.Glu47Lys)
|
rs745312079
|
0.00003
|
|
NM_000284.4(PDHA1):c.390C>T (p.Ser130=)
|
rs756138817
|
0.00003
|
|
NM_000284.4(PDHA1):c.42C>T (p.Gly14=)
|
rs778260543
|
0.00003
|
|
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
|
rs770667770
|
0.00003
|
|
NM_000284.4(PDHA1):c.899+8C>T
|
rs766362480
|
0.00003
|
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
|
NM_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
|
NM_000289.6(PFKM):c.1158G>A (p.Lys386=)
|
rs1216904332
|
0.00003
|
|
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile)
|
rs774425888
|
0.00003
|
|
NM_000289.6(PFKM):c.1311T>C (p.His437=)
|
rs369182995
|
0.00003
|
|
NM_000289.6(PFKM):c.1413-20C>T
|
rs771066629
|
0.00003
|
|
NM_000289.6(PFKM):c.2092+17C>T
|
rs773403779
|
0.00003
|
|
NM_000289.6(PFKM):c.2092+9G>T
|
rs371778846
|
0.00003
|
|
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
|
rs771535478
|
0.00003
|
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
|
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser)
|
rs143485300
|
0.00003
|
|
NM_000290.4(PGAM2):c.381C>T (p.Asp127=)
|
rs530105632
|
0.00003
|
|
NM_000290.4(PGAM2):c.636G>A (p.Thr212=)
|
rs755991460
|
0.00003
|
|
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
|
rs369482159
|
0.00003
|
|
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala)
|
rs782119990
|
0.00003
|
|
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00003
|
|
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)
|
rs756254299
|
0.00003
|
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
|
NM_000292.3(PHKA2):c.285+12C>T
|
rs765795350
|
0.00003
|
|
NM_000292.3(PHKA2):c.718-19C>T
|
rs770389791
|
0.00003
|
|
NM_000293.3(PHKB):c.204C>T (p.Thr68=)
|
rs759882590
|
0.00003
|
|
NM_000293.3(PHKB):c.2343G>A (p.Ala781=)
|
rs764952326
|
0.00003
|
|
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=)
|
rs570705767
|
0.00003
|
|
NM_000293.3(PHKB):c.2856G>A (p.Thr952=)
|
rs191428598
|
0.00003
|
|
NM_000293.3(PHKB):c.305+10T>G
|
rs763432163
|
0.00003
|
|
NM_000293.3(PHKB):c.447T>C (p.Leu149=)
|
rs374963473
|
0.00003
|
|
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
|
rs367667135
|
0.00003
|
|
NM_000293.3(PHKB):c.870+7C>T
|
rs372819242
|
0.00003
|
|
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser)
|
rs746454503
|
0.00003
|
|
NM_000294.3(PHKG2):c.*47G>A
|
rs767591090
|
0.00003
|
|
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
|
rs564686049
|
0.00003
|
|
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val)
|
rs770253840
|
0.00003
|
|
NM_000294.3(PHKG2):c.802-17C>T
|
rs772388120
|
0.00003
|
|
NM_000294.3(PHKG2):c.911C>A (p.Pro304His)
|
rs781099286
|
0.00003
|
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
|
NM_000308.4(CTSA):c.-17G>A
|
rs372800409
|
0.00003
|
|
NM_000308.4(CTSA):c.-6G>A
|
rs1471695726
|
0.00003
|
|
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln)
|
rs375345060
|
0.00003
|
|
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln)
|
rs370763298
|
0.00003
|
|
NM_000308.4(CTSA):c.1268G>A (p.Arg423His)
|
rs754739494
|
0.00003
|
|
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser)
|
rs137854547
|
0.00003
|
|
NM_000308.4(CTSA):c.1341C>T (p.Ile447=)
|
rs530181128
|
0.00003
|
|
NM_000308.4(CTSA):c.497del (p.Glu166fs)
|
rs1159382283
|
0.00003
|
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
|
NM_000308.4(CTSA):c.869+20C>T
|
rs765166702
|
0.00003
|
|
NM_000340.2(SLC2A2):c.109-19A>G
|
rs182772346
|
0.00003
|
|
NM_000343.4(SLC5A1):c.*1842C>T
|
rs1039766018
|
0.00003
|
|
NM_000343.4(SLC5A1):c.*451A>G
|
rs200434456
|
0.00003
|
|
NM_000343.4(SLC5A1):c.*771C>T
|
rs550005508
|
0.00003
|
|
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
|
rs751571109
|
0.00003
|
|
NM_000343.4(SLC5A1):c.187C>T (p.Arg63Ter)
|
rs202166715
|
0.00003
|
|
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)
|
rs142249046
|
0.00003
|
|
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)
|
rs767572551
|
0.00003
|
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
|
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn)
|
rs577545383
|
0.00003
|
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
|
NM_000352.6(ABCC8):c.1923+10C>T
|
rs775087598
|
0.00003
|
|
NM_000352.6(ABCC8):c.2163G>C (p.Ser721=)
|
rs201724038
|
0.00003
|
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
|
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
|
rs148342166
|
0.00003
|
|
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)
|
rs765913448
|
0.00003
|
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
|
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)
|
rs149331388
|
0.00003
|
|
NM_000352.6(ABCC8):c.413-15A>G
|
rs758744263
|
0.00003
|
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
|
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
|
rs369810811
|
0.00003
|
|
NM_000352.6(ABCC8):c.4608+10C>T
|
rs754304889
|
0.00003
|
|
NM_000352.6(ABCC8):c.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
|
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)
|
rs757018137
|
0.00003
|
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
|
NM_000365.6(TPI1):c.730A>G (p.Ile244Val)
|
rs143000041
|
0.00003
|
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
|
NM_000404.4(GLB1):c.1009C>T (p.Leu337=)
|
rs376034559
|
0.00003
|
|
NM_000404.4(GLB1):c.1092T>C (p.Pro364=)
|
rs750932808
|
0.00003
|
|
NM_000404.4(GLB1):c.1348-16G>A
|
rs777856183
|
0.00003
|
|
NM_000404.4(GLB1):c.1470C>T (p.Asn490=)
|
rs748007307
|
0.00003
|
|
NM_000404.4(GLB1):c.1480-5T>C
|
rs929129635
|
0.00003
|
|
NM_000404.4(GLB1):c.1767C>T (p.Gly589=)
|
rs373181758
|
0.00003
|
|
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)
|
rs398123351
|
0.00003
|
|
NM_000404.4(GLB1):c.1851C>T (p.Thr617=)
|
rs1257941311
|
0.00003
|
|
NM_000404.4(GLB1):c.1915G>A (p.Val639Met)
|
rs1222326938
|
0.00003
|
|
NM_000404.4(GLB1):c.1959C>T (p.Pro653=)
|
rs1374582666
|
0.00003
|
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
|
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp)
|
rs72555370
|
0.00003
|
|
NM_000404.4(GLB1):c.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
|
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)
|
rs772539129
|
0.00003
|
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
|
NM_000434.4(NEU1):c.*269C>T
|
rs886061288
|
0.00003
|
|
NM_000434.4(NEU1):c.249A>C (p.Thr83=)
|
rs954742285
|
0.00003
|
|
NM_000458.4(HNF1B):c.*88A>G
|
rs762266343
|
0.00003
|
|
NM_000458.4(HNF1B):c.100C>T (p.Leu34=)
|
rs373201245
|
0.00003
|
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
|
NM_000458.4(HNF1B):c.9C>T (p.Ser3=)
|
rs773256244
|
0.00003
|
|
NM_000507.3(FBP1):c.-215G>C
|
rs987543611
|
0.00003
|
|
NM_000507.4(FBP1):c.-18G>T
|
rs1006994685
|
0.00003
|
|
NM_000507.4(FBP1):c.306C>T (p.His102=)
|
rs776366063
|
0.00003
|
|
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg)
|
rs1372801499
|
0.00003
|
|
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
|
rs569127795
|
0.00003
|
|
NM_000512.5(GALNS):c.*610G>T
|
rs755706847
|
0.00003
|
|
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
|
rs769748679
|
0.00003
|
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00003
|
|
NM_000512.5(GALNS):c.1139+19C>T
|
rs777834560
|
0.00003
|
|
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
|
rs2303270
|
0.00003
|
|
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys)
|
rs374798170
|
0.00003
|
|
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp)
|
rs557217245
|
0.00003
|
|
NM_000512.5(GALNS):c.1365-20C>T
|
rs1044328485
|
0.00003
|
|
NM_000512.5(GALNS):c.1374C>T (p.Ser458=)
|
rs534204869
|
0.00003
|
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
|
NM_000512.5(GALNS):c.330G>A (p.Pro110=)
|
rs374355420
|
0.00003
|
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
|
NM_000512.5(GALNS):c.640C>G (p.Leu214Val)
|
rs1424752390
|
0.00003
|
|
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)
|
rs146963745
|
0.00003
|
|
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
|
rs550139020
|
0.00003
|
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
0.00003
|
|
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
|
rs764817769
|
0.00003
|
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
|
NM_000512.5(GALNS):c.885C>T (p.Ser295=)
|
rs766121335
|
0.00003
|
|
NM_000525.4(KCNJ11):c.*311C>T
|
rs886048038
|
0.00003
|
|
NM_000525.4(KCNJ11):c.*849C>G
|
rs1272490539
|
0.00003
|
|
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)
|
rs114215135
|
0.00003
|
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00003
|
|
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)
|
rs1233061680
|
0.00003
|
|
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)
|
rs770609243
|
0.00003
|
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
|
NM_000525.4(KCNJ11):c.579C>T (p.His193=)
|
rs762089425
|
0.00003
|
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
|
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=)
|
rs139445409
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1022C>T (p.Ala341Val)
|
rs574049175
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=)
|
rs375898929
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1230+5G>T
|
rs1398531876
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp)
|
rs533428309
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)
|
rs762375401
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
|
rs764543590
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
|
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu)
|
rs145163643
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1818C>T (p.Thr606=)
|
rs746035776
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1831-11T>C
|
rs1030378548
|
0.00003
|
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2034C>A (p.Ile678=)
|
rs546913005
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
|
rs776158673
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2253G>A (p.Glu751=)
|
rs781197939
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2270G>A (p.Arg757Gln)
|
rs772264672
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2355+6T>A
|
rs1052970162
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
|
rs1466468362
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2664+1G>A
|
rs771953225
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met)
|
rs771210668
|
0.00003
|
|
NM_000528.4(MAN2B1):c.2946G>A (p.Pro982=)
|
rs192184706
|
0.00003
|
|
NM_000528.4(MAN2B1):c.322T>C (p.Leu108=)
|
rs766694689
|
0.00003
|
|
NM_000528.4(MAN2B1):c.631-19T>C
|
rs1335847495
|
0.00003
|
|
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser)
|
rs944317989
|
0.00003
|
|
NM_000528.4(MAN2B1):c.840G>A (p.Glu280=)
|
rs764312812
|
0.00003
|
|
NM_000528.4(MAN2B1):c.921C>T (p.Tyr307=)
|
rs35087690
|
0.00003
|
|
NM_000528.4(MAN2B1):c.953C>T (p.Ser318Leu)
|
rs774034389
|
0.00003
|
|
NM_000545.8(HNF1A):c.-6C>T
|
rs779387337
|
0.00003
|
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
|
NM_000545.8(HNF1A):c.30G>A (p.Thr10=)
|
rs746020457
|
0.00003
|
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
|
NM_000545.8(HNF1A):c.900C>T (p.Pro300=)
|
rs762555237
|
0.00003
|
|
NM_000642.3(AGL):c.*1256A>C
|
rs886044932
|
0.00003
|
|
NM_000642.3(AGL):c.*1359A>G
|
rs919030085
|
0.00003
|
|
NM_000642.3(AGL):c.*794A>G
|
rs886044929
|
0.00003
|
|
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
|
rs544658310
|
0.00003
|
|
NM_000642.3(AGL):c.1614C>G (p.Tyr538Ter)
|
rs1188310172
|
0.00003
|
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
|
NM_000642.3(AGL):c.1736-7T>C
|
rs1224630568
|
0.00003
|
|
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
|
rs145517369
|
0.00003
|
|
NM_000642.3(AGL):c.1936A>G (p.Ile646Val)
|
rs376666809
|
0.00003
|
|
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln)
|
rs752995564
|
0.00003
|
|
NM_000642.3(AGL):c.2034T>C (p.Thr678=)
|
rs1440427781
|
0.00003
|
|
NM_000642.3(AGL):c.2069G>T (p.Gly690Val)
|
rs749075109
|
0.00003
|
|
NM_000642.3(AGL):c.224A>G (p.Asp75Gly)
|
rs142368729
|
0.00003
|
|
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly)
|
rs778492877
|
0.00003
|
|
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln)
|
rs752153469
|
0.00003
|
|
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr)
|
rs773083396
|
0.00003
|
|
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly)
|
rs867149434
|
0.00003
|
|
NM_000642.3(AGL):c.2681+1G>A
|
rs201201443
|
0.00003
|
|
NM_000642.3(AGL):c.2814T>G (p.Gly938=)
|
rs147590282
|
0.00003
|
|
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly)
|
rs1447342458
|
0.00003
|
|
NM_000642.3(AGL):c.294A>G (p.Gly98=)
|
rs746550765
|
0.00003
|
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
|
NM_000642.3(AGL):c.30A>T (p.Leu10Phe)
|
rs746137555
|
0.00003
|
|
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr)
|
rs147375385
|
0.00003
|
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
|
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys)
|
rs773625464
|
0.00003
|
|
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
|
rs867496787
|
0.00003
|
|
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)
|
rs769812980
|
0.00003
|
|
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile)
|
rs758562610
|
0.00003
|
|
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr)
|
rs777686689
|
0.00003
|
|
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter)
|
rs771853367
|
0.00003
|
|
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)
|
rs749118487
|
0.00003
|
|
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00003
|
|
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys)
|
rs886042149
|
0.00003
|
|
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser)
|
rs150532164
|
0.00003
|
|
NM_000642.3(AGL):c.4413G>A (p.Pro1471=)
|
rs1049817296
|
0.00003
|
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
|
NM_000642.3(AGL):c.669T>C (p.Ala223=)
|
rs764000104
|
0.00003
|
|
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
|
rs370391954
|
0.00003
|
|
NM_000642.3(AGL):c.87T>C (p.Tyr29=)
|
rs768278283
|
0.00003
|
|
NM_000642.3(AGL):c.959-3T>A
|
rs374766709
|
0.00003
|
|
NM_000891.3(KCNJ2):c.*122G>A
|
rs886053324
|
0.00003
|
|
NM_000891.3(KCNJ2):c.*124G>A
|
rs886053325
|
0.00003
|
|
NM_000891.3(KCNJ2):c.*2698T>C
|
rs368668294
|
0.00003
|
|
NM_000891.3(KCNJ2):c.*3032A>G
|
rs548485707
|
0.00003
|
|
NM_000891.3(KCNJ2):c.-348G>A
|
rs993406508
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)
|
rs759070406
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=)
|
rs1279223538
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1227C>T (p.His409=)
|
rs933444870
|
0.00003
|
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
|
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=)
|
rs192172778
|
0.00003
|
|
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His)
|
rs140090605
|
0.00003
|
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
|
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)
|
rs573888708
|
0.00003
|
|
NM_000925.4(PDHB):c.*360A>G
|
rs886058776
|
0.00003
|
|
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
|
rs747573712
|
0.00003
|
|
NM_000925.4(PDHB):c.42+16C>T
|
rs764495667
|
0.00003
|
|
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)
|
rs752056463
|
0.00003
|
|
NM_000925.4(PDHB):c.81G>A (p.Ala27=)
|
rs745487481
|
0.00003
|
|
NM_000925.4(PDHB):c.96+14G>C
|
rs774007894
|
0.00003
|
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
|
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg)
|
rs747453873
|
0.00003
|
|
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)
|
rs780393850
|
0.00003
|
|
NM_001008216.2(GALE):c.924C>T (p.Tyr308=)
|
rs377444727
|
0.00003
|
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
|
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)
|
rs771451811
|
0.00003
|
|
NM_001040716.2(PC):c.-272G>A
|
rs927187081
|
0.00003
|
|
NM_001040716.2(PC):c.1020C>G (p.Thr340=)
|
rs201344655
|
0.00003
|
|
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser)
|
rs908978048
|
0.00003
|
|
NM_001040716.2(PC):c.1519G>A (p.Val507Ile)
|
rs555210692
|
0.00003
|
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
|
NM_001040716.2(PC):c.1581C>T (p.Pro527=)
|
rs570919766
|
0.00003
|
|
NM_001040716.2(PC):c.1770C>T (p.Ile590=)
|
rs199923862
|
0.00003
|
|
NM_001040716.2(PC):c.1902C>T (p.Ile634=)
|
rs756874373
|
0.00003
|
|
NM_001040716.2(PC):c.2076G>A (p.Ala692=)
|
rs753064456
|
0.00003
|
|
NM_001040716.2(PC):c.2124C>T (p.Gly708=)
|
rs200488501
|
0.00003
|
|
NM_001040716.2(PC):c.2128G>A (p.Val710Met)
|
rs749176333
|
0.00003
|
|
NM_001040716.2(PC):c.2133C>T (p.Ala711=)
|
rs201327739
|
0.00003
|
|
NM_001040716.2(PC):c.2224-4C>T
|
rs750993796
|
0.00003
|
|
NM_001040716.2(PC):c.2247C>T (p.Pro749=)
|
rs776576677
|
0.00003
|
|
NM_001040716.2(PC):c.264C>T (p.Arg88=)
|
rs757830976
|
0.00003
|
|
NM_001040716.2(PC):c.2703G>A (p.Leu901=)
|
rs187166676
|
0.00003
|
|
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn)
|
rs747786536
|
0.00003
|
|
NM_001040716.2(PC):c.3336C>T (p.Ile1112=)
|
rs776196411
|
0.00003
|
|
NM_001040716.2(PC):c.3396C>G (p.Ala1132=)
|
rs553914941
|
0.00003
|
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
|
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn)
|
rs568925019
|
0.00003
|
|
NM_001040716.2(PC):c.440G>A (p.Arg147His)
|
rs748987495
|
0.00003
|
|
NM_001040716.2(PC):c.752-5C>T
|
rs770994083
|
0.00003
|
|
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
|
rs773369359
|
0.00003
|
|
NM_001041.4(SI):c.1-15C>A
|
rs201424057
|
0.00003
|
|
NM_001041.4(SI):c.1715+8C>A
|
rs373673328
|
0.00003
|
|
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)
|
rs201583834
|
0.00003
|
|
NM_001041.4(SI):c.1995C>T (p.Asp665=)
|
rs757380218
|
0.00003
|
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
|
NM_001041.4(SI):c.2966G>A (p.Arg989His)
|
rs757155810
|
0.00003
|
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00003
|
|
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)
|
rs768100667
|
0.00003
|
|
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
|
rs202077921
|
0.00003
|
|
NM_001041.4(SI):c.375A>G (p.Gly125=)
|
rs960922254
|
0.00003
|
|
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)
|
rs779805310
|
0.00003
|
|
NM_001041.4(SI):c.4062+11C>T
|
rs747768310
|
0.00003
|
|
NM_001041.4(SI):c.417T>G (p.Phe139Leu)
|
rs758407768
|
0.00003
|
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
|
NM_001041.4(SI):c.453A>G (p.Gln151=)
|
rs374104171
|
0.00003
|
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
|
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)
|
rs535971512
|
0.00003
|
|
NM_001041.4(SI):c.780T>G (p.Ile260Met)
|
rs758621325
|
0.00003
|
|
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys)
|
rs778423082
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu)
|
rs143323381
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys)
|
rs913893905
|
0.00003
|
|
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln)
|
rs545480303
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.-535G>C
|
rs138523194
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)
|
rs373540523
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=)
|
rs1310970870
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=)
|
rs782713974
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.381+15A>G
|
rs1057520372
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=)
|
rs752687782
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=)
|
rs1470803048
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=)
|
rs781864019
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)
|
rs886042302
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.986-18C>T
|
rs374784735
|
0.00003
|
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00003
|
|
NM_001243177.4(ALDOA):c.945G>C (p.Val315=)
|
rs780658545
|
0.00003
|
|
NM_001271838.2(RSRC1):c.205C>T (p.Arg69Ter)
|
rs868818936
|
0.00003
|
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
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.206A>G (p.Asp69Gly)
|
rs886057080
|
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_001360016.2(G6PD):c.*599C>T
|
rs921086000
|
0.00003
|
|
NM_001360016.2(G6PD):c.1023C>T (p.Val341=)
|
rs201321423
|
0.00003
|
|
NM_001360016.2(G6PD):c.1051+11C>G
|
rs1258960910
|
0.00003
|
|
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=)
|
rs368898047
|
0.00003
|
|
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=)
|
rs782432107
|
0.00003
|
|
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=)
|
rs370808115
|
0.00003
|
|
NM_001360016.2(G6PD):c.1365-7C>T
|
rs1168711308
|
0.00003
|
|
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=)
|
rs1230419397
|
0.00003
|
|
NM_001360016.2(G6PD):c.158+13C>T
|
rs990745079
|
0.00003
|
|
NM_001360016.2(G6PD):c.644+20G>A
|
rs782108377
|
0.00003
|
|
NM_001360016.2(G6PD):c.645-7C>T
|
rs782468778
|
0.00003
|
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
|
NM_001360016.2(G6PD):c.864+5G>A
|
rs372876649
|
0.00003
|
|
NM_001365304.2(LOC112694756):c.*834-9C>T
|
rs1057523259
|
0.00003
|
|
NM_001366110.1(PAX4):c.14-101C>T
|
rs886061970
|
0.00003
|
|
NM_001366110.1(PAX4):c.14-176C>A
|
rs754931916
|
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.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
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_001715.2(BLK):c.-531C>T
|
rs538706235
|
0.00003
|
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
|
NM_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00003
|
|
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
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_001931.5(DLAT):c.1678-7C>T
|
rs781917992
|
0.00003
|
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
|
NM_001931.5(DLAT):c.991C>G (p.Pro331Ala)
|
rs78320677
|
0.00003
|
|
NM_002076.4(GNS):c.*2032T>A
|
rs886049763
|
0.00003
|
|
NM_002076.4(GNS):c.*2560T>G
|
rs886049762
|
0.00003
|
|
NM_002076.4(GNS):c.*2625G>A
|
rs1468841522
|
0.00003
|
|
NM_002076.4(GNS):c.*2783C>T
|
rs573404754
|
0.00003
|
|
NM_002076.4(GNS):c.*425G>A
|
rs141736156
|
0.00003
|
|
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)
|
rs138335335
|
0.00003
|
|
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu)
|
rs755021062
|
0.00003
|
|
NM_002076.4(GNS):c.1308+2T>C
|
rs750645480
|
0.00003
|
|
NM_002076.4(GNS):c.676T>G (p.Phe226Val)
|
rs1283873163
|
0.00003
|
|
NM_002076.4(GNS):c.708G>A (p.Ser236=)
|
rs775884527
|
0.00003
|
|
NM_002076.4(GNS):c.792+12C>T
|
rs749901174
|
0.00003
|
|
NM_002103.5(GYS1):c.*611C>T
|
rs370792196
|
0.00003
|
|
NM_002103.5(GYS1):c.-171A>T
|
rs766268073
|
0.00003
|
|
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe)
|
rs761016746
|
0.00003
|
|
NM_002103.5(GYS1):c.1077G>A (p.Glu359=)
|
rs756998086
|
0.00003
|
|
NM_002103.5(GYS1):c.1102A>G (p.Met368Val)
|
rs1239694022
|
0.00003
|
|
NM_002103.5(GYS1):c.1128C>T (p.Asn376=)
|
rs763282805
|
0.00003
|
|
NM_002103.5(GYS1):c.1169+14G>A
|
rs772135585
|
0.00003
|
|
NM_002103.5(GYS1):c.119-2_120del
|
rs1422043936
|
0.00003
|
|
NM_002103.5(GYS1):c.152C>T (p.Ala51Val)
|
rs780821674
|
0.00003
|
|
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
|
rs781563966
|
0.00003
|
|
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)
|
rs147627546
|
0.00003
|
|
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
|
rs1375243403
|
0.00003
|
|
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
|
rs776737199
|
0.00003
|
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
|
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
|
rs1045006240
|
0.00003
|
|
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu)
|
rs1199465827
|
0.00003
|
|
NM_002103.5(GYS1):c.678C>T (p.Asn226=)
|
rs760384808
|
0.00003
|
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
|
NM_002103.5(GYS1):c.984C>T (p.Ile328=)
|
rs769000809
|
0.00003
|
|
NM_002294.3(LAMP2):c.*2147T>C
|
rs1314194515
|
0.00003
|
|
NM_002294.3(LAMP2):c.*4858A>G
|
rs943561186
|
0.00003
|
|
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
|
rs766962315
|
0.00003
|
|
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=)
|
rs1334549485
|
0.00003
|
|
NM_002294.3(LAMP2):c.1094-16C>T
|
rs772976829
|
0.00003
|
|
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile)
|
rs1006753991
|
0.00003
|
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
|
NM_002294.3(LAMP2):c.276C>T (p.Phe92=)
|
rs754577706
|
0.00003
|
|
NM_002294.3(LAMP2):c.300G>A (p.Ala100=)
|
rs765548221
|
0.00003
|
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
|
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala)
|
rs138374063
|
0.00003
|
|
NM_002294.3(LAMP2):c.519A>G (p.Val173=)
|
rs1060504543
|
0.00003
|
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
|
NM_002294.3(LAMP2):c.64+20C>G
|
rs1346805727
|
0.00003
|
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
|
NM_002294.3(LAMP2):c.65-20A>T
|
rs773064698
|
0.00003
|
|
NM_002294.3(LAMP2):c.750A>C (p.Ser250=)
|
rs765836082
|
0.00003
|
|
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn)
|
rs1341268966
|
0.00003
|
|
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu)
|
rs886054867
|
0.00003
|
|
NM_002299.4(LCT):c.3450C>T (p.Ser1150=)
|
rs777067647
|
0.00003
|
|
NM_002299.4(LCT):c.5335+5G>A
|
rs747065034
|
0.00003
|
|
NM_002299.4(LCT):c.5391T>C (p.Asn1797=)
|
rs145827881
|
0.00003
|
|
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=)
|
rs369410973
|
0.00003
|
|
NM_002299.4(LCT):c.725C>T (p.Thr242Met)
|
rs757179373
|
0.00003
|
|
NM_002299.4(LCT):c.89C>T (p.Ser30Phe)
|
rs368308800
|
0.00003
|
|
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys)
|
rs369382991
|
0.00003
|
|
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)
|
rs754458532
|
0.00003
|
|
NM_002591.4(PCK1):c.*392T>C
|
rs111775670
|
0.00003
|
|
NM_002591.4(PCK1):c.-64C>T
|
rs886056793
|
0.00003
|
|
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)
|
rs768176085
|
0.00003
|
|
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg)
|
rs373906233
|
0.00003
|
|
NM_002591.4(PCK1):c.903C>T (p.Pro301=)
|
rs779245706
|
0.00003
|
|
NM_002637.4(PHKA1):c.*2110A>G
|
rs1380630404
|
0.00003
|
|
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile)
|
rs369136290
|
0.00003
|
|
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val)
|
rs1556276769
|
0.00003
|
|
NM_002637.4(PHKA1):c.2403A>G (p.Glu801=)
|
rs782389254
|
0.00003
|
|
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln)
|
rs370717042
|
0.00003
|
|
NM_002637.4(PHKA1):c.2578C>T (p.Pro860Ser)
|
rs781963831
|
0.00003
|
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
|
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter)
|
rs137852546
|
0.00003
|
|
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
|
rs782546754
|
0.00003
|
|
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg)
|
rs782068991
|
0.00003
|
|
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met)
|
rs1025423127
|
0.00003
|
|
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=)
|
rs782257959
|
0.00003
|
|
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val)
|
rs782285281
|
0.00003
|
|
NM_002863.5(PYGL):c.1598G>A (p.Arg533Gln)
|
rs778002035
|
0.00003
|
|
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)
|
rs113993984
|
0.00003
|
|
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)
|
rs368758632
|
0.00003
|
|
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His)
|
rs113993988
|
0.00003
|
|
NM_002863.5(PYGL):c.369A>G (p.Leu123=)
|
rs778625321
|
0.00003
|
|
NM_002863.5(PYGL):c.772+14A>G
|
rs370866175
|
0.00003
|
|
NM_002863.5(PYGL):c.772+1G>A
|
rs776545903
|
0.00003
|
|
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln)
|
rs375172368
|
0.00003
|
|
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val)
|
rs199521654
|
0.00003
|
|
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)
|
rs564249983
|
0.00003
|
|
NM_003051.3(SLC16A1):c.-324T>G
|
rs1019615427
|
0.00003
|
|
NM_003051.4(SLC16A1):c.*1312G>C
|
rs886045059
|
0.00003
|
|
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)
|
rs200802632
|
0.00003
|
|
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)
|
rs773196238
|
0.00003
|
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
|
NM_003384.3(VRK1):c.577-19G>C
|
rs781055432
|
0.00003
|
|
NM_003384.3(VRK1):c.882C>T (p.Asn294=)
|
rs541660707
|
0.00003
|
|
NM_003477.2(PDHX):c.-197delT
|
rs1158194122
|
0.00003
|
|
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)
|
rs200866298
|
0.00003
|
|
NM_003597.5(KLF11):c.-159G>A
|
rs1445533585
|
0.00003
|
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
0.00003
|
|
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)
|
rs1553312826
|
0.00003
|
|
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)
|
rs576350323
|
0.00003
|
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00003
|
|
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
|
NM_003619.4(PRSS12):c.1837+1G>A
|
rs201470712
|
0.00003
|
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00003
|
|
NM_003619.4(PRSS12):c.2088T>C (p.His696=)
|
rs141365421
|
0.00003
|
|
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs)
|
rs757141803
|
0.00003
|
|
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter)
|
rs1205071832
|
0.00003
|
|
NM_003805.5(CRADD):c.491T>G (p.Phe164Cys)
|
rs370916968
|
0.00003
|
|
NM_003805.5(CRADD):c.503G>A (p.Arg168Gln)
|
rs563879626
|
0.00003
|
|
NM_004130.4(GYG1):c.46G>A (p.Ala16Thr)
|
rs200947378
|
0.00003
|
|
NM_004130.4(GYG1):c.609-14C>T
|
rs199593097
|
0.00003
|
|
NM_004130.4(GYG1):c.716A>C (p.Asn239Thr)
|
rs759134229
|
0.00003
|
|
NM_004830.4(MED23):c.2417T>C (p.Ile806Thr)
|
rs1416942996
|
0.00003
|
|
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)
|
rs755207439
|
0.00003
|
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
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_005566.4(LDHA):c.137A>T (p.Asp46Val)
|
rs201460924
|
0.00003
|
|
NM_005609.4(PYGM):c.1093-9G>C
|
rs571244371
|
0.00003
|
|
NM_005609.4(PYGM):c.1176C>T (p.Leu392=)
|
rs374770169
|
0.00003
|
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
|
NM_005609.4(PYGM):c.1362C>T (p.Asn454=)
|
rs375294505
|
0.00003
|
|
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser)
|
rs200101718
|
0.00003
|
|
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly)
|
rs775496411
|
0.00003
|
|
NM_005609.4(PYGM):c.1668C>G (p.Val556=)
|
rs771619843
|
0.00003
|
|
NM_005609.4(PYGM):c.1769-6C>T
|
rs1404563963
|
0.00003
|
|
NM_005609.4(PYGM):c.2052C>T (p.Leu684=)
|
rs753017949
|
0.00003
|
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
|
NM_005609.4(PYGM):c.2367C>T (p.Ser789=)
|
rs750356895
|
0.00003
|
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
|
NM_005609.4(PYGM):c.411G>A (p.Leu137=)
|
rs746345515
|
0.00003
|
|
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
|
rs747495987
|
0.00003
|
|
NM_005609.4(PYGM):c.60C>T (p.Ala20=)
|
rs770037071
|
0.00003
|
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
|
NM_005609.4(PYGM):c.661-4G>A
|
rs200126118
|
0.00003
|
|
NM_005609.4(PYGM):c.681C>T (p.Tyr227=)
|
rs377503100
|
0.00003
|
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00003
|
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
|
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu)
|
rs758643729
|
0.00003
|
|
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)
|
rs376012848
|
0.00003
|
|
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe)
|
rs139936532
|
0.00003
|
|
NM_006488.3(KHK):c.*200A>G
|
rs751205514
|
0.00003
|
|
NM_006516.2(SLC2A1):c.-384G>A
|
rs886046345
|
0.00003
|
|
NM_006516.4(SLC2A1):c.*1149C>A
|
rs779668330
|
0.00003
|
|
NM_006516.4(SLC2A1):c.*1246G>A
|
rs886046330
|
0.00003
|
|
NM_006516.4(SLC2A1):c.*1281A>G
|
rs1057515458
|
0.00003
|
|
NM_006516.4(SLC2A1):c.*322T>G
|
rs886046340
|
0.00003
|
|
NM_006516.4(SLC2A1):c.*597G>A
|
rs886046338
|
0.00003
|
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
|
NM_006516.4(SLC2A1):c.339G>A (p.Ser113=)
|
rs755571737
|
0.00003
|
|
NM_006516.4(SLC2A1):c.624C>G (p.Pro208=)
|
rs778522408
|
0.00003
|
|
NM_006721.4(ADK):c.259A>G (p.Ile87Val)
|
rs201734294
|
0.00003
|
|
NM_006755.2(TALDO1):c.*33C>T
|
rs375388046
|
0.00003
|
|
NM_006755.2(TALDO1):c.462-4G>A
|
rs532763032
|
0.00003
|
|
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)
|
rs151052416
|
0.00003
|
|
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)
|
rs765872752
|
0.00003
|
|
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)
|
rs375231328
|
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_012203.2(GRHPR):c.215-13_215-7del
|
rs780759944
|
0.00003
|
|
NM_012203.2(GRHPR):c.252C>A (p.Gly84=)
|
rs139595138
|
0.00003
|
|
NM_012203.2(GRHPR):c.554G>A (p.Arg185His)
|
rs1327662246
|
0.00003
|
|
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)
|
rs750954346
|
0.00003
|
|
NM_012203.2(GRHPR):c.905G>A (p.Arg302His)
|
rs180177323
|
0.00003
|
|
NM_012434.5(SLC17A5):c.-86A>T
|
rs886061737
|
0.00003
|
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
|
NM_012434.5(SLC17A5):c.297G>A (p.Lys99=)
|
rs755101287
|
0.00003
|
|
NM_012434.5(SLC17A5):c.56G>A (p.Arg19His)
|
rs772365253
|
0.00003
|
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
|
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)
|
rs151074136
|
0.00003
|
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
|
NM_016203.4(PRKAG2):c.-397G>C
|
rs886062106
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1399+15C>T
|
rs374582991
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
|
NM_016203.4(PRKAG2):c.1679-10C>T
|
rs201826453
|
0.00003
|
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
|
NM_016203.4(PRKAG2):c.318C>T (p.Phe106=)
|
rs373277092
|
0.00003
|
|
NM_016203.4(PRKAG2):c.342G>A (p.Pro114=)
|
rs147365679
|
0.00003
|
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
|
NM_016203.4(PRKAG2):c.591C>T (p.Pro197=)
|
rs587781126
|
0.00003
|
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
|
NM_016203.4(PRKAG2):c.864+13C>T
|
rs727505238
|
0.00003
|
|
NM_016203.4(PRKAG2):c.945A>G (p.Val315=)
|
rs759393540
|
0.00003
|
|
NM_016219.5(MAN1B1):c.*62A>G
|
rs963031485
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=)
|
rs373672617
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)
|
rs763074368
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=)
|
rs201933207
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
|
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln)
|
rs368503703
|
0.00003
|
|
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys)
|
rs748988185
|
0.00003
|
|
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln)
|
rs765008747
|
0.00003
|
|
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=)
|
rs536127999
|
0.00003
|
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
|
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn)
|
rs376305905
|
0.00003
|
|
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys)
|
rs541404259
|
0.00003
|
|
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)
|
rs576457697
|
0.00003
|
|
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn)
|
rs779298195
|
0.00003
|
|
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr)
|
rs766301739
|
0.00003
|
|
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)
|
rs140003855
|
0.00003
|
|
NM_017755.6(NSUN2):c.914G>A (p.Arg305His)
|
rs368030963
|
0.00003
|
|
NM_018255.4(ELP2):c.1657C>T (p.Gln553Ter)
|
rs1400164869
|
0.00003
|
|
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)
|
rs374645146
|
0.00003
|
|
NM_020897.3(HCN3):c.*1004C>T
|
rs937795186
|
0.00003
|
|
NM_021957.4(GYS2):c.*406T>G
|
rs886445298
|
0.00003
|
|
NM_021957.4(GYS2):c.1129G>A (p.Val377Met)
|
rs199855783
|
0.00003
|
|
NM_021957.4(GYS2):c.1384C>A (p.Arg462=)
|
rs1377248525
|
0.00003
|
|
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro)
|
rs199936257
|
0.00003
|
|
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys)
|
rs369069984
|
0.00003
|
|
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)
|
rs202136674
|
0.00003
|
|
NM_021957.4(GYS2):c.495+14T>C
|
rs113287204
|
0.00003
|
|
NM_021957.4(GYS2):c.525C>T (p.Val175=)
|
rs77486019
|
0.00003
|
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
|
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys)
|
rs768020573
|
0.00003
|
|
NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)
|
rs387907483
|
0.00003
|
|
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)
|
rs35878526
|
0.00003
|
|
NM_024735.5(FBXO31):c.996+4A>G
|
rs765703905
|
0.00003
|
|
NM_024824.5(ZC3H14):c.1280-1856A>G
|
rs538186371
|
0.00003
|
|
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=)
|
rs766852236
|
0.00003
|
|
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met)
|
rs777153886
|
0.00003
|
|
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
|
rs201002323
|
0.00003
|
|
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)
|
rs771805552
|
0.00003
|
|
NM_024989.4(PGAP1):c.2421C>T (p.Asn807=)
|
rs145600035
|
0.00003
|
|
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)
|
rs774987863
|
0.00003
|
|
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val)
|
rs1232409954
|
0.00003
|
|
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp)
|
rs764244683
|
0.00003
|
|
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln)
|
rs754890674
|
0.00003
|
|
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg)
|
rs371077650
|
0.00003
|
|
NM_031229.4(RBCK1):c.1380C>T (p.Cys460=)
|
rs377305490
|
0.00003
|
|
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
|
rs759833242
|
0.00003
|
|
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
|
rs568820415
|
0.00003
|
|
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile)
|
rs372591105
|
0.00003
|
|
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg)
|
rs772796019
|
0.00003
|
|
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met)
|
rs766841580
|
0.00003
|
|
NM_031229.4(RBCK1):c.63C>T (p.Gly21=)
|
rs749576109
|
0.00003
|
|
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)
|
rs546711324
|
0.00003
|
|
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu)
|
rs746724862
|
0.00003
|
|
NM_031229.4(RBCK1):c.855C>T (p.Cys285=)
|
rs776856644
|
0.00003
|
|
NM_031229.4(RBCK1):c.861G>A (p.Ser287=)
|
rs1053428615
|
0.00003
|
|
NM_031229.4(RBCK1):c.917+9C>T
|
rs752577528
|
0.00003
|
|
NM_032808.7(LINGO1):c.869G>A (p.Arg290His)
|
rs757077698
|
0.00003
|
|
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys)
|
rs782450263
|
0.00003
|
|
NM_033159.4(HYAL1):c.1146T>C (p.Leu382=)
|
rs1259207908
|
0.00003
|
|
NM_033159.4(HYAL1):c.201C>T (p.Arg67=)
|
rs781862008
|
0.00003
|
|
NM_033159.4(HYAL1):c.321C>G (p.Ala107=)
|
rs374789186
|
0.00003
|
|
NM_033159.4(HYAL1):c.588C>T (p.Arg196=)
|
rs782601965
|
0.00003
|
|
NM_033159.4(HYAL1):c.618C>T (p.Asp206=)
|
rs782079716
|
0.00003
|
|
NM_033159.4(HYAL1):c.771G>A (p.Lys257=)
|
rs781943397
|
0.00003
|
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
|
NM_053013.4(ENO3):c.1089T>C (p.Asn363=)
|
rs533687145
|
0.00003
|
|
NM_053013.4(ENO3):c.1176+7G>A
|
rs780236325
|
0.00003
|
|
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)
|
rs763327091
|
0.00003
|
|
NM_053013.4(ENO3):c.927G>A (p.Ser309=)
|
rs142501820
|
0.00003
|
|
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala)
|
rs776292240
|
0.00003
|
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
0.00003
|
|
NM_138413.4(HOGA1):c.909C>T (p.Arg303=)
|
rs764469579
|
0.00003
|
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
|
NM_144563.3(RPIA):c.*591G>T
|
rs925199328
|
0.00003
|
|
NM_144563.3(RPIA):c.*712T>C
|
rs886056425
|
0.00003
|
|
NM_144563.3(RPIA):c.596+5A>C
|
rs200342264
|
0.00003
|
|
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu)
|
rs773672318
|
0.00003
|
|
NM_152419.3(HGSNAT):c.*1137C>T
|
rs142422330
|
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_175914.5(HNF4A):c.*1616G>A
|
rs886056685
|
0.00003
|
|
NM_175914.5(HNF4A):c.*168G>T
|
rs1045382698
|
0.00003
|
|
NM_175914.5(HNF4A):c.*2779A>C
|
rs755438203
|
0.00003
|
|
NM_175914.5(HNF4A):c.*572C>A
|
rs761017274
|
0.00003
|
|
NM_175914.5(HNF4A):c.1017C>T (p.Phe339=)
|
rs142268325
|
0.00003
|
|
NM_175914.5(HNF4A):c.1064-18G>A
|
rs773235761
|
0.00003
|
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
|
NM_175914.5(HNF4A):c.1216+6C>A
|
rs778818487
|
0.00003
|
|
NM_175914.5(HNF4A):c.126G>C (p.Gly42=)
|
rs781364773
|
0.00003
|
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
|
NM_175914.5(HNF4A):c.319+10G>A
|
rs375708199
|
0.00003
|
|
NM_175914.5(HNF4A):c.396G>A (p.Ala132=)
|
rs370329321
|
0.00003
|
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
|
NM_175914.5(HNF4A):c.826+79C>T
|
rs773386088
|
0.00003
|
|
NM_175914.5(HNF4A):c.924G>T (p.Ser308=)
|
rs140146223
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1017T>C (p.Ser339=)
|
rs747655441
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)
|
rs765443391
|
0.00003
|
|
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)
|
rs1275828844
|
0.00003
|
|
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln)
|
rs759908693
|
0.00003
|
|
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr)
|
rs570505924
|
0.00003
|
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
|
NM_198586.3(NHLRC1):c.855G>C (p.Leu285=)
|
rs375475285
|
0.00003
|
|
NM_000027.4(AGA):c.129G>A (p.Ala43=)
|
rs780842670
|
0.00002
|
|
NM_000027.4(AGA):c.171G>A (p.Val57=)
|
rs750795098
|
0.00002
|
|
NM_000027.4(AGA):c.210C>T (p.Asp70=)
|
rs762870187
|
0.00002
|
|
NM_000027.4(AGA):c.27G>T (p.Val9=)
|
rs764924616
|
0.00002
|
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
|
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
|
rs761243441
|
0.00002
|
|
NM_000027.4(AGA):c.698+10T>C
|
rs756908895
|
0.00002
|
|
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
|
rs758804988
|
0.00002
|
|
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
|
rs774051527
|
0.00002
|
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
|
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
|
rs377173333
|
0.00002
|
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
|
NM_000035.4(ALDOB):c.465C>T (p.Ala155=)
|
rs569981883
|
0.00002
|
|
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
|
rs770158282
|
0.00002
|
|
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
|
rs376978142
|
0.00002
|
|
NM_000035.4(ALDOB):c.780T>C (p.Thr260=)
|
rs965153604
|
0.00002
|
|
NM_000035.4(ALDOB):c.800-2A>C
|
rs199965465
|
0.00002
|
|
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
|
rs555935217
|
0.00002
|
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
|
NM_000035.4(ALDOB):c.966G>A (p.Glu322=)
|
rs149166711
|
0.00002
|
|
NM_000046.5(ARSB):c.*2164T>A
|
rs950647700
|
0.00002
|
|
NM_000046.5(ARSB):c.*2526T>A
|
rs1174387311
|
0.00002
|
|
NM_000046.5(ARSB):c.*3163T>C
|
rs886060778
|
0.00002
|
|
NM_000046.5(ARSB):c.*618C>T
|
rs757857543
|
0.00002
|
|
NM_000046.5(ARSB):c.*990C>T
|
rs886060793
|
0.00002
|
|
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
|
rs780432111
|
0.00002
|
|
NM_000046.5(ARSB):c.1143-1G>C
|
rs431905495
|
0.00002
|
|
NM_000046.5(ARSB):c.1198G>T (p.Val400Leu)
|
rs570630772
|
0.00002
|
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
|
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr)
|
rs886060797
|
0.00002
|
|
NM_000046.5(ARSB):c.1296A>T (p.Ala432=)
|
rs1471453713
|
0.00002
|
|
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr)
|
rs748137130
|
0.00002
|
|
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
|
rs778250810
|
0.00002
|
|
NM_000046.5(ARSB):c.1480A>G (p.Ile494Val)
|
rs140415504
|
0.00002
|
|
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)
|
rs1179935748
|
0.00002
|
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
|
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter)
|
rs1255777033
|
0.00002
|
|
NM_000046.5(ARSB):c.76C>T (p.Leu26=)
|
rs1220314595
|
0.00002
|
|
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
|
rs932761237
|
0.00002
|
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
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.226C>T (p.Leu76Phe)
|
rs967089304
|
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.677T>C (p.Val226Ala)
|
rs750449027
|
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_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
|
NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)
|
rs118204450
|
0.00002
|
|
NM_000147.5(FUCA1):c.1347C>A (p.Pro449=)
|
rs750761317
|
0.00002
|
|
NM_000147.5(FUCA1):c.438G>A (p.Pro146=)
|
rs766878135
|
0.00002
|
|
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
|
rs149540896
|
0.00002
|
|
NM_000147.5(FUCA1):c.662+8A>G
|
rs371032301
|
0.00002
|
|
NM_000147.5(FUCA1):c.6G>A (p.Arg2=)
|
rs1431712214
|
0.00002
|
|
NM_000151.4(G6PC1):c.*1311G>A
|
rs1395262885
|
0.00002
|
|
NM_000151.4(G6PC1):c.1068G>A (p.Ser356=)
|
rs776022311
|
0.00002
|
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
|
NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)
|
rs759982943
|
0.00002
|
|
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu)
|
rs1470923557
|
0.00002
|
|
NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln)
|
rs750470654
|
0.00002
|
|
NM_000151.4(G6PC1):c.533C>T (p.Pro178Leu)
|
rs768803329
|
0.00002
|
|
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
|
rs766230068
|
0.00002
|
|
NM_000151.4(G6PC1):c.563-6A>G
|
rs2056090751
|
0.00002
|
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
|
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
|
rs766886771
|
0.00002
|
|
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val)
|
rs80356483
|
0.00002
|
|
NM_000151.4(G6PC1):c.821C>T (p.Ala274Val)
|
rs774212157
|
0.00002
|
|
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile)
|
rs774448424
|
0.00002
|
|
NM_000151.4(G6PC1):c.960G>T (p.Leu320=)
|
rs531727073
|
0.00002
|
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
|
NM_000152.5(GAA):c.1083G>A (p.Pro361=)
|
rs781379047
|
0.00002
|
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
|
NM_000152.5(GAA):c.1194+16_1194+18del
|
rs750576595
|
0.00002
|
|
NM_000152.5(GAA):c.1194+17G>T
|
rs548850587
|
0.00002
|
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
|
NM_000152.5(GAA):c.1438-11T>A
|
rs376247021
|
0.00002
|
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
|
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
|
rs745482879
|
0.00002
|
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
|
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)
|
rs121907942
|
0.00002
|
|
NM_000152.5(GAA):c.1637-17G>A
|
rs1031721446
|
0.00002
|
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
|
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
|
rs756507404
|
0.00002
|
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
|
NM_000152.5(GAA):c.1929G>A (p.Gly643=)
|
rs371096565
|
0.00002
|
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
|
NM_000152.5(GAA):c.2331+16C>T
|
rs762495996
|
0.00002
|
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
|
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter)
|
rs1344266804
|
0.00002
|
|
NM_000152.5(GAA):c.240A>G (p.Thr80=)
|
rs778124725
|
0.00002
|
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
|
NM_000152.5(GAA):c.2445C>T (p.Asn815=)
|
rs755846997
|
0.00002
|
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
|
NM_000152.5(GAA):c.2482-19C>T
|
rs750055374
|
0.00002
|
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
|
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
|
rs375831200
|
0.00002
|
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
|
NM_000152.5(GAA):c.546+2_546+6dup
|
rs753159224
|
0.00002
|
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
|
NM_000152.5(GAA):c.692+16T>C
|
rs774229249
|
0.00002
|
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
|
NM_000152.5(GAA):c.72T>C (p.Ala24=)
|
rs747380728
|
0.00002
|
|
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
|
rs747820772
|
0.00002
|
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
|
NM_000152.5(GAA):c.924C>T (p.His308=)
|
rs370105640
|
0.00002
|
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
|
NM_000152.5(GAA):c.972G>A (p.Pro324=)
|
rs763445243
|
0.00002
|
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
|
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
|
rs867405975
|
0.00002
|
|
NM_000154.2(GALK1):c.1032G>A (p.Thr344=)
|
rs771995336
|
0.00002
|
|
NM_000154.2(GALK1):c.1035C>T (p.Gly345=)
|
rs576223041
|
0.00002
|
|
NM_000154.2(GALK1):c.1089C>T (p.His363=)
|
rs200502537
|
0.00002
|
|
NM_000154.2(GALK1):c.1107+9G>A
|
rs763207227
|
0.00002
|
|
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
|
rs747793390
|
0.00002
|
|
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)
|
rs536209426
|
0.00002
|
|
NM_000154.2(GALK1):c.171G>A (p.Leu57=)
|
rs779604073
|
0.00002
|
|
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
|
rs371641311
|
0.00002
|
|
NM_000154.2(GALK1):c.294G>T (p.Ser98=)
|
rs766656571
|
0.00002
|
|
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys)
|
rs764167059
|
0.00002
|
|
NM_000154.2(GALK1):c.771G>A (p.Glu257=)
|
rs764099539
|
0.00002
|
|
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln)
|
rs779054525
|
0.00002
|
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
|
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
|
rs201681295
|
0.00002
|
|
NM_000154.2(GALK1):c.948C>T (p.Asp316=)
|
rs370706611
|
0.00002
|
|
NM_000155.4(GALT):c.1059+11A>G
|
rs886042405
|
0.00002
|
|
NM_000155.4(GALT):c.1077G>A (p.Arg359=)
|
rs148967210
|
0.00002
|
|
NM_000155.4(GALT):c.108G>C (p.Pro36=)
|
rs1362198825
|
0.00002
|
|
NM_000155.4(GALT):c.1116C>T (p.Asp372=)
|
rs757314660
|
0.00002
|
|
NM_000155.4(GALT):c.1134C>T (p.Ile378=)
|
rs756093267
|
0.00002
|
|
NM_000155.4(GALT):c.233C>T (p.Ala78Val)
|
rs981018740
|
0.00002
|
|
NM_000155.4(GALT):c.267C>T (p.Tyr89=)
|
rs145628307
|
0.00002
|
|
NM_000155.4(GALT):c.268G>C (p.Asp90His)
|
rs201330799
|
0.00002
|
|
NM_000155.4(GALT):c.507+10G>A
|
rs753052473
|
0.00002
|
|
NM_000155.4(GALT):c.507+17C>T
|
rs747136664
|
0.00002
|
|
NM_000155.4(GALT):c.564+9G>A
|
rs373302496
|
0.00002
|
|
NM_000155.4(GALT):c.609G>A (p.Glu203=)
|
rs770451714
|
0.00002
|
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
|
NM_000155.4(GALT):c.68C>A (p.Thr23Asn)
|
rs1365354002
|
0.00002
|
|
NM_000155.4(GALT):c.799C>T (p.Leu267=)
|
rs764006034
|
0.00002
|
|
NM_000155.4(GALT):c.803C>A (p.Thr268Asn)
|
rs111033847
|
0.00002
|
|
NM_000155.4(GALT):c.905-5G>A
|
rs111258262
|
0.00002
|
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
|
NM_000158.4(GBE1):c.1200T>C (p.Val400=)
|
rs1464112150
|
0.00002
|
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
|
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
|
rs373029683
|
0.00002
|
|
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val)
|
rs760095778
|
0.00002
|
|
NM_000158.4(GBE1):c.1446+15G>T
|
rs752305746
|
0.00002
|
|
NM_000158.4(GBE1):c.1468del (p.Leu490fs)
|
rs774465102
|
0.00002
|
|
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys)
|
rs183019204
|
0.00002
|
|
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys)
|
rs370246900
|
0.00002
|
|
NM_000158.4(GBE1):c.1888A>G (p.Ser630Gly)
|
rs758683393
|
0.00002
|
|
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
|
rs377105672
|
0.00002
|
|
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
|
rs76807363
|
0.00002
|
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
|
NM_000158.4(GBE1):c.460T>C (p.Leu154=)
|
rs1250639043
|
0.00002
|
|
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
|
rs369676236
|
0.00002
|
|
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn)
|
rs758425725
|
0.00002
|
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
|
NM_000158.4(GBE1):c.987C>T (p.Tyr329=)
|
rs573055138
|
0.00002
|
|
NM_000162.3(GCK):c.-487C>G
|
rs1329261791
|
0.00002
|
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
|
NM_000162.5(GCK):c.1285A>C (p.Arg429=)
|
rs140672134
|
0.00002
|
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
|
NM_000162.5(GCK):c.435C>G (p.Pro145=)
|
rs773281783
|
0.00002
|
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
0.00002
|
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
|
NM_000162.5(GCK):c.849C>T (p.Asn283=)
|
rs199851776
|
0.00002
|
|
NM_000175.5(GPI):c.1028A>G (p.Gln343Arg)
|
rs267606851
|
0.00002
|
|
NM_000181.4(GUSB):c.1062G>A (p.Ala354=)
|
rs554759648
|
0.00002
|
|
NM_000181.4(GUSB):c.1066-16C>T
|
rs758677498
|
0.00002
|
|
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)
|
rs121918185
|
0.00002
|
|
NM_000181.4(GUSB):c.1193G>A (p.Arg398His)
|
rs776843811
|
0.00002
|
|
NM_000181.4(GUSB):c.1244+1G>A
|
rs765969571
|
0.00002
|
|
NM_000181.4(GUSB):c.1270C>A (p.His424Asn)
|
rs866996794
|
0.00002
|
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
|
NM_000181.4(GUSB):c.1654-4C>T
|
rs563449417
|
0.00002
|
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
|
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg)
|
rs776024156
|
0.00002
|
|
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
|
rs538431094
|
0.00002
|
|
NM_000181.4(GUSB):c.397-19G>A
|
rs759668020
|
0.00002
|
|
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro)
|
rs755465262
|
0.00002
|
|
NM_000181.4(GUSB):c.697G>A (p.Val233Ile)
|
rs202210104
|
0.00002
|
|
NM_000181.4(GUSB):c.813G>A (p.Ala271=)
|
rs150999162
|
0.00002
|
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
|
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
|
rs757723989
|
0.00002
|
|
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)
|
rs764057581
|
0.00002
|
|
NM_000199.5(SGSH):c.1194C>T (p.Ile398=)
|
rs759758209
|
0.00002
|
|
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu)
|
rs150222010
|
0.00002
|
|
NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn)
|
rs1047935424
|
0.00002
|
|
NM_000199.5(SGSH):c.135C>T (p.Ile45=)
|
rs775770560
|
0.00002
|
|
NM_000199.5(SGSH):c.136G>A (p.Ala46Thr)
|
rs772636496
|
0.00002
|
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
|
NM_000199.5(SGSH):c.1440G>A (p.Val480=)
|
rs769459888
|
0.00002
|
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
|
NM_000199.5(SGSH):c.249+16C>T
|
rs575584322
|
0.00002
|
|
NM_000199.5(SGSH):c.249+19G>A
|
rs372274963
|
0.00002
|
|
NM_000199.5(SGSH):c.301T>C (p.Phe101Leu)
|
rs1322090067
|
0.00002
|
|
NM_000199.5(SGSH):c.355+12G>A
|
rs376088400
|
0.00002
|
|
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)
|
rs761607612
|
0.00002
|
|
NM_000199.5(SGSH):c.37C>T (p.Leu13=)
|
rs1412578109
|
0.00002
|
|
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)
|
rs104894642
|
0.00002
|
|
NM_000199.5(SGSH):c.399G>A (p.Pro133=)
|
rs752056541
|
0.00002
|
|
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp)
|
rs189571889
|
0.00002
|
|
NM_000199.5(SGSH):c.506+10G>A
|
rs549782167
|
0.00002
|
|
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
|
rs760996554
|
0.00002
|
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
|
NM_000199.5(SGSH):c.574A>G (p.Thr192Ala)
|
rs764278674
|
0.00002
|
|
NM_000199.5(SGSH):c.657C>T (p.Asp219=)
|
rs756315850
|
0.00002
|
|
NM_000199.5(SGSH):c.65C>T (p.Pro22Leu)
|
rs1212600929
|
0.00002
|
|
NM_000199.5(SGSH):c.663+8G>A
|
rs773765512
|
0.00002
|
|
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser)
|
rs771177142
|
0.00002
|
|
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu)
|
rs748671633
|
0.00002
|
|
NM_000199.5(SGSH):c.698G>A (p.Arg233Gln)
|
rs370291256
|
0.00002
|
|
NM_000199.5(SGSH):c.727G>A (p.Val243Ile)
|
rs770944322
|
0.00002
|
|
NM_000199.5(SGSH):c.745+17G>A
|
rs778580350
|
0.00002
|
|
NM_000199.5(SGSH):c.950-11G>A
|
rs374872971
|
0.00002
|
|
NM_000202.8(IDS):c.1077G>C (p.Leu359=)
|
rs913480314
|
0.00002
|
|
NM_000202.8(IDS):c.1113G>A (p.Pro371=)
|
rs146615651
|
0.00002
|
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
|
NM_000202.8(IDS):c.1347G>A (p.Glu449=)
|
rs782690963
|
0.00002
|
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
|
NM_000202.8(IDS):c.147C>T (p.Pro49=)
|
rs1557340415
|
0.00002
|
|
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
|
rs782724941
|
0.00002
|
|
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
|
rs1557337560
|
0.00002
|
|
NM_000202.8(IDS):c.177G>A (p.Val59=)
|
rs782743276
|
0.00002
|
|
NM_000202.8(IDS):c.189T>C (p.Asn63=)
|
rs782083523
|
0.00002
|
|
NM_000202.8(IDS):c.240+13A>G
|
rs782621152
|
0.00002
|
|
NM_000202.8(IDS):c.264C>T (p.Arg88=)
|
rs375362189
|
0.00002
|
|
NM_000202.8(IDS):c.508-6T>C
|
rs1352374568
|
0.00002
|
|
NM_000202.8(IDS):c.557T>C (p.Val186Ala)
|
rs782007728
|
0.00002
|
|
NM_000202.8(IDS):c.681G>A (p.Lys227=)
|
rs1557339514
|
0.00002
|
|
NM_000202.8(IDS):c.696C>T (p.Phe232=)
|
rs782498858
|
0.00002
|
|
NM_000202.8(IDS):c.880-19A>G
|
rs781883143
|
0.00002
|
|
NM_000202.8(IDS):c.918T>C (p.Tyr306=)
|
rs781920980
|
0.00002
|
|
NM_000202.8(IDS):c.955G>A (p.Asp319Asn)
|
rs782549285
|
0.00002
|
|
NM_000202.8(IDS):c.97A>T (p.Thr33Ser)
|
rs782158763
|
0.00002
|
|
NM_000202.8(IDS):c.999G>A (p.Ser333=)
|
rs1483244890
|
0.00002
|
|
NM_000203.5(IDUA):c.1035C>G (p.Leu345=)
|
rs374216702
|
0.00002
|
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
|
NM_000203.5(IDUA):c.1107C>T (p.Phe369=)
|
rs769568236
|
0.00002
|
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
|
NM_000203.5(IDUA):c.1195G>A (p.Glu399Lys)
|
rs1034769935
|
0.00002
|
|
NM_000203.5(IDUA):c.1224C>T (p.Ala408=)
|
rs774488302
|
0.00002
|
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
|
NM_000203.5(IDUA):c.1251G>A (p.Thr417=)
|
rs1053501201
|
0.00002
|
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
|
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
|
rs794727017
|
0.00002
|
|
NM_000203.5(IDUA):c.1570C>T (p.Leu524=)
|
rs1022872293
|
0.00002
|
|
NM_000203.5(IDUA):c.158+9T>A
|
rs1348088042
|
0.00002
|
|
NM_000203.5(IDUA):c.1581C>T (p.Arg527=)
|
rs748327468
|
0.00002
|
|
NM_000203.5(IDUA):c.1587G>T (p.Ala529=)
|
rs773184536
|
0.00002
|
|
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
|
rs776787370
|
0.00002
|
|
NM_000203.5(IDUA):c.1764C>T (p.Asp588=)
|
rs751577725
|
0.00002
|
|
NM_000203.5(IDUA):c.1767T>A (p.Gly589=)
|
rs752327610
|
0.00002
|
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
|
NM_000203.5(IDUA):c.1829-1G>A
|
rs745915863
|
0.00002
|
|
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
|
rs965431982
|
0.00002
|
|
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)
|
rs756572099
|
0.00002
|
|
NM_000203.5(IDUA):c.1941C>G (p.Pro647=)
|
rs764473896
|
0.00002
|
|
NM_000203.5(IDUA):c.216C>G (p.Leu72=)
|
rs1174720330
|
0.00002
|
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
|
NM_000203.5(IDUA):c.42G>C (p.Leu14=)
|
rs1021970063
|
0.00002
|
|
NM_000203.5(IDUA):c.494-9C>T
|
rs1488371363
|
0.00002
|
|
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
|
rs765431965
|
0.00002
|
|
NM_000203.5(IDUA):c.589+9C>T
|
rs769683019
|
0.00002
|
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
|
NM_000203.5(IDUA):c.924G>C (p.Leu308=)
|
rs760198221
|
0.00002
|
|
NM_000203.5(IDUA):c.939G>A (p.Arg313=)
|
rs540430727
|
0.00002
|
|
NM_000203.5(IDUA):c.946G>A (p.Val316Met)
|
rs755445369
|
0.00002
|
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
|
NM_000262.3(NAGA):c.1110C>T (p.Asp370=)
|
rs781670429
|
0.00002
|
|
NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)
|
rs755283571
|
0.00002
|
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
|
NM_000262.3(NAGA):c.759+10T>G
|
rs906746504
|
0.00002
|
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
|
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
|
rs1412833749
|
0.00002
|
|
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
|
rs1447090076
|
0.00002
|
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
|
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
|
rs752971320
|
0.00002
|
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
|
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
|
rs901311027
|
0.00002
|
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
|
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu)
|
rs751203469
|
0.00002
|
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
|
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
|
rs1208771812
|
0.00002
|
|
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=)
|
rs1306672947
|
0.00002
|
|
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)
|
rs763299645
|
0.00002
|
|
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
|
rs750078603
|
0.00002
|
|
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=)
|
rs766039758
|
0.00002
|
|
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
|
rs766199293
|
0.00002
|
|
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)
|
rs753520553
|
0.00002
|
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
|
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
|
rs941869157
|
0.00002
|
|
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
|
rs200729468
|
0.00002
|
|
NM_000263.4(NAGLU):c.764+11G>A
|
rs756517376
|
0.00002
|
|
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
|
rs779208941
|
0.00002
|
|
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)
|
rs1367997023
|
0.00002
|
|
NM_000284.4(PDHA1):c.318C>T (p.Ala106=)
|
rs764516370
|
0.00002
|
|
NM_000284.4(PDHA1):c.327C>T (p.Asn109=)
|
rs772943333
|
0.00002
|
|
NM_000284.4(PDHA1):c.663C>T (p.Ile221=)
|
rs929262350
|
0.00002
|
|
NM_000284.4(PDHA1):c.759+9A>G
|
rs2643456
|
0.00002
|
|
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)
|
rs763733376
|
0.00002
|
|
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)
|
rs373275701
|
0.00002
|
|
NM_000284.4(PDHA1):c.983A>G (p.Asn328Ser)
|
rs758465753
|
0.00002
|
|
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
|
rs375592512
|
0.00002
|
|
NM_000289.6(PFKM):c.1128-4A>G
|
rs570665595
|
0.00002
|
|
NM_000289.6(PFKM):c.1191+6G>T
|
rs779486374
|
0.00002
|
|
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
|
rs746775189
|
0.00002
|
|
NM_000289.6(PFKM):c.1308C>G (p.Val436=)
|
rs779395140
|
0.00002
|
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
|
NM_000289.6(PFKM):c.1464T>C (p.Phe488=)
|
rs374814413
|
0.00002
|
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
|
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys)
|
rs763839998
|
0.00002
|
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
|
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
|
rs776783895
|
0.00002
|
|
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
|
rs761487239
|
0.00002
|
|
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
|
rs748647298
|
0.00002
|
|
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp)
|
rs757746489
|
0.00002
|
|
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
|
rs1223915629
|
0.00002
|
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
|
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr)
|
rs576835893
|
0.00002
|
|
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
|
rs776432077
|
0.00002
|
|
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
|
rs764516934
|
0.00002
|
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
|
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
|
rs201201589
|
0.00002
|
|
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
|
rs147273213
|
0.00002
|
|
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys)
|
rs1026868358
|
0.00002
|
|
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)
|
rs782084984
|
0.00002
|
|
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)
|
rs781839243
|
0.00002
|
|
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)
|
rs201238498
|
0.00002
|
|
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
|
rs757718008
|
0.00002
|
|
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)
|
rs2048680804
|
0.00002
|
|
NM_000292.3(PHKA2):c.3111+5C>T
|
rs756217257
|
0.00002
|
|
NM_000292.3(PHKA2):c.3282+14C>T
|
rs760202357
|
0.00002
|
|
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)
|
rs750886848
|
0.00002
|
|
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
|
rs186632999
|
0.00002
|
|
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
|
rs1243574468
|
0.00002
|
|
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
|
rs981615352
|
0.00002
|
|
NM_000293.3(PHKB):c.134T>A (p.Leu45His)
|
rs762053276
|
0.00002
|
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
|
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
|
rs530842640
|
0.00002
|
|
NM_000293.3(PHKB):c.2278+15C>G
|
rs201402032
|
0.00002
|
|
NM_000293.3(PHKB):c.2544C>T (p.Val848=)
|
rs200981011
|
0.00002
|
|
NM_000293.3(PHKB):c.282C>T (p.Ala94=)
|
rs372209609
|
0.00002
|
|
NM_000293.3(PHKB):c.678A>G (p.Lys226=)
|
rs762504730
|
0.00002
|
|
NM_000294.3(PHKG2):c.-3A>G
|
rs1049581523
|
0.00002
|
|
NM_000294.3(PHKG2):c.1031G>A (p.Arg344Gln)
|
rs532137455
|
0.00002
|
|
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
|
rs746361026
|
0.00002
|
|
NM_000294.3(PHKG2):c.153G>A (p.Ala51=)
|
rs368095671
|
0.00002
|
|
NM_000294.3(PHKG2):c.927+18A>G
|
rs369022609
|
0.00002
|
|
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
|
rs756345604
|
0.00002
|
|
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg)
|
rs918627824
|
0.00002
|
|
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)
|
rs201953584
|
0.00002
|
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
|
NM_000308.4(CTSA):c.-12G>C
|
rs770340993
|
0.00002
|
|
NM_000308.4(CTSA):c.1074A>T (p.Gln358His)
|
rs766994463
|
0.00002
|
|
NM_000308.4(CTSA):c.1081A>G (p.Met361Val)
|
rs752703552
|
0.00002
|
|
NM_000308.4(CTSA):c.1255-14T>C
|
rs760814659
|
0.00002
|
|
NM_000308.4(CTSA):c.1318T>G (p.Phe440Val)
|
rs137854540
|
0.00002
|
|
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val)
|
rs185187245
|
0.00002
|
|
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)
|
rs373421813
|
0.00002
|
|
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser)
|
rs886056713
|
0.00002
|
|
NM_000308.4(CTSA):c.444+18C>T
|
rs1258174043
|
0.00002
|
|
NM_000308.4(CTSA):c.55_57del (p.Leu19del)
|
rs544157818
|
0.00002
|
|
NM_000308.4(CTSA):c.693-3C>T
|
rs773034222
|
0.00002
|
|
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys)
|
rs763381306
|
0.00002
|
|
NM_000308.4(CTSA):c.987C>T (p.Pro329=)
|
rs761023765
|
0.00002
|
|
NM_000308.4(CTSA):c.991del (p.Cys331fs)
|
rs745743780
|
0.00002
|
|
NM_000340.2(SLC2A2):c.*1004G>A
|
rs1472003372
|
0.00002
|
|
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter)
|
rs121909742
|
0.00002
|
|
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=)
|
rs546539032
|
0.00002
|
|
NM_000340.2(SLC2A2):c.371+19T>C
|
rs752870085
|
0.00002
|
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
|
NM_000343.3(SLC5A1):c.-36G>A
|
rs200961861
|
0.00002
|
|
NM_000343.4(SLC5A1):c.*2132C>A
|
rs541518106
|
0.00002
|
|
NM_000343.4(SLC5A1):c.*638T>C
|
rs1049834917
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln)
|
rs747215838
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
|
rs200964696
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val)
|
rs773967126
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr)
|
rs199872460
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr)
|
rs759726503
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)
|
rs185883847
|
0.00002
|
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
|
NM_000343.4(SLC5A1):c.478-20C>T
|
rs200103091
|
0.00002
|
|
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met)
|
rs199872285
|
0.00002
|
|
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu)
|
rs766404734
|
0.00002
|
|
NM_000352.6(ABCC8):c.1002C>T (p.Phe334=)
|
rs763978514
|
0.00002
|
|
NM_000352.6(ABCC8):c.1071C>G (p.Val357=)
|
rs747552453
|
0.00002
|
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
|
NM_000352.6(ABCC8):c.1668C>T (p.Leu556=)
|
rs1287759139
|
0.00002
|
|
NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)
|
rs750619309
|
0.00002
|
|
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)
|
rs550788491
|
0.00002
|
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
|
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)
|
rs371181016
|
0.00002
|
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
|
NM_000352.6(ABCC8):c.1998G>C (p.Leu666=)
|
rs1191652273
|
0.00002
|
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
|
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)
|
rs747902103
|
0.00002
|
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
|
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)
|
rs779736828
|
0.00002
|
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
|
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)
|
rs754554936
|
0.00002
|
|
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
|
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)
|
rs1254230359
|
0.00002
|
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
|
NM_000352.6(ABCC8):c.3557+20G>C
|
rs764779784
|
0.00002
|
|
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
|
rs368710356
|
0.00002
|
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
|
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
|
rs774965446
|
0.00002
|
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
|
NM_000352.6(ABCC8):c.414C>T (p.Ala138=)
|
rs372766371
|
0.00002
|
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
|
NM_000352.6(ABCC8):c.4412-4T>G
|
rs1476016104
|
0.00002
|
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
|
NM_000352.6(ABCC8):c.813C>T (p.Asp271=)
|
rs569222899
|
0.00002
|
|
NM_000365.6(TPI1):c.116-13A>G
|
rs782238701
|
0.00002
|
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
|
NM_000404.4(GLB1):c.1068+7G>A
|
rs776131111
|
0.00002
|
|
NM_000404.4(GLB1):c.1077A>G (p.Lys359=)
|
rs751886625
|
0.00002
|
|
NM_000404.4(GLB1):c.1101A>G (p.Pro367=)
|
rs763663574
|
0.00002
|
|
NM_000404.4(GLB1):c.1143+3A>C
|
rs759517360
|
0.00002
|
|
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)
|
rs780724173
|
0.00002
|
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
|
NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu)
|
rs747812191
|
0.00002
|
|
NM_000404.4(GLB1):c.1445G>A (p.Arg482His)
|
rs72555391
|
0.00002
|
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
|
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
|
rs1175119240
|
0.00002
|
|
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)
|
rs769781778
|
0.00002
|
|
NM_000404.4(GLB1):c.1647G>A (p.Pro549=)
|
rs772573490
|
0.00002
|
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
|
NM_000404.4(GLB1):c.2007C>T (p.Asn669=)
|
rs750202423
|
0.00002
|
|
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
|
rs767685019
|
0.00002
|
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
|
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)
|
rs748830051
|
0.00002
|
|
NM_000404.4(GLB1):c.27C>T (p.Leu9=)
|
rs905194921
|
0.00002
|
|
NM_000404.4(GLB1):c.327G>T (p.Arg109=)
|
rs751602590
|
0.00002
|
|
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn)
|
rs375582374
|
0.00002
|
|
NM_000404.4(GLB1):c.496C>T (p.Leu166=)
|
rs747305905
|
0.00002
|
|
NM_000404.4(GLB1):c.553-17T>C
|
rs1194605833
|
0.00002
|
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
|
NM_000404.4(GLB1):c.780C>G (p.Pro260=)
|
rs763307375
|
0.00002
|
|
NM_000404.4(GLB1):c.793-9T>A
|
rs765504729
|
0.00002
|
|
NM_000404.4(GLB1):c.841C>T (p.His281Tyr)
|
rs745386663
|
0.00002
|
|
NM_000404.4(GLB1):c.858C>T (p.Thr286=)
|
rs770638519
|
0.00002
|
|
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)
|
rs748853764
|
0.00002
|
|
NM_000404.4(GLB1):c.993C>T (p.Tyr331=)
|
rs752884772
|
0.00002
|
|
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)
|
rs781658798
|
0.00002
|
|
NM_000434.4(NEU1):c.*180G>A
|
rs968121109
|
0.00002
|
|
NM_000434.4(NEU1):c.799-4T>C
|
rs759065536
|
0.00002
|
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
|
NM_000434.4(NEU1):c.982G>A (p.Gly328Ser)
|
rs534846786
|
0.00002
|
|
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly)
|
rs375644184
|
0.00002
|
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
|
NM_000507.3(FBP1):c.-219C>T
|
rs1057515693
|
0.00002
|
|
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)
|
rs758609113
|
0.00002
|
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
|
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
|
rs757338386
|
0.00002
|
|
NM_000507.4(FBP1):c.825+14C>G
|
rs772828820
|
0.00002
|
|
NM_000507.4(FBP1):c.840C>T (p.Tyr280=)
|
rs377759037
|
0.00002
|
|
NM_000512.5(GALNS):c.*263T>C
|
rs886052451
|
0.00002
|
|
NM_000512.5(GALNS):c.1005G>C (p.Val335=)
|
rs772871566
|
0.00002
|
|
NM_000512.5(GALNS):c.102G>A (p.Leu34=)
|
rs748866414
|
0.00002
|
|
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)
|
rs761386453
|
0.00002
|
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
|
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val)
|
rs758802414
|
0.00002
|
|
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)
|
rs150111302
|
0.00002
|
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
|
NM_000512.5(GALNS):c.1242+17G>A
|
rs1159726808
|
0.00002
|
|
NM_000512.5(GALNS):c.1476G>A (p.Ala492=)
|
rs371056948
|
0.00002
|
|
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)
|
rs542835085
|
0.00002
|
|
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
|
rs201153945
|
0.00002
|
|
NM_000512.5(GALNS):c.245-11C>T
|
rs552476248
|
0.00002
|
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00002
|
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
|
NM_000512.5(GALNS):c.327A>C (p.Thr109=)
|
rs759916392
|
0.00002
|
|
NM_000512.5(GALNS):c.453C>A (p.Pro151=)
|
rs752021223
|
0.00002
|
|
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)
|
rs794729202
|
0.00002
|
|
NM_000512.5(GALNS):c.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
|
NM_000512.5(GALNS):c.522C>G (p.Ala174=)
|
rs891821999
|
0.00002
|
|
NM_000512.5(GALNS):c.628C>T (p.Leu210=)
|
rs780787351
|
0.00002
|
|
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)
|
rs1468285336
|
0.00002
|
|
NM_000512.5(GALNS):c.663A>T (p.Ala221=)
|
rs749077864
|
0.00002
|
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
|
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)
|
rs759590432
|
0.00002
|
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
|
NM_000525.4(KCNJ11):c.*40C>T
|
rs746850899
|
0.00002
|
|
NM_000525.4(KCNJ11):c.-179C>T
|
rs776949660
|
0.00002
|
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
|
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=)
|
rs774849547
|
0.00002
|
|
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)
|
rs1554901851
|
0.00002
|
|
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)
|
rs756424776
|
0.00002
|
|
NM_000525.4(KCNJ11):c.762G>A (p.Pro254=)
|
rs761931092
|
0.00002
|
|
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)
|
rs778225010
|
0.00002
|
|
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)
|
rs757621300
|
0.00002
|
|
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg)
|
rs1193170151
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser)
|
rs771528526
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=)
|
rs146715588
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
|
rs377509266
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1518G>A (p.Thr506=)
|
rs754672974
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
|
NM_000528.4(MAN2B1):c.159+9G>A
|
rs764391534
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
|
NM_000528.4(MAN2B1):c.1980C>T (p.Tyr660=)
|
rs564693678
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
|
rs999923581
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2166C>T (p.Gly722=)
|
rs770976179
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
|
rs199700264
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2267+9T>C
|
rs750833439
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)
|
rs121434331
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2304G>A (p.Thr768=)
|
rs749978005
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2349C>T (p.Tyr783=)
|
rs948101708
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2424G>A (p.Ser808=)
|
rs762947868
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2436+8G>T
|
rs1375276402
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2485C>T (p.Leu829=)
|
rs1406149211
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2655G>A (p.Pro885=)
|
rs1046211352
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala)
|
rs1186717379
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2821-5C>T
|
rs761870446
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2923+9C>T
|
rs771288611
|
0.00002
|
|
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)
|
rs376856949
|
0.00002
|
|
NM_000528.4(MAN2B1):c.437-6G>A
|
rs1471583306
|
0.00002
|
|
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
|
rs765088432
|
0.00002
|
|
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg)
|
rs1329492928
|
0.00002
|
|
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His)
|
rs1310537291
|
0.00002
|
|
NM_000528.4(MAN2B1):c.763+9C>T
|
rs1266555392
|
0.00002
|
|
NM_000528.4(MAN2B1):c.876G>A (p.Leu292=)
|
rs768458196
|
0.00002
|
|
NM_000528.4(MAN2B1):c.910-20G>A
|
rs376680335
|
0.00002
|
|
NM_000528.4(MAN2B1):c.933C>T (p.His311=)
|
rs760393236
|
0.00002
|
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
|
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)
|
rs1401743626
|
0.00002
|
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
|
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
|
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)
|
rs147198532
|
0.00002
|
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
|
NM_000545.8(HNF1A):c.264G>A (p.Glu88=)
|
rs201223431
|
0.00002
|
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
|
NM_000545.8(HNF1A):c.978G>A (p.Ala326=)
|
rs200351196
|
0.00002
|
|
NM_000642.3(AGL):c.1002G>A (p.Thr334=)
|
rs369218410
|
0.00002
|
|
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
|
rs372121829
|
0.00002
|
|
NM_000642.3(AGL):c.1047T>C (p.Asp349=)
|
rs1446805356
|
0.00002
|
|
NM_000642.3(AGL):c.1083-6C>T
|
rs761394139
|
0.00002
|
|
NM_000642.3(AGL):c.1187C>T (p.Ala396Val)
|
rs747879201
|
0.00002
|
|
NM_000642.3(AGL):c.1260T>C (p.Thr420=)
|
rs755271123
|
0.00002
|
|
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
|
rs897697440
|
0.00002
|
|
NM_000642.3(AGL):c.1284-20A>G
|
rs368724960
|
0.00002
|
|
NM_000642.3(AGL):c.1422G>A (p.Pro474=)
|
rs144714696
|
0.00002
|
|
NM_000642.3(AGL):c.1458C>T (p.Cys486=)
|
rs143287982
|
0.00002
|
|
NM_000642.3(AGL):c.145A>G (p.Asn49Asp)
|
rs751982392
|
0.00002
|
|
NM_000642.3(AGL):c.1482C>T (p.Arg494=)
|
rs781451112
|
0.00002
|
|
NM_000642.3(AGL):c.1729A>G (p.Ile577Val)
|
rs762529905
|
0.00002
|
|
NM_000642.3(AGL):c.1900-6T>C
|
rs749096703
|
0.00002
|
|
NM_000642.3(AGL):c.1911G>A (p.Ala637=)
|
rs778511499
|
0.00002
|
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
|
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
|
rs780518752
|
0.00002
|
|
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
|
rs1249716180
|
0.00002
|
|
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser)
|
rs1369361901
|
0.00002
|
|
NM_000642.3(AGL):c.2241T>C (p.Ser747=)
|
rs754816668
|
0.00002
|
|
NM_000642.3(AGL):c.2259T>C (p.Asn753=)
|
rs752434259
|
0.00002
|
|
NM_000642.3(AGL):c.2271A>T (p.Ser757=)
|
rs756362070
|
0.00002
|
|
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
|
rs754127029
|
0.00002
|
|
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
|
rs1368670677
|
0.00002
|
|
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys)
|
rs781573434
|
0.00002
|
|
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg)
|
rs146049603
|
0.00002
|
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
|
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
|
rs377540254
|
0.00002
|
|
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr)
|
rs781463740
|
0.00002
|
|
NM_000642.3(AGL):c.2950-9T>C
|
rs1056703468
|
0.00002
|
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00002
|
|
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)
|
rs1245795149
|
0.00002
|
|
NM_000642.3(AGL):c.3126G>A (p.Leu1042=)
|
rs778226959
|
0.00002
|
|
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys)
|
rs1422201126
|
0.00002
|
|
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
|
rs769337147
|
0.00002
|
|
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr)
|
rs1316336745
|
0.00002
|
|
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
|
rs768133891
|
0.00002
|
|
NM_000642.3(AGL):c.3362+9G>A
|
rs747485058
|
0.00002
|
|
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
|
rs376059155
|
0.00002
|
|
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
|
rs1171460627
|
0.00002
|
|
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
|
rs775270593
|
0.00002
|
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
|
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln)
|
rs772774189
|
0.00002
|
|
NM_000642.3(AGL):c.3751G>A (p.Gly1251Arg)
|
rs745452268
|
0.00002
|
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
|
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
|
rs988176424
|
0.00002
|
|
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
|
rs375493401
|
0.00002
|
|
NM_000642.3(AGL):c.4104T>G (p.Ala1368=)
|
rs775129071
|
0.00002
|
|
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
|
rs539403694
|
0.00002
|
|
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly)
|
rs749209422
|
0.00002
|
|
NM_000642.3(AGL):c.4389A>G (p.Leu1463=)
|
rs148555004
|
0.00002
|
|
NM_000642.3(AGL):c.4419T>C (p.Thr1473=)
|
rs1188610735
|
0.00002
|
|
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala)
|
rs770178156
|
0.00002
|
|
NM_000642.3(AGL):c.4472A>G (p.His1491Arg)
|
rs760188084
|
0.00002
|
|
NM_000642.3(AGL):c.4539C>T (p.Phe1513=)
|
rs752519483
|
0.00002
|
|
NM_000642.3(AGL):c.467A>G (p.Asn156Ser)
|
rs369767463
|
0.00002
|
|
NM_000642.3(AGL):c.665-9T>C
|
rs373354556
|
0.00002
|
|
NM_000642.3(AGL):c.675T>C (p.Ser225=)
|
rs145391010
|
0.00002
|
|
NM_000642.3(AGL):c.753C>T (p.Asp251=)
|
rs772247348
|
0.00002
|
|
NM_000642.3(AGL):c.754A>G (p.Arg252Gly)
|
rs373804474
|
0.00002
|
|
NM_000642.3(AGL):c.75T>G (p.Leu25=)
|
rs753243528
|
0.00002
|
|
NM_000642.3(AGL):c.82+18T>C
|
rs777480976
|
0.00002
|
|
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
|
rs752771103
|
0.00002
|
|
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)
|
rs886044917
|
0.00002
|
|
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
|
rs762269076
|
0.00002
|
|
NM_000642.3(AGL):c.93A>G (p.Leu31=)
|
rs757542271
|
0.00002
|
|
NM_000642.3(AGL):c.959-15T>C
|
rs1159446395
|
0.00002
|
|
NM_000642.3(AGL):c.966G>A (p.Arg322=)
|
rs199905460
|
0.00002
|
|
NM_000891.3(KCNJ2):c.*1367T>C
|
rs565257870
|
0.00002
|
|
NM_000891.3(KCNJ2):c.*1702CT[3]
|
rs1555604187
|
0.00002
|
|
NM_000891.3(KCNJ2):c.*2001A>G
|
rs886053336
|
0.00002
|
|
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)
|
rs372264881
|
0.00002
|
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
|
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)
|
rs774424161
|
0.00002
|
|
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)
|
rs786205813
|
0.00002
|
|
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=)
|
rs776798798
|
0.00002
|
|
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)
|
rs775567368
|
0.00002
|
|
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=)
|
rs544384907
|
0.00002
|
|
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)
|
rs142750807
|
0.00002
|
|
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=)
|
rs751279819
|
0.00002
|
|
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
|
rs755616546
|
0.00002
|
|
NM_000925.4(PDHB):c.1014A>G (p.Leu338=)
|
rs1462611352
|
0.00002
|
|
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
|
rs763842440
|
0.00002
|
|
NM_000925.4(PDHB):c.267+10C>A
|
rs781736851
|
0.00002
|
|
NM_000925.4(PDHB):c.304-4dup
|
rs1285910313
|
0.00002
|
|
NM_000925.4(PDHB):c.327A>G (p.Glu109=)
|
rs370951271
|
0.00002
|
|
NM_000925.4(PDHB):c.33C>G (p.Pro11=)
|
rs771813233
|
0.00002
|
|
NM_000925.4(PDHB):c.36T>C (p.Leu12=)
|
rs981644233
|
0.00002
|
|
NM_000925.4(PDHB):c.390C>T (p.Thr130=)
|
rs192604927
|
0.00002
|
|
NM_000925.4(PDHB):c.48C>T (p.Ser16=)
|
rs375651141
|
0.00002
|
|
NM_000925.4(PDHB):c.52C>T (p.Leu18=)
|
rs534688111
|
0.00002
|
|
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)
|
rs148957406
|
0.00002
|
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
|
NM_001008216.2(GALE):c.291G>A (p.Ser97=)
|
rs774474579
|
0.00002
|
|
NM_001008216.2(GALE):c.352-7C>T
|
rs762919578
|
0.00002
|
|
NM_001008216.2(GALE):c.550C>T (p.Arg184Cys)
|
rs767796512
|
0.00002
|
|
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu)
|
rs199904829
|
0.00002
|
|
NM_001008216.2(GALE):c.728A>C (p.His243Pro)
|
rs143015594
|
0.00002
|
|
NM_001008216.2(GALE):c.809G>A (p.Gly270Asp)
|
rs1226120841
|
0.00002
|
|
NM_001008216.2(GALE):c.812C>T (p.Thr271Met)
|
rs756331486
|
0.00002
|
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
|
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
|
rs137853861
|
0.00002
|
|
NM_001008216.2(GALE):c.979G>C (p.Asp327His)
|
rs150326189
|
0.00002
|
|
NM_001014436.3(DBNL):c.*3905G>A
|
rs760737158
|
0.00002
|
|
NM_001040716.2(PC):c.*43C>T
|
rs751861809
|
0.00002
|
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
|
NM_001040716.2(PC):c.1167G>A (p.Pro389=)
|
rs556534486
|
0.00002
|
|
NM_001040716.2(PC):c.1185+14G>A
|
rs375290516
|
0.00002
|
|
NM_001040716.2(PC):c.1353C>T (p.Arg451=)
|
rs542353629
|
0.00002
|
|
NM_001040716.2(PC):c.1354G>A (p.Val452Ile)
|
rs779387492
|
0.00002
|
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
|
NM_001040716.2(PC):c.1425T>C (p.Thr475=)
|
rs781599048
|
0.00002
|
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
|
NM_001040716.2(PC):c.1650T>C (p.Pro550=)
|
rs1164560956
|
0.00002
|
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
|
NM_001040716.2(PC):c.1690C>T (p.Leu564=)
|
rs1233418840
|
0.00002
|
|
NM_001040716.2(PC):c.171G>A (p.Thr57=)
|
rs373105398
|
0.00002
|
|
NM_001040716.2(PC):c.1755C>T (p.His585=)
|
rs760538194
|
0.00002
|
|
NM_001040716.2(PC):c.1866C>T (p.Cys622=)
|
rs1945519559
|
0.00002
|
|
NM_001040716.2(PC):c.1899C>A (p.Leu633=)
|
rs780830234
|
0.00002
|
|
NM_001040716.2(PC):c.189C>T (p.Thr63=)
|
rs762631892
|
0.00002
|
|
NM_001040716.2(PC):c.1935G>A (p.Gly645=)
|
rs750469404
|
0.00002
|
|
NM_001040716.2(PC):c.1944T>C (p.Ala648=)
|
rs774759089
|
0.00002
|
|
NM_001040716.2(PC):c.1962C>T (p.Tyr654=)
|
rs763471198
|
0.00002
|
|
NM_001040716.2(PC):c.2127C>T (p.Asp709=)
|
rs768324552
|
0.00002
|
|
NM_001040716.2(PC):c.2154C>T (p.Tyr718=)
|
rs1293856380
|
0.00002
|
|
NM_001040716.2(PC):c.2211C>T (p.Ile737=)
|
rs762599900
|
0.00002
|
|
NM_001040716.2(PC):c.228C>T (p.His76=)
|
rs774618137
|
0.00002
|
|
NM_001040716.2(PC):c.24T>C (p.His8=)
|
rs765578958
|
0.00002
|
|
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn)
|
rs758910766
|
0.00002
|
|
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys)
|
rs192822072
|
0.00002
|
|
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)
|
rs145046106
|
0.00002
|
|
NM_001040716.2(PC):c.3012G>A (p.Pro1004=)
|
rs112030121
|
0.00002
|
|
NM_001040716.2(PC):c.3033T>C (p.Ala1011=)
|
rs139740019
|
0.00002
|
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
|
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
|
rs768048602
|
0.00002
|
|
NM_001040716.2(PC):c.3327G>A (p.Lys1109=)
|
rs202085529
|
0.00002
|
|
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val)
|
rs777927070
|
0.00002
|
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
|
NM_001040716.2(PC):c.634-10G>A
|
rs751946688
|
0.00002
|
|
NM_001040716.2(PC):c.783C>T (p.Tyr261=)
|
rs144330590
|
0.00002
|
|
NM_001040716.2(PC):c.837C>T (p.Pro279=)
|
rs369972881
|
0.00002
|
|
NM_001040716.2(PC):c.855G>A (p.Pro285=)
|
rs200478006
|
0.00002
|
|
NM_001040716.2(PC):c.87C>A (p.Val29=)
|
rs777754654
|
0.00002
|
|
NM_001040716.2(PC):c.903+19G>A
|
rs201507432
|
0.00002
|
|
NM_001040716.2(PC):c.969C>T (p.Ile323=)
|
rs752996978
|
0.00002
|
|
NM_001041.4(SI):c.1106A>G (p.Lys369Arg)
|
rs756534501
|
0.00002
|
|
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)
|
rs370325800
|
0.00002
|
|
NM_001041.4(SI):c.1311T>C (p.Asn437=)
|
rs886058149
|
0.00002
|
|
NM_001041.4(SI):c.1616T>C (p.Met539Thr)
|
rs749835475
|
0.00002
|
|
NM_001041.4(SI):c.178T>C (p.Ser60Pro)
|
rs755487744
|
0.00002
|
|
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)
|
rs760887527
|
0.00002
|
|
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)
|
rs376341511
|
0.00002
|
|
NM_001041.4(SI):c.3293A>C (p.Gln1098Pro)
|
rs121912611
|
0.00002
|
|
NM_001041.4(SI):c.3888+12G>A
|
rs766861562
|
0.00002
|
|
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00002
|
|
NM_001041.4(SI):c.5109-3T>C
|
rs202110241
|
0.00002
|
|
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
|
rs771335037
|
0.00002
|
|
NM_001041.4(SI):c.636-14C>T
|
rs746808951
|
0.00002
|
|
NM_001041.4(SI):c.653G>T (p.Gly218Val)
|
rs775308282
|
0.00002
|
|
NM_001041.4(SI):c.788G>A (p.Arg263Gln)
|
rs143135955
|
0.00002
|
|
NM_001041.4(SI):c.969T>C (p.Phe323=)
|
rs780057549
|
0.00002
|
|
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)
|
rs542184779
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.*204C>T
|
rs1299052310
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.*263T>C
|
rs183965171
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.-530G>A
|
rs1417861590
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=)
|
rs782726848
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=)
|
rs782587864
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1124+18G>C
|
rs1555190434
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)
|
rs376140990
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)
|
rs953252068
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=)
|
rs1309434778
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)
|
rs745721191
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.785+12A>G
|
rs976964945
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)
|
rs555640045
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.985+240_985+241insTA
|
rs782397393
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)
|
rs201967384
|
0.00002
|
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
|
NM_001243177.4(ALDOA):c.498C>T (p.Gly166=)
|
rs145811469
|
0.00002
|
|
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)
|
rs769378422
|
0.00002
|
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
|
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)
|
rs1455309434
|
0.00002
|
|
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys)
|
rs772577036
|
0.00002
|
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
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.1985G>A (p.Ser662Asn)
|
rs773398782
|
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_001360016.2(G6PD):c.*466C>G
|
rs1239325414
|
0.00002
|
|
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=)
|
rs1440647556
|
0.00002
|
|
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)
|
rs1256250108
|
0.00002
|
|
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=)
|
rs1166552162
|
0.00002
|
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
|
NM_001360016.2(G6PD):c.1287+19G>A
|
rs781980305
|
0.00002
|
|
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=)
|
rs1557229582
|
0.00002
|
|
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)
|
rs782170250
|
0.00002
|
|
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=)
|
rs781829860
|
0.00002
|
|
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=)
|
rs377659103
|
0.00002
|
|
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=)
|
rs782797399
|
0.00002
|
|
NM_001360016.2(G6PD):c.1457+19C>T
|
rs1557229460
|
0.00002
|
|
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=)
|
rs782206043
|
0.00002
|
|
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)
|
rs1377337822
|
0.00002
|
|
NM_001360016.2(G6PD):c.186C>T (p.Pro62=)
|
rs781875587
|
0.00002
|
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
|
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)
|
rs781848254
|
0.00002
|
|
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu)
|
rs781794862
|
0.00002
|
|
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=)
|
rs1307320948
|
0.00002
|
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
|
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=)
|
rs375189502
|
0.00002
|
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
|
NM_001360016.2(G6PD):c.564C>T (p.Ser188=)
|
rs200626353
|
0.00002
|
|
NM_001360016.2(G6PD):c.597C>T (p.Ile199=)
|
rs369516039
|
0.00002
|
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
|
NM_001360016.2(G6PD):c.708C>T (p.Thr236=)
|
rs782118135
|
0.00002
|
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
|
NM_001370658.1(BTD):c.-17+11G>A
|
rs563797222
|
0.00002
|
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
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.616A>G (p.Lys206Glu)
|
rs1003975438
|
0.00002
|
|
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)
|
rs768097543
|
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_001715.3(BLK):c.27G>A (p.Pro9=)
|
rs536630306
|
0.00002
|
|
NM_001715.3(BLK):c.41C>T (p.Pro14Leu)
|
rs769734763
|
0.00002
|
|
NM_001715.3(BLK):c.571C>A (p.Pro191Thr)
|
rs769895420
|
0.00002
|
|
NM_001715.3(BLK):c.773-9C>T
|
rs772158649
|
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_001807.6(CEL):c.1402G>A (p.Ala468Thr)
|
rs777913068
|
0.00002
|
|
NM_001807.6(CEL):c.341-2A>G
|
rs755075929
|
0.00002
|
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
|
NM_001931.5(DLAT):c.1198-16T>C
|
rs377389152
|
0.00002
|
|
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
|
rs782627956
|
0.00002
|
|
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)
|
rs782529801
|
0.00002
|
|
NM_001931.5(DLAT):c.381+9T>G
|
rs1363476657
|
0.00002
|
|
NM_001931.5(DLAT):c.402T>C (p.Thr134=)
|
rs886047693
|
0.00002
|
|
NM_002076.4(GNS):c.*2740G>A
|
rs886049761
|
0.00002
|
|
NM_002076.4(GNS):c.1189T>C (p.Leu397=)
|
rs773031063
|
0.00002
|
|
NM_002076.4(GNS):c.1200+7A>G
|
rs776624874
|
0.00002
|
|
NM_002076.4(GNS):c.1317C>T (p.Phe439=)
|
rs780470761
|
0.00002
|
|
NM_002076.4(GNS):c.148G>A (p.Val50Met)
|
rs776163695
|
0.00002
|
|
NM_002076.4(GNS):c.1506G>A (p.Lys502=)
|
rs748361347
|
0.00002
|
|
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
|
rs771940326
|
0.00002
|
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
|
NM_002076.4(GNS):c.306G>A (p.Lys102=)
|
rs746164753
|
0.00002
|
|
NM_002076.4(GNS):c.463G>A (p.Gly155Arg)
|
rs1402191110
|
0.00002
|
|
NM_002076.4(GNS):c.526-7T>C
|
rs1179720847
|
0.00002
|
|
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)
|
rs368261202
|
0.00002
|
|
NM_002076.4(GNS):c.687C>T (p.Ile229=)
|
rs767396748
|
0.00002
|
|
NM_002076.4(GNS):c.895G>A (p.Val299Ile)
|
rs1327778268
|
0.00002
|
|
NM_002076.4(GNS):c.995-15G>A
|
rs200521875
|
0.00002
|
|
NM_002076.4(GNS):c.9C>T (p.Leu3=)
|
rs1479493439
|
0.00002
|
|
NM_002103.5(GYS1):c.-26C>T
|
rs202114467
|
0.00002
|
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
|
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
|
rs778215783
|
0.00002
|
|
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu)
|
rs759812102
|
0.00002
|
|
NM_002103.5(GYS1):c.1122T>C (p.Asn374=)
|
rs1300778334
|
0.00002
|
|
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg)
|
rs753922665
|
0.00002
|
|
NM_002103.5(GYS1):c.1258C>T (p.Leu420=)
|
rs761332247
|
0.00002
|
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
|
NM_002103.5(GYS1):c.146C>T (p.Thr49Met)
|
rs748894032
|
0.00002
|
|
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
|
rs766146709
|
0.00002
|
|
NM_002103.5(GYS1):c.1549+10G>A
|
rs1249320184
|
0.00002
|
|
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)
|
rs747911098
|
0.00002
|
|
NM_002103.5(GYS1):c.1779C>T (p.Ser593=)
|
rs372542706
|
0.00002
|
|
NM_002103.5(GYS1):c.1809+18C>A
|
rs752499733
|
0.00002
|
|
NM_002103.5(GYS1):c.1810-18del
|
rs746072387
|
0.00002
|
|
NM_002103.5(GYS1):c.1810-9T>C
|
rs758217607
|
0.00002
|
|
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
|
rs1205499394
|
0.00002
|
|
NM_002103.5(GYS1):c.309C>T (p.Phe103=)
|
rs1390208595
|
0.00002
|
|
NM_002103.5(GYS1):c.492+8C>A
|
rs751502676
|
0.00002
|
|
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
|
rs1465178449
|
0.00002
|
|
NM_002103.5(GYS1):c.678+13C>T
|
rs751882736
|
0.00002
|
|
NM_002103.5(GYS1):c.740C>T (p.Ala247Val)
|
rs1318179540
|
0.00002
|
|
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
|
rs769630976
|
0.00002
|
|
NM_002103.5(GYS1):c.941+4C>T
|
rs374388103
|
0.00002
|
|
NM_002103.5(GYS1):c.945T>A (p.His315Gln)
|
rs2038779389
|
0.00002
|
|
NM_002294.3(LAMP2):c.*3263T>C
|
rs1164559557
|
0.00002
|
|
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
|
rs781134467
|
0.00002
|
|
NM_002294.3(LAMP2):c.1094-10C>T
|
rs1278507301
|
0.00002
|
|
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=)
|
rs749338632
|
0.00002
|
|
NM_002294.3(LAMP2):c.1125C>T (p.Phe375=)
|
rs746288560
|
0.00002
|
|
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
|
rs2058522449
|
0.00002
|
|
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=)
|
rs397516736
|
0.00002
|
|
NM_002294.3(LAMP2):c.184-19A>G
|
rs1255756648
|
0.00002
|
|
NM_002294.3(LAMP2):c.232A>G (p.Ile78Val)
|
rs748676358
|
0.00002
|
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
|
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val)
|
rs755790073
|
0.00002
|
|
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)
|
rs377652722
|
0.00002
|
|
NM_002294.3(LAMP2):c.453T>C (p.Phe151=)
|
rs200348335
|
0.00002
|
|
NM_002294.3(LAMP2):c.557-12C>T
|
rs756269189
|
0.00002
|
|
NM_002294.3(LAMP2):c.64+6T>C
|
rs1921660826
|
0.00002
|
|
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln)
|
rs750118236
|
0.00002
|
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
|
NM_002294.3(LAMP2):c.797G>A (p.Arg266His)
|
rs200934351
|
0.00002
|
|
NM_002294.3(LAMP2):c.929-9T>C
|
rs978513368
|
0.00002
|
|
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=)
|
rs371959861
|
0.00002
|
|
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala)
|
rs991396612
|
0.00002
|
|
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)
|
rs367727872
|
0.00002
|
|
NM_002299.4(LCT):c.3535C>T (p.Gln1179Ter)
|
rs749118441
|
0.00002
|
|
NM_002299.4(LCT):c.3759G>A (p.Thr1253=)
|
rs764860323
|
0.00002
|
|
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)
|
rs555708380
|
0.00002
|
|
NM_002299.4(LCT):c.4198G>A (p.Gly1400Ser)
|
rs988407821
|
0.00002
|
|
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)
|
rs757978538
|
0.00002
|
|
NM_002299.4(LCT):c.5723G>A (p.Arg1908His)
|
rs577825311
|
0.00002
|
|
NM_002300.8(LDHB):c.19A>G (p.Lys7Glu)
|
rs118203897
|
0.00002
|
|
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys)
|
rs532712842
|
0.00002
|
|
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)
|
rs775184475
|
0.00002
|
|
NM_002500.5(NEUROD1):c.34G>C (p.Gly12Arg)
|
rs556400603
|
0.00002
|
|
NM_002591.4(PCK1):c.*249G>T
|
rs886056796
|
0.00002
|
|
NM_002591.4(PCK1):c.*92C>T
|
rs17847706
|
0.00002
|
|
NM_002591.4(PCK1):c.-3G>A
|
rs780659077
|
0.00002
|
|
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr)
|
rs267606016
|
0.00002
|
|
NM_002591.4(PCK1):c.1644C>G (p.Ala548=)
|
rs183812420
|
0.00002
|
|
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)
|
rs747438321
|
0.00002
|
|
NM_002591.4(PCK1):c.961+1G>A
|
rs776767788
|
0.00002
|
|
NM_002637.4(PHKA1):c.1311T>C (p.Asp437=)
|
rs782496296
|
0.00002
|
|
NM_002637.4(PHKA1):c.1383C>T (p.Tyr461=)
|
rs1057522310
|
0.00002
|
|
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=)
|
rs1259412573
|
0.00002
|
|
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys)
|
rs1556296540
|
0.00002
|
|
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp)
|
rs181530232
|
0.00002
|
|
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp)
|
rs781996165
|
0.00002
|
|
NM_002637.4(PHKA1):c.2137+12C>T
|
rs782222298
|
0.00002
|
|
NM_002637.4(PHKA1):c.2607-5C>T
|
rs375770238
|
0.00002
|
|
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
|
rs782102345
|
0.00002
|
|
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val)
|
rs782360415
|
0.00002
|
|
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys)
|
rs782514332
|
0.00002
|
|
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr)
|
rs375128462
|
0.00002
|
|
NM_002637.4(PHKA1):c.3288C>T (p.Thr1096=)
|
rs782626114
|
0.00002
|
|
NM_002637.4(PHKA1):c.3297+5G>A
|
rs781901953
|
0.00002
|
|
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr)
|
rs782814716
|
0.00002
|
|
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
|
rs781837256
|
0.00002
|
|
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn)
|
rs201601894
|
0.00002
|
|
NM_002863.5(PYGL):c.1366G>A (p.Val456Met)
|
rs113993979
|
0.00002
|
|
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)
|
rs113993980
|
0.00002
|
|
NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp)
|
rs757446684
|
0.00002
|
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
0.00002
|
|
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr)
|
rs555408487
|
0.00002
|
|
NM_002863.5(PYGL):c.2204C>T (p.Ala735Val)
|
rs767910015
|
0.00002
|
|
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met)
|
rs766875279
|
0.00002
|
|
NM_002863.5(PYGL):c.2358T>C (p.Asp786=)
|
rs765783288
|
0.00002
|
|
NM_002863.5(PYGL):c.329A>T (p.Asp110Val)
|
rs774026070
|
0.00002
|
|
NM_002863.5(PYGL):c.425-5T>G
|
rs1025550045
|
0.00002
|
|
NM_002863.5(PYGL):c.911_914dup (p.Leu305fs)
|
rs758943884
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)
|
rs750441217
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met)
|
rs760834878
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)
|
rs753477563
|
0.00002
|
|
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=)
|
rs372404252
|
0.00002
|
|
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)
|
rs769746256
|
0.00002
|
|
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)
|
rs193920818
|
0.00002
|
|
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)
|
rs778273828
|
0.00002
|
|
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)
|
rs779279429
|
0.00002
|
|
NM_003384.3(VRK1):c.1065A>C (p.Thr355=)
|
rs765863043
|
0.00002
|
|
NM_003384.3(VRK1):c.1124G>A (p.Trp375Ter)
|
rs184887106
|
0.00002
|
|
NM_003384.3(VRK1):c.1164A>C (p.Ser388=)
|
rs760801260
|
0.00002
|
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
|
NM_003384.3(VRK1):c.327T>G (p.Gly109=)
|
rs560242666
|
0.00002
|
|
NM_003384.3(VRK1):c.39C>T (p.Ser13=)
|
rs759767615
|
0.00002
|
|
NM_003384.3(VRK1):c.462C>T (p.Val154=)
|
rs757654085
|
0.00002
|
|
NM_003477.3(PDHX):c.511G>A (p.Val171Ile)
|
rs142256229
|
0.00002
|
|
NM_003597.5(KLF11):c.*1320G>A
|
rs555032852
|
0.00002
|
|
NM_003597.5(KLF11):c.*2081C>T
|
rs886054736
|
0.00002
|
|
NM_003597.5(KLF11):c.*954C>G
|
rs886054728
|
0.00002
|
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
|
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)
|
rs375265808
|
0.00002
|
|
NM_003619.4(PRSS12):c.*1573G>A
|
rs931601172
|
0.00002
|
|
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile)
|
rs781361976
|
0.00002
|
|
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile)
|
rs772380740
|
0.00002
|
|
NM_004130.4(GYG1):c.249G>A (p.Thr83=)
|
rs772195768
|
0.00002
|
|
NM_004130.4(GYG1):c.7+1G>A
|
rs949456055
|
0.00002
|
|
NM_004130.4(GYG1):c.755T>C (p.Ile252Thr)
|
rs552267180
|
0.00002
|
|
NM_004130.4(GYG1):c.918G>A (p.Gly306=)
|
rs373972032
|
0.00002
|
|
NM_004830.4(MED23):c.2832dup (p.Val945fs)
|
rs771485728
|
0.00002
|
|
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
|
rs759865842
|
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_005271.5(GLUD1):c.55C>T (p.Leu19=)
|
rs892387294
|
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_005566.4(LDHA):c.*835A>G
|
rs886048092
|
0.00002
|
|
NM_005566.4(LDHA):c.-24-10C>G
|
rs200267888
|
0.00002
|
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
|
NM_005566.4(LDHA):c.39A>C (p.Leu13=)
|
rs371221146
|
0.00002
|
|
NM_005609.4(PYGM):c.1093-5G>A
|
rs745663647
|
0.00002
|
|
NM_005609.4(PYGM):c.1194G>A (p.Pro398=)
|
rs771508536
|
0.00002
|
|
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
|
rs781394907
|
0.00002
|
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
|
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys)
|
rs758774720
|
0.00002
|
|
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr)
|
rs746021869
|
0.00002
|
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
|
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
|
rs769805782
|
0.00002
|
|
NM_005609.4(PYGM):c.1519-7C>T
|
rs775468145
|
0.00002
|
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
|
NM_005609.4(PYGM):c.178G>A (p.Val60Met)
|
rs765962705
|
0.00002
|
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00002
|
|
NM_005609.4(PYGM):c.1869C>T (p.Leu623=)
|
rs144764922
|
0.00002
|
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
|
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)
|
rs771016457
|
0.00002
|
|
NM_005609.4(PYGM):c.1941G>A (p.Glu647=)
|
rs754483073
|
0.00002
|
|
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter)
|
rs114073621
|
0.00002
|
|
NM_005609.4(PYGM):c.2010G>A (p.Ala670=)
|
rs774235610
|
0.00002
|
|
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
|
rs755716626
|
0.00002
|
|
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)
|
rs765656412
|
0.00002
|
|
NM_005609.4(PYGM):c.2055C>T (p.Asn685=)
|
rs755381729
|
0.00002
|
|
NM_005609.4(PYGM):c.2067C>G (p.Thr689=)
|
rs1021120134
|
0.00002
|
|
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg)
|
rs768604948
|
0.00002
|
|
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
|
rs984250045
|
0.00002
|
|
NM_005609.4(PYGM):c.2312+16C>T
|
rs184694130
|
0.00002
|
|
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys)
|
rs1014177089
|
0.00002
|
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
|
NM_005609.4(PYGM):c.2463T>C (p.Tyr821=)
|
rs1236553650
|
0.00002
|
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
|
NM_005609.4(PYGM):c.31A>C (p.Arg11=)
|
rs776312721
|
0.00002
|
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
|
NM_005609.4(PYGM):c.345+8T>G
|
rs766800006
|
0.00002
|
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00002
|
|
NM_005609.4(PYGM):c.402C>T (p.Asn134=)
|
rs372262267
|
0.00002
|
|
NM_005609.4(PYGM):c.468T>C (p.Tyr156=)
|
rs139815072
|
0.00002
|
|
NM_005609.4(PYGM):c.474C>T (p.Tyr158=)
|
rs766020669
|
0.00002
|
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
|
NM_005609.4(PYGM):c.585C>T (p.Pro195=)
|
rs1469910376
|
0.00002
|
|
NM_005609.4(PYGM):c.594G>A (p.Thr198=)
|
rs1386180219
|
0.00002
|
|
NM_005609.4(PYGM):c.615C>A (p.Gly205=)
|
rs781010056
|
0.00002
|
|
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
|
rs753533515
|
0.00002
|
|
NM_005609.4(PYGM):c.661-10C>T
|
rs759810824
|
0.00002
|
|
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)
|
rs768576604
|
0.00002
|
|
NM_005609.4(PYGM):c.81G>A (p.Glu27=)
|
rs758383567
|
0.00002
|
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
|
NM_005609.4(PYGM):c.999+10G>A
|
rs199638571
|
0.00002
|
|
NM_005908.4(MANBA):c.*447G>A
|
rs1025033156
|
0.00002
|
|
NM_005908.4(MANBA):c.*516T>C
|
rs562838260
|
0.00002
|
|
NM_005908.4(MANBA):c.123C>A (p.Pro41=)
|
rs769798393
|
0.00002
|
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
|
NM_005908.4(MANBA):c.1339C>T (p.Pro447Ser)
|
rs755785845
|
0.00002
|
|
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly)
|
rs201830848
|
0.00002
|
|
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys)
|
rs1578882546
|
0.00002
|
|
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu)
|
rs542071291
|
0.00002
|
|
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu)
|
rs772091430
|
0.00002
|
|
NM_005908.4(MANBA):c.2019C>T (p.Tyr673=)
|
rs759861033
|
0.00002
|
|
NM_005908.4(MANBA):c.2158-2A>G
|
rs772852668
|
0.00002
|
|
NM_005908.4(MANBA):c.2389G>A (p.Val797Met)
|
rs747236675
|
0.00002
|
|
NM_005908.4(MANBA):c.2416-9del
|
rs1345228065
|
0.00002
|
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
|
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser)
|
rs202004084
|
0.00002
|
|
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)
|
rs374377679
|
0.00002
|
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
0.00002
|
|
NM_005908.4(MANBA):c.552G>A (p.Glu184=)
|
rs1393310114
|
0.00002
|
|
NM_005908.4(MANBA):c.693G>A (p.Trp231Ter)
|
rs763849774
|
0.00002
|
|
NM_005908.4(MANBA):c.708G>A (p.Glu236=)
|
rs769969734
|
0.00002
|
|
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
|
rs762887276
|
0.00002
|
|
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys)
|
rs774776210
|
0.00002
|
|
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)
|
rs776037433
|
0.00002
|
|
NM_006488.3(KHK):c.*28T>C
|
rs745543858
|
0.00002
|
|
NM_006488.3(KHK):c.*49C>T
|
rs776688675
|
0.00002
|
|
NM_006488.3(KHK):c.-15T>G
|
rs763655731
|
0.00002
|
|
NM_006488.3(KHK):c.210-283C>T
|
rs886055886
|
0.00002
|
|
NM_006516.2(SLC2A1):c.-225T>G
|
rs886046343
|
0.00002
|
|
NM_006516.2(SLC2A1):c.-242C>T
|
rs561646847
|
0.00002
|
|
NM_006516.4(SLC2A1):c.*285C>T
|
rs144947295
|
0.00002
|
|
NM_006516.4(SLC2A1):c.*514G>T
|
rs886046339
|
0.00002
|
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
|
NM_006516.4(SLC2A1):c.1107C>T (p.Ile369=)
|
rs145962512
|
0.00002
|
|
NM_006516.4(SLC2A1):c.1278+9C>G
|
rs550156548
|
0.00002
|
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
|
NM_006516.4(SLC2A1):c.495C>T (p.Val165=)
|
rs181115612
|
0.00002
|
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
|
NM_006516.4(SLC2A1):c.708C>T (p.Asp236=)
|
rs566497194
|
0.00002
|
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
|
NM_006516.4(SLC2A1):c.798C>T (p.Pro266=)
|
rs201996220
|
0.00002
|
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
|
NM_006569.6(CGREF1):c.*570G>A
|
rs1459521395
|
0.00002
|
|
NM_006721.4(ADK):c.*337T>G
|
rs886047238
|
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_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
|
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys)
|
rs370733771
|
0.00002
|
|
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs)
|
rs180177316
|
0.00002
|
|
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu)
|
rs74692381
|
0.00002
|
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
|
NM_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
|
NM_012434.5(SLC17A5):c.*1566G>A
|
rs886061726
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1018T>C (p.Leu340=)
|
rs1353171390
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)
|
rs751011039
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1351-8C>T
|
rs770108730
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)
|
rs201009218
|
0.00002
|
|
NM_012434.5(SLC17A5):c.1487G>A (p.Ter496=)
|
rs1041214397
|
0.00002
|
|
NM_012434.5(SLC17A5):c.21C>T (p.Asp7=)
|
rs368359854
|
0.00002
|
|
NM_012434.5(SLC17A5):c.291+8C>A
|
rs766856558
|
0.00002
|
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
|
NM_012434.5(SLC17A5):c.292-4G>A
|
rs370580788
|
0.00002
|
|
NM_012434.5(SLC17A5):c.39C>A (p.Gly13=)
|
rs150836846
|
0.00002
|
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
|
NM_012434.5(SLC17A5):c.510A>C (p.Leu170=)
|
rs971021026
|
0.00002
|
|
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu)
|
rs138041282
|
0.00002
|
|
NM_014026.6(DCPS):c.636+1G>A
|
rs770528538
|
0.00002
|
|
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His)
|
rs753457122
|
0.00002
|
|
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp)
|
rs756124282
|
0.00002
|
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
|
NM_016042.4(EXOSC3):c.783G>A (p.Thr261=)
|
rs376325566
|
0.00002
|
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1005+13A>G
|
rs770683071
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1107-7C>T
|
rs775881497
|
0.00002
|
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
|
NM_016203.4(PRKAG2):c.129C>T (p.Phe43=)
|
rs770946241
|
0.00002
|
|
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)
|
rs373477232
|
0.00002
|
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1437+7A>G
|
rs1489894918
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
|
rs752198913
|
0.00002
|
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
|
NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)
|
rs759893229
|
0.00002
|
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
|
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)
|
rs764742900
|
0.00002
|
|
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg)
|
rs886062101
|
0.00002
|
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
|
NM_016203.4(PRKAG2):c.618G>A (p.Pro206=)
|
rs145827515
|
0.00002
|
|
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu)
|
rs749753053
|
0.00002
|
|
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser)
|
rs757556996
|
0.00002
|
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
|
NM_016203.4(PRKAG2):c.754+15C>T
|
rs760796110
|
0.00002
|
|
NM_016219.5(MAN1B1):c.*259G>A
|
rs886063732
|
0.00002
|
|
NM_016219.5(MAN1B1):c.*489G>A
|
rs572418621
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
|
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser)
|
rs760557104
|
0.00002
|
|
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu)
|
rs754917525
|
0.00002
|
|
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=)
|
rs779234844
|
0.00002
|
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
|
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=)
|
rs764332216
|
0.00002
|
|
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=)
|
rs752442068
|
0.00002
|
|
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg)
|
rs201673635
|
0.00002
|
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00002
|
|
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)
|
rs762093598
|
0.00002
|
|
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=)
|
rs752702755
|
0.00002
|
|
NM_017755.6(NSUN2):c.255-4A>G
|
rs201837443
|
0.00002
|
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
|
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)
|
rs113810922
|
0.00002
|
|
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
|
rs757712371
|
0.00002
|
|
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
|
rs763397227
|
0.00002
|
|
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp)
|
rs761634625
|
0.00002
|
|
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)
|
rs749767366
|
0.00002
|
|
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile)
|
rs745663188
|
0.00002
|
|
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)
|
rs745990822
|
0.00002
|
|
NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
|
rs201855039
|
0.00002
|
|
NM_021957.4(GYS2):c.1362C>T (p.Asp454=)
|
rs144580757
|
0.00002
|
|
NM_021957.4(GYS2):c.241T>A (p.Cys81Ser)
|
rs146200724
|
0.00002
|
|
NM_021957.4(GYS2):c.756T>C (p.Ala252=)
|
rs886049159
|
0.00002
|
|
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)
|
rs758805684
|
0.00002
|
|
NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu)
|
rs1233952774
|
0.00002
|
|
NM_024298.5(MBOAT7):c.854+8G>A
|
rs751520193
|
0.00002
|
|
NM_024989.4(PGAP1):c.1729-4C>T
|
rs375994131
|
0.00002
|
|
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)
|
rs200637575
|
0.00002
|
|
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)
|
rs758283563
|
0.00002
|
|
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)
|
rs771720370
|
0.00002
|
|
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)
|
rs771798393
|
0.00002
|
|
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)
|
rs1176534322
|
0.00002
|
|
NM_024989.4(PGAP1):c.876G>A (p.Gln292=)
|
rs1702308428
|
0.00002
|
|
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)
|
rs753445500
|
0.00002
|
|
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser)
|
rs531364402
|
0.00002
|
|
NM_031229.4(RBCK1):c.1398C>T (p.Thr466=)
|
rs532857178
|
0.00002
|
|
NM_031229.4(RBCK1):c.1446C>T (p.Gly482=)
|
rs749891698
|
0.00002
|
|
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu)
|
rs751582683
|
0.00002
|
|
NM_031229.4(RBCK1):c.180C>T (p.Ser60=)
|
rs757115540
|
0.00002
|
|
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
|
rs778995926
|
0.00002
|
|
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly)
|
rs747821371
|
0.00002
|
|
NM_031229.4(RBCK1):c.576C>T (p.Pro192=)
|
rs976327623
|
0.00002
|
|
NM_031229.4(RBCK1):c.663C>G (p.Pro221=)
|
rs750427179
|
0.00002
|
|
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg)
|
rs905456806
|
0.00002
|
|
NM_031229.4(RBCK1):c.757-10G>T
|
rs1472775469
|
0.00002
|
|
NM_031229.4(RBCK1):c.757-16C>A
|
rs1203285203
|
0.00002
|
|
NM_031229.4(RBCK1):c.917+15C>T
|
rs963667842
|
0.00002
|
|
NM_031229.4(RBCK1):c.993G>A (p.Ser331=)
|
rs750664557
|
0.00002
|
|
NM_031466.8(TRAPPC9):c.-249C>T
|
rs1446002001
|
0.00002
|
|
NM_033159.4(HYAL1):c.1209C>T (p.Ala403=)
|
rs1553712428
|
0.00002
|
|
NM_033159.4(HYAL1):c.171T>C (p.Asp57=)
|
rs587709776
|
0.00002
|
|
NM_033159.4(HYAL1):c.219T>C (p.Ile73=)
|
rs782696394
|
0.00002
|
|
NM_033159.4(HYAL1):c.231C>T (p.Ser77=)
|
rs781826964
|
0.00002
|
|
NM_033159.4(HYAL1):c.276G>A (p.Val92=)
|
rs373545891
|
0.00002
|
|
NM_033159.4(HYAL1):c.408C>A (p.Arg136=)
|
rs782343934
|
0.00002
|
|
NM_033159.4(HYAL1):c.449G>A (p.Arg150His)
|
rs782788446
|
0.00002
|
|
NM_033159.4(HYAL1):c.570G>A (p.Gly190=)
|
rs782343493
|
0.00002
|
|
NM_033159.4(HYAL1):c.615T>C (p.Pro205=)
|
rs782722149
|
0.00002
|
|
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn)
|
rs376502179
|
0.00002
|
|
NM_033159.4(HYAL1):c.747C>T (p.Pro249=)
|
rs139187462
|
0.00002
|
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
|
NM_033159.4(HYAL1):c.987C>G (p.Thr329=)
|
rs368220900
|
0.00002
|
|
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)
|
rs761121808
|
0.00002
|
|
NM_053013.4(ENO3):c.554G>T (p.Gly185Val)
|
rs200324278
|
0.00002
|
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
|
NM_138413.4(HOGA1):c.*109C>T
|
rs534886813
|
0.00002
|
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
|
NM_138413.4(HOGA1):c.331G>A (p.Gly111Arg)
|
rs200529020
|
0.00002
|
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
|
NM_138413.4(HOGA1):c.39G>A (p.Gly13=)
|
rs200127255
|
0.00002
|
|
NM_138501.6(TECR):c.161C>G (p.Pro54Arg)
|
rs772297819
|
0.00002
|
|
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)
|
rs372920523
|
0.00002
|
|
NM_144563.3(RPIA):c.527+11T>C
|
rs777127840
|
0.00002
|
|
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)
|
rs747620551
|
0.00002
|
|
NM_152419.3(HGSNAT):c.*619T>C
|
rs1000241712
|
0.00002
|
|
NM_152419.3(HGSNAT):c.*649A>G
|
rs1333110406
|
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_152649.4(MLKL):c.947G>A (p.Gly316Asp)
|
rs375490660
|
0.00002
|
|
NM_175914.5(HNF4A):c.*867G>A
|
rs940169046
|
0.00002
|
|
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)
|
rs758836138
|
0.00002
|
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
|
NM_175914.5(HNF4A):c.131G>A (p.Arg44Gln)
|
rs561302824
|
0.00002
|
|
NM_175914.5(HNF4A):c.658G>A (p.Val220Met)
|
rs202105574
|
0.00002
|
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
|
NM_198586.3(NHLRC1):c.*210T>C
|
rs1370146880
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)
|
rs750935925
|
0.00002
|
|
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)
|
rs752045674
|
0.00002
|
|
NM_198586.3(NHLRC1):c.111G>A (p.Gln37=)
|
rs143893542
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
|
rs200201752
|
0.00002
|
|
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)
|
rs765576968
|
0.00002
|
|
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe)
|
rs553900705
|
0.00002
|
|
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp)
|
rs755232826
|
0.00002
|
|
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)
|
rs774955028
|
0.00002
|
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
|
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
|
rs201476733
|
0.00002
|
|
NM_198586.3(NHLRC1):c.579C>T (p.Ala193=)
|
rs202217857
|
0.00002
|
|
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu)
|
rs753591736
|
0.00002
|
|
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
|
rs747276703
|
0.00002
|
|
NM_000027.3(AGA):c.-94G>A
|
rs886059264
|
0.00001
|
|
NM_000027.4(AGA):c.*48G>A
|
rs752452878
|
0.00001
|
|
NM_000027.4(AGA):c.*635A>G
|
rs1175193567
|
0.00001
|
|
NM_000027.4(AGA):c.*868C>G
|
rs886059258
|
0.00001
|
|
NM_000027.4(AGA):c.1030G>C (p.Asp344His)
|
rs776865078
|
0.00001
|
|
NM_000027.4(AGA):c.115G>A (p.Ala39Thr)
|
rs763326444
|
0.00001
|
|
NM_000027.4(AGA):c.128-14G>A
|
rs769452319
|
0.00001
|
|
NM_000027.4(AGA):c.153C>T (p.Gly51=)
|
rs1404115808
|
0.00001
|
|
NM_000027.4(AGA):c.160C>T (p.Leu54=)
|
rs992715539
|
0.00001
|
|
NM_000027.4(AGA):c.167C>T (p.Ala56Val)
|
rs758886928
|
0.00001
|
|
NM_000027.4(AGA):c.177C>T (p.Ser59=)
|
rs757480668
|
0.00001
|
|
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
|
rs1489211352
|
0.00001
|
|
NM_000027.4(AGA):c.1A>G (p.Met1Val)
|
rs1054938291
|
0.00001
|
|
NM_000027.4(AGA):c.204G>A (p.Gln68=)
|
rs373209495
|
0.00001
|
|
NM_000027.4(AGA):c.219A>G (p.Val73=)
|
rs999695070
|
0.00001
|
|
NM_000027.4(AGA):c.281+18G>A
|
rs376346895
|
0.00001
|
|
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
|
rs753394137
|
0.00001
|
|
NM_000027.4(AGA):c.301G>A (p.Ala101Thr)
|
rs752914246
|
0.00001
|
|
NM_000027.4(AGA):c.362A>G (p.His121Arg)
|
rs1282622869
|
0.00001
|
|
NM_000027.4(AGA):c.38C>T (p.Pro13Leu)
|
rs759832068
|
0.00001
|
|
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
|
rs770240412
|
0.00001
|
|
NM_000027.4(AGA):c.394+10T>G
|
rs781210455
|
0.00001
|
|
NM_000027.4(AGA):c.395-4C>T
|
rs530298258
|
0.00001
|
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
|
NM_000027.4(AGA):c.402A>G (p.Thr134=)
|
rs770449168
|
0.00001
|
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
|
NM_000027.4(AGA):c.473G>A (p.Trp158Ter)
|
rs745976989
|
0.00001
|
|
NM_000027.4(AGA):c.507+8C>T
|
rs1371366618
|
0.00001
|
|
NM_000027.4(AGA):c.508-2A>G
|
rs986682657
|
0.00001
|
|
NM_000027.4(AGA):c.515T>C (p.Ile172Thr)
|
rs745924498
|
0.00001
|
|
NM_000027.4(AGA):c.574A>G (p.Ile192Val)
|
rs189159117
|
0.00001
|
|
NM_000027.4(AGA):c.600T>C (p.Asp200=)
|
rs777128985
|
0.00001
|
|
NM_000027.4(AGA):c.604C>T (p.Arg202Cys)
|
rs764539498
|
0.00001
|
|
NM_000027.4(AGA):c.636C>T (p.Ile212=)
|
rs1384548395
|
0.00001
|
|
NM_000027.4(AGA):c.649C>T (p.His217Tyr)
|
rs763070208
|
0.00001
|
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
|
NM_000027.4(AGA):c.699-5C>T
|
rs1324665450
|
0.00001
|
|
NM_000027.4(AGA):c.705A>G (p.Val235=)
|
rs150175428
|
0.00001
|
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
|
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
|
rs1306999394
|
0.00001
|
|
NM_000027.4(AGA):c.785T>C (p.Ile262Thr)
|
rs772697272
|
0.00001
|
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
|
NM_000027.4(AGA):c.807-15C>T
|
rs746561546
|
0.00001
|
|
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
|
rs1254844989
|
0.00001
|
|
NM_000027.4(AGA):c.837A>C (p.Gly279=)
|
rs368840965
|
0.00001
|
|
NM_000027.4(AGA):c.86del (p.Leu29fs)
|
rs764598121
|
0.00001
|
|
NM_000027.4(AGA):c.894A>G (p.Pro298=)
|
rs760082787
|
0.00001
|
|
NM_000027.4(AGA):c.90C>T (p.Val30=)
|
rs371130120
|
0.00001
|
|
NM_000027.4(AGA):c.918T>C (p.Cys306=)
|
rs749698472
|
0.00001
|
|
NM_000027.4(AGA):c.92T>C (p.Val31Ala)
|
rs886059263
|
0.00001
|
|
NM_000027.4(AGA):c.93C>T (p.Val31=)
|
rs922841572
|
0.00001
|
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
|
NM_000027.4(AGA):c.940G>A (p.Gly314Ser)
|
rs149870867
|
0.00001
|
|
NM_000027.4(AGA):c.941-8G>T
|
rs1458091976
|
0.00001
|
|
NM_000027.4(AGA):c.999C>T (p.Ser333=)
|
rs1479579564
|
0.00001
|
|
NM_000030.3(AGXT):c.*285G>A
|
rs567385270
|
0.00001
|
|
NM_000030.3(AGXT):c.*52C>G
|
rs547538869
|
0.00001
|
|
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
|
rs749568989
|
0.00001
|
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
|
NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro)
|
rs180177165
|
0.00001
|
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
|
NM_000030.3(AGXT):c.125G>A (p.Gly42Glu)
|
rs180177170
|
0.00001
|
|
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn)
|
rs774651961
|
0.00001
|
|
NM_000030.3(AGXT):c.175G>A (p.Glu59Lys)
|
rs767586362
|
0.00001
|
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
|
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala)
|
rs1334695460
|
0.00001
|
|
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr)
|
rs180177192
|
0.00001
|
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
|
NM_000030.3(AGXT):c.358+2T>G
|
rs113681235
|
0.00001
|
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
|
NM_000030.3(AGXT):c.371A>C (p.His124Pro)
|
rs180177211
|
0.00001
|
|
NM_000030.3(AGXT):c.375G>C (p.Pro125=)
|
rs754716643
|
0.00001
|
|
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
|
rs2058975287
|
0.00001
|
|
NM_000030.3(AGXT):c.450G>A (p.Leu150=)
|
rs752385061
|
0.00001
|
|
NM_000030.3(AGXT):c.497T>C (p.Leu166Pro)
|
rs180177230
|
0.00001
|
|
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
|
rs965707125
|
0.00001
|
|
NM_000030.3(AGXT):c.525-1G>A
|
rs180177234
|
0.00001
|
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
|
NM_000030.3(AGXT):c.596-10C>T
|
rs890462970
|
0.00001
|
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
|
NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)
|
rs180177246
|
0.00001
|
|
NM_000030.3(AGXT):c.660C>T (p.Ile220=)
|
rs780078312
|
0.00001
|
|
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr)
|
rs749577985
|
0.00001
|
|
NM_000030.3(AGXT):c.679_680+2del
|
rs180177255
|
0.00001
|
|
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile)
|
rs754037121
|
0.00001
|
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
|
NM_000030.3(AGXT):c.783T>A (p.His261Gln)
|
rs180177269
|
0.00001
|
|
NM_000030.3(AGXT):c.846+1G>T
|
rs180177281
|
0.00001
|
|
NM_000030.3(AGXT):c.846+5A>G
|
rs200916936
|
0.00001
|
|
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
|
rs757494386
|
0.00001
|
|
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys)
|
rs886055841
|
0.00001
|
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
|
NM_000030.3(AGXT):c.942G>A (p.Pro314=)
|
rs553429935
|
0.00001
|
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
|
NM_000030.3(AGXT):c.981C>T (p.Pro327=)
|
rs760409952
|
0.00001
|
|
NM_000035.4(ALDOB):c.*516T>A
|
rs1402343211
|
0.00001
|
|
NM_000035.4(ALDOB):c.-1C>T
|
rs560091436
|
0.00001
|
|
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=)
|
rs546735701
|
0.00001
|
|
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)
|
rs995263904
|
0.00001
|
|
NM_000035.4(ALDOB):c.1035C>T (p.His345=)
|
rs761508514
|
0.00001
|
|
NM_000035.4(ALDOB):c.105A>G (p.Glu35=)
|
rs770470240
|
0.00001
|
|
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
|
rs779217157
|
0.00001
|
|
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
|
rs1218895360
|
0.00001
|
|
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr)
|
rs900220679
|
0.00001
|
|
NM_000035.4(ALDOB):c.113-9C>T
|
rs1831193811
|
0.00001
|
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
|
NM_000035.4(ALDOB):c.147G>A (p.Val49=)
|
rs777794664
|
0.00001
|
|
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln)
|
rs141267935
|
0.00001
|
|
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)
|
rs780352710
|
0.00001
|
|
NM_000035.4(ALDOB):c.201C>T (p.Asp67=)
|
rs1201355810
|
0.00001
|
|
NM_000035.4(ALDOB):c.222C>T (p.Ile74=)
|
rs754735910
|
0.00001
|
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
|
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
|
rs773510589
|
0.00001
|
|
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
|
rs1270747182
|
0.00001
|
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
|
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
|
rs142196987
|
0.00001
|
|
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
|
rs763058812
|
0.00001
|
|
NM_000035.4(ALDOB):c.396A>G (p.Ser132=)
|
rs751964153
|
0.00001
|
|
NM_000035.4(ALDOB):c.399G>A (p.Glu133=)
|
rs1436764381
|
0.00001
|
|
NM_000035.4(ALDOB):c.489T>A (p.Ala163=)
|
rs578048957
|
0.00001
|
|
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr)
|
rs755134927
|
0.00001
|
|
NM_000035.4(ALDOB):c.537G>A (p.Gln179=)
|
rs775053176
|
0.00001
|
|
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys)
|
rs574635615
|
0.00001
|
|
NM_000035.4(ALDOB):c.540+9C>A
|
rs371263581
|
0.00001
|
|
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)
|
rs777601413
|
0.00001
|
|
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter)
|
rs370793608
|
0.00001
|
|
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
|
rs748157721
|
0.00001
|
|
NM_000035.4(ALDOB):c.654T>C (p.Asn218=)
|
rs780943027
|
0.00001
|
|
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)
|
rs777324536
|
0.00001
|
|
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
|
rs761151751
|
0.00001
|
|
NM_000035.4(ALDOB):c.750T>A (p.Ala250=)
|
rs150644101
|
0.00001
|
|
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
|
rs1168325070
|
0.00001
|
|
NM_000035.4(ALDOB):c.873T>A (p.Pro291=)
|
rs765247994
|
0.00001
|
|
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
|
rs541062220
|
0.00001
|
|
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
|
rs1831207922
|
0.00001
|
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
|
NM_000035.4(ALDOB):c.996C>T (p.Ala332=)
|
rs1334639976
|
0.00001
|
|
NM_000046.3(ARSB):c.-1058A>G
|
rs886060802
|
0.00001
|
|
NM_000046.4(ARSB):c.-301G>A
|
rs886060799
|
0.00001
|
|
NM_000046.4(ARSB):c.-507T>C
|
rs886060800
|
0.00001
|
|
NM_000046.5(ARSB):c.*1169T>C
|
rs886060791
|
0.00001
|
|
NM_000046.5(ARSB):c.*2680C>T
|
rs1043901041
|
0.00001
|
|
NM_000046.5(ARSB):c.*2784C>A
|
rs1390008938
|
0.00001
|
|
NM_000046.5(ARSB):c.*2831T>A
|
rs1225906488
|
0.00001
|
|
NM_000046.5(ARSB):c.*3152A>G
|
rs886060779
|
0.00001
|
|
NM_000046.5(ARSB):c.1023C>T (p.Gly341=)
|
rs769067669
|
0.00001
|
|
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
|
rs148067062
|
0.00001
|
|
NM_000046.5(ARSB):c.1142+1G>A
|
rs746396210
|
0.00001
|
|
NM_000046.5(ARSB):c.1142+2T>C
|
rs781510986
|
0.00001
|
|
NM_000046.5(ARSB):c.1143-4C>A
|
rs371644454
|
0.00001
|
|
NM_000046.5(ARSB):c.1143-5T>C
|
rs777189032
|
0.00001
|
|
NM_000046.5(ARSB):c.117C>T (p.Ala39=)
|
rs1191475106
|
0.00001
|
|
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu)
|
rs762979755
|
0.00001
|
|
NM_000046.5(ARSB):c.1214-8C>A
|
rs766561160
|
0.00001
|
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
|
NM_000046.5(ARSB):c.1232C>T (p.Ala411Val)
|
rs554258996
|
0.00001
|
|
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
|
rs1250729156
|
0.00001
|
|
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
|
rs537543103
|
0.00001
|
|
NM_000046.5(ARSB):c.1336+1G>A
|
rs376233975
|
0.00001
|
|
NM_000046.5(ARSB):c.1337-6T>C
|
rs758986089
|
0.00001
|
|
NM_000046.5(ARSB):c.1338C>T (p.Gly446=)
|
rs1165970318
|
0.00001
|
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
|
NM_000046.5(ARSB):c.1350G>C (p.Trp450Cys)
|
rs555785323
|
0.00001
|
|
NM_000046.5(ARSB):c.1366C>T (p.Gln456Ter)
|
rs200188234
|
0.00001
|
|
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
|
rs774111900
|
0.00001
|
|
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
|
rs745885140
|
0.00001
|
|
NM_000046.5(ARSB):c.1419G>A (p.Trp473Ter)
|
rs1234650208
|
0.00001
|
|
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
|
rs758641798
|
0.00001
|
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
|
NM_000046.5(ARSB):c.144C>T (p.Val48=)
|
rs1333402479
|
0.00001
|
|
NM_000046.5(ARSB):c.1453C>G (p.His485Asp)
|
rs751829762
|
0.00001
|
|
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys)
|
rs1226339111
|
0.00001
|
|
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
|
rs767372619
|
0.00001
|
|
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
|
rs1233444230
|
0.00001
|
|
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
|
rs1028337311
|
0.00001
|
|
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
|
rs769716793
|
0.00001
|
|
NM_000046.5(ARSB):c.174C>T (p.Asn58=)
|
rs1753117512
|
0.00001
|
|
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
|
rs1438070050
|
0.00001
|
|
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
|
rs951682570
|
0.00001
|
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
|
NM_000046.5(ARSB):c.222G>C (p.Ala74=)
|
rs1160145148
|
0.00001
|
|
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
|
rs542520705
|
0.00001
|
|
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)
|
rs1271212818
|
0.00001
|
|
NM_000046.5(ARSB):c.245del (p.Leu82fs)
|
rs750845916
|
0.00001
|
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
|
NM_000046.5(ARSB):c.262C>T (p.Gln88Ter)
|
rs1299207831
|
0.00001
|
|
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
|
rs750947605
|
0.00001
|
|
NM_000046.5(ARSB):c.267G>C (p.Pro89=)
|
rs573453966
|
0.00001
|
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
|
NM_000046.5(ARSB):c.276G>A (p.Thr92=)
|
rs1474189742
|
0.00001
|
|
NM_000046.5(ARSB):c.279G>A (p.Pro93=)
|
rs1264986788
|
0.00001
|
|
NM_000046.5(ARSB):c.284G>A (p.Arg95Gln)
|
rs118203942
|
0.00001
|
|
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)
|
rs1554032090
|
0.00001
|
|
NM_000046.5(ARSB):c.312+10G>T
|
rs901158566
|
0.00001
|
|
NM_000046.5(ARSB):c.312+7G>A
|
rs1315861475
|
0.00001
|
|
NM_000046.5(ARSB):c.312G>C (p.Gln104His)
|
rs1478202079
|
0.00001
|
|
NM_000046.5(ARSB):c.313-12T>C
|
rs574816959
|
0.00001
|
|
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
|
rs1024390842
|
0.00001
|
|
NM_000046.5(ARSB):c.328C>T (p.Gln110Ter)
|
rs1554088099
|
0.00001
|
|
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
|
rs762897195
|
0.00001
|
|
NM_000046.5(ARSB):c.349T>C (p.Cys117Arg)
|
rs118203939
|
0.00001
|
|
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
|
rs1421401801
|
0.00001
|
|
NM_000046.5(ARSB):c.429C>T (p.Val143=)
|
rs775488835
|
0.00001
|
|
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg)
|
rs746206847
|
0.00001
|
|
NM_000046.5(ARSB):c.499+10A>G
|
rs779812696
|
0.00001
|
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
|
NM_000046.5(ARSB):c.500-7C>A
|
rs1322794828
|
0.00001
|
|
NM_000046.5(ARSB):c.539G>A (p.Arg180His)
|
rs139788949
|
0.00001
|
|
NM_000046.5(ARSB):c.555C>T (p.Asp185=)
|
rs780886808
|
0.00001
|
|
NM_000046.5(ARSB):c.567C>G (p.Val189=)
|
rs1396554870
|
0.00001
|
|
NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)
|
rs371886102
|
0.00001
|
|
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)
|
rs760875018
|
0.00001
|
|
NM_000046.5(ARSB):c.597C>T (p.Gly199=)
|
rs570750353
|
0.00001
|
|
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys)
|
rs775204710
|
0.00001
|
|
NM_000046.5(ARSB):c.628T>C (p.Tyr210His)
|
rs769313336
|
0.00001
|
|
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
|
rs534594272
|
0.00001
|
|
NM_000046.5(ARSB):c.66C>T (p.Val22=)
|
rs895965810
|
0.00001
|
|
NM_000046.5(ARSB):c.690+11C>T
|
rs1178359653
|
0.00001
|
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
|
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
|
rs1293017800
|
0.00001
|
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
|
NM_000046.5(ARSB):c.726T>C (p.His242=)
|
rs1319944737
|
0.00001
|
|
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)
|
rs576541936
|
0.00001
|
|
NM_000046.5(ARSB):c.753C>T (p.Tyr251=)
|
rs765711776
|
0.00001
|
|
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
|
rs575119903
|
0.00001
|
|
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp)
|
rs1561524845
|
0.00001
|
|
NM_000046.5(ARSB):c.84G>A (p.Leu28=)
|
rs754324013
|
0.00001
|
|
NM_000046.5(ARSB):c.898+7C>T
|
rs573613390
|
0.00001
|
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
|
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
|
rs1215729608
|
0.00001
|
|
NM_000046.5(ARSB):c.934T>C (p.Trp312Arg)
|
rs398123124
|
0.00001
|
|
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln)
|
rs727503809
|
0.00001
|
|
NM_000046.5(ARSB):c.984G>C (p.Gly328=)
|
rs762523255
|
0.00001
|
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
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.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
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.1228A>C (p.Lys410Gln)
|
rs886061907
|
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.1333A>G (p.Lys445Glu)
|
rs1406495040
|
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.1463C>T (p.Pro488Leu)
|
rs121964988
|
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.209T>C (p.Ile70Thr)
|
rs373761188
|
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.419A>G (p.His140Arg)
|
rs767210810
|
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.65A>G (p.His22Arg)
|
rs914629774
|
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_000147.5(FUCA1):c.*527A>G
|
rs886046322
|
0.00001
|
|
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
|
rs769788583
|
0.00001
|
|
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
|
rs749269943
|
0.00001
|
|
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp)
|
rs548735209
|
0.00001
|
|
NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)
|
rs80358199
|
0.00001
|
|
NM_000147.5(FUCA1):c.1251A>C (p.Ser417=)
|
rs897246170
|
0.00001
|
|
NM_000147.5(FUCA1):c.12G>C (p.Pro4=)
|
rs775815377
|
0.00001
|
|
NM_000147.5(FUCA1):c.1326C>T (p.Ile442=)
|
rs924511473
|
0.00001
|
|
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val)
|
rs774128532
|
0.00001
|
|
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys)
|
rs367641377
|
0.00001
|
|
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
|
rs1383407330
|
0.00001
|
|
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser)
|
rs763135982
|
0.00001
|
|
NM_000147.5(FUCA1):c.244C>T (p.Gln82Ter)
|
rs80358196
|
0.00001
|
|
NM_000147.5(FUCA1):c.294G>C (p.Pro98=)
|
rs773469453
|
0.00001
|
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
|
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
|
rs777581303
|
0.00001
|
|
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)
|
rs980153372
|
0.00001
|
|
NM_000147.5(FUCA1):c.390-20T>C
|
rs1460987220
|
0.00001
|
|
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu)
|
rs747625633
|
0.00001
|
|
NM_000147.5(FUCA1):c.465C>T (p.Ser155=)
|
rs563341708
|
0.00001
|
|
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
|
rs550936524
|
0.00001
|
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
|
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)
|
rs148194937
|
0.00001
|
|
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)
|
rs1352828947
|
0.00001
|
|
NM_000147.5(FUCA1):c.525-3A>G
|
rs766757100
|
0.00001
|
|
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
|
rs145537354
|
0.00001
|
|
NM_000147.5(FUCA1):c.551C>G (p.Ser184Ter)
|
rs997047045
|
0.00001
|
|
NM_000147.5(FUCA1):c.658A>C (p.Asn220His)
|
rs755082816
|
0.00001
|
|
NM_000147.5(FUCA1):c.662+9C>T
|
rs1009553855
|
0.00001
|
|
NM_000147.5(FUCA1):c.663-11A>G
|
rs759359539
|
0.00001
|
|
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg)
|
rs770733586
|
0.00001
|
|
NM_000147.5(FUCA1):c.759C>T (p.Ser253=)
|
rs757698879
|
0.00001
|
|
NM_000147.5(FUCA1):c.790C>T (p.Arg264Ter)
|
rs587779399
|
0.00001
|
|
NM_000147.5(FUCA1):c.882G>C (p.Glu294Asp)
|
rs1483687600
|
0.00001
|
|
NM_000147.5(FUCA1):c.903G>A (p.Lys301=)
|
rs1639349703
|
0.00001
|
|
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys)
|
rs773719849
|
0.00001
|
|
NM_000147.5(FUCA1):c.927C>T (p.Asp309=)
|
rs1639347894
|
0.00001
|
|
NM_000147.5(FUCA1):c.933A>C (p.Ala311=)
|
rs1035389960
|
0.00001
|
|
NM_000151.4(G6PC1):c.*1671C>T
|
rs568149292
|
0.00001
|
|
NM_000151.4(G6PC1):c.*211T>C
|
rs886052958
|
0.00001
|
|
NM_000151.4(G6PC1):c.*2134G>A
|
rs886052963
|
0.00001
|
|
NM_000151.4(G6PC1):c.*2847T>C
|
rs139115520
|
0.00001
|
|
NM_000151.4(G6PC1):c.*2981G>T
|
rs886052968
|
0.00001
|
|
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
|
rs373605105
|
0.00001
|
|
NM_000151.4(G6PC1):c.1026C>T (p.Pro342=)
|
rs2056095342
|
0.00001
|
|
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
|
rs1019836830
|
0.00001
|
|
NM_000151.4(G6PC1):c.102C>T (p.Ser34=)
|
rs747426958
|
0.00001
|
|
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
|
rs750975981
|
0.00001
|
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
|
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
|
rs148461633
|
0.00001
|
|
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr)
|
rs781064575
|
0.00001
|
|
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro)
|
rs1057517008
|
0.00001
|
|
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val)
|
rs774215572
|
0.00001
|
|
NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter)
|
rs1567702823
|
0.00001
|
|
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser)
|
rs753502076
|
0.00001
|
|
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
|
rs373545775
|
0.00001
|
|
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
|
rs781714941
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-1G>A
|
rs1555559279
|
0.00001
|
|
NM_000151.4(G6PC1):c.231-3T>C
|
rs1233172989
|
0.00001
|
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
|
NM_000151.4(G6PC1):c.294C>T (p.Ser98=)
|
rs777452219
|
0.00001
|
|
NM_000151.4(G6PC1):c.324C>G (p.Thr108=)
|
rs1282008398
|
0.00001
|
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
|
NM_000151.4(G6PC1):c.341-12C>T
|
rs774885342
|
0.00001
|
|
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)
|
rs1332616844
|
0.00001
|
|
NM_000151.4(G6PC1):c.356A>G (p.His119Arg)
|
rs1401928680
|
0.00001
|
|
NM_000151.4(G6PC1):c.357T>C (p.His119=)
|
rs562533427
|
0.00001
|
|
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
|
rs104894568
|
0.00001
|
|
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
|
rs764401169
|
0.00001
|
|
NM_000151.4(G6PC1):c.447-1G>A
|
rs1411037881
|
0.00001
|
|
NM_000151.4(G6PC1):c.447-4G>A
|
rs756002909
|
0.00001
|
|
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
|
rs369892096
|
0.00001
|
|
NM_000151.4(G6PC1):c.45A>C (p.Ser15=)
|
rs1394010585
|
0.00001
|
|
NM_000151.4(G6PC1):c.490C>T (p.Leu164=)
|
rs987462071
|
0.00001
|
|
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)
|
rs777552825
|
0.00001
|
|
NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro)
|
rs775826449
|
0.00001
|
|
NM_000151.4(G6PC1):c.532C>T (p.Pro178Ser)
|
rs763543607
|
0.00001
|
|
NM_000151.4(G6PC1):c.562+7G>A
|
rs2056082387
|
0.00001
|
|
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)
|
rs374522795
|
0.00001
|
|
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
|
rs1237769909
|
0.00001
|
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
|
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
|
rs1285837426
|
0.00001
|
|
NM_000151.4(G6PC1):c.723C>T (p.Ala241=)
|
rs762967975
|
0.00001
|
|
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter)
|
rs80356485
|
0.00001
|
|
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
|
rs9905900
|
0.00001
|
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
|
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
|
rs748610705
|
0.00001
|
|
NM_000151.4(G6PC1):c.798del (p.Thr267fs)
|
rs749323139
|
0.00001
|
|
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
|
rs755630386
|
0.00001
|
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
|
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
|
rs761361643
|
0.00001
|
|
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr)
|
rs750048146
|
0.00001
|
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
|
NM_000151.4(G6PC1):c.884G>A (p.Arg295His)
|
rs375212414
|
0.00001
|
|
NM_000151.4(G6PC1):c.888C>G (p.Leu296=)
|
rs1266860369
|
0.00001
|
|
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val)
|
rs1310542864
|
0.00001
|
|
NM_000151.4(G6PC1):c.921C>T (p.His307=)
|
rs2056094089
|
0.00001
|
|
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile)
|
rs756241523
|
0.00001
|
|
NM_000152.5(GAA):c.*163G>T
|
rs761668638
|
0.00001
|
|
NM_000152.5(GAA):c.*66G>A
|
rs908570853
|
0.00001
|
|
NM_000152.5(GAA):c.-236C>T
|
rs886053541
|
0.00001
|
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
|
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
|
rs1249705476
|
0.00001
|
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
|
NM_000152.5(GAA):c.1053G>A (p.Val351=)
|
rs773063199
|
0.00001
|
|
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
|
rs2039145288
|
0.00001
|
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
|
NM_000152.5(GAA):c.1068C>T (p.Asp356=)
|
rs751215137
|
0.00001
|
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
|
NM_000152.5(GAA):c.108G>A (p.Leu36=)
|
rs1369758261
|
0.00001
|
|
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
|
rs1555600060
|
0.00001
|
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
|
NM_000152.5(GAA):c.1107G>T (p.Leu369=)
|
rs767807936
|
0.00001
|
|
NM_000152.5(GAA):c.1110C>G (p.Gly370=)
|
rs775172804
|
0.00001
|
|
NM_000152.5(GAA):c.1116C>T (p.His372=)
|
rs760146859
|
0.00001
|
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
|
NM_000152.5(GAA):c.1146T>G (p.Ala382=)
|
rs1259509761
|
0.00001
|
|
NM_000152.5(GAA):c.1161G>C (p.Val387=)
|
rs756211975
|
0.00001
|
|
NM_000152.5(GAA):c.1170C>T (p.Asn390=)
|
rs757174980
|
0.00001
|
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
|
NM_000152.5(GAA):c.1195-4G>T
|
rs886042626
|
0.00001
|
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
|
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
|
rs1555600168
|
0.00001
|
|
NM_000152.5(GAA):c.1200C>G (p.Val400=)
|
rs1431452557
|
0.00001
|
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
|
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
|
rs886042961
|
0.00001
|
|
NM_000152.5(GAA):c.1222A>G (p.Met408Val)
|
rs560575383
|
0.00001
|
|
NM_000152.5(GAA):c.1227C>T (p.Asp409=)
|
rs2039157937
|
0.00001
|
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
|
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs)
|
rs996798292
|
0.00001
|
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
|
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
|
rs761982159
|
0.00001
|
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
|
NM_000152.5(GAA):c.1326+8C>A
|
rs762988038
|
0.00001
|
|
NM_000152.5(GAA):c.1327-2A>G
|
rs1410829147
|
0.00001
|
|
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
|
rs931782061
|
0.00001
|
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
|
NM_000152.5(GAA):c.1438-10C>T
|
rs1029231930
|
0.00001
|
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
|
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg)
|
rs770590394
|
0.00001
|
|
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
|
rs2039213206
|
0.00001
|
|
NM_000152.5(GAA):c.1449G>A (p.Gly483=)
|
rs2039213274
|
0.00001
|
|
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
|
rs774037839
|
0.00001
|
|
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
|
rs1051768479
|
0.00001
|
|
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
|
rs767075458
|
0.00001
|
|
NM_000152.5(GAA):c.1485C>T (p.Ala495=)
|
rs765596792
|
0.00001
|
|
NM_000152.5(GAA):c.1500G>A (p.Glu500=)
|
rs893313279
|
0.00001
|
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
|
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
|
rs150990571
|
0.00001
|
|
NM_000152.5(GAA):c.1551+10G>T
|
rs1002900770
|
0.00001
|
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
|
NM_000152.5(GAA):c.1551+7G>A
|
rs1340464172
|
0.00001
|
|
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)
|
rs786204720
|
0.00001
|
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
|
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala)
|
rs1598582021
|
0.00001
|
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
|
NM_000152.5(GAA):c.1610del (p.Glu537fs)
|
rs762060817
|
0.00001
|
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
|
NM_000152.5(GAA):c.1636+14C>T
|
rs758256318
|
0.00001
|
|
NM_000152.5(GAA):c.1636+7T>C
|
rs1041767114
|
0.00001
|
|
NM_000152.5(GAA):c.1636+9G>A
|
rs200302174
|
0.00001
|
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
|
NM_000152.5(GAA):c.1662G>A (p.Ala554=)
|
rs775954786
|
0.00001
|
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
|
NM_000152.5(GAA):c.1698C>T (p.Ser566=)
|
rs970201201
|
0.00001
|
|
NM_000152.5(GAA):c.172C>T (p.Gln58Ter)
|
rs201185475
|
0.00001
|
|
NM_000152.5(GAA):c.1754+1G>A
|
rs886043399
|
0.00001
|
|
NM_000152.5(GAA):c.1754+8C>T
|
rs1349192080
|
0.00001
|
|
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
|
rs747373179
|
0.00001
|
|
NM_000152.5(GAA):c.1755-11C>T
|
rs752066426
|
0.00001
|
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
|
NM_000152.5(GAA):c.1797C>A (p.Ser599=)
|
rs761377657
|
0.00001
|
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
|
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu)
|
rs374470794
|
0.00001
|
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
|
NM_000152.5(GAA):c.183C>T (p.Ser61=)
|
rs17853995
|
0.00001
|
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
|
NM_000152.5(GAA):c.1857C>T (p.Ser619=)
|
rs914396317
|
0.00001
|
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
|
NM_000152.5(GAA):c.1884G>C (p.Val628=)
|
rs780130036
|
0.00001
|
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
|
NM_000152.5(GAA):c.1889-14C>T
|
rs890806224
|
0.00001
|
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
|
NM_000152.5(GAA):c.1926C>T (p.Val642=)
|
rs1346499760
|
0.00001
|
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
|
NM_000152.5(GAA):c.1943G>A (p.Gly648Asp)
|
rs1448515860
|
0.00001
|
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
|
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
|
rs370737292
|
0.00001
|
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
|
NM_000152.5(GAA):c.1977G>A (p.Val659=)
|
rs751873094
|
0.00001
|
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
|
NM_000152.5(GAA):c.2025C>T (p.Asn675=)
|
rs143951130
|
0.00001
|
|
NM_000152.5(GAA):c.2040+16C>T
|
rs573522544
|
0.00001
|
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
|
NM_000152.5(GAA):c.2040+8G>A
|
rs779647712
|
0.00001
|
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
|
NM_000152.5(GAA):c.2041-14C>T
|
rs1047297951
|
0.00001
|
|
NM_000152.5(GAA):c.2041-17C>T
|
rs746028622
|
0.00001
|
|
NM_000152.5(GAA):c.2041-7C>T
|
rs1212995227
|
0.00001
|
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
|
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
|
rs757802524
|
0.00001
|
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
|
NM_000152.5(GAA):c.2097C>T (p.Leu699=)
|
rs1381174968
|
0.00001
|
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
|
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
|
rs1479318289
|
0.00001
|
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
|
NM_000152.5(GAA):c.2142C>T (p.His714=)
|
rs779462990
|
0.00001
|
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
|
NM_000152.5(GAA):c.2166C>T (p.Thr722=)
|
rs759452172
|
0.00001
|
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
|
NM_000152.5(GAA):c.2259C>T (p.Thr753=)
|
rs2039367115
|
0.00001
|
|
NM_000152.5(GAA):c.2283C>T (p.Ala761=)
|
rs774769974
|
0.00001
|
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
|
NM_000152.5(GAA):c.231A>G (p.Ala77=)
|
rs748580998
|
0.00001
|
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
|
NM_000152.5(GAA):c.234G>T (p.Val78=)
|
rs2039033854
|
0.00001
|
|
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
|
rs752459996
|
0.00001
|
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
|
NM_000152.5(GAA):c.2424G>A (p.Pro808=)
|
rs763272351
|
0.00001
|
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
|
NM_000152.5(GAA):c.2463G>T (p.Gly821=)
|
rs923989221
|
0.00001
|
|
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
|
rs2039389671
|
0.00001
|
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
|
NM_000152.5(GAA):c.2481+12A>G
|
rs773652476
|
0.00001
|
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
|
NM_000152.5(GAA):c.2544C>T (p.Thr848=)
|
rs776487269
|
0.00001
|
|
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
|
rs761608706
|
0.00001
|
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
|
NM_000152.5(GAA):c.2646+11G>A
|
rs1219786295
|
0.00001
|
|
NM_000152.5(GAA):c.2646+8C>A
|
rs773123506
|
0.00001
|
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
|
NM_000152.5(GAA):c.264C>T (p.Ser88=)
|
rs1470933192
|
0.00001
|
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
|
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
|
rs774840779
|
0.00001
|
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
|
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
|
rs1490464728
|
0.00001
|
|
NM_000152.5(GAA):c.2706del (p.Lys903fs)
|
rs1428358278
|
0.00001
|
|
NM_000152.5(GAA):c.270C>T (p.Phe90=)
|
rs768078324
|
0.00001
|
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
|
NM_000152.5(GAA):c.276C>T (p.Cys92=)
|
rs1232001857
|
0.00001
|
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
|
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
|
rs746826091
|
0.00001
|
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
|
NM_000152.5(GAA):c.281_282del (p.Pro94fs)
|
rs1057516503
|
0.00001
|
|
NM_000152.5(GAA):c.2820G>A (p.Ser940=)
|
rs992579033
|
0.00001
|
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
|
NM_000152.5(GAA):c.2844C>T (p.Leu948=)
|
rs774656713
|
0.00001
|
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
|
NM_000152.5(GAA):c.365del (p.Met122fs)
|
rs786204661
|
0.00001
|
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
|
NM_000152.5(GAA):c.372G>A (p.Gln124=)
|
rs899924363
|
0.00001
|
|
NM_000152.5(GAA):c.384C>T (p.Phe128=)
|
rs1021707839
|
0.00001
|
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
|
NM_000152.5(GAA):c.421C>T (p.Leu141=)
|
rs1379595858
|
0.00001
|
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
|
NM_000152.5(GAA):c.42C>G (p.Ala14=)
|
rs141377453
|
0.00001
|
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
|
NM_000152.5(GAA):c.450C>G (p.Ala150=)
|
rs752367410
|
0.00001
|
|
NM_000152.5(GAA):c.456G>T (p.Leu152=)
|
rs1477781307
|
0.00001
|
|
NM_000152.5(GAA):c.459C>G (p.Thr153=)
|
rs751672437
|
0.00001
|
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
|
NM_000152.5(GAA):c.468C>T (p.Thr156=)
|
rs145849611
|
0.00001
|
|
NM_000152.5(GAA):c.471C>T (p.Pro157=)
|
rs551653463
|
0.00001
|
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
|
NM_000152.5(GAA):c.48C>T (p.Cys16=)
|
rs202168804
|
0.00001
|
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
|
NM_000152.5(GAA):c.546+12A>G
|
rs1438157883
|
0.00001
|
|
NM_000152.5(GAA):c.546+7A>C
|
rs1329049814
|
0.00001
|
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
0.00001
|
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
|
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
|
rs771258854
|
0.00001
|
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
|
NM_000152.5(GAA):c.594G>A (p.Pro198=)
|
rs1426823689
|
0.00001
|
|
NM_000152.5(GAA):c.603C>T (p.His201=)
|
rs1442775924
|
0.00001
|
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
|
NM_000152.5(GAA):c.609G>A (p.Arg203=)
|
rs1247872563
|
0.00001
|
|
NM_000152.5(GAA):c.615G>A (p.Pro205=)
|
rs141427808
|
0.00001
|
|
NM_000152.5(GAA):c.621A>G (p.Pro207=)
|
rs772482115
|
0.00001
|
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
|
NM_000152.5(GAA):c.681C>T (p.Asp227=)
|
rs780515378
|
0.00001
|
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
|
NM_000152.5(GAA):c.692+5G>T
|
rs763027848
|
0.00001
|
|
NM_000152.5(GAA):c.692+9T>C
|
rs367661167
|
0.00001
|
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
|
NM_000152.5(GAA):c.715C>T (p.Leu239=)
|
rs778882374
|
0.00001
|
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
|
NM_000152.5(GAA):c.780C>T (p.Leu260=)
|
rs372614893
|
0.00001
|
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
|
NM_000152.5(GAA):c.798C>G (p.Pro266=)
|
rs1598575210
|
0.00001
|
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
|
NM_000152.5(GAA):c.834G>A (p.Leu278=)
|
rs776314424
|
0.00001
|
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
|
NM_000152.5(GAA):c.843G>A (p.Arg281=)
|
rs1221565410
|
0.00001
|
|
NM_000152.5(GAA):c.858+14C>T
|
rs746986703
|
0.00001
|
|
NM_000152.5(GAA):c.859-19C>T
|
rs1331623680
|
0.00001
|
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
|
NM_000152.5(GAA):c.876C>T (p.Tyr292=)
|
rs763216519
|
0.00001
|
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
|
NM_000152.5(GAA):c.909C>T (p.Asp303=)
|
rs752724918
|
0.00001
|
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
|
NM_000152.5(GAA):c.936G>T (p.Leu312=)
|
rs1456154347
|
0.00001
|
|
NM_000152.5(GAA):c.952A>T (p.Met318Leu)
|
rs886044506
|
0.00001
|
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
|
NM_000152.5(GAA):c.996G>A (p.Ser332=)
|
rs779266179
|
0.00001
|
|
NM_000152.5(GAA):c.99T>C (p.His33=)
|
rs144736309
|
0.00001
|
|
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
|
rs1182006462
|
0.00001
|
|
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu)
|
rs766223704
|
0.00001
|
|
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
|
rs749948423
|
0.00001
|
|
NM_000154.2(GALK1):c.1059del (p.Thr354fs)
|
rs2061564118
|
0.00001
|
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
|
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln)
|
rs538714933
|
0.00001
|
|
NM_000154.2(GALK1):c.1101C>T (p.His367=)
|
rs1436958552
|
0.00001
|
|
NM_000154.2(GALK1):c.1107+14A>G
|
rs779926252
|
0.00001
|
|
NM_000154.2(GALK1):c.1107+7G>A
|
rs768625071
|
0.00001
|
|
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
|
rs773416475
|
0.00001
|
|
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
|
rs201811960
|
0.00001
|
|
NM_000154.2(GALK1):c.1137C>T (p.Tyr379=)
|
rs2061561144
|
0.00001
|
|
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser)
|
rs371755069
|
0.00001
|
|
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
|
rs573790143
|
0.00001
|
|
NM_000154.2(GALK1):c.166-1G>C
|
rs142772020
|
0.00001
|
|
NM_000154.2(GALK1):c.183G>A (p.Thr61=)
|
rs1488762066
|
0.00001
|
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
|
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
|
rs754230597
|
0.00001
|
|
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
|
rs752773767
|
0.00001
|
|
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
|
rs572575400
|
0.00001
|
|
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
|
rs2061599258
|
0.00001
|
|
NM_000154.2(GALK1):c.291C>G (p.Arg97=)
|
rs368542855
|
0.00001
|
|
NM_000154.2(GALK1):c.30G>T (p.Ala10=)
|
rs1174194549
|
0.00001
|
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
|
NM_000154.2(GALK1):c.355+9C>A
|
rs1437523931
|
0.00001
|
|
NM_000154.2(GALK1):c.356-10T>C
|
rs1282630071
|
0.00001
|
|
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
|
rs138057626
|
0.00001
|
|
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
|
rs761316738
|
0.00001
|
|
NM_000154.2(GALK1):c.441G>A (p.Val147=)
|
rs780587160
|
0.00001
|
|
NM_000154.2(GALK1):c.475+7G>C
|
rs375660566
|
0.00001
|
|
NM_000154.2(GALK1):c.476-9G>A
|
rs774490771
|
0.00001
|
|
NM_000154.2(GALK1):c.480G>A (p.Ser160=)
|
rs756405600
|
0.00001
|
|
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
|
rs555279924
|
0.00001
|
|
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
|
rs763880577
|
0.00001
|
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
|
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
|
rs771717336
|
0.00001
|
|
NM_000154.2(GALK1):c.611+10G>A
|
rs766858133
|
0.00001
|
|
NM_000154.2(GALK1):c.611+1G>T
|
rs982043960
|
0.00001
|
|
NM_000154.2(GALK1):c.628C>T (p.Leu210=)
|
rs1435062185
|
0.00001
|
|
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
|
rs201939520
|
0.00001
|
|
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
|
rs1487175886
|
0.00001
|
|
NM_000154.2(GALK1):c.699C>T (p.Ser233=)
|
rs1402390213
|
0.00001
|
|
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln)
|
rs575139300
|
0.00001
|
|
NM_000154.2(GALK1):c.744G>A (p.Arg248=)
|
rs774107830
|
0.00001
|
|
NM_000154.2(GALK1):c.748C>T (p.Leu250=)
|
rs904702679
|
0.00001
|
|
NM_000154.2(GALK1):c.759A>G (p.Glu253=)
|
rs1177538590
|
0.00001
|
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
|
NM_000154.2(GALK1):c.793+1G>T
|
rs767790909
|
0.00001
|
|
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
|
rs558638718
|
0.00001
|
|
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)
|
rs959842362
|
0.00001
|
|
NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)
|
rs104894572
|
0.00001
|
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
|
NM_000154.2(GALK1):c.84C>G (p.Pro28=)
|
rs757263223
|
0.00001
|
|
NM_000154.2(GALK1):c.858G>A (p.Arg286=)
|
rs1349483506
|
0.00001
|
|
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
|
rs1337504590
|
0.00001
|
|
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
|
rs763728671
|
0.00001
|
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
|
NM_000154.2(GALK1):c.933C>T (p.His311=)
|
rs759153077
|
0.00001
|
|
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
|
rs1165544582
|
0.00001
|
|
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
|
rs969862473
|
0.00001
|
|
NM_000154.2(GALK1):c.975G>A (p.Leu325=)
|
rs1247403138
|
0.00001
|
|
NM_000154.2(GALK1):c.978C>T (p.Asp326=)
|
rs765769433
|
0.00001
|
|
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
|
rs374440207
|
0.00001
|
|
NM_000154.2(GALK1):c.995C>T (p.Ala332Val)
|
rs886053419
|
0.00001
|
|
NM_000154.2(GALK1):c.996G>A (p.Ala332=)
|
rs1456156062
|
0.00001
|
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
|
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
|
rs759417724
|
0.00001
|
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
|
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp)
|
rs111033815
|
0.00001
|
|
NM_000155.4(GALT):c.1038G>A (p.Gln346=)
|
rs1821202634
|
0.00001
|
|
NM_000155.4(GALT):c.1060-10C>T
|
rs1245856299
|
0.00001
|
|
NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)
|
rs111033824
|
0.00001
|
|
NM_000155.4(GALT):c.1139G>A (p.Ter380=)
|
rs749047676
|
0.00001
|
|
NM_000155.4(GALT):c.142C>T (p.Arg48Cys)
|
rs886042088
|
0.00001
|
|
NM_000155.4(GALT):c.18C>T (p.Thr6=)
|
rs765932955
|
0.00001
|
|
NM_000155.4(GALT):c.199C>T (p.Arg67Cys)
|
rs111033658
|
0.00001
|
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
|
NM_000155.4(GALT):c.252+1G>A
|
rs768154316
|
0.00001
|
|
NM_000155.4(GALT):c.253-6C>T
|
rs753450355
|
0.00001
|
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
|
NM_000155.4(GALT):c.2T>G (p.Met1Arg)
|
rs771702963
|
0.00001
|
|
NM_000155.4(GALT):c.307C>T (p.Gln103Ter)
|
rs1225091358
|
0.00001
|
|
NM_000155.4(GALT):c.315T>C (p.Asp105=)
|
rs1487519949
|
0.00001
|
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
|
NM_000155.4(GALT):c.329-2A>C
|
rs111033667
|
0.00001
|
|
NM_000155.4(GALT):c.329-7A>T
|
rs1320038166
|
0.00001
|
|
NM_000155.4(GALT):c.329-8_329-7dup
|
rs775960045
|
0.00001
|
|
NM_000155.4(GALT):c.366T>G (p.Ala122=)
|
rs777382338
|
0.00001
|
|
NM_000155.4(GALT):c.367C>G (p.Arg123Gly)
|
rs111033674
|
0.00001
|
|
NM_000155.4(GALT):c.377+2dup
|
rs763662108
|
0.00001
|
|
NM_000155.4(GALT):c.378-6A>T
|
rs756647683
|
0.00001
|
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
|
NM_000155.4(GALT):c.379A>G (p.Lys127Glu)
|
rs111033682
|
0.00001
|
|
NM_000155.4(GALT):c.390C>T (p.Cys130=)
|
rs1410761611
|
0.00001
|
|
NM_000155.4(GALT):c.396C>A (p.His132Gln)
|
rs367543256
|
0.00001
|
|
NM_000155.4(GALT):c.425T>A (p.Met142Lys)
|
rs111033695
|
0.00001
|
|
NM_000155.4(GALT):c.443G>A (p.Arg148Gln)
|
rs111033694
|
0.00001
|
|
NM_000155.4(GALT):c.456T>C (p.Asp152=)
|
rs763835338
|
0.00001
|
|
NM_000155.4(GALT):c.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
|
NM_000155.4(GALT):c.496C>G (p.Pro166Ala)
|
rs367543257
|
0.00001
|
|
NM_000155.4(GALT):c.556C>T (p.His186Tyr)
|
rs111033725
|
0.00001
|
|
NM_000155.4(GALT):c.564+7G>A
|
rs760189807
|
0.00001
|
|
NM_000155.4(GALT):c.567A>G (p.Val189=)
|
rs1346797747
|
0.00001
|
|
NM_000155.4(GALT):c.575G>A (p.Ser192Asn)
|
rs111033734
|
0.00001
|
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
|
NM_000155.4(GALT):c.610C>T (p.Arg204Ter)
|
rs111033737
|
0.00001
|
|
NM_000155.4(GALT):c.628A>G (p.Lys210Glu)
|
rs896091797
|
0.00001
|
|
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
|
rs3824553
|
0.00001
|
|
NM_000155.4(GALT):c.663C>T (p.Tyr221=)
|
rs755000603
|
0.00001
|
|
NM_000155.4(GALT):c.678A>G (p.Leu226=)
|
rs777577533
|
0.00001
|
|
NM_000155.4(GALT):c.691C>T (p.Arg231Cys)
|
rs111033749
|
0.00001
|
|
NM_000155.4(GALT):c.692G>A (p.Arg231His)
|
rs111033754
|
0.00001
|
|
NM_000155.4(GALT):c.702A>G (p.Leu234=)
|
rs1767207852
|
0.00001
|
|
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)
|
rs111033755
|
0.00001
|
|
NM_000155.4(GALT):c.753C>T (p.Tyr251=)
|
rs367543261
|
0.00001
|
|
NM_000155.4(GALT):c.760C>T (p.Leu254=)
|
rs532126218
|
0.00001
|
|
NM_000155.4(GALT):c.762G>A (p.Leu254=)
|
rs748639317
|
0.00001
|
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
|
NM_000155.4(GALT):c.773G>A (p.Arg258His)
|
rs773766027
|
0.00001
|
|
NM_000155.4(GALT):c.775C>T (p.Arg259Trp)
|
rs786204763
|
0.00001
|
|
NM_000155.4(GALT):c.787C>T (p.Arg263Trp)
|
rs1448701207
|
0.00001
|
|
NM_000155.4(GALT):c.788G>A (p.Arg263Gln)
|
rs777023967
|
0.00001
|
|
NM_000155.4(GALT):c.795T>G (p.Pro265=)
|
rs762866149
|
0.00001
|
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
|
NM_000155.4(GALT):c.82+15G>A
|
rs752065555
|
0.00001
|
|
NM_000155.4(GALT):c.820+4A>C
|
rs398123186
|
0.00001
|
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
|
NM_000155.4(GALT):c.851C>A (p.Thr284Asn)
|
rs753364304
|
0.00001
|
|
NM_000155.4(GALT):c.875C>T (p.Thr292Met)
|
rs369227288
|
0.00001
|
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
|
NM_000155.4(GALT):c.938G>A (p.Trp313Ter)
|
rs1410159094
|
0.00001
|
|
NM_000155.4(GALT):c.947G>A (p.Trp316Ter)
|
rs111033790
|
0.00001
|
|
NM_000155.4(GALT):c.958G>A (p.Ala320Thr)
|
rs111033795
|
0.00001
|
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
|
NM_000155.4(GALT):c.974C>T (p.Pro325Leu)
|
rs111033794
|
0.00001
|
|
NM_000155.4(GALT):c.975G>A (p.Pro325=)
|
rs762558133
|
0.00001
|
|
NM_000155.4(GALT):c.978C>G (p.Leu326=)
|
rs1341964661
|
0.00001
|
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
|
NM_000155.4(GALT):c.998G>A (p.Arg333Gln)
|
rs111033808
|
0.00001
|
|
NM_000158.4(GBE1):c.*545G>C
|
rs548648836
|
0.00001
|
|
NM_000158.4(GBE1):c.-6C>G
|
rs1197683058
|
0.00001
|
|
NM_000158.4(GBE1):c.102C>T (p.Ile34=)
|
rs764543442
|
0.00001
|
|
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
|
rs1559712501
|
0.00001
|
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
|
NM_000158.4(GBE1):c.1083C>T (p.Ser361=)
|
rs377496485
|
0.00001
|
|
NM_000158.4(GBE1):c.1108+8A>T
|
rs961583898
|
0.00001
|
|
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
|
rs770335349
|
0.00001
|
|
NM_000158.4(GBE1):c.112T>C (p.Leu38=)
|
rs1050660548
|
0.00001
|
|
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
|
rs1385414901
|
0.00001
|
|
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
|
rs932010631
|
0.00001
|
|
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met)
|
rs751619568
|
0.00001
|
|
NM_000158.4(GBE1):c.1206G>A (p.Thr402=)
|
rs764245033
|
0.00001
|
|
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
|
rs1703871141
|
0.00001
|
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
|
NM_000158.4(GBE1):c.1239del (p.Asp413fs)
|
rs758504480
|
0.00001
|
|
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
|
rs543823734
|
0.00001
|
|
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
|
rs781086301
|
0.00001
|
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
|
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
|
rs532448572
|
0.00001
|
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
|
NM_000158.4(GBE1):c.1336-10T>G
|
rs749266678
|
0.00001
|
|
NM_000158.4(GBE1):c.143+9G>A
|
rs1267149365
|
0.00001
|
|
NM_000158.4(GBE1):c.1434G>A (p.Glu478=)
|
rs561832348
|
0.00001
|
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
|
NM_000158.4(GBE1):c.1446+18T>C
|
rs1013562114
|
0.00001
|
|
NM_000158.4(GBE1):c.1446+7G>T
|
rs1181307533
|
0.00001
|
|
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
|
rs748594311
|
0.00001
|
|
NM_000158.4(GBE1):c.1491C>T (p.Ala497=)
|
rs778539439
|
0.00001
|
|
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
|
rs779711697
|
0.00001
|
|
NM_000158.4(GBE1):c.1572A>G (p.Arg524=)
|
rs779517065
|
0.00001
|
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
|
NM_000158.4(GBE1):c.1587G>A (p.Gly529=)
|
rs1324484445
|
0.00001
|
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
|
NM_000158.4(GBE1):c.1618+4A>G
|
rs763962659
|
0.00001
|
|
NM_000158.4(GBE1):c.1619-16G>A
|
rs546023161
|
0.00001
|
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
|
NM_000158.4(GBE1):c.1635T>C (p.His545=)
|
rs780741533
|
0.00001
|
|
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)
|
rs137852894
|
0.00001
|
|
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe)
|
rs544404712
|
0.00001
|
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
|
NM_000158.4(GBE1):c.1662A>G (p.Lys554=)
|
rs752672762
|
0.00001
|
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
|
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)
|
rs774619760
|
0.00001
|
|
NM_000158.4(GBE1):c.169A>G (p.Lys57Glu)
|
rs772910188
|
0.00001
|
|
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn)
|
rs775980435
|
0.00001
|
|
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
|
rs922718313
|
0.00001
|
|
NM_000158.4(GBE1):c.1791T>C (p.Leu597=)
|
rs968014009
|
0.00001
|
|
NM_000158.4(GBE1):c.1803+2T>C
|
rs539203557
|
0.00001
|
|
NM_000158.4(GBE1):c.1804-20A>G
|
rs751552216
|
0.00001
|
|
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
|
rs765577833
|
0.00001
|
|
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
|
rs760015364
|
0.00001
|
|
NM_000158.4(GBE1):c.1823_1824del (p.His608fs)
|
rs1175447973
|
0.00001
|
|
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
|
rs1473296120
|
0.00001
|
|
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)
|
rs769567764
|
0.00001
|
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
|
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)
|
rs766935302
|
0.00001
|
|
NM_000158.4(GBE1):c.1935-7G>T
|
rs1474858058
|
0.00001
|
|
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
|
rs527789602
|
0.00001
|
|
NM_000158.4(GBE1):c.1977G>A (p.Gly659=)
|
rs764925200
|
0.00001
|
|
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
|
rs774275405
|
0.00001
|
|
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
|
rs1250842116
|
0.00001
|
|
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)
|
rs368256869
|
0.00001
|
|
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
0.00001
|
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
|
NM_000158.4(GBE1):c.2053-10T>G
|
rs1576117487
|
0.00001
|
|
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val)
|
rs1257283055
|
0.00001
|
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
|
NM_000158.4(GBE1):c.2093T>C (p.Val698Ala)
|
rs1195429833
|
0.00001
|
|
NM_000158.4(GBE1):c.2103G>A (p.Pro701=)
|
rs775617188
|
0.00001
|
|
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)
|
rs1400238963
|
0.00001
|
|
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
|
rs755590449
|
0.00001
|
|
NM_000158.4(GBE1):c.287A>G (p.Glu96Gly)
|
rs1705760375
|
0.00001
|
|
NM_000158.4(GBE1):c.313+9T>C
|
rs772444966
|
0.00001
|
|
NM_000158.4(GBE1):c.327A>G (p.Pro109=)
|
rs1200105843
|
0.00001
|
|
NM_000158.4(GBE1):c.351G>T (p.Leu117=)
|
rs749666538
|
0.00001
|
|
NM_000158.4(GBE1):c.370C>T (p.Leu124=)
|
rs1383085103
|
0.00001
|
|
NM_000158.4(GBE1):c.42C>G (p.Tyr14Ter)
|
rs1328296506
|
0.00001
|
|
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
|
rs751739447
|
0.00001
|
|
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
|
rs763302311
|
0.00001
|
|
NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)
|
rs1559676007
|
0.00001
|
|
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
|
rs1054018717
|
0.00001
|
|
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys)
|
rs771447249
|
0.00001
|
|
NM_000158.4(GBE1):c.492G>A (p.Val164=)
|
rs1375785515
|
0.00001
|
|
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu)
|
rs1327623597
|
0.00001
|
|
NM_000158.4(GBE1):c.555+7A>G
|
rs766695292
|
0.00001
|
|
NM_000158.4(GBE1):c.563A>C (p.His188Pro)
|
rs773558446
|
0.00001
|
|
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
|
rs762329960
|
0.00001
|
|
NM_000158.4(GBE1):c.609T>C (p.His203=)
|
rs1202435927
|
0.00001
|
|
NM_000158.4(GBE1):c.648T>C (p.Tyr216=)
|
rs1295929595
|
0.00001
|
|
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
|
rs756999152
|
0.00001
|
|
NM_000158.4(GBE1):c.660A>G (p.Thr220=)
|
rs527746026
|
0.00001
|
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
|
NM_000158.4(GBE1):c.709T>C (p.Leu237=)
|
rs886038263
|
0.00001
|
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
|
NM_000158.4(GBE1):c.783-8A>G
|
rs1019962210
|
0.00001
|
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
|
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
|
rs559653237
|
0.00001
|
|
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly)
|
rs1236771685
|
0.00001
|
|
NM_000158.4(GBE1):c.895G>T (p.Gly299Ter)
|
rs779475367
|
0.00001
|
|
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
|
rs539925873
|
0.00001
|
|
NM_000158.4(GBE1):c.924C>T (p.Ser308=)
|
rs765783805
|
0.00001
|
|
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)
|
rs767100121
|
0.00001
|
|
NM_000158.4(GBE1):c.992+8C>T
|
rs779096891
|
0.00001
|
|
NM_000158.4(GBE1):c.993-1G>T
|
rs763016962
|
0.00001
|
|
NM_000162.5(GCK):c.*297T>G
|
rs527259972
|
0.00001
|
|
NM_000162.5(GCK):c.*723A>G
|
rs886062345
|
0.00001
|
|
NM_000162.5(GCK):c.-449G>A
|
rs1375544246
|
0.00001
|
|
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)
|
rs193922260
|
0.00001
|
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
|
NM_000162.5(GCK):c.1248C>T (p.His416=)
|
rs766653778
|
0.00001
|
|
NM_000162.5(GCK):c.1253+12C>T
|
rs768491249
|
0.00001
|
|
NM_000162.5(GCK):c.129C>T (p.Arg43=)
|
rs760912915
|
0.00001
|
|
NM_000162.5(GCK):c.1324G>A (p.Glu442Lys)
|
rs758737171
|
0.00001
|
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
|
NM_000162.5(GCK):c.187C>T (p.Arg63Cys)
|
rs754479025
|
0.00001
|
|
NM_000162.5(GCK):c.35A>G (p.Lys12Arg)
|
rs777958777
|
0.00001
|
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
|
NM_000162.5(GCK):c.580-11C>T
|
rs370016334
|
0.00001
|
|
NM_000162.5(GCK):c.580-1G>A
|
rs1554335421
|
0.00001
|
|
NM_000162.5(GCK):c.609G>A (p.Val203=)
|
rs776703291
|
0.00001
|
|
NM_000162.5(GCK):c.622G>A (p.Ala208Thr)
|
rs1476637197
|
0.00001
|
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
|
NM_000162.5(GCK):c.70C>T (p.Gln24Ter)
|
rs1281712444
|
0.00001
|
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
|
NM_000162.5(GCK):c.823C>T (p.Arg275Cys)
|
rs556436603
|
0.00001
|
|
NM_000162.5(GCK):c.908G>A (p.Arg303Gln)
|
rs1312678560
|
0.00001
|
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
|
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)
|
rs1238884216
|
0.00001
|
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00001
|
|
NM_000175.5(GPI):c.14C>T (p.Thr5Ile)
|
rs267606852
|
0.00001
|
|
NM_000175.5(GPI):c.1574T>C (p.Ile525Thr)
|
rs137853584
|
0.00001
|
|
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)
|
rs547475819
|
0.00001
|
|
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu)
|
rs933668811
|
0.00001
|
|
NM_000175.5(GPI):c.301G>A (p.Val101Met)
|
rs757341382
|
0.00001
|
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
|
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
|
rs536683131
|
0.00001
|
|
NM_000175.5(GPI):c.880G>A (p.Glu294Lys)
|
rs560277140
|
0.00001
|
|
NM_000181.4(GUSB):c.*55C>T
|
rs372605666
|
0.00001
|
|
NM_000181.4(GUSB):c.-19G>C
|
rs771999951
|
0.00001
|
|
NM_000181.4(GUSB):c.1023A>G (p.Lys341=)
|
rs774381911
|
0.00001
|
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
|
NM_000181.4(GUSB):c.1065+4T>C
|
rs778151820
|
0.00001
|
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
|
NM_000181.4(GUSB):c.1212C>T (p.Ile404=)
|
rs375214425
|
0.00001
|
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
|
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)
|
rs763845326
|
0.00001
|
|
NM_000181.4(GUSB):c.1326G>A (p.Ala442=)
|
rs1226319325
|
0.00001
|
|
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)
|
rs1434169374
|
0.00001
|
|
NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)
|
rs121918179
|
0.00001
|
|
NM_000181.4(GUSB):c.1623T>C (p.Tyr541=)
|
rs769788461
|
0.00001
|
|
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter)
|
rs1210475838
|
0.00001
|
|
NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)
|
rs1344332366
|
0.00001
|
|
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)
|
rs769252159
|
0.00001
|
|
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
|
rs150304382
|
0.00001
|
|
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)
|
rs757015172
|
0.00001
|
|
NM_000181.4(GUSB):c.1791A>G (p.Ser597=)
|
rs767115386
|
0.00001
|
|
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
|
rs1325465494
|
0.00001
|
|
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys)
|
rs121918184
|
0.00001
|
|
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
|
rs756035101
|
0.00001
|
|
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
|
rs764493374
|
0.00001
|
|
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp)
|
rs776085845
|
0.00001
|
|
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu)
|
rs948834547
|
0.00001
|
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
|
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
|
rs767239546
|
0.00001
|
|
NM_000181.4(GUSB):c.394G>A (p.Val132Met)
|
rs769151272
|
0.00001
|
|
NM_000181.4(GUSB):c.396+15G>T
|
rs757135258
|
0.00001
|
|
NM_000181.4(GUSB):c.414C>T (p.Asp138=)
|
rs1444763456
|
0.00001
|
|
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp)
|
rs771137253
|
0.00001
|
|
NM_000181.4(GUSB):c.581+16C>T
|
rs768612200
|
0.00001
|
|
NM_000181.4(GUSB):c.581+8C>T
|
rs527730129
|
0.00001
|
|
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
|
rs367989163
|
0.00001
|
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
|
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
|
rs760324067
|
0.00001
|
|
NM_000181.4(GUSB):c.666G>A (p.Thr222=)
|
rs773822519
|
0.00001
|
|
NM_000181.4(GUSB):c.669A>T (p.Thr223=)
|
rs201178083
|
0.00001
|
|
NM_000181.4(GUSB):c.681C>T (p.Tyr227=)
|
rs1791831745
|
0.00001
|
|
NM_000181.4(GUSB):c.760A>C (p.Asn254His)
|
rs150086524
|
0.00001
|
|
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp)
|
rs750955623
|
0.00001
|
|
NM_000181.4(GUSB):c.861C>T (p.Leu287=)
|
rs753430922
|
0.00001
|
|
NM_000181.4(GUSB):c.870G>A (p.Pro290=)
|
rs377665214
|
0.00001
|
|
NM_000181.4(GUSB):c.893C>T (p.Ala298Val)
|
rs1451709678
|
0.00001
|
|
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu)
|
rs757549474
|
0.00001
|
|
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)
|
rs886044680
|
0.00001
|
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
|
NM_000188.3(HK1):c.1720-3C>T
|
rs1256697528
|
0.00001
|
|
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)
|
rs398122379
|
0.00001
|
|
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
|
rs1172702857
|
0.00001
|
|
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
|
rs373871387
|
0.00001
|
|
NM_000188.3(HK1):c.281G>A (p.Arg94Gln)
|
rs1176654400
|
0.00001
|
|
NM_000199.5(SGSH):c.*1098G>A
|
rs886053551
|
0.00001
|
|
NM_000199.5(SGSH):c.*369C>T
|
rs886053557
|
0.00001
|
|
NM_000199.5(SGSH):c.*506C>T
|
rs1011435930
|
0.00001
|
|
NM_000199.5(SGSH):c.*994G>A
|
rs929179426
|
0.00001
|
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
|
NM_000199.5(SGSH):c.1037G>A (p.Arg346Gln)
|
rs367883023
|
0.00001
|
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
|
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
|
rs766102096
|
0.00001
|
|
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)
|
rs1459579613
|
0.00001
|
|
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)
|
rs104894640
|
0.00001
|
|
NM_000199.5(SGSH):c.1108G>A (p.Val370Ile)
|
rs201061563
|
0.00001
|
|
NM_000199.5(SGSH):c.1135del (p.Val379fs)
|
rs777956287
|
0.00001
|
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
|
NM_000199.5(SGSH):c.1145G>A (p.Arg382Gln)
|
rs779661554
|
0.00001
|
|
NM_000199.5(SGSH):c.1147C>A (p.His383Asn)
|
rs922205597
|
0.00001
|
|
NM_000199.5(SGSH):c.114C>T (p.Gly38=)
|
rs2041924510
|
0.00001
|
|
NM_000199.5(SGSH):c.1154G>A (p.Arg385His)
|
rs944844493
|
0.00001
|
|
NM_000199.5(SGSH):c.1158C>T (p.Leu386=)
|
rs765011477
|
0.00001
|
|
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)
|
rs773137508
|
0.00001
|
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
|
NM_000199.5(SGSH):c.1176C>T (p.Phe392=)
|
rs1286662072
|
0.00001
|
|
NM_000199.5(SGSH):c.1185C>T (p.Pro395=)
|
rs1249459941
|
0.00001
|
|
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu)
|
rs772080776
|
0.00001
|
|
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile)
|
rs191465934
|
0.00001
|
|
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)
|
rs1323958195
|
0.00001
|
|
NM_000199.5(SGSH):c.1229A>G (p.Asp410Gly)
|
rs748612821
|
0.00001
|
|
NM_000199.5(SGSH):c.122A>G (p.Asn41Ser)
|
rs2041923714
|
0.00001
|
|
NM_000199.5(SGSH):c.1240C>T (p.Arg414Cys)
|
rs1354462020
|
0.00001
|
|
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)
|
rs778602791
|
0.00001
|
|
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
|
rs767649680
|
0.00001
|
|
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
|
rs766657191
|
0.00001
|
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
|
NM_000199.5(SGSH):c.129C>T (p.Ser43=)
|
rs747247188
|
0.00001
|
|
NM_000199.5(SGSH):c.1304G>A (p.Arg435His)
|
rs370528435
|
0.00001
|
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
|
NM_000199.5(SGSH):c.1311G>A (p.Glu437=)
|
rs995838952
|
0.00001
|
|
NM_000199.5(SGSH):c.1323G>C (p.Arg441=)
|
rs202209795
|
0.00001
|
|
NM_000199.5(SGSH):c.1356C>T (p.Ala452=)
|
rs2041601835
|
0.00001
|
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
|
NM_000199.5(SGSH):c.1404G>A (p.Leu468=)
|
rs368952369
|
0.00001
|
|
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
|
rs1453217230
|
0.00001
|
|
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)
|
rs1064795109
|
0.00001
|
|
NM_000199.5(SGSH):c.1429del (p.Asp477fs)
|
rs781572815
|
0.00001
|
|
NM_000199.5(SGSH):c.1443C>T (p.Cys481=)
|
rs747742566
|
0.00001
|
|
NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr)
|
rs780969693
|
0.00001
|
|
NM_000199.5(SGSH):c.1445C>T (p.Ala482Val)
|
rs376296818
|
0.00001
|
|
NM_000199.5(SGSH):c.1452C>T (p.Asp484=)
|
rs763360021
|
0.00001
|
|
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
|
NM_000199.5(SGSH):c.1458C>T (p.Val486=)
|
rs1458442935
|
0.00001
|
|
NM_000199.5(SGSH):c.1500T>C (p.Asn500=)
|
rs771923742
|
0.00001
|
|
NM_000199.5(SGSH):c.189C>G (p.Ala63=)
|
rs760006618
|
0.00001
|
|
NM_000199.5(SGSH):c.1A>G (p.Met1Val)
|
rs1250300189
|
0.00001
|
|
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr)
|
rs137953179
|
0.00001
|
|
NM_000199.5(SGSH):c.241C>T (p.Leu81=)
|
rs778730409
|
0.00001
|
|
NM_000199.5(SGSH):c.243G>T (p.Leu81=)
|
rs543297521
|
0.00001
|
|
NM_000199.5(SGSH):c.249+10A>G
|
rs1313307206
|
0.00001
|
|
NM_000199.5(SGSH):c.250-14G>A
|
rs777111086
|
0.00001
|
|
NM_000199.5(SGSH):c.250-17T>C
|
rs765488698
|
0.00001
|
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
0.00001
|
|
NM_000199.5(SGSH):c.267C>T (p.Tyr89=)
|
rs1479456289
|
0.00001
|
|
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)
|
rs774010006
|
0.00001
|
|
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu)
|
rs777669364
|
0.00001
|
|
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys)
|
rs755846091
|
0.00001
|
|
NM_000199.5(SGSH):c.2T>C (p.Met1Thr)
|
rs1488660868
|
0.00001
|
|
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser)
|
rs1211675075
|
0.00001
|
|
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
|
NM_000199.5(SGSH):c.330G>A (p.Leu110=)
|
rs547771707
|
0.00001
|
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
|
NM_000199.5(SGSH):c.356-12C>A
|
rs111239087
|
0.00001
|
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
|
NM_000199.5(SGSH):c.363C>T (p.Ile121=)
|
rs2041824137
|
0.00001
|
|
NM_000199.5(SGSH):c.36G>C (p.Leu12=)
|
rs777433840
|
0.00001
|
|
NM_000199.5(SGSH):c.376dup (p.Val126fs)
|
rs1555621971
|
0.00001
|
|
NM_000199.5(SGSH):c.384G>A (p.Pro128=)
|
rs770944273
|
0.00001
|
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
|
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
|
rs1408975480
|
0.00001
|
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
|
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)
|
rs104894638
|
0.00001
|
|
NM_000199.5(SGSH):c.468G>T (p.Lys156Asn)
|
rs780700374
|
0.00001
|
|
NM_000199.5(SGSH):c.486C>T (p.Phe162=)
|
rs371061954
|
0.00001
|
|
NM_000199.5(SGSH):c.503A>C (p.Asp168Ala)
|
rs774333201
|
0.00001
|
|
NM_000199.5(SGSH):c.506+4T>A
|
rs1378763987
|
0.00001
|
|
NM_000199.5(SGSH):c.507-10T>G
|
rs780750001
|
0.00001
|
|
NM_000199.5(SGSH):c.507-10del
|
rs756440573
|
0.00001
|
|
NM_000199.5(SGSH):c.507-6G>A
|
rs751165124
|
0.00001
|
|
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
|
NM_000199.5(SGSH):c.525C>T (p.Val175=)
|
rs1035928326
|
0.00001
|
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
|
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
|
rs372911015
|
0.00001
|
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
|
NM_000199.5(SGSH):c.555C>T (p.His185=)
|
rs1224820918
|
0.00001
|
|
NM_000199.5(SGSH):c.558C>T (p.Ser186=)
|
rs992564098
|
0.00001
|
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
|
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)
|
rs1555621659
|
0.00001
|
|
NM_000199.5(SGSH):c.597C>T (p.Asn199=)
|
rs753030382
|
0.00001
|
|
NM_000199.5(SGSH):c.606C>T (p.Ser202=)
|
rs544509805
|
0.00001
|
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
|
NM_000199.5(SGSH):c.645C>T (p.Tyr215=)
|
rs151227799
|
0.00001
|
|
NM_000199.5(SGSH):c.664-10C>T
|
rs776319554
|
0.00001
|
|
NM_000199.5(SGSH):c.664-12C>T
|
rs750158313
|
0.00001
|
|
NM_000199.5(SGSH):c.664-13C>T
|
rs368107414
|
0.00001
|
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
|
NM_000199.5(SGSH):c.684C>T (p.Asn228=)
|
rs562717448
|
0.00001
|
|
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
|
rs756437160
|
0.00001
|
|
NM_000199.5(SGSH):c.702C>T (p.Ala234=)
|
rs1488422969
|
0.00001
|
|
NM_000199.5(SGSH):c.711C>T (p.Ala237=)
|
rs1288219418
|
0.00001
|
|
NM_000199.5(SGSH):c.729C>T (p.Val243=)
|
rs17854435
|
0.00001
|
|
NM_000199.5(SGSH):c.745+16C>T
|
rs747468287
|
0.00001
|
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
|
NM_000199.5(SGSH):c.773G>A (p.Arg258His)
|
rs549606472
|
0.00001
|
|
NM_000199.5(SGSH):c.777C>T (p.Asp259=)
|
rs761104676
|
0.00001
|
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
|
NM_000199.5(SGSH):c.816C>T (p.Ser272=)
|
rs200485062
|
0.00001
|
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
|
NM_000199.5(SGSH):c.822C>T (p.Asn274=)
|
rs138927823
|
0.00001
|
|
NM_000199.5(SGSH):c.864G>A (p.Pro288=)
|
rs573496328
|
0.00001
|
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
|
NM_000199.5(SGSH):c.886G>T (p.Val296Leu)
|
rs1189287474
|
0.00001
|
|
NM_000199.5(SGSH):c.89-16C>G
|
rs1038460314
|
0.00001
|
|
NM_000199.5(SGSH):c.89-16C>T
|
rs1038460314
|
0.00001
|
|
NM_000199.5(SGSH):c.89-5C>T
|
rs755694982
|
0.00001
|
|
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu)
|
rs776306411
|
0.00001
|
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
|
NM_000199.5(SGSH):c.933C>T (p.Ala311=)
|
rs777957953
|
0.00001
|
|
NM_000199.5(SGSH):c.937G>T (p.Val313Leu)
|
rs769385447
|
0.00001
|
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
|
NM_000199.5(SGSH):c.949+20C>T
|
rs539024687
|
0.00001
|
|
NM_000199.5(SGSH):c.949+7C>T
|
rs1358532856
|
0.00001
|
|
NM_000199.5(SGSH):c.950-12C>T
|
rs1334931070
|
0.00001
|
|
NM_000199.5(SGSH):c.957G>A (p.Thr319=)
|
rs780403434
|
0.00001
|
|
NM_000199.5(SGSH):c.96C>T (p.Asp32=)
|
rs139850991
|
0.00001
|
|
NM_000199.5(SGSH):c.975G>T (p.Trp325Cys)
|
rs201413321
|
0.00001
|
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
|
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu)
|
rs762732038
|
0.00001
|
|
NM_000199.5(SGSH):c.993C>T (p.Pro331=)
|
rs934982826
|
0.00001
|
|
NM_000199.5(SGSH):c.996C>T (p.Ser332=)
|
rs1452808824
|
0.00001
|
|
NM_000199.5(SGSH):c.997T>C (p.Tyr333His)
|
rs924984538
|
0.00001
|
|
NM_000202.8(IDS):c.1007-4C>T
|
rs781947914
|
0.00001
|
|
NM_000202.8(IDS):c.1007-9A>G
|
rs927728129
|
0.00001
|
|
NM_000202.8(IDS):c.103+12G>A
|
rs782156440
|
0.00001
|
|
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn)
|
rs138918423
|
0.00001
|
|
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu)
|
rs782471629
|
0.00001
|
|
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
|
rs782634993
|
0.00001
|
|
NM_000202.8(IDS):c.1128G>A (p.Lys376=)
|
rs1266043821
|
0.00001
|
|
NM_000202.8(IDS):c.1143C>T (p.Leu381=)
|
rs781805300
|
0.00001
|
|
NM_000202.8(IDS):c.114C>T (p.Asn38=)
|
rs149512799
|
0.00001
|
|
NM_000202.8(IDS):c.1164A>G (p.Ser388=)
|
rs782363616
|
0.00001
|
|
NM_000202.8(IDS):c.1180+10A>G
|
rs1173314448
|
0.00001
|
|
NM_000202.8(IDS):c.1181-15C>T
|
rs199965368
|
0.00001
|
|
NM_000202.8(IDS):c.1181-19C>G
|
rs1557337665
|
0.00001
|
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
|
NM_000202.8(IDS):c.1254T>G (p.Val418=)
|
rs1557337653
|
0.00001
|
|
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
|
rs782066597
|
0.00001
|
|
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
|
rs920711197
|
0.00001
|
|
NM_000202.8(IDS):c.13C>T (p.Arg5Trp)
|
rs141900718
|
0.00001
|
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
|
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys)
|
rs782190885
|
0.00001
|
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
0.00001
|
|
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
|
rs782673868
|
0.00001
|
|
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
|
rs1557337565
|
0.00001
|
|
NM_000202.8(IDS):c.18C>T (p.Thr6=)
|
rs369954416
|
0.00001
|
|
NM_000202.8(IDS):c.198A>G (p.Gln66=)
|
rs1557340398
|
0.00001
|
|
NM_000202.8(IDS):c.237G>A (p.Ala79=)
|
rs782183418
|
0.00001
|
|
NM_000202.8(IDS):c.252C>T (p.Cys84=)
|
rs1557340286
|
0.00001
|
|
NM_000202.8(IDS):c.285G>A (p.Arg95=)
|
rs782779732
|
0.00001
|
|
NM_000202.8(IDS):c.289C>A (p.Pro97Thr)
|
rs1557340273
|
0.00001
|
|
NM_000202.8(IDS):c.34T>C (p.Trp12Arg)
|
rs1557340598
|
0.00001
|
|
NM_000202.8(IDS):c.352A>T (p.Thr118Ser)
|
rs2089496220
|
0.00001
|
|
NM_000202.8(IDS):c.419-6T>C
|
rs1243973593
|
0.00001
|
|
NM_000202.8(IDS):c.504T>A (p.Thr168=)
|
rs1557339882
|
0.00001
|
|
NM_000202.8(IDS):c.51G>C (p.Leu17=)
|
rs1352041987
|
0.00001
|
|
NM_000202.8(IDS):c.709-5C>T
|
rs970568454
|
0.00001
|
|
NM_000202.8(IDS):c.785T>A (p.Val262Glu)
|
rs782053689
|
0.00001
|
|
NM_000202.8(IDS):c.807C>T (p.Asp269=)
|
rs1557339297
|
0.00001
|
|
NM_000202.8(IDS):c.889C>T (p.Arg297Cys)
|
rs782408729
|
0.00001
|
|
NM_000202.8(IDS):c.906C>G (p.Ala302=)
|
rs1227669625
|
0.00001
|
|
NM_000202.8(IDS):c.933C>T (p.Val311=)
|
rs782608372
|
0.00001
|
|
NM_000203.5(IDUA):c.1032G>A (p.Ala344=)
|
rs959994477
|
0.00001
|
|
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn)
|
rs368454909
|
0.00001
|
|
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
|
rs769373163
|
0.00001
|
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
|
NM_000203.5(IDUA):c.1056C>T (p.Phe352=)
|
rs776110061
|
0.00001
|
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
|
NM_000203.5(IDUA):c.1074C>T (p.His358=)
|
rs1171720920
|
0.00001
|
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
|
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp)
|
rs1475290359
|
0.00001
|
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
|
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
|
rs768841506
|
0.00001
|
|
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)
|
rs762903007
|
0.00001
|
|
NM_000203.5(IDUA):c.1148G>A (p.Arg383His)
|
rs754949360
|
0.00001
|
|
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
|
rs1244370377
|
0.00001
|
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
|
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
|
rs1455637147
|
0.00001
|
|
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr)
|
rs1157083700
|
0.00001
|
|
NM_000203.5(IDUA):c.1185G>A (p.Leu395=)
|
rs1355543480
|
0.00001
|
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
|
NM_000203.5(IDUA):c.1190-7C>T
|
rs1715175188
|
0.00001
|
|
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter)
|
rs1354690186
|
0.00001
|
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
|
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
|
rs990733414
|
0.00001
|
|
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)
|
rs1465083754
|
0.00001
|
|
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
|
rs1715182456
|
0.00001
|
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
|
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu)
|
rs1197582697
|
0.00001
|
|
NM_000203.5(IDUA):c.1311G>C (p.Ala437=)
|
rs899295679
|
0.00001
|
|
NM_000203.5(IDUA):c.1335C>T (p.Asp445=)
|
rs1358484457
|
0.00001
|
|
NM_000203.5(IDUA):c.1356C>T (p.Arg452=)
|
rs1715191739
|
0.00001
|
|
NM_000203.5(IDUA):c.1389G>A (p.Val463=)
|
rs1207419868
|
0.00001
|
|
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
|
rs1238977070
|
0.00001
|
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
|
NM_000203.5(IDUA):c.1402+1G>T
|
rs398123254
|
0.00001
|
|
NM_000203.5(IDUA):c.1402+9G>T
|
rs748677471
|
0.00001
|
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
|
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)
|
rs761793564
|
0.00001
|
|
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
|
rs4690224
|
0.00001
|
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
|
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys)
|
rs1436395282
|
0.00001
|
|
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
|
rs1715216061
|
0.00001
|
|
NM_000203.5(IDUA):c.1524+1G>A
|
rs1553917483
|
0.00001
|
|
NM_000203.5(IDUA):c.1525-15G>A
|
rs755037135
|
0.00001
|
|
NM_000203.5(IDUA):c.1525-7C>A
|
rs184807155
|
0.00001
|
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
|
NM_000203.5(IDUA):c.1536C>T (p.Ala512=)
|
rs1392263774
|
0.00001
|
|
NM_000203.5(IDUA):c.1551C>T (p.Pro517=)
|
rs892707514
|
0.00001
|
|
NM_000203.5(IDUA):c.1563C>T (p.Gly521=)
|
rs1272602930
|
0.00001
|
|
NM_000203.5(IDUA):c.1566C>T (p.Gly522=)
|
rs1378890744
|
0.00001
|
|
NM_000203.5(IDUA):c.1575C>T (p.Thr525=)
|
rs1715239254
|
0.00001
|
|
NM_000203.5(IDUA):c.158+1G>A
|
rs1264013707
|
0.00001
|
|
NM_000203.5(IDUA):c.158+8C>T
|
rs1210900840
|
0.00001
|
|
NM_000203.5(IDUA):c.159C>T (p.Cys53=)
|
rs758190824
|
0.00001
|
|
NM_000203.5(IDUA):c.1617C>T (p.His539=)
|
rs774854847
|
0.00001
|
|
NM_000203.5(IDUA):c.162C>A (p.Pro54=)
|
rs1378930636
|
0.00001
|
|
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val)
|
rs1171379194
|
0.00001
|
|
NM_000203.5(IDUA):c.1650+10A>G
|
rs751765707
|
0.00001
|
|
NM_000203.5(IDUA):c.1651-7_1651-3dup
|
rs756443835
|
0.00001
|
|
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu)
|
rs778877259
|
0.00001
|
|
NM_000203.5(IDUA):c.1653C>G (p.Val551=)
|
rs367551201
|
0.00001
|
|
NM_000203.5(IDUA):c.1665C>T (p.Arg555=)
|
rs761466989
|
0.00001
|
|
NM_000203.5(IDUA):c.1674C>A (p.Pro558=)
|
rs767943753
|
0.00001
|
|
NM_000203.5(IDUA):c.1716C>G (p.His572Gln)
|
rs1253075699
|
0.00001
|
|
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
|
rs146588560
|
0.00001
|
|
NM_000203.5(IDUA):c.1727+14G>A
|
rs781039620
|
0.00001
|
|
NM_000203.5(IDUA):c.1728-13C>T
|
rs764889867
|
0.00001
|
|
NM_000203.5(IDUA):c.1728-1G>C
|
rs1249951282
|
0.00001
|
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
|
NM_000203.5(IDUA):c.1755C>T (p.Phe585=)
|
rs1457677853
|
0.00001
|
|
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr)
|
rs398123257
|
0.00001
|
|
NM_000203.5(IDUA):c.1785C>T (p.Val595=)
|
rs748579220
|
0.00001
|
|
NM_000203.5(IDUA):c.1794G>A (p.Lys598=)
|
rs770035538
|
0.00001
|
|
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
|
rs200089576
|
0.00001
|
|
NM_000203.5(IDUA):c.1803C>T (p.Thr601=)
|
rs774370803
|
0.00001
|
|
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
|
rs752523518
|
0.00001
|
|
NM_000203.5(IDUA):c.1828+10C>G
|
rs201851203
|
0.00001
|
|
NM_000203.5(IDUA):c.1828+1G>C
|
rs919151683
|
0.00001
|
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
|
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)
|
rs794727240
|
0.00001
|
|
NM_000203.5(IDUA):c.1929G>A (p.Val643=)
|
rs147163995
|
0.00001
|
|
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
|
rs121965022
|
0.00001
|
|
NM_000203.5(IDUA):c.193G>A (p.Val65Ile)
|
rs762406262
|
0.00001
|
|
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu)
|
rs751132616
|
0.00001
|
|
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser)
|
rs970991915
|
0.00001
|
|
NM_000203.5(IDUA):c.198C>G (p.Leu66=)
|
rs773925781
|
0.00001
|
|
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
|
rs750898638
|
0.00001
|
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
|
NM_000203.5(IDUA):c.255C>T (p.Ile85=)
|
rs983913564
|
0.00001
|
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
|
NM_000203.5(IDUA):c.299+1G>T
|
rs398123259
|
0.00001
|
|
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)
|
rs777698606
|
0.00001
|
|
NM_000203.5(IDUA):c.300-5T>C
|
rs760649049
|
0.00001
|
|
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser)
|
rs1340970137
|
0.00001
|
|
NM_000203.5(IDUA):c.303G>C (p.Gly101=)
|
rs753784242
|
0.00001
|
|
NM_000203.5(IDUA):c.31C>G (p.Leu11Val)
|
rs1423609884
|
0.00001
|
|
NM_000203.5(IDUA):c.345C>T (p.Asp115=)
|
rs760987501
|
0.00001
|
|
NM_000203.5(IDUA):c.354G>C (p.Leu118=)
|
rs1207917122
|
0.00001
|
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
|
NM_000203.5(IDUA):c.366G>A (p.Arg122=)
|
rs1428860307
|
0.00001
|
|
NM_000203.5(IDUA):c.369G>A (p.Glu123=)
|
rs1314132117
|
0.00001
|
|
NM_000203.5(IDUA):c.378C>T (p.Leu126=)
|
rs751124890
|
0.00001
|
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
|
NM_000203.5(IDUA):c.386-7G>A
|
rs1047377009
|
0.00001
|
|
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
|
rs1335015335
|
0.00001
|
|
NM_000203.5(IDUA):c.468C>T (p.Val156=)
|
rs763532209
|
0.00001
|
|
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
|
rs1269229840
|
0.00001
|
|
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr)
|
rs762623046
|
0.00001
|
|
NM_000203.5(IDUA):c.504A>C (p.Gly168=)
|
rs1489276333
|
0.00001
|
|
NM_000203.5(IDUA):c.522G>A (p.Lys174=)
|
rs939618645
|
0.00001
|
|
NM_000203.5(IDUA):c.528C>T (p.Asn176=)
|
rs538650622
|
0.00001
|
|
NM_000203.5(IDUA):c.534G>A (p.Glu178=)
|
rs762533612
|
0.00001
|
|
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala)
|
rs766030255
|
0.00001
|
|
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
|
rs1044231895
|
0.00001
|
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
|
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
|
rs758439259
|
0.00001
|
|
NM_000203.5(IDUA):c.571G>C (p.Val191Leu)
|
rs746908649
|
0.00001
|
|
NM_000203.5(IDUA):c.589+1G>A
|
rs1293215555
|
0.00001
|
|
NM_000203.5(IDUA):c.590-10C>T
|
rs1193288754
|
0.00001
|
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
|
NM_000203.5(IDUA):c.609T>C (p.Asp203=)
|
rs1577539347
|
0.00001
|
|
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu)
|
rs756131787
|
0.00001
|
|
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)
|
rs1430681871
|
0.00001
|
|
NM_000203.5(IDUA):c.648G>A (p.Leu216=)
|
rs1289155564
|
0.00001
|
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
|
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)
|
rs745879759
|
0.00001
|
|
NM_000203.5(IDUA):c.672C>T (p.Ser224=)
|
rs1355304778
|
0.00001
|
|
NM_000203.5(IDUA):c.692C>T (p.Ser231Phe)
|
rs933301757
|
0.00001
|
|
NM_000203.5(IDUA):c.693C>T (p.Ser231=)
|
rs529773032
|
0.00001
|
|
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
|
rs1297784711
|
0.00001
|
|
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
|
rs775731864
|
0.00001
|
|
NM_000203.5(IDUA):c.744C>T (p.Phe248=)
|
rs775908560
|
0.00001
|
|
NM_000203.5(IDUA):c.756G>A (p.Ala252=)
|
rs776670337
|
0.00001
|
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
|
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
|
rs1001962975
|
0.00001
|
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
|
NM_000203.5(IDUA):c.789G>A (p.Arg263=)
|
rs1191147769
|
0.00001
|
|
NM_000203.5(IDUA):c.792+7C>A
|
rs1577539934
|
0.00001
|
|
NM_000203.5(IDUA):c.792+9T>C
|
rs1477707256
|
0.00001
|
|
NM_000203.5(IDUA):c.793-4G>T
|
rs773734796
|
0.00001
|
|
NM_000203.5(IDUA):c.793-8G>A
|
rs1360168258
|
0.00001
|
|
NM_000203.5(IDUA):c.801C>T (p.Arg267=)
|
rs751167219
|
0.00001
|
|
NM_000203.5(IDUA):c.810C>T (p.Ile270=)
|
rs1241791378
|
0.00001
|
|
NM_000203.5(IDUA):c.813C>T (p.Ser271=)
|
rs569215528
|
0.00001
|
|
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu)
|
rs536381533
|
0.00001
|
|
NM_000203.5(IDUA):c.822G>A (p.Glu274=)
|
rs1160519179
|
0.00001
|
|
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
|
rs1426919426
|
0.00001
|
|
NM_000203.5(IDUA):c.87del (p.His30fs)
|
rs1193085446
|
0.00001
|
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
|
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
|
rs1257215898
|
0.00001
|
|
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
|
rs1441908136
|
0.00001
|
|
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
|
rs1256735931
|
0.00001
|
|
NM_000203.5(IDUA):c.948G>T (p.Val316=)
|
rs1463496008
|
0.00001
|
|
NM_000203.5(IDUA):c.969G>A (p.Val323=)
|
rs1344410522
|
0.00001
|
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
|
NM_000203.5(IDUA):c.973-4G>A
|
rs745832717
|
0.00001
|
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
|
NM_000208.4(INSR):c.14G>A (p.Gly5Asp)
|
rs886054690
|
0.00001
|
|
NM_000208.4(INSR):c.1610+2T>C
|
rs797045624
|
0.00001
|
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
|
NM_000208.4(INSR):c.624A>G (p.Arg208=)
|
rs759705666
|
0.00001
|
|
NM_000209.4(PDX1):c.208G>A (p.Val70Met)
|
rs1234749777
|
0.00001
|
|
NM_000209.4(PDX1):c.216C>T (p.Pro72=)
|
rs193922353
|
0.00001
|
|
NM_000209.4(PDX1):c.651del (p.Gly218fs)
|
rs776610329
|
0.00001
|
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
|
NM_000262.3(NAGA):c.*268G>A
|
rs886057596
|
0.00001
|
|
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)
|
rs778343270
|
0.00001
|
|
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)
|
rs199980021
|
0.00001
|
|
NM_000262.3(NAGA):c.1102-14C>A
|
rs377439996
|
0.00001
|
|
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
|
rs144771084
|
0.00001
|
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
|
NM_000262.3(NAGA):c.132G>A (p.Glu44=)
|
rs1306749721
|
0.00001
|
|
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)
|
rs886057597
|
0.00001
|
|
NM_000262.3(NAGA):c.443G>A (p.Trp148Ter)
|
rs781137026
|
0.00001
|
|
NM_000262.3(NAGA):c.486C>T (p.Pro162=)
|
rs760003063
|
0.00001
|
|
NM_000262.3(NAGA):c.502+9C>T
|
rs768462917
|
0.00001
|
|
NM_000262.3(NAGA):c.542G>A (p.Arg181His)
|
rs777425990
|
0.00001
|
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
|
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn)
|
rs754849987
|
0.00001
|
|
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr)
|
rs1569457519
|
0.00001
|
|
NM_000262.3(NAGA):c.822G>A (p.Thr274=)
|
rs765604983
|
0.00001
|
|
NM_000262.3(NAGA):c.957+7G>A
|
rs1193330730
|
0.00001
|
|
NM_000263.3(NAGLU):c.-228C>G
|
rs554915381
|
0.00001
|
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
|
NM_000263.4(NAGLU):c.1022-10C>T
|
rs1314987679
|
0.00001
|
|
NM_000263.4(NAGLU):c.1022-4A>G
|
rs748016637
|
0.00001
|
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
|
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
|
rs771833491
|
0.00001
|
|
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
|
rs954871115
|
0.00001
|
|
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg)
|
rs766000735
|
0.00001
|
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
|
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=)
|
rs778956418
|
0.00001
|
|
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
|
rs2092906065
|
0.00001
|
|
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
|
rs1479965895
|
0.00001
|
|
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
|
rs1469438575
|
0.00001
|
|
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
|
rs768600049
|
0.00001
|
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
|
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
|
rs2092906079
|
0.00001
|
|
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter)
|
rs879111128
|
0.00001
|
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
|
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
|
rs752682040
|
0.00001
|
|
NM_000263.4(NAGLU):c.1200del (p.Gln400fs)
|
rs1485628563
|
0.00001
|
|
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr)
|
rs796052122
|
0.00001
|
|
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
|
rs780376108
|
0.00001
|
|
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg)
|
rs768814260
|
0.00001
|
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
|
NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp)
|
rs771151036
|
0.00001
|
|
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)
|
rs1432587285
|
0.00001
|
|
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
|
rs775035658
|
0.00001
|
|
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
|
rs757069066
|
0.00001
|
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
|
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453
|
0.00001
|
|
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)
|
rs1183634153
|
0.00001
|
|
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
|
rs2092906139
|
0.00001
|
|
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=)
|
rs762502127
|
0.00001
|
|
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter)
|
rs138387856
|
0.00001
|
|
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
|
rs752918057
|
0.00001
|
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
|
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp)
|
rs104894596
|
0.00001
|
|
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs)
|
rs778021009
|
0.00001
|
|
NM_000263.4(NAGLU):c.144C>T (p.Phe48=)
|
rs104894599
|
0.00001
|
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
|
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
|
rs1312501106
|
0.00001
|
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
|
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)
|
rs1353058781
|
0.00001
|
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
|
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
|
rs1318650686
|
0.00001
|
|
NM_000263.4(NAGLU):c.154G>A (p.Val52Met)
|
rs794726880
|
0.00001
|
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
|
NM_000263.4(NAGLU):c.159G>A (p.Glu53=)
|
rs910639529
|
0.00001
|
|
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
|
rs1439979743
|
0.00001
|
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
|
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=)
|
rs1287450896
|
0.00001
|
|
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
|
rs1179779613
|
0.00001
|
|
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
|
rs1410332176
|
0.00001
|
|
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=)
|
rs1368697056
|
0.00001
|
|
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
|
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=)
|
rs749025581
|
0.00001
|
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
|
NM_000263.4(NAGLU):c.180G>A (p.Pro60=)
|
rs1449219265
|
0.00001
|
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
|
rs1264514990
|
0.00001
|
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
|
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)
|
rs753670246
|
0.00001
|
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
|
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
|
rs527236038
|
0.00001
|
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
|
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu)
|
rs527236037
|
0.00001
|
|
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys)
|
rs1230894568
|
0.00001
|
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
|
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
|
rs748402226
|
0.00001
|
|
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=)
|
rs1397893429
|
0.00001
|
|
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=)
|
rs934112717
|
0.00001
|
|
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
|
rs1438567691
|
0.00001
|
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
|
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
|
rs1329966515
|
0.00001
|
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
|
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
|
rs1220553522
|
0.00001
|
|
NM_000263.4(NAGLU):c.231G>C (p.Val77=)
|
rs949225882
|
0.00001
|
|
NM_000263.4(NAGLU):c.261G>C (p.Ala87=)
|
rs1452325580
|
0.00001
|
|
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
|
rs1227387097
|
0.00001
|
|
NM_000263.4(NAGLU):c.270C>T (p.His90=)
|
rs1360267129
|
0.00001
|
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
|
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
|
rs753801626
|
0.00001
|
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
|
rs1285791183
|
0.00001
|
|
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
|
rs1436378685
|
0.00001
|
|
NM_000263.4(NAGLU):c.383+1G>T
|
rs727504028
|
0.00001
|
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-16A>T
|
rs768251683
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-1G>A
|
rs764134891
|
0.00001
|
|
NM_000263.4(NAGLU):c.384-8G>A
|
rs746106558
|
0.00001
|
|
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=)
|
rs1453761645
|
0.00001
|
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
|
NM_000263.4(NAGLU):c.411G>A (p.Thr137=)
|
rs1464521532
|
0.00001
|
|
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn)
|
rs2092909557
|
0.00001
|
|
NM_000263.4(NAGLU):c.432G>A (p.Trp144Ter)
|
rs748042028
|
0.00001
|
|
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
|
rs746876753
|
0.00001
|
|
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
|
rs1312488945
|
0.00001
|
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
|
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter)
|
rs1270564492
|
0.00001
|
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
rs1344891508
|
0.00001
|
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
|
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter)
|
rs1279412522
|
0.00001
|
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
|
NM_000263.4(NAGLU):c.645C>T (p.Pro215=)
|
rs2092912974
|
0.00001
|
|
NM_000263.4(NAGLU):c.679-15C>T
|
rs376430265
|
0.00001
|
|
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter)
|
rs886043792
|
0.00001
|
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
|
NM_000263.4(NAGLU):c.701G>A (p.Arg234His)
|
rs886042073
|
0.00001
|
|
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
|
rs770221835
|
0.00001
|
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
|
NM_000263.4(NAGLU):c.720A>T (p.Pro240=)
|
rs892493572
|
0.00001
|
|
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
|
rs539646032
|
0.00001
|
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
|
NM_000263.4(NAGLU):c.764+12C>G
|
rs1002650158
|
0.00001
|
|
NM_000263.4(NAGLU):c.764+15A>G
|
rs1419186153
|
0.00001
|
|
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
|
rs1275689779
|
0.00001
|
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480
|
0.00001
|
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
|
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
|
rs746626709
|
0.00001
|
|
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
|
rs140386564
|
0.00001
|
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
|
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu)
|
rs118204025
|
0.00001
|
|
NM_000263.4(NAGLU):c.999C>T (p.Ala333=)
|
rs959173039
|
0.00001
|
|
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro)
|
rs781489326
|
0.00001
|
|
NM_000284.4(PDHA1):c.*1376C>T
|
rs963546680
|
0.00001
|
|
NM_000284.4(PDHA1):c.*1779A>T
|
rs758279534
|
0.00001
|
|
NM_000284.4(PDHA1):c.*1926G>C
|
rs778062708
|
0.00001
|
|
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)
|
rs1269552788
|
0.00001
|
|
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)
|
rs147510382
|
0.00001
|
|
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=)
|
rs749696135
|
0.00001
|
|
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)
|
rs770669838
|
0.00001
|
|
NM_000284.4(PDHA1):c.1083G>A (p.Leu361=)
|
rs745312753
|
0.00001
|
|
NM_000284.4(PDHA1):c.117+9T>G
|
rs763924525
|
0.00001
|
|
NM_000284.4(PDHA1):c.292-11C>T
|
rs776535833
|
0.00001
|
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
|
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)
|
rs1425138915
|
0.00001
|
|
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)
|
rs1198119577
|
0.00001
|
|
NM_000284.4(PDHA1):c.411G>A (p.Glu137=)
|
rs1301075698
|
0.00001
|
|
NM_000284.4(PDHA1):c.419-8A>G
|
rs769681451
|
0.00001
|
|
NM_000284.4(PDHA1):c.477C>T (p.Asn159=)
|
rs2063173885
|
0.00001
|
|
NM_000284.4(PDHA1):c.511-6T>C
|
rs1438332782
|
0.00001
|
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
|
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
|
rs1410654779
|
0.00001
|
|
NM_000284.4(PDHA1):c.696T>C (p.Ser232=)
|
rs764871850
|
0.00001
|
|
NM_000284.4(PDHA1):c.699T>C (p.Val233=)
|
rs1279461531
|
0.00001
|
|
NM_000284.4(PDHA1):c.702G>A (p.Glu234=)
|
rs1312669828
|
0.00001
|
|
NM_000284.4(PDHA1):c.756G>A (p.Leu252=)
|
rs768600287
|
0.00001
|
|
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)
|
rs759062849
|
0.00001
|
|
NM_000284.4(PDHA1):c.873A>T (p.Gly291=)
|
rs1248347868
|
0.00001
|
|
NM_000284.4(PDHA1):c.899+10T>C
|
rs1471723235
|
0.00001
|
|
NM_000284.4(PDHA1):c.899+4C>T
|
rs749903004
|
0.00001
|
|
NM_000284.4(PDHA1):c.900-10C>A
|
rs370163447
|
0.00001
|
|
NM_000284.4(PDHA1):c.900-2dup
|
rs779132922
|
0.00001
|
|
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)
|
rs1432211611
|
0.00001
|
|
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
|
rs759443348
|
0.00001
|
|
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)
|
rs755945768
|
0.00001
|
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
|
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
|
rs745952414
|
0.00001
|
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
|
NM_000289.6(PFKM):c.103A>C (p.Arg35=)
|
rs1057522048
|
0.00001
|
|
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
|
rs1350163599
|
0.00001
|
|
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
|
rs151045985
|
0.00001
|
|
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
|
rs531875148
|
0.00001
|
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
|
NM_000289.6(PFKM):c.1149G>A (p.Glu383=)
|
rs765367927
|
0.00001
|
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
|
NM_000289.6(PFKM):c.1192-16G>A
|
rs756542348
|
0.00001
|
|
NM_000289.6(PFKM):c.1192-4A>G
|
rs1320880960
|
0.00001
|
|
NM_000289.6(PFKM):c.1192-7T>C
|
rs1445315219
|
0.00001
|
|
NM_000289.6(PFKM):c.123T>C (p.Gly41=)
|
rs756442663
|
0.00001
|
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
|
NM_000289.6(PFKM):c.1260C>T (p.Arg420=)
|
rs756454146
|
0.00001
|
|
NM_000289.6(PFKM):c.1275T>C (p.Ile425=)
|
rs1592789738
|
0.00001
|
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
|
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
|
rs1181855702
|
0.00001
|
|
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
|
rs780240624
|
0.00001
|
|
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
|
rs765683112
|
0.00001
|
|
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
|
rs1413157674
|
0.00001
|
|
NM_000289.6(PFKM):c.1401T>C (p.Leu467=)
|
rs554664722
|
0.00001
|
|
NM_000289.6(PFKM):c.1412+6T>C
|
rs1417385697
|
0.00001
|
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
|
NM_000289.6(PFKM):c.1455A>C (p.Ile485=)
|
rs1404730324
|
0.00001
|
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
|
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys)
|
rs1487607332
|
0.00001
|
|
NM_000289.6(PFKM):c.159+10G>A
|
rs772752063
|
0.00001
|
|
NM_000289.6(PFKM):c.1599C>T (p.Val533=)
|
rs1308260209
|
0.00001
|
|
NM_000289.6(PFKM):c.160-11G>C
|
rs770427697
|
0.00001
|
|
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
|
rs371605516
|
0.00001
|
|
NM_000289.6(PFKM):c.1653+10T>C
|
rs1355868874
|
0.00001
|
|
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)
|
rs1950696961
|
0.00001
|
|
NM_000289.6(PFKM):c.1818+10C>T
|
rs774040508
|
0.00001
|
|
NM_000289.6(PFKM):c.1857T>C (p.Thr619=)
|
rs762229855
|
0.00001
|
|
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
|
rs748755500
|
0.00001
|
|
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
|
rs1180149962
|
0.00001
|
|
NM_000289.6(PFKM):c.1993-6C>T
|
rs1258118168
|
0.00001
|
|
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
|
rs1426948180
|
0.00001
|
|
NM_000289.6(PFKM):c.2093-9T>G
|
rs1425536614
|
0.00001
|
|
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln)
|
rs770276917
|
0.00001
|
|
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
|
rs373055147
|
0.00001
|
|
NM_000289.6(PFKM):c.216C>T (p.Ser72=)
|
rs760812841
|
0.00001
|
|
NM_000289.6(PFKM):c.2199-4G>A
|
rs1195176028
|
0.00001
|
|
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
|
rs754074132
|
0.00001
|
|
NM_000289.6(PFKM):c.2292T>C (p.His764=)
|
rs765145687
|
0.00001
|
|
NM_000289.6(PFKM):c.2325C>T (p.Ser775=)
|
rs780497709
|
0.00001
|
|
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile)
|
rs537327893
|
0.00001
|
|
NM_000289.6(PFKM):c.237+10A>G
|
rs753085406
|
0.00001
|
|
NM_000289.6(PFKM):c.238-9C>T
|
rs1410090927
|
0.00001
|
|
NM_000289.6(PFKM):c.276T>C (p.Phe92=)
|
rs1479575063
|
0.00001
|
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
|
NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)
|
rs138893744
|
0.00001
|
|
NM_000289.6(PFKM):c.318G>A (p.Val106=)
|
rs775680284
|
0.00001
|
|
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg)
|
rs763214745
|
0.00001
|
|
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
|
rs767919774
|
0.00001
|
|
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
|
rs765868040
|
0.00001
|
|
NM_000289.6(PFKM):c.375T>C (p.Ala125=)
|
rs748925843
|
0.00001
|
|
NM_000289.6(PFKM):c.384C>T (p.Phe128=)
|
rs771979702
|
0.00001
|
|
NM_000289.6(PFKM):c.393G>A (p.Glu131=)
|
rs1949678398
|
0.00001
|
|
NM_000289.6(PFKM):c.428-5G>A
|
rs530415874
|
0.00001
|
|
NM_000289.6(PFKM):c.477G>T (p.Val159=)
|
rs1409128392
|
0.00001
|
|
NM_000289.6(PFKM):c.483G>A (p.Leu161=)
|
rs199856938
|
0.00001
|
|
NM_000289.6(PFKM):c.546G>A (p.Leu182=)
|
rs779095033
|
0.00001
|
|
NM_000289.6(PFKM):c.570T>C (p.Asp190=)
|
rs761133325
|
0.00001
|
|
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
|
rs755956424
|
0.00001
|
|
NM_000289.6(PFKM):c.638+20C>T
|
rs901548166
|
0.00001
|
|
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
|
rs995717911
|
0.00001
|
|
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
|
rs1368560997
|
0.00001
|
|
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
|
rs768094970
|
0.00001
|
|
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr)
|
rs748720104
|
0.00001
|
|
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
|
rs1173987256
|
0.00001
|
|
NM_000289.6(PFKM):c.844-4T>C
|
rs1366950106
|
0.00001
|
|
NM_000289.6(PFKM):c.844-8C>T
|
rs1422456826
|
0.00001
|
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
|
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
|
rs752179477
|
0.00001
|
|
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
|
rs1251670627
|
0.00001
|
|
NM_000289.6(PFKM):c.936+1G>A
|
rs1949974650
|
0.00001
|
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
|
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
|
rs932393961
|
0.00001
|
|
NM_000289.6(PFKM):c.993C>G (p.Thr331=)
|
rs754716303
|
0.00001
|
|
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)
|
rs1308236739
|
0.00001
|
|
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
|
rs774293728
|
0.00001
|
|
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)
|
rs104894034
|
0.00001
|
|
NM_000290.4(PGAM2):c.331C>T (p.Gln111Ter)
|
rs764676548
|
0.00001
|
|
NM_000290.4(PGAM2):c.363C>T (p.Ile121=)
|
rs768642477
|
0.00001
|
|
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu)
|
rs1385458139
|
0.00001
|
|
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)
|
rs749757183
|
0.00001
|
|
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val)
|
rs747760221
|
0.00001
|
|
NM_000290.4(PGAM2):c.90G>A (p.Leu30=)
|
rs759827542
|
0.00001
|
|
NM_000291.4(PGK1):c.320C>T (p.Ala107Val)
|
rs1569550806
|
0.00001
|
|
NM_000291.4(PGK1):c.452G>A (p.Arg151Gln)
|
rs1557247552
|
0.00001
|
|
NM_000291.4(PGK1):c.575A>T (p.Lys192Met)
|
rs782204187
|
0.00001
|
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
|
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg)
|
rs1187663822
|
0.00001
|
|
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
|
rs1287580250
|
0.00001
|
|
NM_000292.3(PHKA2):c.1245+9T>C
|
rs1462014190
|
0.00001
|
|
NM_000292.3(PHKA2):c.1460-5A>C
|
rs1409969328
|
0.00001
|
|
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)
|
rs753412659
|
0.00001
|
|
NM_000292.3(PHKA2):c.1793+8G>T
|
rs761684724
|
0.00001
|
|
NM_000292.3(PHKA2):c.1889A>G (p.Asn630Ser)
|
rs760621953
|
0.00001
|
|
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)
|
rs368123691
|
0.00001
|
|
NM_000292.3(PHKA2):c.2385C>G (p.Leu795=)
|
rs777278113
|
0.00001
|
|
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)
|
rs766866500
|
0.00001
|
|
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
|
rs747280022
|
0.00001
|
|
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)
|
rs373884791
|
0.00001
|
|
NM_000292.3(PHKA2):c.2622A>G (p.Thr874=)
|
rs1249240827
|
0.00001
|
|
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
|
rs2047817433
|
0.00001
|
|
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)
|
rs201611776
|
0.00001
|
|
NM_000292.3(PHKA2):c.2868C>T (p.His956=)
|
rs779163512
|
0.00001
|
|
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)
|
rs757379156
|
0.00001
|
|
NM_000292.3(PHKA2):c.3189G>T (p.Arg1063=)
|
rs775954610
|
0.00001
|
|
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=)
|
rs749097024
|
0.00001
|
|
NM_000292.3(PHKA2):c.37G>A (p.Gly13Arg)
|
rs202065000
|
0.00001
|
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
|
NM_000292.3(PHKA2):c.557G>A (p.Arg186His)
|
rs137852290
|
0.00001
|
|
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)
|
rs367696431
|
0.00001
|
|
NM_000293.3(PHKB):c.*349C>T
|
rs886052025
|
0.00001
|
|
NM_000293.3(PHKB):c.*595G>A
|
rs563945926
|
0.00001
|
|
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
|
rs78667243
|
0.00001
|
|
NM_000293.3(PHKB):c.1204+12T>G
|
rs1972080009
|
0.00001
|
|
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp)
|
rs774768331
|
0.00001
|
|
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
|
rs745821795
|
0.00001
|
|
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys)
|
rs182398740
|
0.00001
|
|
NM_000293.3(PHKB):c.14C>T (p.Ala5Val)
|
rs778015344
|
0.00001
|
|
NM_000293.3(PHKB):c.1514+18G>C
|
rs760376574
|
0.00001
|
|
NM_000293.3(PHKB):c.1716T>C (p.Thr572=)
|
rs746052855
|
0.00001
|
|
NM_000293.3(PHKB):c.1740C>T (p.Phe580=)
|
rs1279199570
|
0.00001
|
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
|
NM_000293.3(PHKB):c.1862T>C (p.Ile621Thr)
|
rs1042750036
|
0.00001
|
|
NM_000293.3(PHKB):c.1972-8C>T
|
rs759445171
|
0.00001
|
|
NM_000293.3(PHKB):c.1977A>T (p.Leu659=)
|
rs758601628
|
0.00001
|
|
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)
|
rs1273669177
|
0.00001
|
|
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)
|
rs1555472064
|
0.00001
|
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
|
NM_000293.3(PHKB):c.2347C>T (p.Arg783Cys)
|
rs143421326
|
0.00001
|
|
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro)
|
rs1485645875
|
0.00001
|
|
NM_000293.3(PHKB):c.2382C>T (p.Ser794=)
|
rs1463366667
|
0.00001
|
|
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly)
|
rs754835322
|
0.00001
|
|
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys)
|
rs555108367
|
0.00001
|
|
NM_000293.3(PHKB):c.2676A>G (p.Gly892=)
|
rs756848227
|
0.00001
|
|
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser)
|
rs1400548271
|
0.00001
|
|
NM_000293.3(PHKB):c.2725C>T (p.Gln909Ter)
|
rs748262135
|
0.00001
|
|
NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg)
|
rs929325638
|
0.00001
|
|
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
|
rs781357865
|
0.00001
|
|
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=)
|
rs1402815994
|
0.00001
|
|
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=)
|
rs149234185
|
0.00001
|
|
NM_000293.3(PHKB):c.306-2A>G
|
rs797044442
|
0.00001
|
|
NM_000293.3(PHKB):c.3144+9A>C
|
rs200504388
|
0.00001
|
|
NM_000293.3(PHKB):c.31G>A (p.Val11Met)
|
rs1217081596
|
0.00001
|
|
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr)
|
rs769735460
|
0.00001
|
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
|
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
|
rs1970349740
|
0.00001
|
|
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg)
|
rs749597903
|
0.00001
|
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
|
NM_000293.3(PHKB):c.710+12A>C
|
rs542318460
|
0.00001
|
|
NM_000293.3(PHKB):c.710+7T>G
|
rs976138000
|
0.00001
|
|
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln)
|
rs190737988
|
0.00001
|
|
NM_000293.3(PHKB):c.76+2T>C
|
rs1303617854
|
0.00001
|
|
NM_000293.3(PHKB):c.77-7del
|
rs754758968
|
0.00001
|
|
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys)
|
rs781197907
|
0.00001
|
|
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
|
rs143805637
|
0.00001
|
|
NM_000294.2(PHKG2):c.-106G>A
|
rs879382458
|
0.00001
|
|
NM_000294.3(PHKG2):c.1026G>A (p.Ala342=)
|
rs200852313
|
0.00001
|
|
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser)
|
rs920855301
|
0.00001
|
|
NM_000294.3(PHKG2):c.192T>C (p.Pro64=)
|
rs372292588
|
0.00001
|
|
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)
|
rs753644625
|
0.00001
|
|
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter)
|
rs1450937339
|
0.00001
|
|
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
|
rs375063162
|
0.00001
|
|
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
|
rs779594016
|
0.00001
|
|
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
|
rs1567261889
|
0.00001
|
|
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr)
|
rs137853591
|
0.00001
|
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
|
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter)
|
rs778952896
|
0.00001
|
|
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)
|
rs1270523244
|
0.00001
|
|
NM_000294.3(PHKG2):c.579T>C (p.Tyr193=)
|
rs992271371
|
0.00001
|
|
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
|
rs192866993
|
0.00001
|
|
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)
|
rs767427889
|
0.00001
|
|
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys)
|
rs994896967
|
0.00001
|
|
NM_000294.3(PHKG2):c.864C>T (p.His288=)
|
rs1336288802
|
0.00001
|
|
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala)
|
rs780358808
|
0.00001
|
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
|
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)
|
rs74315362
|
0.00001
|
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
|
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)
|
rs774652817
|
0.00001
|
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
|
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)
|
rs771145576
|
0.00001
|
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
|
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
|
rs201255024
|
0.00001
|
|
NM_000298.6(PKLR):c.307del (p.Arg103fs)
|
rs1433205059
|
0.00001
|
|
NM_000308.4(CTSA):c.-13C>A
|
rs748154467
|
0.00001
|
|
NM_000308.4(CTSA):c.-42C>T
|
rs765245462
|
0.00001
|
|
NM_000308.4(CTSA):c.-43T>A
|
rs779305626
|
0.00001
|
|
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
|
rs1437597214
|
0.00001
|
|
NM_000308.4(CTSA):c.1101C>T (p.Asn367=)
|
rs201234134
|
0.00001
|
|
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro)
|
rs751427255
|
0.00001
|
|
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys)
|
rs766490643
|
0.00001
|
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
|
NM_000308.4(CTSA):c.114C>G (p.Leu38=)
|
rs368879245
|
0.00001
|
|
NM_000308.4(CTSA):c.1152G>T (p.Leu384=)
|
rs745547045
|
0.00001
|
|
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile)
|
rs779857539
|
0.00001
|
|
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly)
|
rs1986920005
|
0.00001
|
|
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp)
|
rs1247403237
|
0.00001
|
|
NM_000308.4(CTSA):c.1320C>T (p.Phe440=)
|
rs763420130
|
0.00001
|
|
NM_000308.4(CTSA):c.1356C>A (p.Ile452=)
|
rs1201030038
|
0.00001
|
|
NM_000308.4(CTSA):c.1365C>T (p.Ala455=)
|
rs369254598
|
0.00001
|
|
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser)
|
rs200051553
|
0.00001
|
|
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn)
|
rs149971062
|
0.00001
|
|
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala)
|
rs1411857412
|
0.00001
|
|
NM_000308.4(CTSA):c.146A>G (p.Gln49Arg)
|
rs137854541
|
0.00001
|
|
NM_000308.4(CTSA):c.195-7C>T
|
rs773860756
|
0.00001
|
|
NM_000308.4(CTSA):c.285C>G (p.Leu95=)
|
rs146382561
|
0.00001
|
|
NM_000308.4(CTSA):c.291G>A (p.Glu97=)
|
rs1986982141
|
0.00001
|
|
NM_000308.4(CTSA):c.394G>A (p.Val132Met)
|
rs137854545
|
0.00001
|
|
NM_000308.4(CTSA):c.414T>C (p.Asp138=)
|
rs755950061
|
0.00001
|
|
NM_000308.4(CTSA):c.445-19C>T
|
rs752702483
|
0.00001
|
|
NM_000308.4(CTSA):c.495G>A (p.Pro165=)
|
rs1350708938
|
0.00001
|
|
NM_000308.4(CTSA):c.525C>T (p.Thr175=)
|
rs1157339986
|
0.00001
|
|
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
|
rs757124963
|
0.00001
|
|
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg)
|
rs749819661
|
0.00001
|
|
NM_000308.4(CTSA):c.600+3G>A
|
rs1175825927
|
0.00001
|
|
NM_000308.4(CTSA):c.692+6G>A
|
rs199997385
|
0.00001
|
|
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter)
|
rs766114836
|
0.00001
|
|
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr)
|
rs1381644117
|
0.00001
|
|
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln)
|
rs746200419
|
0.00001
|
|
NM_000308.4(CTSA):c.777+20T>C
|
rs564493992
|
0.00001
|
|
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu)
|
rs778824488
|
0.00001
|
|
NM_000308.4(CTSA):c.840G>A (p.Pro280=)
|
rs576367740
|
0.00001
|
|
NM_000308.4(CTSA):c.869+14G>A
|
rs1041165015
|
0.00001
|
|
NM_000308.4(CTSA):c.869+1G>C
|
rs1987148852
|
0.00001
|
|
NM_000308.4(CTSA):c.869+9T>G
|
rs761952251
|
0.00001
|
|
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu)
|
rs779873368
|
0.00001
|
|
NM_000340.2(SLC2A2):c.*1086G>A
|
rs185726034
|
0.00001
|
|
NM_000340.2(SLC2A2):c.*11C>G
|
rs761913998
|
0.00001
|
|
NM_000340.2(SLC2A2):c.*166G>A
|
rs1232606277
|
0.00001
|
|
NM_000340.2(SLC2A2):c.*568A>T
|
rs886058173
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1069-10A>G
|
rs1487335649
|
0.00001
|
|
NM_000340.2(SLC2A2):c.108+20G>A
|
rs1212350320
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1097G>A (p.Arg366His)
|
rs755000812
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=)
|
rs775605288
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)
|
rs121909744
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His)
|
rs75144723
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
|
rs1272353608
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg)
|
rs777806589
|
0.00001
|
|
NM_000340.2(SLC2A2):c.1560T>C (p.Ala520=)
|
rs755934523
|
0.00001
|
|
NM_000340.2(SLC2A2):c.157C>T (p.Arg53Ter)
|
rs771477447
|
0.00001
|
|
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
|
rs1373290524
|
0.00001
|
|
NM_000340.2(SLC2A2):c.240T>C (p.Pro80=)
|
rs756220231
|
0.00001
|
|
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
|
rs5401
|
0.00001
|
|
NM_000340.2(SLC2A2):c.499C>T (p.Leu167=)
|
rs764767259
|
0.00001
|
|
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val)
|
rs779065938
|
0.00001
|
|
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)
|
rs1560035364
|
0.00001
|
|
NM_000340.2(SLC2A2):c.775+1G>A
|
rs756874949
|
0.00001
|
|
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)
|
rs1168244945
|
0.00001
|
|
NM_000340.2(SLC2A2):c.952G>A (p.Gly318Arg)
|
rs780067980
|
0.00001
|
|
NM_000340.2(SLC2A2):c.963+1G>A
|
rs371977235
|
0.00001
|
|
NM_000343.3(SLC5A1):c.-238G>A
|
rs1349973469
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*1408G>A
|
rs1243897828
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*1595A>C
|
rs1232699809
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*1755T>G
|
rs886057413
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*2201G>A
|
rs1394513769
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*2694A>G
|
rs1379735549
|
0.00001
|
|
NM_000343.4(SLC5A1):c.*599C>T
|
rs2094055488
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)
|
rs774651252
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr)
|
rs774741107
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1149A>G (p.Leu383=)
|
rs781091733
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1230C>T (p.Tyr410=)
|
rs200206252
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1245G>A (p.Lys415=)
|
rs200577192
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly)
|
rs1414911182
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
|
NM_000343.4(SLC5A1):c.135+12G>T
|
rs927895146
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
|
rs202145392
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1434G>A (p.Lys478=)
|
rs374997248
|
0.00001
|
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1740C>T (p.Ile580=)
|
rs200702605
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter)
|
rs199727071
|
0.00001
|
|
NM_000343.4(SLC5A1):c.1771+9T>C
|
rs995612487
|
0.00001
|
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
|
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
|
rs199683554
|
0.00001
|
|
NM_000343.4(SLC5A1):c.207+19G>A
|
rs201259641
|
0.00001
|
|
NM_000343.4(SLC5A1):c.207+2dup
|
rs766189236
|
0.00001
|
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
|
NM_000343.4(SLC5A1):c.30C>T (p.Thr10=)
|
rs750528703
|
0.00001
|
|
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)
|
rs1260871547
|
0.00001
|
|
NM_000343.4(SLC5A1):c.334C>T (p.Leu112=)
|
rs1424187026
|
0.00001
|
|
NM_000343.4(SLC5A1):c.373-13G>A
|
rs201398293
|
0.00001
|
|
NM_000343.4(SLC5A1):c.373-9C>T
|
rs199690019
|
0.00001
|
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
|
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
|
rs775435397
|
0.00001
|
|
NM_000343.4(SLC5A1):c.478-12C>T
|
rs1447609181
|
0.00001
|
|
NM_000343.4(SLC5A1):c.583+20C>A
|
rs757295052
|
0.00001
|
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
|
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr)
|
rs1253967489
|
0.00001
|
|
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)
|
rs202020538
|
0.00001
|
|
NM_000343.4(SLC5A1):c.738T>C (p.Asp246=)
|
rs1396640058
|
0.00001
|
|
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile)
|
rs777779839
|
0.00001
|
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
|
NM_000343.4(SLC5A1):c.855C>T (p.Ile285=)
|
rs1471239456
|
0.00001
|
|
NM_000343.4(SLC5A1):c.875G>A (p.Cys292Tyr)
|
rs765502638
|
0.00001
|
|
NM_000343.4(SLC5A1):c.886-10T>C
|
rs201709042
|
0.00001
|
|
NM_000343.4(SLC5A1):c.886-15G>A
|
rs2094005569
|
0.00001
|
|
NM_000343.4(SLC5A1):c.886-5G>C
|
rs763128374
|
0.00001
|
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
0.00001
|
|
NM_000352.4(ABCC8):c.-190C>G
|
rs1395224084
|
0.00001
|
|
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser)
|
rs1183465672
|
0.00001
|
|
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)
|
rs776713811
|
0.00001
|
|
NM_000352.6(ABCC8):c.108C>T (p.His36=)
|
rs757935183
|
0.00001
|
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
|
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)
|
rs765529676
|
0.00001
|
|
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)
|
rs267606623
|
0.00001
|
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
|
NM_000352.6(ABCC8):c.1428C>G (p.Phe476Leu)
|
rs867541142
|
0.00001
|
|
NM_000352.6(ABCC8):c.1467+9C>T
|
rs774224706
|
0.00001
|
|
NM_000352.6(ABCC8):c.1468-2A>T
|
rs1057516946
|
0.00001
|
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
|
NM_000352.6(ABCC8):c.148+3G>A
|
rs996321405
|
0.00001
|
|
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp)
|
rs775894336
|
0.00001
|
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
|
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)
|
rs773345085
|
0.00001
|
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
|
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr)
|
rs886048054
|
0.00001
|
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
|
NM_000352.6(ABCC8):c.165C>T (p.Ser55=)
|
rs1591928903
|
0.00001
|
|
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)
|
rs1362268812
|
0.00001
|
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
|
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg)
|
rs762919223
|
0.00001
|
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
|
NM_000352.6(ABCC8):c.1818-7C>T
|
rs17846731
|
0.00001
|
|
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)
|
rs763273046
|
0.00001
|
|
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)
|
rs565662182
|
0.00001
|
|
NM_000352.6(ABCC8):c.1924-9C>T
|
rs1218098329
|
0.00001
|
|
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)
|
rs373175144
|
0.00001
|
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
|
NM_000352.6(ABCC8):c.1980C>T (p.Thr660=)
|
rs766374930
|
0.00001
|
|
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)
|
rs371724951
|
0.00001
|
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
|
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)
|
rs1591794603
|
0.00001
|
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
|
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
|
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys)
|
rs753296261
|
0.00001
|
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
0.00001
|
|
NM_000352.6(ABCC8):c.2291+7C>T
|
rs770152618
|
0.00001
|
|
NM_000352.6(ABCC8):c.2291+8G>A
|
rs748169568
|
0.00001
|
|
NM_000352.6(ABCC8):c.2368G>A (p.Glu790Lys)
|
rs1317396512
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
0.00001
|
|
NM_000352.6(ABCC8):c.2475+19G>A
|
rs373894772
|
0.00001
|
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
|
NM_000352.6(ABCC8):c.2556+1G>A
|
rs749271190
|
0.00001
|
|
NM_000352.6(ABCC8):c.2556+1G>T
|
rs749271190
|
0.00001
|
|
NM_000352.6(ABCC8):c.2556+9A>C
|
rs1954870052
|
0.00001
|
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
|
NM_000352.6(ABCC8):c.2694+15G>A
|
rs886048051
|
0.00001
|
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
|
NM_000352.6(ABCC8):c.2753G>A (p.Arg918Lys)
|
rs748585974
|
0.00001
|
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
|
NM_000352.6(ABCC8):c.291-8C>T
|
rs370095966
|
0.00001
|
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
|
NM_000352.6(ABCC8):c.3076C>G (p.Leu1026Val)
|
rs1354438772
|
0.00001
|
|
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs)
|
rs766033867
|
0.00001
|
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
|
NM_000352.6(ABCC8):c.3147C>T (p.Asn1049=)
|
rs1317881086
|
0.00001
|
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
|
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)
|
rs745895362
|
0.00001
|
|
NM_000352.6(ABCC8):c.3228G>T (p.Val1076=)
|
rs368587840
|
0.00001
|
|
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)
|
rs771538281
|
0.00001
|
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
|
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
|
rs1354859002
|
0.00001
|
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
0.00001
|
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
|
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp)
|
rs567382793
|
0.00001
|
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
|
NM_000352.6(ABCC8):c.3868-5C>T
|
rs1591715618
|
0.00001
|
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
0.00001
|
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
|
NM_000352.6(ABCC8):c.4060G>A (p.Asp1354Asn)
|
rs1199684247
|
0.00001
|
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
|
NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)
|
rs1207446214
|
0.00001
|
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
0.00001
|
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
|
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)
|
rs72559718
|
0.00001
|
|
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)
|
rs746249607
|
0.00001
|
|
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
|
NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu)
|
rs1334003978
|
0.00001
|
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
0.00001
|
|
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
|
rs72559717
|
0.00001
|
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
|
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)
|
rs267602801
|
0.00001
|
|
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)
|
rs553746345
|
0.00001
|
|
NM_000352.6(ABCC8):c.4545+9T>C
|
rs775018351
|
0.00001
|
|
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
|
NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)
|
rs17846721
|
0.00001
|
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
|
NM_000352.6(ABCC8):c.496C>A (p.Gln166Lys)
|
rs1591896370
|
0.00001
|
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
|
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
|
rs755745806
|
0.00001
|
|
NM_000352.6(ABCC8):c.510C>T (p.Cys170=)
|
rs752679178
|
0.00001
|
|
NM_000352.6(ABCC8):c.513C>T (p.Leu171=)
|
rs767395738
|
0.00001
|
|
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu)
|
rs368894930
|
0.00001
|
|
NM_000352.6(ABCC8):c.579+9G>A
|
rs776165640
|
0.00001
|
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
0.00001
|
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
|
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)
|
rs1957198348
|
0.00001
|
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
|
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly)
|
rs149347593
|
0.00001
|
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
|
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
|
rs776498313
|
0.00001
|
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
|
NM_000352.6(ABCC8):c.987G>A (p.Lys329=)
|
rs1216809389
|
0.00001
|
|
NM_000352.6(ABCC8):c.993C>T (p.Asn331=)
|
rs752188418
|
0.00001
|
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
|
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)
|
rs121964848
|
0.00001
|
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
|
NM_000402.4(G6PD):c.1451G>A (p.Arg484His)
|
rs137852324
|
0.00001
|
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
|
NM_000402.4(G6PD):c.607T>C (p.Phe203Leu)
|
rs137852343
|
0.00001
|
|
NM_000404.3(GLB1):c.-73C>T
|
rs530326876
|
0.00001
|
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
|
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)
|
rs72555372
|
0.00001
|
|
NM_000404.4(GLB1):c.1110A>G (p.Pro370=)
|
rs760325133
|
0.00001
|
|
NM_000404.4(GLB1):c.1122T>C (p.Tyr374=)
|
rs1407133452
|
0.00001
|
|
NM_000404.4(GLB1):c.1174C>T (p.Leu392=)
|
rs766318695
|
0.00001
|
|
NM_000404.4(GLB1):c.1176G>A (p.Leu392=)
|
rs776608131
|
0.00001
|
|
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro)
|
rs1301956348
|
0.00001
|
|
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg)
|
rs1301956348
|
0.00001
|
|
NM_000404.4(GLB1):c.1234-10T>G
|
rs774894435
|
0.00001
|
|
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu)
|
rs1399147380
|
0.00001
|
|
NM_000404.4(GLB1):c.1251G>A (p.Leu417=)
|
rs770133205
|
0.00001
|
|
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
|
rs747709527
|
0.00001
|
|
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)
|
rs200181401
|
0.00001
|
|
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala)
|
rs779877504
|
0.00001
|
|
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly)
|
rs765230559
|
0.00001
|
|
NM_000404.4(GLB1):c.1317C>G (p.Val439=)
|
rs1449783767
|
0.00001
|
|
NM_000404.4(GLB1):c.1320C>T (p.His440=)
|
rs200390675
|
0.00001
|
|
NM_000404.4(GLB1):c.1326A>G (p.Arg442=)
|
rs953970172
|
0.00001
|
|
NM_000404.4(GLB1):c.1347+9C>T
|
rs753804013
|
0.00001
|
|
NM_000404.4(GLB1):c.1356G>A (p.Gln452=)
|
rs1360438550
|
0.00001
|
|
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)
|
rs72555359
|
0.00001
|
|
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)
|
rs28934886
|
0.00001
|
|
NM_000404.4(GLB1):c.141A>G (p.Pro47=)
|
rs1417933450
|
0.00001
|
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
|
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)
|
rs1553606400
|
0.00001
|
|
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)
|
rs72555358
|
0.00001
|
|
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)
|
rs780232995
|
0.00001
|
|
NM_000404.4(GLB1):c.1479+1G>A
|
rs1022476871
|
0.00001
|
|
NM_000404.4(GLB1):c.1480-2A>G
|
rs587776526
|
0.00001
|
|
NM_000404.4(GLB1):c.1480-4G>T
|
rs377063117
|
0.00001
|
|
NM_000404.4(GLB1):c.1480-8del
|
rs757882979
|
0.00001
|
|
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)
|
rs202007119
|
0.00001
|
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
|
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)
|
rs1207569870
|
0.00001
|
|
NM_000404.4(GLB1):c.1518C>T (p.Leu506=)
|
rs748176346
|
0.00001
|
|
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
|
rs763651916
|
0.00001
|
|
NM_000404.4(GLB1):c.1572G>C (p.Leu524=)
|
rs765957868
|
0.00001
|
|
NM_000404.4(GLB1):c.1593C>T (p.Asp531=)
|
rs567562440
|
0.00001
|
|
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn)
|
rs143423935
|
0.00001
|
|
NM_000404.4(GLB1):c.1638C>T (p.Tyr546=)
|
rs752092360
|
0.00001
|
|
NM_000404.4(GLB1):c.1643T>A (p.Leu548His)
|
rs1335107953
|
0.00001
|
|
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)
|
rs776327443
|
0.00001
|
|
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)
|
rs1295295164
|
0.00001
|
|
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)
|
rs778375259
|
0.00001
|
|
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser)
|
rs1291361971
|
0.00001
|
|
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)
|
rs794727165
|
0.00001
|
|
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
|
rs72555371
|
0.00001
|
|
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
|
rs1375909576
|
0.00001
|
|
NM_000404.4(GLB1):c.1861C>T (p.Leu621=)
|
rs748948967
|
0.00001
|
|
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser)
|
rs755581184
|
0.00001
|
|
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)
|
rs1228819238
|
0.00001
|
|
NM_000404.4(GLB1):c.1896A>G (p.Glu632=)
|
rs372915557
|
0.00001
|
|
NM_000404.4(GLB1):c.1914C>T (p.Phe638=)
|
rs545982076
|
0.00001
|
|
NM_000404.4(GLB1):c.1938A>G (p.Ser646=)
|
rs201051026
|
0.00001
|
|
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)
|
rs569787678
|
0.00001
|
|
NM_000404.4(GLB1):c.1983C>T (p.Leu661=)
|
rs747589996
|
0.00001
|
|
NM_000404.4(GLB1):c.1992A>G (p.Pro664=)
|
rs780675073
|
0.00001
|
|
NM_000404.4(GLB1):c.1995C>T (p.Pro665=)
|
rs1300459240
|
0.00001
|
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
|
NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg)
|
rs764348340
|
0.00001
|
|
NM_000404.4(GLB1):c.2031A>G (p.Val677=)
|
rs909928512
|
0.00001
|
|
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)
|
rs1484753571
|
0.00001
|
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
|
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)
|
rs968429427
|
0.00001
|
|
NM_000404.4(GLB1):c.312G>A (p.Val104=)
|
rs113901133
|
0.00001
|
|
NM_000404.4(GLB1):c.336T>C (p.His112=)
|
rs201019449
|
0.00001
|
|
NM_000404.4(GLB1):c.366C>T (p.Pro122=)
|
rs769972414
|
0.00001
|
|
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)
|
rs28934274
|
0.00001
|
|
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe)
|
rs1699791081
|
0.00001
|
|
NM_000404.4(GLB1):c.397-1G>A
|
rs398123353
|
0.00001
|
|
NM_000404.4(GLB1):c.426A>G (p.Lys142=)
|
rs768435736
|
0.00001
|
|
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr)
|
rs1416369501
|
0.00001
|
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
|
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
|
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)
|
rs398123355
|
0.00001
|
|
NM_000404.4(GLB1):c.517C>G (p.Leu173Val)
|
rs1303774639
|
0.00001
|
|
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg)
|
rs367692210
|
0.00001
|
|
NM_000404.4(GLB1):c.534G>A (p.Gly178=)
|
rs928862880
|
0.00001
|
|
NM_000404.4(GLB1):c.553-8A>G
|
rs886058342
|
0.00001
|
|
NM_000404.4(GLB1):c.561T>C (p.Asn187=)
|
rs1344460111
|
0.00001
|
|
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)
|
rs756575833
|
0.00001
|
|
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)
|
rs779544911
|
0.00001
|
|
NM_000404.4(GLB1):c.636G>A (p.Gly212=)
|
rs746141370
|
0.00001
|
|
NM_000404.4(GLB1):c.669A>G (p.Ala223=)
|
rs909129937
|
0.00001
|
|
NM_000404.4(GLB1):c.66C>T (p.Arg22=)
|
rs987707141
|
0.00001
|
|
NM_000404.4(GLB1):c.681C>T (p.Phe227=)
|
rs780608544
|
0.00001
|
|
NM_000404.4(GLB1):c.693G>T (p.Gly231=)
|
rs754493105
|
0.00001
|
|
NM_000404.4(GLB1):c.699del (p.Gln234fs)
|
rs1452318343
|
0.00001
|
|
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)
|
rs766019573
|
0.00001
|
|
NM_000404.4(GLB1):c.734-6T>A
|
rs1350583798
|
0.00001
|
|
NM_000404.4(GLB1):c.777G>A (p.Glu259=)
|
rs766528936
|
0.00001
|
|
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala)
|
rs377174858
|
0.00001
|
|
NM_000404.4(GLB1):c.792+19G>A
|
rs745561290
|
0.00001
|
|
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)
|
rs1214295886
|
0.00001
|
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
|
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys)
|
rs371546950
|
0.00001
|
|
NM_000404.4(GLB1):c.818G>T (p.Trp273Leu)
|
rs72555362
|
0.00001
|
|
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg)
|
rs1185364016
|
0.00001
|
|
NM_000404.4(GLB1):c.837A>G (p.Gln279=)
|
rs1461790939
|
0.00001
|
|
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
|
rs1261599031
|
0.00001
|
|
NM_000404.4(GLB1):c.849A>C (p.Thr283=)
|
rs1238694687
|
0.00001
|
|
NM_000404.4(GLB1):c.850A>G (p.Ile284Val)
|
rs746547573
|
0.00001
|
|
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly)
|
rs76016860
|
0.00001
|
|
NM_000404.4(GLB1):c.902C>T (p.Ala301Val)
|
rs750531880
|
0.00001
|
|
NM_000404.4(GLB1):c.915-10T>C
|
rs770317304
|
0.00001
|
|
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg)
|
rs368568171
|
0.00001
|
|
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)
|
rs1284882385
|
0.00001
|
|
NM_000404.4(GLB1):c.948T>C (p.Tyr316=)
|
rs754967848
|
0.00001
|
|
NM_000404.4(GLB1):c.972T>C (p.Tyr324=)
|
rs1342444418
|
0.00001
|
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
|
NM_000434.3(NEU1):c.-49C>T
|
rs374172739
|
0.00001
|
|
NM_000434.3(NEU1):c.-76C>G
|
rs566696697
|
0.00001
|
|
NM_000434.4(NEU1):c.-13G>A
|
rs886061291
|
0.00001
|
|
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro)
|
rs193922915
|
0.00001
|
|
NM_000434.4(NEU1):c.1089A>G (p.Leu363=)
|
rs757684373
|
0.00001
|
|
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu)
|
rs1762428314
|
0.00001
|
|
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)
|
rs763212486
|
0.00001
|
|
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr)
|
rs1762543434
|
0.00001
|
|
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu)
|
rs104893985
|
0.00001
|
|
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp)
|
rs886061289
|
0.00001
|
|
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly)
|
rs398123392
|
0.00001
|
|
NM_000434.4(NEU1):c.615G>A (p.Gln205=)
|
rs781137251
|
0.00001
|
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
|
NM_000434.4(NEU1):c.692T>A (p.Leu231His)
|
rs762400331
|
0.00001
|
|
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg)
|
rs104893978
|
0.00001
|
|
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg)
|
rs104893983
|
0.00001
|
|
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr)
|
rs104893977
|
0.00001
|
|
NM_000434.4(NEU1):c.826G>A (p.Val276Ile)
|
rs199697301
|
0.00001
|
|
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter)
|
rs945372017
|
0.00001
|
|
NM_000434.4(NEU1):c.888T>C (p.Tyr296=)
|
rs754422982
|
0.00001
|
|
NM_000434.4(NEU1):c.914G>A (p.Arg305His)
|
rs774362886
|
0.00001
|
|
NM_000458.4(HNF1B):c.*789T>C
|
rs886052887
|
0.00001
|
|
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe)
|
rs780035561
|
0.00001
|
|
NM_000458.4(HNF1B):c.1057A>G (p.Ser353Gly)
|
rs753847783
|
0.00001
|
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
|
NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser)
|
rs765654692
|
0.00001
|
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
|
NM_000458.4(HNF1B):c.1414G>A (p.Val472Ile)
|
rs762841746
|
0.00001
|
|
NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys)
|
rs770078634
|
0.00001
|
|
NM_000458.4(HNF1B):c.1591G>C (p.Ala531Pro)
|
rs752480540
|
0.00001
|
|
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala)
|
rs1352906725
|
0.00001
|
|
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)
|
rs772315985
|
0.00001
|
|
NM_000458.4(HNF1B):c.345-11T>G
|
rs200782591
|
0.00001
|
|
NM_000458.4(HNF1B):c.430G>A (p.Gly144Ser)
|
rs374126219
|
0.00001
|
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
|
NM_000458.4(HNF1B):c.66C>A (p.Thr22=)
|
rs906719754
|
0.00001
|
|
NM_000458.4(HNF1B):c.699C>T (p.Arg233=)
|
rs1365215108
|
0.00001
|
|
NM_000458.4(HNF1B):c.810-17C>T
|
rs759382717
|
0.00001
|
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
|
NM_000458.4(HNF1B):c.974G>A (p.Ser325Asn)
|
rs794727624
|
0.00001
|
|
NM_000507.4(FBP1):c.324G>A (p.Pro108=)
|
rs745724824
|
0.00001
|
|
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
|
rs368583779
|
0.00001
|
|
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
|
rs753167849
|
0.00001
|
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
|
NM_000507.4(FBP1):c.639C>T (p.Asn213=)
|
rs762007074
|
0.00001
|
|
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
|
rs369420846
|
0.00001
|
|
NM_000507.4(FBP1):c.705A>G (p.Pro235=)
|
rs112446147
|
0.00001
|
|
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)
|
rs775808681
|
0.00001
|
|
NM_000507.4(FBP1):c.777C>T (p.Tyr259=)
|
rs1435646320
|
0.00001
|
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
|
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)
|
rs758841300
|
0.00001
|
|
NM_000507.4(FBP1):c.916G>A (p.Val306Ile)
|
rs865779742
|
0.00001
|
|
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)
|
rs201508880
|
0.00001
|
|
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro)
|
rs759227114
|
0.00001
|
|
NM_000507.4(FBP1):c.978C>T (p.Leu326=)
|
rs774118438
|
0.00001
|
|
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
|
rs1564191912
|
0.00001
|
|
NM_000512.5(GALNS):c.*144T>C
|
rs1157099470
|
0.00001
|
|
NM_000512.5(GALNS):c.*186C>G
|
rs1032068378
|
0.00001
|
|
NM_000512.5(GALNS):c.*20C>G
|
rs886052454
|
0.00001
|
|
NM_000512.5(GALNS):c.*503T>G
|
rs573836350
|
0.00001
|
|
NM_000512.5(GALNS):c.*639T>G
|
rs1186947306
|
0.00001
|
|
NM_000512.5(GALNS):c.*86C>T
|
rs897826613
|
0.00001
|
|
NM_000512.5(GALNS):c.1002+11G>A
|
rs777624961
|
0.00001
|
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
|
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
|
rs767131589
|
0.00001
|
|
NM_000512.5(GALNS):c.1062C>T (p.Gly354=)
|
rs1910972322
|
0.00001
|
|
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
|
rs1017572961
|
0.00001
|
|
NM_000512.5(GALNS):c.106C>T (p.Leu36=)
|
rs779849307
|
0.00001
|
|
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
|
rs368784505
|
0.00001
|
|
NM_000512.5(GALNS):c.1125C>T (p.Gly375=)
|
rs773846201
|
0.00001
|
|
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
|
rs762690924
|
0.00001
|
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
|
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)
|
rs752339162
|
0.00001
|
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
|
NM_000512.5(GALNS):c.1176G>A (p.Ala392=)
|
rs398123431
|
0.00001
|
|
NM_000512.5(GALNS):c.1182C>A (p.Thr394=)
|
rs1414082372
|
0.00001
|
|
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
|
rs1967935603
|
0.00001
|
|
NM_000512.5(GALNS):c.121-31T>C
|
rs776895500
|
0.00001
|
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
|
NM_000512.5(GALNS):c.1230G>A (p.Glu410=)
|
rs567507214
|
0.00001
|
|
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
|
NM_000512.5(GALNS):c.1319del (p.Leu440fs)
|
rs1567517083
|
0.00001
|
|
NM_000512.5(GALNS):c.1377C>T (p.Ala459=)
|
rs757704061
|
0.00001
|
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
|
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)
|
rs1415400985
|
0.00001
|
|
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
|
rs781512359
|
0.00001
|
|
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)
|
rs1909820489
|
0.00001
|
|
NM_000512.5(GALNS):c.1461C>T (p.Asn487=)
|
rs1273463889
|
0.00001
|
|
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)
|
rs753344649
|
0.00001
|
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-1G>A
|
rs1223848239
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-1G>C
|
rs1223848239
|
0.00001
|
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
|
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser)
|
rs1454253268
|
0.00001
|
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
|
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)
|
rs398123433
|
0.00001
|
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
|
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
|
rs1967037775
|
0.00001
|
|
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)
|
rs1367462378
|
0.00001
|
|
NM_000512.5(GALNS):c.1A>G (p.Met1Val)
|
rs771531650
|
0.00001
|
|
NM_000512.5(GALNS):c.1A>T (p.Met1Leu)
|
rs771531650
|
0.00001
|
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
|
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
|
rs765151762
|
0.00001
|
|
NM_000512.5(GALNS):c.243A>G (p.Pro81=)
|
rs759476855
|
0.00001
|
|
NM_000512.5(GALNS):c.244+20G>A
|
rs373227121
|
0.00001
|
|
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro)
|
rs1338871013
|
0.00001
|
|
NM_000512.5(GALNS):c.251C>T (p.Ala84Val)
|
rs141340188
|
0.00001
|
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
|
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn)
|
rs1966993165
|
0.00001
|
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
|
NM_000512.5(GALNS):c.320-13G>A
|
rs113186480
|
0.00001
|
|
NM_000512.5(GALNS):c.320-1G>T
|
rs1245504167
|
0.00001
|
|
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)
|
rs979373729
|
0.00001
|
|
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter)
|
rs1177468816
|
0.00001
|
|
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser)
|
rs766859208
|
0.00001
|
|
NM_000512.5(GALNS):c.399C>T (p.Tyr133=)
|
rs761206910
|
0.00001
|
|
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln)
|
rs750953060
|
0.00001
|
|
NM_000512.5(GALNS):c.422+17C>T
|
rs748212930
|
0.00001
|
|
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)
|
rs746862066
|
0.00001
|
|
NM_000512.5(GALNS):c.441C>T (p.Pro147=)
|
rs756456652
|
0.00001
|
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
0.00001
|
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
|
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)
|
rs763093375
|
0.00001
|
|
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter)
|
rs779545826
|
0.00001
|
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
|
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)
|
rs771810111
|
0.00001
|
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
|
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
|
rs1427287935
|
0.00001
|
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
|
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)
|
rs1228027865
|
0.00001
|
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
|
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)
|
rs769560969
|
0.00001
|
|
NM_000512.5(GALNS):c.759-3C>G
|
rs776430057
|
0.00001
|
|
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg)
|
rs1336648211
|
0.00001
|
|
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu)
|
rs1912009292
|
0.00001
|
|
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)
|
rs773283163
|
0.00001
|
|
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
|
rs772097990
|
0.00001
|
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
|
NM_000512.5(GALNS):c.898+1G>A
|
rs761850746
|
0.00001
|
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
|
NM_000512.5(GALNS):c.898+4A>G
|
rs774518058
|
0.00001
|
|
NM_000512.5(GALNS):c.899-13C>T
|
rs938443899
|
0.00001
|
|
NM_000512.5(GALNS):c.899-1G>C
|
rs745523154
|
0.00001
|
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
|
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)
|
rs1057518404
|
0.00001
|
|
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)
|
rs556060696
|
0.00001
|
|
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
|
NM_000512.5(GALNS):c.987C>T (p.His329=)
|
rs750730964
|
0.00001
|
|
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
|
rs767856715
|
0.00001
|
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
|
NM_000525.4(KCNJ11):c.*1220G>A
|
rs1457465996
|
0.00001
|
|
NM_000525.4(KCNJ11):c.*1562A>G
|
rs886048031
|
0.00001
|
|
NM_000525.4(KCNJ11):c.*701A>T
|
rs5207
|
0.00001
|
|
NM_000525.4(KCNJ11):c.-37C>T
|
rs753392628
|
0.00001
|
|
NM_000525.4(KCNJ11):c.-515G>A
|
rs886048044
|
0.00001
|
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)
|
rs745379486
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)
|
rs797045635
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1077G>A (p.Leu359=)
|
rs777788092
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr)
|
rs755839409
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)
|
rs750689750
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)
|
rs371275937
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1123A>G (p.Met375Val)
|
rs777540229
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
|
rs1450567888
|
0.00001
|
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
|
NM_000525.4(KCNJ11):c.174C>T (p.Asp58=)
|
rs1237212288
|
0.00001
|
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
|
NM_000525.4(KCNJ11):c.291C>T (p.His97=)
|
rs371886780
|
0.00001
|
|
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=)
|
rs104894236
|
0.00001
|
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
|
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)
|
rs371977895
|
0.00001
|
|
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)
|
rs761588360
|
0.00001
|
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
|
NM_000525.4(KCNJ11):c.480C>T (p.Asn160=)
|
rs568688504
|
0.00001
|
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
|
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=)
|
rs1260020267
|
0.00001
|
|
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=)
|
rs759487287
|
0.00001
|
|
NM_000525.4(KCNJ11):c.661C>T (p.Arg221Cys)
|
rs781450902
|
0.00001
|
|
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)
|
rs746308356
|
0.00001
|
|
NM_000525.4(KCNJ11):c.697C>A (p.Leu233Ile)
|
rs1564865302
|
0.00001
|
|
NM_000525.4(KCNJ11):c.719T>G (p.Met240Arg)
|
rs886042818
|
0.00001
|
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
|
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)
|
rs754683593
|
0.00001
|
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
|
NM_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)
|
rs763728797
|
0.00001
|
|
NM_000528.4(MAN2B1):c.-19A>G
|
rs886054234
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1008C>A (p.Ile336=)
|
rs781438438
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=)
|
rs1389459819
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1026+7G>T
|
rs767145790
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=)
|
rs765139571
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)
|
rs864621992
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)
|
rs746182835
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu)
|
rs745579139
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)
|
rs778554304
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1136C>T (p.Pro379Leu)
|
rs864621981
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val)
|
rs971436574
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=)
|
rs749011134
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1221C>T (p.Asn407=)
|
rs766462027
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1230+7A>T
|
rs2024019411
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His)
|
rs563097824
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1231-8G>T
|
rs773727577
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1245G>A (p.Leu415=)
|
rs2024015718
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1290C>T (p.Ser430=)
|
rs757526946
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1309+10G>A
|
rs1424931652
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1309+9C>T
|
rs756595469
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)
|
rs370036738
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val)
|
rs867708818
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1329C>A (p.Leu443=)
|
rs781687405
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro)
|
rs1470391256
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1341C>T (p.Asp447=)
|
rs529471612
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile)
|
rs764898305
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1419+12G>A
|
rs755497429
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1419+7G>C
|
rs1235244356
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1419+8G>A
|
rs1427796893
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1420-19C>A
|
rs1283596905
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1420-1G>A
|
rs752229880
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe)
|
rs1276104443
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1440G>C (p.Leu480=)
|
rs1159688563
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg)
|
rs2023977189
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1527+7C>T
|
rs1214746235
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1528-10G>A
|
rs561164635
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)
|
rs2023967508
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1578A>T (p.Val526=)
|
rs768096085
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)
|
rs748872992
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu)
|
rs1330706618
|
0.00001
|
|
NM_000528.4(MAN2B1):c.159+20T>C
|
rs1258867565
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1590C>T (p.Val530=)
|
rs528580176
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1593C>T (p.Ser531=)
|
rs757131800
|
0.00001
|
|
NM_000528.4(MAN2B1):c.160-5T>C
|
rs902325469
|
0.00001
|
|
NM_000528.4(MAN2B1):c.162A>G (p.Thr54=)
|
rs1441130613
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-1G>A
|
rs938576591
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1645-7A>G
|
rs1384851767
|
0.00001
|
|
NM_000528.4(MAN2B1):c.165C>T (p.Cys55=)
|
rs1369828870
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)
|
rs1057516927
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1695G>A (p.Leu565=)
|
rs748152945
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1708C>T (p.Leu570=)
|
rs150479159
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr)
|
rs766021102
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1782G>A (p.Gln594=)
|
rs573996230
|
0.00001
|
|
NM_000528.4(MAN2B1):c.180G>A (p.Pro60=)
|
rs1043541354
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser)
|
rs539124424
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
|
rs1481077295
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1953C>T (p.Asn651=)
|
rs547133035
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys)
|
rs756680048
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1992C>T (p.Pro664=)
|
rs1207243486
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1994A>T (p.Asn665Ile)
|
rs762894770
|
0.00001
|
|
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)
|
rs1290585382
|
0.00001
|
|
NM_000528.4(MAN2B1):c.201G>A (p.Leu67=)
|
rs1329607881
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2043G>A (p.Val681=)
|
rs1459767457
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2046+16T>G
|
rs747744607
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met)
|
rs778745390
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile)
|
rs561720564
|
0.00001
|
|
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)
|
rs1458969193
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2151G>A (p.Gly717=)
|
rs746606611
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2165+8G>A
|
rs1318041798
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2166-12C>G
|
rs771668348
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2178G>A (p.Gly726=)
|
rs1475690846
|
0.00001
|
|
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)
|
rs781046464
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2193C>T (p.Ser731=)
|
rs1396810329
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu)
|
rs1270784757
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2208G>A (p.Pro736=)
|
rs750890285
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His)
|
rs370551216
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2226C>T (p.Arg742=)
|
rs774156075
|
0.00001
|
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2265G>A (p.Arg755=)
|
rs1177894927
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2267+1G>A
|
rs1022927322
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2271G>T (p.Arg757=)
|
rs746029937
|
0.00001
|
|
NM_000528.4(MAN2B1):c.228C>T (p.Gly76=)
|
rs2024218273
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
|
rs772742355
|
0.00001
|
|
NM_000528.4(MAN2B1):c.240C>T (p.Thr80=)
|
rs772053358
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2436+2T>C
|
rs398123457
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2437-6C>T
|
rs1021381108
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2478G>A (p.Ser826=)
|
rs958869615
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr)
|
rs1438173166
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2493G>A (p.Glu831=)
|
rs991095656
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2499G>A (p.Gly833=)
|
rs886750475
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)
|
rs760097655
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2526C>T (p.His842=)
|
rs761344747
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2547C>G (p.Ala849=)
|
rs1040271670
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val)
|
rs775204651
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2583G>A (p.Glu861=)
|
rs778022209
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2616C>T (p.Ala872=)
|
rs1211391418
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2664+16G>A
|
rs1272824272
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2671G>A (p.Gly891Arg)
|
rs864621988
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2676G>A (p.Leu892=)
|
rs750952284
|
0.00001
|
|
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)
|
rs1170799731
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2712G>C (p.Thr904=)
|
rs773210333
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)
|
rs929568109
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)
|
rs755553683
|
0.00001
|
|
NM_000528.4(MAN2B1):c.27G>C (p.Gly9=)
|
rs1428387159
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile)
|
rs765269491
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2820+1G>A
|
rs768734132
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2821-19C>T
|
rs1187808331
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2846C>T (p.Thr949Ile)
|
rs377567861
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2877C>T (p.Asn959=)
|
rs544567546
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)
|
rs750173812
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2892A>G (p.Ala964=)
|
rs377438700
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg)
|
rs1323141015
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu)
|
rs373174565
|
0.00001
|
|
NM_000528.4(MAN2B1):c.2961G>A (p.Pro987=)
|
rs369658144
|
0.00001
|
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
|
NM_000528.4(MAN2B1):c.3024G>A (p.Glu1008=)
|
rs770441236
|
0.00001
|
|
NM_000528.4(MAN2B1):c.3033T>C (p.Gly1011=)
|
rs1388469279
|
0.00001
|
|
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
|
rs1369134650
|
0.00001
|
|
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)
|
rs1175779934
|
0.00001
|
|
NM_000528.4(MAN2B1):c.321C>T (p.Ala107=)
|
rs200373194
|
0.00001
|
|
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser)
|
rs1312728452
|
0.00001
|
|
NM_000528.4(MAN2B1):c.354C>T (p.Tyr118=)
|
rs150012768
|
0.00001
|
|
NM_000528.4(MAN2B1):c.366C>G (p.Ala122=)
|
rs1258536041
|
0.00001
|
|
NM_000528.4(MAN2B1):c.402C>T (p.Ala134=)
|
rs1399051966
|
0.00001
|
|
NM_000528.4(MAN2B1):c.414C>T (p.Val138=)
|
rs1196427185
|
0.00001
|
|
NM_000528.4(MAN2B1):c.422del (p.Asp141fs)
|
rs778399351
|
0.00001
|
|
NM_000528.4(MAN2B1):c.436+7C>T
|
rs769700077
|
0.00001
|
|
NM_000528.4(MAN2B1):c.436G>A (p.Gly146Arg)
|
rs767951916
|
0.00001
|
|
NM_000528.4(MAN2B1):c.437-8T>C
|
rs377203049
|
0.00001
|
|
NM_000528.4(MAN2B1):c.444G>C (p.Leu148=)
|
rs794727626
|
0.00001
|
|
NM_000528.4(MAN2B1):c.450C>T (p.Phe150=)
|
rs776494571
|
0.00001
|
|
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)
|
rs1216161567
|
0.00001
|
|
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn)
|
rs864621976
|
0.00001
|
|
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly)
|
rs755738320
|
0.00001
|
|
NM_000528.4(MAN2B1):c.51C>T (p.Asp17=)
|
rs747792561
|
0.00001
|
|
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr)
|
rs1346520961
|
0.00001
|
|
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)
|
rs1429239930
|
0.00001
|
|
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
|
rs750137512
|
0.00001
|
|
NM_000528.4(MAN2B1):c.591C>T (p.Pro197=)
|
rs753665587
|
0.00001
|
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
|
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp)
|
rs1220611493
|
0.00001
|
|
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys)
|
rs776241681
|
0.00001
|
|
NM_000528.4(MAN2B1):c.618G>A (p.Ser206=)
|
rs1287151465
|
0.00001
|
|
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met)
|
rs778300782
|
0.00001
|
|
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
|
rs1408334891
|
0.00001
|
|
NM_000528.4(MAN2B1):c.630+9C>T
|
rs756927782
|
0.00001
|
|
NM_000528.4(MAN2B1):c.631-9C>T
|
rs756874617
|
0.00001
|
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
|
NM_000528.4(MAN2B1):c.75C>G (p.Ser25=)
|
rs1178249579
|
0.00001
|
|
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly)
|
rs1407251533
|
0.00001
|
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
|
NM_000528.4(MAN2B1):c.822C>T (p.Val274=)
|
rs750447748
|
0.00001
|
|
NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu)
|
rs779091097
|
0.00001
|
|
NM_000528.4(MAN2B1):c.831G>A (p.Pro277=)
|
rs757417272
|
0.00001
|
|
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=)
|
rs886054232
|
0.00001
|
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
|
NM_000528.4(MAN2B1):c.879C>T (p.Val293=)
|
rs746756800
|
0.00001
|
|
NM_000528.4(MAN2B1):c.889C>T (p.Leu297=)
|
rs771874603
|
0.00001
|
|
NM_000528.4(MAN2B1):c.906C>T (p.Ala302=)
|
rs749372996
|
0.00001
|
|
NM_000528.4(MAN2B1):c.914G>A (p.Arg305Gln)
|
rs781394900
|
0.00001
|
|
NM_000528.4(MAN2B1):c.915G>T (p.Arg305=)
|
rs755994517
|
0.00001
|
|
NM_000528.4(MAN2B1):c.927C>T (p.Thr309=)
|
rs759023914
|
0.00001
|
|
NM_000528.4(MAN2B1):c.945C>T (p.Thr315=)
|
rs2024099652
|
0.00001
|
|
NM_000528.4(MAN2B1):c.946A>G (p.Met316Val)
|
rs373636903
|
0.00001
|
|
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)
|
rs1471471874
|
0.00001
|
|
NM_000528.4(MAN2B1):c.96C>T (p.Leu32=)
|
rs1253976874
|
0.00001
|
|
NM_000545.8(HNF1A):c.-4A>G
|
rs561269721
|
0.00001
|
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
|
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg)
|
rs368683806
|
0.00001
|
|
NM_000545.8(HNF1A):c.1281C>T (p.Thr427=)
|
rs1345001140
|
0.00001
|
|
NM_000545.8(HNF1A):c.1309+238G>A
|
rs564888406
|
0.00001
|
|
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)
|
rs137853236
|
0.00001
|
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
|
NM_000545.8(HNF1A):c.1478T>C (p.Met493Thr)
|
rs1002380887
|
0.00001
|
|
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)
|
rs138145827
|
0.00001
|
|
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)
|
rs371807951
|
0.00001
|
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
|
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)
|
rs753702603
|
0.00001
|
|
NM_000545.8(HNF1A):c.153C>T (p.Gly51=)
|
rs761779651
|
0.00001
|
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
|
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)
|
rs775608608
|
0.00001
|
|
NM_000545.8(HNF1A):c.1623+20G>A
|
rs1012229716
|
0.00001
|
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
|
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
|
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)
|
rs751368921
|
0.00001
|
|
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)
|
rs928744634
|
0.00001
|
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
|
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=)
|
rs756416683
|
0.00001
|
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
|
NM_000545.8(HNF1A):c.246G>A (p.Thr82=)
|
rs752243228
|
0.00001
|
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
|
NM_000545.8(HNF1A):c.503G>A (p.Arg168His)
|
rs377110124
|
0.00001
|
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
|
NM_000545.8(HNF1A):c.537T>C (p.His179=)
|
rs765329757
|
0.00001
|
|
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr)
|
rs587778396
|
0.00001
|
|
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)
|
rs893256143
|
0.00001
|
|
NM_000545.8(HNF1A):c.608G>A (p.Arg203His)
|
rs587780357
|
0.00001
|
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
|
NM_000545.8(HNF1A):c.685C>A (p.Arg229=)
|
rs769086289
|
0.00001
|
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
|
NM_000545.8(HNF1A):c.759G>T (p.Gly253=)
|
rs749946974
|
0.00001
|
|
NM_000545.8(HNF1A):c.775G>A (p.Val259Ile)
|
rs778074427
|
0.00001
|
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
|
NM_000545.8(HNF1A):c.812G>A (p.Arg271Gln)
|
rs779184183
|
0.00001
|
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
|
NM_000545.8(HNF1A):c.894G>A (p.Ala298=)
|
rs951696015
|
0.00001
|
|
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
|
NM_000642.3(AGL):c.*1047A>T
|
rs886044930
|
0.00001
|
|
NM_000642.3(AGL):c.*1860G>T
|
rs1433664193
|
0.00001
|
|
NM_000642.3(AGL):c.*1971T>C
|
rs139068984
|
0.00001
|
|
NM_000642.3(AGL):c.*229A>G
|
rs979215337
|
0.00001
|
|
NM_000642.3(AGL):c.*257C>A
|
rs1355749991
|
0.00001
|
|
NM_000642.3(AGL):c.*680T>A
|
rs886044928
|
0.00001
|
|
NM_000642.3(AGL):c.*682A>G
|
rs1177397896
|
0.00001
|
|
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)
|
rs781580050
|
0.00001
|
|
NM_000642.3(AGL):c.101G>A (p.Arg34Gln)
|
rs746265668
|
0.00001
|
|
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)
|
rs140872573
|
0.00001
|
|
NM_000642.3(AGL):c.1064C>T (p.Thr355Met)
|
rs557516658
|
0.00001
|
|
NM_000642.3(AGL):c.1071C>T (p.Phe357=)
|
rs1651362578
|
0.00001
|
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
|
NM_000642.3(AGL):c.1082+10G>A
|
rs190435682
|
0.00001
|
|
NM_000642.3(AGL):c.1082+1G>C
|
rs751112302
|
0.00001
|
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
|
NM_000642.3(AGL):c.1082+8A>G
|
rs1375533728
|
0.00001
|
|
NM_000642.3(AGL):c.1083-4C>G
|
rs750423236
|
0.00001
|
|
NM_000642.3(AGL):c.108C>T (p.Gly36=)
|
rs374064723
|
0.00001
|
|
NM_000642.3(AGL):c.1137G>A (p.Glu379=)
|
rs1208595973
|
0.00001
|
|
NM_000642.3(AGL):c.1149A>G (p.Ser383=)
|
rs1651412702
|
0.00001
|
|
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
|
rs775949246
|
0.00001
|
|
NM_000642.3(AGL):c.1191T>C (p.Val397=)
|
rs542462353
|
0.00001
|
|
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr)
|
rs1336333560
|
0.00001
|
|
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
|
rs1275707003
|
0.00001
|
|
NM_000642.3(AGL):c.1200T>C (p.Leu400=)
|
rs1651434860
|
0.00001
|
|
NM_000642.3(AGL):c.1218T>C (p.Tyr406=)
|
rs200607707
|
0.00001
|
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
|
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
|
rs762046235
|
0.00001
|
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
0.00001
|
|
NM_000642.3(AGL):c.1255G>A (p.Val419Ile)
|
rs1236981513
|
0.00001
|
|
NM_000642.3(AGL):c.1283+5_1283+6insA
|
rs1651444028
|
0.00001
|
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
|
NM_000642.3(AGL):c.1293T>C (p.Thr431=)
|
rs750734739
|
0.00001
|
|
NM_000642.3(AGL):c.129A>G (p.Ala43=)
|
rs760568854
|
0.00001
|
|
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
|
rs1382017908
|
0.00001
|
|
NM_000642.3(AGL):c.1359T>C (p.Cys453=)
|
rs1486903759
|
0.00001
|
|
NM_000642.3(AGL):c.135C>T (p.Thr45=)
|
rs752964406
|
0.00001
|
|
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
|
rs1184815690
|
0.00001
|
|
NM_000642.3(AGL):c.1386A>C (p.Val462=)
|
rs201533331
|
0.00001
|
|
NM_000642.3(AGL):c.1387A>G (p.Met463Val)
|
rs1557759698
|
0.00001
|
|
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
|
rs775358277
|
0.00001
|
|
NM_000642.3(AGL):c.1389G>A (p.Met463Ile)
|
rs749084039
|
0.00001
|
|
NM_000642.3(AGL):c.1424-7T>A
|
rs570061109
|
0.00001
|
|
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
|
rs371406517
|
0.00001
|
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
|
NM_000642.3(AGL):c.1440A>G (p.Leu480=)
|
rs1012286863
|
0.00001
|
|
NM_000642.3(AGL):c.1455T>C (p.Ile485=)
|
rs375412979
|
0.00001
|
|
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
|
rs746119079
|
0.00001
|
|
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
|
rs367591347
|
0.00001
|
|
NM_000642.3(AGL):c.153A>G (p.Pro51=)
|
rs1263017347
|
0.00001
|
|
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
|
rs766138863
|
0.00001
|
|
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser)
|
rs1293030648
|
0.00001
|
|
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
|
rs1267203580
|
0.00001
|
|
NM_000642.3(AGL):c.1571G>A (p.Arg524His)
|
rs758182700
|
0.00001
|
|
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)
|
rs777393482
|
0.00001
|
|
NM_000642.3(AGL):c.1612-5T>C
|
rs988791083
|
0.00001
|
|
NM_000642.3(AGL):c.1618T>C (p.Leu540=)
|
rs751245907
|
0.00001
|
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
|
NM_000642.3(AGL):c.1651T>C (p.Tyr551His)
|
rs748270013
|
0.00001
|
|
NM_000642.3(AGL):c.1667T>C (p.Leu556Pro)
|
rs1367922922
|
0.00001
|
|
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn)
|
rs1365513585
|
0.00001
|
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
|
NM_000642.3(AGL):c.1736-10T>C
|
rs1651931690
|
0.00001
|
|
NM_000642.3(AGL):c.1746T>C (p.Ser582=)
|
rs775280047
|
0.00001
|
|
NM_000642.3(AGL):c.1747G>A (p.Ala583Thr)
|
rs762347255
|
0.00001
|
|
NM_000642.3(AGL):c.1749A>G (p.Ala583=)
|
rs577669321
|
0.00001
|
|
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter)
|
rs765367405
|
0.00001
|
|
NM_000642.3(AGL):c.1788T>C (p.Tyr596=)
|
rs777871903
|
0.00001
|
|
NM_000642.3(AGL):c.1797A>G (p.Glu599=)
|
rs757782780
|
0.00001
|
|
NM_000642.3(AGL):c.1842A>G (p.Pro614=)
|
rs1570443640
|
0.00001
|
|
NM_000642.3(AGL):c.1858C>G (p.Leu620Val)
|
rs200933503
|
0.00001
|
|
NM_000642.3(AGL):c.1874C>T (p.Thr625Met)
|
rs147569805
|
0.00001
|
|
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
|
rs778524671
|
0.00001
|
|
NM_000642.3(AGL):c.1880A>G (p.Asp627Gly)
|
rs764236940
|
0.00001
|
|
NM_000642.3(AGL):c.1889G>T (p.Cys630Phe)
|
rs757479682
|
0.00001
|
|
NM_000642.3(AGL):c.1899+3A>G
|
rs1461972561
|
0.00001
|
|
NM_000642.3(AGL):c.1900-10T>C
|
rs1651974769
|
0.00001
|
|
NM_000642.3(AGL):c.1900-2A>G
|
rs1254391875
|
0.00001
|
|
NM_000642.3(AGL):c.1900-7C>T
|
rs1037923713
|
0.00001
|
|
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr)
|
rs372501843
|
0.00001
|
|
NM_000642.3(AGL):c.1910C>T (p.Ala637Val)
|
rs1488937187
|
0.00001
|
|
NM_000642.3(AGL):c.1939G>A (p.Val647Ile)
|
rs770836797
|
0.00001
|
|
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys)
|
rs1229397880
|
0.00001
|
|
NM_000642.3(AGL):c.1963G>A (p.Gly655Arg)
|
rs1651984153
|
0.00001
|
|
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
|
rs773274876
|
0.00001
|
|
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)
|
rs188519129
|
0.00001
|
|
NM_000642.3(AGL):c.2001+13G>A
|
rs765550969
|
0.00001
|
|
NM_000642.3(AGL):c.2001+3T>G
|
rs1392738838
|
0.00001
|
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
|
NM_000642.3(AGL):c.2010G>A (p.Val670=)
|
rs1342629251
|
0.00001
|
|
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
|
rs1243258727
|
0.00001
|
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
|
NM_000642.3(AGL):c.2025G>A (p.Arg675=)
|
rs763377186
|
0.00001
|
|
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys)
|
rs756760991
|
0.00001
|
|
NM_000642.3(AGL):c.2049A>G (p.Glu683=)
|
rs1015495997
|
0.00001
|
|
NM_000642.3(AGL):c.2051C>T (p.Ala684Val)
|
rs1284824337
|
0.00001
|
|
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
|
rs780205320
|
0.00001
|
|
NM_000642.3(AGL):c.2082C>T (p.Phe694=)
|
rs1447806992
|
0.00001
|
|
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
|
rs1299427640
|
0.00001
|
|
NM_000642.3(AGL):c.2100A>G (p.Ala700=)
|
rs1176932146
|
0.00001
|
|
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
|
rs776037609
|
0.00001
|
|
NM_000642.3(AGL):c.2147G>A (p.Gly716Asp)
|
rs751975324
|
0.00001
|
|
NM_000642.3(AGL):c.2157+4A>T
|
rs1178861512
|
0.00001
|
|
NM_000642.3(AGL):c.2160G>A (p.Val720=)
|
rs778526669
|
0.00001
|
|
NM_000642.3(AGL):c.2193A>G (p.Ala731=)
|
rs1652031034
|
0.00001
|
|
NM_000642.3(AGL):c.2199A>T (p.Thr733=)
|
rs775946126
|
0.00001
|
|
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
|
rs1652034728
|
0.00001
|
|
NM_000642.3(AGL):c.2220T>A (p.His740Gln)
|
rs767062664
|
0.00001
|
|
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
|
rs1264891129
|
0.00001
|
|
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu)
|
rs746130741
|
0.00001
|
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
|
NM_000642.3(AGL):c.22del (p.Arg8fs)
|
rs1215043175
|
0.00001
|
|
NM_000642.3(AGL):c.2308+11C>A
|
rs887815190
|
0.00001
|
|
NM_000642.3(AGL):c.2308+4A>G
|
rs773741361
|
0.00001
|
|
NM_000642.3(AGL):c.2309-1G>A
|
rs786204481
|
0.00001
|
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
|
NM_000642.3(AGL):c.2309-8A>G
|
rs1479026743
|
0.00001
|
|
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu)
|
rs1237999305
|
0.00001
|
|
NM_000642.3(AGL):c.231T>C (p.Ser77=)
|
rs1650046839
|
0.00001
|
|
NM_000642.3(AGL):c.2337T>C (p.Ala779=)
|
rs928189171
|
0.00001
|
|
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
|
rs769386639
|
0.00001
|
|
NM_000642.3(AGL):c.2358G>A (p.Thr786=)
|
rs764022108
|
0.00001
|
|
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)
|
rs145720433
|
0.00001
|
|
NM_000642.3(AGL):c.2367T>C (p.Tyr789=)
|
rs766564503
|
0.00001
|
|
NM_000642.3(AGL):c.2370G>A (p.Arg790=)
|
rs1652265835
|
0.00001
|
|
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys)
|
rs1284127927
|
0.00001
|
|
NM_000642.3(AGL):c.2433+9G>A
|
rs775007907
|
0.00001
|
|
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala)
|
rs1316494416
|
0.00001
|
|
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala)
|
rs752820851
|
0.00001
|
|
NM_000642.3(AGL):c.2481G>C (p.Gly827=)
|
rs1323938645
|
0.00001
|
|
NM_000642.3(AGL):c.248T>G (p.Leu83Arg)
|
rs560703902
|
0.00001
|
|
NM_000642.3(AGL):c.2520_2524dup (p.Pro842fs)
|
rs759727721
|
0.00001
|
|
NM_000642.3(AGL):c.2550T>C (p.Val850=)
|
rs750784772
|
0.00001
|
|
NM_000642.3(AGL):c.2571A>G (p.Gln857=)
|
rs373619867
|
0.00001
|
|
NM_000642.3(AGL):c.2574C>T (p.Val858=)
|
rs772038934
|
0.00001
|
|
NM_000642.3(AGL):c.2576C>T (p.Ala859Val)
|
rs746800661
|
0.00001
|
|
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)
|
rs776599112
|
0.00001
|
|
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
|
rs367713487
|
0.00001
|
|
NM_000642.3(AGL):c.25A>G (p.Ile9Val)
|
rs1263396578
|
0.00001
|
|
NM_000642.3(AGL):c.2622T>C (p.Phe874=)
|
rs768045638
|
0.00001
|
|
NM_000642.3(AGL):c.2648A>G (p.Asn883Ser)
|
rs754212372
|
0.00001
|
|
NM_000642.3(AGL):c.2652A>G (p.Ala884=)
|
rs1164739409
|
0.00001
|
|
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
|
rs778448781
|
0.00001
|
|
NM_000642.3(AGL):c.2680T>C (p.Ser894Pro)
|
rs200856850
|
0.00001
|
|
NM_000642.3(AGL):c.2681C>T (p.Ser894Phe)
|
rs866082714
|
0.00001
|
|
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
|
rs777099171
|
0.00001
|
|
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser)
|
rs757076841
|
0.00001
|
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
|
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter)
|
rs773095419
|
0.00001
|
|
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
|
rs199868334
|
0.00001
|
|
NM_000642.3(AGL):c.2763G>C (p.Gly921=)
|
rs765549237
|
0.00001
|
|
NM_000642.3(AGL):c.2769T>C (p.Tyr923=)
|
rs1440014744
|
0.00001
|
|
NM_000642.3(AGL):c.276del (p.Gln92fs)
|
rs1057517243
|
0.00001
|
|
NM_000642.3(AGL):c.2773A>G (p.Ile925Val)
|
rs763812355
|
0.00001
|
|
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
|
rs756888005
|
0.00001
|
|
NM_000642.3(AGL):c.2800G>A (p.Ala934Thr)
|
rs1652588223
|
0.00001
|
|
NM_000642.3(AGL):c.2812+7A>G
|
rs767206115
|
0.00001
|
|
NM_000642.3(AGL):c.2812+9A>G
|
rs1353678276
|
0.00001
|
|
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
|
rs1336583652
|
0.00001
|
|
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp)
|
rs370787356
|
0.00001
|
|
NM_000642.3(AGL):c.2921T>C (p.Leu974Pro)
|
rs1652882425
|
0.00001
|
|
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter)
|
rs531425980
|
0.00001
|
|
NM_000642.3(AGL):c.294-6C>T
|
rs368295546
|
0.00001
|
|
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
|
rs138333678
|
0.00001
|
|
NM_000642.3(AGL):c.2950G>A (p.Val984Ile)
|
rs1160721945
|
0.00001
|
|
NM_000642.3(AGL):c.2955T>C (p.Gly985=)
|
rs1383175689
|
0.00001
|
|
NM_000642.3(AGL):c.2972T>C (p.Met991Thr)
|
rs1412424871
|
0.00001
|
|
NM_000642.3(AGL):c.3012A>G (p.Pro1004=)
|
rs762797491
|
0.00001
|
|
NM_000642.3(AGL):c.3014del (p.Cys1005fs)
|
rs754653701
|
0.00001
|
|
NM_000642.3(AGL):c.3047C>G (p.Thr1016Ser)
|
rs1221645372
|
0.00001
|
|
NM_000642.3(AGL):c.3083+19G>C
|
rs772603921
|
0.00001
|
|
NM_000642.3(AGL):c.3084-5T>G
|
rs886178367
|
0.00001
|
|
NM_000642.3(AGL):c.3102A>G (p.Ser1034=)
|
rs1467382297
|
0.00001
|
|
NM_000642.3(AGL):c.3103A>G (p.Thr1035Ala)
|
rs765807003
|
0.00001
|
|
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
|
rs900064421
|
0.00001
|
|
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
|
rs371973678
|
0.00001
|
|
NM_000642.3(AGL):c.3124T>C (p.Leu1042=)
|
rs764821272
|
0.00001
|
|
NM_000642.3(AGL):c.3141G>T (p.Leu1047=)
|
rs756930451
|
0.00001
|
|
NM_000642.3(AGL):c.3144T>C (p.Cys1048=)
|
rs780770131
|
0.00001
|
|
NM_000642.3(AGL):c.3149T>C (p.Val1050Ala)
|
rs1652977376
|
0.00001
|
|
NM_000642.3(AGL):c.3162T>C (p.Pro1054=)
|
rs1435765268
|
0.00001
|
|
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys)
|
rs749163043
|
0.00001
|
|
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
|
rs201888023
|
0.00001
|
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
|
NM_000642.3(AGL):c.3213T>C (p.Asn1071=)
|
rs765357864
|
0.00001
|
|
NM_000642.3(AGL):c.3237A>G (p.Gln1079=)
|
rs757615870
|
0.00001
|
|
NM_000642.3(AGL):c.3250C>T (p.Leu1084=)
|
rs1319052129
|
0.00001
|
|
NM_000642.3(AGL):c.3259+19G>A
|
rs1254775765
|
0.00001
|
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
|
NM_000642.3(AGL):c.3259+3A>T
|
rs748859491
|
0.00001
|
|
NM_000642.3(AGL):c.3260-15T>A
|
rs772059039
|
0.00001
|
|
NM_000642.3(AGL):c.3260-6T>G
|
rs202158810
|
0.00001
|
|
NM_000642.3(AGL):c.3308C>G (p.Thr1103Ser)
|
rs765984761
|
0.00001
|
|
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
|
rs753449391
|
0.00001
|
|
NM_000642.3(AGL):c.3342T>C (p.Thr1114=)
|
rs369509822
|
0.00001
|
|
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter)
|
rs1432024176
|
0.00001
|
|
NM_000642.3(AGL):c.3382G>A (p.Ala1128Thr)
|
rs1653752606
|
0.00001
|
|
NM_000642.3(AGL):c.3396G>A (p.Arg1132=)
|
rs1215727446
|
0.00001
|
|
NM_000642.3(AGL):c.3399T>C (p.His1133=)
|
rs777488492
|
0.00001
|
|
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg)
|
rs1281040074
|
0.00001
|
|
NM_000642.3(AGL):c.3418C>T (p.Leu1140=)
|
rs1404079839
|
0.00001
|
|
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
|
rs1021861990
|
0.00001
|
|
NM_000642.3(AGL):c.3503T>A (p.Val1168Asp)
|
rs1247591998
|
0.00001
|
|
NM_000642.3(AGL):c.3531C>T (p.Cys1177=)
|
rs1653766997
|
0.00001
|
|
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu)
|
rs374498927
|
0.00001
|
|
NM_000642.3(AGL):c.3554del (p.Thr1185fs)
|
rs764318570
|
0.00001
|
|
NM_000642.3(AGL):c.3588+10T>C
|
rs761455023
|
0.00001
|
|
NM_000642.3(AGL):c.3589-17C>T
|
rs770871112
|
0.00001
|
|
NM_000642.3(AGL):c.360T>C (p.His120=)
|
rs763863707
|
0.00001
|
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
|
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
|
rs372709840
|
0.00001
|
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
|
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln)
|
rs147214287
|
0.00001
|
|
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg)
|
rs750507211
|
0.00001
|
|
NM_000642.3(AGL):c.3705T>C (p.Phe1235=)
|
rs765902680
|
0.00001
|
|
NM_000642.3(AGL):c.3709A>G (p.Ile1237Val)
|
rs1432839313
|
0.00001
|
|
NM_000642.3(AGL):c.3741T>C (p.Phe1247=)
|
rs1279212438
|
0.00001
|
|
NM_000642.3(AGL):c.3742G>A (p.Val1248Ile)
|
rs1240157988
|
0.00001
|
|
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe)
|
rs1198709856
|
0.00001
|
|
NM_000642.3(AGL):c.3757C>A (p.Arg1253Ser)
|
rs375531470
|
0.00001
|
|
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu)
|
rs1324875747
|
0.00001
|
|
NM_000642.3(AGL):c.3765T>C (p.Asn1255=)
|
rs1172247741
|
0.00001
|
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
|
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
|
rs771249925
|
0.00001
|
|
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser)
|
rs892629109
|
0.00001
|
|
NM_000642.3(AGL):c.3830C>T (p.Thr1277Ile)
|
rs751959174
|
0.00001
|
|
NM_000642.3(AGL):c.3836+1G>A
|
rs780883601
|
0.00001
|
|
NM_000642.3(AGL):c.3836+4G>A
|
rs1488570554
|
0.00001
|
|
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu)
|
rs778956378
|
0.00001
|
|
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
|
rs1238498134
|
0.00001
|
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
|
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
|
rs1264514559
|
0.00001
|
|
NM_000642.3(AGL):c.3918C>T (p.Phe1306=)
|
rs574183079
|
0.00001
|
|
NM_000642.3(AGL):c.393A>G (p.Thr131=)
|
rs1244650534
|
0.00001
|
|
NM_000642.3(AGL):c.3972T>C (p.Tyr1324=)
|
rs768746665
|
0.00001
|
|
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
|
rs1168287000
|
0.00001
|
|
NM_000642.3(AGL):c.3976del (p.Glu1326fs)
|
rs1654902207
|
0.00001
|
|
NM_000642.3(AGL):c.3978G>A (p.Glu1326=)
|
rs1372237275
|
0.00001
|
|
NM_000642.3(AGL):c.4026C>T (p.Ser1342=)
|
rs764186886
|
0.00001
|
|
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp)
|
rs1361507097
|
0.00001
|
|
NM_000642.3(AGL):c.4098T>C (p.Tyr1366=)
|
rs1245735298
|
0.00001
|
|
NM_000642.3(AGL):c.40G>A (p.Glu14Lys)
|
rs749411087
|
0.00001
|
|
NM_000642.3(AGL):c.412G>A (p.Gly138Arg)
|
rs747039991
|
0.00001
|
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
|
NM_000642.3(AGL):c.4146C>T (p.Thr1382=)
|
rs767272437
|
0.00001
|
|
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
|
rs752877022
|
0.00001
|
|
NM_000642.3(AGL):c.4184A>G (p.Glu1395Gly)
|
rs371446246
|
0.00001
|
|
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu)
|
rs772026557
|
0.00001
|
|
NM_000642.3(AGL):c.4212A>C (p.Ala1404=)
|
rs766097240
|
0.00001
|
|
NM_000642.3(AGL):c.4236T>C (p.Leu1412=)
|
rs764366057
|
0.00001
|
|
NM_000642.3(AGL):c.4255C>T (p.Pro1419Ser)
|
rs532926173
|
0.00001
|
|
NM_000642.3(AGL):c.4260-3C>T
|
rs1334595745
|
0.00001
|
|
NM_000642.3(AGL):c.4266G>T (p.Met1422Ile)
|
rs755347576
|
0.00001
|
|
NM_000642.3(AGL):c.4273T>C (p.Cys1425Arg)
|
rs777134108
|
0.00001
|
|
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
|
rs775357608
|
0.00001
|
|
NM_000642.3(AGL):c.4306A>C (p.Asn1436His)
|
rs372262923
|
0.00001
|
|
NM_000642.3(AGL):c.4308C>T (p.Asn1436=)
|
rs773138600
|
0.00001
|
|
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
|
rs766592371
|
0.00001
|
|
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
|
rs754359314
|
0.00001
|
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
|
NM_000642.3(AGL):c.4344A>C (p.Gly1448=)
|
rs373302638
|
0.00001
|
|
NM_000642.3(AGL):c.4347+16A>G
|
rs562398608
|
0.00001
|
|
NM_000642.3(AGL):c.4348-7T>G
|
rs1328440937
|
0.00001
|
|
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)
|
rs775685508
|
0.00001
|
|
NM_000642.3(AGL):c.4356G>A (p.Leu1452=)
|
rs764387845
|
0.00001
|
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
|
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe)
|
rs766952829
|
0.00001
|
|
NM_000642.3(AGL):c.4368G>A (p.Gly1456=)
|
rs749989508
|
0.00001
|
|
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
|
rs546855663
|
0.00001
|
|
NM_000642.3(AGL):c.4412C>T (p.Pro1471Leu)
|
rs566536762
|
0.00001
|
|
NM_000642.3(AGL):c.4443T>G (p.Val1481=)
|
rs763400653
|
0.00001
|
|
NM_000642.3(AGL):c.4481+10C>G
|
rs1026785989
|
0.00001
|
|
NM_000642.3(AGL):c.4481+9T>C
|
rs1341502946
|
0.00001
|
|
NM_000642.3(AGL):c.4506A>G (p.Glu1502=)
|
rs546667609
|
0.00001
|
|
NM_000642.3(AGL):c.4527G>A (p.Gln1509=)
|
rs373624039
|
0.00001
|
|
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
|
rs556986901
|
0.00001
|
|
NM_000642.3(AGL):c.4569T>C (p.Ala1523=)
|
rs1655518403
|
0.00001
|
|
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
|
rs769116515
|
0.00001
|
|
NM_000642.3(AGL):c.460+7T>C
|
rs1292593653
|
0.00001
|
|
NM_000642.3(AGL):c.461-4G>A
|
rs769201662
|
0.00001
|
|
NM_000642.3(AGL):c.461-8C>T
|
rs1450860025
|
0.00001
|
|
NM_000642.3(AGL):c.512C>T (p.Ser171Leu)
|
rs760243154
|
0.00001
|
|
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)
|
rs766234642
|
0.00001
|
|
NM_000642.3(AGL):c.526G>A (p.Ala176Thr)
|
rs533806773
|
0.00001
|
|
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)
|
rs780694207
|
0.00001
|
|
NM_000642.3(AGL):c.598C>G (p.Leu200Val)
|
rs1171638572
|
0.00001
|
|
NM_000642.3(AGL):c.618G>A (p.Lys206=)
|
rs748570736
|
0.00001
|
|
NM_000642.3(AGL):c.636T>C (p.Cys212=)
|
rs1466649732
|
0.00001
|
|
NM_000642.3(AGL):c.656A>G (p.Asn219Ser)
|
rs893488693
|
0.00001
|
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
|
NM_000642.3(AGL):c.665C>T (p.Ala222Val)
|
rs762643041
|
0.00001
|
|
NM_000642.3(AGL):c.681G>C (p.Trp227Cys)
|
rs753914653
|
0.00001
|
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
|
NM_000642.3(AGL):c.685C>T (p.Gln229Ter)
|
rs971749992
|
0.00001
|
|
NM_000642.3(AGL):c.689A>C (p.Glu230Ala)
|
rs1275008400
|
0.00001
|
|
NM_000642.3(AGL):c.69C>T (p.Phe23=)
|
rs1571206197
|
0.00001
|
|
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
|
rs1336588763
|
0.00001
|
|
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
|
rs891527554
|
0.00001
|
|
NM_000642.3(AGL):c.798C>T (p.Tyr266=)
|
rs1011395459
|
0.00001
|
|
NM_000642.3(AGL):c.801A>G (p.Lys267=)
|
rs370970364
|
0.00001
|
|
NM_000642.3(AGL):c.809G>A (p.Gly270Glu)
|
rs1466350775
|
0.00001
|
|
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
|
rs754177225
|
0.00001
|
|
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
|
rs943273443
|
0.00001
|
|
NM_000642.3(AGL):c.83-17_83-16del
|
rs751326594
|
0.00001
|
|
NM_000642.3(AGL):c.84G>A (p.Gly28=)
|
rs758514310
|
0.00001
|
|
NM_000642.3(AGL):c.853C>T (p.Arg285Ter)
|
rs755747010
|
0.00001
|
|
NM_000642.3(AGL):c.864T>G (p.Ile288Met)
|
rs771965730
|
0.00001
|
|
NM_000642.3(AGL):c.872A>G (p.Asp291Gly)
|
rs555262805
|
0.00001
|
|
NM_000642.3(AGL):c.885G>C (p.Lys295Asn)
|
rs778977370
|
0.00001
|
|
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
|
rs932386485
|
0.00001
|
|
NM_000642.3(AGL):c.8A>G (p.His3Arg)
|
rs752437446
|
0.00001
|
|
NM_000642.3(AGL):c.906C>T (p.Phe302=)
|
rs1650930270
|
0.00001
|
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
|
NM_000642.3(AGL):c.90G>A (p.Glu30=)
|
rs1485709719
|
0.00001
|
|
NM_000642.3(AGL):c.931G>A (p.Glu311Lys)
|
rs1553184646
|
0.00001
|
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
|
NM_000642.3(AGL):c.951T>G (p.Leu317=)
|
rs1185827766
|
0.00001
|
|
NM_000642.3(AGL):c.958+10A>G
|
rs1650937201
|
0.00001
|
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
|
NM_000642.3(AGL):c.959-4T>C
|
rs1399258321
|
0.00001
|
|
NM_000642.3(AGL):c.996C>A (p.His332Gln)
|
rs780811320
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*1030C>T
|
rs1310873825
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*1361C>A
|
rs1191660760
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*1412G>A
|
rs886053331
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*3025G>A
|
rs536788614
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*3352T>A
|
rs886053345
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*39C>T
|
rs1196218333
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*572G>T
|
rs566129544
|
0.00001
|
|
NM_000891.3(KCNJ2):c.*687A>C
|
rs886053329
|
0.00001
|
|
NM_000891.3(KCNJ2):c.-361G>C
|
rs984704301
|
0.00001
|
|
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)
|
rs1476737505
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1035C>T (p.His345=)
|
rs201747514
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=)
|
rs767166881
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=)
|
rs753839703
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser)
|
rs1279418065
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr)
|
rs752406680
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg)
|
rs760459401
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=)
|
rs763917912
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)
|
rs745372216
|
0.00001
|
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
|
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln)
|
rs764311511
|
0.00001
|
|
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser)
|
rs1484750176
|
0.00001
|
|
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=)
|
rs1434901464
|
0.00001
|
|
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)
|
rs1053161336
|
0.00001
|
|
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)
|
rs529080615
|
0.00001
|
|
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)
|
rs550697411
|
0.00001
|
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
|
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)
|
rs556248547
|
0.00001
|
|
NM_000891.3(KCNJ2):c.279C>T (p.Val93=)
|
rs767566718
|
0.00001
|
|
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)
|
rs750630010
|
0.00001
|
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
|
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)
|
rs371331394
|
0.00001
|
|
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)
|
rs1402832714
|
0.00001
|
|
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)
|
rs151168735
|
0.00001
|
|
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=)
|
rs745672560
|
0.00001
|
|
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)
|
rs199473378
|
0.00001
|
|
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=)
|
rs773185250
|
0.00001
|
|
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=)
|
rs751862699
|
0.00001
|
|
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=)
|
rs759879267
|
0.00001
|
|
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val)
|
rs767934529
|
0.00001
|
|
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser)
|
rs1236228202
|
0.00001
|
|
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=)
|
rs142049682
|
0.00001
|
|
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met)
|
rs140147979
|
0.00001
|
|
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr)
|
rs771965504
|
0.00001
|
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
|
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup)
|
rs2074383942
|
0.00001
|
|
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr)
|
rs759793133
|
0.00001
|
|
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)
|
rs764523123
|
0.00001
|
|
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=)
|
rs201850260
|
0.00001
|
|
NM_000891.3(KCNJ2):c.678T>C (p.His226=)
|
rs559935671
|
0.00001
|
|
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)
|
rs1276042254
|
0.00001
|
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
|
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=)
|
rs886039094
|
0.00001
|
|
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)
|
rs1261477163
|
0.00001
|
|
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)
|
rs1217136489
|
0.00001
|
|
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)
|
rs774461588
|
0.00001
|
|
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)
|
rs2074384649
|
0.00001
|
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
|
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu)
|
rs758054840
|
0.00001
|
|
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)
|
rs895505794
|
0.00001
|
|
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)
|
rs1027878057
|
0.00001
|
|
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met)
|
rs2074389817
|
0.00001
|
|
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=)
|
rs1441547463
|
0.00001
|
|
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=)
|
rs2074390355
|
0.00001
|
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
|
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)
|
rs1555604000
|
0.00001
|
|
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=)
|
rs905657549
|
0.00001
|
|
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)
|
rs769513425
|
0.00001
|
|
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)
|
rs1598210962
|
0.00001
|
|
NM_000925.4(PDHB):c.*199T>G
|
rs886058777
|
0.00001
|
|
NM_000925.4(PDHB):c.*365T>A
|
rs1023863848
|
0.00001
|
|
NM_000925.4(PDHB):c.*77C>T
|
rs766780930
|
0.00001
|
|
NM_000925.4(PDHB):c.*7C>G
|
rs374476885
|
0.00001
|
|
NM_000925.4(PDHB):c.-12G>A
|
rs758352130
|
0.00001
|
|
NM_000925.4(PDHB):c.1005A>G (p.Ala335=)
|
rs749945707
|
0.00001
|
|
NM_000925.4(PDHB):c.1047C>A (p.Ile349=)
|
rs772087134
|
0.00001
|
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
|
NM_000925.4(PDHB):c.1080G>A (p.Ter360=)
|
rs1323403685
|
0.00001
|
|
NM_000925.4(PDHB):c.11T>C (p.Val4Ala)
|
rs751921912
|
0.00001
|
|
NM_000925.4(PDHB):c.15T>C (p.Ser5=)
|
rs775907917
|
0.00001
|
|
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
|
rs772939767
|
0.00001
|
|
NM_000925.4(PDHB):c.216G>A (p.Gly72=)
|
rs150167131
|
0.00001
|
|
NM_000925.4(PDHB):c.231T>C (p.Tyr77=)
|
rs1320317596
|
0.00001
|
|
NM_000925.4(PDHB):c.239A>G (p.Lys80Arg)
|
rs1455283629
|
0.00001
|
|
NM_000925.4(PDHB):c.384C>G (p.Ala128=)
|
rs1292480962
|
0.00001
|
|
NM_000925.4(PDHB):c.417T>C (p.Pro139=)
|
rs762644804
|
0.00001
|
|
NM_000925.4(PDHB):c.43-18T>C
|
rs548113809
|
0.00001
|
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
|
NM_000925.4(PDHB):c.492C>T (p.Ala164=)
|
rs200016955
|
0.00001
|
|
NM_000925.4(PDHB):c.498T>C (p.Tyr166=)
|
rs757249455
|
0.00001
|
|
NM_000925.4(PDHB):c.507C>T (p.Cys169=)
|
rs143765288
|
0.00001
|
|
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys)
|
rs994015584
|
0.00001
|
|
NM_000925.4(PDHB):c.747C>T (p.Cys249=)
|
rs766540951
|
0.00001
|
|
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
|
rs761614417
|
0.00001
|
|
NM_000925.4(PDHB):c.78C>T (p.Thr26=)
|
rs552159384
|
0.00001
|
|
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
|
rs372743787
|
0.00001
|
|
NM_000925.4(PDHB):c.84G>T (p.Pro28=)
|
rs1458982933
|
0.00001
|
|
NM_000925.4(PDHB):c.897T>C (p.Phe299=)
|
rs145795547
|
0.00001
|
|
NM_000925.4(PDHB):c.915C>A (p.Ile305=)
|
rs140921216
|
0.00001
|
|
NM_000925.4(PDHB):c.922A>G (p.Arg308Gly)
|
rs1237258897
|
0.00001
|
|
NM_000925.4(PDHB):c.942G>A (p.Ala314=)
|
rs148770511
|
0.00001
|
|
NM_000925.4(PDHB):c.96+11C>T
|
rs754446937
|
0.00001
|
|
NM_001008216.2(GALE):c.-77+168T>G
|
rs924261949
|
0.00001
|
|
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser)
|
rs121908046
|
0.00001
|
|
NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala)
|
rs918539847
|
0.00001
|
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
|
NM_001008216.2(GALE):c.194T>C (p.Met65Thr)
|
rs781426540
|
0.00001
|
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
|
NM_001008216.2(GALE):c.382G>A (p.Val128Met)
|
rs778887800
|
0.00001
|
|
NM_001008216.2(GALE):c.398C>T (p.Ala133Val)
|
rs727503944
|
0.00001
|
|
NM_001008216.2(GALE):c.408C>T (p.Tyr136=)
|
rs727503943
|
0.00001
|
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
|
NM_001008216.2(GALE):c.538G>A (p.Ala180Thr)
|
rs756590751
|
0.00001
|
|
NM_001008216.2(GALE):c.643-7C>T
|
rs771926683
|
0.00001
|
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
|
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro)
|
rs756780233
|
0.00001
|
|
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro)
|
rs1457875051
|
0.00001
|
|
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp)
|
rs756944736
|
0.00001
|
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
|
NM_001008216.2(GALE):c.723C>T (p.Tyr241=)
|
rs777457188
|
0.00001
|
|
NM_001008216.2(GALE):c.753C>T (p.His251=)
|
rs766024842
|
0.00001
|
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
|
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)
|
rs1342042645
|
0.00001
|
|
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)
|
rs752384408
|
0.00001
|
|
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)
|
rs770436207
|
0.00001
|
|
NM_001039770.3(TMPPE):c.-391C>T
|
rs766309446
|
0.00001
|
|
NM_001039770.3(TMPPE):c.-523G>C
|
rs529551028
|
0.00001
|
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
|
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)
|
rs1163046936
|
0.00001
|
|
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser)
|
rs576126444
|
0.00001
|
|
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)
|
rs1567718073
|
0.00001
|
|
NM_001040716.2(PC):c.*161C>T
|
rs886048554
|
0.00001
|
|
NM_001040716.2(PC):c.1-4C>A
|
rs1313846853
|
0.00001
|
|
NM_001040716.2(PC):c.1002G>A (p.Thr334=)
|
rs778602769
|
0.00001
|
|
NM_001040716.2(PC):c.1022+12C>T
|
rs754143204
|
0.00001
|
|
NM_001040716.2(PC):c.1088G>A (p.Arg363Gln)
|
rs752041697
|
0.00001
|
|
NM_001040716.2(PC):c.108C>T (p.Pro36=)
|
rs1226912880
|
0.00001
|
|
NM_001040716.2(PC):c.1092G>A (p.Gln364=)
|
rs1192644624
|
0.00001
|
|
NM_001040716.2(PC):c.1098C>T (p.Asn366=)
|
rs775182284
|
0.00001
|
|
NM_001040716.2(PC):c.1110C>T (p.Asn370=)
|
rs776429910
|
0.00001
|
|
NM_001040716.2(PC):c.1152G>A (p.Ala384=)
|
rs373053724
|
0.00001
|
|
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys)
|
rs773109008
|
0.00001
|
|
NM_001040716.2(PC):c.1155C>A (p.Arg385=)
|
rs1179773551
|
0.00001
|
|
NM_001040716.2(PC):c.1173C>T (p.Thr391=)
|
rs202135326
|
0.00001
|
|
NM_001040716.2(PC):c.1185+7G>A
|
rs764854894
|
0.00001
|
|
NM_001040716.2(PC):c.1186-19C>T
|
rs200472867
|
0.00001
|
|
NM_001040716.2(PC):c.1197C>T (p.Ser399=)
|
rs776840589
|
0.00001
|
|
NM_001040716.2(PC):c.1221G>A (p.Leu407=)
|
rs771046930
|
0.00001
|
|
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
|
rs773645433
|
0.00001
|
|
NM_001040716.2(PC):c.1248C>T (p.Ala416=)
|
rs372061505
|
0.00001
|
|
NM_001040716.2(PC):c.1257G>A (p.Ser419=)
|
rs1417266857
|
0.00001
|
|
NM_001040716.2(PC):c.1269C>T (p.Asp423=)
|
rs1387760011
|
0.00001
|
|
NM_001040716.2(PC):c.1272C>T (p.Ser424=)
|
rs767255097
|
0.00001
|
|
NM_001040716.2(PC):c.1273C>T (p.Leu425=)
|
rs1397701009
|
0.00001
|
|
NM_001040716.2(PC):c.127G>A (p.Ala43Thr)
|
rs756621649
|
0.00001
|
|
NM_001040716.2(PC):c.1299C>G (p.Gly433=)
|
rs763937652
|
0.00001
|
|
NM_001040716.2(PC):c.1311C>G (p.Pro437=)
|
rs766485640
|
0.00001
|
|
NM_001040716.2(PC):c.136+8C>T
|
rs944736105
|
0.00001
|
|
NM_001040716.2(PC):c.136+9C>T
|
rs749948216
|
0.00001
|
|
NM_001040716.2(PC):c.1368+1G>T
|
rs755640269
|
0.00001
|
|
NM_001040716.2(PC):c.1431C>T (p.Asp477=)
|
rs746568602
|
0.00001
|
|
NM_001040716.2(PC):c.1443C>T (p.Ile481=)
|
rs375389054
|
0.00001
|
|
NM_001040716.2(PC):c.1461G>A (p.Leu487=)
|
rs1209304828
|
0.00001
|
|
NM_001040716.2(PC):c.1485C>T (p.Asn495=)
|
rs766290468
|
0.00001
|
|
NM_001040716.2(PC):c.14G>A (p.Arg5Gln)
|
rs753072659
|
0.00001
|
|
NM_001040716.2(PC):c.1503G>A (p.Leu501=)
|
rs200108233
|
0.00001
|
|
NM_001040716.2(PC):c.1514-9T>C
|
rs769129894
|
0.00001
|
|
NM_001040716.2(PC):c.1518T>C (p.His506=)
|
rs781319350
|
0.00001
|
|
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
|
rs765499560
|
0.00001
|
|
NM_001040716.2(PC):c.1545G>A (p.Pro515=)
|
rs761154786
|
0.00001
|
|
NM_001040716.2(PC):c.159C>T (p.Phe53=)
|
rs749641310
|
0.00001
|
|
NM_001040716.2(PC):c.1603+12C>G
|
rs755182246
|
0.00001
|
|
NM_001040716.2(PC):c.1604-16C>A
|
rs769556316
|
0.00001
|
|
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)
|
rs151174961
|
0.00001
|
|
NM_001040716.2(PC):c.1620T>C (p.Gly540=)
|
rs781570011
|
0.00001
|
|
NM_001040716.2(PC):c.1647G>A (p.Gly549=)
|
rs763282432
|
0.00001
|
|
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)
|
rs766242199
|
0.00001
|
|
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln)
|
rs773005705
|
0.00001
|
|
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)
|
rs746060650
|
0.00001
|
|
NM_001040716.2(PC):c.1713G>A (p.Arg571=)
|
rs924296015
|
0.00001
|
|
NM_001040716.2(PC):c.1719C>T (p.Ala573=)
|
rs1168306694
|
0.00001
|
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
|
NM_001040716.2(PC):c.1826-5T>C
|
rs750069032
|
0.00001
|
|
NM_001040716.2(PC):c.1826-6G>A
|
rs377766432
|
0.00001
|
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
|
NM_001040716.2(PC):c.1839C>T (p.Asp613=)
|
rs369234869
|
0.00001
|
|
NM_001040716.2(PC):c.1971C>T (p.Asn657=)
|
rs776137762
|
0.00001
|
|
NM_001040716.2(PC):c.1974G>C (p.Val658=)
|
rs745327162
|
0.00001
|
|
NM_001040716.2(PC):c.1982+10G>A
|
rs373251486
|
0.00001
|
|
NM_001040716.2(PC):c.1983-9C>T
|
rs747875763
|
0.00001
|
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
|
NM_001040716.2(PC):c.2088C>T (p.Ala696=)
|
rs975494289
|
0.00001
|
|
NM_001040716.2(PC):c.2190G>C (p.Leu730=)
|
rs926210262
|
0.00001
|
|
NM_001040716.2(PC):c.2194C>T (p.Arg732Ter)
|
rs112948607
|
0.00001
|
|
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln)
|
rs773872994
|
0.00001
|
|
NM_001040716.2(PC):c.2214G>A (p.Leu738=)
|
rs202134233
|
0.00001
|
|
NM_001040716.2(PC):c.2224-18C>A
|
rs768718604
|
0.00001
|
|
NM_001040716.2(PC):c.2226C>T (p.Asp742=)
|
rs1445463369
|
0.00001
|
|
NM_001040716.2(PC):c.2265G>T (p.Leu755=)
|
rs1226564535
|
0.00001
|
|
NM_001040716.2(PC):c.2268C>T (p.Val756=)
|
rs183729868
|
0.00001
|
|
NM_001040716.2(PC):c.2274C>T (p.Ser758=)
|
rs930022211
|
0.00001
|
|
NM_001040716.2(PC):c.2280G>A (p.Arg760=)
|
rs1322102414
|
0.00001
|
|
NM_001040716.2(PC):c.2292C>T (p.Pro764=)
|
rs757918962
|
0.00001
|
|
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro)
|
rs1945435067
|
0.00001
|
|
NM_001040716.2(PC):c.2409G>A (p.Gly803=)
|
rs778275619
|
0.00001
|
|
NM_001040716.2(PC):c.2473+8G>A
|
rs371135064
|
0.00001
|
|
NM_001040716.2(PC):c.2493G>A (p.Val831=)
|
rs1366257079
|
0.00001
|
|
NM_001040716.2(PC):c.2505T>C (p.Ser835=)
|
rs750588691
|
0.00001
|
|
NM_001040716.2(PC):c.2535C>T (p.Tyr845=)
|
rs534635326
|
0.00001
|
|
NM_001040716.2(PC):c.2574C>T (p.Asn858=)
|
rs753913817
|
0.00001
|
|
NM_001040716.2(PC):c.2589A>G (p.Glu863=)
|
rs767914748
|
0.00001
|
|
NM_001040716.2(PC):c.2637C>T (p.His879=)
|
rs1255657554
|
0.00001
|
|
NM_001040716.2(PC):c.2652C>T (p.Gly884=)
|
rs777576274
|
0.00001
|
|
NM_001040716.2(PC):c.2706C>T (p.Gly902=)
|
rs73489729
|
0.00001
|
|
NM_001040716.2(PC):c.2719-11C>A
|
rs767201118
|
0.00001
|
|
NM_001040716.2(PC):c.2724G>A (p.Thr908=)
|
rs573985170
|
0.00001
|
|
NM_001040716.2(PC):c.2727C>T (p.Pro909=)
|
rs1288499682
|
0.00001
|
|
NM_001040716.2(PC):c.2730C>T (p.Ser910=)
|
rs554090254
|
0.00001
|
|
NM_001040716.2(PC):c.2739C>T (p.Ile913=)
|
rs145489836
|
0.00001
|
|
NM_001040716.2(PC):c.2740G>A (p.Val914Met)
|
rs775626599
|
0.00001
|
|
NM_001040716.2(PC):c.2754C>T (p.Ala918=)
|
rs534275006
|
0.00001
|
|
NM_001040716.2(PC):c.2776T>C (p.Leu926=)
|
rs912867186
|
0.00001
|
|
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
|
rs565678903
|
0.00001
|
|
NM_001040716.2(PC):c.2793C>T (p.Ala931=)
|
rs749960473
|
0.00001
|
|
NM_001040716.2(PC):c.2805G>A (p.Ala935=)
|
rs1278630981
|
0.00001
|
|
NM_001040716.2(PC):c.2829C>T (p.Ser943=)
|
rs769867981
|
0.00001
|
|
NM_001040716.2(PC):c.2838G>A (p.Glu946=)
|
rs1945378120
|
0.00001
|
|
NM_001040716.2(PC):c.2844G>A (p.Leu948=)
|
rs753274377
|
0.00001
|
|
NM_001040716.2(PC):c.2880C>T (p.Pro960=)
|
rs549991937
|
0.00001
|
|
NM_001040716.2(PC):c.289C>T (p.Leu97=)
|
rs368549197
|
0.00001
|
|
NM_001040716.2(PC):c.2922G>A (p.Val974=)
|
rs752435667
|
0.00001
|
|
NM_001040716.2(PC):c.2976G>A (p.Lys992=)
|
rs368895283
|
0.00001
|
|
NM_001040716.2(PC):c.2997G>A (p.Gly999=)
|
rs1945359016
|
0.00001
|
|
NM_001040716.2(PC):c.3024C>T (p.Leu1008=)
|
rs1418975965
|
0.00001
|
|
NM_001040716.2(PC):c.3043G>A (p.Asp1015Asn)
|
rs746490033
|
0.00001
|
|
NM_001040716.2(PC):c.3078C>T (p.Thr1026=)
|
rs750411329
|
0.00001
|
|
NM_001040716.2(PC):c.3084C>A (p.Gly1028=)
|
rs375994634
|
0.00001
|
|
NM_001040716.2(PC):c.3132C>T (p.Ile1044=)
|
rs771370242
|
0.00001
|
|
NM_001040716.2(PC):c.3147+17C>T
|
rs767447355
|
0.00001
|
|
NM_001040716.2(PC):c.3148-10C>T
|
rs772718644
|
0.00001
|
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
|
NM_001040716.2(PC):c.3177C>T (p.His1059=)
|
rs769512871
|
0.00001
|
|
NM_001040716.2(PC):c.3234T>C (p.Phe1078=)
|
rs531640812
|
0.00001
|
|
NM_001040716.2(PC):c.3262T>C (p.Leu1088=)
|
rs910028001
|
0.00001
|
|
NM_001040716.2(PC):c.3279G>A (p.Gln1093=)
|
rs754942279
|
0.00001
|
|
NM_001040716.2(PC):c.3288+20C>T
|
rs750712278
|
0.00001
|
|
NM_001040716.2(PC):c.3288+9T>A
|
rs1233044534
|
0.00001
|
|
NM_001040716.2(PC):c.331G>A (p.Val111Ile)
|
rs753573264
|
0.00001
|
|
NM_001040716.2(PC):c.3357G>A (p.Lys1119=)
|
rs960938078
|
0.00001
|
|
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
|
rs745961257
|
0.00001
|
|
NM_001040716.2(PC):c.3504G>A (p.Leu1168=)
|
rs1309122730
|
0.00001
|
|
NM_001040716.2(PC):c.354C>T (p.Tyr118=)
|
rs756061375
|
0.00001
|
|
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
|
rs199678394
|
0.00001
|
|
NM_001040716.2(PC):c.375G>A (p.Ala125=)
|
rs775684836
|
0.00001
|
|
NM_001040716.2(PC):c.381C>T (p.Phe127=)
|
rs367957543
|
0.00001
|
|
NM_001040716.2(PC):c.435G>A (p.Val145=)
|
rs778555357
|
0.00001
|
|
NM_001040716.2(PC):c.462G>A (p.Glu154=)
|
rs1240619530
|
0.00001
|
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
|
NM_001040716.2(PC):c.487+7A>G
|
rs766680971
|
0.00001
|
|
NM_001040716.2(PC):c.576C>A (p.Ile192=)
|
rs758308970
|
0.00001
|
|
NM_001040716.2(PC):c.630C>T (p.Tyr210=)
|
rs751914905
|
0.00001
|
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
|
NM_001040716.2(PC):c.634-5C>T
|
rs373145902
|
0.00001
|
|
NM_001040716.2(PC):c.63C>T (p.Thr21=)
|
rs1283060530
|
0.00001
|
|
NM_001040716.2(PC):c.642G>A (p.Glu214=)
|
rs1213652361
|
0.00001
|
|
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
|
rs767170503
|
0.00001
|
|
NM_001040716.2(PC):c.678C>T (p.Ala226=)
|
rs760305529
|
0.00001
|
|
NM_001040716.2(PC):c.679G>A (p.Ala227Thr)
|
rs773004288
|
0.00001
|
|
NM_001040716.2(PC):c.696G>A (p.Ala232=)
|
rs768625636
|
0.00001
|
|
NM_001040716.2(PC):c.717C>T (p.Ile239=)
|
rs568909850
|
0.00001
|
|
NM_001040716.2(PC):c.720G>A (p.Glu240=)
|
rs549056241
|
0.00001
|
|
NM_001040716.2(PC):c.735C>T (p.Ile245=)
|
rs1212408282
|
0.00001
|
|
NM_001040716.2(PC):c.741G>A (p.Val247=)
|
rs753387559
|
0.00001
|
|
NM_001040716.2(PC):c.753G>C (p.Gly251=)
|
rs1351471340
|
0.00001
|
|
NM_001040716.2(PC):c.784G>A (p.Glu262Lys)
|
rs1324553572
|
0.00001
|
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
|
NM_001040716.2(PC):c.819G>A (p.Lys273=)
|
rs780734661
|
0.00001
|
|
NM_001040716.2(PC):c.825C>T (p.Val275=)
|
rs546067067
|
0.00001
|
|
NM_001040716.2(PC):c.894C>T (p.Leu298=)
|
rs369445102
|
0.00001
|
|
NM_001040716.2(PC):c.904-10G>A
|
rs377642026
|
0.00001
|
|
NM_001040716.2(PC):c.912C>T (p.Tyr304=)
|
rs541901384
|
0.00001
|
|
NM_001040716.2(PC):c.921A>C (p.Ala307=)
|
rs754821702
|
0.00001
|
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
|
NM_001040716.2(PC):c.987G>A (p.Leu329=)
|
rs771424347
|
0.00001
|
|
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)
|
rs539049352
|
0.00001
|
|
NM_001041.4(SI):c.1147-6T>A
|
rs146539849
|
0.00001
|
|
NM_001041.4(SI):c.118+11C>T
|
rs767898820
|
0.00001
|
|
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)
|
rs777261367
|
0.00001
|
|
NM_001041.4(SI):c.1278+11A>G
|
rs756042084
|
0.00001
|
|
NM_001041.4(SI):c.1526T>C (p.Val509Ala)
|
rs551453053
|
0.00001
|
|
NM_001041.4(SI):c.1796C>T (p.Ala599Val)
|
rs747388124
|
0.00001
|
|
NM_001041.4(SI):c.186A>G (p.Lys62=)
|
rs368169891
|
0.00001
|
|
NM_001041.4(SI):c.2338A>G (p.Met780Val)
|
rs770724135
|
0.00001
|
|
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)
|
rs542969966
|
0.00001
|
|
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
|
rs755263405
|
0.00001
|
|
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
|
rs756233137
|
0.00001
|
|
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
|
rs1712193715
|
0.00001
|
|
NM_001041.4(SI):c.2862G>A (p.Lys954=)
|
rs377552984
|
0.00001
|
|
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
|
rs766550125
|
0.00001
|
|
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
|
rs138564183
|
0.00001
|
|
NM_001041.4(SI):c.3229C>T (p.Arg1077Ter)
|
rs1000661675
|
0.00001
|
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
|
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
|
rs765589827
|
0.00001
|
|
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)
|
rs140725570
|
0.00001
|
|
NM_001041.4(SI):c.3423+11A>G
|
rs770815174
|
0.00001
|
|
NM_001041.4(SI):c.3423+3A>G
|
rs766943944
|
0.00001
|
|
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)
|
rs966189337
|
0.00001
|
|
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)
|
rs753519683
|
0.00001
|
|
NM_001041.4(SI):c.3663T>C (p.Tyr1221=)
|
rs767992819
|
0.00001
|
|
NM_001041.4(SI):c.4008A>G (p.Pro1336=)
|
rs747858019
|
0.00001
|
|
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
|
rs761717351
|
0.00001
|
|
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)
|
rs796683088
|
0.00001
|
|
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
|
rs772347173
|
0.00001
|
|
NM_001041.4(SI):c.580G>T (p.Val194Phe)
|
rs371768147
|
0.00001
|
|
NM_001041.4(SI):c.59T>A (p.Val20Asp)
|
rs771580575
|
0.00001
|
|
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
|
rs377040463
|
0.00001
|
|
NM_001041.4(SI):c.952G>A (p.Gly318Ser)
|
rs749095854
|
0.00001
|
|
NM_001041.4(SI):c.963G>A (p.Leu321=)
|
rs562469691
|
0.00001
|
|
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)
|
rs762983878
|
0.00001
|
|
NM_001080510.5(METTL23):c.407+6T>C
|
rs1373087430
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1129C>T (p.Arg377Ter)
|
rs267607136
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg)
|
rs149274458
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys)
|
rs1006238101
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met)
|
rs1029565906
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)
|
rs199948844
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile)
|
rs1339133695
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.2854G>T (p.Glu952Ter)
|
rs766614772
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)
|
rs1459705932
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys)
|
rs767963216
|
0.00001
|
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.*138C>T
|
rs867580827
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.*1A>G
|
rs782422570
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.*283T>C
|
rs886047746
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.*338T>C
|
rs1014083666
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-279C>T
|
rs886047752
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-499C>T
|
rs1236559416
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-50T>G
|
rs886047750
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-522G>A
|
rs1375919926
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-527C>T
|
rs1290401578
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)
|
rs1474838395
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=)
|
rs1277712643
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)
|
rs946752823
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)
|
rs958173659
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)
|
rs1483400314
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)
|
rs370696612
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)
|
rs193302901
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+1G>T
|
rs782630676
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+49C>T
|
rs782799385
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+8T>C
|
rs377506675
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-29G>A
|
rs1262126192
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-44G>A
|
rs1256742179
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-53G>A
|
rs1555190416
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)
|
rs782665493
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)
|
rs1157093654
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)
|
rs1555190374
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)
|
rs782074488
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)
|
rs1277675258
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-23C>T
|
rs1283313486
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-6C>G
|
rs1407509189
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)
|
rs1555191621
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)
|
rs1452761654
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)
|
rs193302885
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)
|
rs782578166
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=)
|
rs1478378942
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=)
|
rs546808955
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)
|
rs782446107
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)
|
rs561054469
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)
|
rs1273132953
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)
|
rs781808875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)
|
rs1210339491
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)
|
rs782313064
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=)
|
rs191768893
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)
|
rs782358834
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.382-16G>A
|
rs778665353
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=)
|
rs767772187
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)
|
rs193302879
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=)
|
rs1943620012
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)
|
rs776272750
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)
|
rs1438731101
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=)
|
rs745606440
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=)
|
rs751791093
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)
|
rs1326476812
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=)
|
rs1943617167
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)
|
rs777627677
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=)
|
rs1476372585
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)
|
rs764654621
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.626+12C>T
|
rs549251533
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.626+9C>T
|
rs1316816882
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)
|
rs781982938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)
|
rs1197991440
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=)
|
rs1256797588
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=)
|
rs1943586351
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)
|
rs1468641405
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=)
|
rs529075134
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.785+13T>C
|
rs1351380633
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.785+16G>A
|
rs1283553362
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-10C>T
|
rs782502549
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)
|
rs1555191906
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=)
|
rs996156142
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=)
|
rs372837897
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=)
|
rs369860234
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.871+7G>A
|
rs782177602
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-16G>A
|
rs766656496
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)
|
rs763008231
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)
|
rs1555190738
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)
|
rs957014690
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)
|
rs955402383
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)
|
rs1365079218
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=)
|
rs1388219398
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=)
|
rs782234184
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+195C>T
|
rs1189232257
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+217C>T
|
rs1213577149
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+226C>T
|
rs959584744
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+245C>T
|
rs1348642148
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+246G>A
|
rs1314659619
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+259G>C
|
rs1384684015
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+270C>T
|
rs782800127
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+271A>C
|
rs1313690608
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+276G>A
|
rs1555190629
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+283A>G
|
rs1009983005
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+295G>A
|
rs1208499204
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-12T>C
|
rs1180556897
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)
|
rs782282206
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)
|
rs746068220
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
|
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
|
rs3169548
|
0.00001
|
|
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)
|
rs929389001
|
0.00001
|
|
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)
|
rs758280973
|
0.00001
|
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
|
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)
|
rs776187312
|
0.00001
|
|
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)
|
rs775705038
|
0.00001
|
|
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
|
rs778814633
|
0.00001
|
|
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)
|
rs1283845684
|
0.00001
|
|
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
|
rs1463243958
|
0.00001
|
|
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)
|
rs573479181
|
0.00001
|
|
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)
|
rs760807537
|
0.00001
|
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
|
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln)
|
rs749608883
|
0.00001
|
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
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.1192A>G (p.Thr398Ala)
|
rs1259711297
|
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.1621-2A>G
|
rs750728042
|
0.00001
|
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
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.2225A>G (p.Tyr742Cys)
|
rs1464046978
|
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.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
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.2519G>C (p.Gly840Ala)
|
rs764148793
|
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.2568G>A (p.Pro856=)
|
rs745670538
|
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.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
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.500A>G (p.His167Arg)
|
rs577182758
|
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.712_713del (p.Arg238fs)
|
rs1284747916
|
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_001354741.2(PFKM):c.-81+1955A>G
|
rs755094329
|
0.00001
|
|
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)
|
rs779250530
|
0.00001
|
|
NM_001358263.1(HK1):c.75+20308C>T
|
rs756166032
|
0.00001
|
|
NM_001360016.2(G6PD):c.*535G>T
|
rs1057515820
|
0.00001
|
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
|
NM_001360016.2(G6PD):c.1052-10C>T
|
rs1557229778
|
0.00001
|
|
NM_001360016.2(G6PD):c.1052-9G>A
|
rs1334473526
|
0.00001
|
|
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=)
|
rs80280508
|
0.00001
|
|
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=)
|
rs782078151
|
0.00001
|
|
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=)
|
rs375809290
|
0.00001
|
|
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=)
|
rs1557229739
|
0.00001
|
|
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=)
|
rs371808526
|
0.00001
|
|
NM_001360016.2(G6PD):c.1287+14A>G
|
rs1557229641
|
0.00001
|
|
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=)
|
rs782761811
|
0.00001
|
|
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=)
|
rs1557229604
|
0.00001
|
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
|
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=)
|
rs1557229428
|
0.00001
|
|
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=)
|
rs781923155
|
0.00001
|
|
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=)
|
rs1447713922
|
0.00001
|
|
NM_001360016.2(G6PD):c.153C>T (p.Thr51=)
|
rs2070406324
|
0.00001
|
|
NM_001360016.2(G6PD):c.177C>T (p.Gly59=)
|
rs1557230778
|
0.00001
|
|
NM_001360016.2(G6PD):c.228A>T (p.Thr76=)
|
rs782143230
|
0.00001
|
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
|
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)
|
rs141830127
|
0.00001
|
|
NM_001360016.2(G6PD):c.267+7G>A
|
rs2070402994
|
0.00001
|
|
NM_001360016.2(G6PD):c.309C>T (p.Ala103=)
|
rs781967989
|
0.00001
|
|
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)
|
rs1557230626
|
0.00001
|
|
NM_001360016.2(G6PD):c.333G>A (p.Gln111=)
|
rs782572765
|
0.00001
|
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
|
NM_001360016.2(G6PD):c.396A>C (p.Ser132=)
|
rs1557230597
|
0.00001
|
|
NM_001360016.2(G6PD):c.432G>A (p.Pro144=)
|
rs782618375
|
0.00001
|
|
NM_001360016.2(G6PD):c.447C>T (p.Ala149=)
|
rs1557230574
|
0.00001
|
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
|
NM_001360016.2(G6PD):c.516C>T (p.Pro172=)
|
rs781805733
|
0.00001
|
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
|
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)
|
rs1557230370
|
0.00001
|
|
NM_001360016.2(G6PD):c.645-12C>T
|
rs1020037412
|
0.00001
|
|
NM_001360016.2(G6PD):c.645-8C>T
|
rs782599047
|
0.00001
|
|
NM_001360016.2(G6PD):c.648T>C (p.Phe216=)
|
rs137852319
|
0.00001
|
|
NM_001360016.2(G6PD):c.654C>T (p.Asn218=)
|
rs1557230228
|
0.00001
|
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
|
NM_001360016.2(G6PD):c.663C>T (p.Phe221=)
|
rs782530472
|
0.00001
|
|
NM_001360016.2(G6PD):c.771-9C>T
|
rs1237524196
|
0.00001
|
|
NM_001360016.2(G6PD):c.774C>T (p.Asp258=)
|
rs1252251475
|
0.00001
|
|
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
|
rs782690505
|
0.00001
|
|
NM_001360016.2(G6PD):c.865-5C>T
|
rs781920344
|
0.00001
|
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
|
NM_001365304.2(LOC112694756):c.*621+5G>A
|
rs774939475
|
0.00001
|
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
0.00001
|
|
NM_001366110.1(PAX4):c.772-1G>A
|
rs371715169
|
0.00001
|
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
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.-74G>A
|
rs200884349
|
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.1112C>T (p.Pro371Leu)
|
rs375239909
|
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.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
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.140C>G (p.Ser47Cys)
|
rs747489101
|
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.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
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_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
|
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys)
|
rs746465319
|
0.00001
|
|
NM_001543.5(NDST1):c.883G>A (p.Val295Met)
|
rs747017483
|
0.00001
|
|
NM_001715.2(BLK):c.*505G>T
|
rs886037621
|
0.00001
|
|
NM_001715.2(BLK):c.-267C>T
|
rs886062591
|
0.00001
|
|
NM_001715.2(BLK):c.-375G>A
|
rs886062590
|
0.00001
|
|
NM_001715.2(BLK):c.-484G>A
|
rs761744676
|
0.00001
|
|
NM_001715.3(BLK):c.*366G>A
|
rs977140703
|
0.00001
|
|
NM_001715.3(BLK):c.*461G>A
|
rs1204192053
|
0.00001
|
|
NM_001715.3(BLK):c.1046C>T (p.Ala349Val)
|
rs759976637
|
0.00001
|
|
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)
|
rs142803179
|
0.00001
|
|
NM_001715.3(BLK):c.1252G>A (p.Val418Met)
|
rs373565757
|
0.00001
|
|
NM_001715.3(BLK):c.1308C>T (p.Tyr436=)
|
rs886062596
|
0.00001
|
|
NM_001715.3(BLK):c.1371C>T (p.Pro457=)
|
rs1356289485
|
0.00001
|
|
NM_001715.3(BLK):c.677A>C (p.Gln226Pro)
|
rs551088779
|
0.00001
|
|
NM_001715.3(BLK):c.892C>T (p.Arg298Ter)
|
rs745877998
|
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_001807.6(CEL):c.217+34C>T
|
rs778382071
|
0.00001
|
|
NM_001807.6(CEL):c.703C>T (p.Arg235Ter)
|
rs778611627
|
0.00001
|
|
NM_001931.5(DLAT):c.1071T>C (p.Val357=)
|
rs1306854057
|
0.00001
|
|
NM_001931.5(DLAT):c.1198-20C>T
|
rs1281574403
|
0.00001
|
|
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)
|
rs781794850
|
0.00001
|
|
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)
|
rs782233322
|
0.00001
|
|
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
|
rs1221769620
|
0.00001
|
|
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)
|
rs1555181965
|
0.00001
|
|
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)
|
rs113521778
|
0.00001
|
|
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)
|
rs147456178
|
0.00001
|
|
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)
|
rs1864460439
|
0.00001
|
|
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)
|
rs1864460815
|
0.00001
|
|
NM_001931.5(DLAT):c.1677+4G>C
|
rs782793536
|
0.00001
|
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
|
NM_001931.5(DLAT):c.240G>A (p.Ser80=)
|
rs587735788
|
0.00001
|
|
NM_001931.5(DLAT):c.252C>T (p.Arg84=)
|
rs782672095
|
0.00001
|
|
NM_001931.5(DLAT):c.267C>A (p.Pro89=)
|
rs782078082
|
0.00001
|
|
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)
|
rs782271482
|
0.00001
|
|
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
|
rs1035034726
|
0.00001
|
|
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)
|
rs200147835
|
0.00001
|
|
NM_001931.5(DLAT):c.381+5_381+6insC
|
rs782376838
|
0.00001
|
|
NM_001931.5(DLAT):c.381+6T>G
|
rs1555179251
|
0.00001
|
|
NM_001931.5(DLAT):c.381+8T>G
|
rs782048424
|
0.00001
|
|
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)
|
rs781991355
|
0.00001
|
|
NM_001931.5(DLAT):c.654C>T (p.His218=)
|
rs1472423442
|
0.00001
|
|
NM_001931.5(DLAT):c.759A>G (p.Ala253=)
|
rs914123181
|
0.00001
|
|
NM_001931.5(DLAT):c.864C>G (p.Thr288=)
|
rs782236703
|
0.00001
|
|
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)
|
rs1198304536
|
0.00001
|
|
NM_001931.5(DLAT):c.975G>A (p.Pro325=)
|
rs1432866316
|
0.00001
|
|
NM_001931.5(DLAT):c.981C>T (p.Ala327=)
|
rs782157762
|
0.00001
|
|
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
|
rs781861956
|
0.00001
|
|
NM_002076.3(GNS):c.-161T>C
|
rs769119181
|
0.00001
|
|
NM_002076.4(GNS):c.*1435G>A
|
rs547333907
|
0.00001
|
|
NM_002076.4(GNS):c.*2571T>C
|
rs995044057
|
0.00001
|
|
NM_002076.4(GNS):c.*2699G>C
|
rs867153534
|
0.00001
|
|
NM_002076.4(GNS):c.*334C>T
|
rs886049771
|
0.00001
|
|
NM_002076.4(GNS):c.*764G>A
|
rs886049767
|
0.00001
|
|
NM_002076.4(GNS):c.*826G>A
|
rs886049766
|
0.00001
|
|
NM_002076.4(GNS):c.*86A>T
|
rs1868866389
|
0.00001
|
|
NM_002076.4(GNS):c.*985A>G
|
rs531715804
|
0.00001
|
|
NM_002076.4(GNS):c.-83G>C
|
rs1290374156
|
0.00001
|
|
NM_002076.4(GNS):c.1021_1022insTCTT (p.Arg341fs)
|
rs1470760407
|
0.00001
|
|
NM_002076.4(GNS):c.1071T>C (p.Pro357=)
|
rs779476775
|
0.00001
|
|
NM_002076.4(GNS):c.1089G>A (p.Gln363=)
|
rs369866661
|
0.00001
|
|
NM_002076.4(GNS):c.1099-5C>T
|
rs1277798355
|
0.00001
|
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
|
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
|
rs756633427
|
0.00001
|
|
NM_002076.4(GNS):c.1152C>T (p.Tyr384=)
|
rs753238075
|
0.00001
|
|
NM_002076.4(GNS):c.1164G>A (p.Lys388=)
|
rs1263703439
|
0.00001
|
|
NM_002076.4(GNS):c.1197T>C (p.Ile399=)
|
rs1454694759
|
0.00001
|
|
NM_002076.4(GNS):c.1200+12G>A
|
rs771806213
|
0.00001
|
|
NM_002076.4(GNS):c.1200+8T>G
|
rs768052687
|
0.00001
|
|
NM_002076.4(GNS):c.1201-7T>C
|
rs771699876
|
0.00001
|
|
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)
|
rs1364524364
|
0.00001
|
|
NM_002076.4(GNS):c.1227A>T (p.Arg409=)
|
rs1417176156
|
0.00001
|
|
NM_002076.4(GNS):c.1251A>G (p.Gln417=)
|
rs1324161117
|
0.00001
|
|
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
|
rs1177531995
|
0.00001
|
|
NM_002076.4(GNS):c.1262G>A (p.Arg421His)
|
rs774084161
|
0.00001
|
|
NM_002076.4(GNS):c.1266C>T (p.Asn422=)
|
rs770070081
|
0.00001
|
|
NM_002076.4(GNS):c.12G>A (p.Leu4=)
|
rs1252707980
|
0.00001
|
|
NM_002076.4(GNS):c.1302C>A (p.Gly434=)
|
rs747491925
|
0.00001
|
|
NM_002076.4(GNS):c.1302C>T (p.Gly434=)
|
rs747491925
|
0.00001
|
|
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn)
|
rs1345511245
|
0.00001
|
|
NM_002076.4(GNS):c.1329A>G (p.Val443=)
|
rs745896040
|
0.00001
|
|
NM_002076.4(GNS):c.1368G>A (p.Arg456=)
|
rs201966474
|
0.00001
|
|
NM_002076.4(GNS):c.1381T>C (p.Leu461=)
|
rs765783864
|
0.00001
|
|
NM_002076.4(GNS):c.1420-7C>T
|
rs764819766
|
0.00001
|
|
NM_002076.4(GNS):c.1452C>T (p.Asp484=)
|
rs1252524521
|
0.00001
|
|
NM_002076.4(GNS):c.150G>A (p.Val50=)
|
rs1260892915
|
0.00001
|
|
NM_002076.4(GNS):c.1512C>T (p.Asn504=)
|
rs781191329
|
0.00001
|
|
NM_002076.4(GNS):c.1578C>T (p.Pro526=)
|
rs753472052
|
0.00001
|
|
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)
|
rs1430079019
|
0.00001
|
|
NM_002076.4(GNS):c.1603A>G (p.Met535Val)
|
rs1320846022
|
0.00001
|
|
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
|
rs768291103
|
0.00001
|
|
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
|
rs766615352
|
0.00001
|
|
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)
|
rs756752200
|
0.00001
|
|
NM_002076.4(GNS):c.1654C>T (p.Leu552=)
|
rs751913045
|
0.00001
|
|
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)
|
rs766745346
|
0.00001
|
|
NM_002076.4(GNS):c.16C>T (p.Leu6=)
|
rs746189087
|
0.00001
|
|
NM_002076.4(GNS):c.264T>C (p.Ser88=)
|
rs1869945578
|
0.00001
|
|
NM_002076.4(GNS):c.282C>T (p.Ser94=)
|
rs1318657728
|
0.00001
|
|
NM_002076.4(GNS):c.324C>T (p.His108=)
|
rs748968142
|
0.00001
|
|
NM_002076.4(GNS):c.337A>G (p.Thr113Ala)
|
rs886049772
|
0.00001
|
|
NM_002076.4(GNS):c.351C>T (p.Asn117=)
|
rs748055773
|
0.00001
|
|
NM_002076.4(GNS):c.355del (p.Ser119fs)
|
rs749187018
|
0.00001
|
|
NM_002076.4(GNS):c.381A>G (p.Gln127=)
|
rs374002057
|
0.00001
|
|
NM_002076.4(GNS):c.459+8G>A
|
rs199789530
|
0.00001
|
|
NM_002076.4(GNS):c.45C>T (p.Ser15=)
|
rs749771186
|
0.00001
|
|
NM_002076.4(GNS):c.492C>T (p.His164=)
|
rs773419903
|
0.00001
|
|
NM_002076.4(GNS):c.525+10T>C
|
rs375745502
|
0.00001
|
|
NM_002076.4(GNS):c.528A>G (p.Glu176=)
|
rs771492549
|
0.00001
|
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
0.00001
|
|
NM_002076.4(GNS):c.552C>T (p.Tyr184=)
|
rs375799237
|
0.00001
|
|
NM_002076.4(GNS):c.558G>A (p.Leu186=)
|
rs200414276
|
0.00001
|
|
NM_002076.4(GNS):c.57G>A (p.Leu19=)
|
rs1332308897
|
0.00001
|
|
NM_002076.4(GNS):c.625-17A>G
|
rs950921191
|
0.00001
|
|
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys)
|
rs777980972
|
0.00001
|
|
NM_002076.4(GNS):c.682A>G (p.Met228Val)
|
rs1338194520
|
0.00001
|
|
NM_002076.4(GNS):c.699G>A (p.Ala233=)
|
rs762468558
|
0.00001
|
|
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)
|
rs540537083
|
0.00001
|
|
NM_002076.4(GNS):c.746A>C (p.Gln249Pro)
|
rs756406058
|
0.00001
|
|
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)
|
rs978501400
|
0.00001
|
|
NM_002076.4(GNS):c.875+2del
|
rs1219484230
|
0.00001
|
|
NM_002076.4(GNS):c.875+9T>C
|
rs774743479
|
0.00001
|
|
NM_002076.4(GNS):c.942G>A (p.Gly314=)
|
rs376505567
|
0.00001
|
|
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
|
NM_002076.4(GNS):c.9C>G (p.Leu3=)
|
rs1479493439
|
0.00001
|
|
NM_002103.5(GYS1):c.*110G>A
|
rs1008518917
|
0.00001
|
|
NM_002103.5(GYS1):c.*413G>A
|
rs1296511627
|
0.00001
|
|
NM_002103.5(GYS1):c.*472G>A
|
rs886054566
|
0.00001
|
|
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
|
rs1214342035
|
0.00001
|
|
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)
|
rs751121252
|
0.00001
|
|
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln)
|
rs767829857
|
0.00001
|
|
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys)
|
rs769215150
|
0.00001
|
|
NM_002103.5(GYS1):c.1062+20G>A
|
rs1166929573
|
0.00001
|
|
NM_002103.5(GYS1):c.1062+5G>A
|
rs199937247
|
0.00001
|
|
NM_002103.5(GYS1):c.1063-4G>A
|
rs201159254
|
0.00001
|
|
NM_002103.5(GYS1):c.1063-8C>T
|
rs749468005
|
0.00001
|
|
NM_002103.5(GYS1):c.1110G>A (p.Ala370=)
|
rs200386346
|
0.00001
|
|
NM_002103.5(GYS1):c.1155G>A (p.Val385=)
|
rs1462804703
|
0.00001
|
|
NM_002103.5(GYS1):c.1169+13C>T
|
rs775362871
|
0.00001
|
|
NM_002103.5(GYS1):c.1170-2A>G
|
rs1219432457
|
0.00001
|
|
NM_002103.5(GYS1):c.1176G>A (p.Thr392=)
|
rs151212573
|
0.00001
|
|
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr)
|
rs1234293707
|
0.00001
|
|
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn)
|
rs1340897578
|
0.00001
|
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
|
NM_002103.5(GYS1):c.1261G>C (p.Asp421His)
|
rs763908374
|
0.00001
|
|
NM_002103.5(GYS1):c.1308+5G>A
|
rs779587345
|
0.00001
|
|
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)
|
rs756191455
|
0.00001
|
|
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
|
rs558436703
|
0.00001
|
|
NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter)
|
rs121434584
|
0.00001
|
|
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln)
|
rs774914573
|
0.00001
|
|
NM_002103.5(GYS1):c.1437G>A (p.Pro479=)
|
rs752556651
|
0.00001
|
|
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
|
rs949286022
|
0.00001
|
|
NM_002103.5(GYS1):c.1493G>A (p.Arg498His)
|
rs757918424
|
0.00001
|
|
NM_002103.5(GYS1):c.1533T>C (p.Pro511=)
|
rs764544117
|
0.00001
|
|
NM_002103.5(GYS1):c.153G>A (p.Ala51=)
|
rs754432159
|
0.00001
|
|
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile)
|
rs1395831465
|
0.00001
|
|
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu)
|
rs907999376
|
0.00001
|
|
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
|
rs1460204907
|
0.00001
|
|
NM_002103.5(GYS1):c.1572C>T (p.Ile524=)
|
rs529330816
|
0.00001
|
|
NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr)
|
rs2038555927
|
0.00001
|
|
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val)
|
rs768029465
|
0.00001
|
|
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn)
|
rs1207102551
|
0.00001
|
|
NM_002103.5(GYS1):c.1809+7C>T
|
rs750481025
|
0.00001
|
|
NM_002103.5(GYS1):c.1810-14C>T
|
rs2038529046
|
0.00001
|
|
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn)
|
rs2038528451
|
0.00001
|
|
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
|
rs763358013
|
0.00001
|
|
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
|
rs2038526603
|
0.00001
|
|
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys)
|
rs757274657
|
0.00001
|
|
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
|
rs1421512196
|
0.00001
|
|
NM_002103.5(GYS1):c.1891-11G>A
|
rs1243119458
|
0.00001
|
|
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu)
|
rs2038521859
|
0.00001
|
|
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)
|
rs886054569
|
0.00001
|
|
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)
|
rs886054568
|
0.00001
|
|
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
|
rs1177489919
|
0.00001
|
|
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
|
rs1416976109
|
0.00001
|
|
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu)
|
rs376369611
|
0.00001
|
|
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val)
|
rs780892427
|
0.00001
|
|
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
|
rs1024472621
|
0.00001
|
|
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs)
|
rs2038518269
|
0.00001
|
|
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys)
|
rs754310863
|
0.00001
|
|
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly)
|
rs1201413420
|
0.00001
|
|
NM_002103.5(GYS1):c.2124C>G (p.Arg708=)
|
rs1262661557
|
0.00001
|
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
|
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
|
rs370035815
|
0.00001
|
|
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe)
|
rs1437155160
|
0.00001
|
|
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln)
|
rs546920953
|
0.00001
|
|
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
|
rs1369955206
|
0.00001
|
|
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr)
|
rs1042146137
|
0.00001
|
|
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
|
rs1310157370
|
0.00001
|
|
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
|
rs754411503
|
0.00001
|
|
NM_002103.5(GYS1):c.300+3G>A
|
rs199823455
|
0.00001
|
|
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg)
|
rs763807232
|
0.00001
|
|
NM_002103.5(GYS1):c.314G>A (p.Arg105His)
|
rs775388088
|
0.00001
|
|
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
|
rs778349716
|
0.00001
|
|
NM_002103.5(GYS1):c.383G>A (p.Arg128His)
|
rs755470149
|
0.00001
|
|
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
|
rs754705699
|
0.00001
|
|
NM_002103.5(GYS1):c.438C>T (p.Arg146=)
|
rs1395632551
|
0.00001
|
|
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
|
rs548135246
|
0.00001
|
|
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
|
rs2038838431
|
0.00001
|
|
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
|
rs750379099
|
0.00001
|
|
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln)
|
rs1044957678
|
0.00001
|
|
NM_002103.5(GYS1):c.620C>T (p.Thr207Met)
|
rs760191000
|
0.00001
|
|
NM_002103.5(GYS1):c.621G>A (p.Thr207=)
|
rs767865045
|
0.00001
|
|
NM_002103.5(GYS1):c.637C>T (p.Leu213=)
|
rs764668070
|
0.00001
|
|
NM_002103.5(GYS1):c.679-16del
|
rs755898154
|
0.00001
|
|
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
|
rs761764430
|
0.00001
|
|
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr)
|
rs376523274
|
0.00001
|
|
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
|
rs757728625
|
0.00001
|
|
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys)
|
rs138606563
|
0.00001
|
|
NM_002103.5(GYS1):c.885C>T (p.Asn295=)
|
rs2038787036
|
0.00001
|
|
NM_002103.5(GYS1):c.941+7G>A
|
rs555810103
|
0.00001
|
|
NM_002103.5(GYS1):c.942-9G>A
|
rs762629200
|
0.00001
|
|
NM_002294.3(LAMP2):c.*238G>A
|
rs2058520973
|
0.00001
|
|
NM_002294.3(LAMP2):c.*3276C>T
|
rs1043524915
|
0.00001
|
|
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly)
|
rs1319752625
|
0.00001
|
|
NM_002294.3(LAMP2):c.1006A>T (p.Thr336Ser)
|
rs1343337245
|
0.00001
|
|
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser)
|
rs775416221
|
0.00001
|
|
NM_002294.3(LAMP2):c.1068T>C (p.Asn356=)
|
rs769643748
|
0.00001
|
|
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met)
|
rs886038907
|
0.00001
|
|
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=)
|
rs1476303419
|
0.00001
|
|
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu)
|
rs1375151119
|
0.00001
|
|
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val)
|
rs747301460
|
0.00001
|
|
NM_002294.3(LAMP2):c.1140G>A (p.Ala380=)
|
rs1029569080
|
0.00001
|
|
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=)
|
rs752231323
|
0.00001
|
|
NM_002294.3(LAMP2):c.178A>G (p.Thr60Ala)
|
rs1207512652
|
0.00001
|
|
NM_002294.3(LAMP2):c.183+9A>G
|
rs753577843
|
0.00001
|
|
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile)
|
rs1358581771
|
0.00001
|
|
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
|
rs776875696
|
0.00001
|
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
|
NM_002294.3(LAMP2):c.214G>A (p.Val72Met)
|
rs778193991
|
0.00001
|
|
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu)
|
rs878854484
|
0.00001
|
|
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser)
|
rs371149731
|
0.00001
|
|
NM_002294.3(LAMP2):c.30G>A (p.Pro10=)
|
rs11540224
|
0.00001
|
|
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala)
|
rs748494547
|
0.00001
|
|
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu)
|
rs1921041200
|
0.00001
|
|
NM_002294.3(LAMP2):c.397+8T>A
|
rs1257675921
|
0.00001
|
|
NM_002294.3(LAMP2):c.415G>A (p.Glu139Lys)
|
rs373007615
|
0.00001
|
|
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser)
|
rs773525538
|
0.00001
|
|
NM_002294.3(LAMP2):c.462T>C (p.Asn154=)
|
rs772164739
|
0.00001
|
|
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
|
rs104894857
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+14A>G
|
rs1180149958
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+17T>G
|
rs1056255642
|
0.00001
|
|
NM_002294.3(LAMP2):c.556+20C>G
|
rs1253220845
|
0.00001
|
|
NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr)
|
rs750457485
|
0.00001
|
|
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile)
|
rs767918596
|
0.00001
|
|
NM_002294.3(LAMP2):c.605A>C (p.His202Pro)
|
rs730880475
|
0.00001
|
|
NM_002294.3(LAMP2):c.611C>T (p.Thr204Ile)
|
rs1459886510
|
0.00001
|
|
NM_002294.3(LAMP2):c.697C>G (p.Leu233Val)
|
rs772577020
|
0.00001
|
|
NM_002294.3(LAMP2):c.709A>G (p.Met237Val)
|
rs746678211
|
0.00001
|
|
NM_002294.3(LAMP2):c.741+10T>C
|
rs1339351790
|
0.00001
|
|
NM_002294.3(LAMP2):c.768C>T (p.Pro256=)
|
rs772901542
|
0.00001
|
|
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile)
|
rs111703410
|
0.00001
|
|
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala)
|
rs1131691290
|
0.00001
|
|
NM_002294.3(LAMP2):c.885T>C (p.Tyr295=)
|
rs771546093
|
0.00001
|
|
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
|
rs1271107737
|
0.00001
|
|
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys)
|
rs1292531971
|
0.00001
|
|
NM_002294.3(LAMP2):c.972C>G (p.Pro324=)
|
rs1229203142
|
0.00001
|
|
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile)
|
rs960241982
|
0.00001
|
|
NM_002299.4(LCT):c.*275A>G
|
rs1008625417
|
0.00001
|
|
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)
|
rs1428765941
|
0.00001
|
|
NM_002299.4(LCT):c.1116G>A (p.Ala372=)
|
rs200277615
|
0.00001
|
|
NM_002299.4(LCT):c.1902C>T (p.Pro634=)
|
rs202014246
|
0.00001
|
|
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)
|
rs546741050
|
0.00001
|
|
NM_002299.4(LCT):c.2177G>A (p.Arg726His)
|
rs886054866
|
0.00001
|
|
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
|
rs139740186
|
0.00001
|
|
NM_002299.4(LCT):c.319G>A (p.Glu107Lys)
|
rs761296720
|
0.00001
|
|
NM_002299.4(LCT):c.3483C>T (p.Asn1161=)
|
rs143927262
|
0.00001
|
|
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met)
|
rs148317168
|
0.00001
|
|
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)
|
rs386833833
|
0.00001
|
|
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala)
|
rs557029000
|
0.00001
|
|
NM_002299.4(LCT):c.5529C>T (p.Pro1843=)
|
rs761696901
|
0.00001
|
|
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)
|
rs1483785677
|
0.00001
|
|
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala)
|
rs886054861
|
0.00001
|
|
NM_002299.4(LCT):c.643G>A (p.Gly215Arg)
|
rs886054869
|
0.00001
|
|
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
|
rs747805112
|
0.00001
|
|
NM_002300.8(LDHB):c.129+11A>G
|
rs886049166
|
0.00001
|
|
NM_002300.8(LDHB):c.421+7T>C
|
rs375249355
|
0.00001
|
|
NM_002300.8(LDHB):c.422-10A>G
|
rs886049165
|
0.00001
|
|
NM_002300.8(LDHB):c.515G>A (p.Arg172His)
|
rs118203895
|
0.00001
|
|
NM_002300.8(LDHB):c.727A>G (p.Ile243Val)
|
rs750220072
|
0.00001
|
|
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)
|
rs200158121
|
0.00001
|
|
NM_002500.4(NEUROD1):c.*1583T>C
|
rs1035423254
|
0.00001
|
|
NM_002500.4(NEUROD1):c.-102G>A
|
rs886055328
|
0.00001
|
|
NM_002500.5(NEUROD1):c.*370_*371insT
|
rs886055326
|
0.00001
|
|
NM_002500.5(NEUROD1):c.*6C>A
|
rs576676213
|
0.00001
|
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
|
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)
|
rs763871039
|
0.00001
|
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
|
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His)
|
rs1422349580
|
0.00001
|
|
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
|
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys)
|
rs1284904822
|
0.00001
|
|
NM_002591.4(PCK1):c.*528C>G
|
rs886056803
|
0.00001
|
|
NM_002591.4(PCK1):c.407-11G>A
|
rs775923881
|
0.00001
|
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
|
NM_002637.4(PHKA1):c.1137+12A>G
|
rs1556299862
|
0.00001
|
|
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter)
|
rs1556299510
|
0.00001
|
|
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe)
|
rs199582889
|
0.00001
|
|
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
|
rs782651487
|
0.00001
|
|
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys)
|
rs782310573
|
0.00001
|
|
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
|
rs782400389
|
0.00001
|
|
NM_002637.4(PHKA1):c.1459+4A>G
|
rs1203297354
|
0.00001
|
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
|
NM_002637.4(PHKA1):c.1759C>T (p.Arg587Ter)
|
rs1157788242
|
0.00001
|
|
NM_002637.4(PHKA1):c.2088C>T (p.Thr696=)
|
rs1556276493
|
0.00001
|
|
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=)
|
rs1228510553
|
0.00001
|
|
NM_002637.4(PHKA1):c.2370-14C>T
|
rs782784720
|
0.00001
|
|
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp)
|
rs782789642
|
0.00001
|
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
|
NM_002637.4(PHKA1):c.2625G>A (p.Ala875=)
|
rs781930090
|
0.00001
|
|
NM_002637.4(PHKA1):c.2763T>A (p.Gly921=)
|
rs541124093
|
0.00001
|
|
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
|
rs782702439
|
0.00001
|
|
NM_002637.4(PHKA1):c.3034-6T>A
|
rs199530028
|
0.00001
|
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
|
NM_002637.4(PHKA1):c.3144T>C (p.Asp1048=)
|
rs1556228374
|
0.00001
|
|
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln)
|
rs184743934
|
0.00001
|
|
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg)
|
rs1181595611
|
0.00001
|
|
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met)
|
rs782099054
|
0.00001
|
|
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
|
rs1162142066
|
0.00001
|
|
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile)
|
rs782528795
|
0.00001
|
|
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
|
rs782659023
|
0.00001
|
|
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
|
rs1185410324
|
0.00001
|
|
NM_002637.4(PHKA1):c.855C>T (p.Thr285=)
|
rs1004871695
|
0.00001
|
|
NM_002863.5(PYGL):c.-29A>C
|
rs538311514
|
0.00001
|
|
NM_002863.5(PYGL):c.1029T>G (p.Pro343=)
|
rs921178179
|
0.00001
|
|
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)
|
rs113993978
|
0.00001
|
|
NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala)
|
rs2050436450
|
0.00001
|
|
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu)
|
rs143571464
|
0.00001
|
|
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
|
rs138888959
|
0.00001
|
|
NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser)
|
rs202149628
|
0.00001
|
|
NM_002863.5(PYGL):c.1726C>T (p.Arg576Ter)
|
rs774646420
|
0.00001
|
|
NM_002863.5(PYGL):c.1748A>G (p.His583Arg)
|
rs375136222
|
0.00001
|
|
NM_002863.5(PYGL):c.1970-15T>A
|
rs770476567
|
0.00001
|
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
|
NM_002863.5(PYGL):c.2070C>T (p.Ile690=)
|
rs781089811
|
0.00001
|
|
NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys)
|
rs535447490
|
0.00001
|
|
NM_002863.5(PYGL):c.2380-15A>G
|
rs886050537
|
0.00001
|
|
NM_002863.5(PYGL):c.2481C>T (p.Asn827=)
|
rs755274555
|
0.00001
|
|
NM_002863.5(PYGL):c.24G>A (p.Gln8=)
|
rs769083575
|
0.00001
|
|
NM_002863.5(PYGL):c.275T>C (p.Met92Thr)
|
rs767745350
|
0.00001
|
|
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
|
rs1273055538
|
0.00001
|
|
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser)
|
rs780574052
|
0.00001
|
|
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp)
|
rs749811385
|
0.00001
|
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
|
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)
|
rs113993975
|
0.00001
|
|
NM_002863.5(PYGL):c.704T>C (p.Met235Thr)
|
rs200920293
|
0.00001
|
|
NM_002863.5(PYGL):c.809G>A (p.Arg270Gln)
|
rs755488866
|
0.00001
|
|
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala)
|
rs774143179
|
0.00001
|
|
NM_002863.5(PYGL):c.993G>A (p.Pro331=)
|
rs1156602131
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)
|
rs779993355
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1021+14C>T
|
rs1349979357
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala)
|
rs534057160
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=)
|
rs761863294
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
|
rs907643541
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1449+13C>A
|
rs769589113
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)
|
rs767926604
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1792+12T>C
|
rs886051963
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)
|
rs201073991
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)
|
rs755803144
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=)
|
rs557690622
|
0.00001
|
|
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)
|
rs775638719
|
0.00001
|
|
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)
|
rs762905275
|
0.00001
|
|
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr)
|
rs886037850
|
0.00001
|
|
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)
|
rs770214617
|
0.00001
|
|
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)
|
rs771307472
|
0.00001
|
|
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His)
|
rs886051960
|
0.00001
|
|
NM_003051.4(SLC16A1):c.*1018T>G
|
rs774371594
|
0.00001
|
|
NM_003051.4(SLC16A1):c.*1134G>A
|
rs778106916
|
0.00001
|
|
NM_003051.4(SLC16A1):c.*137A>T
|
rs1223206132
|
0.00001
|
|
NM_003051.4(SLC16A1):c.*815G>A
|
rs556305447
|
0.00001
|
|
NM_003051.4(SLC16A1):c.-163T>C
|
rs886045088
|
0.00001
|
|
NM_003051.4(SLC16A1):c.-87C>T
|
rs886045087
|
0.00001
|
|
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)
|
rs756006376
|
0.00001
|
|
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)
|
rs17852382
|
0.00001
|
|
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)
|
rs1461742764
|
0.00001
|
|
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)
|
rs1570620206
|
0.00001
|
|
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)
|
rs775755027
|
0.00001
|
|
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)
|
rs549501840
|
0.00001
|
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
|
NM_003384.3(VRK1):c.1011C>A (p.Gly337=)
|
rs547821991
|
0.00001
|
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
|
NM_003384.3(VRK1):c.1132_1133insT (p.Thr378fs)
|
rs892468166
|
0.00001
|
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
|
NM_003384.3(VRK1):c.1143G>A (p.Glu381=)
|
rs745392801
|
0.00001
|
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
|
NM_003384.3(VRK1):c.144T>C (p.Phe48=)
|
rs1887099492
|
0.00001
|
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
|
NM_003384.3(VRK1):c.264A>G (p.Gln88=)
|
rs200368952
|
0.00001
|
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
|
NM_003384.3(VRK1):c.279A>T (p.Pro93=)
|
rs765294511
|
0.00001
|
|
NM_003384.3(VRK1):c.286+18C>T
|
rs370335226
|
0.00001
|
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
|
NM_003384.3(VRK1):c.345G>T (p.Gly115=)
|
rs747216954
|
0.00001
|
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
|
NM_003384.3(VRK1):c.366T>C (p.Asn122=)
|
rs781389131
|
0.00001
|
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
|
NM_003384.3(VRK1):c.484-4A>G
|
rs572434615
|
0.00001
|
|
NM_003384.3(VRK1):c.507C>T (p.His169=)
|
rs773548929
|
0.00001
|
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
|
NM_003384.3(VRK1):c.588A>T (p.Val196=)
|
rs1387075963
|
0.00001
|
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
|
NM_003384.3(VRK1):c.618A>G (p.Pro206=)
|
rs773555796
|
0.00001
|
|
NM_003384.3(VRK1):c.639C>T (p.Tyr213=)
|
rs1217274457
|
0.00001
|
|
NM_003384.3(VRK1):c.66A>G (p.Gln22=)
|
rs146973955
|
0.00001
|
|
NM_003384.3(VRK1):c.699C>T (p.His233=)
|
rs1372315924
|
0.00001
|
|
NM_003384.3(VRK1):c.6del (p.Arg3fs)
|
rs780789145
|
0.00001
|
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
|
NM_003384.3(VRK1):c.709+10T>C
|
rs1468277298
|
0.00001
|
|
NM_003384.3(VRK1):c.709+9G>A
|
rs1202671679
|
0.00001
|
|
NM_003384.3(VRK1):c.710-14T>C
|
rs1275418589
|
0.00001
|
|
NM_003384.3(VRK1):c.710-9C>A
|
rs757724286
|
0.00001
|
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
|
NM_003384.3(VRK1):c.726T>C (p.Gly242=)
|
rs562273268
|
0.00001
|
|
NM_003384.3(VRK1):c.72A>C (p.Ala24=)
|
rs147698530
|
0.00001
|
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
|
NM_003384.3(VRK1):c.831-12A>G
|
rs1555361641
|
0.00001
|
|
NM_003384.3(VRK1):c.831-18T>A
|
rs746301651
|
0.00001
|
|
NM_003384.3(VRK1):c.846T>C (p.Ile282=)
|
rs759546376
|
0.00001
|
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
|
NM_003384.3(VRK1):c.966C>T (p.Asp322=)
|
rs1302769997
|
0.00001
|
|
NM_003384.3(VRK1):c.99A>C (p.Ala33=)
|
rs1461516851
|
0.00001
|
|
NM_003384.3(VRK1):c.9del (p.Arg3_Val4insTer)
|
rs752086581
|
0.00001
|
|
NM_003477.3(PDHX):c.*742C>T
|
rs577566893
|
0.00001
|
|
NM_003477.3(PDHX):c.-7C>T
|
rs751680964
|
0.00001
|
|
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)
|
rs556425857
|
0.00001
|
|
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
|
rs766725349
|
0.00001
|
|
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
|
rs756023441
|
0.00001
|
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
|
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
|
rs748511132
|
0.00001
|
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
|
NM_003477.3(PDHX):c.479G>A (p.Arg160His)
|
rs747386411
|
0.00001
|
|
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)
|
rs113309941
|
0.00001
|
|
NM_003597.5(KLF11):c.*131G>A
|
rs545836068
|
0.00001
|
|
NM_003597.5(KLF11):c.*1463A>G
|
rs1572448681
|
0.00001
|
|
NM_003597.5(KLF11):c.*1636C>T
|
rs886054735
|
0.00001
|
|
NM_003597.5(KLF11):c.*1725G>C
|
rs374263399
|
0.00001
|
|
NM_003597.5(KLF11):c.*192T>C
|
rs552960564
|
0.00001
|
|
NM_003597.5(KLF11):c.*2103G>A
|
rs1056465665
|
0.00001
|
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
0.00001
|
|
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)
|
rs886054723
|
0.00001
|
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
|
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)
|
rs868399686
|
0.00001
|
|
NM_003597.5(KLF11):c.18C>T (p.Phe6=)
|
rs886054722
|
0.00001
|
|
NM_003597.5(KLF11):c.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
|
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)
|
rs1377863567
|
0.00001
|
|
NM_003597.5(KLF11):c.501C>T (p.Pro167=)
|
rs377399356
|
0.00001
|
|
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)
|
rs759266535
|
0.00001
|
|
NM_003619.4(PRSS12):c.*1435A>G
|
rs1247361243
|
0.00001
|
|
NM_003619.4(PRSS12):c.*1499A>G
|
rs748542086
|
0.00001
|
|
NM_003619.4(PRSS12):c.*658C>T
|
rs549172615
|
0.00001
|
|
NM_003619.4(PRSS12):c.*904A>T
|
rs1025703450
|
0.00001
|
|
NM_003619.4(PRSS12):c.-10C>T
|
rs559605488
|
0.00001
|
|
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys)
|
rs139059047
|
0.00001
|
|
NM_003619.4(PRSS12):c.1293-10A>G
|
rs374374471
|
0.00001
|
|
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu)
|
rs937952328
|
0.00001
|
|
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe)
|
rs377739049
|
0.00001
|
|
NM_003619.4(PRSS12):c.315C>T (p.Phe105=)
|
rs776809807
|
0.00001
|
|
NM_003619.4(PRSS12):c.518G>A (p.Arg173His)
|
rs764862487
|
0.00001
|
|
NM_003619.4(PRSS12):c.821-12C>G
|
rs373973695
|
0.00001
|
|
NM_003805.5(CRADD):c.-2A>G
|
rs1431834925
|
0.00001
|
|
NM_003805.5(CRADD):c.-6-7T>C
|
rs756888040
|
0.00001
|
|
NM_003805.5(CRADD):c.508C>T (p.Arg170Cys)
|
rs749655461
|
0.00001
|
|
NM_004130.4(GYG1):c.1002A>C (p.Gly334=)
|
rs747131744
|
0.00001
|
|
NM_004130.4(GYG1):c.1040C>A (p.Thr347Asn)
|
rs533834445
|
0.00001
|
|
NM_004130.4(GYG1):c.109G>A (p.Val37Met)
|
rs913039791
|
0.00001
|
|
NM_004130.4(GYG1):c.124C>A (p.Gln42Lys)
|
rs1330476252
|
0.00001
|
|
NM_004130.4(GYG1):c.137C>G (p.Ser46Cys)
|
rs142784073
|
0.00001
|
|
NM_004130.4(GYG1):c.143+12G>A
|
rs758525579
|
0.00001
|
|
NM_004130.4(GYG1):c.144-19C>A
|
rs777012497
|
0.00001
|
|
NM_004130.4(GYG1):c.171A>T (p.Glu57Asp)
|
rs1477619940
|
0.00001
|
|
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
|
rs1483682431
|
0.00001
|
|
NM_004130.4(GYG1):c.220T>G (p.Leu74Val)
|
rs1398931853
|
0.00001
|
|
NM_004130.4(GYG1):c.252G>A (p.Leu84=)
|
rs747087827
|
0.00001
|
|
NM_004130.4(GYG1):c.294T>C (p.Cys98=)
|
rs1371218892
|
0.00001
|
|
NM_004130.4(GYG1):c.2T>A (p.Met1Lys)
|
rs1176650262
|
0.00001
|
|
NM_004130.4(GYG1):c.309A>G (p.Ala103=)
|
rs1349302553
|
0.00001
|
|
NM_004130.4(GYG1):c.403G>A (p.Gly135Arg)
|
rs566956486
|
0.00001
|
|
NM_004130.4(GYG1):c.481+2T>C
|
rs1173594490
|
0.00001
|
|
NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)
|
rs148954947
|
0.00001
|
|
NM_004130.4(GYG1):c.609-19A>G
|
rs748162789
|
0.00001
|
|
NM_004130.4(GYG1):c.61G>A (p.Val21Ile)
|
rs1372925900
|
0.00001
|
|
NM_004130.4(GYG1):c.631del (p.Val211fs)
|
rs1429663478
|
0.00001
|
|
NM_004130.4(GYG1):c.663T>C (p.Asn221=)
|
rs1273314125
|
0.00001
|
|
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
|
rs1234846583
|
0.00001
|
|
NM_004130.4(GYG1):c.7+8C>T
|
rs773682836
|
0.00001
|
|
NM_004130.4(GYG1):c.809C>T (p.Thr270Ile)
|
rs1198924627
|
0.00001
|
|
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe)
|
rs1211466583
|
0.00001
|
|
NM_004130.4(GYG1):c.828+5G>A
|
rs200878347
|
0.00001
|
|
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)
|
rs75284499
|
0.00001
|
|
NM_004130.4(GYG1):c.878A>G (p.Lys293Arg)
|
rs975170441
|
0.00001
|
|
NM_004130.4(GYG1):c.926C>T (p.Pro309Leu)
|
rs1014772125
|
0.00001
|
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
|
NM_004130.4(GYG1):c.996T>C (p.Tyr332=)
|
rs367851689
|
0.00001
|
|
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)
|
rs370667926
|
0.00001
|
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
|
NM_004830.4(MED23):c.382G>A (p.Gly128Arg)
|
rs569927513
|
0.00001
|
|
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)
|
rs751590798
|
0.00001
|
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
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_005327.4(HADH):c.-86G>T
|
rs528952923
|
0.00001
|
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
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.171C>A (p.Asp57Glu)
|
rs137853102
|
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.406A>G (p.Lys136Glu)
|
rs1262186453
|
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_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
|
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala)
|
rs149824165
|
0.00001
|
|
NM_005566.4(LDHA):c.*175C>T
|
rs886048089
|
0.00001
|
|
NM_005566.4(LDHA):c.*228G>A
|
rs1341687956
|
0.00001
|
|
NM_005566.4(LDHA):c.*253G>A
|
rs758268446
|
0.00001
|
|
NM_005566.4(LDHA):c.*312G>A
|
rs200982215
|
0.00001
|
|
NM_005566.4(LDHA):c.*706G>A
|
rs757942016
|
0.00001
|
|
NM_005566.4(LDHA):c.*914A>G
|
rs147174554
|
0.00001
|
|
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)
|
rs144856598
|
0.00001
|
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
|
NM_005566.4(LDHA):c.291G>A (p.Gly97=)
|
rs200724597
|
0.00001
|
|
NM_005566.4(LDHA):c.30T>C (p.Tyr10=)
|
rs768444502
|
0.00001
|
|
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly)
|
rs1264619847
|
0.00001
|
|
NM_005566.4(LDHA):c.833A>C (p.Lys278Thr)
|
rs1244071770
|
0.00001
|
|
NM_005566.4(LDHA):c.944G>A (p.Arg315His)
|
rs140090654
|
0.00001
|
|
NM_005609.3(PYGM):c.-234C>T
|
rs886048466
|
0.00001
|
|
NM_005609.4(PYGM):c.*80G>A
|
rs1245399507
|
0.00001
|
|
NM_005609.4(PYGM):c.1000-10C>T
|
rs749114783
|
0.00001
|
|
NM_005609.4(PYGM):c.1005C>T (p.Ala335=)
|
rs773605626
|
0.00001
|
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
|
NM_005609.4(PYGM):c.1044C>T (p.Pro348=)
|
rs763750599
|
0.00001
|
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
|
NM_005609.4(PYGM):c.1092+1G>A
|
rs749560316
|
0.00001
|
|
NM_005609.4(PYGM):c.1092+7T>G
|
rs1565535891
|
0.00001
|
|
NM_005609.4(PYGM):c.1093-10C>T
|
rs763253788
|
0.00001
|
|
NM_005609.4(PYGM):c.1095G>A (p.Ala365=)
|
rs1370804680
|
0.00001
|
|
NM_005609.4(PYGM):c.1146C>T (p.Pro382=)
|
rs767963946
|
0.00001
|
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
|
NM_005609.4(PYGM):c.1159del (p.Arg387fs)
|
rs2058376454
|
0.00001
|
|
NM_005609.4(PYGM):c.1167G>A (p.Pro389=)
|
rs775798000
|
0.00001
|
|
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro)
|
rs759336535
|
0.00001
|
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
|
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)
|
rs371264447
|
0.00001
|
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
|
NM_005609.4(PYGM):c.1239+7C>T
|
rs1382003123
|
0.00001
|
|
NM_005609.4(PYGM):c.1240-16G>A
|
rs573898801
|
0.00001
|
|
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
|
rs767347157
|
0.00001
|
|
NM_005609.4(PYGM):c.1248G>A (p.Ala416=)
|
rs1439165952
|
0.00001
|
|
NM_005609.4(PYGM):c.1251C>T (p.Ala417=)
|
rs1328262607
|
0.00001
|
|
NM_005609.4(PYGM):c.1276C>T (p.Leu426=)
|
rs1222482593
|
0.00001
|
|
NM_005609.4(PYGM):c.1278G>A (p.Leu426=)
|
rs1364173099
|
0.00001
|
|
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)
|
rs756303162
|
0.00001
|
|
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu)
|
rs1212604
|
0.00001
|
|
NM_005609.4(PYGM):c.1290G>A (p.Ser430=)
|
rs1039138727
|
0.00001
|
|
NM_005609.4(PYGM):c.1305C>T (p.Gly435=)
|
rs1433618435
|
0.00001
|
|
NM_005609.4(PYGM):c.1308A>G (p.Ala436=)
|
rs912122302
|
0.00001
|
|
NM_005609.4(PYGM):c.1317C>T (p.Arg439=)
|
rs2058372225
|
0.00001
|
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
|
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)
|
rs779562449
|
0.00001
|
|
NM_005609.4(PYGM):c.1365C>T (p.Gly455=)
|
rs1056780
|
0.00001
|
|
NM_005609.4(PYGM):c.1383C>T (p.Ser461=)
|
rs775978754
|
0.00001
|
|
NM_005609.4(PYGM):c.1395G>A (p.Lys465=)
|
rs555057489
|
0.00001
|
|
NM_005609.4(PYGM):c.1518+9C>G
|
rs1210456408
|
0.00001
|
|
NM_005609.4(PYGM):c.1519-10C>T
|
rs749087795
|
0.00001
|
|
NM_005609.4(PYGM):c.1519-4A>G
|
rs1359033480
|
0.00001
|
|
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
|
rs575153481
|
0.00001
|
|
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala)
|
rs1287109702
|
0.00001
|
|
NM_005609.4(PYGM):c.1575T>C (p.Phe525=)
|
rs371787613
|
0.00001
|
|
NM_005609.4(PYGM):c.1620+15A>C
|
rs1463934943
|
0.00001
|
|
NM_005609.4(PYGM):c.1620+3G>T
|
rs548943016
|
0.00001
|
|
NM_005609.4(PYGM):c.1621-14G>A
|
rs770892872
|
0.00001
|
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
0.00001
|
|
NM_005609.4(PYGM):c.1702G>A (p.Val568Met)
|
rs757791045
|
0.00001
|
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
|
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln)
|
rs143550601
|
0.00001
|
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
|
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
|
rs760543538
|
0.00001
|
|
NM_005609.4(PYGM):c.1761G>A (p.Leu587=)
|
rs1395637502
|
0.00001
|
|
NM_005609.4(PYGM):c.1768+9C>T
|
rs1415602372
|
0.00001
|
|
NM_005609.4(PYGM):c.1769-10T>G
|
rs1565534037
|
0.00001
|
|
NM_005609.4(PYGM):c.1827+9C>T
|
rs765020570
|
0.00001
|
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
|
NM_005609.4(PYGM):c.1828-5C>T
|
rs775492066
|
0.00001
|
|
NM_005609.4(PYGM):c.183C>T (p.Arg61=)
|
rs1182278359
|
0.00001
|
|
NM_005609.4(PYGM):c.1944C>T (p.Asn648=)
|
rs748710834
|
0.00001
|
|
NM_005609.4(PYGM):c.1953C>T (p.Val651=)
|
rs2058354200
|
0.00001
|
|
NM_005609.4(PYGM):c.1962C>T (p.Ala654=)
|
rs368964406
|
0.00001
|
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
|
NM_005609.4(PYGM):c.1970-5C>T
|
rs1414755282
|
0.00001
|
|
NM_005609.4(PYGM):c.198G>C (p.Gly66=)
|
rs776064700
|
0.00001
|
|
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)
|
rs794727189
|
0.00001
|
|
NM_005609.4(PYGM):c.2070T>C (p.Ile690=)
|
rs766360254
|
0.00001
|
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
|
NM_005609.4(PYGM):c.2121A>G (p.Glu707=)
|
rs746678142
|
0.00001
|
|
NM_005609.4(PYGM):c.2136T>C (p.Phe712=)
|
rs2058346910
|
0.00001
|
|
NM_005609.4(PYGM):c.2177+8G>A
|
rs775261125
|
0.00001
|
|
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
|
rs760277933
|
0.00001
|
|
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys)
|
rs1449944847
|
0.00001
|
|
NM_005609.4(PYGM):c.2271C>T (p.Asp757=)
|
rs1312751218
|
0.00001
|
|
NM_005609.4(PYGM):c.2274G>A (p.Leu758=)
|
rs765011069
|
0.00001
|
|
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
|
rs754822104
|
0.00001
|
|
NM_005609.4(PYGM):c.2313-4C>T
|
rs1163053695
|
0.00001
|
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
|
NM_005609.4(PYGM):c.2325C>T (p.Phe775=)
|
rs1251258706
|
0.00001
|
|
NM_005609.4(PYGM):c.2364C>T (p.Val788=)
|
rs1162487973
|
0.00001
|
|
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
|
rs750080547
|
0.00001
|
|
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)
|
rs577589879
|
0.00001
|
|
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
|
rs377401213
|
0.00001
|
|
NM_005609.4(PYGM):c.2397G>A (p.Thr799=)
|
rs374322115
|
0.00001
|
|
NM_005609.4(PYGM):c.2406G>C (p.Val802=)
|
rs1166335998
|
0.00001
|
|
NM_005609.4(PYGM):c.2424C>T (p.Thr808=)
|
rs769860534
|
0.00001
|
|
NM_005609.4(PYGM):c.2427T>C (p.Ser809=)
|
rs746117656
|
0.00001
|
|
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
|
rs1213033233
|
0.00001
|
|
NM_005609.4(PYGM):c.244-7T>C
|
rs773415576
|
0.00001
|
|
NM_005609.4(PYGM):c.2451C>T (p.Thr817=)
|
rs2058311690
|
0.00001
|
|
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp)
|
rs747567834
|
0.00001
|
|
NM_005609.4(PYGM):c.2466C>T (p.Ala822=)
|
rs778504471
|
0.00001
|
|
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
|
rs757670205
|
0.00001
|
|
NM_005609.4(PYGM):c.2514G>A (p.Pro838=)
|
rs759671853
|
0.00001
|
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
|
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp)
|
rs370247862
|
0.00001
|
|
NM_005609.4(PYGM):c.285G>A (p.Thr95=)
|
rs1392346032
|
0.00001
|
|
NM_005609.4(PYGM):c.30A>G (p.Lys10=)
|
rs140938550
|
0.00001
|
|
NM_005609.4(PYGM):c.327T>C (p.Cys109=)
|
rs1488873157
|
0.00001
|
|
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
|
rs147571836
|
0.00001
|
|
NM_005609.4(PYGM):c.346-20T>G
|
rs1025560272
|
0.00001
|
|
NM_005609.4(PYGM):c.346C>G (p.Leu116Val)
|
rs759361512
|
0.00001
|
|
NM_005609.4(PYGM):c.352C>T (p.Leu118=)
|
rs770341565
|
0.00001
|
|
NM_005609.4(PYGM):c.389C>T (p.Ala130Val)
|
rs200430286
|
0.00001
|
|
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
|
rs753687960
|
0.00001
|
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
|
NM_005609.4(PYGM):c.489G>A (p.Glu163=)
|
rs767119000
|
0.00001
|
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
|
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
|
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys)
|
rs749507354
|
0.00001
|
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
|
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu)
|
rs773595572
|
0.00001
|
|
NM_005609.4(PYGM):c.618T>A (p.His206Gln)
|
rs371343340
|
0.00001
|
|
NM_005609.4(PYGM):c.657A>G (p.Thr219=)
|
rs754590975
|
0.00001
|
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
|
NM_005609.4(PYGM):c.687G>A (p.Thr229=)
|
rs764624576
|
0.00001
|
|
NM_005609.4(PYGM):c.704G>A (p.Arg235His)
|
rs371247639
|
0.00001
|
|
NM_005609.4(PYGM):c.723C>T (p.Thr241=)
|
rs772848708
|
0.00001
|
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
0.00001
|
|
NM_005609.4(PYGM):c.773-18C>T
|
rs758771932
|
0.00001
|
|
NM_005609.4(PYGM):c.773-6C>T
|
rs1367711630
|
0.00001
|
|
NM_005609.4(PYGM):c.773-7C>T
|
rs1413766441
|
0.00001
|
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
|
NM_005609.4(PYGM):c.84G>A (p.Leu28=)
|
rs752615989
|
0.00001
|
|
NM_005609.4(PYGM):c.856-8G>A
|
rs759072956
|
0.00001
|
|
NM_005609.4(PYGM):c.861C>T (p.Phe287=)
|
rs768833092
|
0.00001
|
|
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)
|
rs374812974
|
0.00001
|
|
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
|
rs778061067
|
0.00001
|
|
NM_005609.4(PYGM):c.963T>C (p.Asp321=)
|
rs772678994
|
0.00001
|
|
NM_005609.4(PYGM):c.975G>A (p.Thr325=)
|
rs747106887
|
0.00001
|
|
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser)
|
rs886048463
|
0.00001
|
|
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)
|
rs773661572
|
0.00001
|
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
|
NM_005670.4(EPM2A):c.322C>T (p.Arg108Cys)
|
rs137852915
|
0.00001
|
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
|
NM_005908.4(MANBA):c.*184A>G
|
rs886058967
|
0.00001
|
|
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu)
|
rs779705524
|
0.00001
|
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
|
NM_005908.4(MANBA):c.1112+9T>C
|
rs528890323
|
0.00001
|
|
NM_005908.4(MANBA):c.1113-3C>T
|
rs919183854
|
0.00001
|
|
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
|
rs369478532
|
0.00001
|
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
|
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr)
|
rs753441236
|
0.00001
|
|
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
|
rs775701916
|
0.00001
|
|
NM_005908.4(MANBA):c.1403A>G (p.His468Arg)
|
rs776769550
|
0.00001
|
|
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln)
|
rs779506935
|
0.00001
|
|
NM_005908.4(MANBA):c.1434del (p.Lys479fs)
|
rs776601022
|
0.00001
|
|
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile)
|
rs561172083
|
0.00001
|
|
NM_005908.4(MANBA):c.1512G>A (p.Thr504=)
|
rs143694332
|
0.00001
|
|
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala)
|
rs778853902
|
0.00001
|
|
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn)
|
rs558710124
|
0.00001
|
|
NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)
|
rs771865668
|
0.00001
|
|
NM_005908.4(MANBA):c.1628G>A (p.Trp543Ter)
|
rs1309076303
|
0.00001
|
|
NM_005908.4(MANBA):c.168C>T (p.Gly56=)
|
rs373360398
|
0.00001
|
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
|
NM_005908.4(MANBA):c.177+4T>C
|
rs755493385
|
0.00001
|
|
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile)
|
rs201866934
|
0.00001
|
|
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys)
|
rs1167564128
|
0.00001
|
|
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met)
|
rs774565122
|
0.00001
|
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
|
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)
|
rs202100945
|
0.00001
|
|
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs)
|
rs1341763493
|
0.00001
|
|
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile)
|
rs1246857426
|
0.00001
|
|
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys)
|
rs536554772
|
0.00001
|
|
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val)
|
rs1409396131
|
0.00001
|
|
NM_005908.4(MANBA):c.279G>A (p.Trp93Ter)
|
rs1035305358
|
0.00001
|
|
NM_005908.4(MANBA):c.375A>G (p.Arg125=)
|
rs771587242
|
0.00001
|
|
NM_005908.4(MANBA):c.420T>C (p.Ile140=)
|
rs1258519531
|
0.00001
|
|
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro)
|
rs768261895
|
0.00001
|
|
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile)
|
rs765795629
|
0.00001
|
|
NM_005908.4(MANBA):c.563_572dup (p.Asp191_Trp192insTer)
|
rs752343321
|
0.00001
|
|
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys)
|
rs756414140
|
0.00001
|
|
NM_005908.4(MANBA):c.649T>C (p.Tyr217His)
|
rs757677635
|
0.00001
|
|
NM_005908.4(MANBA):c.674-9A>G
|
rs753271164
|
0.00001
|
|
NM_005908.4(MANBA):c.690G>A (p.Glu230=)
|
rs147662779
|
0.00001
|
|
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys)
|
rs762976551
|
0.00001
|
|
NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)
|
rs1553948361
|
0.00001
|
|
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln)
|
rs777309946
|
0.00001
|
|
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
|
rs1483686622
|
0.00001
|
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
|
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)
|
rs138808270
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)
|
rs1195818093
|
0.00001
|
|
NM_006488.3(KHK):c.*52C>T
|
rs747976594
|
0.00001
|
|
NM_006488.3(KHK):c.*791G>A
|
rs886055894
|
0.00001
|
|
NM_006488.3(KHK):c.*810A>C
|
rs543665606
|
0.00001
|
|
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)
|
rs746381366
|
0.00001
|
|
NM_006488.3(KHK):c.210-200A>G
|
rs1482514899
|
0.00001
|
|
NM_006488.3(KHK):c.463G>A (p.Ala155Thr)
|
rs776211460
|
0.00001
|
|
NM_006488.3(KHK):c.499C>T (p.Arg167Trp)
|
rs886055887
|
0.00001
|
|
NM_006488.3(KHK):c.818G>A (p.Ser273Asn)
|
rs575951862
|
0.00001
|
|
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)
|
rs201037118
|
0.00001
|
|
NM_006516.2(SLC2A1):c.-272G>A
|
rs886046344
|
0.00001
|
|
NM_006516.4(SLC2A1):c.*107G>A
|
rs1643432524
|
0.00001
|
|
NM_006516.4(SLC2A1):c.*1205C>T
|
rs886046331
|
0.00001
|
|
NM_006516.4(SLC2A1):c.*1321T>A
|
rs1222650517
|
0.00001
|
|
NM_006516.4(SLC2A1):c.*775A>G
|
rs779010320
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1059C>T (p.Ile353=)
|
rs372092107
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=)
|
rs755679518
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1134C>T (p.Phe378=)
|
rs758184335
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1152C>T (p.Gly384=)
|
rs750237005
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
|
NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
|
rs769414573
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1297G>A (p.Val433Ile)
|
rs200819771
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
|
NM_006516.4(SLC2A1):c.1454C>T (p.Pro485Leu)
|
rs1159593580
|
0.00001
|
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
|
NM_006516.4(SLC2A1):c.189G>A (p.Thr63=)
|
rs766043826
|
0.00001
|
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
|
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)
|
rs267607061
|
0.00001
|
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
|
NM_006516.4(SLC2A1):c.318C>T (p.Ser106=)
|
rs760599149
|
0.00001
|
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
|
NM_006516.4(SLC2A1):c.492C>T (p.Ile164=)
|
rs759617721
|
0.00001
|
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
|
NM_006516.4(SLC2A1):c.680-16C>T
|
rs752942175
|
0.00001
|
|
NM_006516.4(SLC2A1):c.696C>T (p.Arg232=)
|
rs770293853
|
0.00001
|
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
|
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)
|
rs1425773776
|
0.00001
|
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
|
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=)
|
rs775408842
|
0.00001
|
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
|
NM_006516.4(SLC2A1):c.957C>A (p.Ala319=)
|
rs1643460439
|
0.00001
|
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
|
NM_006569.6(CGREF1):c.*628A>C
|
rs1276594858
|
0.00001
|
|
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
|
rs1287727763
|
0.00001
|
|
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr)
|
rs549414130
|
0.00001
|
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
|
NM_006721.4(ADK):c.*114T>C
|
rs560409958
|
0.00001
|
|
NM_006721.4(ADK):c.*729T>G
|
rs1307744498
|
0.00001
|
|
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)
|
rs201786575
|
0.00001
|
|
NM_006721.4(ADK):c.66-24009G>T
|
rs886047234
|
0.00001
|
|
NM_006721.4(ADK):c.66-24289G>A
|
rs571962706
|
0.00001
|
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
|
NM_006721.4(ADK):c.763-9T>C
|
rs780824505
|
0.00001
|
|
NM_006755.1(TALDO1):c.-37T>C
|
rs886048655
|
0.00001
|
|
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)
|
rs758756190
|
0.00001
|
|
NM_006755.2(TALDO1):c.402C>T (p.Ile134=)
|
rs886048663
|
0.00001
|
|
NM_006755.2(TALDO1):c.480C>T (p.His160=)
|
rs200500899
|
0.00001
|
|
NM_006755.2(TALDO1):c.48C>T (p.Asp16=)
|
rs886048658
|
0.00001
|
|
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys)
|
rs751425603
|
0.00001
|
|
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys)
|
rs567606097
|
0.00001
|
|
NM_006765.4(TUSC3):c.139-6T>C
|
rs1033112526
|
0.00001
|
|
NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys)
|
rs751785405
|
0.00001
|
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
|
NM_006765.4(TUSC3):c.308+3A>G
|
rs778993933
|
0.00001
|
|
NM_006765.4(TUSC3):c.309-3C>G
|
rs776386983
|
0.00001
|
|
NM_006765.4(TUSC3):c.309-8C>G
|
rs771541606
|
0.00001
|
|
NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)
|
rs778667759
|
0.00001
|
|
NM_006765.4(TUSC3):c.648T>C (p.Tyr216=)
|
rs759856125
|
0.00001
|
|
NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)
|
rs1454870259
|
0.00001
|
|
NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)
|
rs1381176199
|
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_012203.2(GRHPR):c.102G>A (p.Trp34Ter)
|
rs180177304
|
0.00001
|
|
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln)
|
rs760538945
|
0.00001
|
|
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro)
|
rs180177305
|
0.00001
|
|
NM_012203.2(GRHPR):c.214+1G>T
|
rs1244822375
|
0.00001
|
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
|
NM_012203.2(GRHPR):c.454dup (p.Thr152fs)
|
rs771019056
|
0.00001
|
|
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg)
|
rs180177312
|
0.00001
|
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
|
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp)
|
rs180177314
|
0.00001
|
|
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu)
|
rs1823271331
|
0.00001
|
|
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val)
|
rs771231175
|
0.00001
|
|
NM_012203.2(GRHPR):c.636C>T (p.Ile212=)
|
rs548848730
|
0.00001
|
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
|
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly)
|
rs180177318
|
0.00001
|
|
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp)
|
rs796052079
|
0.00001
|
|
NM_012203.2(GRHPR):c.756C>T (p.Asp252=)
|
rs777753552
|
0.00001
|
|
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu)
|
rs770585067
|
0.00001
|
|
NM_012203.2(GRHPR):c.762G>A (p.Leu254=)
|
rs201872828
|
0.00001
|
|
NM_012203.2(GRHPR):c.771C>T (p.Ala257=)
|
rs367671150
|
0.00001
|
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
|
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)
|
rs758049256
|
0.00001
|
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*1206G>A
|
rs1239251189
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*1450G>A
|
rs886061727
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*478C>T
|
rs886061733
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*488G>A
|
rs1216079110
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*587C>T
|
rs1303568875
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*817G>A
|
rs886061731
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*837C>T
|
rs886061730
|
0.00001
|
|
NM_012434.5(SLC17A5):c.*901C>T
|
rs886061729
|
0.00001
|
|
NM_012434.5(SLC17A5):c.-2T>C
|
rs752551425
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter)
|
rs1057516910
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg)
|
rs142972941
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1109_1111+2del
|
rs1767805645
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1111+1G>A
|
rs777862172
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile)
|
rs201724072
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr)
|
rs758772703
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser)
|
rs373162864
|
0.00001
|
|
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His)
|
rs769235753
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn)
|
rs775750187
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1284C>T (p.Ile428=)
|
rs1475561276
|
0.00001
|
|
NM_012434.5(SLC17A5):c.12G>C (p.Pro4=)
|
rs1769990764
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1320G>A (p.Gly440=)
|
rs373258092
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1339C>T (p.Leu447=)
|
rs1303680695
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
|
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly)
|
rs371810705
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1380C>T (p.Phe460=)
|
rs1224327278
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)
|
rs367852327
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1425A>G (p.Thr475=)
|
rs763107462
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1428A>G (p.Leu476=)
|
rs770266444
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1431C>T (p.Phe477=)
|
rs1382310721
|
0.00001
|
|
NM_012434.5(SLC17A5):c.1446A>T (p.Val482=)
|
rs1766733249
|
0.00001
|
|
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val)
|
rs754877029
|
0.00001
|
|
NM_012434.5(SLC17A5):c.264T>G (p.Ala88=)
|
rs777927222
|
0.00001
|
|
NM_012434.5(SLC17A5):c.336C>T (p.Leu112=)
|
rs1367019593
|
0.00001
|
|
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp)
|
rs750771008
|
0.00001
|
|
NM_012434.5(SLC17A5):c.444C>G (p.Val148=)
|
rs754150320
|
0.00001
|
|
NM_012434.5(SLC17A5):c.468T>C (p.Ala156=)
|
rs760346305
|
0.00001
|
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
|
NM_012434.5(SLC17A5):c.519A>C (p.Leu173=)
|
rs377101723
|
0.00001
|
|
NM_012434.5(SLC17A5):c.525+14C>T
|
rs1033538167
|
0.00001
|
|
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly)
|
rs1303660578
|
0.00001
|
|
NM_012434.5(SLC17A5):c.572C>A (p.Pro191His)
|
rs1772993961
|
0.00001
|
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
|
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)
|
rs149233119
|
0.00001
|
|
NM_012434.5(SLC17A5):c.645T>A (p.Pro215=)
|
rs1253015994
|
0.00001
|
|
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met)
|
rs201408081
|
0.00001
|
|
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs)
|
rs1472109408
|
0.00001
|
|
NM_012434.5(SLC17A5):c.700+19C>A
|
rs372789949
|
0.00001
|
|
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile)
|
rs757218186
|
0.00001
|
|
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn)
|
rs767502652
|
0.00001
|
|
NM_012434.5(SLC17A5):c.795_796insTT (p.Ile266fs)
|
rs1768947811
|
0.00001
|
|
NM_012434.5(SLC17A5):c.820-8T>A
|
rs963486778
|
0.00001
|
|
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)
|
rs1347154246
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-13A>G
|
rs1181668892
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-17C>T
|
rs775914101
|
0.00001
|
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
|
NM_014026.6(DCPS):c.201+4C>G
|
rs746334180
|
0.00001
|
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
|
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg)
|
rs760062265
|
0.00001
|
|
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu)
|
rs763555777
|
0.00001
|
|
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp)
|
rs201335495
|
0.00001
|
|
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys)
|
rs1486315197
|
0.00001
|
|
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala)
|
rs145303576
|
0.00001
|
|
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln)
|
rs1041188721
|
0.00001
|
|
NM_014806.5(RUSC2):c.853A>G (p.Ser285Gly)
|
rs1444513149
|
0.00001
|
|
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val)
|
rs779313558
|
0.00001
|
|
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys)
|
rs1880398314
|
0.00001
|
|
NM_015957.4(APIP):c.-1C>T
|
rs774565620
|
0.00001
|
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
|
NM_016042.4(EXOSC3):c.336A>G (p.Val112=)
|
rs1459576809
|
0.00001
|
|
NM_016042.4(EXOSC3):c.405G>T (p.Gly135=)
|
rs1828647334
|
0.00001
|
|
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro)
|
rs387907195
|
0.00001
|
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
|
NM_016042.4(EXOSC3):c.813A>G (p.Arg271=)
|
rs373942170
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1005+11C>T
|
rs776445450
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1020A>G (p.Glu340=)
|
rs770773856
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-12C>A
|
rs957043389
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1071A>T (p.Thr357=)
|
rs397517260
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1106+17T>C
|
rs769793016
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1116T>C (p.Asp372=)
|
rs1359495243
|
0.00001
|
|
NM_016203.4(PRKAG2):c.114+20C>T
|
rs113978561
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
|
NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)
|
rs1220899353
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1191T>C (p.Tyr397=)
|
rs749218393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1200C>T (p.Thr400=)
|
rs779897567
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1233+15G>A
|
rs756832099
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1233+9T>C
|
rs780770792
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1234-7C>T
|
rs1456377814
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1254T>C (p.Pro418=)
|
rs753059650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
|
rs199863116
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1371A>T (p.Ile457=)
|
rs755421350
|
0.00001
|
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1389G>C (p.Val463=)
|
rs754270654
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1400-8A>G
|
rs1488159582
|
0.00001
|
|
NM_016203.4(PRKAG2):c.141C>T (p.Leu47=)
|
rs1244792476
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1422C>T (p.Ser474=)
|
rs1584941245
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-20A>G
|
rs146491414
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1438-5T>C
|
rs190863830
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1440T>C (p.Asn480=)
|
rs397517265
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1479G>A (p.Thr493=)
|
rs367768776
|
0.00001
|
|
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
|
rs1430071393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)
|
rs370899599
|
0.00001
|
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1620T>C (p.Ser540=)
|
rs1196648905
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)
|
rs1335765564
|
0.00001
|
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+12T>C
|
rs374155169
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
|
NM_016203.4(PRKAG2):c.210C>A (p.Gly70=)
|
rs1421160665
|
0.00001
|
|
NM_016203.4(PRKAG2):c.222A>G (p.Lys74=)
|
rs1265668637
|
0.00001
|
|
NM_016203.4(PRKAG2):c.246G>T (p.Gln82His)
|
rs1182448951
|
0.00001
|
|
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)
|
rs754570613
|
0.00001
|
|
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)
|
rs1300640443
|
0.00001
|
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
|
NM_016203.4(PRKAG2):c.331C>A (p.Gln111Lys)
|
rs778331706
|
0.00001
|
|
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
|
rs369471907
|
0.00001
|
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
|
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
|
rs2076651870
|
0.00001
|
|
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)
|
rs768453540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.390C>G (p.Ser130=)
|
rs1400706351
|
0.00001
|
|
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=)
|
rs1057520352
|
0.00001
|
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
|
NM_016203.4(PRKAG2):c.406C>G (p.Pro136Ala)
|
rs1386603764
|
0.00001
|
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
|
NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)
|
rs869025498
|
0.00001
|
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
|
NM_016203.4(PRKAG2):c.42T>A (p.Val14=)
|
rs141316327
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+17A>G
|
rs770673359
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+19T>C
|
rs376621063
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
|
NM_016203.4(PRKAG2):c.466+7C>A
|
rs397517272
|
0.00001
|
|
NM_016203.4(PRKAG2):c.467-15G>A
|
rs139162723
|
0.00001
|
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
|
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
|
rs766578540
|
0.00001
|
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
|
NM_016203.4(PRKAG2):c.522G>A (p.Thr174=)
|
rs558951955
|
0.00001
|
|
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=)
|
rs373000537
|
0.00001
|
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
|
NM_016203.4(PRKAG2):c.546C>T (p.His182=)
|
rs1221506447
|
0.00001
|
|
NM_016203.4(PRKAG2):c.556C>A (p.Arg186=)
|
rs200392688
|
0.00001
|
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
|
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)
|
rs368522976
|
0.00001
|
|
NM_016203.4(PRKAG2):c.570C>T (p.Arg190=)
|
rs141191531
|
0.00001
|
|
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=)
|
rs756215060
|
0.00001
|
|
NM_016203.4(PRKAG2):c.585T>A (p.Ser195=)
|
rs781522393
|
0.00001
|
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
|
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser)
|
rs753859556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg)
|
rs1585679990
|
0.00001
|
|
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn)
|
rs768909087
|
0.00001
|
|
NM_016203.4(PRKAG2):c.636G>A (p.Pro212=)
|
rs149820808
|
0.00001
|
|
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)
|
rs730880987
|
0.00001
|
|
NM_016203.4(PRKAG2):c.648A>G (p.Pro216=)
|
rs751742816
|
0.00001
|
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
|
NM_016203.4(PRKAG2):c.660G>A (p.Pro220=)
|
rs774279454
|
0.00001
|
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
|
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)
|
rs780864954
|
0.00001
|
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-12C>T
|
rs1824697718
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-1G>A
|
rs1824685527
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-3C>T
|
rs1057520353
|
0.00001
|
|
NM_016203.4(PRKAG2):c.685-7C>A
|
rs397517278
|
0.00001
|
|
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg)
|
rs1280299073
|
0.00001
|
|
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
|
rs745772277
|
0.00001
|
|
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)
|
rs1476121151
|
0.00001
|
|
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
|
rs1184637689
|
0.00001
|
|
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)
|
rs777165701
|
0.00001
|
|
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)
|
rs397517281
|
0.00001
|
|
NM_016203.4(PRKAG2):c.754+14G>T
|
rs1554507743
|
0.00001
|
|
NM_016203.4(PRKAG2):c.755-13T>G
|
rs1219696291
|
0.00001
|
|
NM_016203.4(PRKAG2):c.755-1G>A
|
rs778614872
|
0.00001
|
|
NM_016203.4(PRKAG2):c.774T>C (p.Ser258=)
|
rs1458710152
|
0.00001
|
|
NM_016203.4(PRKAG2):c.804C>T (p.His268=)
|
rs1814239943
|
0.00001
|
|
NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)
|
rs917493455
|
0.00001
|
|
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)
|
rs730880975
|
0.00001
|
|
NM_016203.4(PRKAG2):c.88A>C (p.Arg30=)
|
rs756923555
|
0.00001
|
|
NM_016203.4(PRKAG2):c.897C>T (p.Asn299=)
|
rs201876556
|
0.00001
|
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
|
NM_016203.4(PRKAG2):c.946+19A>G
|
rs745525434
|
0.00001
|
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
|
NM_016203.4(PRKAG2):c.99G>A (p.Leu33=)
|
rs1039938289
|
0.00001
|
|
NM_016219.5(MAN1B1):c.*389C>G
|
rs1489403973
|
0.00001
|
|
NM_016219.5(MAN1B1):c.*404T>C
|
rs759863657
|
0.00001
|
|
NM_016219.5(MAN1B1):c.*587C>G
|
rs946716926
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His)
|
rs1476136894
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr)
|
rs184782012
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp)
|
rs1037141680
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)
|
rs751469511
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr)
|
rs764475116
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val)
|
rs770987752
|
0.00001
|
|
NM_016219.5(MAN1B1):c.172G>T (p.Glu58Ter)
|
rs753503405
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1765-20G>C
|
rs1225685090
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg)
|
rs776114448
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1897-10T>C
|
rs1831193942
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)
|
rs777270726
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=)
|
rs771302082
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)
|
rs1164484724
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)
|
rs756140103
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=)
|
rs747239978
|
0.00001
|
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
|
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val)
|
rs963979748
|
0.00001
|
|
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe)
|
rs776658507
|
0.00001
|
|
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala)
|
rs763520482
|
0.00001
|
|
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)
|
rs763744643
|
0.00001
|
|
NM_016219.5(MAN1B1):c.466-12A>G
|
rs760066464
|
0.00001
|
|
NM_016219.5(MAN1B1):c.484C>T (p.Gln162Ter)
|
rs1207589187
|
0.00001
|
|
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn)
|
rs534967836
|
0.00001
|
|
NM_016219.5(MAN1B1):c.621-4G>A
|
rs747603982
|
0.00001
|
|
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=)
|
rs1430903884
|
0.00001
|
|
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=)
|
rs1342800552
|
0.00001
|
|
NM_016219.5(MAN1B1):c.731-9C>G
|
rs762958294
|
0.00001
|
|
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=)
|
rs151136979
|
0.00001
|
|
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)
|
rs573766677
|
0.00001
|
|
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=)
|
rs1830758562
|
0.00001
|
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
|
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)
|
rs777884272
|
0.00001
|
|
NM_016302.4(CRBN):c.1255C>T (p.Arg419Ter)
|
rs121918368
|
0.00001
|
|
NM_016302.4(CRBN):c.433C>T (p.Arg145Ter)
|
rs1302797003
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn)
|
rs1180111779
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)
|
rs529368098
|
0.00001
|
|
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser)
|
rs746894472
|
0.00001
|
|
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)
|
rs1194702277
|
0.00001
|
|
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)
|
rs779620838
|
0.00001
|
|
NM_017721.5(CC2D1A):c.511_513+1del
|
rs777057767
|
0.00001
|
|
NM_017755.6(NSUN2):c.*85G>A
|
rs1429279900
|
0.00001
|
|
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg)
|
rs375923267
|
0.00001
|
|
NM_017755.6(NSUN2):c.2035G>A (p.Gly679Arg)
|
rs587776908
|
0.00001
|
|
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter)
|
rs886060728
|
0.00001
|
|
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly)
|
rs373663619
|
0.00001
|
|
NM_018217.3(EDEM2):c.1271G>A (p.Arg424His)
|
rs996131573
|
0.00001
|
|
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg)
|
rs1414536488
|
0.00001
|
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
|
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)
|
rs1389450136
|
0.00001
|
|
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)
|
rs146140738
|
0.00001
|
|
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
|
rs752256415
|
0.00001
|
|
NM_018297.4(NGLY1):c.801T>C (p.Ser267=)
|
rs199578758
|
0.00001
|
|
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe)
|
rs776610158
|
0.00001
|
|
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr)
|
rs1298917573
|
0.00001
|
|
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg)
|
rs1458799973
|
0.00001
|
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
|
NM_020897.3(HCN3):c.*1330G>T
|
rs886045348
|
0.00001
|
|
NM_020897.3(HCN3):c.*832C>T
|
rs917244300
|
0.00001
|
|
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)
|
rs560817419
|
0.00001
|
|
NM_021957.4(GYS2):c.*408A>G
|
rs1180052815
|
0.00001
|
|
NM_021957.4(GYS2):c.*520A>G
|
rs886049153
|
0.00001
|
|
NM_021957.4(GYS2):c.-109G>A
|
rs1424660561
|
0.00001
|
|
NM_021957.4(GYS2):c.1081del (p.Thr361fs)
|
rs771205749
|
0.00001
|
|
NM_021957.4(GYS2):c.1111A>G (p.Lys371Glu)
|
rs1489497076
|
0.00001
|
|
NM_021957.4(GYS2):c.1229+1G>A
|
rs764539267
|
0.00001
|
|
NM_021957.4(GYS2):c.1229+6T>C
|
rs775446055
|
0.00001
|
|
NM_021957.4(GYS2):c.1230-1G>A
|
rs766733439
|
0.00001
|
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
|
NM_021957.4(GYS2):c.1318T>C (p.Leu440=)
|
rs371025503
|
0.00001
|
|
NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn)
|
rs759192462
|
0.00001
|
|
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
|
rs776104371
|
0.00001
|
|
NM_021957.4(GYS2):c.1405C>T (p.Arg469Cys)
|
rs765248902
|
0.00001
|
|
NM_021957.4(GYS2):c.1423-1G>A
|
rs202043849
|
0.00001
|
|
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr)
|
rs886049162
|
0.00001
|
|
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
|
rs751455210
|
0.00001
|
|
NM_021957.4(GYS2):c.1866T>C (p.His622=)
|
rs975935766
|
0.00001
|
|
NM_021957.4(GYS2):c.1974dup (p.Val659fs)
|
rs1181756742
|
0.00001
|
|
NM_021957.4(GYS2):c.257A>G (p.Asp86Gly)
|
rs1944495395
|
0.00001
|
|
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
|
rs376712209
|
0.00001
|
|
NM_021957.4(GYS2):c.457del (p.Met152_Leu153insTer)
|
rs1307281520
|
0.00001
|
|
NM_021957.4(GYS2):c.534A>G (p.Gln178=)
|
rs750100480
|
0.00001
|
|
NM_021957.4(GYS2):c.612C>A (p.Thr204=)
|
rs758427436
|
0.00001
|
|
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
|
rs1169286490
|
0.00001
|
|
NM_021957.4(GYS2):c.841G>A (p.Gly281Ser)
|
rs767722149
|
0.00001
|
|
NM_021957.4(GYS2):c.925C>T (p.Arg309Ter)
|
rs267603422
|
0.00001
|
|
NM_021957.4(GYS2):c.941+16T>A
|
rs993240101
|
0.00001
|
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
|
NM_021957.4(GYS2):c.948C>T (p.Leu316=)
|
rs374841625
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*1043C>T
|
rs375799555
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
|
NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met)
|
rs387907484
|
0.00001
|
|
NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter)
|
rs941971930
|
0.00001
|
|
NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter)
|
rs1162410484
|
0.00001
|
|
NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs)
|
rs758100654
|
0.00001
|
|
NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup)
|
rs778682733
|
0.00001
|
|
NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr)
|
rs760075470
|
0.00001
|
|
NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser)
|
rs387907486
|
0.00001
|
|
NM_022895.3(C12orf43):c.*1871A>G
|
rs1045819255
|
0.00001
|
|
NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser)
|
rs761791932
|
0.00001
|
|
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met)
|
rs139499369
|
0.00001
|
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
|
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln)
|
rs772949764
|
0.00001
|
|
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)
|
rs752507663
|
0.00001
|
|
NM_024989.4(PGAP1):c.1090-4G>A
|
rs745651606
|
0.00001
|
|
NM_024989.4(PGAP1):c.1209C>T (p.Ser403=)
|
rs1020678750
|
0.00001
|
|
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)
|
rs1291611574
|
0.00001
|
|
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)
|
rs780043187
|
0.00001
|
|
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)
|
rs143038880
|
0.00001
|
|
NM_024989.4(PGAP1):c.148-18A>G
|
rs767260257
|
0.00001
|
|
NM_024989.4(PGAP1):c.1663C>T (p.Gln555Ter)
|
rs755341613
|
0.00001
|
|
NM_024989.4(PGAP1):c.1952+1G>C
|
rs587777202
|
0.00001
|
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
|
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)
|
rs776817075
|
0.00001
|
|
NM_024989.4(PGAP1):c.2286+1G>A
|
rs1406991265
|
0.00001
|
|
NM_024989.4(PGAP1):c.2313A>G (p.Thr771=)
|
rs765668457
|
0.00001
|
|
NM_024989.4(PGAP1):c.2338-13T>C
|
rs779092825
|
0.00001
|
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
|
NM_024989.4(PGAP1):c.2388C>T (p.Asp796=)
|
rs768328398
|
0.00001
|
|
NM_024989.4(PGAP1):c.2525+5G>A
|
rs759133146
|
0.00001
|
|
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)
|
rs765007097
|
0.00001
|
|
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)
|
rs776985592
|
0.00001
|
|
NM_024989.4(PGAP1):c.2655A>G (p.Gln885=)
|
rs778039608
|
0.00001
|
|
NM_024989.4(PGAP1):c.301+15A>C
|
rs926876742
|
0.00001
|
|
NM_024989.4(PGAP1):c.39T>C (p.Phe13=)
|
rs1322336391
|
0.00001
|
|
NM_024989.4(PGAP1):c.478-3T>C
|
rs773139555
|
0.00001
|
|
NM_024989.4(PGAP1):c.585T>C (p.Asn195=)
|
rs1038323136
|
0.00001
|
|
NM_024989.4(PGAP1):c.695A>G (p.His232Arg)
|
rs749729836
|
0.00001
|
|
NM_024989.4(PGAP1):c.849C>G (p.Leu283=)
|
rs868315664
|
0.00001
|
|
NM_024989.4(PGAP1):c.927+17T>C
|
rs1429743943
|
0.00001
|
|
NM_024989.4(PGAP1):c.927+1G>A
|
rs750079325
|
0.00001
|
|
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp)
|
rs748142645
|
0.00001
|
|
NM_030805.4(LMAN2L):c.187+4A>C
|
rs2078596924
|
0.00001
|
|
NM_030805.4(LMAN2L):c.785-273A>G
|
rs1469575298
|
0.00001
|
|
NM_031229.4(RBCK1):c.1030-11T>C
|
rs1347263782
|
0.00001
|
|
NM_031229.4(RBCK1):c.1054C>T (p.Arg352Ter)
|
rs780854072
|
0.00001
|
|
NM_031229.4(RBCK1):c.1068G>T (p.Leu356=)
|
rs1244813118
|
0.00001
|
|
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
|
rs562488006
|
0.00001
|
|
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln)
|
rs773934109
|
0.00001
|
|
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser)
|
rs566912235
|
0.00001
|
|
NM_031229.4(RBCK1):c.1209+17C>T
|
rs2016795068
|
0.00001
|
|
NM_031229.4(RBCK1):c.1209+2_1209+3insA
|
rs774461310
|
0.00001
|
|
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp)
|
rs771360977
|
0.00001
|
|
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
|
rs776994199
|
0.00001
|
|
NM_031229.4(RBCK1):c.1272C>T (p.Asn424=)
|
rs370138905
|
0.00001
|
|
NM_031229.4(RBCK1):c.1308+3G>A
|
rs757924227
|
0.00001
|
|
NM_031229.4(RBCK1):c.1309-18G>C
|
rs1031466010
|
0.00001
|
|
NM_031229.4(RBCK1):c.1326C>T (p.Gly442=)
|
rs1437187965
|
0.00001
|
|
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
|
rs1201022654
|
0.00001
|
|
NM_031229.4(RBCK1):c.1395C>T (p.Cys465=)
|
rs762116740
|
0.00001
|
|
NM_031229.4(RBCK1):c.1410C>T (p.Thr470=)
|
rs369912362
|
0.00001
|
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
|
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys)
|
rs1436848446
|
0.00001
|
|
NM_031229.4(RBCK1):c.1452+14C>T
|
rs1465505607
|
0.00001
|
|
NM_031229.4(RBCK1):c.1452+15G>A
|
rs569310074
|
0.00001
|
|
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=)
|
rs780470011
|
0.00001
|
|
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
|
rs770973545
|
0.00001
|
|
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
|
rs755353013
|
0.00001
|
|
NM_031229.4(RBCK1):c.171G>A (p.Leu57=)
|
rs539510245
|
0.00001
|
|
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala)
|
rs779621384
|
0.00001
|
|
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)
|
rs753472058
|
0.00001
|
|
NM_031229.4(RBCK1):c.21A>G (p.Lys7=)
|
rs1288403973
|
0.00001
|
|
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val)
|
rs544518686
|
0.00001
|
|
NM_031229.4(RBCK1):c.300G>C (p.Gln100His)
|
rs752266924
|
0.00001
|
|
NM_031229.4(RBCK1):c.333G>A (p.Gln111=)
|
rs758405216
|
0.00001
|
|
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys)
|
rs146325218
|
0.00001
|
|
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp)
|
rs751068368
|
0.00001
|
|
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
|
rs748158080
|
0.00001
|
|
NM_031229.4(RBCK1):c.477C>T (p.Asp159=)
|
rs1301599917
|
0.00001
|
|
NM_031229.4(RBCK1):c.542C>A (p.Pro181His)
|
rs952034182
|
0.00001
|
|
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu)
|
rs1165538930
|
0.00001
|
|
NM_031229.4(RBCK1):c.603G>A (p.Gly201=)
|
rs1206906907
|
0.00001
|
|
NM_031229.4(RBCK1):c.609C>T (p.Thr203=)
|
rs2016242054
|
0.00001
|
|
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln)
|
rs764357407
|
0.00001
|
|
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp)
|
rs754967314
|
0.00001
|
|
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr)
|
rs752666659
|
0.00001
|
|
NM_031229.4(RBCK1):c.697_703dup (p.Glu235fs)
|
rs730880330
|
0.00001
|
|
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly)
|
rs762315366
|
0.00001
|
|
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro)
|
rs770302308
|
0.00001
|
|
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)
|
rs773247812
|
0.00001
|
|
NM_031229.4(RBCK1):c.743G>A (p.Arg248His)
|
rs1385885540
|
0.00001
|
|
NM_031229.4(RBCK1):c.757-6G>T
|
rs1391498500
|
0.00001
|
|
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg)
|
rs1055669487
|
0.00001
|
|
NM_031229.4(RBCK1):c.82A>G (p.Met28Val)
|
rs909682858
|
0.00001
|
|
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr)
|
rs367600993
|
0.00001
|
|
NM_031229.4(RBCK1):c.876C>T (p.Gly292=)
|
rs767353266
|
0.00001
|
|
NM_031229.4(RBCK1):c.906C>T (p.His302=)
|
rs1273262609
|
0.00001
|
|
NM_031229.4(RBCK1):c.916A>C (p.Arg306=)
|
rs1438078445
|
0.00001
|
|
NM_031229.4(RBCK1):c.917+19C>T
|
rs1473845806
|
0.00001
|
|
NM_031229.4(RBCK1):c.987C>G (p.Thr329=)
|
rs778332884
|
0.00001
|
|
NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr)
|
rs367728067
|
0.00001
|
|
NM_032808.7(LINGO1):c.863A>G (p.Tyr288Cys)
|
rs750612085
|
0.00001
|
|
NM_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
|
NM_033159.4(HYAL1):c.-5G>A
|
rs368638384
|
0.00001
|
|
NM_033159.4(HYAL1):c.1044C>T (p.Ile348=)
|
rs372595265
|
0.00001
|
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
|
NM_033159.4(HYAL1):c.1092C>T (p.Ser364=)
|
rs782610786
|
0.00001
|
|
NM_033159.4(HYAL1):c.1098T>C (p.His366=)
|
rs1702096627
|
0.00001
|
|
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
|
rs587595632
|
0.00001
|
|
NM_033159.4(HYAL1):c.1128C>T (p.Pro376=)
|
rs781894836
|
0.00001
|
|
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)
|
rs782298295
|
0.00001
|
|
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
|
rs782616691
|
0.00001
|
|
NM_033159.4(HYAL1):c.12C>T (p.His4=)
|
rs202199091
|
0.00001
|
|
NM_033159.4(HYAL1):c.159C>T (p.Val53=)
|
rs1428586805
|
0.00001
|
|
NM_033159.4(HYAL1):c.189G>A (p.Gly63=)
|
rs1553713387
|
0.00001
|
|
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
|
rs782491043
|
0.00001
|
|
NM_033159.4(HYAL1):c.204C>T (p.Gly68=)
|
rs375395138
|
0.00001
|
|
NM_033159.4(HYAL1):c.222C>T (p.Phe74=)
|
rs1559820613
|
0.00001
|
|
NM_033159.4(HYAL1):c.252C>T (p.Tyr84=)
|
rs782128403
|
0.00001
|
|
NM_033159.4(HYAL1):c.27C>T (p.Cys9=)
|
rs781916060
|
0.00001
|
|
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr)
|
rs782713825
|
0.00001
|
|
NM_033159.4(HYAL1):c.327A>G (p.Thr109=)
|
rs1553713301
|
0.00001
|
|
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser)
|
rs587647302
|
0.00001
|
|
NM_033159.4(HYAL1):c.408C>T (p.Arg136=)
|
rs782343934
|
0.00001
|
|
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu)
|
rs1473371417
|
0.00001
|
|
NM_033159.4(HYAL1):c.48C>T (p.Leu16=)
|
rs377440947
|
0.00001
|
|
NM_033159.4(HYAL1):c.498G>A (p.Gln166=)
|
rs200077067
|
0.00001
|
|
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln)
|
rs782751421
|
0.00001
|
|
NM_033159.4(HYAL1):c.543C>T (p.Ala181=)
|
rs782012779
|
0.00001
|
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
|
NM_033159.4(HYAL1):c.654C>T (p.Thr218=)
|
rs782051318
|
0.00001
|
|
NM_033159.4(HYAL1):c.663C>T (p.Cys221=)
|
rs374889084
|
0.00001
|
|
NM_033159.4(HYAL1):c.694C>T (p.Leu232=)
|
rs1553713126
|
0.00001
|
|
NM_033159.4(HYAL1):c.699G>A (p.Gly233=)
|
rs200718831
|
0.00001
|
|
NM_033159.4(HYAL1):c.69G>A (p.Arg23=)
|
rs1553713459
|
0.00001
|
|
NM_033159.4(HYAL1):c.726C>G (p.Leu242=)
|
rs781796869
|
0.00001
|
|
NM_033159.4(HYAL1):c.738C>T (p.Ile246=)
|
rs1391982334
|
0.00001
|
|
NM_033159.4(HYAL1):c.773C>G (p.Ser258Ter)
|
rs782355058
|
0.00001
|
|
NM_033159.4(HYAL1):c.787C>T (p.Gln263Ter)
|
rs782240278
|
0.00001
|
|
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)
|
rs782299729
|
0.00001
|
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
|
NM_033159.4(HYAL1):c.84C>T (p.Pro28=)
|
rs782588575
|
0.00001
|
|
NM_033159.4(HYAL1):c.873T>C (p.Tyr291=)
|
rs1239417242
|
0.00001
|
|
NM_033159.4(HYAL1):c.879G>A (p.Thr293=)
|
rs1553713033
|
0.00001
|
|
NM_033159.4(HYAL1):c.901-8C>A
|
rs1402365646
|
0.00001
|
|
NM_033159.4(HYAL1):c.909G>A (p.Leu303=)
|
rs1354541662
|
0.00001
|
|
NM_033159.4(HYAL1):c.933G>A (p.Ala311=)
|
rs200373793
|
0.00001
|
|
NM_033159.4(HYAL1):c.952G>A (p.Val318Met)
|
rs1553712745
|
0.00001
|
|
NM_033159.4(HYAL1):c.991-8C>G
|
rs781831071
|
0.00001
|
|
NM_053013.4(ENO3):c.1046C>T (p.Ser349Leu)
|
rs777965106
|
0.00001
|
|
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln)
|
rs1322216100
|
0.00001
|
|
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys)
|
rs534374372
|
0.00001
|
|
NM_053013.4(ENO3):c.159C>A (p.Asp53Glu)
|
rs746259097
|
0.00001
|
|
NM_053013.4(ENO3):c.182G>A (p.Gly61Glu)
|
rs1971599259
|
0.00001
|
|
NM_053013.4(ENO3):c.241-11C>T
|
rs769465776
|
0.00001
|
|
NM_053013.4(ENO3):c.340G>A (p.Val114Met)
|
rs761323443
|
0.00001
|
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
|
NM_053013.4(ENO3):c.403G>A (p.Ala135Thr)
|
rs747456400
|
0.00001
|
|
NM_053013.4(ENO3):c.444+17G>A
|
rs757072121
|
0.00001
|
|
NM_053013.4(ENO3):c.444+9A>G
|
rs567523833
|
0.00001
|
|
NM_053013.4(ENO3):c.493A>G (p.Met165Val)
|
rs781694580
|
0.00001
|
|
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)
|
rs772218199
|
0.00001
|
|
NM_053013.4(ENO3):c.66G>A (p.Val22=)
|
rs373571348
|
0.00001
|
|
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg)
|
rs764872268
|
0.00001
|
|
NM_053013.4(ENO3):c.724A>T (p.Ile242Phe)
|
rs1368067716
|
0.00001
|
|
NM_053013.4(ENO3):c.736G>A (p.Val246Met)
|
rs756256626
|
0.00001
|
|
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg)
|
rs886053166
|
0.00001
|
|
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr)
|
rs766310955
|
0.00001
|
|
NM_053013.4(ENO3):c.866T>C (p.Val289Ala)
|
rs780704553
|
0.00001
|
|
NM_053013.4(ENO3):c.908C>T (p.Thr303Ile)
|
rs772062073
|
0.00001
|
|
NM_080749.4(NEURL2):c.-101G>C
|
rs558829056
|
0.00001
|
|
NM_080749.4(NEURL2):c.-98del
|
rs886056711
|
0.00001
|
|
NM_138413.4(HOGA1):c.-224G>A
|
rs1176162564
|
0.00001
|
|
NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter)
|
rs746419489
|
0.00001
|
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
|
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala)
|
rs1380918472
|
0.00001
|
|
NM_138413.4(HOGA1):c.209G>C (p.Arg70Pro)
|
rs267606763
|
0.00001
|
|
NM_138413.4(HOGA1):c.212-6T>C
|
rs372066473
|
0.00001
|
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
|
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
|
rs772441887
|
0.00001
|
|
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr)
|
rs1167209340
|
0.00001
|
|
NM_138413.4(HOGA1):c.290G>A (p.Arg97His)
|
rs752252343
|
0.00001
|
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
|
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln)
|
rs892512382
|
0.00001
|
|
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)
|
rs778696295
|
0.00001
|
|
NM_138413.4(HOGA1):c.341-1G>A
|
rs1554874130
|
0.00001
|
|
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val)
|
rs374367160
|
0.00001
|
|
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=)
|
rs749899995
|
0.00001
|
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
|
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr)
|
rs748335042
|
0.00001
|
|
NM_138413.4(HOGA1):c.834+1G>T
|
rs749315029
|
0.00001
|
|
NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile)
|
rs756489804
|
0.00001
|
|
NM_138413.4(HOGA1):c.933C>T (p.Pro311=)
|
rs561984280
|
0.00001
|
|
NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser)
|
rs777046879
|
0.00001
|
|
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)
|
rs745922825
|
0.00001
|
|
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)
|
rs1565312540
|
0.00001
|
|
NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)
|
rs763543231
|
0.00001
|
|
NM_138801.3(GALM):c.661_663del (p.Ala221del)
|
rs1666556107
|
0.00001
|
|
NM_138801.3(GALM):c.932G>A (p.Trp311Ter)
|
rs767153310
|
0.00001
|
|
NM_144563.3(RPIA):c.*728T>C
|
rs1006392866
|
0.00001
|
|
NM_144563.3(RPIA):c.404C>T (p.Ala135Val)
|
rs121918591
|
0.00001
|
|
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)
|
rs773038072
|
0.00001
|
|
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)
|
rs756750653
|
0.00001
|
|
NM_144563.3(RPIA):c.596+3A>G
|
rs373335890
|
0.00001
|
|
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)
|
rs559380161
|
0.00001
|
|
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)
|
rs201938367
|
0.00001
|
|
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)
|
rs758859772
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*160C>T
|
rs886062955
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*1841G>A
|
rs886062962
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*2305A>G
|
rs886062963
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*2756G>A
|
rs564747354
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*2801C>G
|
rs886062964
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*2967C>T
|
rs549454910
|
0.00001
|
|
NM_152419.3(HGSNAT):c.*3241A>G
|
rs886062966
|
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.493+809T>C
|
rs1042066401
|
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+3A>G
|
rs753027018
|
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_153747.2(PIGC):c.574C>T (p.Arg192Cys)
|
rs768479943
|
0.00001
|
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
|
NM_175914.5(HNF4A):c.*2511A>G
|
rs1277613130
|
0.00001
|
|
NM_175914.5(HNF4A):c.*2558T>C
|
rs886056688
|
0.00001
|
|
NM_175914.5(HNF4A):c.*2639T>G
|
rs886056690
|
0.00001
|
|
NM_175914.5(HNF4A):c.*3120T>C
|
rs886056704
|
0.00001
|
|
NM_175914.5(HNF4A):c.*765G>A
|
rs886056681
|
0.00001
|
|
NM_175914.5(HNF4A):c.*782G>A
|
rs886056682
|
0.00001
|
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
|
NM_175914.5(HNF4A):c.1069C>G (p.Pro357Ala)
|
rs201319115
|
0.00001
|
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
|
NM_175914.5(HNF4A):c.1198C>T (p.Arg400Ter)
|
rs1413742263
|
0.00001
|
|
NM_175914.5(HNF4A):c.123C>T (p.Cys41=)
|
rs147552575
|
0.00001
|
|
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)
|
rs150776703
|
0.00001
|
|
NM_175914.5(HNF4A):c.1302C>T (p.Ile434=)
|
rs199884828
|
0.00001
|
|
NM_175914.5(HNF4A):c.196G>A (p.Val66Met)
|
rs369182343
|
0.00001
|
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
|
NM_175914.5(HNF4A):c.369G>A (p.Glu123=)
|
rs772959288
|
0.00001
|
|
NM_175914.5(HNF4A):c.454G>A (p.Gly152Ser)
|
rs760038979
|
0.00001
|
|
NM_175914.5(HNF4A):c.457G>A (p.Asp153Asn)
|
rs1427687409
|
0.00001
|
|
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)
|
rs779555087
|
0.00001
|
|
NM_175914.5(HNF4A):c.489A>G (p.Ala163=)
|
rs1568731613
|
0.00001
|
|
NM_175914.5(HNF4A):c.49+13G>A
|
rs759324522
|
0.00001
|
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
|
NM_175914.5(HNF4A):c.582+4A>G
|
rs376287515
|
0.00001
|
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
|
NM_175914.5(HNF4A):c.625G>A (p.Gly209Arg)
|
rs1469544671
|
0.00001
|
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
|
NM_175914.5(HNF4A):c.723G>C (p.Arg241=)
|
rs372639360
|
0.00001
|
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
|
NM_175914.5(HNF4A):c.81C>T (p.Asn27=)
|
rs570058788
|
0.00001
|
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
|
NM_175914.5(HNF4A):c.901A>G (p.Ile301Val)
|
rs920346355
|
0.00001
|
|
NM_175914.5(HNF4A):c.906C>T (p.Asn302=)
|
rs186151007
|
0.00001
|
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
|
NM_175914.5(HNF4A):c.926G>A (p.Arg309His)
|
rs369429452
|
0.00001
|
|
NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)
|
rs2036459233
|
0.00001
|
|
NM_198586.3(NHLRC1):c.*537T>C
|
rs935643502
|
0.00001
|
|
NM_198586.3(NHLRC1):c.*61C>A
|
rs886061252
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)
|
rs1388505858
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)
|
rs377395116
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)
|
rs1440601226
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1065G>A (p.Pro355=)
|
rs752799460
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
|
rs778364234
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1137G>T (p.Val379=)
|
rs1179677260
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
|
rs541460675
|
0.00001
|
|
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)
|
rs562100142
|
0.00001
|
|
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)
|
rs769144119
|
0.00001
|
|
NM_198586.3(NHLRC1):c.207A>G (p.Pro69=)
|
rs778080945
|
0.00001
|
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
|
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg)
|
rs1174745955
|
0.00001
|
|
NM_198586.3(NHLRC1):c.24C>T (p.Ser8=)
|
rs763202331
|
0.00001
|
|
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg)
|
rs371218834
|
0.00001
|
|
NM_198586.3(NHLRC1):c.285A>G (p.Ser95=)
|
rs1057521817
|
0.00001
|
|
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)
|
rs568131096
|
0.00001
|
|
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser)
|
rs909097062
|
0.00001
|
|
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser)
|
rs1467326281
|
0.00001
|
|
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn)
|
rs1085307861
|
0.00001
|
|
NM_198586.3(NHLRC1):c.386C>A (p.Pro129His)
|
rs750465793
|
0.00001
|
|
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn)
|
rs1294825458
|
0.00001
|
|
NM_198586.3(NHLRC1):c.393A>C (p.Gly131=)
|
rs1280323559
|
0.00001
|
|
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
|
rs1783749311
|
0.00001
|
|
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)
|
rs148035405
|
0.00001
|
|
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)
|
rs1233490914
|
0.00001
|
|
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
|
rs368134036
|
0.00001
|
|
NM_198586.3(NHLRC1):c.504G>T (p.Gly168=)
|
rs529490452
|
0.00001
|
|
NM_198586.3(NHLRC1):c.528C>T (p.Tyr176=)
|
rs1403101337
|
0.00001
|
|
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln)
|
rs771805307
|
0.00001
|
|
NM_198586.3(NHLRC1):c.582C>T (p.Gly194=)
|
rs1258101648
|
0.00001
|
|
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
|
rs367649330
|
0.00001
|
|
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala)
|
rs746239356
|
0.00001
|
|
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)
|
rs963295265
|
0.00001
|
|
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu)
|
rs201058506
|
0.00001
|
|
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)
|
rs1449381352
|
0.00001
|
|
NM_198586.3(NHLRC1):c.663G>A (p.Val221=)
|
rs374108909
|
0.00001
|
|
NM_198586.3(NHLRC1):c.690G>A (p.Val230=)
|
rs1245001963
|
0.00001
|
|
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys)
|
rs747276703
|
0.00001
|
|
NM_198586.3(NHLRC1):c.720C>T (p.His240=)
|
rs1161999387
|
0.00001
|
|
NM_198586.3(NHLRC1):c.729C>T (p.Asp243=)
|
rs146420615
|
0.00001
|
|
NM_198586.3(NHLRC1):c.741G>A (p.Ala247=)
|
rs571973789
|
0.00001
|
|
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
|
rs371072212
|
0.00001
|
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
|
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg)
|
rs377025668
|
0.00001
|
|
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)
|
rs879745047
|
0.00001
|
|
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
|
rs749287999
|
0.00001
|
|
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)
|
rs796052756
|
0.00001
|
|
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
|
rs755474952
|
0.00001
|
|
NM_198586.3(NHLRC1):c.819C>T (p.Thr273=)
|
rs1220104886
|
0.00001
|
|
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val)
|
rs1281512045
|
0.00001
|
|
NM_198586.3(NHLRC1):c.843C>T (p.His281=)
|
rs762001530
|
0.00001
|
|
NM_198586.3(NHLRC1):c.882G>T (p.Val294=)
|
rs1314207581
|
0.00001
|
|
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
|
rs752220824
|
0.00001
|
|
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)
|
rs776454075
|
0.00001
|
|
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr)
|
rs1235291781
|
0.00001
|
|
NM_213606.4(SLC16A12):c.305-9T>C
|
rs749441853
|
0.00001
|
|
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)
|
rs758404955
|
0.00001
|
|
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe)
|
rs773706712
|
0.00001
|
|
AGL, EcoRI FRAGMENT INS
|
|
|
|
G6PD A-
|
|
|
|
G6PD Amsterdam
|
rs2070404412
|
|
|
G6PD NARA
|
rs587776730
|
|
|
G6PD VARNSDORF
|
rs2070350009
|
|
|
G6PD ZURICH
|
rs2070350038
|
|
|
GCK:c.864-159_864-149del
|
rs386134235
|
|
|
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
|
|
|
|
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
|
|
|
|
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
|
|
|
|
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
|
|
|
|
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
|
|
|
|
GRCh37/hg19 5q14.1(chr5:78111022-78111871)
|
|
|
|
GRCh37/hg19 6p21.33(chr6:31824828-31834398)
|
|
|
|
GRCh37/hg19 8q24.3(chr8:140852548-140953922)
|
|
|
|
GRCh37/hg19 9q22.32(chr9:97401423-97401592)
|
|
|
|
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
|
|
|
|
GRCh37/hg19 Xq13.2(chrX:71801020-71804146)
|
|
|
|
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
|
|
|
|
GRCh38/hg38 9q31.1(chr9:101426458-101431155)x0
|
|
|
|
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
|
|
|
|
GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1
|
|
|
|
GRIK2, DEL/INV, EX7-11
|
|
|
|
HNF1B, 1-BP DEL
|
|
|
|
HNF1B, EX5DUP
|
|
|
|
HNF4A deletion
|
|
|
|
HNF4A, 1-BP DEL, PHE75T
|
|
|
|
Multiple alleles
|
|
|
|
NC000009.12:g.(34646588_34655077)del
|
|
|
|
NC_000001.10:g.(?_100314640)_(100390579_?)dup
|
|
|
|
NC_000001.10:g.(?_100316579)_(100387227_?)dup
|
|
|
|
NC_000001.10:g.(?_100316599)_(100316700_?)del
|
|
|
|
NC_000001.10:g.(?_100327039)_(100330165_?)del
|
|
|
|
NC_000001.10:g.(?_100335936)_(100336445_?)del
|
|
|
|
NC_000001.10:g.(?_100340233)_(100343394_?)del
|
|
|
|
NC_000001.10:g.(?_100366182)_(100368360_?)del
|
|
|
|
NC_000001.10:g.(?_100366308)_(100367832_?)del
|
|
|
|
NC_000001.10:g.(?_100368229)_(100368360_?)del
|
|
|
|
NC_000001.10:g.(?_100380935)_(100382063_?)del
|
|
|
|
NC_000001.10:g.(?_24172205)_(24172683_?)dup
|
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)del
|
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)dup
|
|
|
|
NC_000001.10:g.(?_24186268)_(24186413_?)dup
|
|
|
|
NC_000001.10:g.(?_24191961)_(24194776_?)del
|
|
|
|
NC_000001.10:g.100330092T>A
|
rs794729208
|
|
|
NC_000001.11:g.(?_23859778)_(23859923_?)del
|
|
|
|
NC_000001.11:g.(?_42925375)_(42959176_?)del
|
|
|
|
NC_000001.11:g.(?_99892422)_(99892617_?)del
|
|
|
|
NC_000001.11:g.(?_99902663)_(99902814_?)del
|
|
|
|
NC_000001.11:g.(?_99910692)_(99910867_?)del
|
|
|
|
NC_000001.11:g.(?_99910692)_(99913758_?)del
|
|
|
|
NC_000001.11:g.(?_99921514)_(99921671_?)del
|
|
|
|
NC_000001.11:g.(?_99921524)_(99921661_?)del
|
|
|
|
NC_000001.11:g.155301478C>G
|
rs2148221101
|
|
|
NC_000001.11:g.99891220del
|
rs2100788198
|
|
|
NC_000002.12:g.(?_239048168)_(240879119_?)del
|
|
|
|
NC_000003.11:g.(?_148447967)_(151176497_?)del
|
|
|
|
NC_000003.11:g.(?_15512023)_(15687154_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
|
NC_000003.11:g.(?_15643358)_(15683584_?)del
|
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
|
NC_000003.11:g.(?_15683405)_(15687154_?)del
|
|
|
|
NC_000003.11:g.(?_168802697)_(172835521_?)dup
|
|
|
|
NC_000003.11:g.(?_170727727)_(170727891_?)del
|
|
|
|
NC_000003.11:g.(?_170732238)_(170732540_?)del
|
|
|
|
NC_000003.11:g.(?_33055538)_(33055812_?)del
|
|
|
|
NC_000003.11:g.(?_33099561)_(33099781_?)del
|
|
|
|
NC_000003.11:g.(?_33106935)_(33110482_?)del
|
|
|
|
NC_000003.11:g.(?_33106935)_(33114225_?)del
|
|
|
|
NC_000003.11:g.(?_50338409)_(50341042_?)del
|
|
|
|
NC_000003.11:g.(?_50339478)_(50341042_?)del
|
|
|
|
NC_000003.11:g.(?_50340112)_(50342638_?)del
|
|
|
|
NC_000003.11:g.(?_57130421)_(58520833_?)del
|
|
|
|
NC_000003.11:g.(?_58419338)_(58419536_?)dup
|
|
|
|
NC_000003.11:g.(?_81538849)_(81539615_81548260)del
|
|
|
|
NC_000003.11:g.(?_81539548)_(81699082_?)del
|
|
|
|
NC_000003.11:g.(?_81539548)_(81754774_?)del
|
|
|
|
NC_000003.11:g.(?_81539558)_(81754784_?)dup
|
|
|
|
NC_000003.11:g.(?_81539558)_(81810668_?)dup
|
|
|
|
NC_000003.11:g.(?_81548251)_(81548388_?)dup
|
|
|
|
NC_000003.11:g.(?_81584336)_(81584486_?)del
|
|
|
|
NC_000003.11:g.(?_81584336)_(81754774_?)del
|
|
|
|
NC_000003.11:g.(?_81584336)_(81810678_?)del
|
|
|
|
NC_000003.11:g.(?_81627056)_(81810688_?)del
|
|
|
|
NC_000003.11:g.(?_81627066)_(81643184_?)del
|
|
|
|
NC_000003.11:g.(?_81627066)_(81754774_?)del
|
|
|
|
NC_000003.11:g.(?_81640178)_(81643184_?)dup
|
|
|
|
NC_000003.11:g.(?_81691912)_(81810668_?)dup
|
|
|
|
NC_000003.11:g.(?_81691922)_(81699082_?)del
|
|
|
|
NC_000003.11:g.(?_81691922)_(81754774_?)del
|
|
|
|
NC_000003.11:g.(?_81695533)_(81695643_?)del
|
|
|
|
NC_000003.11:g.(?_81810516)_(81810678_?)del
|
|
|
|
NC_000003.12:g.(?_15601831)_(15601914_?)del
|
|
|
|
NC_000003.12:g.(?_33097001)_(33097095_?)del
|
|
|
|
NC_000003.12:g.(?_58428014)_(58431813_?)del
|
|
|
|
NC_000003.12:g.(?_81490387)_(81705633_?)del
|
|
|
|
NC_000003.12:g.(?_81490387)_(81761537_?)del
|
|
|
|
NC_000003.12:g.(?_81490397)_(81490473_?)del
|
|
|
|
NC_000003.12:g.(?_81490397)_(81761527_?)del
|
|
|
|
NC_000003.12:g.(?_81499090)_(81761537_?)del
|
|
|
|
NC_000003.12:g.(?_81591027)_(81594033_?)del
|
|
|
|
NC_000003.12:g.(?_81642771)_(81643000_?)del
|
|
|
|
NC_000003.12:g.(?_81642771)_(81670963_?)del
|
|
|
|
NC_000003.12:g.(?_81646382)_(81670963_?)del
|
|
|
|
NC_000003.12:g.(?_81761375)_(81761517_?)del
|
|
|
|
NC_000003.12:g.148996742del
|
|
|
|
NC_000003.12:g.33097285A>C
|
|
|
|
NC_000003.12:g.81594024_81594025insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCCAGC
|
|
|
|
NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
|
|
|
|
NC_000004.11:g.(?_101947022)_(104640832_?)del
|
|
|
|
NC_000004.11:g.(?_103635575)_(103635738_?)dup
|
|
|
|
NC_000004.11:g.(?_108816710)_(108955513_?)dup
|
|
|
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
|
NC_000004.11:g.(?_178351918)_(178357515_?)del
|
|
|
|
NC_000004.11:g.(?_178352862)_(178363529_?)dup
|
|
|
|
NC_000004.11:g.(?_178357420)_(178363667_?)del
|
|
|
|
NC_000004.11:g.(?_178363393)_(178363667_?)del
|
|
|
|
NC_000004.11:g.(?_38765721)_(41750627_?)dup
|
|
|
|
NC_000004.11:g.(?_39459814)_(39528725_?)dup
|
|
|
|
NC_000004.11:g.(?_39460510)_(39460802_?)dup
|
|
|
|
NC_000004.11:g.(?_39460718)_(39478755_?)dup
|
|
|
|
NC_000004.11:g.(?_39460738)_(39478735_?)dup
|
|
|
|
NC_000004.11:g.(?_980775)_(981040_?)del
|
|
|
|
NC_000004.11:g.(?_980775)_(981747_?)del
|
|
|
|
NC_000004.11:g.(?_980871)_(981050_?)dup
|
|
|
|
NC_000004.11:g.(?_980871)_(985491_?)dup
|
|
|
|
NC_000004.11:g.(?_994390)_(998355_?)del
|
|
|
|
NC_000004.11:g.(?_996510)_(998355_?)del
|
|
|
|
NC_000004.12:g.(?_102650517)_(102726703_?)del
|
|
|
|
NC_000004.12:g.(?_177431688)_(177442395_?)dup
|
|
|
|
NC_000004.12:g.107986495_107992009del
|
|
|
|
NC_000005.10:g.(78839427_78885583)_(78885828_78955294)del
|
|
|
|
NC_000005.10:g.(78885828_78955294)_(78955503_78964415)del
|
|
|
|
NC_000005.10:g.(?_78964406)_(78969202_?)del
|
|
|
|
NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
|
|
|
|
NC_000005.9:g.(?_77385207)_(78135259_?)del
|
|
|
|
NC_000005.9:g.(?_78076210)_(78181660_?)del
|
|
|
|
NC_000005.9:g.(?_78111899)_(78135259_?)del
|
|
|
|
NC_000005.9:g.(?_78135159)_(78135269_?)dup
|
|
|
|
NC_000005.9:g.(?_78135159)_(78281071_?)dup
|
|
|
|
NC_000005.9:g.(?_78181397)_(78181660_?)dup
|
|
|
|
NC_000005.9:g.(?_78251108)_(78251335_?)del
|
|
|
|
NC_000005.9:g.(?_78251108)_(78281081_?)del
|
|
|
|
NC_000005.9:g.(?_78260219)_(78265035_?)del
|
|
|
|
NC_000006.11:g.(?_18121650)_(18149358_?)del
|
|
|
|
NC_000006.11:g.(?_72596727)_(74363609_?)del
|
|
|
|
NC_000006.11:g.(?_74189435)_(74363609_?)dup
|
|
|
|
NC_000006.11:g.(?_74303101)_(74310165_74320122)del
|
|
|
|
NC_000006.11:g.(?_74304780)_(74363629_?)dup
|
|
|
|
NC_000006.11:g.(?_74304790)_(74310174_?)del
|
|
|
|
NC_000006.11:g.(?_74304790)_(74354336_?)del
|
|
|
|
NC_000006.11:g.(?_74304800)_(74310184_?)dup
|
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)del
|
|
|
|
NC_000006.11:g.(?_74310064)_(74310174_?)dup
|
|
|
|
NC_000006.11:g.(?_74320103)_(74320290_?)del
|
|
|
|
NC_000006.11:g.(?_74325018)_(74325190_?)del
|
|
|
|
NC_000006.11:g.(?_74331507)_(74331705_?)del
|
|
|
|
NC_000006.11:g.(?_74345095)_(74345233_?)del
|
|
|
|
NC_000006.11:g.(?_74345095)_(74346440_?)del
|
|
|
|
NC_000006.11:g.(?_74363496)_(74363609_?)del
|
|
|
|
NC_000006.12:g.(?_73610390)_(73615457_?)dup
|
|
|
|
NC_000006.12:g.(?_73641681)_(73644613_?)del
|
|
|
|
NC_000006.12:g.(?_73644397)_(73644613_?)del
|
|
|
|
NC_000007.13:g.(?_107412489)_(107559714_?)del
|
|
|
|
NC_000007.13:g.(?_107556049)_(107558012_?)del
|
|
|
|
NC_000007.13:g.(?_150642453)_(151573705_?)del
|
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)del
|
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)dup
|
|
|
|
NC_000007.13:g.(?_151254277)_(151254328_?)del
|
|
|
|
NC_000007.13:g.(?_151262800)_(152373170_?)del
|
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)del
|
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)dup
|
|
|
|
NC_000007.13:g.(?_151372486)_(151483647_?)dup
|
|
|
|
NC_000007.13:g.(?_151478218)_(151483647_?)del
|
|
|
|
NC_000007.13:g.(?_151478218)_(151573705_?)dup
|
|
|
|
NC_000007.13:g.(?_151478228)_(151573715_?)dup
|
|
|
|
NC_000007.13:g.(?_151573582)_(151573715_?)dup
|
|
|
|
NC_000007.13:g.(?_44102363)_(44105128_?)del
|
|
|
|
NC_000007.13:g.(?_44102363)_(44105128_?)dup
|
|
|
|
NC_000007.13:g.(?_65425884)_(65447170_?)dup
|
|
|
|
NC_000007.14:g.(?_107901728)_(107906378_?)del
|
|
|
|
NC_000007.14:g.(?_65960877)_(65982203_?)dup
|
|
|
|
NC_000007.14:g.(?_65960877)_(66092932_?)del
|
|
|
|
NC_000007.14:g.(?_65967711)_(65970386_?)del
|
|
|
|
NC_000007.14:g.(?_65970262)_(65970386_?)del
|
|
|
|
NC_000007.14:g.(?_65974275)_(65982203_?)del
|
|
|
|
NC_000007.14:g.65974442del
|
|
|
|
NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
|
|
|
|
NC_000008.10:g.(?_15397940)_(15615318_?)dup
|
|
|
|
NC_000008.10:g.(?_15588155)_(15615318_?)del
|
|
|
|
NC_000008.10:g.(?_15601027)_(15621747_?)dup
|
|
|
|
NC_000008.10:g.(?_42958672)_(43054732_?)dup
|
|
|
|
NC_000008.10:g.(?_42958692)_(43016670_?)dup
|
|
|
|
NC_000008.10:g.(?_42958692)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_42977230)_(43002226_?)del
|
|
|
|
NC_000008.10:g.(?_43002071)_(43033397_?)del
|
|
|
|
NC_000008.10:g.(?_43002091)_(43159912_?)dup
|
|
|
|
NC_000008.10:g.(?_43013698)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43024296)_(43024405_?)del
|
|
|
|
NC_000008.10:g.(?_43024296)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43027433)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43028846)_(43028896_?)dup
|
|
|
|
NC_000008.10:g.(?_43033197)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43037268)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43046597)_(43054712_?)dup
|
|
|
|
NC_000008.10:g.(?_43052071)_(43054712_?)dup
|
|
|
|
NC_000008.11:g.(?_43083118)_(43304769_?)dup
|
|
|
|
NC_000008.11:g.(?_43139449)_(43203827_?)dup
|
|
|
|
NC_000008.11:g.(?_43140487)_(43199579_?)dup
|
|
|
|
NC_000008.11:g.(?_43140497)_(43161507_?)del
|
|
|
|
NC_000008.11:g.(?_43169153)_(43178254_?)del
|
|
|
|
NC_000008.11:g.(?_43196928)_(43197972_?)del
|
|
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NC_000023.10:g.(?_148577857)_(148579858_?)del
|
|
|
|
NC_000023.10:g.(?_148578704)_(148586687_?)del
|
|
|
|
NC_000023.10:g.(?_148579618)_(148586687_?)del
|
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
|
NC_000023.10:g.(?_152014869)_(154563736_?)del
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153760215)_(153764413_?)dup
|
|
|
|
NC_000023.10:g.(?_153760215)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153762230)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
|
NC_000023.10:g.(?_18660114)_(19377781_?)del
|
|
|
|
NC_000023.10:g.(?_18925998)_(18929098_?)del
|
|
|
|
NC_000023.10:g.(?_19368035)_(19377771_?)dup
|
|
|
|
NC_000023.10:g.(?_71854985)_(71933728_?)dup
|
|
|
|
NC_000023.10:g.(?_71875950)_(71925114_?)dup
|
|
|
|
NC_000023.11:g.(?_120428464)_(120469189_?)del
|
|
|
|
NC_000023.11:g.(?_120431313)_(120469179_?)dup
|
|
|
|
NC_000023.11:g.(?_120431313)_(120470223_?)del
|
|
|
|
NC_000023.11:g.(?_120441710)_(120449148_?)del
|
|
|
|
NC_000023.11:g.(?_149478764)_(149505354_?)del
|
|
|
|
NC_000023.11:g.(?_18920012)_(18920221_?)del
|
|
|
|
NC_000023.11:g.(?_18929208)_(18983952_?)del
|
|
|
|
NC_000023.11:g.(?_72644342)_(72676170_?)del
|
|
|
|
NC_000023.11:g.154532803dup
|
|
|
|
NC_000023.11:g.154534338dup
|
rs2148330517
|
|
|
NC_000023.11:g.18905859_18905861del
|
rs2047801126
|
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
|
NG_008005.1:g.(14407_14970)_(15375_?)del
|
|
|
|
NG_008005.1:g.(7706_9235)_(15375_?)del
|
|
|
|
NG_008005.1:g.(?_5001)_(11460_12190)del
|
|
|
|
NG_008005.1:g.(?_5001)_(9305_10233)del
|
|
|
|
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
|
|
|
|
NG_008272.1:g.(37212_43567)_(48616_58573)del
|
|
|
|
NG_011731.2:g.4741A>C
|
rs2135818776
|
|
|
NG_013346.1:g.(24722_27196)_(28294_?)del
|
|
|
|
NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519]
|
|
|
|
NM_000027.3(AGA):c.-127_-123delGGGAC
|
rs886059265
|
|
|
NM_000027.4(AGA):c.*13G>C
|
rs1736640377
|
|
|
NM_000027.4(AGA):c.*35G>C
|
rs767154296
|
|
|
NM_000027.4(AGA):c.*3C>T
|
rs1736640740
|
|
|
NM_000027.4(AGA):c.*680G>A
|
rs886059259
|
|
|
NM_000027.4(AGA):c.*819CT[2]
|
rs146345347
|
|
|
NM_000027.4(AGA):c.*851G>A
|
rs186184411
|
|
|
NM_000027.4(AGA):c.*856C>G
|
rs1736607561
|
|
|
NM_000027.4(AGA):c.*915G>A
|
rs745380599
|
|
|
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
|
|
|
|
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
|
|
|
|
NM_000027.4(AGA):c.1006A>C (p.Asn336His)
|
rs151105390
|
|
|
NM_000027.4(AGA):c.1007del (p.Asn336fs)
|
|
|
|
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
|
|
|
|
NM_000027.4(AGA):c.1017T>G (p.Thr339=)
|
rs2111004518
|
|
|
NM_000027.4(AGA):c.1018G>T (p.Glu340Ter)
|
|
|
|
NM_000027.4(AGA):c.101_107del (p.Trp34fs)
|
rs759063638
|
|
|
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)
|
rs386833417
|
|
|
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
|
|
|
|
NM_000027.4(AGA):c.1038C>A (p.Ile346=)
|
|
|
|
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
|
|
|
|
NM_000027.4(AGA):c.105C>T (p.Pro35=)
|
rs199757656
|
|
|
NM_000027.4(AGA):c.10A>T (p.Lys4Ter)
|
|
|
|
NM_000027.4(AGA):c.120C>A (p.Thr40=)
|
rs1560952259
|
|
|
NM_000027.4(AGA):c.120C>T (p.Thr40=)
|
rs1560952259
|
|
|
NM_000027.4(AGA):c.121G>T (p.Glu41Ter)
|
rs1560952256
|
|
|
NM_000027.4(AGA):c.127+11G>A
|
|
|
|
NM_000027.4(AGA):c.127+12C>T
|
|
|
|
NM_000027.4(AGA):c.127+14G>A
|
|
|
|
NM_000027.4(AGA):c.127+15C>T
|
|
|
|
NM_000027.4(AGA):c.127+16C>G
|
|
|
|
NM_000027.4(AGA):c.127+1G>A
|
rs1057516565
|
|
|
NM_000027.4(AGA):c.127+5G>A
|
rs1327701669
|
|
|
NM_000027.4(AGA):c.127+8T>C
|
rs1227443826
|
|
|
NM_000027.4(AGA):c.127+9T>C
|
|
|
|
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)
|
rs386833418
|
|
|
NM_000027.4(AGA):c.128-14G>C
|
|
|
|
NM_000027.4(AGA):c.128-18T>A
|
|
|
|
NM_000027.4(AGA):c.128-19A>G
|
|
|
|
NM_000027.4(AGA):c.128-2A>C
|
|
|
|
NM_000027.4(AGA):c.128-2A>G
|
rs2111022003
|
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
|
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
|
|
|
|
NM_000027.4(AGA):c.135G>A (p.Arg45=)
|
|
|
|
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
|
|
|
|
NM_000027.4(AGA):c.153C>A (p.Gly51=)
|
rs1404115808
|
|
|
NM_000027.4(AGA):c.159C>G (p.Ala53=)
|
|
|
|
NM_000027.4(AGA):c.15G>A (p.Ser5=)
|
rs777972773
|
|
|
NM_000027.4(AGA):c.15G>T (p.Ser5=)
|
|
|
|
NM_000027.4(AGA):c.165T>C (p.Asp55=)
|
|
|
|
NM_000027.4(AGA):c.168A>C (p.Ala56=)
|
rs2111021852
|
|
|
NM_000027.4(AGA):c.168A>G (p.Ala56=)
|
|
|
|
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
|
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
|
NM_000027.4(AGA):c.187dup (p.Met63fs)
|
rs2111021738
|
|
|
NM_000027.4(AGA):c.18C>T (p.Asn6=)
|
rs1579047707
|
|
|
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)
|
rs386833419
|
|
|
NM_000027.4(AGA):c.192del (p.Cys64fs)
|
rs1553994830
|
|
|
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
|
|
|
|
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
|
|
|
|
NM_000027.4(AGA):c.19T>C (p.Leu7=)
|
rs2111028551
|
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
|
NM_000027.4(AGA):c.200_201dup (p.Gln68fs)
|
|
|
|
NM_000027.4(AGA):c.202C>T (p.Gln68Ter)
|
rs1560950756
|
|
|
NM_000027.4(AGA):c.210del (p.Asp70fs)
|
rs1736955435
|
|
|
NM_000027.4(AGA):c.214T>C (p.Ser72Pro)
|
rs121964909
|
|
|
NM_000027.4(AGA):c.216T>C (p.Ser72=)
|
|
|
|
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer)
|
rs1560950739
|
|
|
NM_000027.4(AGA):c.222C>T (p.Gly74=)
|
|
|
|
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
|
rs757065230
|
|
|
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
|
|
|
|
NM_000027.4(AGA):c.238G>C (p.Asp80His)
|
|
|
|
NM_000027.4(AGA):c.240T>C (p.Asp80=)
|
|
|
|
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
|
|
|
|
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
|
rs903884327
|
|
|
NM_000027.4(AGA):c.24T>G (p.Pro8=)
|
rs34413111
|
|
|
NM_000027.4(AGA):c.259C>T (p.Leu87=)
|
|
|
|
NM_000027.4(AGA):c.268dup (p.Met90fs)
|
rs2111021475
|
|
|
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
|
|
|
|
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
|
|
|
|
NM_000027.4(AGA):c.27G>C (p.Val9=)
|
rs764924616
|
|
|
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
|
|
|
|
NM_000027.4(AGA):c.281+11C>T
|
|
|
|
NM_000027.4(AGA):c.281+12_281+13delinsAG
|
|
|
|
NM_000027.4(AGA):c.281+15C>G
|
|
|
|
NM_000027.4(AGA):c.281+18G>T
|
rs376346895
|
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
|
NM_000027.4(AGA):c.281+8C>T
|
rs2111021417
|
|
|
NM_000027.4(AGA):c.281+9A>G
|
rs2111021413
|
|
|
NM_000027.4(AGA):c.282-10T>C
|
rs2111020138
|
|
|
NM_000027.4(AGA):c.282-12A>G
|
|
|
|
NM_000027.4(AGA):c.282-17A>T
|
|
|
|
NM_000027.4(AGA):c.282-19G>A
|
|
|
|
NM_000027.4(AGA):c.282-2A>G
|
|
|
|
NM_000027.4(AGA):c.282-9T>G
|
rs2111020136
|
|
|
NM_000027.4(AGA):c.28del (p.Leu10fs)
|
rs1057517062
|
|
|
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
|
|
|
|
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
|
|
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
|
NM_000027.4(AGA):c.306A>T (p.Val102=)
|
|
|
|
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
|
rs1736932419
|
|
|
NM_000027.4(AGA):c.308_310del (p.Gly103del)
|
rs1553994762
|
|
|
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
|
|
|
|
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
|
|
|
|
NM_000027.4(AGA):c.319C>A (p.Arg107=)
|
rs765070743
|
|
|
NM_000027.4(AGA):c.325A>T (p.Lys109Ter)
|
|
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
|
NM_000027.4(AGA):c.330T>C (p.Asn110=)
|
|
|
|
NM_000027.4(AGA):c.333del (p.Ile112fs)
|
rs1057517223
|
|
|
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
|
rs925345330
|
|
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
|
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
|
|
|
|
NM_000027.4(AGA):c.33C>T (p.Leu11=)
|
rs763702713
|
|
|
NM_000027.4(AGA):c.340G>A (p.Val114Met)
|
|
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
|
NM_000027.4(AGA):c.348G>A (p.Arg116=)
|
rs2111019818
|
|
|
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
|
rs74626221
|
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
|
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
|
rs1736928101
|
|
|
NM_000027.4(AGA):c.369_373del (p.His124fs)
|
rs386833424
|
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
|
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
|
rs386833425
|
|
|
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
|
|
|
|
NM_000027.4(AGA):c.376del (p.Leu126fs)
|
rs1553994755
|
|
|
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
|
|
|
|
NM_000027.4(AGA):c.394+10dup
|
rs761207366
|
|
|
NM_000027.4(AGA):c.394+13C>T
|
|
|
|
NM_000027.4(AGA):c.394+14T>C
|
|
|
|
NM_000027.4(AGA):c.394+18C>G
|
|
|
|
NM_000027.4(AGA):c.394+18C>T
|
|
|
|
NM_000027.4(AGA):c.394+20_394+21del
|
|
|
|
NM_000027.4(AGA):c.394+6T>C
|
|
|
|
NM_000027.4(AGA):c.394+7_394+10del
|
rs761207366
|
|
|
NM_000027.4(AGA):c.394+9T>C
|
|
|
|
NM_000027.4(AGA):c.395-11C>G
|
|
|
|
NM_000027.4(AGA):c.395-12del
|
|
|
|
NM_000027.4(AGA):c.395-14T>A
|
|
|
|
NM_000027.4(AGA):c.395-4C>G
|
|
|
|
NM_000027.4(AGA):c.395-5T>C
|
|
|
|
NM_000027.4(AGA):c.395-6C>A
|
|
|
|
NM_000027.4(AGA):c.395-7T>C
|
rs2111018312
|
|
|
NM_000027.4(AGA):c.395-9A>T
|
|
|
|
NM_000027.4(AGA):c.39del (p.Leu15fs)
|
|
|
|
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000027.4(AGA):c.3G>C (p.Met1Ile)
|
rs937973897
|
|
|
NM_000027.4(AGA):c.402A>C (p.Thr134=)
|
|
|
|
NM_000027.4(AGA):c.411A>G (p.Gln137=)
|
|
|
|
NM_000027.4(AGA):c.420G>T (p.Gly140=)
|
rs1579044062
|
|
|
NM_000027.4(AGA):c.426C>T (p.Ile142=)
|
|
|
|
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
|
|
|
|
NM_000027.4(AGA):c.432A>G (p.Glu144=)
|
rs2111018169
|
|
|
NM_000027.4(AGA):c.435C>T (p.Asp145=)
|
rs199682344
|
|
|
NM_000027.4(AGA):c.43C>T (p.Leu15=)
|
rs149921310
|
|
|
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
|
rs1202403932
|
|
|
NM_000027.4(AGA):c.44T>G (p.Leu15Arg)
|
rs386833429
|
|
|
NM_000027.4(AGA):c.453T>C (p.Ser151=)
|
|
|
|
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
|
|
|
|
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
|
rs991950983
|
|
|
NM_000027.4(AGA):c.45G>T (p.Leu15=)
|
|
|
|
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
|
|
|
|
NM_000027.4(AGA):c.471T>C (p.Asp157=)
|
|
|
|
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
|
|
|
|
NM_000027.4(AGA):c.489C>T (p.Cys163=)
|
|
|
|
NM_000027.4(AGA):c.48C>A (p.Leu16=)
|
rs749548544
|
|
|
NM_000027.4(AGA):c.48C>T (p.Leu16=)
|
rs749548544
|
|
|
NM_000027.4(AGA):c.490C>T (p.Gln164Ter)
|
rs1057517329
|
|
|
NM_000027.4(AGA):c.501T>C (p.Tyr167=)
|
|
|
|
NM_000027.4(AGA):c.507+10C>T
|
rs1190000409
|
|
|
NM_000027.4(AGA):c.507+11A>T
|
|
|
|
NM_000027.4(AGA):c.507+1G>C
|
|
|
|
NM_000027.4(AGA):c.507+20A>T
|
|
|
|
NM_000027.4(AGA):c.507+5G>C
|
rs1472514068
|
|
|
NM_000027.4(AGA):c.507+7A>G
|
rs2111017976
|
|
|
NM_000027.4(AGA):c.507+9A>T
|
|
|
|
NM_000027.4(AGA):c.508-14A>C
|
|
|
|
NM_000027.4(AGA):c.508-16T>A
|
|
|
|
NM_000027.4(AGA):c.508-16T>G
|
|
|
|
NM_000027.4(AGA):c.508-18C>G
|
rs762450535
|
|
|
NM_000027.4(AGA):c.508-18C>T
|
|
|
|
NM_000027.4(AGA):c.508-2A>C
|
|
|
|
NM_000027.4(AGA):c.508-7T>C
|
|
|
|
NM_000027.4(AGA):c.509dup (p.Asn170fs)
|
rs2111015936
|
|
|
NM_000027.4(AGA):c.510T>C (p.Asn170=)
|
rs1736864324
|
|
|
NM_000027.4(AGA):c.519dup (p.Asp174fs)
|
rs2111015862
|
|
|
NM_000027.4(AGA):c.528A>G (p.Ser176=)
|
|
|
|
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
|
|
|
|
NM_000027.4(AGA):c.530A>G (p.Lys177Arg)
|
rs1189458949
|
|
|
NM_000027.4(AGA):c.534C>T (p.Tyr178=)
|
|
|
|
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
|
rs1187962299
|
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
|
NM_000027.4(AGA):c.537C>T (p.Cys179=)
|
rs748171793
|
|
|
NM_000027.4(AGA):c.540A>C (p.Gly180=)
|
|
|
|
NM_000027.4(AGA):c.543C>A (p.Pro181=)
|
|
|
|
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
|
|
|
|
NM_000027.4(AGA):c.549A>G (p.Lys183=)
|
rs2111015751
|
|
|
NM_000027.4(AGA):c.552A>C (p.Pro184=)
|
|
|
|
NM_000027.4(AGA):c.552A>G (p.Pro184=)
|
|
|
|
NM_000027.4(AGA):c.552del (p.Pro185fs)
|
|
|
|
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
|
rs1736861131
|
|
|
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
|
|
|
|
NM_000027.4(AGA):c.559A>G (p.Ile187Val)
|
rs2111015706
|
|
|
NM_000027.4(AGA):c.55del (p.Ala19fs)
|
|
|
|
NM_000027.4(AGA):c.570G>A (p.Gln190=)
|
rs111633694
|
|
|
NM_000027.4(AGA):c.571G>C (p.Asp191His)
|
rs766110192
|
|
|
NM_000027.4(AGA):c.57C>G (p.Ala19=)
|
|
|
|
NM_000027.4(AGA):c.57C>T (p.Ala19=)
|
rs1737062444
|
|
|
NM_000027.4(AGA):c.582C>A (p.Ile194=)
|
|
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
|
NM_000027.4(AGA):c.58C>T (p.Leu20=)
|
rs758423275
|
|
|
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
|
rs370078048
|
|
|
NM_000027.4(AGA):c.595_596del (p.Glu199fs)
|
|
|
|
NM_000027.4(AGA):c.611A>T (p.His204Leu)
|
|
|
|
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
|
|
|
|
NM_000027.4(AGA):c.622+9_622+15dup
|
|
|
|
NM_000027.4(AGA):c.623-10del
|
rs745896951
|
|
|
NM_000027.4(AGA):c.623-11_623-10del
|
|
|
|
NM_000027.4(AGA):c.623-17T>C
|
|
|
|
NM_000027.4(AGA):c.623-18T>G
|
rs2111013629
|
|
|
NM_000027.4(AGA):c.623-21dup
|
rs745896951
|
|
|
NM_000027.4(AGA):c.623-2A>G
|
rs1483909684
|
|
|
NM_000027.4(AGA):c.623-3T>C
|
|
|
|
NM_000027.4(AGA):c.623-4C>G
|
|
|
|
NM_000027.4(AGA):c.623-9A>C
|
rs1388029418
|
|
|
NM_000027.4(AGA):c.624C>T (p.Gly208=)
|
|
|
|
NM_000027.4(AGA):c.63G>A (p.Val21=)
|
rs1737061654
|
|
|
NM_000027.4(AGA):c.665del (p.Thr222fs)
|
|
|
|
NM_000027.4(AGA):c.66C>T (p.Arg22=)
|
|
|
|
NM_000027.4(AGA):c.687C>T (p.Phe229=)
|
|
|
|
NM_000027.4(AGA):c.693A>G (p.Ile231Met)
|
rs1579042146
|
|
|
NM_000027.4(AGA):c.698+11C>A
|
|
|
|
NM_000027.4(AGA):c.698+13A>G
|
|
|
|
NM_000027.4(AGA):c.698+14A>G
|
|
|
|
NM_000027.4(AGA):c.698+19A>C
|
|
|
|
NM_000027.4(AGA):c.698+1G>A
|
rs1057517175
|
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
|
NM_000027.4(AGA):c.698+1del
|
rs2111013273
|
|
|
NM_000027.4(AGA):c.698+2T>C
|
rs2111013260
|
|
|
NM_000027.4(AGA):c.699-11C>A
|
|
|
|
NM_000027.4(AGA):c.699-11C>T
|
|
|
|
NM_000027.4(AGA):c.699-12A>G
|
|
|
|
NM_000027.4(AGA):c.699-17T>C
|
|
|
|
NM_000027.4(AGA):c.699-7C>T
|
rs886059260
|
|
|
NM_000027.4(AGA):c.699-9C>G
|
|
|
|
NM_000027.4(AGA):c.699-9C>T
|
|
|
|
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
|
|
|
|
NM_000027.4(AGA):c.701G>A (p.Arg234His)
|
|
|
|
NM_000027.4(AGA):c.705A>C (p.Val235=)
|
|
|
|
NM_000027.4(AGA):c.708A>G (p.Gly236=)
|
rs2111009301
|
|
|
NM_000027.4(AGA):c.70del (p.Ser24fs)
|
rs1057517239
|
|
|
NM_000027.4(AGA):c.711C>T (p.Asp237=)
|
|
|
|
NM_000027.4(AGA):c.719T>C (p.Ile240Thr)
|
rs1288215227
|
|
|
NM_000027.4(AGA):c.722C>A (p.Pro241His)
|
|
|
|
NM_000027.4(AGA):c.723T>G (p.Pro241=)
|
|
|
|
NM_000027.4(AGA):c.72C>T (p.Ser24=)
|
|
|
|
NM_000027.4(AGA):c.735dup (p.Tyr246fs)
|
|
|
|
NM_000027.4(AGA):c.741T>C (p.Ala247=)
|
rs2111009204
|
|
|
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
|
|
|
|
NM_000027.4(AGA):c.750T>C (p.Thr250=)
|
rs2111009153
|
|
|
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)
|
rs386833432
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
|
NM_000027.4(AGA):c.756G>A (p.Gly252=)
|
rs2111009133
|
|
|
NM_000027.4(AGA):c.756G>T (p.Gly252=)
|
|
|
|
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
|
rs1736735409
|
|
|
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
|
|
|
|
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
|
|
|
|
NM_000027.4(AGA):c.771T>G (p.Thr257=)
|
rs1736734050
|
|
|
NM_000027.4(AGA):c.774G>C (p.Gly258=)
|
|
|
|
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
|
|
|
|
NM_000027.4(AGA):c.780T>C (p.Gly260=)
|
rs1579040275
|
|
|
NM_000027.4(AGA):c.787T>C (p.Leu263=)
|
|
|
|
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)
|
rs386833435
|
|
|
NM_000027.4(AGA):c.789G>A (p.Leu263=)
|
rs2111008977
|
|
|
NM_000027.4(AGA):c.791T>C (p.Met264Thr)
|
rs1404090170
|
|
|
NM_000027.4(AGA):c.795C>T (p.Arg265=)
|
rs2111008931
|
|
|
NM_000027.4(AGA):c.797dup (p.Leu267fs)
|
|
|
|
NM_000027.4(AGA):c.79C>T (p.Leu27=)
|
|
|
|
NM_000027.4(AGA):c.800del (p.Leu267fs)
|
rs794728009
|
|
|
NM_000027.4(AGA):c.801G>T (p.Leu267=)
|
rs1736730616
|
|
|
NM_000027.4(AGA):c.806+11T>G
|
|
|
|
NM_000027.4(AGA):c.806+12T>A
|
|
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
|
NM_000027.4(AGA):c.806+13dup
|
|
|
|
NM_000027.4(AGA):c.806+14G>C
|
|
|
|
NM_000027.4(AGA):c.806+19T>C
|
|
|
|
NM_000027.4(AGA):c.806+20G>A
|
|
|
|
NM_000027.4(AGA):c.806+7C>A
|
|
|
|
NM_000027.4(AGA):c.807-11G>C
|
|
|
|
NM_000027.4(AGA):c.807-17A>C
|
|
|
|
NM_000027.4(AGA):c.807-1G>A
|
|
|
|
NM_000027.4(AGA):c.807-3C>T
|
|
|
|
NM_000027.4(AGA):c.807-8T>A
|
|
|
|
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
|
|
|
|
NM_000027.4(AGA):c.810C>T (p.Tyr270=)
|
|
|
|
NM_000027.4(AGA):c.816T>C (p.Ala272=)
|
|
|
|
NM_000027.4(AGA):c.81G>T (p.Leu27=)
|
|
|
|
NM_000027.4(AGA):c.822A>G (p.Glu274=)
|
rs2111007039
|
|
|
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
|
rs764622951
|
|
|
NM_000027.4(AGA):c.844C>G (p.Pro282Ala)
|
rs2111006963
|
|
|
NM_000027.4(AGA):c.84C>T (p.Pro28=)
|
rs182442304
|
|
|
NM_000027.4(AGA):c.852A>T (p.Ile284=)
|
rs540397394
|
|
|
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
|
|
|
|
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
|
rs1736687730
|
|
|
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
|
|
|
|
NM_000027.4(AGA):c.865G>A (p.Val289Met)
|
|
|
|
NM_000027.4(AGA):c.867G>C (p.Val289=)
|
|
|
|
NM_000027.4(AGA):c.870T>C (p.Ile290=)
|
|
|
|
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
|
|
|
|
NM_000027.4(AGA):c.879C>T (p.Ile293=)
|
|
|
|
NM_000027.4(AGA):c.897A>G (p.Glu299=)
|
rs2111006864
|
|
|
NM_000027.4(AGA):c.900C>A (p.Phe300Leu)
|
rs2111006859
|
|
|
NM_000027.4(AGA):c.902T>G (p.Phe301Cys)
|
rs35916166
|
|
|
NM_000027.4(AGA):c.904G>A (p.Gly302Arg)
|
rs121964905
|
|
|
NM_000027.4(AGA):c.904G>C (p.Gly302Arg)
|
|
|
|
NM_000027.4(AGA):c.906G>A (p.Gly302=)
|
rs2111006840
|
|
|
NM_000027.4(AGA):c.90C>G (p.Val30=)
|
|
|
|
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
|
|
|
|
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
|
|
|
|
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
|
|
|
|
NM_000027.4(AGA):c.916T>C (p.Cys306Arg)
|
rs121964906
|
|
|
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
|
|
|
|
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
|
|
|
|
NM_000027.4(AGA):c.936T>C (p.Ser312=)
|
|
|
|
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
|
|
|
|
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
|
|
|
|
NM_000027.4(AGA):c.940+13T>C
|
|
|
|
NM_000027.4(AGA):c.940+1G>A
|
rs386833437
|
|
|
NM_000027.4(AGA):c.940+20T>C
|
|
|
|
NM_000027.4(AGA):c.940+8G>A
|
rs2111006715
|
|
|
NM_000027.4(AGA):c.940+8G>T
|
rs2111006715
|
|
|
NM_000027.4(AGA):c.940+9T>C
|
rs2111006710
|
|
|
NM_000027.4(AGA):c.941-17C>T
|
|
|
|
NM_000027.4(AGA):c.941-1G>T
|
|
|
|
NM_000027.4(AGA):c.941-20T>C
|
|
|
|
NM_000027.4(AGA):c.941-2A>G
|
rs1553993921
|
|
|
NM_000027.4(AGA):c.941-7G>T
|
rs748346003
|
|
|
NM_000027.4(AGA):c.948T>C (p.Ala316=)
|
|
|
|
NM_000027.4(AGA):c.95A>C (p.Asn32Thr)
|
rs886059262
|
|
|
NM_000027.4(AGA):c.960T>G (p.Leu320=)
|
|
|
|
NM_000027.4(AGA):c.966A>G (p.Thr322=)
|
rs753625719
|
|
|
NM_000027.4(AGA):c.978T>C (p.Phe326=)
|
rs373878347
|
|
|
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
|
rs373878347
|
|
|
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)
|
rs1201784742
|
|
|
NM_000027.4(AGA):c.999C>G (p.Ser333=)
|
rs1479579564
|
|
|
NM_000027.4(AGA):c.99T>C (p.Thr33=)
|
rs2111028048
|
|
|
NM_000027.4(AGA):c.9del (p.Lys4fs)
|
|
|
|
NM_000030.2(AGXT):c.1072_1079del
|
|
|
|
NM_000030.2(AGXT):c.[299_307dup;308G>A]
|
|
|
|
NM_000030.2(AGXT):c.[829_830insA;830C>A]
|
|
|
|
NM_000030.2:c.1_524del
|
|
|
|
NM_000030.3(AGXT):c.*162A>G
|
rs886055844
|
|
|
NM_000030.3(AGXT):c.*194A>T
|
rs2059043450
|
|
|
NM_000030.3(AGXT):c.-23G>A
|
rs116057889
|
|
|
NM_000030.3(AGXT):c.-24C>G
|
rs192950967
|
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
|
NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter)
|
rs756437332
|
|
|
NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser)
|
rs796052065
|
|
|
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
|
rs2059038329
|
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
|
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
|
rs143488099
|
|
|
NM_000030.3(AGXT):c.1071+1G>A
|
rs180177158
|
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
|
NM_000030.3(AGXT):c.1072-91G>A
|
rs180177159
|
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
|
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
|
|
|
|
NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr)
|
rs180177163
|
|
|
NM_000030.3(AGXT):c.1110_1111del (p.Asn372fs)
|
rs796052075
|
|
|
NM_000030.3(AGXT):c.1120G>C (p.Asp374His)
|
|
|
|
NM_000030.3(AGXT):c.1125_1126del (p.Val376fs)
|
rs180177164
|
|
|
NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp)
|
rs796052066
|
|
|
NM_000030.3(AGXT):c.1161C>A (p.Cys387Ter)
|
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
|
NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)
|
rs180177168
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
|
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
|
|
|
|
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
|
|
|
|
NM_000030.3(AGXT):c.165+12G>C
|
rs201989825
|
|
|
NM_000030.3(AGXT):c.165+16A>G
|
rs66494441
|
|
|
NM_000030.3(AGXT):c.165+19_166-48dup
|
rs180177174
|
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
|
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
|
|
|
|
NM_000030.3(AGXT):c.166-1G>A
|
rs180177177
|
|
|
NM_000030.3(AGXT):c.166-1_172dup
|
|
|
|
NM_000030.3(AGXT):c.166-47T>C
|
rs180177178
|
|
|
NM_000030.3(AGXT):c.166-54C>T
|
rs180177179
|
|
|
NM_000030.3(AGXT):c.166-57C>T
|
rs180177175
|
|
|
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
|
rs761756536
|
|
|
NM_000030.3(AGXT):c.187G>C (p.Gly63Arg)
|
rs180177181
|
|
|
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
|
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
|
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
|
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
|
NM_000030.3(AGXT):c.198C>G (p.Tyr66Ter)
|
rs121908521
|
|
|
NM_000030.3(AGXT):c.205C>T (p.Gln69Ter)
|
rs180177182
|
|
|
NM_000030.3(AGXT):c.209C>A (p.Thr70Asn)
|
rs796052058
|
|
|
NM_000030.3(AGXT):c.215dup (p.Asn72fs)
|
rs796052069
|
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
|
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
|
|
|
|
NM_000030.3(AGXT):c.224del (p.Thr75fs)
|
|
|
|
NM_000030.3(AGXT):c.22G>C (p.Val8Leu)
|
rs796052057
|
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
|
|
|
|
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
|
|
|
|
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
|
|
|
|
NM_000030.3(AGXT):c.242C>A (p.Ser81Ter)
|
rs180177184
|
|
|
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
|
|
|
|
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
|
|
|
|
NM_000030.3(AGXT):c.244G>C (p.Gly82Arg)
|
rs180177185
|
|
|
NM_000030.3(AGXT):c.245_249delinsAGA (p.Gly82fs)
|
|
|
|
NM_000030.3(AGXT):c.248A>G (p.His83Arg)
|
rs180177186
|
|
|
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
|
rs2058978388
|
|
|
NM_000030.3(AGXT):c.254C>A (p.Ala85Asp)
|
rs796052059
|
|
|
NM_000030.3(AGXT):c.259del (p.Glu87fs)
|
|
|
|
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)
|
rs1553648333
|
|
|
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
|
|
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
|
NM_000030.3(AGXT):c.276del (p.Asn92fs)
|
rs180177187
|
|
|
NM_000030.3(AGXT):c.278_279insCACACTT (p.Leu94fs)
|
|
|
|
NM_000030.3(AGXT):c.279del (p.Leu94fs)
|
|
|
|
NM_000030.3(AGXT):c.27C>G (p.Thr9=)
|
rs180177188
|
|
|
NM_000030.3(AGXT):c.283G>A (p.Glu95Lys)
|
rs180177189
|
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
|
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup)
|
rs180177190
|
|
|
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
|
|
|
|
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)
|
rs180177191
|
|
|
NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)
|
|
|
|
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
|
|
|
|
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)
|
rs180177193
|
|
|
NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)
|
rs180177194
|
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
|
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)
|
rs1304689724
|
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
|
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)
|
rs2106427288
|
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
|
NM_000030.3(AGXT):c.323G>A (p.Trp108Ter)
|
rs180177198
|
|
|
NM_000030.3(AGXT):c.324G>T (p.Trp108Cys)
|
rs796052060
|
|
|
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
|
|
|
|
NM_000030.3(AGXT):c.326G>T (p.Gly109Val)
|
rs180177199
|
|
|
NM_000030.3(AGXT):c.327del (p.Gln110fs)
|
rs180177200
|
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
|
NM_000030.3(AGXT):c.32_33del (p.Pro11fs)
|
rs180177201
|
|
|
NM_000030.3(AGXT):c.331C>T (p.Arg111Ter)
|
rs180177202
|
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
|
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
|
rs1395056195
|
|
|
NM_000030.3(AGXT):c.346G>T (p.Gly116Trp)
|
|
|
|
NM_000030.3(AGXT):c.349G>T (p.Glu117Ter)
|
rs180177208
|
|
|
NM_000030.3(AGXT):c.349dup (p.Glu117fs)
|
|
|
|
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
|
|
|
|
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
|
|
|
|
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
|
|
|
|
NM_000030.3(AGXT):c.358+163G>T
|
rs11681134
|
|
|
NM_000030.3(AGXT):c.358+1G>T
|
rs796052067
|
|
|
NM_000030.3(AGXT):c.358+56_358+64del
|
rs180177209
|
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
|
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
|
rs747043550
|
|
|
NM_000030.3(AGXT):c.359-1_382del
|
rs796052070
|
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
|
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
|
|
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
|
NM_000030.3(AGXT):c.3G>T (p.Met1Ile)
|
rs180177213
|
|
|
NM_000030.3(AGXT):c.402C>G (p.Tyr134Ter)
|
|
|
|
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs)
|
rs1553648488
|
|
|
NM_000030.3(AGXT):c.409C>T (p.Gln137Ter)
|
rs180177214
|
|
|
NM_000030.3(AGXT):c.40dup (p.Leu14fs)
|
|
|
|
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
|
rs2058986411
|
|
|
NM_000030.3(AGXT):c.416_418del (p.Val139del)
|
rs180177215
|
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
|
NM_000030.3(AGXT):c.423+2T>C
|
|
|
|
NM_000030.3(AGXT):c.423+36A>C
|
rs180177216
|
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
|
NM_000030.3(AGXT):c.423G>T (p.Glu141Asp)
|
rs180177217
|
|
|
NM_000030.3(AGXT):c.424-12dup
|
rs398122323
|
|
|
NM_000030.3(AGXT):c.424-2A>G
|
rs180177219
|
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
|
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
|
rs1193344118
|
|
|
NM_000030.3(AGXT):c.445del (p.Val149fs)
|
rs180177220
|
|
|
NM_000030.3(AGXT):c.447_454del (p.Leu151fs)
|
rs180177221
|
|
|
NM_000030.3(AGXT):c.449T>C (p.Leu150Pro)
|
rs180177222
|
|
|
NM_000030.3(AGXT):c.457T>G (p.Leu153Val)
|
rs180177223
|
|
|
NM_000030.3(AGXT):c.458T>A (p.Leu153Ter)
|
|
|
|
NM_000030.3(AGXT):c.460del (p.Thr154fs)
|
rs180177224
|
|
|
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg)
|
rs121908530
|
|
|
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
|
|
|
|
NM_000030.3(AGXT):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_000030.3(AGXT):c.469del (p.Glu157fs)
|
|
|
|
NM_000030.3(AGXT):c.473C>A (p.Ser158Ter)
|
rs180177225
|
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
|
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)
|
rs180177227
|
|
|
NM_000030.3(AGXT):c.481G>C (p.Gly161Arg)
|
rs180177227
|
|
|
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
|
|
|
|
NM_000030.3(AGXT):c.483C>G (p.Gly161=)
|
rs757583201
|
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
|
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
|
rs528938116
|
|
|
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
|
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
|
NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr)
|
rs180177231
|
|
|
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter)
|
rs180177232
|
|
|
NM_000030.3(AGXT):c.519_520delinsGA (p.Cys173_His174delinsTrpAsn)
|
rs180177233
|
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
|
NM_000030.3(AGXT):c.524+3G>A
|
rs886055839
|
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
|
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
|
|
|
|
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
|
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
|
rs1400552764
|
|
|
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
|
|
|
|
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
|
|
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
|
NM_000030.3(AGXT):c.551C>A (p.Ser184Ter)
|
|
|
|
NM_000030.3(AGXT):c.557_562delinsATCGGT (p.Ala186_Ser187delinsAspArg)
|
rs180177237
|
|
|
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
|
|
|
|
NM_000030.3(AGXT):c.560_561insGGT (p.Ser187_Leu188insVal)
|
|
|
|
NM_000030.3(AGXT):c.568G>C (p.Gly190Arg)
|
|
|
|
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
|
|
|
|
NM_000030.3(AGXT):c.570del (p.Thr191fs)
|
rs180177240
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
|
NM_000030.3(AGXT):c.577dup (p.Leu193fs)
|
rs180177241
|
|
|
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
|
|
|
|
NM_000030.3(AGXT):c.583A>C (p.Met195Leu)
|
rs180177243
|
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
|
NM_000030.3(AGXT):c.593A>C (p.Gln198Pro)
|
|
|
|
NM_000030.3(AGXT):c.595+1G>A
|
|
|
|
NM_000030.3(AGXT):c.595+1G>T
|
|
|
|
NM_000030.3(AGXT):c.595+2T>G
|
|
|
|
NM_000030.3(AGXT):c.595G>A (p.Gly199Ser)
|
rs796052062
|
|
|
NM_000030.3(AGXT):c.596-1G>A
|
|
|
|
NM_000030.3(AGXT):c.596-2A>G
|
rs180177245
|
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
|
NM_000030.3(AGXT):c.598A>G (p.Ile200Val)
|
|
|
|
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
|
|
|
|
NM_000030.3(AGXT):c.605T>A (p.Ile202Asn)
|
rs536352238
|
|
|
NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter)
|
rs180177247
|
|
|
NM_000030.3(AGXT):c.614C>A (p.Ser205Ter)
|
rs180177248
|
|
|
NM_000030.3(AGXT):c.614C>T (p.Ser205Leu)
|
rs180177248
|
|
|
NM_000030.3(AGXT):c.622C>T (p.Gln208Ter)
|
|
|
|
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
|
|
|
|
NM_000030.3(AGXT):c.628G>C (p.Ala210Pro)
|
rs180177250
|
|
|
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
|
|
|
|
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr)
|
rs1200591457
|
|
|
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
|
|
|
|
NM_000030.3(AGXT):c.642_645del (p.Pro215fs)
|
rs180177251
|
|
|
NM_000030.3(AGXT):c.642del (p.Pro215fs)
|
rs2106429906
|
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
|
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
|
rs180177253
|
|
|
NM_000030.3(AGXT):c.658A>T (p.Ile220Phe)
|
|
|
|
NM_000030.3(AGXT):c.661T>C (p.Ser221Pro)
|
rs180177254
|
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
|
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
|
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
|
NM_000030.3(AGXT):c.680+1G>A
|
rs111996685
|
|
|
NM_000030.3(AGXT):c.680+1G>C
|
rs111996685
|
|
|
NM_000030.3(AGXT):c.680+1G>T
|
|
|
|
NM_000030.3(AGXT):c.680+2T>A
|
rs111742810
|
|
|
NM_000030.3(AGXT):c.680+480_776+69delinsTGAGA
|
rs1553648931
|
|
|
NM_000030.3(AGXT):c.680+5G>C
|
rs180177256
|
|
|
NM_000030.3(AGXT):c.681-1G>A
|
|
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
|
NM_000030.3(AGXT):c.682_683delAA (p.Lys228fs)
|
|
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
|
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup)
|
rs1553648979
|
|
|
NM_000030.3(AGXT):c.693C>G (p.Tyr231Ter)
|
|
|
|
NM_000030.3(AGXT):c.698G>T (p.Arg233Leu)
|
rs121908527
|
|
|
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
|
|
|
|
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_000030.3(AGXT):c.716_718del (p.Ser239del)
|
|
|
|
NM_000030.3(AGXT):c.725dup (p.Asp243fs)
|
rs180177257
|
|
|
NM_000030.3(AGXT):c.727G>C (p.Asp243His)
|
rs180177258
|
|
|
NM_000030.3(AGXT):c.731T>A (p.Ile244Asn)
|
|
|
|
NM_000030.3(AGXT):c.733_734del (p.Lys245fs)
|
|
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
|
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
|
rs121908528
|
|
|
NM_000030.3(AGXT):c.744del (p.Asn249fs)
|
rs180177261
|
|
|
NM_000030.3(AGXT):c.74T>G (p.Leu25Arg)
|
rs180177262
|
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
|
NM_000030.3(AGXT):c.753G>A (p.Trp251Ter)
|
rs180177263
|
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
|
NM_000030.3(AGXT):c.766del (p.Gln256fs)
|
|
|
|
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
|
|
|
|
NM_000030.3(AGXT):c.776+1G>A
|
rs180177265
|
|
|
NM_000030.3(AGXT):c.776+1G>C
|
rs180177265
|
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
|
NM_000030.3(AGXT):c.777-2A>G
|
rs796052068
|
|
|
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
|
|
|
|
NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)
|
rs180177268
|
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
|
NM_000030.3(AGXT):c.798_802delinsACAATCTCAG (p.Ile267fs)
|
rs180177270
|
|
|
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
|
|
|
|
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
|
|
|
|
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro)
|
rs180177271
|
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
|
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
|
|
|
|
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
|
|
|
|
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
|
|
|
|
NM_000030.3(AGXT):c.823A>C (p.Ser275Arg)
|
rs180177272
|
|
|
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs)
|
rs180177273
|
|
|
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
|
|
|
|
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
|
|
|
|
NM_000030.3(AGXT):c.830delinsAA (p.Ala277fs)
|
|
|
|
NM_000030.3(AGXT):c.834del (p.Ile279fs)
|
rs180177276
|
|
|
NM_000030.3(AGXT):c.837T>G (p.Ile279Met)
|
rs180177277
|
|
|
NM_000030.3(AGXT):c.838del (p.Ala280fs)
|
rs2106430924
|
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
|
NM_000030.3(AGXT):c.83del (p.Pro28fs)
|
rs180177278
|
|
|
NM_000030.3(AGXT):c.840G>A (p.Ala280=)
|
rs143295006
|
|
|
NM_000030.3(AGXT):c.844C>T (p.Gln282Ter)
|
rs180177279
|
|
|
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg)
|
rs180177280
|
|
|
NM_000030.3(AGXT):c.846+1G>A
|
rs180177281
|
|
|
NM_000030.3(AGXT):c.846+646_942+139del
|
|
|
|
NM_000030.3(AGXT):c.846G>C (p.Gln282His)
|
rs180177284
|
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
|
NM_000030.3(AGXT):c.848del
|
|
|
|
NM_000030.3(AGXT):c.851T>C (p.Leu284Pro)
|
rs180177287
|
|
|
NM_000030.3(AGXT):c.853G>T (p.Glu285Ter)
|
rs180177288
|
|
|
NM_000030.3(AGXT):c.860_861delinsCG (p.Ser287Thr)
|
rs180177289
|
|
|
NM_000030.3(AGXT):c.876C>A (p.Arg292=)
|
rs763852365
|
|
|
NM_000030.3(AGXT):c.883GCG[1] (p.Ala296del)
|
rs180177291
|
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
|
NM_000030.3(AGXT):c.893T>C (p.Leu298Pro)
|
rs180177293
|
|
|
NM_000030.3(AGXT):c.919del (p.Leu307fs)
|
rs180177295
|
|
|
NM_000030.3(AGXT):c.922C>T (p.Gln308Ter)
|
rs180177296
|
|
|
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
|
|
|
|
NM_000030.3(AGXT):c.942+1G>T
|
rs180177297
|
|
|
NM_000030.3(AGXT):c.943-1G>A
|
rs180177298
|
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
|
NM_000030.3(AGXT):c.947T>C (p.Leu316Pro)
|
rs796052063
|
|
|
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
|
rs200317876
|
|
|
NM_000030.3(AGXT):c.956C>T (p.Pro319Leu)
|
rs180177299
|
|
|
NM_000030.3(AGXT):c.959_960del (p.Thr320fs)
|
rs796052074
|
|
|
NM_000030.3(AGXT):c.971_972del (p.Val324fs)
|
rs180177300
|
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
|
NM_000030.3(AGXT):c.994_995del (p.Trp332fs)
|
|
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
|
NM_000030.3(AGXT):c.997A>T (p.Arg333Ter)
|
rs180177303
|
|
|
NM_000030.3(AGXT):c.[32C>T;836T>C]
|
|
|
|
NM_000035.4(ALDOB):c.*145A>G
|
rs552865615
|
|
|
NM_000035.4(ALDOB):c.*150del
|
rs200345626
|
|
|
NM_000035.4(ALDOB):c.*26C>T
|
rs1831050459
|
|
|
NM_000035.4(ALDOB):c.*289C>G
|
rs886063290
|
|
|
NM_000035.4(ALDOB):c.*683T>C
|
rs1831039987
|
|
|
NM_000035.4(ALDOB):c.*714A>G
|
rs886063289
|
|
|
NM_000035.4(ALDOB):c.*729G>C
|
rs1831039466
|
|
|
NM_000035.4(ALDOB):c.*802A>G
|
rs886063288
|
|
|
NM_000035.4(ALDOB):c.-10-2043_624+62del
|
|
|
|
NM_000035.4(ALDOB):c.1000-12T>C
|
|
|
|
NM_000035.4(ALDOB):c.1000-13A>G
|
|
|
|
NM_000035.4(ALDOB):c.1000-14T>C
|
|
|
|
NM_000035.4(ALDOB):c.1000-17T>C
|
|
|
|
NM_000035.4(ALDOB):c.1000-1_1006delinsTG
|
rs2118333206
|
|
|
NM_000035.4(ALDOB):c.1000-20C>G
|
|
|
|
NM_000035.4(ALDOB):c.1000-6T>C
|
|
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
|
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
|
rs1831052831
|
|
|
NM_000035.4(ALDOB):c.1008C>T (p.Cys336=)
|
|
|
|
NM_000035.4(ALDOB):c.102T>C (p.Asp34=)
|
|
|
|
NM_000035.4(ALDOB):c.1038G>A (p.Thr346=)
|
|
|
|
NM_000035.4(ALDOB):c.1038G>T (p.Thr346=)
|
|
|
|
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
|
rs2118333009
|
|
|
NM_000035.4(ALDOB):c.1044_1049delinsACACT (p.Ser349fs)
|
rs2118332973
|
|
|
NM_000035.4(ALDOB):c.1047T>C (p.Ser349=)
|
|
|
|
NM_000035.4(ALDOB):c.1059C>T (p.Ser353=)
|
|
|
|
NM_000035.4(ALDOB):c.1062C>T (p.Thr354=)
|
|
|
|
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)
|
rs1554702065
|
|
|
NM_000035.4(ALDOB):c.1071C>A (p.Leu357=)
|
|
|
|
NM_000035.4(ALDOB):c.1089C>G (p.Thr363=)
|
|
|
|
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter)
|
rs118204428
|
|
|
NM_000035.4(ALDOB):c.112+10A>G
|
rs2118366036
|
|
|
NM_000035.4(ALDOB):c.112+12A>G
|
|
|
|
NM_000035.4(ALDOB):c.112+17G>A
|
|
|
|
NM_000035.4(ALDOB):c.112+17G>T
|
|
|
|
NM_000035.4(ALDOB):c.112+1G>A
|
rs2118366070
|
|
|
NM_000035.4(ALDOB):c.112+1del
|
rs1057516534
|
|
|
NM_000035.4(ALDOB):c.112+20T>A
|
|
|
|
NM_000035.4(ALDOB):c.112+7G>A
|
rs1831206891
|
|
|
NM_000035.4(ALDOB):c.112+9A>G
|
|
|
|
NM_000035.4(ALDOB):c.113-10C>T
|
|
|
|
NM_000035.4(ALDOB):c.113-13C>T
|
|
|
|
NM_000035.4(ALDOB):c.113-17T>C
|
|
|
|
NM_000035.4(ALDOB):c.113-1G>A
|
rs748663340
|
|
|
NM_000035.4(ALDOB):c.113-1G>C
|
rs748663340
|
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
|
NM_000035.4(ALDOB):c.113-2A>G
|
|
|
|
NM_000035.4(ALDOB):c.113-4A>G
|
|
|
|
NM_000035.4(ALDOB):c.113-7A>C
|
rs1588172399
|
|
|
NM_000035.4(ALDOB):c.113-7A>G
|
|
|
|
NM_000035.4(ALDOB):c.113-8C>A
|
rs2118362981
|
|
|
NM_000035.4(ALDOB):c.114T>A (p.Gly38=)
|
|
|
|
NM_000035.4(ALDOB):c.114T>C (p.Gly38=)
|
|
|
|
NM_000035.4(ALDOB):c.129C>T (p.Arg43=)
|
|
|
|
NM_000035.4(ALDOB):c.136del (p.Arg46fs)
|
|
|
|
NM_000035.4(ALDOB):c.137G>A (p.Arg46Lys)
|
rs199920124
|
|
|
NM_000035.4(ALDOB):c.146del (p.Val49fs)
|
rs2118362762
|
|
|
NM_000035.4(ALDOB):c.149_155dup (p.Glu53fs)
|
rs2118362726
|
|
|
NM_000035.4(ALDOB):c.157G>T (p.Glu53Ter)
|
|
|
|
NM_000035.4(ALDOB):c.162G>A (p.Glu54=)
|
|
|
|
NM_000035.4(ALDOB):c.165C>T (p.Asn55=)
|
|
|
|
NM_000035.4(ALDOB):c.168C>T (p.Arg56=)
|
|
|
|
NM_000035.4(ALDOB):c.170G>C (p.Arg57Pro)
|
rs370761101
|
|
|
NM_000035.4(ALDOB):c.171G>A (p.Arg57=)
|
rs1297759351
|
|
|
NM_000035.4(ALDOB):c.171G>C (p.Arg57=)
|
|
|
|
NM_000035.4(ALDOB):c.172C>T (p.Gln58Ter)
|
rs1831192129
|
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
|
NM_000035.4(ALDOB):c.186C>T (p.Ile62=)
|
rs1588172329
|
|
|
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
|
rs1344537476
|
|
|
NM_000035.4(ALDOB):c.1A>G (p.Met1Val)
|
|
|
|
NM_000035.4(ALDOB):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000035.4(ALDOB):c.204T>C (p.Ser68=)
|
rs1831191276
|
|
|
NM_000035.4(ALDOB):c.214C>T (p.Gln72Ter)
|
rs1831191030
|
|
|
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)
|
rs781023784
|
|
|
NM_000035.4(ALDOB):c.225G>A (p.Gly75=)
|
|
|
|
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)
|
rs764779161
|
|
|
NM_000035.4(ALDOB):c.227del (p.Gly76fs)
|
|
|
|
NM_000035.4(ALDOB):c.227dup (p.Val77fs)
|
rs2118362340
|
|
|
NM_000035.4(ALDOB):c.231G>A (p.Val77=)
|
|
|
|
NM_000035.4(ALDOB):c.231G>T (p.Val77=)
|
rs2118362315
|
|
|
NM_000035.4(ALDOB):c.235del (p.Leu79fs)
|
|
|
|
NM_000035.4(ALDOB):c.249C>T (p.Thr83=)
|
rs1831190387
|
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
|
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
|
rs1831190272
|
|
|
NM_000035.4(ALDOB):c.252C>T (p.Leu84=)
|
|
|
|
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)
|
rs761063847
|
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
|
NM_000035.4(ALDOB):c.271G>T (p.Gly91Ter)
|
|
|
|
NM_000035.4(ALDOB):c.277C>T (p.Leu93=)
|
rs2118362136
|
|
|
NM_000035.4(ALDOB):c.279G>C (p.Leu93=)
|
|
|
|
NM_000035.4(ALDOB):c.27C>G (p.Thr9=)
|
|
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
|
NM_000035.4(ALDOB):c.287del (p.Asn96fs)
|
rs1554702890
|
|
|
NM_000035.4(ALDOB):c.294C>G (p.Leu98=)
|
rs2118362024
|
|
|
NM_000035.4(ALDOB):c.294C>T (p.Leu98=)
|
|
|
|
NM_000035.4(ALDOB):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000035.4(ALDOB):c.302del (p.Lys101fs)
|
rs974582114
|
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
|
NM_000035.4(ALDOB):c.312G>T (p.Val104=)
|
rs1831188786
|
|
|
NM_000035.4(ALDOB):c.315G>A (p.Val105=)
|
rs561489667
|
|
|
NM_000035.4(ALDOB):c.324+16C>T
|
|
|
|
NM_000035.4(ALDOB):c.324+18C>G
|
|
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
|
NM_000035.4(ALDOB):c.324+20C>G
|
|
|
|
NM_000035.4(ALDOB):c.324+2T>A
|
rs1057516379
|
|
|
NM_000035.4(ALDOB):c.324+7A>C
|
rs1452396378
|
|
|
NM_000035.4(ALDOB):c.324+9C>G
|
|
|
|
NM_000035.4(ALDOB):c.324+9C>T
|
rs761258365
|
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
|
NM_000035.4(ALDOB):c.325-15T>C
|
|
|
|
NM_000035.4(ALDOB):c.325-1G>A
|
rs1402966846
|
|
|
NM_000035.4(ALDOB):c.325-1G>C
|
rs1402966846
|
|
|
NM_000035.4(ALDOB):c.325-1G>T
|
rs1402966846
|
|
|
NM_000035.4(ALDOB):c.325-9T>C
|
|
|
|
NM_000035.4(ALDOB):c.331C>T (p.Gln111Ter)
|
rs528914024
|
|
|
NM_000035.4(ALDOB):c.336A>C (p.Gly112=)
|
rs1248064943
|
|
|
NM_000035.4(ALDOB):c.33G>A (p.Glu11=)
|
rs544090689
|
|
|
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val)
|
|
|
|
NM_000035.4(ALDOB):c.345_372del (p.Leu116fs)
|
rs2118358456
|
|
|
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
|
|
|
|
NM_000035.4(ALDOB):c.34C>T (p.Gln12Ter)
|
rs190631679
|
|
|
NM_000035.4(ALDOB):c.351A>G (p.Ala117=)
|
rs2118358644
|
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
|
NM_000035.4(ALDOB):c.360del (p.Asn120fs)
|
rs2118358565
|
|
|
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
|
rs775336756
|
|
|
NM_000035.4(ALDOB):c.372C>G (p.Thr124=)
|
|
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
|
NM_000035.4(ALDOB):c.379+12G>T
|
|
|
|
NM_000035.4(ALDOB):c.379+14C>G
|
|
|
|
NM_000035.4(ALDOB):c.379+18T>C
|
|
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
|
NM_000035.4(ALDOB):c.379+9A>T
|
rs778567515
|
|
|
NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)
|
|
|
|
NM_000035.4(ALDOB):c.380-12T>C
|
|
|
|
NM_000035.4(ALDOB):c.380-17T>C
|
|
|
|
NM_000035.4(ALDOB):c.380-19T>C
|
|
|
|
NM_000035.4(ALDOB):c.380-1G>A
|
rs1554702666
|
|
|
NM_000035.4(ALDOB):c.380-2A>G
|
rs1300461861
|
|
|
NM_000035.4(ALDOB):c.380-4G>T
|
rs747876844
|
|
|
NM_000035.4(ALDOB):c.380-9G>T
|
|
|
|
NM_000035.4(ALDOB):c.400C>A (p.Arg134Ser)
|
rs10123355
|
|
|
NM_000035.4(ALDOB):c.402C>T (p.Arg134=)
|
|
|
|
NM_000035.4(ALDOB):c.403T>C (p.Cys135Arg)
|
rs2118355570
|
|
|
NM_000035.4(ALDOB):c.414C>A (p.Tyr138Ter)
|
|
|
|
NM_000035.4(ALDOB):c.420del (p.Asp141fs)
|
rs1057517421
|
|
|
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
|
rs2118355518
|
|
|
NM_000035.4(ALDOB):c.426T>C (p.Gly142=)
|
rs774491597
|
|
|
NM_000035.4(ALDOB):c.427del (p.Val143fs)
|
rs2118355498
|
|
|
NM_000035.4(ALDOB):c.435T>C (p.Phe145=)
|
rs2118355452
|
|
|
NM_000035.4(ALDOB):c.438G>C (p.Gly146=)
|
|
|
|
NM_000035.4(ALDOB):c.439A>T (p.Lys147Ter)
|
rs1831150965
|
|
|
NM_000035.4(ALDOB):c.43del (p.Glu15fs)
|
rs1831209087
|
|
|
NM_000035.4(ALDOB):c.441G>A (p.Lys147=)
|
rs770794608
|
|
|
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)
|
rs1057516902
|
|
|
NM_000035.4(ALDOB):c.450T>A (p.Ala150=)
|
|
|
|
NM_000035.4(ALDOB):c.457_458del (p.Arg153fs)
|
|
|
|
NM_000035.4(ALDOB):c.462T>C (p.Ile154=)
|
rs2118355269
|
|
|
NM_000035.4(ALDOB):c.465C>A (p.Ala155=)
|
rs569981883
|
|
|
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
|
rs752810910
|
|
|
NM_000035.4(ALDOB):c.469C>T (p.Gln157Ter)
|
rs1831149748
|
|
|
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser)
|
rs1386846765
|
|
|
NM_000035.4(ALDOB):c.474T>A (p.Cys158Ter)
|
rs1179941004
|
|
|
NM_000035.4(ALDOB):c.474T>C (p.Cys158=)
|
rs1179941004
|
|
|
NM_000035.4(ALDOB):c.477A>G (p.Pro159=)
|
|
|
|
NM_000035.4(ALDOB):c.480C>T (p.Ser160=)
|
rs2118355075
|
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
|
NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp)
|
rs1460923575
|
|
|
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
|
|
|
|
NM_000035.4(ALDOB):c.510C>T (p.Ala170=)
|
|
|
|
NM_000035.4(ALDOB):c.511C>T (p.Leu171=)
|
rs2118354804
|
|
|
NM_000035.4(ALDOB):c.51A>G (p.Ser17=)
|
rs2118366331
|
|
|
NM_000035.4(ALDOB):c.522C>G (p.Tyr174Ter)
|
rs752902486
|
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
|
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val)
|
rs139442303
|
|
|
NM_000035.4(ALDOB):c.531C>T (p.Ile177=)
|
rs760339672
|
|
|
NM_000035.4(ALDOB):c.532T>C (p.Cys178Arg)
|
rs2118354587
|
|
|
NM_000035.4(ALDOB):c.538C>T (p.Gln180Ter)
|
|
|
|
NM_000035.4(ALDOB):c.539del (p.Gln180fs)
|
|
|
|
NM_000035.4(ALDOB):c.540+11T>C
|
|
|
|
NM_000035.4(ALDOB):c.540+15C>T
|
|
|
|
NM_000035.4(ALDOB):c.540+16C>T
|
|
|
|
NM_000035.4(ALDOB):c.540+19G>A
|
|
|
|
NM_000035.4(ALDOB):c.540+1G>C
|
rs2118354551
|
|
|
NM_000035.4(ALDOB):c.541-153_800-175del
|
|
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
|
NM_000035.4(ALDOB):c.541-277_651delinsATGGGTT
|
|
|
|
NM_000035.4(ALDOB):c.541-2A>G
|
|
|
|
NM_000035.4(ALDOB):c.541-5T>C
|
rs533131687
|
|
|
NM_000035.4(ALDOB):c.546A>G (p.Gly182=)
|
|
|
|
NM_000035.4(ALDOB):c.546del (p.Leu183fs)
|
rs1057517091
|
|
|
NM_000035.4(ALDOB):c.547C>T (p.Leu183=)
|
rs1831133410
|
|
|
NM_000035.4(ALDOB):c.548_553del (p.Leu183_Val184del)
|
rs387906226
|
|
|
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
|
rs1564077875
|
|
|
NM_000035.4(ALDOB):c.554C>G (p.Pro185Arg)
|
rs2118350958
|
|
|
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val)
|
|
|
|
NM_000035.4(ALDOB):c.567A>G (p.Pro189=)
|
rs2118350882
|
|
|
NM_000035.4(ALDOB):c.591T>C (p.His197=)
|
|
|
|
NM_000035.4(ALDOB):c.594C>T (p.Asp198=)
|
|
|
|
NM_000035.4(ALDOB):c.595C>T (p.Leu199=)
|
rs1831132321
|
|
|
NM_000035.4(ALDOB):c.603C>T (p.His201=)
|
|
|
|
NM_000035.4(ALDOB):c.606C>A (p.Cys202Ter)
|
|
|
|
NM_000035.4(ALDOB):c.606C>T (p.Cys202=)
|
|
|
|
NM_000035.4(ALDOB):c.607C>T (p.Gln203Ter)
|
rs868392830
|
|
|
NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
|
|
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
|
NM_000035.4(ALDOB):c.61C>T (p.Gln21Ter)
|
rs2118366288
|
|
|
NM_000035.4(ALDOB):c.621G>A (p.Glu207=)
|
rs765681180
|
|
|
NM_000035.4(ALDOB):c.624+19G>A
|
|
|
|
NM_000035.4(ALDOB):c.624+1G>A
|
|
|
|
NM_000035.4(ALDOB):c.624+1G>C
|
|
|
|
NM_000035.4(ALDOB):c.624+20G>C
|
|
|
|
NM_000035.4(ALDOB):c.624+9T>G
|
|
|
|
NM_000035.4(ALDOB):c.625-10T>C
|
rs2118347030
|
|
|
NM_000035.4(ALDOB):c.625-15C>T
|
|
|
|
NM_000035.4(ALDOB):c.625-1G>A
|
rs1564077542
|
|
|
NM_000035.4(ALDOB):c.625-20T>A
|
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
|
NM_000035.4(ALDOB):c.625-9G>T
|
rs1564077543
|
|
|
NM_000035.4(ALDOB):c.625-9_625-7dup
|
|
|
|
NM_000035.4(ALDOB):c.627C>G (p.Val209=)
|
|
|
|
NM_000035.4(ALDOB):c.627C>T (p.Val209=)
|
|
|
|
NM_000035.4(ALDOB):c.628C>T (p.Leu210=)
|
|
|
|
NM_000035.4(ALDOB):c.62del (p.Gln21fs)
|
rs2118366284
|
|
|
NM_000035.4(ALDOB):c.642C>A (p.Tyr214Ter)
|
|
|
|
NM_000035.4(ALDOB):c.645G>A (p.Lys215=)
|
|
|
|
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)
|
rs1554702442
|
|
|
NM_000035.4(ALDOB):c.669C>T (p.Tyr223=)
|
|
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
|
NM_000035.4(ALDOB):c.675G>A (p.Glu225=)
|
|
|
|
NM_000035.4(ALDOB):c.677G>A (p.Gly226Asp)
|
rs2118346537
|
|
|
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
|
rs371219301
|
|
|
NM_000035.4(ALDOB):c.683_688dup (p.Leu229_Lys230insMetLeu)
|
rs1478306331
|
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
|
NM_000035.4(ALDOB):c.687A>C (p.Leu229=)
|
|
|
|
NM_000035.4(ALDOB):c.687A>G (p.Leu229=)
|
|
|
|
NM_000035.4(ALDOB):c.689del (p.Lys230fs)
|
rs2118346335
|
|
|
NM_000035.4(ALDOB):c.6C>T (p.Ala2=)
|
|
|
|
NM_000035.4(ALDOB):c.705T>G (p.Thr235=)
|
|
|
|
NM_000035.4(ALDOB):c.712dup (p.His238fs)
|
rs1554702425
|
|
|
NM_000035.4(ALDOB):c.717C>T (p.Ala239=)
|
rs772197524
|
|
|
NM_000035.4(ALDOB):c.720C>A (p.Cys240Ter)
|
rs118204426
|
|
|
NM_000035.4(ALDOB):c.723C>G (p.Thr241=)
|
|
|
|
NM_000035.4(ALDOB):c.724A>T (p.Lys242Ter)
|
|
|
|
NM_000035.4(ALDOB):c.72T>C (p.Val24=)
|
|
|
|
NM_000035.4(ALDOB):c.732T>C (p.Tyr244=)
|
|
|
|
NM_000035.4(ALDOB):c.733A>G (p.Thr245Ala)
|
rs748031490
|
|
|
NM_000035.4(ALDOB):c.735T>C (p.Thr245=)
|
|
|
|
NM_000035.4(ALDOB):c.738A>G (p.Pro246=)
|
rs781139407
|
|
|
NM_000035.4(ALDOB):c.741A>G (p.Glu247=)
|
|
|
|
NM_000035.4(ALDOB):c.742C>T (p.Gln248Ter)
|
|
|
|
NM_000035.4(ALDOB):c.756C>T (p.Ala252=)
|
|
|
|
NM_000035.4(ALDOB):c.759C>A (p.Thr253=)
|
rs146360505
|
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
|
NM_000035.4(ALDOB):c.761dup (p.Thr255fs)
|
rs2118345550
|
|
|
NM_000035.4(ALDOB):c.76A>T (p.Asn26Tyr)
|
|
|
|
NM_000035.4(ALDOB):c.770T>C (p.Leu257Pro)
|
rs764701775
|
|
|
NM_000035.4(ALDOB):c.771C>T (p.Leu257=)
|
|
|
|
NM_000035.4(ALDOB):c.774C>T (p.His258=)
|
|
|
|
NM_000035.4(ALDOB):c.786T>A (p.Pro262=)
|
|
|
|
NM_000035.4(ALDOB):c.78T>C (p.Asn26=)
|
|
|
|
NM_000035.4(ALDOB):c.794T>C (p.Val265Ala)
|
|
|
|
NM_000035.4(ALDOB):c.799+16T>C
|
|
|
|
NM_000035.4(ALDOB):c.799+17T>C
|
|
|
|
NM_000035.4(ALDOB):c.799+19T>A
|
|
|
|
NM_000035.4(ALDOB):c.799+1G>A
|
|
|
|
NM_000035.4(ALDOB):c.799+20C>G
|
|
|
|
NM_000035.4(ALDOB):c.799+2T>A
|
rs2118345193
|
|
|
NM_000035.4(ALDOB):c.799+2T>C
|
|
|
|
NM_000035.4(ALDOB):c.799+7C>T
|
|
|
|
NM_000035.4(ALDOB):c.800-10C>G
|
rs375872252
|
|
|
NM_000035.4(ALDOB):c.800-10C>T
|
|
|
|
NM_000035.4(ALDOB):c.800-11T>C
|
|
|
|
NM_000035.4(ALDOB):c.800-12C>A
|
|
|
|
NM_000035.4(ALDOB):c.800-12C>T
|
|
|
|
NM_000035.4(ALDOB):c.800-13T>G
|
|
|
|
NM_000035.4(ALDOB):c.800-15C>T
|
|
|
|
NM_000035.4(ALDOB):c.800-2A>G
|
|
|
|
NM_000035.4(ALDOB):c.800-5A>G
|
rs199971480
|
|
|
NM_000035.4(ALDOB):c.800-6T>C
|
rs763222245
|
|
|
NM_000035.4(ALDOB):c.800-7C>T
|
|
|
|
NM_000035.4(ALDOB):c.800-8C>T
|
rs2118343372
|
|
|
NM_000035.4(ALDOB):c.806_808del (p.Cys269del)
|
rs1159180033
|
|
|
NM_000035.4(ALDOB):c.812T>C (p.Leu271Ser)
|
rs2118343224
|
|
|
NM_000035.4(ALDOB):c.812del (p.Leu271fs)
|
rs1554702353
|
|
|
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
|
rs778370988
|
|
|
NM_000035.4(ALDOB):c.828T>C (p.Ser276=)
|
|
|
|
NM_000035.4(ALDOB):c.839C>A (p.Ala280Asp)
|
rs1831103567
|
|
|
NM_000035.4(ALDOB):c.840C>T (p.Ala280=)
|
|
|
|
NM_000035.4(ALDOB):c.841_842del (p.Thr281fs)
|
rs2118342944
|
|
|
NM_000035.4(ALDOB):c.851T>C (p.Leu284Pro)
|
rs2118342839
|
|
|
NM_000035.4(ALDOB):c.855T>C (p.Asn285=)
|
|
|
|
NM_000035.4(ALDOB):c.858T>G (p.Ala286=)
|
|
|
|
NM_000035.4(ALDOB):c.865_867del (p.Leu289del)
|
rs118204425
|
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
|
NM_000035.4(ALDOB):c.870C>T (p.Cys290=)
|
|
|
|
NM_000035.4(ALDOB):c.87G>A (p.Gly29=)
|
|
|
|
NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)
|
rs1249398093
|
|
|
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)
|
rs1057517133
|
|
|
NM_000035.4(ALDOB):c.891A>G (p.Lys297=)
|
|
|
|
NM_000035.4(ALDOB):c.912G>A (p.Arg304=)
|
rs1588170091
|
|
|
NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
|
rs1588170091
|
|
|
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
|
rs1400203483
|
|
|
NM_000035.4(ALDOB):c.921G>A (p.Gln307=)
|
|
|
|
NM_000035.4(ALDOB):c.927T>C (p.Ser309=)
|
|
|
|
NM_000035.4(ALDOB):c.931C>T (p.Leu311=)
|
|
|
|
NM_000035.4(ALDOB):c.932T>C (p.Leu311Pro)
|
rs2118342191
|
|
|
NM_000035.4(ALDOB):c.933G>T (p.Leu311=)
|
|
|
|
NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr)
|
|
|
|
NM_000035.4(ALDOB):c.940dup (p.Trp314fs)
|
rs1554702328
|
|
|
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter)
|
rs1554702325
|
|
|
NM_000035.4(ALDOB):c.948C>A (p.Gly316=)
|
rs2118342090
|
|
|
NM_000035.4(ALDOB):c.949_950insCAGGGCCCGTGCACTGGCTGCCTGGGGTGGCA (p.Lys317fs)
|
|
|
|
NM_000035.4(ALDOB):c.954_995del (p.Ala319_Ala332del)
|
rs2118341777
|
|
|
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter)
|
rs1172384674
|
|
|
NM_000035.4(ALDOB):c.96T>C (p.Ala32=)
|
|
|
|
NM_000035.4(ALDOB):c.96T>G (p.Ala32=)
|
rs928855259
|
|
|
NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile)
|
rs2118341906
|
|
|
NM_000035.4(ALDOB):c.972C>G (p.Thr324=)
|
|
|
|
NM_000035.4(ALDOB):c.972C>T (p.Thr324=)
|
rs952816406
|
|
|
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)
|
rs371526091
|
|
|
NM_000035.4(ALDOB):c.999+10T>A
|
|
|
|
NM_000035.4(ALDOB):c.999+10T>C
|
|
|
|
NM_000035.4(ALDOB):c.999+12C>A
|
|
|
|
NM_000035.4(ALDOB):c.999+14A>G
|
|
|
|
NM_000035.4(ALDOB):c.999+18C>T
|
|
|
|
NM_000035.4(ALDOB):c.999+2T>C
|
|
|
|
NM_000035.4(ALDOB):c.99A>C (p.Ala33=)
|
rs1322360698
|
|
|
NM_000035.4:c.-10_624del
|
|
|
|
NM_000035.4:c.1_624del
|
|
|
|
NM_000046.3(ARSB):c.-1015A>G
|
rs886060801
|
|
|
NM_000046.3(ARSB):c.-855dup
|
rs574333268
|
|
|
NM_000046.3:c.384_386delCTC
|
|
|
|
NM_000046.4(ARSB):c.-112G>C
|
rs886060798
|
|
|
NM_000046.4(ARSB):c.-276T>C
|
rs534158632
|
|
|
NM_000046.4(ARSB):c.-322dup
|
rs11424557
|
|
|
NM_000046.4(ARSB):c.-410_-407delCTAA
|
rs151289643
|
|
|
NM_000046.4(ARSB):c.313-7412_690+1601del
|
|
|
|
NM_000046.4:c.(312+1_313-1_690+1_691-1)del
|
|
|
|
NM_000046.5(ARSB):c.*1147G>A
|
rs886060792
|
|
|
NM_000046.5(ARSB):c.*1276C>G
|
rs886060790
|
|
|
NM_000046.5(ARSB):c.*1286C>T
|
rs886060789
|
|
|
NM_000046.5(ARSB):c.*1360T>A
|
rs886060788
|
|
|
NM_000046.5(ARSB):c.*1372dup
|
rs551749278
|
|
|
NM_000046.5(ARSB):c.*1387C>T
|
rs555581069
|
|
|
NM_000046.5(ARSB):c.*1499C>G
|
rs886060787
|
|
|
NM_000046.5(ARSB):c.*1539dup
|
rs886060785
|
|
|
NM_000046.5(ARSB):c.*1899dup
|
rs886060784
|
|
|
NM_000046.5(ARSB):c.*1989C>T
|
rs878926507
|
|
|
NM_000046.5(ARSB):c.*2080G>A
|
rs886060783
|
|
|
NM_000046.5(ARSB):c.*2092A>T
|
rs1748827572
|
|
|
NM_000046.5(ARSB):c.*2155C>T
|
rs1748825888
|
|
|
NM_000046.5(ARSB):c.*2158C>T
|
rs1463642631
|
|
|
NM_000046.5(ARSB):c.*2524A>T
|
rs868066675
|
|
|
NM_000046.5(ARSB):c.*2525A>T
|
rs867923783
|
|
|
NM_000046.5(ARSB):c.*2543_*2545dup
|
rs397976147
|
|
|
NM_000046.5(ARSB):c.*2578A>T
|
rs548093605
|
|
|
NM_000046.5(ARSB):c.*2593T>G
|
rs1748811214
|
|
|
NM_000046.5(ARSB):c.*2637_*2639dup
|
rs886060781
|
|
|
NM_000046.5(ARSB):c.*2975G>T
|
rs3088247
|
|
|
NM_000046.5(ARSB):c.*3147G>A
|
rs1425606069
|
|
|
NM_000046.5(ARSB):c.*3174T>G
|
rs886060777
|
|
|
NM_000046.5(ARSB):c.*3181T>A
|
rs11750774
|
|
|
NM_000046.5(ARSB):c.*340A>C
|
rs1234619423
|
|
|
NM_000046.5(ARSB):c.*420A>G
|
rs1748876744
|
|
|
NM_000046.5(ARSB):c.*608G>A
|
rs886060796
|
|
|
NM_000046.5(ARSB):c.*619G>T
|
rs886060795
|
|
|
NM_000046.5(ARSB):c.*793T>A
|
rs886060794
|
|
|
NM_000046.5(ARSB):c.*922C>T
|
rs201284766
|
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
|
NM_000046.5(ARSB):c.1005C>T (p.Pro335=)
|
|
|
|
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
|
rs2112211547
|
|
|
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
|
|
|
|
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
|
rs2112211473
|
|
|
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met)
|
rs1554079305
|
|
|
NM_000046.5(ARSB):c.102G>A (p.Pro34=)
|
rs1466555919
|
|
|
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys)
|
rs1554079304
|
|
|
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
|
|
|
|
NM_000046.5(ARSB):c.1036G>T (p.Glu346Ter)
|
rs1747989303
|
|
|
NM_000046.5(ARSB):c.1036del (p.Glu346fs)
|
rs1554079302
|
|
|
NM_000046.5(ARSB):c.103_118del (p.Pro35fs)
|
rs2112583121
|
|
|
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
|
|
|
|
NM_000046.5(ARSB):c.1047C>T (p.His349=)
|
|
|
|
NM_000046.5(ARSB):c.1048A>T (p.Ile350Phe)
|
rs79970603
|
|
|
NM_000046.5(ARSB):c.1052C>T (p.Ser351Phe)
|
rs756671977
|
|
|
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg)
|
rs1554079297
|
|
|
NM_000046.5(ARSB):c.1059G>A (p.Trp353Ter)
|
rs1554079296
|
|
|
NM_000046.5(ARSB):c.1060_1061del (p.Leu354fs)
|
|
|
|
NM_000046.5(ARSB):c.1065A>G (p.Pro355=)
|
rs1580000175
|
|
|
NM_000046.5(ARSB):c.1069C>G (p.Leu357Val)
|
rs1310322781
|
|
|
NM_000046.5(ARSB):c.1071C>A (p.Leu357=)
|
|
|
|
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
|
rs1216502750
|
|
|
NM_000046.5(ARSB):c.1074G>A (p.Val358=)
|
rs2112211034
|
|
|
NM_000046.5(ARSB):c.1079T>C (p.Leu360Pro)
|
rs1554079284
|
|
|
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
|
|
|
|
NM_000046.5(ARSB):c.1088del (p.Gly363fs)
|
|
|
|
NM_000046.5(ARSB):c.1089A>G (p.Gly363=)
|
|
|
|
NM_000046.5(ARSB):c.108_120del (p.Ser37fs)
|
rs1028653411
|
|
|
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
|
rs1457848169
|
|
|
NM_000046.5(ARSB):c.1095C>A (p.Thr365=)
|
rs2112210847
|
|
|
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly)
|
rs1554079277
|
|
|
NM_000046.5(ARSB):c.111G>C (p.Ser37=)
|
rs2112583225
|
|
|
NM_000046.5(ARSB):c.1127T>A (p.Val376Glu)
|
rs1554079268
|
|
|
NM_000046.5(ARSB):c.1128G>A (p.Val376=)
|
|
|
|
NM_000046.5(ARSB):c.1130G>A (p.Trp377Ter)
|
rs1554079265
|
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
|
NM_000046.5(ARSB):c.113del (p.Gly38fs)
|
rs1349838988
|
|
|
NM_000046.5(ARSB):c.1140_1142+2del
|
rs1747980506
|
|
|
NM_000046.5(ARSB):c.1142+10C>T
|
|
|
|
NM_000046.5(ARSB):c.1142+11C>T
|
|
|
|
NM_000046.5(ARSB):c.1142+12C>T
|
|
|
|
NM_000046.5(ARSB):c.1142+14G>A
|
|
|
|
NM_000046.5(ARSB):c.1142+1G>T
|
rs746396210
|
|
|
NM_000046.5(ARSB):c.1142+2T>A
|
rs781510986
|
|
|
NM_000046.5(ARSB):c.1142+581A>G
|
|
|
|
NM_000046.5(ARSB):c.1142+671A>G
|
|
|
|
NM_000046.5(ARSB):c.1142+7A>T
|
rs1308281232
|
|
|
NM_000046.5(ARSB):c.1143-16A>C
|
|
|
|
NM_000046.5(ARSB):c.1143-1G>A
|
|
|
|
NM_000046.5(ARSB):c.1143-1G>T
|
|
|
|
NM_000046.5(ARSB):c.1143-22011C>A
|
|
|
|
NM_000046.5(ARSB):c.1143-8T>G
|
rs431905496
|
|
|
NM_000046.5(ARSB):c.114del (p.Ala39fs)
|
rs1554032252
|
|
|
NM_000046.5(ARSB):c.1161C>A (p.Pro387=)
|
|
|
|
NM_000046.5(ARSB):c.1161C>T (p.Pro387=)
|
|
|
|
NM_000046.5(ARSB):c.1161dup (p.Arg388fs)
|
rs1554074135
|
|
|
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr)
|
rs1554074134
|
|
|
NM_000046.5(ARSB):c.1168G>A (p.Glu390Lys)
|
rs1554074132
|
|
|
NM_000046.5(ARSB):c.116_123del (p.Ala39fs)
|
rs1554032243
|
|
|
NM_000046.5(ARSB):c.1170G>A (p.Glu390=)
|
|
|
|
NM_000046.5(ARSB):c.1173G>C (p.Leu391=)
|
rs2111983867
|
|
|
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
|
rs2111983845
|
|
|
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)
|
rs118203944
|
|
|
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
|
|
|
|
NM_000046.5(ARSB):c.118_134del (p.Gly40fs)
|
rs398123123
|
|
|
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
|
|
|
|
NM_000046.5(ARSB):c.1197C>G (p.Phe399Leu)
|
rs200793396
|
|
|
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
|
|
|
|
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
|
rs2112718154
|
|
|
NM_000046.5(ARSB):c.1206T>C (p.Ser402=)
|
|
|
|
NM_000046.5(ARSB):c.1208C>A (p.Ser403Ter)
|
rs771296632
|
|
|
NM_000046.5(ARSB):c.1208C>G (p.Ser403Ter)
|
rs771296632
|
|
|
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
|
|
|
|
NM_000046.5(ARSB):c.1208del (p.Ser403fs)
|
rs1554074124
|
|
|
NM_000046.5(ARSB):c.1209A>G (p.Ser403=)
|
|
|
|
NM_000046.5(ARSB):c.120G>T (p.Gly40=)
|
|
|
|
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
|
|
|
|
NM_000046.5(ARSB):c.1213+15A>G
|
|
|
|
NM_000046.5(ARSB):c.1213+18G>A
|
|
|
|
NM_000046.5(ARSB):c.1213+5G>A
|
rs1554074119
|
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
|
NM_000046.5(ARSB):c.1214-12A>G
|
|
|
|
NM_000046.5(ARSB):c.1214-12dup
|
|
|
|
NM_000046.5(ARSB):c.1214-14C>T
|
|
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
|
NM_000046.5(ARSB):c.1214-17A>C
|
|
|
|
NM_000046.5(ARSB):c.1214-1G>A
|
|
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
|
NM_000046.5(ARSB):c.1214-2A>T
|
rs1554069808
|
|
|
NM_000046.5(ARSB):c.1214-4C>T
|
|
|
|
NM_000046.5(ARSB):c.1214-5C>A
|
rs1580962835
|
|
|
NM_000046.5(ARSB):c.1214-5C>G
|
rs1580962835
|
|
|
NM_000046.5(ARSB):c.1214-6T>G
|
|
|
|
NM_000046.5(ARSB):c.121dup (p.Ala41fs)
|
rs1561197865
|
|
|
NM_000046.5(ARSB):c.123C>A (p.Ala41=)
|
rs886038216
|
|
|
NM_000046.5(ARSB):c.123_139dup (p.Leu47fs)
|
rs766772376
|
|
|
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
|
|
|
|
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
|
|
|
|
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
|
rs1362185630
|
|
|
NM_000046.5(ARSB):c.1261G>T (p.Glu421Ter)
|
rs1554069793
|
|
|
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
|
rs2112619347
|
|
|
NM_000046.5(ARSB):c.1279del (p.Thr427fs)
|
rs1554069791
|
|
|
NM_000046.5(ARSB):c.1281A>G (p.Thr427=)
|
|
|
|
NM_000046.5(ARSB):c.1286dup (p.His430fs)
|
rs1554069786
|
|
|
NM_000046.5(ARSB):c.1288C>A (p.His430Asn)
|
rs1554069785
|
|
|
NM_000046.5(ARSB):c.1289A>G (p.His430Arg)
|
rs1171277553
|
|
|
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
|
|
|
|
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
|
rs1748937951
|
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
|
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile)
|
rs1252936336
|
|
|
NM_000046.5(ARSB):c.1305T>C (p.His435=)
|
|
|
|
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
|
rs753899382
|
|
|
NM_000046.5(ARSB):c.1314G>A (p.Trp438Ter)
|
|
|
|
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu)
|
rs1554069778
|
|
|
NM_000046.5(ARSB):c.1320C>T (p.Leu440=)
|
|
|
|
NM_000046.5(ARSB):c.1325C>G (p.Thr442Arg)
|
|
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
|
NM_000046.5(ARSB):c.1326G>T (p.Thr442=)
|
rs537543103
|
|
|
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
|
rs749069139
|
|
|
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu)
|
rs1554069775
|
|
|
NM_000046.5(ARSB):c.1336+12A>G
|
|
|
|
NM_000046.5(ARSB):c.1336+18G>A
|
|
|
|
NM_000046.5(ARSB):c.1336+2T>C
|
rs768012515
|
|
|
NM_000046.5(ARSB):c.1336+4G>T
|
|
|
|
NM_000046.5(ARSB):c.1336+8C>A
|
|
|
|
NM_000046.5(ARSB):c.1336+8C>T
|
|
|
|
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser)
|
rs1554069772
|
|
|
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg)
|
rs1554069772
|
|
|
NM_000046.5(ARSB):c.1337-14G>C
|
|
|
|
NM_000046.5(ARSB):c.1337-15del
|
|
|
|
NM_000046.5(ARSB):c.1337-16T>C
|
|
|
|
NM_000046.5(ARSB):c.1337-19GTTTT[3]
|
rs780397796
|
|
|
NM_000046.5(ARSB):c.1337-19_1337-18del
|
|
|
|
NM_000046.5(ARSB):c.1337-1G>C
|
|
|
|
NM_000046.5(ARSB):c.1337-7T>C
|
|
|
|
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)
|
rs1465993279
|
|
|
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
|
|
|
|
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
|
rs759008131
|
|
|
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu)
|
rs1554069685
|
|
|
NM_000046.5(ARSB):c.1353C>T (p.Phe451=)
|
rs2112617431
|
|
|
NM_000046.5(ARSB):c.1356T>C (p.Pro452=)
|
|
|
|
NM_000046.5(ARSB):c.135C>G (p.Pro45=)
|
rs2112582844
|
|
|
NM_000046.5(ARSB):c.1368A>G (p.Gln456=)
|
|
|
|
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
|
|
|
|
NM_000046.5(ARSB):c.1381G>T (p.Glu461Ter)
|
rs2112617391
|
|
|
NM_000046.5(ARSB):c.1391C>A (p.Ser464Ter)
|
rs769996056
|
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
|
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
|
rs2112617369
|
|
|
NM_000046.5(ARSB):c.1404A>C (p.Pro468=)
|
rs1580961280
|
|
|
NM_000046.5(ARSB):c.1415T>C (p.Leu472Pro)
|
rs1211360114
|
|
|
NM_000046.5(ARSB):c.1418G>A (p.Trp473Ter)
|
|
|
|
NM_000046.5(ARSB):c.141G>C (p.Leu47=)
|
|
|
|
NM_000046.5(ARSB):c.1422C>T (p.Leu474=)
|
|
|
|
NM_000046.5(ARSB):c.1428T>C (p.Asp476=)
|
|
|
|
NM_000046.5(ARSB):c.1433del (p.Asp478fs)
|
|
|
|
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
|
rs2112617302
|
|
|
NM_000046.5(ARSB):c.1438dup (p.Asp480fs)
|
rs1167459660
|
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
|
NM_000046.5(ARSB):c.1451G>C (p.Arg484Thr)
|
|
|
|
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val)
|
rs1554069670
|
|
|
NM_000046.5(ARSB):c.1458C>A (p.Asp486Glu)
|
|
|
|
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
|
rs1748894464
|
|
|
NM_000046.5(ARSB):c.1475del (p.Pro492fs)
|
rs1554069669
|
|
|
NM_000046.5(ARSB):c.147C>T (p.Phe49=)
|
|
|
|
NM_000046.5(ARSB):c.1482C>A (p.Ile494=)
|
|
|
|
NM_000046.5(ARSB):c.1482del (p.Ile494fs)
|
rs1554069668
|
|
|
NM_000046.5(ARSB):c.1488A>T (p.Thr496=)
|
|
|
|
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
|
|
|
|
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro)
|
rs774358117
|
|
|
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
|
|
|
|
NM_000046.5(ARSB):c.149T>A (p.Leu50Ter)
|
rs1554032222
|
|
|
NM_000046.5(ARSB):c.1504C>T (p.Leu502=)
|
|
|
|
NM_000046.5(ARSB):c.1506A>G (p.Leu502=)
|
|
|
|
NM_000046.5(ARSB):c.1507C>T (p.Gln503Ter)
|
rs771113472
|
|
|
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
|
rs2112582698
|
|
|
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=)
|
rs1554069663
|
|
|
NM_000046.5(ARSB):c.1521dup (p.His508fs)
|
|
|
|
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro)
|
rs1554032220
|
|
|
NM_000046.5(ARSB):c.1530C>T (p.Val510=)
|
rs2112617107
|
|
|
NM_000046.5(ARSB):c.1533del (p.Val512fs)
|
|
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
|
NM_000046.5(ARSB):c.1539C>A (p.Tyr513Ter)
|
|
|
|
NM_000046.5(ARSB):c.1539C>G (p.Tyr513Ter)
|
rs1251438062
|
|
|
NM_000046.5(ARSB):c.1545T>G (p.Pro515=)
|
|
|
|
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
|
rs1158401003
|
|
|
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu)
|
rs1233108073
|
|
|
NM_000046.5(ARSB):c.1557C>T (p.Pro519=)
|
rs1748890674
|
|
|
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
|
|
|
|
NM_000046.5(ARSB):c.1558del (p.Arg520fs)
|
rs1160897474
|
|
|
NM_000046.5(ARSB):c.1558dup (p.Arg520fs)
|
|
|
|
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
|
rs750093168
|
|
|
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)
|
rs1554069661
|
|
|
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
|
rs2112617015
|
|
|
NM_000046.5(ARSB):c.1577del (p.Thr526fs)
|
rs1554069660
|
|
|
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
|
rs2112617006
|
|
|
NM_000046.5(ARSB):c.157G>A (p.Asp53Asn)
|
rs1554032217
|
|
|
NM_000046.5(ARSB):c.1581G>C (p.Gly527=)
|
|
|
|
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del)
|
rs1554069658
|
|
|
NM_000046.5(ARSB):c.158A>G (p.Asp53Gly)
|
rs2112582627
|
|
|
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg)
|
rs1554069659
|
|
|
NM_000046.5(ARSB):c.159C>T (p.Asp53=)
|
|
|
|
NM_000046.5(ARSB):c.15C>A (p.Gly5=)
|
|
|
|
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
|
rs1313700683
|
|
|
NM_000046.5(ARSB):c.15C>T (p.Gly5=)
|
|
|
|
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln)
|
rs1554069657
|
|
|
NM_000046.5(ARSB):c.1601A>C (p.Ter534Ser)
|
rs1554069655
|
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
|
NM_000046.5(ARSB):c.160G>A (p.Asp54Asn)
|
rs1554032216
|
|
|
NM_000046.5(ARSB):c.161A>C (p.Asp54Ala)
|
rs1378501017
|
|
|
NM_000046.5(ARSB):c.166G>A (p.Gly56Ser)
|
|
|
|
NM_000046.5(ARSB):c.166G>C (p.Gly56Arg)
|
|
|
|
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp)
|
rs1554032211
|
|
|
NM_000046.5(ARSB):c.170G>A (p.Trp57Ter)
|
rs200712296
|
|
|
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)
|
rs1554032205
|
|
|
NM_000046.5(ARSB):c.173del (p.Asn58fs)
|
rs1180759765
|
|
|
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)
|
rs1236509896
|
|
|
NM_000046.5(ARSB):c.176A>T (p.Asp59Val)
|
rs1179935748
|
|
|
NM_000046.5(ARSB):c.17_21dup (p.Ser8fs)
|
|
|
|
NM_000046.5(ARSB):c.180C>A (p.Val60=)
|
|
|
|
NM_000046.5(ARSB):c.180C>T (p.Val60=)
|
|
|
|
NM_000046.5(ARSB):c.189C>T (p.His63=)
|
|
|
|
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs)
|
rs1554032196
|
|
|
NM_000046.5(ARSB):c.18G>A (p.Ala6=)
|
|
|
|
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
|
rs1047766714
|
|
|
NM_000046.5(ARSB):c.191del (p.Gly64fs)
|
|
|
|
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe)
|
rs1233331806
|
|
|
NM_000046.5(ARSB):c.195C>A (p.Ser65=)
|
|
|
|
NM_000046.5(ARSB):c.195C>T (p.Ser65=)
|
rs2112582289
|
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
|
NM_000046.5(ARSB):c.207_213dup (p.Leu72fs)
|
rs1554032160
|
|
|
NM_000046.5(ARSB):c.208_215del (p.Pro70fs)
|
rs1554032155
|
|
|
NM_000046.5(ARSB):c.210G>A (p.Pro70=)
|
|
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
|
NM_000046.5(ARSB):c.219del (p.Asp73fs)
|
rs1554032153
|
|
|
NM_000046.5(ARSB):c.21G>A (p.Ala7=)
|
rs1266041134
|
|
|
NM_000046.5(ARSB):c.21G>C (p.Ala7=)
|
|
|
|
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
|
rs1160145148
|
|
|
NM_000046.5(ARSB):c.223_232del (p.Leu75fs)
|
rs1554032145
|
|
|
NM_000046.5(ARSB):c.223del (p.Leu75fs)
|
|
|
|
NM_000046.5(ARSB):c.225G>A (p.Leu75=)
|
rs1362656468
|
|
|
NM_000046.5(ARSB):c.225G>T (p.Leu75=)
|
|
|
|
NM_000046.5(ARSB):c.228G>A (p.Ala76=)
|
|
|
|
NM_000046.5(ARSB):c.234C>G (p.Gly78=)
|
|
|
|
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
|
rs1554032134
|
|
|
NM_000046.5(ARSB):c.238del (p.Val80fs)
|
rs431905493
|
|
|
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
|
|
|
|
NM_000046.5(ARSB):c.244C>G (p.Leu82Val)
|
|
|
|
NM_000046.5(ARSB):c.244C>T (p.Leu82=)
|
|
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
|
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg)
|
rs749465732
|
|
|
NM_000046.5(ARSB):c.246G>T (p.Leu82=)
|
rs1035210606
|
|
|
NM_000046.5(ARSB):c.247_248del (p.Asp83fs)
|
rs1554032131
|
|
|
NM_000046.5(ARSB):c.253T>C (p.Tyr85His)
|
rs1554032129
|
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
|
NM_000046.5(ARSB):c.255C>G (p.Tyr85Ter)
|
|
|
|
NM_000046.5(ARSB):c.257del (p.Tyr86fs)
|
rs1554032122
|
|
|
NM_000046.5(ARSB):c.25T>C (p.Leu9=)
|
|
|
|
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg)
|
rs1413561387
|
|
|
NM_000046.5(ARSB):c.263dup (p.Pro89fs)
|
rs1554032118
|
|
|
NM_000046.5(ARSB):c.264G>C (p.Gln88His)
|
rs750947605
|
|
|
NM_000046.5(ARSB):c.264G>T (p.Gln88His)
|
rs750947605
|
|
|
NM_000046.5(ARSB):c.267G>A (p.Pro89=)
|
rs573453966
|
|
|
NM_000046.5(ARSB):c.270_274del (p.Cys91fs)
|
rs1554032110
|
|
|
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg)
|
rs1554032113
|
|
|
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)
|
|
|
|
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr)
|
rs1554032112
|
|
|
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)
|
rs751010538
|
|
|
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser)
|
rs1554032104
|
|
|
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu)
|
rs1339096448
|
|
|
NM_000046.5(ARSB):c.281C>A (p.Ser94Ter)
|
rs1554032099
|
|
|
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu)
|
rs1554032099
|
|
|
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
|
rs2112581145
|
|
|
NM_000046.5(ARSB):c.283C>A (p.Arg95=)
|
|
|
|
NM_000046.5(ARSB):c.283C>T (p.Arg95Trp)
|
rs1201268402
|
|
|
NM_000046.5(ARSB):c.284G>T (p.Arg95Leu)
|
rs118203942
|
|
|
NM_000046.5(ARSB):c.285G>A (p.Arg95=)
|
rs763502806
|
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
|
NM_000046.5(ARSB):c.289C>A (p.Gln97Lys)
|
|
|
|
NM_000046.5(ARSB):c.289C>T (p.Gln97Ter)
|
rs1554032094
|
|
|
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)
|
rs886039914
|
|
|
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
|
|
|
|
NM_000046.5(ARSB):c.293T>A (p.Leu98Gln)
|
rs1554032090
|
|
|
NM_000046.5(ARSB):c.293T>G (p.Leu98Arg)
|
rs1554032090
|
|
|
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
|
rs1753094740
|
|
|
NM_000046.5(ARSB):c.300_312+18del
|
rs2112580593
|
|
|
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)
|
rs2112580877
|
|
|
NM_000046.5(ARSB):c.304C>A (p.Arg102Ser)
|
|
|
|
NM_000046.5(ARSB):c.306C>G (p.Arg102=)
|
|
|
|
NM_000046.5(ARSB):c.307_312+147del
|
rs1554089838
|
|
|
NM_000046.5(ARSB):c.309C>T (p.Tyr103=)
|
|
|
|
NM_000046.5(ARSB):c.30C>G (p.Pro10=)
|
|
|
|
NM_000046.5(ARSB):c.310C>T (p.Gln104Ter)
|
rs1753093650
|
|
|
NM_000046.5(ARSB):c.312+11C>T
|
|
|
|
NM_000046.5(ARSB):c.312+12C>T
|
|
|
|
NM_000046.5(ARSB):c.312+14C>A
|
rs1293997321
|
|
|
NM_000046.5(ARSB):c.312+14C>G
|
|
|
|
NM_000046.5(ARSB):c.312+14C>T
|
|
|
|
NM_000046.5(ARSB):c.312+14_312+18del
|
|
|
|
NM_000046.5(ARSB):c.312+14_312+22del
|
rs1425725676
|
|
|
NM_000046.5(ARSB):c.312+15C>G
|
|
|
|
NM_000046.5(ARSB):c.312+15del
|
|
|
|
NM_000046.5(ARSB):c.312+16G>A
|
|
|
|
NM_000046.5(ARSB):c.312+17C>G
|
|
|
|
NM_000046.5(ARSB):c.312+18C>T
|
|
|
|
NM_000046.5(ARSB):c.312+19_312+36del
|
rs762417834
|
|
|
NM_000046.5(ARSB):c.312+19_312+41del
|
|
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
|
NM_000046.5(ARSB):c.312+8G>A
|
rs774555967
|
|
|
NM_000046.5(ARSB):c.312+8_312+16dup
|
|
|
|
NM_000046.5(ARSB):c.312+9C>A
|
rs2112580691
|
|
|
NM_000046.5(ARSB):c.313-11A>G
|
|
|
|
NM_000046.5(ARSB):c.313-16T>C
|
|
|
|
NM_000046.5(ARSB):c.313-19T>G
|
|
|
|
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
|
rs2112530668
|
|
|
NM_000046.5(ARSB):c.31C>T (p.Arg11Ter)
|
|
|
|
NM_000046.5(ARSB):c.321A>G (p.Thr107=)
|
rs2112530622
|
|
|
NM_000046.5(ARSB):c.323G>A (p.Gly108Asp)
|
|
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
|
NM_000046.5(ARSB):c.327A>G (p.Leu109=)
|
|
|
|
NM_000046.5(ARSB):c.332A>C (p.His111Pro)
|
rs1554088096
|
|
|
NM_000046.5(ARSB):c.336A>G (p.Gln112=)
|
|
|
|
NM_000046.5(ARSB):c.339A>C (p.Ile113=)
|
|
|
|
NM_000046.5(ARSB):c.33A>G (p.Arg11=)
|
|
|
|
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)
|
rs2112530498
|
|
|
NM_000046.5(ARSB):c.347C>A (p.Pro116His)
|
rs775780931
|
|
|
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
|
|
|
|
NM_000046.5(ARSB):c.350G>A (p.Cys117Tyr)
|
|
|
|
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
|
rs2112530435
|
|
|
NM_000046.5(ARSB):c.352_365dup (p.Pro123fs)
|
|
|
|
NM_000046.5(ARSB):c.354G>A (p.Gln118=)
|
|
|
|
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg)
|
rs1554088087
|
|
|
NM_000046.5(ARSB):c.357C>T (p.Pro119=)
|
|
|
|
NM_000046.5(ARSB):c.359dup (p.Ser120fs)
|
|
|
|
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg)
|
rs1554088083
|
|
|
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
|
rs2112530329
|
|
|
NM_000046.5(ARSB):c.36C>A (p.Gly12=)
|
rs1580170993
|
|
|
NM_000046.5(ARSB):c.370C>T (p.Leu124=)
|
|
|
|
NM_000046.5(ARSB):c.375dup (p.Glu126Ter)
|
rs1554088081
|
|
|
NM_000046.5(ARSB):c.376G>T (p.Glu126Ter)
|
|
|
|
NM_000046.5(ARSB):c.384_386del (p.Leu129del)
|
rs1180227844
|
|
|
NM_000046.5(ARSB):c.385del (p.Leu129fs)
|
rs1752338387
|
|
|
NM_000046.5(ARSB):c.387G>A (p.Leu129=)
|
rs1752337674
|
|
|
NM_000046.5(ARSB):c.387G>C (p.Leu129=)
|
|
|
|
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu)
|
rs1435155976
|
|
|
NM_000046.5(ARSB):c.390C>G (p.Pro130=)
|
|
|
|
NM_000046.5(ARSB):c.395T>C (p.Leu132Pro)
|
rs1554088079
|
|
|
NM_000046.5(ARSB):c.399A>G (p.Leu133=)
|
rs778723643
|
|
|
NM_000046.5(ARSB):c.39C>T (p.Pro13=)
|
|
|
|
NM_000046.5(ARSB):c.403G>T (p.Glu135Ter)
|
|
|
|
NM_000046.5(ARSB):c.409G>A (p.Gly137Ser)
|
rs2112530008
|
|
|
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
|
|
|
|
NM_000046.5(ARSB):c.410G>T (p.Gly137Val)
|
rs118203938
|
|
|
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys)
|
rs1554088061
|
|
|
NM_000046.5(ARSB):c.417T>C (p.Thr139=)
|
|
|
|
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro)
|
rs1554088058
|
|
|
NM_000046.5(ARSB):c.426G>C (p.Met142Ile)
|
rs1554088053
|
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
|
NM_000046.5(ARSB):c.430G>C (p.Gly144Arg)
|
rs746206847
|
|
|
NM_000046.5(ARSB):c.432A>G (p.Gly144=)
|
|
|
|
NM_000046.5(ARSB):c.436T>C (p.Trp146Arg)
|
rs1554088037
|
|
|
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser)
|
rs1554088034
|
|
|
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu)
|
rs1554088034
|
|
|
NM_000046.5(ARSB):c.438G>A (p.Trp146Ter)
|
rs757061042
|
|
|
NM_000046.5(ARSB):c.438del (p.Trp146fs)
|
|
|
|
NM_000046.5(ARSB):c.440A>C (p.His147Pro)
|
rs1554088030
|
|
|
NM_000046.5(ARSB):c.441C>G (p.His147Gln)
|
rs1752333074
|
|
|
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
|
|
|
|
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu)
|
|
|
|
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr)
|
rs1554088019
|
|
|
NM_000046.5(ARSB):c.468del (p.Pro157fs)
|
rs2112529559
|
|
|
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
|
|
|
|
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
|
rs1042478077
|
|
|
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
|
rs966538858
|
|
|
NM_000046.5(ARSB):c.478C>G (p.Arg160Gly)
|
|
|
|
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln)
|
rs1196325597
|
|
|
NM_000046.5(ARSB):c.480A>G (p.Arg160=)
|
rs2112529443
|
|
|
NM_000046.5(ARSB):c.489_491del (p.Thr164del)
|
rs1214445569
|
|
|
NM_000046.5(ARSB):c.48G>A (p.Arg16=)
|
|
|
|
NM_000046.5(ARSB):c.48G>C (p.Arg16=)
|
|
|
|
NM_000046.5(ARSB):c.492C>T (p.Thr164=)
|
rs2112529378
|
|
|
NM_000046.5(ARSB):c.498del (p.Phe166fs)
|
rs1554088002
|
|
|
NM_000046.5(ARSB):c.499+13C>G
|
|
|
|
NM_000046.5(ARSB):c.499+13C>T
|
|
|
|
NM_000046.5(ARSB):c.499+15C>T
|
|
|
|
NM_000046.5(ARSB):c.499+16A>G
|
|
|
|
NM_000046.5(ARSB):c.499+16_499+17del
|
|
|
|
NM_000046.5(ARSB):c.499+2T>A
|
|
|
|
NM_000046.5(ARSB):c.499+5T>C
|
|
|
|
NM_000046.5(ARSB):c.499+6G>A
|
|
|
|
NM_000046.5(ARSB):c.499+7G>A
|
rs1334103341
|
|
|
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
|
|
|
|
NM_000046.5(ARSB):c.500-10A>G
|
rs2112514597
|
|
|
NM_000046.5(ARSB):c.500-10A>T
|
|
|
|
NM_000046.5(ARSB):c.500-11C>T
|
|
|
|
NM_000046.5(ARSB):c.500-17G>A
|
rs372317070
|
|
|
NM_000046.5(ARSB):c.500-17G>T
|
|
|
|
NM_000046.5(ARSB):c.500-18C>T
|
|
|
|
NM_000046.5(ARSB):c.500-4G>A
|
rs2112514576
|
|
|
NM_000046.5(ARSB):c.500-4G>T
|
rs2112514576
|
|
|
NM_000046.5(ARSB):c.500-8T>A
|
|
|
|
NM_000046.5(ARSB):c.509T>G (p.Leu170Arg)
|
rs1484763838
|
|
|
NM_000046.5(ARSB):c.511G>A (p.Gly171Ser)
|
rs1554087445
|
|
|
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
|
|
|
|
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)
|
rs748739839
|
|
|
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
|
rs377234838
|
|
|
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
|
rs377234838
|
|
|
NM_000046.5(ARSB):c.532C>G (p.His178Asp)
|
rs1554087441
|
|
|
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
|
|
|
|
NM_000046.5(ARSB):c.533A>T (p.His178Leu)
|
rs1554087439
|
|
|
NM_000046.5(ARSB):c.534T>G (p.His178Gln)
|
|
|
|
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
|
|
|
|
NM_000046.5(ARSB):c.540C>T (p.Arg180=)
|
|
|
|
NM_000046.5(ARSB):c.546A>G (p.Thr182=)
|
|
|
|
NM_000046.5(ARSB):c.54del (p.Leu19fs)
|
|
|
|
NM_000046.5(ARSB):c.551T>C (p.Ile184Thr)
|
|
|
|
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
|
|
|
|
NM_000046.5(ARSB):c.559C>T (p.Leu187=)
|
|
|
|
NM_000046.5(ARSB):c.574T>C (p.Cys192Arg)
|
rs1554087423
|
|
|
NM_000046.5(ARSB):c.582T>G (p.Leu194=)
|
|
|
|
NM_000046.5(ARSB):c.589C>T (p.Arg197Ter)
|
rs773460207
|
|
|
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly)
|
rs1406969234
|
|
|
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
|
|
|
|
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
|
rs2112583734
|
|
|
NM_000046.5(ARSB):c.615A>G (p.Gly205=)
|
|
|
|
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
|
|
|
|
NM_000046.5(ARSB):c.630_636del (p.Met209_Tyr210insTer)
|
rs1554087406
|
|
|
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile)
|
rs1554087409
|
|
|
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
|
rs1221636759
|
|
|
NM_000046.5(ARSB):c.63C>T (p.Pro21=)
|
|
|
|
NM_000046.5(ARSB):c.64dup (p.Val22fs)
|
rs2112583680
|
|
|
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
|
rs2112513773
|
|
|
NM_000046.5(ARSB):c.657T>C (p.Ala219=)
|
|
|
|
NM_000046.5(ARSB):c.659_660del (p.Ile220fs)
|
rs1554087395
|
|
|
NM_000046.5(ARSB):c.659del (p.Ile220fs)
|
|
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
|
NM_000046.5(ARSB):c.678T>C (p.His226=)
|
rs1580135735
|
|
|
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
|
|
|
|
NM_000046.5(ARSB):c.680del (p.Pro227fs)
|
|
|
|
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
|
|
|
|
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
|
|
|
|
NM_000046.5(ARSB):c.690+15T>C
|
|
|
|
NM_000046.5(ARSB):c.690+16A>C
|
|
|
|
NM_000046.5(ARSB):c.690+16A>G
|
|
|
|
NM_000046.5(ARSB):c.690+2T>C
|
|
|
|
NM_000046.5(ARSB):c.690+2T>G
|
|
|
|
NM_000046.5(ARSB):c.690+9T>C
|
|
|
|
NM_000046.5(ARSB):c.690+9del
|
rs2112513488
|
|
|
NM_000046.5(ARSB):c.691-12C>T
|
|
|
|
NM_000046.5(ARSB):c.691-20T>C
|
|
|
|
NM_000046.5(ARSB):c.691-4C>T
|
|
|
|
NM_000046.5(ARSB):c.691-6T>C
|
rs2112484612
|
|
|
NM_000046.5(ARSB):c.691-7T>C
|
|
|
|
NM_000046.5(ARSB):c.691-8C>T
|
|
|
|
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
|
rs1264190516
|
|
|
NM_000046.5(ARSB):c.694_695del (p.Leu232fs)
|
|
|
|
NM_000046.5(ARSB):c.69C>T (p.Val23=)
|
rs765737800
|
|
|
NM_000046.5(ARSB):c.6T>A (p.Gly2=)
|
|
|
|
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)
|
rs118203940
|
|
|
NM_000046.5(ARSB):c.710C>A (p.Ala237Asp)
|
rs1554086435
|
|
|
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
|
|
|
|
NM_000046.5(ARSB):c.715C>T (p.Gln239Ter)
|
|
|
|
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg)
|
rs1554086431
|
|
|
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe)
|
rs1554086430
|
|
|
NM_000046.5(ARSB):c.723G>T (p.Val241=)
|
rs199858121
|
|
|
NM_000046.5(ARSB):c.725A>C (p.His242Pro)
|
rs1554086428
|
|
|
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)
|
rs2112484265
|
|
|
NM_000046.5(ARSB):c.743del (p.Pro248fs)
|
rs431905494
|
|
|
NM_000046.5(ARSB):c.744T>A (p.Pro248=)
|
|
|
|
NM_000046.5(ARSB):c.745G>T (p.Glu249Ter)
|
|
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)
|
rs1554086417
|
|
|
NM_000046.5(ARSB):c.750_754delinsCCTGAAGTCAAG (p.Glu250fs)
|
rs1554086417
|
|
|
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)
|
rs765711776
|
|
|
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
|
|
|
|
NM_000046.5(ARSB):c.756G>A (p.Leu252=)
|
rs544156449
|
|
|
NM_000046.5(ARSB):c.762A>T (p.Pro254=)
|
rs2112484023
|
|
|
NM_000046.5(ARSB):c.765T>A (p.Tyr255Ter)
|
rs1554086414
|
|
|
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu)
|
|
|
|
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)
|
|
|
|
NM_000046.5(ARSB):c.777A>G (p.Gln259=)
|
|
|
|
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
|
rs749015246
|
|
|
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
|
rs2112483929
|
|
|
NM_000046.5(ARSB):c.789del (p.Arg263fs)
|
|
|
|
NM_000046.5(ARSB):c.790C>A (p.His264Asn)
|
rs558569339
|
|
|
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)
|
rs1554086402
|
|
|
NM_000046.5(ARSB):c.797A>G (p.Tyr266Cys)
|
|
|
|
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser)
|
rs887343928
|
|
|
NM_000046.5(ARSB):c.803G>T (p.Gly268Val)
|
rs1554086400
|
|
|
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
|
|
|
|
NM_000046.5(ARSB):c.813C>T (p.Ser271=)
|
|
|
|
NM_000046.5(ARSB):c.822T>C (p.Asp274=)
|
|
|
|
NM_000046.5(ARSB):c.823G>T (p.Glu275Ter)
|
rs1580121683
|
|
|
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
|
rs1751673041
|
|
|
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
|
|
|
|
NM_000046.5(ARSB):c.846A>G (p.Ala282=)
|
|
|
|
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
|
|
|
|
NM_000046.5(ARSB):c.85C>T (p.Leu29=)
|
|
|
|
NM_000046.5(ARSB):c.861T>C (p.Ser287=)
|
|
|
|
NM_000046.5(ARSB):c.866_867insTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGCAGTGGGCT (p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer)
|
rs2112483439
|
|
|
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys)
|
rs2112483415
|
|
|
NM_000046.5(ARSB):c.883_884dup (p.Ile296fs)
|
rs1554086370
|
|
|
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
|
rs1440962115
|
|
|
NM_000046.5(ARSB):c.887T>A (p.Ile296Asn)
|
rs1554086368
|
|
|
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
|
|
|
|
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile)
|
rs2112483313
|
|
|
NM_000046.5(ARSB):c.898+10T>C
|
|
|
|
NM_000046.5(ARSB):c.898+14T>C
|
|
|
|
NM_000046.5(ARSB):c.898+1G>A
|
rs1751669303
|
|
|
NM_000046.5(ARSB):c.898+1G>T
|
|
|
|
NM_000046.5(ARSB):c.898+9G>C
|
|
|
|
NM_000046.5(ARSB):c.899-10T>C
|
|
|
|
NM_000046.5(ARSB):c.899-1337_1142+1055del
|
|
|
|
NM_000046.5(ARSB):c.899-16C>T
|
|
|
|
NM_000046.5(ARSB):c.899-17A>G
|
|
|
|
NM_000046.5(ARSB):c.899-4dup
|
|
|
|
NM_000046.5(ARSB):c.899-9G>A
|
|
|
|
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu)
|
rs1280123243
|
|
|
NM_000046.5(ARSB):c.903C>G (p.Asn301Lys)
|
rs147495977
|
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
|
NM_000046.5(ARSB):c.905G>A (p.Gly302Glu)
|
|
|
|
NM_000046.5(ARSB):c.908G>A (p.Gly303Glu)
|
rs1408739927
|
|
|
NM_000046.5(ARSB):c.90G>A (p.Leu30=)
|
|
|
|
NM_000046.5(ARSB):c.916_917del (p.Leu306fs)
|
|
|
|
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
|
|
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
|
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
|
rs2112212439
|
|
|
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg)
|
rs1554079335
|
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
|
NM_000046.5(ARSB):c.924G>C (p.Gly308=)
|
|
|
|
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
|
|
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
|
NM_000046.5(ARSB):c.92T>C (p.Leu31Ser)
|
|
|
|
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys)
|
rs759384989
|
|
|
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)
|
rs749989641
|
|
|
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
|
rs1748000092
|
|
|
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)
|
rs891298440
|
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
|
NM_000046.5(ARSB):c.945A>G (p.Arg315=)
|
|
|
|
NM_000046.5(ARSB):c.94T>C (p.Leu32=)
|
rs2112583408
|
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
|
NM_000046.5(ARSB):c.954A>G (p.Lys318=)
|
rs2112212040
|
|
|
NM_000046.5(ARSB):c.956G>A (p.Trp319Ter)
|
|
|
|
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)
|
rs2112211996
|
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
|
NM_000046.5(ARSB):c.962T>A (p.Leu321Gln)
|
|
|
|
NM_000046.5(ARSB):c.962T>C (p.Leu321Pro)
|
rs1554079320
|
|
|
NM_000046.5(ARSB):c.963G>T (p.Leu321=)
|
|
|
|
NM_000046.5(ARSB):c.966G>A (p.Trp322Ter)
|
rs1554079318
|
|
|
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
|
|
|
|
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
|
rs773492223
|
|
|
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)
|
rs773492223
|
|
|
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
|
|
|
|
NM_000046.5(ARSB):c.982G>A (p.Gly328Arg)
|
|
|
|
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg)
|
rs748454316
|
|
|
NM_000046.5(ARSB):c.995T>G (p.Val332Gly)
|
rs1554079312
|
|
|
NM_000046.5(ARSB):c.999A>G (p.Ala333=)
|
rs1580000383
|
|
|
NM_000046.5(ARSB):c.99G>A (p.Ala33=)
|
|
|
|
NM_000046.5(ARSB):c.9G>A (p.Pro3=)
|
|
|
|
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
|
rs1289000597
|
|
|
NM_000060.2(BTD):c.[1207T>G;1330G>C]
|
|
|
|
NM_000060.2(BTD):c.[511G>A;1330G>C]
|
|
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
|
NM_000108.5(DLD):c.*470G>T
|
rs111619940
|
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
|
NM_000108.5(DLD):c.*947G>T
|
rs7777259
|
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
|
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.1016del (p.Val339fs)
|
|
|
|
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.1036A>T (p.Lys346Ter)
|
|
|
|
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.1047-1G>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.1080_1086dup (p.Ala363fs)
|
|
|
|
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.1105G>T (p.Glu369Ter)
|
rs2032293119
|
|
|
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
|
|
|
|
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.1119T>A (p.Cys373Ter)
|
rs2032293586
|
|
|
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.1178T>C (p.Ile393Thr)
|
rs121964991
|
|
|
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.118+1G>T
|
rs1554396908
|
|
|
NM_000108.5(DLD):c.1182C>G (p.Tyr394Ter)
|
rs757087726
|
|
|
NM_000108.5(DLD):c.1185dup (p.His396fs)
|
|
|
|
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
|
|
|
|
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.119-1G>T
|
|
|
|
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.1214C>G (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.1219G>T (p.Glu407Ter)
|
|
|
|
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.1233dup (p.Glu412fs)
|
|
|
|
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+1G>T
|
rs1554400483
|
|
|
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.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
|
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
|
|
|
|
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.1343A>G (p.Asp448Gly)
|
|
|
|
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.13A>G (p.Ser5Gly)
|
|
|
|
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.1421del (p.Gly474fs)
|
rs1554400699
|
|
|
NM_000108.5(DLD):c.1422A>G (p.Gly474=)
|
|
|
|
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
|
rs2032344125
|
|
|
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)
|
rs1554400704
|
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
|
NM_000108.5(DLD):c.1437T>C (p.Asp479=)
|
|
|
|
NM_000108.5(DLD):c.1444A>G (p.Arg482Gly)
|
rs397514650
|
|
|
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.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
|
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
|
rs2032348683
|
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
|
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.1520_1523del (p.Ile507fs)
|
rs777884525
|
|
|
NM_000108.5(DLD):c.1527T>C (p.Phe509=)
|
|
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
|
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.163G>A (p.Val55Ile)
|
rs2116207217
|
|
|
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.184C>T (p.Gln62Ter)
|
|
|
|
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>A
|
rs1554398193
|
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
|
NM_000108.5(DLD):c.199-10T>C
|
rs2116209763
|
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
|
NM_000108.5(DLD):c.199-4G>A
|
|
|
|
NM_000108.5(DLD):c.199-6T>C
|
rs1584462430
|
|
|
NM_000108.5(DLD):c.19dup (p.Val7fs)
|
|
|
|
NM_000108.5(DLD):c.204C>T (p.Val68=)
|
rs553951105
|
|
|
NM_000108.5(DLD):c.214A>G (p.Lys72Glu)
|
rs121964987
|
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
|
NM_000108.5(DLD):c.223dup (p.Thr75fs)
|
rs1057517214
|
|
|
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
|
|
|
|
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.268-1G>A
|
|
|
|
NM_000108.5(DLD):c.268-20A>T
|
|
|
|
NM_000108.5(DLD):c.268-2A>G
|
rs1554398461
|
|
|
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.325A>T (p.Arg109Ter)
|
rs2031930307
|
|
|
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.338-2_338-1delinsT
|
rs1554398624
|
|
|
NM_000108.5(DLD):c.338-4A>C
|
rs2116219347
|
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
|
NM_000108.5(DLD):c.345del (p.Val116fs)
|
rs1554398625
|
|
|
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.383delinsTA (p.Ser128fs)
|
|
|
|
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.439-1G>C
|
|
|
|
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.491_492insGTATAAGAGACAG (p.Thr165fs)
|
|
|
|
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.520A>G (p.Ile174Val)
|
rs2031981415
|
|
|
NM_000108.5(DLD):c.529A>T (p.Lys177Ter)
|
|
|
|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
|
|
|
NM_000108.5(DLD):c.542T>C (p.Ile181Thr)
|
rs1291809324
|
|
|
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.632_633del (p.Lys211fs)
|
|
|
|
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.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
|
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.737del (p.Gly246fs)
|
|
|
|
NM_000108.5(DLD):c.744A>G (p.Val248=)
|
|
|
|
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
|
rs2032247686
|
|
|
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.801del (p.Lys267fs)
|
|
|
|
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
|
rs2032249629
|
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
|
|
|
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.829A>T (p.Lys277Ter)
|
|
|
|
NM_000108.5(DLD):c.82del (p.Ser28fs)
|
rs764704217
|
|
|
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.856_857del (p.Asp286fs)
|
|
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
|
NM_000108.5(DLD):c.865dup (p.Ile289fs)
|
rs1554400179
|
|
|
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.898A>T (p.Lys300Ter)
|
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
|
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
|
rs2032281944
|
|
|
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.936C>A (p.Cys312Ter)
|
rs2032282970
|
|
|
NM_000108.5(DLD):c.93T>C (p.Pro31=)
|
rs1182818821
|
|
|
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
|
|
|
|
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.532T>A (p.Phe178Ile)
|
|
|
|
NM_000147.5(FUCA1):c.*286C>A
|
rs886046324
|
|
|
NM_000147.5(FUCA1):c.*438_*442del
|
rs886046323
|
|
|
NM_000147.5(FUCA1):c.*544T>A
|
rs886046321
|
|
|
NM_000147.5(FUCA1):c.1000A>T (p.Asn334Tyr)
|
|
|
|
NM_000147.5(FUCA1):c.1014C>T (p.Asn338=)
|
rs2148438798
|
|
|
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
|
|
|
|
NM_000147.5(FUCA1):c.1032T>C (p.Asp344=)
|
|
|
|
NM_000147.5(FUCA1):c.1035A>T (p.Gly345=)
|
|
|
|
NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)
|
|
|
|
NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)
|
|
|
|
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
|
|
|
|
NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)
|
|
|
|
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
|
rs1393793214
|
|
|
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)
|
rs864309551
|
|
|
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
|
|
|
|
NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)
|
|
|
|
NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)
|
|
|
|
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)
|
|
|
|
NM_000147.5(FUCA1):c.111C>T (p.Tyr37=)
|
|
|
|
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
|
|
|
|
NM_000147.5(FUCA1):c.1123del (p.Trp375fs)
|
|
|
|
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)
|
rs794727774
|
|
|
NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)
|
|
|
|
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)
|
rs80358195
|
|
|
NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)
|
|
|
|
NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)
|
|
|
|
NM_000147.5(FUCA1):c.1158A>G (p.Val386=)
|
|
|
|
NM_000147.5(FUCA1):c.1160+10_1160+14del
|
|
|
|
NM_000147.5(FUCA1):c.1160+16T>C
|
rs2148438645
|
|
|
NM_000147.5(FUCA1):c.1160+17G>C
|
|
|
|
NM_000147.5(FUCA1):c.1160+20G>A
|
|
|
|
NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)
|
rs80358197
|
|
|
NM_000147.5(FUCA1):c.1161-17T>C
|
|
|
|
NM_000147.5(FUCA1):c.1161-19G>A
|
|
|
|
NM_000147.5(FUCA1):c.1161-21GT[3]
|
|
|
|
NM_000147.5(FUCA1):c.1161-5C>T
|
|
|
|
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg)
|
rs1639135764
|
|
|
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
|
|
|
|
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
|
|
|
|
NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)
|
|
|
|
NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)
|
|
|
|
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)
|
rs764863416
|
|
|
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
|
|
|
|
NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)
|
|
|
|
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
|
|
|
|
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
|
|
|
|
NM_000147.5(FUCA1):c.1260+14G>A
|
rs777928698
|
|
|
NM_000147.5(FUCA1):c.1260+14G>C
|
|
|
|
NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA
|
rs571738393
|
|
|
NM_000147.5(FUCA1):c.1260+2T>A
|
|
|
|
NM_000147.5(FUCA1):c.1260+8G>A
|
|
|
|
NM_000147.5(FUCA1):c.1261-14T>A
|
|
|
|
NM_000147.5(FUCA1):c.1261-18C>T
|
|
|
|
NM_000147.5(FUCA1):c.1261-1G>A
|
|
|
|
NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)
|
|
|
|
NM_000147.5(FUCA1):c.126G>A (p.Pro42=)
|
|
|
|
NM_000147.5(FUCA1):c.1272G>T (p.Leu424=)
|
rs2148436980
|
|
|
NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)
|
|
|
|
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)
|
rs1186488065
|
|
|
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
|
|
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
|
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
|
rs1639127458
|
|
|
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His)
|
rs1639125891
|
|
|
NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)
|
|
|
|
NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)
|
|
|
|
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met)
|
rs770042348
|
|
|
NM_000147.5(FUCA1):c.1386G>C (p.Leu462=)
|
rs2148436874
|
|
|
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=)
|
rs2148436869
|
|
|
NM_000147.5(FUCA1):c.151_160del (p.Ala51fs)
|
rs1570692560
|
|
|
NM_000147.5(FUCA1):c.153C>G (p.Ala51=)
|
|
|
|
NM_000147.5(FUCA1):c.15G>A (p.Gly5=)
|
|
|
|
NM_000147.5(FUCA1):c.15G>T (p.Gly5=)
|
|
|
|
NM_000147.5(FUCA1):c.162C>T (p.Asp54=)
|
|
|
|
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)
|
rs886046325
|
|
|
NM_000147.5(FUCA1):c.167_170dup (p.Lys57fs)
|
|
|
|
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
|
|
|
|
NM_000147.5(FUCA1):c.170del (p.Lys57fs)
|
rs1639663980
|
|
|
NM_000147.5(FUCA1):c.177G>C (p.Gly59=)
|
|
|
|
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser)
|
rs2148450635
|
|
|
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr)
|
rs2148450632
|
|
|
NM_000147.5(FUCA1):c.189C>T (p.His63=)
|
|
|
|
NM_000147.5(FUCA1):c.194G>A (p.Gly65Asp)
|
|
|
|
NM_000147.5(FUCA1):c.203C>T (p.Ser68Leu)
|
|
|
|
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu)
|
rs770492031
|
|
|
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val)
|
rs1224396509
|
|
|
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)
|
rs1639662981
|
|
|
NM_000147.5(FUCA1):c.216G>A (p.Trp72Ter)
|
|
|
|
NM_000147.5(FUCA1):c.237del (p.Trp79fs)
|
rs1639662557
|
|
|
NM_000147.5(FUCA1):c.23C>A (p.Ser8Ter)
|
|
|
|
NM_000147.5(FUCA1):c.249C>T (p.Gly83=)
|
|
|
|
NM_000147.5(FUCA1):c.255G>A (p.Gly85=)
|
|
|
|
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
|
|
|
|
NM_000147.5(FUCA1):c.27G>C (p.Arg9=)
|
|
|
|
NM_000147.5(FUCA1):c.291C>G (p.Tyr97Ter)
|
|
|
|
NM_000147.5(FUCA1):c.291C>T (p.Tyr97=)
|
|
|
|
NM_000147.5(FUCA1):c.293dup (p.Pro99fs)
|
|
|
|
NM_000147.5(FUCA1):c.297C>T (p.Pro99=)
|
|
|
|
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg)
|
rs2070956
|
|
|
NM_000147.5(FUCA1):c.30G>A (p.Pro10=)
|
|
|
|
NM_000147.5(FUCA1):c.312C>G (p.Ala104=)
|
|
|
|
NM_000147.5(FUCA1):c.315C>T (p.Asp105=)
|
|
|
|
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser)
|
rs1455700210
|
|
|
NM_000147.5(FUCA1):c.324G>T (p.Pro108=)
|
|
|
|
NM_000147.5(FUCA1):c.33G>T (p.Ala11=)
|
|
|
|
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
|
rs1639658693
|
|
|
NM_000147.5(FUCA1):c.345C>T (p.Phe115=)
|
|
|
|
NM_000147.5(FUCA1):c.351G>T (p.Pro117=)
|
|
|
|
NM_000147.5(FUCA1):c.355_364del (p.Glu119fs)
|
|
|
|
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys)
|
rs758745364
|
|
|
NM_000147.5(FUCA1):c.375G>A (p.Gln125=)
|
|
|
|
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)
|
rs780117609
|
|
|
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
|
|
|
|
NM_000147.5(FUCA1):c.389+13C>A
|
|
|
|
NM_000147.5(FUCA1):c.389+14C>G
|
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
|
NM_000147.5(FUCA1):c.389+18G>A
|
|
|
|
NM_000147.5(FUCA1):c.389+18del
|
|
|
|
NM_000147.5(FUCA1):c.389+20G>A
|
|
|
|
NM_000147.5(FUCA1):c.389+4A>C
|
|
|
|
NM_000147.5(FUCA1):c.389+6T>C
|
rs577790391
|
|
|
NM_000147.5(FUCA1):c.390-11G>C
|
|
|
|
NM_000147.5(FUCA1):c.390-6C>T
|
|
|
|
NM_000147.5(FUCA1):c.390-95_768+150del
|
|
|
|
NM_000147.5(FUCA1):c.390-9T>C
|
|
|
|
NM_000147.5(FUCA1):c.393T>A (p.Tyr131Ter)
|
rs781230182
|
|
|
NM_000147.5(FUCA1):c.393T>C (p.Tyr131=)
|
|
|
|
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)
|
|
|
|
NM_000147.5(FUCA1):c.402G>A (p.Leu134=)
|
|
|
|
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
|
rs779017131
|
|
|
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg)
|
rs779017131
|
|
|
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)
|
|
|
|
NM_000147.5(FUCA1):c.417C>T (p.His139=)
|
|
|
|
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
|
rs1639606764
|
|
|
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)
|
|
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
|
NM_000147.5(FUCA1):c.423C>T (p.Gly141=)
|
|
|
|
NM_000147.5(FUCA1):c.42G>A (p.Ala14=)
|
|
|
|
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)
|
|
|
|
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu)
|
rs2228424
|
|
|
NM_000147.5(FUCA1):c.437del (p.Pro146fs)
|
|
|
|
NM_000147.5(FUCA1):c.459G>A (p.Trp153Ter)
|
|
|
|
NM_000147.5(FUCA1):c.45G>A (p.Leu15=)
|
|
|
|
NM_000147.5(FUCA1):c.460_475del (p.Asn154fs)
|
|
|
|
NM_000147.5(FUCA1):c.462C>T (p.Asn154=)
|
|
|
|
NM_000147.5(FUCA1):c.464C>T (p.Ser155Phe)
|
rs587779398
|
|
|
NM_000147.5(FUCA1):c.46T>C (p.Leu16=)
|
|
|
|
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
|
|
|
|
NM_000147.5(FUCA1):c.471C>T (p.Asp157=)
|
|
|
|
NM_000147.5(FUCA1):c.474G>A (p.Val158=)
|
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
|
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup)
|
rs756742678
|
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
|
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly)
|
rs2070955
|
|
|
NM_000147.5(FUCA1):c.516C>G (p.Leu172=)
|
|
|
|
NM_000147.5(FUCA1):c.519G>A (p.Arg173=)
|
|
|
|
NM_000147.5(FUCA1):c.51G>A (p.Leu17=)
|
|
|
|
NM_000147.5(FUCA1):c.524+12G>C
|
|
|
|
NM_000147.5(FUCA1):c.524+14G>A
|
|
|
|
NM_000147.5(FUCA1):c.524+17G>T
|
|
|
|
NM_000147.5(FUCA1):c.524+18G>T
|
rs2148449061
|
|
|
NM_000147.5(FUCA1):c.524+4_524+5del
|
rs1158652644
|
|
|
NM_000147.5(FUCA1):c.524+7G>A
|
|
|
|
NM_000147.5(FUCA1):c.524+9C>T
|
|
|
|
NM_000147.5(FUCA1):c.525-13T>C
|
|
|
|
NM_000147.5(FUCA1):c.525-15_525-14del
|
|
|
|
NM_000147.5(FUCA1):c.525-19TTCTGTTT[3]
|
rs864309552
|
|
|
NM_000147.5(FUCA1):c.525-20G>A
|
|
|
|
NM_000147.5(FUCA1):c.525-7G>C
|
|
|
|
NM_000147.5(FUCA1):c.525-9_525-5del
|
rs759886522
|
|
|
NM_000147.5(FUCA1):c.541C>T (p.Leu181=)
|
rs760734726
|
|
|
NM_000147.5(FUCA1):c.543A>G (p.Leu181=)
|
|
|
|
NM_000147.5(FUCA1):c.54G>A (p.Leu18=)
|
|
|
|
NM_000147.5(FUCA1):c.557T>A (p.Leu186Ter)
|
|
|
|
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
|
|
|
|
NM_000147.5(FUCA1):c.563G>A (p.Trp188Ter)
|
|
|
|
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter)
|
rs189315801
|
|
|
NM_000147.5(FUCA1):c.573A>G (p.Pro191=)
|
|
|
|
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val)
|
rs2148447710
|
|
|
NM_000147.5(FUCA1):c.577dup (p.Tyr193fs)
|
|
|
|
NM_000147.5(FUCA1):c.579T>A (p.Tyr193Ter)
|
|
|
|
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
|
rs1639545879
|
|
|
NM_000147.5(FUCA1):c.585T>G (p.Leu195=)
|
|
|
|
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
|
|
|
|
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
|
|
|
|
NM_000147.5(FUCA1):c.607del (p.Thr203fs)
|
|
|
|
NM_000147.5(FUCA1):c.609A>G (p.Thr203=)
|
|
|
|
NM_000147.5(FUCA1):c.610_614del (p.Gln204fs)
|
|
|
|
NM_000147.5(FUCA1):c.614A>G (p.His205Arg)
|
rs2148447684
|
|
|
NM_000147.5(FUCA1):c.648C>A (p.Tyr216Ter)
|
rs80358198
|
|
|
NM_000147.5(FUCA1):c.654T>C (p.Leu218=)
|
|
|
|
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
|
|
|
|
NM_000147.5(FUCA1):c.657T>C (p.Val219=)
|
|
|
|
NM_000147.5(FUCA1):c.661del (p.Ser221fs)
|
|
|
|
NM_000147.5(FUCA1):c.662+10T>A
|
|
|
|
NM_000147.5(FUCA1):c.662+12A>G
|
|
|
|
NM_000147.5(FUCA1):c.662+3A>G
|
|
|
|
NM_000147.5(FUCA1):c.662+5G>C
|
rs941666554
|
|
|
NM_000147.5(FUCA1):c.662_662+8del
|
rs766794815
|
|
|
NM_000147.5(FUCA1):c.663-11_663-10del
|
|
|
|
NM_000147.5(FUCA1):c.663-3C>T
|
|
|
|
NM_000147.5(FUCA1):c.66C>T (p.Leu22=)
|
|
|
|
NM_000147.5(FUCA1):c.671del (p.Pro224fs)
|
rs2148446020
|
|
|
NM_000147.5(FUCA1):c.679_683del (p.Ile227fs)
|
|
|
|
NM_000147.5(FUCA1):c.679_683dup (p.Trp228Ter)
|
|
|
|
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
|
rs1639470403
|
|
|
NM_000147.5(FUCA1):c.698G>A (p.Trp233Ter)
|
|
|
|
NM_000147.5(FUCA1):c.699G>A (p.Trp233Ter)
|
|
|
|
NM_000147.5(FUCA1):c.6G>C (p.Arg2=)
|
|
|
|
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
|
|
|
|
NM_000147.5(FUCA1):c.729A>G (p.Thr243=)
|
|
|
|
NM_000147.5(FUCA1):c.72G>A (p.Ala24=)
|
|
|
|
NM_000147.5(FUCA1):c.738T>G (p.Leu246=)
|
|
|
|
NM_000147.5(FUCA1):c.750C>T (p.Tyr250=)
|
|
|
|
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly)
|
rs779515820
|
|
|
NM_000147.5(FUCA1):c.768+19T>A
|
|
|
|
NM_000147.5(FUCA1):c.768+1G>A
|
rs1639468949
|
|
|
NM_000147.5(FUCA1):c.768+1G>T
|
|
|
|
NM_000147.5(FUCA1):c.768+8A>G
|
rs752291671
|
|
|
NM_000147.5(FUCA1):c.769-14C>A
|
|
|
|
NM_000147.5(FUCA1):c.769-18T>C
|
|
|
|
NM_000147.5(FUCA1):c.769-2A>C
|
|
|
|
NM_000147.5(FUCA1):c.769-4T>C
|
|
|
|
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
|
|
|
|
NM_000147.5(FUCA1):c.777G>A (p.Val259=)
|
|
|
|
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
|
|
|
|
NM_000147.5(FUCA1):c.783A>G (p.Val261=)
|
|
|
|
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr)
|
rs61996282
|
|
|
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro)
|
rs61996282
|
|
|
NM_000147.5(FUCA1):c.7del (p.Ala3fs)
|
rs1639669672
|
|
|
NM_000147.5(FUCA1):c.80C>A (p.Ser27Ter)
|
|
|
|
NM_000147.5(FUCA1):c.810del (p.Cys271fs)
|
rs1557510081
|
|
|
NM_000147.5(FUCA1):c.81G>C (p.Ser27=)
|
|
|
|
NM_000147.5(FUCA1):c.82del (p.Val28fs)
|
rs1639666186
|
|
|
NM_000147.5(FUCA1):c.843T>C (p.Asp281=)
|
|
|
|
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu)
|
rs754452752
|
|
|
NM_000147.5(FUCA1):c.84G>T (p.Val28=)
|
|
|
|
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
|
|
|
|
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
|
rs1639666097
|
|
|
NM_000147.5(FUCA1):c.871C>G (p.His291Asp)
|
rs2148442832
|
|
|
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
|
|
|
|
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
|
|
|
|
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
|
|
|
|
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg)
|
rs2148442806
|
|
|
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
|
|
|
|
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe)
|
rs749790121
|
|
|
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr)
|
rs774539460
|
|
|
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
|
|
|
|
NM_000147.5(FUCA1):c.933A>G (p.Ala311=)
|
|
|
|
NM_000147.5(FUCA1):c.93C>T (p.Ala31=)
|
|
|
|
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile)
|
rs746590345
|
|
|
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
|
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
|
NM_000147.5(FUCA1):c.954A>G (p.Glu318=)
|
|
|
|
NM_000147.5(FUCA1):c.969+11C>A
|
rs2148442736
|
|
|
NM_000147.5(FUCA1):c.969+15G>A
|
|
|
|
NM_000147.5(FUCA1):c.969+1G>A
|
rs1570679652
|
|
|
NM_000147.5(FUCA1):c.969+1G>T
|
|
|
|
NM_000147.5(FUCA1):c.969+5G>A
|
|
|
|
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
|
|
|
|
NM_000147.5(FUCA1):c.970-12T>C
|
|
|
|
NM_000147.5(FUCA1):c.970-17G>A
|
|
|
|
NM_000147.5(FUCA1):c.970-18T>C
|
|
|
|
NM_000147.5(FUCA1):c.970-6C>T
|
|
|
|
NM_000147.5(FUCA1):c.970-7T>C
|
|
|
|
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
|
|
|
|
NM_000147.5(FUCA1):c.995G>A (p.Gly332Glu)
|
rs1177361428
|
|
|
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)
|
|
|
|
NM_000147.5(FUCA1):c.9T>C (p.Ala3=)
|
|
|
|
NM_000151.4(G6PC1):c.*1227dup
|
rs397735497
|
|
|
NM_000151.4(G6PC1):c.*1458C>T
|
rs2056105397
|
|
|
NM_000151.4(G6PC1):c.*1466T>C
|
rs2056105442
|
|
|
NM_000151.4(G6PC1):c.*1514G>A
|
rs111309126
|
|
|
NM_000151.4(G6PC1):c.*1527C>T
|
rs966575521
|
|
|
NM_000151.4(G6PC1):c.*1545TTTTAGAA[1]
|
rs397717945
|
|
|
NM_000151.4(G6PC1):c.*1550G>T
|
rs1324359967
|
|
|
NM_000151.4(G6PC1):c.*1552A>T
|
rs138968865
|
|
|
NM_000151.4(G6PC1):c.*1640G>T
|
rs556943624
|
|
|
NM_000151.4(G6PC1):c.*1901A>G
|
rs2056108046
|
|
|
NM_000151.4(G6PC1):c.*2081T>A
|
rs2056108904
|
|
|
NM_000151.4(G6PC1):c.*2501C>G
|
rs886052964
|
|
|
NM_000151.4(G6PC1):c.*2519G>T
|
rs886052965
|
|
|
NM_000151.4(G6PC1):c.*251C>T
|
rs753206089
|
|
|
NM_000151.4(G6PC1):c.*2611C>T
|
rs186556135
|
|
|
NM_000151.4(G6PC1):c.*2687del
|
rs113390675
|
|
|
NM_000151.4(G6PC1):c.*2857C>T
|
rs2056113291
|
|
|
NM_000151.4(G6PC1):c.*286A>G
|
rs886052959
|
|
|
NM_000151.4(G6PC1):c.*2980A>G
|
rs2056113916
|
|
|
NM_000151.4(G6PC1):c.*492A>C
|
rs532485841
|
|
|
NM_000151.4(G6PC1):c.*703G>A
|
rs375295552
|
|
|
NM_000151.4(G6PC1):c.*714A>G
|
rs886052961
|
|
|
NM_000151.4(G6PC1):c.*887T>C
|
rs2056101326
|
|
|
NM_000151.4(G6PC1):c.1003C>T (p.Leu335=)
|
|
|
|
NM_000151.4(G6PC1):c.1004del (p.Leu335fs)
|
|
|
|
NM_000151.4(G6PC1):c.1005G>A (p.Leu335=)
|
|
|
|
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
|
rs2056095097
|
|
|
NM_000151.4(G6PC1):c.1008A>G (p.Ala336=)
|
|
|
|
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile)
|
rs367727229
|
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
|
NM_000151.4(G6PC1):c.1014C>T (p.Val338=)
|
rs2151932415
|
|
|
NM_000151.4(G6PC1):c.1018_1026del (p.Val340_Pro342del)
|
rs1200748845
|
|
|
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)
|
rs1555560204
|
|
|
NM_000151.4(G6PC1):c.1020C>T (p.Val340=)
|
|
|
|
NM_000151.4(G6PC1):c.1023C>A (p.Ile341=)
|
rs2056095309
|
|
|
NM_000151.4(G6PC1):c.1023C>T (p.Ile341=)
|
|
|
|
NM_000151.4(G6PC1):c.1035C>A (p.Leu345=)
|
|
|
|
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)
|
|
|
|
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val)
|
|
|
|
NM_000151.4(G6PC1):c.103G>A (p.Val35Met)
|
|
|
|
NM_000151.4(G6PC1):c.1042del (p.Val348fs)
|
|
|
|
NM_000151.4(G6PC1):c.1044C>G (p.Val348=)
|
rs975072899
|
|
|
NM_000151.4(G6PC1):c.1047G>T (p.Leu349=)
|
rs1209679697
|
|
|
NM_000151.4(G6PC1):c.1050C>A (p.Gly350=)
|
rs2151932440
|
|
|
NM_000151.4(G6PC1):c.1051C>T (p.Gln351Ter)
|
rs766448695
|
|
|
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu)
|
|
|
|
NM_000151.4(G6PC1):c.1056G>C (p.Pro352=)
|
|
|
|
NM_000151.4(G6PC1):c.1056G>T (p.Pro352=)
|
|
|
|
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg)
|
|
|
|
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
|
rs746978011
|
|
|
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
|
|
|
|
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter)
|
rs1555560217
|
|
|
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del)
|
|
|
|
NM_000151.4(G6PC1):c.114C>T (p.Asp38=)
|
rs2151929114
|
|
|
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)
|
|
|
|
NM_000151.4(G6PC1):c.126C>A (p.Ala42=)
|
|
|
|
NM_000151.4(G6PC1):c.126C>T (p.Ala42=)
|
|
|
|
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)
|
|
|
|
NM_000151.4(G6PC1):c.132C>G (p.Tyr44Ter)
|
|
|
|
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
|
rs145749644
|
|
|
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)
|
|
|
|
NM_000151.4(G6PC1):c.135C>A (p.Val45=)
|
|
|
|
NM_000151.4(G6PC1):c.136del (p.Leu46fs)
|
rs1057517227
|
|
|
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)
|
|
|
|
NM_000151.4(G6PC1):c.141C>T (p.Phe47=)
|
rs1597986869
|
|
|
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)
|
|
|
|
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
|
rs2151929134
|
|
|
NM_000151.4(G6PC1):c.147C>T (p.Ile49=)
|
|
|
|
NM_000151.4(G6PC1):c.14T>A (p.Met5Lys)
|
|
|
|
NM_000151.4(G6PC1):c.150_151del (p.Trp50fs)
|
rs1057516674
|
|
|
NM_000151.4(G6PC1):c.155A>T (p.His52Leu)
|
|
|
|
NM_000151.4(G6PC1):c.156T>C (p.His52=)
|
|
|
|
NM_000151.4(G6PC1):c.15G>A (p.Met5Ile)
|
|
|
|
NM_000151.4(G6PC1):c.15G>C (p.Met5Ile)
|
|
|
|
NM_000151.4(G6PC1):c.15G>T (p.Met5Ile)
|
|
|
|
NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)
|
rs2151929143
|
|
|
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)
|
|
|
|
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)
|
|
|
|
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)
|
|
|
|
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys)
|
rs144652516
|
|
|
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro)
|
rs369472089
|
|
|
NM_000151.4(G6PC1):c.195T>A (p.Ala65=)
|
|
|
|
NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)
|
rs1567702819
|
|
|
NM_000151.4(G6PC1):c.208del (p.Trp70fs)
|
rs2056023141
|
|
|
NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser)
|
rs1567702823
|
|
|
NM_000151.4(G6PC1):c.211del (p.Leu71fs)
|
|
|
|
NM_000151.4(G6PC1):c.216C>T (p.Asn72=)
|
rs2151929168
|
|
|
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
|
rs373545775
|
|
|
NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn)
|
rs2056023296
|
|
|
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
|
rs104894566
|
|
|
NM_000151.4(G6PC1):c.230+10A>G
|
|
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
|
NM_000151.4(G6PC1):c.230+13T>C
|
|
|
|
NM_000151.4(G6PC1):c.230+14A>G
|
rs780134732
|
|
|
NM_000151.4(G6PC1):c.230+16A>G
|
|
|
|
NM_000151.4(G6PC1):c.230+1G>C
|
rs863224023
|
|
|
NM_000151.4(G6PC1):c.230+1G>T
|
|
|
|
NM_000151.4(G6PC1):c.230+4A>G
|
rs587776757
|
|
|
NM_000151.4(G6PC1):c.230+8C>T
|
|
|
|
NM_000151.4(G6PC1):c.230+9C>A
|
|
|
|
NM_000151.4(G6PC1):c.231-10T>C
|
|
|
|
NM_000151.4(G6PC1):c.231-15T>C
|
|
|
|
NM_000151.4(G6PC1):c.231-17G>T
|
|
|
|
NM_000151.4(G6PC1):c.231-20C>G
|
|
|
|
NM_000151.4(G6PC1):c.231-4A>G
|
rs1200297208
|
|
|
NM_000151.4(G6PC1):c.231-5C>T
|
rs1332657768
|
|
|
NM_000151.4(G6PC1):c.231-7T>C
|
|
|
|
NM_000151.4(G6PC1):c.231-8T>A
|
rs2151929984
|
|
|
NM_000151.4(G6PC1):c.231G>A (p.Trp77Ter)
|
|
|
|
NM_000151.4(G6PC1):c.234T>C (p.Ile78=)
|
|
|
|
NM_000151.4(G6PC1):c.238T>A (p.Phe80Ile)
|
|
|
|
NM_000151.4(G6PC1):c.239T>C (p.Phe80Ser)
|
|
|
|
NM_000151.4(G6PC1):c.240T>C (p.Phe80=)
|
|
|
|
NM_000151.4(G6PC1):c.241G>A (p.Gly81Arg)
|
rs756632286
|
|
|
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
|
rs1026799180
|
|
|
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
|
|
|
|
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)
|
|
|
|
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
|
rs148967047
|
|
|
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)
|
rs748363083
|
|
|
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
|
rs748363083
|
|
|
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
|
rs2056043139
|
|
|
NM_000151.4(G6PC1):c.258G>A (p.Trp86Ter)
|
rs142917638
|
|
|
NM_000151.4(G6PC1):c.261G>A (p.Trp87Ter)
|
|
|
|
NM_000151.4(G6PC1):c.262del (p.Val88fs)
|
rs755612674
|
|
|
NM_000151.4(G6PC1):c.267_268delinsC (p.Leu89fs)
|
|
|
|
NM_000151.4(G6PC1):c.269A>G (p.Asp90Gly)
|
|
|
|
NM_000151.4(G6PC1):c.273T>G (p.Thr91=)
|
rs2151930014
|
|
|
NM_000151.4(G6PC1):c.278del (p.Tyr93fs)
|
|
|
|
NM_000151.4(G6PC1):c.279C>A (p.Tyr93Ter)
|
|
|
|
NM_000151.4(G6PC1):c.27T>A (p.His9Gln)
|
|
|
|
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
|
rs1344809349
|
|
|
NM_000151.4(G6PC1):c.295G>A (p.Val99Met)
|
|
|
|
NM_000151.4(G6PC1):c.297G>A (p.Val99=)
|
|
|
|
NM_000151.4(G6PC1):c.297G>T (p.Val99=)
|
|
|
|
NM_000151.4(G6PC1):c.302del (p.Leu101fs)
|
rs2151930031
|
|
|
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
|
|
|
|
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)
|
rs2056043532
|
|
|
NM_000151.4(G6PC1):c.315C>T (p.Phe105=)
|
rs2151930034
|
|
|
NM_000151.4(G6PC1):c.323C>T (p.Thr108Ile)
|
rs1597988331
|
|
|
NM_000151.4(G6PC1):c.324del (p.Cys109fs)
|
rs2151930039
|
|
|
NM_000151.4(G6PC1):c.325T>C (p.Cys109Arg)
|
|
|
|
NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_000151.4(G6PC1):c.340+10C>T
|
|
|
|
NM_000151.4(G6PC1):c.340+14C>T
|
|
|
|
NM_000151.4(G6PC1):c.340+7G>C
|
|
|
|
NM_000151.4(G6PC1):c.340+7G>T
|
rs570199529
|
|
|
NM_000151.4(G6PC1):c.340+8T>A
|
|
|
|
NM_000151.4(G6PC1):c.340+9C>T
|
|
|
|
NM_000151.4(G6PC1):c.341-18C>A
|
|
|
|
NM_000151.4(G6PC1):c.341-6C>T
|
|
|
|
NM_000151.4(G6PC1):c.341-7_356del
|
|
|
|
NM_000151.4(G6PC1):c.341-8C>A
|
|
|
|
NM_000151.4(G6PC1):c.341-8C>G
|
|
|
|
NM_000151.4(G6PC1):c.341-8C>T
|
|
|
|
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu)
|
rs544563908
|
|
|
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
|
rs544563908
|
|
|
NM_000151.4(G6PC1):c.342G>T (p.Gly114=)
|
|
|
|
NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser)
|
rs761007323
|
|
|
NM_000151.4(G6PC1):c.354C>T (p.Gly118=)
|
|
|
|
NM_000151.4(G6PC1):c.355C>G (p.His119Asp)
|
rs1332616844
|
|
|
NM_000151.4(G6PC1):c.356A>T (p.His119Leu)
|
rs1401928680
|
|
|
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
|
rs2151931156
|
|
|
NM_000151.4(G6PC1):c.361A>G (p.Met121Val)
|
rs1555559733
|
|
|
NM_000151.4(G6PC1):c.362T>C (p.Met121Thr)
|
|
|
|
NM_000151.4(G6PC1):c.365G>T (p.Gly122Val)
|
rs759982943
|
|
|
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
|
rs765306500
|
|
|
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
|
rs765306500
|
|
|
NM_000151.4(G6PC1):c.369A>G (p.Thr123=)
|
|
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
|
NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)
|
rs1555559741
|
|
|
NM_000151.4(G6PC1):c.381C>T (p.Tyr127=)
|
rs1555559741
|
|
|
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys)
|
rs2056069622
|
|
|
NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter)
|
rs764401169
|
|
|
NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter)
|
rs2056069710
|
|
|
NM_000151.4(G6PC1):c.388_400del (p.Met130fs)
|
rs1567705064
|
|
|
NM_000151.4(G6PC1):c.395C>T (p.Thr132Ile)
|
|
|
|
NM_000151.4(G6PC1):c.396A>G (p.Thr132=)
|
|
|
|
NM_000151.4(G6PC1):c.399T>C (p.Ser133=)
|
|
|
|
NM_000151.4(G6PC1):c.402T>C (p.Thr134=)
|
rs2151931180
|
|
|
NM_000151.4(G6PC1):c.403_404del (p.Leu135fs)
|
rs2151931178
|
|
|
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
|
rs2151931181
|
|
|
NM_000151.4(G6PC1):c.408C>T (p.Ser136=)
|
|
|
|
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
|
rs763922040
|
|
|
NM_000151.4(G6PC1):c.432G>C (p.Pro144=)
|
|
|
|
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
|
rs745770086
|
|
|
NM_000151.4(G6PC1):c.435C>T (p.Thr145=)
|
|
|
|
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys)
|
|
|
|
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp)
|
|
|
|
NM_000151.4(G6PC1):c.446+17G>A
|
|
|
|
NM_000151.4(G6PC1):c.446+19G>A
|
|
|
|
NM_000151.4(G6PC1):c.446+19G>T
|
|
|
|
NM_000151.4(G6PC1):c.446+1G>C
|
rs1597989983
|
|
|
NM_000151.4(G6PC1):c.446+20G>A
|
|
|
|
NM_000151.4(G6PC1):c.446+20G>T
|
|
|
|
NM_000151.4(G6PC1):c.446+2T>C
|
rs1597989985
|
|
|
NM_000151.4(G6PC1):c.446+7A>C
|
rs1003569893
|
|
|
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)
|
|
|
|
NM_000151.4(G6PC1):c.447-1G>C
|
|
|
|
NM_000151.4(G6PC1):c.447-6T>C
|
rs1597990833
|
|
|
NM_000151.4(G6PC1):c.450C>T (p.Cys150=)
|
|
|
|
NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer)
|
rs2151931733
|
|
|
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
|
rs1271832382
|
|
|
NM_000151.4(G6PC1):c.459C>T (p.Val153=)
|
rs747740866
|
|
|
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
|
rs1394010585
|
|
|
NM_000151.4(G6PC1):c.462_466del (p.Ile154fs)
|
|
|
|
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)
|
rs1189630738
|
|
|
NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter)
|
rs2056081389
|
|
|
NM_000151.4(G6PC1):c.469T>C (p.Leu157=)
|
|
|
|
NM_000151.4(G6PC1):c.471G>A (p.Leu157=)
|
|
|
|
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu)
|
rs2151931742
|
|
|
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
|
rs2056081522
|
|
|
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg)
|
rs1555558914
|
|
|
NM_000151.4(G6PC1):c.480G>A (p.Trp160Ter)
|
|
|
|
NM_000151.4(G6PC1):c.486G>A (p.Val162=)
|
|
|
|
NM_000151.4(G6PC1):c.48A>C (p.Thr16=)
|
|
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
|
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)
|
rs104894571
|
|
|
NM_000151.4(G6PC1):c.499dup (p.Cys167fs)
|
rs1057516630
|
|
|
NM_000151.4(G6PC1):c.503_506dup (p.Arg170fs)
|
rs2151931748
|
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
|
NM_000151.4(G6PC1):c.511del (p.Ile171fs)
|
rs1597990895
|
|
|
NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter)
|
rs1555559991
|
|
|
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)
|
rs1597990906
|
|
|
NM_000151.4(G6PC1):c.52_67dup (p.Tyr23fs)
|
rs1555558920
|
|
|
NM_000151.4(G6PC1):c.532C>G (p.Pro178Ala)
|
|
|
|
NM_000151.4(G6PC1):c.534T>C (p.Pro178=)
|
rs774585761
|
|
|
NM_000151.4(G6PC1):c.538C>T (p.Gln180Ter)
|
rs1597990921
|
|
|
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
|
rs375921716
|
|
|
NM_000151.4(G6PC1):c.549dup (p.Gly184fs)
|
rs2151931799
|
|
|
NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)
|
rs1414234636
|
|
|
NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter)
|
rs2056082144
|
|
|
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)
|
rs104894569
|
|
|
NM_000151.4(G6PC1):c.551G>T (p.Gly184Val)
|
rs104894569
|
|
|
NM_000151.4(G6PC1):c.560C>G (p.Ser187Ter)
|
rs1485038937
|
|
|
NM_000151.4(G6PC1):c.562+11A>C
|
|
|
|
NM_000151.4(G6PC1):c.562+19C>T
|
|
|
|
NM_000151.4(G6PC1):c.562+25_562+28del
|
|
|
|
NM_000151.4(G6PC1):c.562+4T>A
|
|
|
|
NM_000151.4(G6PC1):c.562+9T>C
|
rs1263744036
|
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
|
NM_000151.4(G6PC1):c.563-18A>G
|
|
|
|
NM_000151.4(G6PC1):c.563-18A>T
|
|
|
|
NM_000151.4(G6PC1):c.563-3C>G
|
rs1597991608
|
|
|
NM_000151.4(G6PC1):c.563-3C>T
|
rs1597991608
|
|
|
NM_000151.4(G6PC1):c.563-5C>T
|
rs1246163955
|
|
|
NM_000151.4(G6PC1):c.563-8C>T
|
|
|
|
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)
|
|
|
|
NM_000151.4(G6PC1):c.570T>C (p.Ala190=)
|
rs753671536
|
|
|
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln)
|
rs886052956
|
|
|
NM_000151.4(G6PC1):c.57C>T (p.Leu19=)
|
|
|
|
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
|
rs1597991619
|
|
|
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)
|
rs2151932243
|
|
|
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
|
rs2056021410
|
|
|
NM_000151.4(G6PC1):c.600C>T (p.Ser200=)
|
rs2151932246
|
|
|
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=)
|
rs1555560103
|
|
|
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
|
rs2056021430
|
|
|
NM_000151.4(G6PC1):c.626A>G (p.Tyr209Cys)
|
rs2056091436
|
|
|
NM_000151.4(G6PC1):c.633C>T (p.Leu211=)
|
|
|
|
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
|
rs756944737
|
|
|
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe)
|
rs756944737
|
|
|
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile)
|
rs201649392
|
|
|
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
|
rs780212338
|
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
|
NM_000151.4(G6PC1):c.662dup (p.Gly222fs)
|
|
|
|
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
|
rs747134498
|
|
|
NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg)
|
rs1410392732
|
|
|
NM_000151.4(G6PC1):c.665G>A (p.Gly222Glu)
|
rs515726229
|
|
|
NM_000151.4(G6PC1):c.673C>T (p.Leu225=)
|
|
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
|
NM_000151.4(G6PC1):c.678G>C (p.Leu226=)
|
|
|
|
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg)
|
|
|
|
NM_000151.4(G6PC1):c.693T>C (p.Gly231=)
|
|
|
|
NM_000151.4(G6PC1):c.69C>G (p.Tyr23Ter)
|
|
|
|
NM_000151.4(G6PC1):c.69C>T (p.Tyr23=)
|
|
|
|
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys)
|
rs2151929052
|
|
|
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
|
rs1356828030
|
|
|
NM_000151.4(G6PC1):c.702C>T (p.Leu234=)
|
|
|
|
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
|
rs1233768137
|
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
|
NM_000151.4(G6PC1):c.706T>G (p.Trp236Gly)
|
|
|
|
NM_000151.4(G6PC1):c.707G>A (p.Trp236Ter)
|
rs1457925404
|
|
|
NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)
|
rs2151932291
|
|
|
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)
|
rs2151929089
|
|
|
NM_000151.4(G6PC1):c.729G>A (p.Arg243=)
|
|
|
|
NM_000151.4(G6PC1):c.731G>A (p.Trp244Ter)
|
rs1555560140
|
|
|
NM_000151.4(G6PC1):c.732G>A (p.Trp244Ter)
|
|
|
|
NM_000151.4(G6PC1):c.735C>A (p.Cys245Ter)
|
|
|
|
NM_000151.4(G6PC1):c.735C>T (p.Cys245=)
|
|
|
|
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_000151.4(G6PC1):c.742_745del (p.Pro248fs)
|
|
|
|
NM_000151.4(G6PC1):c.747A>G (p.Glu249=)
|
|
|
|
NM_000151.4(G6PC1):c.750G>A (p.Trp250Ter)
|
rs140869027
|
|
|
NM_000151.4(G6PC1):c.753C>A (p.Val251=)
|
rs1422424986
|
|
|
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
|
rs1422424986
|
|
|
NM_000151.4(G6PC1):c.762C>T (p.Asp254=)
|
|
|
|
NM_000151.4(G6PC1):c.764C>A (p.Thr255Asn)
|
|
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
|
NM_000151.4(G6PC1):c.765C>T (p.Thr255=)
|
rs1555560144
|
|
|
NM_000151.4(G6PC1):c.770C>A (p.Pro257His)
|
rs1597991733
|
|
|
NM_000151.4(G6PC1):c.771C>T (p.Pro257=)
|
|
|
|
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg)
|
rs748610705
|
|
|
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del)
|
rs1305819623
|
|
|
NM_000151.4(G6PC1):c.783C>T (p.Leu261=)
|
|
|
|
NM_000151.4(G6PC1):c.786C>G (p.Leu262=)
|
|
|
|
NM_000151.4(G6PC1):c.788del (p.Lys263fs)
|
|
|
|
NM_000151.4(G6PC1):c.789G>A (p.Lys263=)
|
|
|
|
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)
|
rs1555560149
|
|
|
NM_000151.4(G6PC1):c.792C>G (p.Asn264Lys)
|
rs1555560149
|
|
|
NM_000151.4(G6PC1):c.792C>T (p.Asn264=)
|
|
|
|
NM_000151.4(G6PC1):c.796G>A (p.Gly266Ser)
|
rs2151932313
|
|
|
NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter)
|
rs1057516367
|
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
|
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg)
|
|
|
|
NM_000151.4(G6PC1):c.801G>T (p.Thr267=)
|
rs755630386
|
|
|
NM_000151.4(G6PC1):c.809G>A (p.Gly270Asp)
|
|
|
|
NM_000151.4(G6PC1):c.810C>G (p.Gly270=)
|
|
|
|
NM_000151.4(G6PC1):c.811C>T (p.Leu271=)
|
rs2151932325
|
|
|
NM_000151.4(G6PC1):c.813G>C (p.Leu271=)
|
|
|
|
NM_000151.4(G6PC1):c.816G>A (p.Gly272=)
|
|
|
|
NM_000151.4(G6PC1):c.816G>T (p.Gly272=)
|
rs762728678
|
|
|
NM_000151.4(G6PC1):c.820G>A (p.Ala274Thr)
|
rs764084156
|
|
|
NM_000151.4(G6PC1):c.826_830del (p.Asn276fs)
|
|
|
|
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr)
|
|
|
|
NM_000151.4(G6PC1):c.846G>A (p.Glu282=)
|
rs374980545
|
|
|
NM_000151.4(G6PC1):c.855G>A (p.Lys285=)
|
|
|
|
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg)
|
|
|
|
NM_000151.4(G6PC1):c.858del (p.Lys287fs)
|
rs1057516858
|
|
|
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)
|
|
|
|
NM_000151.4(G6PC1):c.891C>T (p.Ser297=)
|
|
|
|
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr)
|
|
|
|
NM_000151.4(G6PC1):c.903C>T (p.Ala301=)
|
|
|
|
NM_000151.4(G6PC1):c.909C>G (p.Leu303=)
|
|
|
|
NM_000151.4(G6PC1):c.918G>A (p.Leu306=)
|
|
|
|
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)
|
|
|
|
NM_000151.4(G6PC1):c.927T>C (p.Phe309=)
|
|
|
|
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn)
|
|
|
|
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn)
|
rs538960604
|
|
|
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
|
rs1454392916
|
|
|
NM_000151.4(G6PC1):c.93C>T (p.Ile31=)
|
|
|
|
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu)
|
|
|
|
NM_000151.4(G6PC1):c.945A>G (p.Pro315=)
|
rs2056094359
|
|
|
NM_000151.4(G6PC1):c.948C>T (p.Ser316=)
|
|
|
|
NM_000151.4(G6PC1):c.94T>C (p.Leu32=)
|
rs1185147855
|
|
|
NM_000151.4(G6PC1):c.952_953insGT (p.Val318fs)
|
rs1555560185
|
|
|
NM_000151.4(G6PC1):c.954C>A (p.Val318=)
|
|
|
|
NM_000151.4(G6PC1):c.954C>T (p.Val318=)
|
rs372612424
|
|
|
NM_000151.4(G6PC1):c.957G>A (p.Glu319=)
|
|
|
|
NM_000151.4(G6PC1):c.960G>A (p.Leu320=)
|
|
|
|
NM_000151.4(G6PC1):c.964T>C (p.Phe322Leu)
|
|
|
|
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)
|
rs1567706564
|
|
|
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)
|
rs863224022
|
|
|
NM_000151.4(G6PC1):c.966C>A (p.Phe322Leu)
|
|
|
|
NM_000151.4(G6PC1):c.966C>T (p.Phe322=)
|
rs1399520060
|
|
|
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter)
|
rs780226142
|
|
|
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)
|
|
|
|
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)
|
|
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
|
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)
|
|
|
|
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg)
|
rs748053431
|
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
|
NM_000151.4(G6PC1):c.999G>A (p.Val333=)
|
rs2151932408
|
|
|
NM_000151.4(G6PC1):c.9A>G (p.Glu3=)
|
rs2151929054
|
|
|
NM_000152.5(GAA):c.*128T>C
|
rs886053549
|
|
|
NM_000152.5(GAA):c.*219G>A
|
rs1216535924
|
|
|
NM_000152.5(GAA):c.*309C>T
|
rs886053550
|
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
|
NM_000152.5(GAA):c.*82C>T
|
rs745999686
|
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
|
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
|
|
|
|
NM_000152.5(GAA):c.-32-1G>C
|
rs1555598460
|
|
|
NM_000152.5(GAA):c.-32-2A>G
|
rs1445232530
|
|
|
NM_000152.5(GAA):c.-32-385_143del
|
|
|
|
NM_000152.5(GAA):c.-32-3C>A
|
rs1055945806
|
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
|
NM_000152.5(GAA):c.-325C>T
|
rs1402918119
|
|
|
NM_000152.5(GAA):c.-75C>G
|
rs80020206
|
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
|
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp)
|
rs2039143109
|
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
|
NM_000152.5(GAA):c.1003G>T (p.Gly335Trp)
|
rs202095215
|
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
|
NM_000152.5(GAA):c.1005G>A (p.Gly335=)
|
rs1598576696
|
|
|
NM_000152.5(GAA):c.1005G>C (p.Gly335=)
|
|
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
|
NM_000152.5(GAA):c.1008C>A (p.Ile336=)
|
rs994615279
|
|
|
NM_000152.5(GAA):c.1008C>T (p.Ile336=)
|
|
|
|
NM_000152.5(GAA):c.1009C>T (p.Leu337=)
|
rs1387814304
|
|
|
NM_000152.5(GAA):c.1011G>T (p.Leu337=)
|
|
|
|
NM_000152.5(GAA):c.1017C>T (p.Val339=)
|
rs1242745765
|
|
|
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_000152.5(GAA):c.1020C>T (p.Tyr340=)
|
rs1358917187
|
|
|
NM_000152.5(GAA):c.1023C>A (p.Ile341=)
|
|
|
|
NM_000152.5(GAA):c.1026C>T (p.Phe342=)
|
rs910930578
|
|
|
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs)
|
rs1567829962
|
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
|
NM_000152.5(GAA):c.1035A>C (p.Pro345=)
|
rs942325926
|
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
|
NM_000152.5(GAA):c.1041C>T (p.Pro347=)
|
rs1489442441
|
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
|
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
|
|
|
|
NM_000152.5(GAA):c.1057del (p.Gln353fs)
|
rs2143853690
|
|
|
NM_000152.5(GAA):c.105C>T (p.Phe35=)
|
|
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
|
NM_000152.5(GAA):c.1062C>T (p.Tyr354=)
|
rs1064796703
|
|
|
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
|
rs2143853784
|
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
|
NM_000152.5(GAA):c.1071T>C (p.Val357=)
|
rs1598576937
|
|
|
NM_000152.5(GAA):c.1075+10G>A
|
|
|
|
NM_000152.5(GAA):c.1075+14C>G
|
|
|
|
NM_000152.5(GAA):c.1075+14C>T
|
rs376547092
|
|
|
NM_000152.5(GAA):c.1075+15C>T
|
|
|
|
NM_000152.5(GAA):c.1075+16T>C
|
|
|
|
NM_000152.5(GAA):c.1075+18G>A
|
|
|
|
NM_000152.5(GAA):c.1075+1G>T
|
|
|
|
NM_000152.5(GAA):c.1075+2T>A
|
rs2143853890
|
|
|
NM_000152.5(GAA):c.1075+2T>C
|
|
|
|
NM_000152.5(GAA):c.1075+5G>A
|
|
|
|
NM_000152.5(GAA):c.1075+7C>T
|
|
|
|
NM_000152.5(GAA):c.1075+8del
|
|
|
|
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
|
|
|
|
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter)
|
rs1064794288
|
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
|
NM_000152.5(GAA):c.1076-12G>A
|
|
|
|
NM_000152.5(GAA):c.1076-12del
|
rs2039148326
|
|
|
NM_000152.5(GAA):c.1076-13C>T
|
|
|
|
NM_000152.5(GAA):c.1076-14G>A
|
rs2143854410
|
|
|
NM_000152.5(GAA):c.1076-15G>A
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
|
NM_000152.5(GAA):c.1076-15G>T
|
|
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
|
NM_000152.5(GAA):c.1076-2A>G
|
rs1057516290
|
|
|
NM_000152.5(GAA):c.1076-4G>T
|
rs2039148417
|
|
|
NM_000152.5(GAA):c.1076-7C>T
|
|
|
|
NM_000152.5(GAA):c.1076-8G>A
|
|
|
|
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
|
rs2143854519
|
|
|
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)
|
rs755253527
|
|
|
NM_000152.5(GAA):c.1082dup (p.Phe362fs)
|
rs2143854537
|
|
|
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
|
rs2143854600
|
|
|
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
|
|
|
|
NM_000152.5(GAA):c.108G>C (p.Leu36=)
|
rs1369758261
|
|
|
NM_000152.5(GAA):c.108G>T (p.Leu36=)
|
rs1369758261
|
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
|
NM_000152.5(GAA):c.1091del (p.Pro364fs)
|
rs2143854659
|
|
|
NM_000152.5(GAA):c.1092G>A (p.Pro364=)
|
rs777730774
|
|
|
NM_000152.5(GAA):c.1092G>C (p.Pro364=)
|
|
|
|
NM_000152.5(GAA):c.1095A>C (p.Pro365=)
|
rs1555600060
|
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
|
NM_000152.5(GAA):c.1098C>T (p.Tyr366=)
|
rs2143854770
|
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
|
NM_000152.5(GAA):c.1099del (p.Trp367fs)
|
rs1057516785
|
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
|
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
|
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
|
rs2143854883
|
|
|
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
|
|
|
|
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
|
|
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
|
NM_000152.5(GAA):c.1107G>A (p.Leu369=)
|
|
|
|
NM_000152.5(GAA):c.1107G>C (p.Leu369=)
|
|
|
|
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
|
rs775172804
|
|
|
NM_000152.5(GAA):c.1114C>T (p.His372Tyr)
|
rs1555600070
|
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
|
NM_000152.5(GAA):c.1117del (p.Leu373fs)
|
|
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
|
NM_000152.5(GAA):c.1119G>A (p.Leu373=)
|
rs763579808
|
|
|
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
|
rs1342501706
|
|
|
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
|
|
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
|
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)
|
rs786204646
|
|
|
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser)
|
rs752002666
|
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
|
NM_000152.5(GAA):c.1130del (p.Gly377fs)
|
rs754134578
|
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
|
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)
|
rs1567830317
|
|
|
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter)
|
rs1567830317
|
|
|
NM_000152.5(GAA):c.1134C>T (p.Tyr378=)
|
rs1567830317
|
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
|
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
|
rs2039151138
|
|
|
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
|
rs1214685237
|
|
|
NM_000152.5(GAA):c.1140C>T (p.Ser380=)
|
rs1214685237
|
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
|
NM_000152.5(GAA):c.1149C>T (p.Ile383=)
|
|
|
|
NM_000152.5(GAA):c.1153del (p.Arg385fs)
|
rs1555600102
|
|
|
NM_000152.5(GAA):c.1155C>G (p.Arg385=)
|
|
|
|
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
|
rs2143855573
|
|
|
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter)
|
rs786204517
|
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
|
NM_000152.5(GAA):c.1164G>A (p.Val388=)
|
rs2143855798
|
|
|
NM_000152.5(GAA):c.1165del (p.Glu389fs)
|
rs1555600111
|
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
|
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
|
rs2143855934
|
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
|
NM_000152.5(GAA):c.117C>T (p.Pro39=)
|
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
|
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
|
rs771894765
|
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
|
NM_000152.5(GAA):c.1185C>T (p.His395=)
|
rs2143856022
|
|
|
NM_000152.5(GAA):c.1188C>T (p.Phe396=)
|
rs756126944
|
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
|
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
|
|
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
|
NM_000152.5(GAA):c.1192del (p.Leu398fs)
|
rs1057516546
|
|
|
NM_000152.5(GAA):c.1192dup (p.Leu398fs)
|
rs1057516546
|
|
|
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro)
|
rs1598577666
|
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
|
NM_000152.5(GAA):c.1194+10G>A
|
rs2143856297
|
|
|
NM_000152.5(GAA):c.1194+10G>T
|
|
|
|
NM_000152.5(GAA):c.1194+11G>T
|
|
|
|
NM_000152.5(GAA):c.1194+11del
|
rs2143856264
|
|
|
NM_000152.5(GAA):c.1194+13G>A
|
|
|
|
NM_000152.5(GAA):c.1194+15T>A
|
|
|
|
NM_000152.5(GAA):c.1194+15T>C
|
|
|
|
NM_000152.5(GAA):c.1194+19dup
|
|
|
|
NM_000152.5(GAA):c.1194+20G>C
|
|
|
|
NM_000152.5(GAA):c.1194+2T>C
|
rs1057516215
|
|
|
NM_000152.5(GAA):c.1194+2T>G
|
|
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
|
NM_000152.5(GAA):c.1194+5G>A
|
rs2039153749
|
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
|
NM_000152.5(GAA):c.1194+8G>T
|
rs2143856250
|
|
|
NM_000152.5(GAA):c.1194+9G>A
|
|
|
|
NM_000152.5(GAA):c.1194+9G>T
|
|
|
|
NM_000152.5(GAA):c.1195-15G>C
|
rs373840229
|
|
|
NM_000152.5(GAA):c.1195-16C>T
|
|
|
|
NM_000152.5(GAA):c.1195-17C>G
|
|
|
|
NM_000152.5(GAA):c.1195-18C>A
|
|
|
|
NM_000152.5(GAA):c.1195-19T>C
|
|
|
|
NM_000152.5(GAA):c.1195-19_2190-17del
|
|
|
|
NM_000152.5(GAA):c.1195-1G>A
|
rs1555600166
|
|
|
NM_000152.5(GAA):c.1195-2A>C
|
rs765360653
|
|
|
NM_000152.5(GAA):c.1195-2A>G
|
rs765360653
|
|
|
NM_000152.5(GAA):c.1195-4G>A
|
|
|
|
NM_000152.5(GAA):c.1195-5T>C
|
rs2143856963
|
|
|
NM_000152.5(GAA):c.1195-7del
|
|
|
|
NM_000152.5(GAA):c.1195-9T>C
|
rs2143856933
|
|
|
NM_000152.5(GAA):c.1198del (p.Val400fs)
|
|
|
|
NM_000152.5(GAA):c.1200C>T (p.Val400=)
|
|
|
|
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
|
|
|
|
NM_000152.5(GAA):c.1209C>T (p.Asn403=)
|
rs751333479
|
|
|
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
|
rs2143857187
|
|
|
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro)
|
rs2143857207
|
|
|
NM_000152.5(GAA):c.1215G>A (p.Leu405=)
|
|
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
|
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
|
rs2039157400
|
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
|
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
|
|
|
|
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
|
|
|
|
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
|
rs2039157751
|
|
|
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)
|
rs1598578030
|
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
|
NM_000152.5(GAA):c.1230C>A (p.Ser410=)
|
rs746340075
|
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
|
NM_000152.5(GAA):c.1234A>C (p.Arg412=)
|
|
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
|
NM_000152.5(GAA):c.1236G>A (p.Arg412=)
|
|
|
|
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
|
rs2039158556
|
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
|
NM_000152.5(GAA):c.1241del (p.Phe414fs)
|
|
|
|
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)
|
rs1555600194
|
|
|
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
|
|
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
|
NM_000152.5(GAA):c.1260C>A (p.Gly420=)
|
|
|
|
NM_000152.5(GAA):c.1260C>G (p.Gly420=)
|
|
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
|
NM_000152.5(GAA):c.126G>C (p.Leu42=)
|
rs2143825047
|
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
|
NM_000152.5(GAA):c.1274del (p.Pro425fs)
|
|
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
|
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
|
|
|
|
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)
|
rs1555600212
|
|
|
NM_000152.5(GAA):c.1284G>T (p.Val428=)
|
rs2143857912
|
|
|
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
|
|
|
|
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
|
rs1172862164
|
|
|
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
|
|
|
|
NM_000152.5(GAA):c.1296C>T (p.His432=)
|
rs2143858058
|
|
|
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs)
|
rs2143858151
|
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
|
NM_000152.5(GAA):c.1306C>A (p.Arg436=)
|
|
|
|
NM_000152.5(GAA):c.1308del (p.Arg437fs)
|
rs2143858305
|
|
|
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
|
|
|
|
NM_000152.5(GAA):c.1311C>T (p.Arg437=)
|
rs1234415461
|
|
|
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
|
|
|
|
NM_000152.5(GAA):c.1314C>T (p.Tyr438=)
|
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
|
NM_000152.5(GAA):c.1320G>C (p.Met440Ile)
|
rs550837627
|
|
|
NM_000152.5(GAA):c.1323C>A (p.Ile441=)
|
|
|
|
NM_000152.5(GAA):c.1326+12C>G
|
|
|
|
NM_000152.5(GAA):c.1326+12del
|
|
|
|
NM_000152.5(GAA):c.1326+15A>G
|
rs2143858786
|
|
|
NM_000152.5(GAA):c.1326+16C>G
|
|
|
|
NM_000152.5(GAA):c.1326+16C>T
|
|
|
|
NM_000152.5(GAA):c.1326+20G>T
|
rs774138443
|
|
|
NM_000152.5(GAA):c.1326+2T>C
|
rs1434761678
|
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
|
NM_000152.5(GAA):c.1326+7G>A
|
|
|
|
NM_000152.5(GAA):c.1326+8C>G
|
|
|
|
NM_000152.5(GAA):c.1326+8C>T
|
rs762988038
|
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
|
NM_000152.5(GAA):c.1327-10C>T
|
|
|
|
NM_000152.5(GAA):c.1327-12C>T
|
|
|
|
NM_000152.5(GAA):c.1327-16G>A
|
|
|
|
NM_000152.5(GAA):c.1327-16G>T
|
rs1378637239
|
|
|
NM_000152.5(GAA):c.1327-18A>C
|
|
|
|
NM_000152.5(GAA):c.1327-19_1327-18inv
|
|
|
|
NM_000152.5(GAA):c.1327-20A>G
|
rs2143865452
|
|
|
NM_000152.5(GAA):c.1327-4C>T
|
|
|
|
NM_000152.5(GAA):c.1327-5C>A
|
rs1314883749
|
|
|
NM_000152.5(GAA):c.1327-5C>T
|
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
|
NM_000152.5(GAA):c.1327-8C>T
|
rs1598579967
|
|
|
NM_000152.5(GAA):c.1327-9T>C
|
|
|
|
NM_000152.5(GAA):c.132C>T (p.Gly44=)
|
rs2143825106
|
|
|
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
|
rs775612060
|
|
|
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)
|
rs1555600488
|
|
|
NM_000152.5(GAA):c.1336dup (p.Ile446fs)
|
rs2143865725
|
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
|
NM_000152.5(GAA):c.133del (p.Ser45fs)
|
|
|
|
NM_000152.5(GAA):c.1341C>T (p.Ser447=)
|
|
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
|
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu)
|
rs753483808
|
|
|
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
|
rs756938942
|
|
|
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
|
rs2039190879
|
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
|
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
|
|
|
|
NM_000152.5(GAA):c.1356del (p.Ser454fs)
|
rs2039191420
|
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
|
NM_000152.5(GAA):c.1359G>A (p.Gly453=)
|
rs2143866026
|
|
|
NM_000152.5(GAA):c.135C>T (p.Ser45=)
|
rs2143825187
|
|
|
NM_000152.5(GAA):c.1362C>T (p.Ser454=)
|
|
|
|
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
|
|
|
|
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
|
|
|
|
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
|
|
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
|
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn)
|
rs2143866239
|
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
|
NM_000152.5(GAA):c.1376A>T (p.Asp459Val)
|
rs2143866303
|
|
|
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs)
|
rs2143866321
|
|
|
NM_000152.5(GAA):c.1377C>T (p.Asp459=)
|
rs778121058
|
|
|
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
|
rs2039192386
|
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
|
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)
|
rs2143866454
|
|
|
NM_000152.5(GAA):c.1386G>T (p.Leu462=)
|
|
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
|
NM_000152.5(GAA):c.1390A>C (p.Arg464=)
|
|
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
|
NM_000152.5(GAA):c.1392G>A (p.Arg464=)
|
rs372786811
|
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
|
NM_000152.5(GAA):c.1395G>A (p.Gly465=)
|
rs2143866655
|
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
|
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
|
|
|
|
NM_000152.5(GAA):c.1396del (p.Val466fs)
|
rs1273392818
|
|
|
NM_000152.5(GAA):c.1396dup (p.Val466fs)
|
|
|
|
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)
|
rs2039193694
|
|
|
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
|
|
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
|
NM_000152.5(GAA):c.1407del (p.Asn470fs)
|
|
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
|
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
|
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
|
|
|
|
NM_000152.5(GAA):c.1422G>A (p.Gln474=)
|
|
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
|
NM_000152.5(GAA):c.1426C>T (p.Leu476=)
|
|
|
|
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
|
rs2039195145
|
|
|
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
|
rs2039195201
|
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
|
NM_000152.5(GAA):c.1431del (p.Ile477fs)
|
rs1598580364
|
|
|
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg)
|
rs778068209
|
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
|
NM_000152.5(GAA):c.1437+16A>G
|
|
|
|
NM_000152.5(GAA):c.1437+16_1437+22dup
|
|
|
|
NM_000152.5(GAA):c.1437+18G>C
|
|
|
|
NM_000152.5(GAA):c.1437+1G>A
|
rs1555600575
|
|
|
NM_000152.5(GAA):c.1437+20G>A
|
rs768737799
|
|
|
NM_000152.5(GAA):c.1437+20G>C
|
|
|
|
NM_000152.5(GAA):c.1437+20G>T
|
|
|
|
NM_000152.5(GAA):c.1437+2T>C
|
rs1598580407
|
|
|
NM_000152.5(GAA):c.1437+7C>G
|
rs757605518
|
|
|
NM_000152.5(GAA):c.1437+7C>T
|
rs757605518
|
|
|
NM_000152.5(GAA):c.1437+8G>C
|
rs779194427
|
|
|
NM_000152.5(GAA):c.1437G>A (p.Lys479=)
|
rs796051877
|
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
|
NM_000152.5(GAA):c.1438-12C>G
|
|
|
|
NM_000152.5(GAA):c.1438-12C>T
|
|
|
|
NM_000152.5(GAA):c.1438-13T>C
|
rs1598581379
|
|
|
NM_000152.5(GAA):c.1438-14C>T
|
|
|
|
NM_000152.5(GAA):c.1438-15_1438-1del
|
rs1567832762
|
|
|
NM_000152.5(GAA):c.1438-19G>A
|
|
|
|
NM_000152.5(GAA):c.1438-1G>A
|
|
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
|
NM_000152.5(GAA):c.1438-2A>G
|
rs1555600730
|
|
|
NM_000152.5(GAA):c.1438-6G>C
|
rs1252384762
|
|
|
NM_000152.5(GAA):c.1438-7T>C
|
rs1484346995
|
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
|
NM_000152.5(GAA):c.1438-9G>C
|
|
|
|
NM_000152.5(GAA):c.1438-9G>T
|
rs202211401
|
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
|
NM_000152.5(GAA):c.1440A>G (p.Val480=)
|
rs1555600737
|
|
|
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
|
|
|
|
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter)
|
rs2143871845
|
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu)
|
rs2039212985
|
|
|
NM_000152.5(GAA):c.1446C>T (p.Pro482=)
|
rs529513250
|
|
|
NM_000152.5(GAA):c.144C>T (p.Val48=)
|
rs1055575232
|
|
|
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)
|
rs1337100943
|
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
|
NM_000152.5(GAA):c.1455T>C (p.Thr485=)
|
rs774037839
|
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
|
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
|
|
|
|
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
|
|
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
|
NM_000152.5(GAA):c.1461C>T (p.Phe487=)
|
|
|
|
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu)
|
rs2143872219
|
|
|
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
|
rs2039213824
|
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
|
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
|
|
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
|
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
|
|
|
|
NM_000152.5(GAA):c.147G>A (p.Leu49=)
|
rs915625623
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
|
NM_000152.5(GAA):c.1486C>T (p.Leu496=)
|
rs1598581572
|
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
|
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
|
rs1555598609
|
|
|
NM_000152.5(GAA):c.148_859-11del
|
|
|
|
NM_000152.5(GAA):c.1494del (p.Trp498fs)
|
|
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
|
NM_000152.5(GAA):c.1509G>A (p.Val503=)
|
rs2143872732
|
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
|
NM_000152.5(GAA):c.1518C>T (p.Phe506=)
|
rs1464913441
|
|
|
NM_000152.5(GAA):c.1519dup (p.His507fs)
|
rs2039216097
|
|
|
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
|
|
|
|
NM_000152.5(GAA):c.1527G>A (p.Gln509=)
|
|
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
|
NM_000152.5(GAA):c.1533C>G (p.Pro511=)
|
rs1598581655
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1536C>T (p.Phe512=)
|
rs143491365
|
|
|
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)
|
rs1598581682
|
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
|
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter)
|
rs2039217093
|
|
|
NM_000152.5(GAA):c.1551+10G>A
|
|
|
|
NM_000152.5(GAA):c.1551+10dup
|
rs2143873218
|
|
|
NM_000152.5(GAA):c.1551+11C>T
|
|
|
|
NM_000152.5(GAA):c.1551+15C>G
|
|
|
|
NM_000152.5(GAA):c.1551+15del
|
|
|
|
NM_000152.5(GAA):c.1551+1G>A
|
rs770780848
|
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
|
NM_000152.5(GAA):c.1551+20G>A
|
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
|
NM_000152.5(GAA):c.1551+5G>A
|
rs2039217485
|
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
|
NM_000152.5(GAA):c.1551+7G>T
|
rs1340464172
|
|
|
NM_000152.5(GAA):c.1552-10del
|
|
|
|
NM_000152.5(GAA):c.1552-12C>A
|
rs2143873890
|
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
|
NM_000152.5(GAA):c.1552-16A>G
|
|
|
|
NM_000152.5(GAA):c.1552-20C>T
|
|
|
|
NM_000152.5(GAA):c.1552-2A>G
|
rs1555600846
|
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
|
NM_000152.5(GAA):c.1552-7C>G
|
|
|
|
NM_000152.5(GAA):c.1552-7C>T
|
rs2039221235
|
|
|
NM_000152.5(GAA):c.1552-8T>C
|
rs2039221161
|
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
|
NM_000152.5(GAA):c.1555A>G (p.Met519Val)
|
rs1598581919
|
|
|
NM_000152.5(GAA):c.1557G>A (p.Met519Ile)
|
rs1447365901
|
|
|
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs)
|
rs2143874124
|
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
|
NM_000152.5(GAA):c.1559del (p.Asn520fs)
|
rs2143874154
|
|
|
NM_000152.5(GAA):c.1560del (p.Asn520fs)
|
|
|
|
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
|
|
|
|
NM_000152.5(GAA):c.1561del (p.Glu521fs)
|
|
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
|
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr)
|
rs892129065
|
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
|
NM_000152.5(GAA):c.1565C>T (p.Pro522Leu)
|
rs2143874287
|
|
|
NM_000152.5(GAA):c.1567del (p.Ser523fs)
|
rs1057517267
|
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
|
NM_000152.5(GAA):c.156T>A (p.Thr52=)
|
rs2143825403
|
|
|
NM_000152.5(GAA):c.156_157del (p.His53fs)
|
|
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
|
NM_000152.5(GAA):c.1572C>T (p.Asn524=)
|
rs1417304813
|
|
|
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
|
|
|
|
NM_000152.5(GAA):c.1575dup (p.Ile526fs)
|
rs2143874398
|
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
|
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs)
|
rs1291214871
|
|
|
NM_000152.5(GAA):c.1579del (p.Arg527fs)
|
rs2039222879
|
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
|
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala)
|
rs794727016
|
|
|
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
|
|
|
|
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro)
|
rs1598582021
|
|
|
NM_000152.5(GAA):c.1587del (p.Glu530fs)
|
|
|
|
NM_000152.5(GAA):c.1589del (p.Glu530fs)
|
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
|
NM_000152.5(GAA):c.159C>T (p.His53=)
|
rs2143825464
|
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
|
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
|
rs1241189076
|
|
|
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs)
|
rs2143874754
|
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
|
NM_000152.5(GAA):c.1612C>T (p.Leu538=)
|
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
|
NM_000152.5(GAA):c.1632G>C (p.Val544=)
|
|
|
|
NM_000152.5(GAA):c.1632G>T (p.Val544=)
|
|
|
|
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
|
rs2143875175
|
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
|
NM_000152.5(GAA):c.1636+10C>G
|
rs778634411
|
|
|
NM_000152.5(GAA):c.1636+10C>T
|
rs778634411
|
|
|
NM_000152.5(GAA):c.1636+11C>T
|
|
|
|
NM_000152.5(GAA):c.1636+12C>G
|
|
|
|
NM_000152.5(GAA):c.1636+12C>T
|
|
|
|
NM_000152.5(GAA):c.1636+15C>G
|
|
|
|
NM_000152.5(GAA):c.1636+15C>T
|
|
|
|
NM_000152.5(GAA):c.1636+15dup
|
rs765563836
|
|
|
NM_000152.5(GAA):c.1636+17C>T
|
rs1003384850
|
|
|
NM_000152.5(GAA):c.1636+18C>T
|
|
|
|
NM_000152.5(GAA):c.1636+19T>A
|
|
|
|
NM_000152.5(GAA):c.1636+1G>A
|
|
|
|
NM_000152.5(GAA):c.1636+460_2672del
|
|
|
|
NM_000152.5(GAA):c.1636+7del
|
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
|
NM_000152.5(GAA):c.1637-11G>C
|
|
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
|
NM_000152.5(GAA):c.1637-12dup
|
|
|
|
NM_000152.5(GAA):c.1637-19C>T
|
|
|
|
NM_000152.5(GAA):c.1637-2A>G
|
rs2143882034
|
|
|
NM_000152.5(GAA):c.1637-9C>T
|
rs1598583515
|
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
|
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
|
|
|
|
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
|
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
|
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)
|
rs2039246464
|
|
|
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
|
rs747638133
|
|
|
NM_000152.5(GAA):c.1650del (p.Thr551fs)
|
rs766398206
|
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
|
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
|
|
|
|
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
|
|
|
|
NM_000152.5(GAA):c.1654del (p.Leu552fs)
|
rs2039246615
|
|
|
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
|
rs2039246860
|
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
|
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
|
|
|
|
NM_000152.5(GAA):c.1668C>T (p.Thr556=)
|
rs1415372735
|
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
|
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser)
|
rs1408164312
|
|
|
NM_000152.5(GAA):c.1671C>A (p.Ile557=)
|
|
|
|
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
|
|
|
|
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
|
rs2143882693
|
|
|
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs)
|
rs2143882664
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
|
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
|
rs2143882734
|
|
|
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
|
rs2143882764
|
|
|
NM_000152.5(GAA):c.1686C>T (p.His562=)
|
|
|
|
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)
|
rs1057516426
|
|
|
NM_000152.5(GAA):c.1692T>C (p.Phe564=)
|
rs886043997
|
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
|
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
|
|
|
|
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
|
rs2143882915
|
|
|
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
|
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
|
NM_000152.5(GAA):c.1703A>T (p.His568Leu)
|
rs2143882997
|
|
|
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
|
rs776882059
|
|
|
NM_000152.5(GAA):c.1704C>T (p.His568=)
|
rs776882059
|
|
|
NM_000152.5(GAA):c.1704dup (p.Tyr569fs)
|
rs2143883054
|
|
|
NM_000152.5(GAA):c.1705dup (p.Tyr569fs)
|
rs2143883097
|
|
|
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
|
|
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
|
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
|
rs1405669960
|
|
|
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
|
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
|
NM_000152.5(GAA):c.1716C>T (p.His572=)
|
rs772962666
|
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
|
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
|
rs1175728529
|
|
|
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
|
|
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
|
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)
|
rs112517802
|
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
|
NM_000152.5(GAA):c.1728C>G (p.Gly576=)
|
rs2143883499
|
|
|
NM_000152.5(GAA):c.1728C>T (p.Gly576=)
|
|
|
|
NM_000152.5(GAA):c.1731G>A (p.Leu577=)
|
|
|
|
NM_000152.5(GAA):c.1731G>T (p.Leu577=)
|
|
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
|
NM_000152.5(GAA):c.1746C>T (p.Ala582=)
|
|
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
|
NM_000152.5(GAA):c.1752C>T (p.His584=)
|
|
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
|
NM_000152.5(GAA):c.1754+12G>T
|
|
|
|
NM_000152.5(GAA):c.1754+15C>T
|
|
|
|
NM_000152.5(GAA):c.1754+18C>T
|
|
|
|
NM_000152.5(GAA):c.1754+1_1754+7del
|
rs2039250790
|
|
|
NM_000152.5(GAA):c.1754+2T>A
|
|
|
|
NM_000152.5(GAA):c.1754+2T>C
|
|
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
|
NM_000152.5(GAA):c.1754+9C>G
|
rs1319204794
|
|
|
NM_000152.5(GAA):c.1755-12C>A
|
|
|
|
NM_000152.5(GAA):c.1755-16del
|
|
|
|
NM_000152.5(GAA):c.1755-17G>A
|
|
|
|
NM_000152.5(GAA):c.1755-19G>A
|
|
|
|
NM_000152.5(GAA):c.1755-1G>A
|
rs2039261208
|
|
|
NM_000152.5(GAA):c.1755-20G>A
|
|
|
|
NM_000152.5(GAA):c.1755-5C>T
|
|
|
|
NM_000152.5(GAA):c.1755-8C>G
|
|
|
|
NM_000152.5(GAA):c.1755-9C>T
|
|
|
|
NM_000152.5(GAA):c.1758G>T (p.Ala586=)
|
rs79795428
|
|
|
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
|
rs2039261436
|
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
|
NM_000152.5(GAA):c.1764G>A (p.Val588=)
|
rs2143887715
|
|
|
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
|
rs1317655623
|
|
|
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
|
rs1317655623
|
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
|
NM_000152.5(GAA):c.1782C>A (p.Arg594=)
|
|
|
|
NM_000152.5(GAA):c.1782C>T (p.Arg594=)
|
|
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
|
NM_000152.5(GAA):c.1791G>C (p.Val597=)
|
rs2039262436
|
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
|
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
|
rs761377657
|
|
|
NM_000152.5(GAA):c.1798C>G (p.Arg600Gly)
|
rs764670084
|
|
|
NM_000152.5(GAA):c.1798del (p.Arg600fs)
|
|
|
|
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
|
|
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
|
NM_000152.5(GAA):c.1800C>T (p.Arg600=)
|
rs1598584611
|
|
|
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter)
|
rs374470794
|
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
|
NM_000152.5(GAA):c.1803G>T (p.Ser601=)
|
rs368993048
|
|
|
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala)
|
rs781484283
|
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
|
NM_000152.5(GAA):c.1806C>A (p.Thr602=)
|
rs1598584645
|
|
|
NM_000152.5(GAA):c.1809del (p.Phe603fs)
|
rs2143888280
|
|
|
NM_000152.5(GAA):c.180C>G (p.Ala60=)
|
rs2039031609
|
|
|
NM_000152.5(GAA):c.1814del (p.Gly605fs)
|
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
|
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
|
|
|
|
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)
|
rs1555601409
|
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
|
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs)
|
rs1057516826
|
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
|
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
|
|
|
|
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
|
|
|
|
NM_000152.5(GAA):c.1830C>A (p.Ala610=)
|
|
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
|
NM_000152.5(GAA):c.1833C>T (p.Gly611=)
|
|
|
|
NM_000152.5(GAA):c.1834C>A (p.His612Asn)
|
rs2039264895
|
|
|
NM_000152.5(GAA):c.1836C>G (p.His612Gln)
|
rs768397968
|
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
|
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
|
rs373955374
|
|
|
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu)
|
rs1243515778
|
|
|
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
|
rs1243515778
|
|
|
NM_000152.5(GAA):c.1845G>A (p.Gly615=)
|
|
|
|
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn)
|
rs796161389
|
|
|
NM_000152.5(GAA):c.1846G>T (p.Asp616Tyr)
|
|
|
|
NM_000152.5(GAA):c.1846dup (p.Asp616fs)
|
rs1249187013
|
|
|
NM_000152.5(GAA):c.1847dup (p.Asp616fs)
|
rs1475559733
|
|
|
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
|
|
|
|
NM_000152.5(GAA):c.1848dup (p.Val617fs)
|
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
|
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
|
|
|
|
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
|
|
|
|
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
|
|
|
|
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg)
|
rs914396317
|
|
|
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg)
|
rs1327361418
|
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
|
NM_000152.5(GAA):c.1874_1882del (p.Ala625_Ser627del)
|
|
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
|
NM_000152.5(GAA):c.1878C>T (p.Ser626=)
|
rs2143889719
|
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
|
NM_000152.5(GAA):c.1882G>T (p.Val628Leu)
|
rs745911962
|
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
|
NM_000152.5(GAA):c.1888+10T>C
|
|
|
|
NM_000152.5(GAA):c.1888+12C>A
|
|
|
|
NM_000152.5(GAA):c.1888+15G>A
|
|
|
|
NM_000152.5(GAA):c.1888+18G>A
|
rs1452309871
|
|
|
NM_000152.5(GAA):c.1888+18G>C
|
|
|
|
NM_000152.5(GAA):c.1888+1G>A
|
rs776325453
|
|
|
NM_000152.5(GAA):c.1888+20G>C
|
|
|
|
NM_000152.5(GAA):c.1888+49_1888+72del
|
rs1555601511
|
|
|
NM_000152.5(GAA):c.1888+51_1888+74del
|
rs1555601512
|
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
|
NM_000152.5(GAA):c.1889-12_1889-11del
|
rs777483558
|
|
|
NM_000152.5(GAA):c.1889-13T>C
|
|
|
|
NM_000152.5(GAA):c.1889-15A>T
|
|
|
|
NM_000152.5(GAA):c.1889-18C>G
|
|
|
|
NM_000152.5(GAA):c.1889-20G>A
|
|
|
|
NM_000152.5(GAA):c.1889-4C>T
|
|
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
|
NM_000152.5(GAA):c.1889-7C>T
|
|
|
|
NM_000152.5(GAA):c.1893C>T (p.Ile631=)
|
rs1598585395
|
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
|
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)
|
rs1598585402
|
|
|
NM_000152.5(GAA):c.1896G>T (p.Leu632=)
|
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
|
NM_000152.5(GAA):c.189A>C (p.Pro63=)
|
|
|
|
NM_000152.5(GAA):c.18G>A (p.Pro6=)
|
rs774703637
|
|
|
NM_000152.5(GAA):c.1902T>C (p.Phe634=)
|
|
|
|
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp)
|
rs2143891559
|
|
|
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys)
|
rs1414146587
|
|
|
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
|
rs1414146587
|
|
|
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
|
rs1296740179
|
|
|
NM_000152.5(GAA):c.1908G>C (p.Leu636=)
|
|
|
|
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)
|
rs2039275157
|
|
|
NM_000152.5(GAA):c.1911G>A (p.Leu637=)
|
|
|
|
NM_000152.5(GAA):c.1913G>T (p.Gly638Val)
|
rs1294428728
|
|
|
NM_000152.5(GAA):c.1914G>A (p.Gly638=)
|
rs1305357140
|
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
|
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
|
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
|
NM_000152.5(GAA):c.1926C>G (p.Val642=)
|
rs1346499760
|
|
|
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
|
rs28937909
|
|
|
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
|
|
|
|
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs)
|
rs748829376
|
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
|
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
|
rs28940868
|
|
|
NM_000152.5(GAA):c.1937del (p.Val646fs)
|
|
|
|
NM_000152.5(GAA):c.1940G>A (p.Cys647Tyr)
|
|
|
|
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe)
|
rs1265892085
|
|
|
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
|
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
|
|
|
|
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
|
rs1448515860
|
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
|
NM_000152.5(GAA):c.1947C>T (p.Phe649=)
|
rs770248553
|
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
|
NM_000152.5(GAA):c.1948C>T (p.Leu650=)
|
|
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
|
NM_000152.5(GAA):c.1950G>C (p.Leu650=)
|
|
|
|
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
|
|
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
|
NM_000152.5(GAA):c.1953C>T (p.Gly651=)
|
|
|
|
NM_000152.5(GAA):c.1956C>T (p.Asn652=)
|
|
|
|
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter)
|
rs1057518106
|
|
|
NM_000152.5(GAA):c.1962A>G (p.Ser654=)
|
rs2143892394
|
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
|
NM_000152.5(GAA):c.1966del (p.Glu656fs)
|
|
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
|
NM_000152.5(GAA):c.1971G>A (p.Leu657=)
|
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
|
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
|
|
|
|
NM_000152.5(GAA):c.1976_1977del (p.Val659fs)
|
rs2143892473
|
|
|
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
|
|
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
|
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
|
rs2039278843
|
|
|
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter)
|
rs2143892654
|
|
|
NM_000152.5(GAA):c.1987del (p.Gln663fs)
|
rs2143892615
|
|
|
NM_000152.5(GAA):c.1989G>A (p.Gln663=)
|
rs1189531783
|
|
|
NM_000152.5(GAA):c.198G>A (p.Arg66=)
|
rs2143825886
|
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
|
NM_000152.5(GAA):c.199del (p.Asp67fs)
|
rs2143825870
|
|
|
NM_000152.5(GAA):c.1A>G (p.Met1Val)
|
rs786204467
|
|
|
NM_000152.5(GAA):c.1A>T (p.Met1Leu)
|
rs786204467
|
|
|
NM_000152.5(GAA):c.2001C>T (p.Phe667=)
|
|
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
|
NM_000152.5(GAA):c.2003_2013dup (p.Arg672fs)
|
|
|
|
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
|
|
|
|
NM_000152.5(GAA):c.2004C>T (p.Tyr668=)
|
|
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
|
NM_000152.5(GAA):c.2007C>T (p.Pro669=)
|
|
|
|
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
|
|
|
|
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
|
|
|
|
NM_000152.5(GAA):c.2016G>A (p.Arg672=)
|
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
|
NM_000152.5(GAA):c.2019C>T (p.Asn673=)
|
|
|
|
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del)
|
rs786204621
|
|
|
NM_000152.5(GAA):c.2022C>T (p.His674=)
|
|
|
|
NM_000152.5(GAA):c.2028C>T (p.Ser676=)
|
rs1209690340
|
|
|
NM_000152.5(GAA):c.2029C>T (p.Leu677=)
|
rs1272817506
|
|
|
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln)
|
rs886053546
|
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
|
NM_000152.5(GAA):c.2040+11_2040+18dup
|
rs745338070
|
|
|
NM_000152.5(GAA):c.2040+13T>C
|
|
|
|
NM_000152.5(GAA):c.2040+14G>A
|
|
|
|
NM_000152.5(GAA):c.2040+15G>A
|
|
|
|
NM_000152.5(GAA):c.2040+18G>A
|
|
|
|
NM_000152.5(GAA):c.2040+18G>T
|
|
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
|
NM_000152.5(GAA):c.2040+1G>C
|
rs1057516928
|
|
|
NM_000152.5(GAA):c.2040+1del
|
rs1555601662
|
|
|
NM_000152.5(GAA):c.2040+2T>G
|
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
|
NM_000152.5(GAA):c.2040+8G>C
|
rs779647712
|
|
|
NM_000152.5(GAA):c.2040+8G>T
|
rs779647712
|
|
|
NM_000152.5(GAA):c.2040+9G>A
|
|
|
|
NM_000152.5(GAA):c.2040+9G>C
|
|
|
|
NM_000152.5(GAA):c.2040G>A (p.Leu680=)
|
rs2039280842
|
|
|
NM_000152.5(GAA):c.2041-14del
|
|
|
|
NM_000152.5(GAA):c.2041-14dup
|
|
|
|
NM_000152.5(GAA):c.2041-15C>G
|
|
|
|
NM_000152.5(GAA):c.2041-17C>A
|
rs746028622
|
|
|
NM_000152.5(GAA):c.2041-1G>A
|
rs760731229
|
|
|
NM_000152.5(GAA):c.2041-20T>C
|
|
|
|
NM_000152.5(GAA):c.2041-4G>A
|
rs775757700
|
|
|
NM_000152.5(GAA):c.2041-9G>A
|
rs912717099
|
|
|
NM_000152.5(GAA):c.2041-9G>T
|
|
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
|
NM_000152.5(GAA):c.2043C>G (p.Pro681=)
|
|
|
|
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
|
rs764174168
|
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
|
NM_000152.5(GAA):c.2049G>A (p.Glu683=)
|
|
|
|
NM_000152.5(GAA):c.204C>T (p.Ala68=)
|
rs2143825931
|
|
|
NM_000152.5(GAA):c.2052G>T (p.Pro684=)
|
rs546463058
|
|
|
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del)
|
rs1555601721
|
|
|
NM_000152.5(GAA):c.2055C>T (p.Tyr685=)
|
rs750214208
|
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
|
NM_000152.5(GAA):c.2061del (p.Phe687fs)
|
rs1064796706
|
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
|
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
|
|
|
|
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs)
|
rs398123171
|
|
|
NM_000152.5(GAA):c.2070G>C (p.Pro690=)
|
|
|
|
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
|
rs2039287628
|
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
|
NM_000152.5(GAA):c.2078dup (p.Ala694fs)
|
rs730880372
|
|
|
NM_000152.5(GAA):c.207G>A (p.Gln69=)
|
rs2039032628
|
|
|
NM_000152.5(GAA):c.2082C>T (p.Ala694=)
|
|
|
|
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
|
rs2039287852
|
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
|
NM_000152.5(GAA):c.2088G>A (p.Arg696=)
|
rs2143895840
|
|
|
NM_000152.5(GAA):c.2088del (p.Lys697fs)
|
|
|
|
NM_000152.5(GAA):c.2091G>A (p.Lys697=)
|
rs2143895855
|
|
|
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
|
|
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
|
NM_000152.5(GAA):c.2095dup (p.Leu699fs)
|
rs2143895928
|
|
|
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
|
|
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
|
NM_000152.5(GAA):c.2100C>A (p.Thr700=)
|
|
|
|
NM_000152.5(GAA):c.2100C>T (p.Thr700=)
|
rs199571088
|
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu)
|
rs398123172
|
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
|
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)
|
rs150728610
|
|
|
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
|
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2112A>G (p.Ala704=)
|
rs1449566083
|
|
|
NM_000152.5(GAA):c.2115C>G (p.Leu705=)
|
|
|
|
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
|
rs372881095
|
|
|
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
|
rs1479318289
|
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
|
NM_000152.5(GAA):c.2121C>T (p.Pro707=)
|
|
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
|
NM_000152.5(GAA):c.2122del (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2122dup (p.His708fs)
|
|
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
|
NM_000152.5(GAA):c.2124C>T (p.His708=)
|
rs751187069
|
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
|
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter)
|
rs2039289942
|
|
|
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro)
|
rs2143896492
|
|
|
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala)
|
rs2143896492
|
|
|
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
|
|
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
|
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
|
rs752233229
|
|
|
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs)
|
rs1555601780
|
|
|
NM_000152.5(GAA):c.213C>T (p.His71=)
|
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
|
NM_000152.5(GAA):c.2140del (p.His714fs)
|
rs786204549
|
|
|
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter)
|
rs1275298143
|
|
|
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
|
rs750907936
|
|
|
NM_000152.5(GAA):c.2148C>G (p.Ala716=)
|
rs750907936
|
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
|
NM_000152.5(GAA):c.2154C>G (p.Val718=)
|
rs1800311
|
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
|
NM_000152.5(GAA):c.2157G>C (p.Ala719=)
|
|
|
|
NM_000152.5(GAA):c.2157G>T (p.Ala719=)
|
|
|
|
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter)
|
rs140376273
|
|
|
NM_000152.5(GAA):c.2161del (p.Glu721fs)
|
rs1555601802
|
|
|
NM_000152.5(GAA):c.2161dup (p.Glu721fs)
|
rs1555601802
|
|
|
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
|
rs2143896953
|
|
|
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
|
|
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
|
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
|
rs2039292050
|
|
|
NM_000152.5(GAA):c.2169G>A (p.Val723=)
|
|
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
|
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
|
rs2039292373
|
|
|
NM_000152.5(GAA):c.2173del (p.Arg725fs)
|
rs2039292320
|
|
|
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
|
|
|
|
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
|
rs2143897169
|
|
|
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
|
rs1226457670
|
|
|
NM_000152.5(GAA):c.2178C>G (p.Pro726=)
|
|
|
|
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
|
rs1226457670
|
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
|
NM_000152.5(GAA):c.2185C>T (p.Leu729=)
|
|
|
|
NM_000152.5(GAA):c.2185del (p.Leu729fs)
|
rs1057516581
|
|
|
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter)
|
rs1555601828
|
|
|
NM_000152.5(GAA):c.2189+10_2189+11del
|
|
|
|
NM_000152.5(GAA):c.2189+16del
|
|
|
|
NM_000152.5(GAA):c.2189+2T>A
|
|
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
|
NM_000152.5(GAA):c.2189+5_2189+8del
|
rs2039293139
|
|
|
NM_000152.5(GAA):c.2189+9C>G
|
rs2039293292
|
|
|
NM_000152.5(GAA):c.2189+9C>T
|
rs2039293292
|
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
|
NM_000152.5(GAA):c.2190-16C>T
|
|
|
|
NM_000152.5(GAA):c.2190-20T>C
|
rs1485579975
|
|
|
NM_000152.5(GAA):c.2190-20T>G
|
|
|
|
NM_000152.5(GAA):c.2190-7C>G
|
|
|
|
NM_000152.5(GAA):c.2190-9C>A
|
|
|
|
NM_000152.5(GAA):c.2193C>T (p.Phe731=)
|
|
|
|
NM_000152.5(GAA):c.2196C>A (p.Pro732=)
|
rs915890435
|
|
|
NM_000152.5(GAA):c.21C>T (p.Pro7=)
|
rs2143823837
|
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
|
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
|
rs2143918429
|
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
|
NM_000152.5(GAA):c.2211C>G (p.Thr737=)
|
rs2143918476
|
|
|
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
|
rs2143918476
|
|
|
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter)
|
rs1057516327
|
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
|
NM_000152.5(GAA):c.2220G>A (p.Val740=)
|
|
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
|
NM_000152.5(GAA):c.2223C>T (p.Asp741=)
|
rs767773929
|
|
|
NM_000152.5(GAA):c.2226C>T (p.His742=)
|
|
|
|
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)
|
rs1057516277
|
|
|
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg)
|
rs1567838823
|
|
|
NM_000152.5(GAA):c.2229G>A (p.Gln743=)
|
rs2143918741
|
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
|
NM_000152.5(GAA):c.2232C>T (p.Leu744=)
|
|
|
|
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
|
rs1429277920
|
|
|
NM_000152.5(GAA):c.2235G>C (p.Leu745=)
|
rs1429277920
|
|
|
NM_000152.5(GAA):c.2235G>T (p.Leu745=)
|
|
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
|
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
|
|
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter)
|
rs1057516363
|
|
|
NM_000152.5(GAA):c.2242del (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
|
NM_000152.5(GAA):c.2244G>A (p.Glu748=)
|
|
|
|
NM_000152.5(GAA):c.2247C>A (p.Ala749=)
|
|
|
|
NM_000152.5(GAA):c.2248C>T (p.Leu750=)
|
rs2143919200
|
|
|
NM_000152.5(GAA):c.224C>G (p.Pro75Arg)
|
rs1555598675
|
|
|
NM_000152.5(GAA):c.2261dup (p.Val755fs)
|
rs1555602648
|
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
|
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
|
rs746873847
|
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
|
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs)
|
rs1057516924
|
|
|
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
|
rs760063214
|
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
|
NM_000152.5(GAA):c.2289G>C (p.Val763=)
|
rs767871949
|
|
|
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
|
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
|
|
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
|
NM_000152.5(GAA):c.2300del (p.Phe767fs)
|
rs1555602692
|
|
|
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
|
|
|
|
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
|
|
|
|
NM_000152.5(GAA):c.2304C>G (p.Pro768=)
|
|
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
|
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs)
|
rs2143920189
|
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
|
NM_000152.5(GAA):c.2314del (p.Trp772fs)
|
|
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
|
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
|
|
|
|
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
|
|
|
|
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
|
rs2143920372
|
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
|
NM_000152.5(GAA):c.2331+12G>A
|
|
|
|
NM_000152.5(GAA):c.2331+12G>C
|
|
|
|
NM_000152.5(GAA):c.2331+12G>T
|
|
|
|
NM_000152.5(GAA):c.2331+14C>T
|
rs772727792
|
|
|
NM_000152.5(GAA):c.2331+17del
|
|
|
|
NM_000152.5(GAA):c.2331+19dup
|
|
|
|
NM_000152.5(GAA):c.2331+1G>A
|
|
|
|
NM_000152.5(GAA):c.2331+1G>C
|
|
|
|
NM_000152.5(GAA):c.2331+20G>T
|
|
|
|
NM_000152.5(GAA):c.2331+48C>A
|
rs2143921034
|
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
|
NM_000152.5(GAA):c.2331+4A>G
|
|
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
|
NM_000152.5(GAA):c.2331+7C>G
|
|
|
|
NM_000152.5(GAA):c.2332-12A>G
|
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
|
NM_000152.5(GAA):c.2332-1G>A
|
|
|
|
NM_000152.5(GAA):c.2332-1G>C
|
rs1555602832
|
|
|
NM_000152.5(GAA):c.2332-2A>G
|
rs112098197
|
|
|
NM_000152.5(GAA):c.2332-5T>G
|
rs1276069832
|
|
|
NM_000152.5(GAA):c.2332-7C>A
|
|
|
|
NM_000152.5(GAA):c.2332-7C>T
|
|
|
|
NM_000152.5(GAA):c.2332-8C>T
|
rs2143924023
|
|
|
NM_000152.5(GAA):c.2332-9T>C
|
|
|
|
NM_000152.5(GAA):c.2337A>G (p.Pro779=)
|
rs1042838087
|
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
|
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
|
|
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
|
NM_000152.5(GAA):c.2349T>C (p.Leu783=)
|
|
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
|
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
|
rs2143924314
|
|
|
NM_000152.5(GAA):c.2358C>A (p.Leu786=)
|
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
|
NM_000152.5(GAA):c.2361A>G (p.Pro787=)
|
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
|
NM_000152.5(GAA):c.2364C>T (p.Pro788=)
|
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
|
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
|
rs1012503581
|
|
|
NM_000152.5(GAA):c.2367dup (p.Pro790fs)
|
rs1555602860
|
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
|
NM_000152.5(GAA):c.236_246del (p.Pro79fs)
|
rs1057517165
|
|
|
NM_000152.5(GAA):c.2370T>C (p.Pro790=)
|
|
|
|
NM_000152.5(GAA):c.237C>T (p.Pro79=)
|
|
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
|
NM_000152.5(GAA):c.2380del (p.Arg794fs)
|
rs2143924649
|
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
|
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter)
|
rs886043882
|
|
|
NM_000152.5(GAA):c.2385G>A (p.Glu795=)
|
rs1333952509
|
|
|
NM_000152.5(GAA):c.2385del (p.Glu795fs)
|
rs2143924790
|
|
|
NM_000152.5(GAA):c.2388A>G (p.Pro796=)
|
|
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
|
NM_000152.5(GAA):c.2391C>G (p.Ala797=)
|
|
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
|
NM_000152.5(GAA):c.2395del (p.His799fs)
|
|
|
|
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
|
|
|
|
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
|
rs2143924963
|
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
|
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs)
|
rs763048948
|
|
|
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
|
rs778506693
|
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
|
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter)
|
rs2143925134
|
|
|
NM_000152.5(GAA):c.2415G>T (p.Val805=)
|
rs150536507
|
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
|
NM_000152.5(GAA):c.2418G>T (p.Thr806=)
|
rs371528938
|
|
|
NM_000152.5(GAA):c.241C>T (p.Gln81Ter)
|
rs1555598687
|
|
|
NM_000152.5(GAA):c.2427C>T (p.Ala809=)
|
rs766325117
|
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
|
NM_000152.5(GAA):c.242del (p.Gln81fs)
|
|
|
|
NM_000152.5(GAA):c.2430C>G (p.Pro810=)
|
rs554839058
|
|
|
NM_000152.5(GAA):c.2430C>T (p.Pro810=)
|
rs554839058
|
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
|
NM_000152.5(GAA):c.2431dup (p.Leu811fs)
|
rs2143925402
|
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
|
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn)
|
rs1433117170
|
|
|
NM_000152.5(GAA):c.2439C>A (p.Thr813=)
|
|
|
|
NM_000152.5(GAA):c.2439C>T (p.Thr813=)
|
rs2143925559
|
|
|
NM_000152.5(GAA):c.2442C>T (p.Ile814=)
|
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
|
NM_000152.5(GAA):c.2451C>T (p.His817=)
|
rs753382861
|
|
|
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
|
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
|
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro)
|
rs374687883
|
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
|
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
|
rs2039389205
|
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
|
NM_000152.5(GAA):c.2469C>T (p.Ile823=)
|
|
|
|
NM_000152.5(GAA):c.246C>A (p.Cys82Ter)
|
rs749584846
|
|
|
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs)
|
rs2143926009
|
|
|
NM_000152.5(GAA):c.2472C>A (p.Ile824=)
|
|
|
|
NM_000152.5(GAA):c.2472C>T (p.Ile824=)
|
rs2039389492
|
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
|
NM_000152.5(GAA):c.2475C>T (p.Pro825=)
|
|
|
|
NM_000152.5(GAA):c.2476del (p.Leu826fs)
|
|
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
|
NM_000152.5(GAA):c.2481+10C>A
|
|
|
|
NM_000152.5(GAA):c.2481+110_2646+39del
|
rs1598592604
|
|
|
NM_000152.5(GAA):c.2481+1G>A
|
|
|
|
NM_000152.5(GAA):c.2481+1G>T
|
|
|
|
NM_000152.5(GAA):c.2481+20A>G
|
|
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
|
NM_000152.5(GAA):c.2481+7G>A
|
rs770240317
|
|
|
NM_000152.5(GAA):c.2481+8G>T
|
|
|
|
NM_000152.5(GAA):c.2482-12T>C
|
|
|
|
NM_000152.5(GAA):c.2482-16G>A
|
|
|
|
NM_000152.5(GAA):c.2482-17T>C
|
|
|
|
NM_000152.5(GAA):c.2482-1G>T
|
|
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
|
NM_000152.5(GAA):c.2482-8C>A
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-8C>G
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-8C>T
|
rs1407022252
|
|
|
NM_000152.5(GAA):c.2482-9C>A
|
|
|
|
NM_000152.5(GAA):c.2482-9C>T
|
rs753210535
|
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
|
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs)
|
rs1057516704
|
|
|
NM_000152.5(GAA):c.2496A>C (p.Thr832=)
|
|
|
|
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
|
rs2143929451
|
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
|
NM_000152.5(GAA):c.24C>T (p.Cys8=)
|
|
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
|
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
|
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
|
NM_000152.5(GAA):c.2511C>T (p.Arg837=)
|
|
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
|
NM_000152.5(GAA):c.2517G>A (p.Gln839=)
|
|
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
|
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
|
rs1054395487
|
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
|
NM_000152.5(GAA):c.2526C>G (p.Ala842=)
|
rs886038259
|
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
|
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
|
rs2039403061
|
|
|
NM_000152.5(GAA):c.2529G>C (p.Leu843=)
|
|
|
|
NM_000152.5(GAA):c.252C>A (p.Val84=)
|
rs775079960
|
|
|
NM_000152.5(GAA):c.252C>T (p.Val84=)
|
rs775079960
|
|
|
NM_000152.5(GAA):c.2539C>T (p.Leu847=)
|
|
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
|
NM_000152.5(GAA):c.2544C>G (p.Thr848=)
|
|
|
|
NM_000152.5(GAA):c.2544del (p.Lys849fs)
|
rs398123173
|
|
|
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter)
|
rs2039403673
|
|
|
NM_000152.5(GAA):c.2547G>A (p.Lys849=)
|
|
|
|
NM_000152.5(GAA):c.2550T>G (p.Gly850=)
|
rs761608706
|
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
|
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
|
rs1042397
|
|
|
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
|
|
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
|
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
|
rs2143930088
|
|
|
NM_000152.5(GAA):c.255C>G (p.Pro85=)
|
rs1448106804
|
|
|
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
|
|
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
|
NM_000152.5(GAA):c.2571G>A (p.Leu857=)
|
|
|
|
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
|
|
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
|
NM_000152.5(GAA):c.2583T>C (p.Asp861=)
|
|
|
|
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg)
|
rs1555603113
|
|
|
NM_000152.5(GAA):c.258C>G (p.Pro86=)
|
|
|
|
NM_000152.5(GAA):c.258del (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
|
NM_000152.5(GAA):c.2593C>T (p.Leu865=)
|
rs2143930457
|
|
|
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
|
rs2143930470
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
|
NM_000152.5(GAA):c.2598A>G (p.Glu866=)
|
|
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
|
NM_000152.5(GAA):c.2604G>T (p.Leu868=)
|
rs772250523
|
|
|
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
|
rs780321415
|
|
|
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
|
|
|
|
NM_000152.5(GAA):c.2617dup (p.Tyr873fs)
|
rs1555603131
|
|
|
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter)
|
rs1555603132
|
|
|
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
|
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
|
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter)
|
rs2143930800
|
|
|
NM_000152.5(GAA):c.2625G>A (p.Gln875=)
|
rs2039406110
|
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
|
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
|
rs1160268139
|
|
|
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
|
|
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
|
NM_000152.5(GAA):c.2646+12G>A
|
|
|
|
NM_000152.5(GAA):c.2646+19C>T
|
|
|
|
NM_000152.5(GAA):c.2646+1G>A
|
rs2143931061
|
|
|
NM_000152.5(GAA):c.2646+2T>A
|
rs786204561
|
|
|
NM_000152.5(GAA):c.2646+2T>G
|
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
|
NM_000152.5(GAA):c.2646+7C>G
|
rs2143931099
|
|
|
NM_000152.5(GAA):c.2646+7C>T
|
|
|
|
NM_000152.5(GAA):c.2646+8C>T
|
|
|
|
NM_000152.5(GAA):c.2646+8del
|
rs2039406901
|
|
|
NM_000152.5(GAA):c.2646+9T>C
|
rs1231487778
|
|
|
NM_000152.5(GAA):c.2647-10C>T
|
rs2143933140
|
|
|
NM_000152.5(GAA):c.2647-11G>C
|
rs2039413131
|
|
|
NM_000152.5(GAA):c.2647-12T>C
|
|
|
|
NM_000152.5(GAA):c.2647-12dup
|
|
|
|
NM_000152.5(GAA):c.2647-14T>A
|
|
|
|
NM_000152.5(GAA):c.2647-15C>G
|
rs1567840763
|
|
|
NM_000152.5(GAA):c.2647-17C>G
|
|
|
|
NM_000152.5(GAA):c.2647-1_2648del
|
rs1555603216
|
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
|
NM_000152.5(GAA):c.2647-25_2647-18del
|
|
|
|
NM_000152.5(GAA):c.2647-2A>G
|
|
|
|
NM_000152.5(GAA):c.2647-4C>T
|
|
|
|
NM_000152.5(GAA):c.2647-6G>A
|
rs201525743
|
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
|
NM_000152.5(GAA):c.2647-7G>C
|
|
|
|
NM_000152.5(GAA):c.2647-7G>T
|
|
|
|
NM_000152.5(GAA):c.2647-8C>G
|
rs139201641
|
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
|
NM_000152.5(GAA):c.2652G>C (p.Thr884=)
|
|
|
|
NM_000152.5(GAA):c.2652G>T (p.Thr884=)
|
|
|
|
NM_000152.5(GAA):c.2655C>A (p.Ile885=)
|
rs774840779
|
|
|
NM_000152.5(GAA):c.2655_2656del (p.Val886fs)
|
rs1555603219
|
|
|
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
|
|
|
|
NM_000152.5(GAA):c.2658G>T (p.Val886=)
|
|
|
|
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
|
|
|
|
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
|
rs750939444
|
|
|
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
|
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
|
NM_000152.5(GAA):c.2672del (p.Arg891fs)
|
|
|
|
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
|
|
|
|
NM_000152.5(GAA):c.2676G>A (p.Val892=)
|
|
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
|
NM_000152.5(GAA):c.267C>T (p.Arg89=)
|
rs2039036067
|
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
|
NM_000152.5(GAA):c.2695C>T (p.Leu899=)
|
|
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
|
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
|
rs2143933626
|
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
|
NM_000152.5(GAA):c.2701del (p.Leu901fs)
|
|
|
|
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
|
|
|
|
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
|
|
|
|
NM_000152.5(GAA):c.2703G>A (p.Leu901=)
|
rs2143933710
|
|
|
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter)
|
rs1057516341
|
|
|
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs)
|
rs1057516189
|
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
|
NM_000152.5(GAA):c.2706G>A (p.Gln902=)
|
rs2039415234
|
|
|
NM_000152.5(GAA):c.2707_2709del (p.Lys903del)
|
rs121907939
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
|
NM_000152.5(GAA):c.2718C>T (p.Val906=)
|
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
|
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
|
rs2143933909
|
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
|
NM_000152.5(GAA):c.2723del (p.Gly908fs)
|
|
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
|
NM_000152.5(GAA):c.2730C>A (p.Ala910=)
|
rs2143934007
|
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
|
NM_000152.5(GAA):c.2733G>A (p.Thr911=)
|
|
|
|
NM_000152.5(GAA):c.2734del (p.Ala912fs)
|
|
|
|
NM_000152.5(GAA):c.2736G>T (p.Ala912=)
|
|
|
|
NM_000152.5(GAA):c.2739C>T (p.Pro913=)
|
rs370765733
|
|
|
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter)
|
rs1555603264
|
|
|
NM_000152.5(GAA):c.2740dup (p.Gln914fs)
|
rs745427943
|
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
|
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
|
|
|
|
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
|
|
|
|
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro)
|
rs1555603272
|
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
|
NM_000152.5(GAA):c.2746G>T (p.Val916Phe)
|
rs1221948995
|
|
|
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
|
|
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
|
NM_000152.5(GAA):c.2754C>A (p.Ser918=)
|
rs1598594382
|
|
|
NM_000152.5(GAA):c.2757del (p.Asn919fs)
|
rs1555603283
|
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
|
NM_000152.5(GAA):c.2760T>C (p.Gly920=)
|
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
|
NM_000152.5(GAA):c.2766T>C (p.Pro922=)
|
rs2143934535
|
|
|
NM_000152.5(GAA):c.2769C>A (p.Val923=)
|
rs1272166322
|
|
|
NM_000152.5(GAA):c.2769C>T (p.Val923=)
|
rs1272166322
|
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
|
NM_000152.5(GAA):c.2772C>G (p.Ser924=)
|
|
|
|
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
|
rs2039417635
|
|
|
NM_000152.5(GAA):c.2772del (p.Asn925fs)
|
|
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
|
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
|
|
|
|
NM_000152.5(GAA):c.2782T>C (p.Tyr928His)
|
rs2143934702
|
|
|
NM_000152.5(GAA):c.2784C>T (p.Tyr928=)
|
|
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
|
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
|
rs1439341909
|
|
|
NM_000152.5(GAA):c.2796C>T (p.Thr932=)
|
rs2143934830
|
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
|
NM_000152.5(GAA):c.2799+10C>G
|
rs1482012226
|
|
|
NM_000152.5(GAA):c.2799+10C>T
|
rs1482012226
|
|
|
NM_000152.5(GAA):c.2799+12C>T
|
|
|
|
NM_000152.5(GAA):c.2799+13A>C
|
|
|
|
NM_000152.5(GAA):c.2799+15A>C
|
|
|
|
NM_000152.5(GAA):c.2799+15A>G
|
|
|
|
NM_000152.5(GAA):c.2799+16G>A
|
|
|
|
NM_000152.5(GAA):c.2799+17T>C
|
|
|
|
NM_000152.5(GAA):c.2799+18G>A
|
rs779034370
|
|
|
NM_000152.5(GAA):c.2799+18G>T
|
|
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2799+2C>G
|
|
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
|
NM_000152.5(GAA):c.2799+5G>A
|
|
|
|
NM_000152.5(GAA):c.2800-10T>C
|
rs2143938123
|
|
|
NM_000152.5(GAA):c.2800-11C>T
|
|
|
|
NM_000152.5(GAA):c.2800-13del
|
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
|
NM_000152.5(GAA):c.2800-16G>A
|
|
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
|
NM_000152.5(GAA):c.2800-20T>A
|
|
|
|
NM_000152.5(GAA):c.2800-6T>C
|
rs2143938183
|
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
|
NM_000152.5(GAA):c.2800-9C>T
|
|
|
|
NM_000152.5(GAA):c.2811C>G (p.Ile937Met)
|
rs2039429760
|
|
|
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet)
|
rs1555603411
|
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
|
NM_000152.5(GAA):c.2817C>T (p.Val939=)
|
rs2143938445
|
|
|
NM_000152.5(GAA):c.2820G>C (p.Ser940=)
|
|
|
|
NM_000152.5(GAA):c.2821C>T (p.Leu941=)
|
|
|
|
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
|
|
|
|
NM_000152.5(GAA):c.2824T>C (p.Leu942=)
|
rs780885711
|
|
|
NM_000152.5(GAA):c.2826G>A (p.Leu942=)
|
rs866970316
|
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
|
NM_000152.5(GAA):c.282T>C (p.Pro94=)
|
|
|
|
NM_000152.5(GAA):c.282del (p.Asp95fs)
|
rs2143826963
|
|
|
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
|
|
|
|
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
|
|
|
|
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)
|
rs1555603436
|
|
|
NM_000152.5(GAA):c.2853del (p.Trp951fs)
|
rs1555603434
|
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
|
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp)
|
rs958648168
|
|
|
NM_000152.5(GAA):c.2859G>A (p.Ter953=)
|
|
|
|
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr)
|
rs1334316018
|
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
|
NM_000152.5(GAA):c.297C>G (p.Thr99=)
|
rs771846178
|
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
|
NM_000152.5(GAA):c.2T>C (p.Met1Thr)
|
rs2039024047
|
|
|
NM_000152.5(GAA):c.300G>A (p.Gln100=)
|
rs2143827134
|
|
|
NM_000152.5(GAA):c.303A>G (p.Glu101=)
|
rs2143827161
|
|
|
NM_000152.5(GAA):c.304C>T (p.Gln102Ter)
|
rs1432841878
|
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
|
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr)
|
rs2143827215
|
|
|
NM_000152.5(GAA):c.309C>A (p.Cys103Ter)
|
rs373307393
|
|
|
NM_000152.5(GAA):c.309C>G (p.Cys103Trp)
|
rs373307393
|
|
|
NM_000152.5(GAA):c.30C>T (p.His10=)
|
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
|
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
|
rs915675670
|
|
|
NM_000152.5(GAA):c.318C>A (p.Arg106=)
|
|
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
|
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
|
rs2039038743
|
|
|
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
|
|
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
|
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
|
|
|
|
NM_000152.5(GAA):c.333C>T (p.Ile111=)
|
|
|
|
NM_000152.5(GAA):c.340_341insT (p.Lys114fs)
|
rs2143827701
|
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
|
NM_000152.5(GAA):c.342del (p.Lys114fs)
|
rs1555598796
|
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
|
NM_000152.5(GAA):c.348G>T (p.Gly116=)
|
rs2143827789
|
|
|
NM_000152.5(GAA):c.352C>T (p.Gln118Ter)
|
rs1555598800
|
|
|
NM_000152.5(GAA):c.354G>A (p.Gln118=)
|
|
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
|
NM_000152.5(GAA):c.355G>T (p.Gly119Ter)
|
rs1555598802
|
|
|
NM_000152.5(GAA):c.357A>C (p.Gly119=)
|
|
|
|
NM_000152.5(GAA):c.361C>T (p.Gln121Ter)
|
rs750668627
|
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
|
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
|
|
|
|
NM_000152.5(GAA):c.376del (p.Trp126fs)
|
rs1555598824
|
|
|
NM_000152.5(GAA):c.377G>A (p.Trp126Ter)
|
rs1011631903
|
|
|
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
|
rs2039041225
|
|
|
NM_000152.5(GAA):c.379_380del (p.Cys127fs)
|
rs1207988953
|
|
|
NM_000152.5(GAA):c.381C>T (p.Cys127=)
|
|
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
|
NM_000152.5(GAA):c.389del (p.Pro130fs)
|
|
|
|
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])
|
rs1555598846
|
|
|
NM_000152.5(GAA):c.393C>G (p.Pro131=)
|
rs769276948
|
|
|
NM_000152.5(GAA):c.393del (p.Ser132fs)
|
rs1057517381
|
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
|
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
|
|
|
|
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter)
|
rs2039042313
|
|
|
NM_000152.5(GAA):c.399C>T (p.Tyr133=)
|
|
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
|
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
|
|
|
|
NM_000152.5(GAA):c.411G>A (p.Lys137=)
|
|
|
|
NM_000152.5(GAA):c.414G>A (p.Leu138=)
|
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
|
NM_000152.5(GAA):c.421C>A (p.Leu141Met)
|
rs1379595858
|
|
|
NM_000152.5(GAA):c.423G>A (p.Leu141=)
|
|
|
|
NM_000152.5(GAA):c.423G>T (p.Leu141=)
|
rs2143828533
|
|
|
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
|
|
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
|
NM_000152.5(GAA):c.42C>T (p.Ala14=)
|
rs141377453
|
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
|
NM_000152.5(GAA):c.437del (p.Met146fs)
|
rs1555598869
|
|
|
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter)
|
rs886043112
|
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
|
NM_000152.5(GAA):c.448dup (p.Ala150fs)
|
rs1555598880
|
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
|
NM_000152.5(GAA):c.456G>C (p.Leu152=)
|
rs1477781307
|
|
|
NM_000152.5(GAA):c.456_457dup (p.Thr153fs)
|
rs2143829023
|
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
|
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)
|
rs781124934
|
|
|
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del)
|
rs2039044722
|
|
|
NM_000152.5(GAA):c.465dup (p.Thr156fs)
|
|
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
|
NM_000152.5(GAA):c.468C>G (p.Thr156=)
|
rs145849611
|
|
|
NM_000152.5(GAA):c.471del (p.Thr158fs)
|
rs1057517320
|
|
|
NM_000152.5(GAA):c.480C>T (p.Phe160=)
|
|
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
|
NM_000152.5(GAA):c.482_483del (p.Pro161fs)
|
rs764750389
|
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
|
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
|
|
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
|
NM_000152.5(GAA):c.498C>T (p.Thr166=)
|
|
|
|
NM_000152.5(GAA):c.499C>T (p.Leu167=)
|
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
|
NM_000152.5(GAA):c.501G>A (p.Leu167=)
|
rs1276415397
|
|
|
NM_000152.5(GAA):c.501_502delinsAA (p.Leu167_Arg168=)
|
rs2143829361
|
|
|
NM_000152.5(GAA):c.502C>A (p.Arg168=)
|
|
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
|
NM_000152.5(GAA):c.504G>T (p.Arg168=)
|
|
|
|
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer)
|
rs2143829478
|
|
|
NM_000152.5(GAA):c.513G>C (p.Val171=)
|
|
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
|
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
|
|
|
|
NM_000152.5(GAA):c.522G>A (p.Glu174=)
|
|
|
|
NM_000152.5(GAA):c.525T>C (p.Thr175=)
|
rs2039047153
|
|
|
NM_000152.5(GAA):c.525_526del (p.Asn177fs)
|
rs767882689
|
|
|
NM_000152.5(GAA):c.528_529del (p.Asn177fs)
|
rs2143829649
|
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
|
NM_000152.5(GAA):c.534C>G (p.Arg178=)
|
rs765613378
|
|
|
NM_000152.5(GAA):c.543C>T (p.Phe181=)
|
rs1567826499
|
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
|
NM_000152.5(GAA):c.546+10G>A
|
|
|
|
NM_000152.5(GAA):c.546+12_546+17del
|
rs1567826548
|
|
|
NM_000152.5(GAA):c.546+12_546+17dup
|
|
|
|
NM_000152.5(GAA):c.546+13GGGGCG[3]
|
|
|
|
NM_000152.5(GAA):c.546+16G>A
|
|
|
|
NM_000152.5(GAA):c.546+16G>C
|
rs1043184942
|
|
|
NM_000152.5(GAA):c.546+16G>T
|
|
|
|
NM_000152.5(GAA):c.546+20G>A
|
|
|
|
NM_000152.5(GAA):c.546+20_546+25del
|
|
|
|
NM_000152.5(GAA):c.546+2T>C
|
|
|
|
NM_000152.5(GAA):c.546+2_546+5del
|
rs1181354869
|
|
|
NM_000152.5(GAA):c.546+3GGGCA[3]
|
|
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
|
NM_000152.5(GAA):c.546+7A>G
|
rs1329049814
|
|
|
NM_000152.5(GAA):c.546+7_546+12del
|
|
|
|
NM_000152.5(GAA):c.546+8G>A
|
rs200107080
|
|
|
NM_000152.5(GAA):c.546+9G>A
|
rs2143829950
|
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.546G>T (p.Thr182=)
|
rs143523371
|
|
|
NM_000152.5(GAA):c.547-15C>T
|
|
|
|
NM_000152.5(GAA):c.547-16C>G
|
|
|
|
NM_000152.5(GAA):c.547-1G>C
|
rs2143833579
|
|
|
NM_000152.5(GAA):c.547-4C>A
|
rs3816256
|
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
|
NM_000152.5(GAA):c.547-9C>T
|
rs746507322
|
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
|
NM_000152.5(GAA):c.54C>G (p.Leu18=)
|
rs886053542
|
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
|
NM_000152.5(GAA):c.552A>G (p.Lys184=)
|
|
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
|
NM_000152.5(GAA):c.55del (p.Val19fs)
|
rs1555598544
|
|
|
NM_000152.5(GAA):c.561T>A (p.Ala187=)
|
|
|
|
NM_000152.5(GAA):c.564C>T (p.Asn188=)
|
rs2039068461
|
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
|
NM_000152.5(GAA):c.567G>A (p.Arg189=)
|
|
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
|
NM_000152.5(GAA):c.573C>T (p.Tyr191=)
|
rs376229714
|
|
|
NM_000152.5(GAA):c.579G>A (p.Val193=)
|
rs764299738
|
|
|
NM_000152.5(GAA):c.583T>C (p.Leu195=)
|
rs1323831512
|
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
|
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
|
|
|
|
NM_000152.5(GAA):c.587del (p.Glu196fs)
|
|
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
|
NM_000152.5(GAA):c.594G>C (p.Pro198=)
|
rs1426823689
|
|
|
NM_000152.5(GAA):c.594G>T (p.Pro198=)
|
rs1426823689
|
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
|
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
|
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
|
NM_000152.5(GAA):c.609G>T (p.Arg203=)
|
|
|
|
NM_000152.5(GAA):c.612A>G (p.Ala204=)
|
|
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
|
NM_000152.5(GAA):c.618C>A (p.Ser206=)
|
rs146292898
|
|
|
NM_000152.5(GAA):c.618C>G (p.Ser206=)
|
rs146292898
|
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
|
NM_000152.5(GAA):c.621A>C (p.Pro207=)
|
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
|
NM_000152.5(GAA):c.624C>G (p.Leu208=)
|
rs2143834295
|
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
|
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
|
rs1460607546
|
|
|
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)
|
rs1555599099
|
|
|
NM_000152.5(GAA):c.633G>A (p.Val211=)
|
rs2143834416
|
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
|
NM_000152.5(GAA):c.639C>T (p.Phe213=)
|
rs2143834450
|
|
|
NM_000152.5(GAA):c.639del (p.Ser214fs)
|
rs2143834462
|
|
|
NM_000152.5(GAA):c.642C>A (p.Ser214=)
|
rs1800301
|
|
|
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
|
rs201286896
|
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
|
NM_000152.5(GAA):c.651C>A (p.Pro217=)
|
rs2039072589
|
|
|
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
|
|
|
|
NM_000152.5(GAA):c.657G>A (p.Gly219=)
|
rs2039072905
|
|
|
NM_000152.5(GAA):c.658dup (p.Val220fs)
|
rs2143834640
|
|
|
NM_000152.5(GAA):c.663C>A (p.Ile221=)
|
rs142878958
|
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
|
NM_000152.5(GAA):c.666G>A (p.Val222=)
|
|
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
|
NM_000152.5(GAA):c.671G>C (p.Arg224Pro)
|
rs200210219
|
|
|
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
|
|
|
|
NM_000152.5(GAA):c.678G>T (p.Leu226=)
|
|
|
|
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
|
rs1477774826
|
|
|
NM_000152.5(GAA):c.683dup (p.Arg229fs)
|
rs2143834983
|
|
|
NM_000152.5(GAA):c.684C>T (p.Gly228=)
|
|
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
|
NM_000152.5(GAA):c.692+11G>C
|
|
|
|
NM_000152.5(GAA):c.692+12G>A
|
rs1326313088
|
|
|
NM_000152.5(GAA):c.692+12G>T
|
rs1326313088
|
|
|
NM_000152.5(GAA):c.692+17G>A
|
|
|
|
NM_000152.5(GAA):c.692+1G>A
|
rs773281453
|
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
|
NM_000152.5(GAA):c.692+1G>T
|
|
|
|
NM_000152.5(GAA):c.692+20C>T
|
|
|
|
NM_000152.5(GAA):c.692+2T>C
|
rs1555599171
|
|
|
NM_000152.5(GAA):c.692+8C>G
|
|
|
|
NM_000152.5(GAA):c.693-10T>C
|
rs2143845612
|
|
|
NM_000152.5(GAA):c.693-11C>G
|
|
|
|
NM_000152.5(GAA):c.693-13C>T
|
rs760379754
|
|
|
NM_000152.5(GAA):c.693-14C>T
|
|
|
|
NM_000152.5(GAA):c.693-15G>A
|
|
|
|
NM_000152.5(GAA):c.693-19G>C
|
rs1271276827
|
|
|
NM_000152.5(GAA):c.693-19G>T
|
|
|
|
NM_000152.5(GAA):c.693-1G>C
|
rs2143845687
|
|
|
NM_000152.5(GAA):c.693-20G>A
|
|
|
|
NM_000152.5(GAA):c.693-2A>C
|
|
|
|
NM_000152.5(GAA):c.693-4G>A
|
rs200088236
|
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
|
NM_000152.5(GAA):c.693-5del
|
rs1555599563
|
|
|
NM_000152.5(GAA):c.693-6C>G
|
|
|
|
NM_000152.5(GAA):c.693-6C>T
|
rs2143845646
|
|
|
NM_000152.5(GAA):c.693-7C>T
|
|
|
|
NM_000152.5(GAA):c.693-9G>C
|
|
|
|
NM_000152.5(GAA):c.69C>A (p.Thr23=)
|
rs746351336
|
|
|
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
|
|
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
|
NM_000152.5(GAA):c.708G>A (p.Val236=)
|
rs1308198041
|
|
|
NM_000152.5(GAA):c.708G>T (p.Val236=)
|
rs1308198041
|
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
|
NM_000152.5(GAA):c.711G>C (p.Ala237=)
|
|
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
|
NM_000152.5(GAA):c.714C>A (p.Pro238=)
|
|
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
|
NM_000152.5(GAA):c.716del (p.Leu239fs)
|
rs1555599594
|
|
|
NM_000152.5(GAA):c.717G>T (p.Leu239=)
|
|
|
|
NM_000152.5(GAA):c.722_723del (p.Phe241fs)
|
rs2039116471
|
|
|
NM_000152.5(GAA):c.723T>C (p.Phe241=)
|
|
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
|
NM_000152.5(GAA):c.726G>C (p.Ala242=)
|
rs148578399
|
|
|
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
|
|
|
|
NM_000152.5(GAA):c.729C>T (p.Asp243=)
|
|
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
|
NM_000152.5(GAA):c.735C>T (p.Phe245=)
|
rs1264222457
|
|
|
NM_000152.5(GAA):c.736del (p.Leu246fs)
|
rs886043920
|
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
|
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
|
|
|
|
NM_000152.5(GAA):c.741G>A (p.Gln247=)
|
|
|
|
NM_000152.5(GAA):c.742C>T (p.Leu248=)
|
|
|
|
NM_000152.5(GAA):c.747C>G (p.Ser249=)
|
|
|
|
NM_000152.5(GAA):c.747C>T (p.Ser249=)
|
rs1555599614
|
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
|
NM_000152.5(GAA):c.753G>A (p.Ser251=)
|
rs761363283
|
|
|
NM_000152.5(GAA):c.753G>T (p.Ser251=)
|
rs761363283
|
|
|
NM_000152.5(GAA):c.754C>T (p.Leu252=)
|
rs1598575013
|
|
|
NM_000152.5(GAA):c.755dup (p.Pro253fs)
|
rs1555599619
|
|
|
NM_000152.5(GAA):c.756G>A (p.Leu252=)
|
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
|
NM_000152.5(GAA):c.759C>T (p.Pro253=)
|
rs1352216789
|
|
|
NM_000152.5(GAA):c.759del (p.Ser254fs)
|
rs2039117815
|
|
|
NM_000152.5(GAA):c.75A>C (p.Ala25=)
|
rs1366159150
|
|
|
NM_000152.5(GAA):c.75A>G (p.Ala25=)
|
rs1366159150
|
|
|
NM_000152.5(GAA):c.75A>T (p.Ala25=)
|
|
|
|
NM_000152.5(GAA):c.763C>T (p.Gln255Ter)
|
rs2039118159
|
|
|
NM_000152.5(GAA):c.765G>A (p.Gln255=)
|
rs1450999199
|
|
|
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs)
|
rs1555599637
|
|
|
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs)
|
rs786204532
|
|
|
NM_000152.5(GAA):c.768dup (p.Ile257fs)
|
rs1555599644
|
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
|
NM_000152.5(GAA):c.774A>C (p.Thr258=)
|
rs753112231
|
|
|
NM_000152.5(GAA):c.774A>G (p.Thr258=)
|
rs753112231
|
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
|
NM_000152.5(GAA):c.777C>G (p.Gly259=)
|
|
|
|
NM_000152.5(GAA):c.777C>T (p.Gly259=)
|
|
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
|
NM_000152.5(GAA):c.783C>A (p.Ala261=)
|
rs757356178
|
|
|
NM_000152.5(GAA):c.786G>A (p.Glu262=)
|
|
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
|
NM_000152.5(GAA):c.789C>T (p.His263=)
|
rs1336545018
|
|
|
NM_000152.5(GAA):c.78C>T (p.Leu26=)
|
rs2143824668
|
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
|
NM_000152.5(GAA):c.792C>G (p.Leu264=)
|
rs2143846838
|
|
|
NM_000152.5(GAA):c.792C>T (p.Leu264=)
|
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
|
NM_000152.5(GAA):c.796C>A (p.Pro266Thr)
|
rs1555599667
|
|
|
NM_000152.5(GAA):c.796C>T (p.Pro266Ser)
|
rs1555599667
|
|
|
NM_000152.5(GAA):c.797C>T (p.Pro266Leu)
|
rs1567828977
|
|
|
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
|
rs2039120342
|
|
|
NM_000152.5(GAA):c.79C>T (p.Leu27=)
|
rs538605208
|
|
|
NM_000152.5(GAA):c.806_830del (p.Leu269fs)
|
rs1598575231
|
|
|
NM_000152.5(GAA):c.807C>G (p.Leu269=)
|
|
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
|
NM_000152.5(GAA):c.816C>T (p.Ser272=)
|
rs1405999158
|
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
|
NM_000152.5(GAA):c.822C>T (p.Thr274=)
|
|
|
|
NM_000152.5(GAA):c.827_845del (p.Ile276fs)
|
rs2143847172
|
|
|
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
|
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
|
NM_000152.5(GAA):c.841C>A (p.Arg281=)
|
|
|
|
NM_000152.5(GAA):c.844G>C (p.Asp282His)
|
|
|
|
NM_000152.5(GAA):c.846C>T (p.Asp282=)
|
rs1008936778
|
|
|
NM_000152.5(GAA):c.849T>C (p.Leu283=)
|
rs2143847519
|
|
|
NM_000152.5(GAA):c.84G>A (p.Gly28=)
|
rs769733901
|
|
|
NM_000152.5(GAA):c.84G>C (p.Gly28=)
|
|
|
|
NM_000152.5(GAA):c.84dup (p.His29fs)
|
|
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
|
NM_000152.5(GAA):c.856del (p.Thr286fs)
|
|
|
|
NM_000152.5(GAA):c.858+10C>A
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
|
NM_000152.5(GAA):c.858+11G>A
|
rs1464849313
|
|
|
NM_000152.5(GAA):c.858+12G>C
|
|
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
|
NM_000152.5(GAA):c.858+19G>T
|
|
|
|
NM_000152.5(GAA):c.858+1G>A
|
|
|
|
NM_000152.5(GAA):c.858+20G>T
|
|
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
|
NM_000152.5(GAA):c.858+5_858+11dup
|
rs2039124972
|
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
|
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCAGCGGGC
|
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCGGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGT
|
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC
|
rs3071247
|
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
|
NM_000152.5(GAA):c.858+9G>A
|
|
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
|
NM_000152.5(GAA):c.859-14C>G
|
|
|
|
NM_000152.5(GAA):c.859-14C>T
|
|
|
|
NM_000152.5(GAA):c.859-16C>A
|
|
|
|
NM_000152.5(GAA):c.859-18G>C
|
|
|
|
NM_000152.5(GAA):c.859-1G>C
|
|
|
|
NM_000152.5(GAA):c.859-20C>T
|
|
|
|
NM_000152.5(GAA):c.859-2A>G
|
rs2143848897
|
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
|
NM_000152.5(GAA):c.859-4C>G
|
|
|
|
NM_000152.5(GAA):c.859-4C>T
|
rs749017942
|
|
|
NM_000152.5(GAA):c.859-5C>T
|
rs2143848848
|
|
|
NM_000152.5(GAA):c.859-7G>A
|
|
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
|
NM_000152.5(GAA):c.859-9A>G
|
rs888669731
|
|
|
NM_000152.5(GAA):c.861C>G (p.Pro287=)
|
|
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
|
NM_000152.5(GAA):c.867G>T (p.Ala289=)
|
rs534515557
|
|
|
NM_000152.5(GAA):c.870C>T (p.Asn290=)
|
|
|
|
NM_000152.5(GAA):c.872T>C (p.Leu291Pro)
|
rs2143849151
|
|
|
NM_000152.5(GAA):c.873C>T (p.Leu291=)
|
rs1598575713
|
|
|
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
|
|
|
|
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
|
|
|
|
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)
|
rs763216519
|
|
|
NM_000152.5(GAA):c.879G>A (p.Gly293=)
|
rs2143849260
|
|
|
NM_000152.5(GAA):c.87C>T (p.His29=)
|
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
|
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
|
|
|
|
NM_000152.5(GAA):c.894C>T (p.Tyr298=)
|
|
|
|
NM_000152.5(GAA):c.896T>C (p.Leu299Pro)
|
rs121907940
|
|
|
NM_000152.5(GAA):c.896T>G (p.Leu299Arg)
|
rs121907940
|
|
|
NM_000152.5(GAA):c.897G>C (p.Leu299=)
|
|
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
|
NM_000152.5(GAA):c.900G>C (p.Ala300=)
|
|
|
|
NM_000152.5(GAA):c.900G>T (p.Ala300=)
|
rs759425304
|
|
|
NM_000152.5(GAA):c.904G>T (p.Glu302Ter)
|
rs2039131123
|
|
|
NM_000152.5(GAA):c.915G>T (p.Gly305=)
|
|
|
|
NM_000152.5(GAA):c.917C>A (p.Ser306Ter)
|
rs138097673
|
|
|
NM_000152.5(GAA):c.91C>T (p.Leu31=)
|
rs1295278849
|
|
|
NM_000152.5(GAA):c.921A>C (p.Ala307=)
|
rs1800303
|
|
|
NM_000152.5(GAA):c.922C>G (p.His308Asp)
|
|
|
|
NM_000152.5(GAA):c.923A>C (p.His308Pro)
|
rs2143849751
|
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
|
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
|
|
|
|
NM_000152.5(GAA):c.927G>T (p.Gly309=)
|
rs886043779
|
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
|
NM_000152.5(GAA):c.930G>A (p.Val310=)
|
rs2143849884
|
|
|
NM_000152.5(GAA):c.930del (p.Phe311fs)
|
|
|
|
NM_000152.5(GAA):c.934C>T (p.Leu312=)
|
|
|
|
NM_000152.5(GAA):c.934del (p.Leu312fs)
|
rs886042358
|
|
|
NM_000152.5(GAA):c.935del (p.Leu312fs)
|
|
|
|
NM_000152.5(GAA):c.936G>A (p.Leu312=)
|
rs1456154347
|
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
|
NM_000152.5(GAA):c.942C>T (p.Asn314=)
|
rs2143850004
|
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
|
NM_000152.5(GAA):c.955+10C>A
|
rs2143850207
|
|
|
NM_000152.5(GAA):c.955+11C>G
|
|
|
|
NM_000152.5(GAA):c.955+11C>T
|
|
|
|
NM_000152.5(GAA):c.955+12_955+18del
|
|
|
|
NM_000152.5(GAA):c.955+13C>T
|
|
|
|
NM_000152.5(GAA):c.955+14C>T
|
rs756921041
|
|
|
NM_000152.5(GAA):c.955+17C>T
|
rs2143850296
|
|
|
NM_000152.5(GAA):c.955+18C>T
|
|
|
|
NM_000152.5(GAA):c.955+19A>G
|
|
|
|
NM_000152.5(GAA):c.955+1G>A
|
rs1403691329
|
|
|
NM_000152.5(GAA):c.955+20G>C
|
|
|
|
NM_000152.5(GAA):c.955+43G>C
|
|
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
|
NM_000152.5(GAA):c.955+9C>T
|
|
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
|
NM_000152.5(GAA):c.956-11T>C
|
rs2143852431
|
|
|
NM_000152.5(GAA):c.956-13G>T
|
|
|
|
NM_000152.5(GAA):c.956-17A>T
|
rs2039141211
|
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
|
NM_000152.5(GAA):c.956-4C>T
|
rs2143852512
|
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
|
NM_000152.5(GAA):c.956-7C>G
|
|
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
|
NM_000152.5(GAA):c.956-8C>T
|
rs369149976
|
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
|
NM_000152.5(GAA):c.966G>A (p.Leu322=)
|
rs1197362128
|
|
|
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
|
|
|
|
NM_000152.5(GAA):c.96C>G (p.Leu32=)
|
rs1598569164
|
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
|
NM_000152.5(GAA):c.971dup (p.Ser325fs)
|
rs2143852733
|
|
|
NM_000152.5(GAA):c.972G>C (p.Pro324=)
|
rs763445243
|
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
|
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
|
|
|
|
NM_000152.5(GAA):c.989G>A (p.Trp330Ter)
|
rs1555599960
|
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
|
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
|
|
|
|
NM_000152.5(GAA):c.996G>T (p.Ser332=)
|
rs779266179
|
|
|
NM_000152.5(GAA):c.999A>G (p.Thr333=)
|
rs1598576668
|
|
|
NM_000152.5(GAA):c.[2228A>G;2237G>C]
|
|
|
|
NM_000152.5(GAA):c.[752C>T;761C>T]
|
|
|
|
NM_000154.2(GALK1):c.-27A>C
|
rs767223937
|
|
|
NM_000154.2(GALK1):c.-33_-20dup
|
rs1555748974
|
|
|
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
|
rs764915515
|
|
|
NM_000154.2(GALK1):c.1012dup (p.Val338fs)
|
rs1555747776
|
|
|
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter)
|
rs1026685248
|
|
|
NM_000154.2(GALK1):c.1026C>T (p.Arg342=)
|
|
|
|
NM_000154.2(GALK1):c.102G>A (p.Ala34=)
|
|
|
|
NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)
|
rs771067891
|
|
|
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
|
|
|
|
NM_000154.2(GALK1):c.1055_1056del (p.Thr352fs)
|
|
|
|
NM_000154.2(GALK1):c.1083_1096delinsATG (p.Pro362fs)
|
rs2061563475
|
|
|
NM_000154.2(GALK1):c.1092C>G (p.Ala364=)
|
|
|
|
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
|
rs2061563511
|
|
|
NM_000154.2(GALK1):c.1096C>A (p.Arg366=)
|
|
|
|
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly)
|
rs536478616
|
|
|
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
|
rs2143608703
|
|
|
NM_000154.2(GALK1):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_000154.2(GALK1):c.1107+12C>T
|
|
|
|
NM_000154.2(GALK1):c.1107+18C>T
|
|
|
|
NM_000154.2(GALK1):c.1107+1G>A
|
rs2143585254
|
|
|
NM_000154.2(GALK1):c.1108-11G>A
|
|
|
|
NM_000154.2(GALK1):c.1108-15G>A
|
|
|
|
NM_000154.2(GALK1):c.1108-17C>A
|
|
|
|
NM_000154.2(GALK1):c.1108-17C>T
|
|
|
|
NM_000154.2(GALK1):c.1108-18C>G
|
|
|
|
NM_000154.2(GALK1):c.1108-19C>T
|
|
|
|
NM_000154.2(GALK1):c.1108-20C>T
|
rs755750574
|
|
|
NM_000154.2(GALK1):c.1113C>T (p.His371=)
|
|
|
|
NM_000154.2(GALK1):c.1122G>C (p.Gly374=)
|
|
|
|
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
|
rs1359178236
|
|
|
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
|
|
|
|
NM_000154.2(GALK1):c.1140C>G (p.Leu380=)
|
|
|
|
NM_000154.2(GALK1):c.1140C>T (p.Leu380=)
|
rs1244261337
|
|
|
NM_000154.2(GALK1):c.114C>T (p.Val38=)
|
|
|
|
NM_000154.2(GALK1):c.1150G>C (p.Ala384Pro)
|
|
|
|
NM_000154.2(GALK1):c.1161C>T (p.Ala387=)
|
|
|
|
NM_000154.2(GALK1):c.1168C>T (p.Leu390=)
|
|
|
|
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
|
rs536209426
|
|
|
NM_000154.2(GALK1):c.1176G>A (p.Leu392=)
|
|
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
|
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe)
|
rs1185378925
|
|
|
NM_000154.2(GALK1):c.123C>A (p.Ile41=)
|
|
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
|
NM_000154.2(GALK1):c.135G>A (p.Thr45=)
|
|
|
|
NM_000154.2(GALK1):c.138C>T (p.Asp46=)
|
|
|
|
NM_000154.2(GALK1):c.141C>T (p.Tyr47=)
|
|
|
|
NM_000154.2(GALK1):c.144C>T (p.Asn48=)
|
rs746381829
|
|
|
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
|
rs1438305118
|
|
|
NM_000154.2(GALK1):c.150C>T (p.Gly50=)
|
rs1599336859
|
|
|
NM_000154.2(GALK1):c.153G>A (p.Leu51=)
|
|
|
|
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
|
rs1325878350
|
|
|
NM_000154.2(GALK1):c.162T>G (p.Pro54=)
|
|
|
|
NM_000154.2(GALK1):c.162dup (p.Met55fs)
|
rs2143608028
|
|
|
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
|
rs925336919
|
|
|
NM_000154.2(GALK1):c.165+11G>C
|
|
|
|
NM_000154.2(GALK1):c.165+13A>T
|
|
|
|
NM_000154.2(GALK1):c.165+14C>A
|
|
|
|
NM_000154.2(GALK1):c.165+15G>A
|
|
|
|
NM_000154.2(GALK1):c.165+20G>T
|
|
|
|
NM_000154.2(GALK1):c.165+8dup
|
|
|
|
NM_000154.2(GALK1):c.166-10C>T
|
rs768552200
|
|
|
NM_000154.2(GALK1):c.166-12C>G
|
|
|
|
NM_000154.2(GALK1):c.166-18_166-3dup
|
rs2143605592
|
|
|
NM_000154.2(GALK1):c.166-5_166-4delinsAT
|
rs2143605594
|
|
|
NM_000154.2(GALK1):c.166-5_227dup
|
rs2143605351
|
|
|
NM_000154.2(GALK1):c.166-6T>C
|
|
|
|
NM_000154.2(GALK1):c.166-6dup
|
rs2143605607
|
|
|
NM_000154.2(GALK1):c.166-7C>A
|
|
|
|
NM_000154.2(GALK1):c.166-8C>A
|
|
|
|
NM_000154.2(GALK1):c.166-9T>C
|
rs2143605624
|
|
|
NM_000154.2(GALK1):c.171G>C (p.Leu57=)
|
|
|
|
NM_000154.2(GALK1):c.177C>T (p.Leu59=)
|
|
|
|
NM_000154.2(GALK1):c.183G>C (p.Thr61=)
|
|
|
|
NM_000154.2(GALK1):c.187C>T (p.Leu63=)
|
rs1555748724
|
|
|
NM_000154.2(GALK1):c.18G>A (p.Gln6=)
|
|
|
|
NM_000154.2(GALK1):c.195C>T (p.Gly65=)
|
rs1301639431
|
|
|
NM_000154.2(GALK1):c.1A>C (p.Met1Leu)
|
rs1311294794
|
|
|
NM_000154.2(GALK1):c.1A>G (p.Met1Val)
|
|
|
|
NM_000154.2(GALK1):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000154.2(GALK1):c.202dup (p.Arg68fs)
|
|
|
|
NM_000154.2(GALK1):c.204C>G (p.Arg68=)
|
|
|
|
NM_000154.2(GALK1):c.204C>T (p.Arg68=)
|
|
|
|
NM_000154.2(GALK1):c.205A>T (p.Lys69Ter)
|
|
|
|
NM_000154.2(GALK1):c.206dup (p.Asp70fs)
|
|
|
|
NM_000154.2(GALK1):c.207G>A (p.Lys69=)
|
|
|
|
NM_000154.2(GALK1):c.21C>A (p.Pro7=)
|
|
|
|
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
|
rs2143605334
|
|
|
NM_000154.2(GALK1):c.234C>T (p.Thr78=)
|
|
|
|
NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)
|
rs104894577
|
|
|
NM_000154.2(GALK1):c.246C>T (p.Ala82=)
|
rs746991487
|
|
|
NM_000154.2(GALK1):c.250G>T (p.Glu84Ter)
|
rs761638957
|
|
|
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
|
rs2143605234
|
|
|
NM_000154.2(GALK1):c.261G>A (p.Arg87=)
|
rs2143605202
|
|
|
NM_000154.2(GALK1):c.264G>A (p.Leu88=)
|
|
|
|
NM_000154.2(GALK1):c.265C>T (p.Gln89Ter)
|
rs2143605190
|
|
|
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
|
|
|
|
NM_000154.2(GALK1):c.276G>A (p.Leu92=)
|
|
|
|
NM_000154.2(GALK1):c.279C>G (p.Pro93=)
|
rs749735019
|
|
|
NM_000154.2(GALK1):c.286C>T (p.Gln96Ter)
|
|
|
|
NM_000154.2(GALK1):c.294G>A (p.Ser98=)
|
|
|
|
NM_000154.2(GALK1):c.294G>C (p.Ser98=)
|
|
|
|
NM_000154.2(GALK1):c.295C>T (p.Leu99=)
|
|
|
|
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
|
rs1568395582
|
|
|
NM_000154.2(GALK1):c.298G>T (p.Glu100Ter)
|
rs2061599016
|
|
|
NM_000154.2(GALK1):c.30G>C (p.Ala10=)
|
rs1174194549
|
|
|
NM_000154.2(GALK1):c.317G>A (p.Trp106Ter)
|
rs2061598873
|
|
|
NM_000154.2(GALK1):c.324C>T (p.Asn108=)
|
rs2143604949
|
|
|
NM_000154.2(GALK1):c.327dup (p.Val110fs)
|
|
|
|
NM_000154.2(GALK1):c.331A>T (p.Lys111Ter)
|
|
|
|
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
|
rs2061598790
|
|
|
NM_000154.2(GALK1):c.336A>T (p.Gly112=)
|
|
|
|
NM_000154.2(GALK1):c.339G>T (p.Val113=)
|
|
|
|
NM_000154.2(GALK1):c.33G>A (p.Glu11=)
|
rs2143608612
|
|
|
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
|
rs748888762
|
|
|
NM_000154.2(GALK1):c.348C>T (p.Tyr116=)
|
|
|
|
NM_000154.2(GALK1):c.350del (p.Tyr117fs)
|
|
|
|
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
|
rs778282318
|
|
|
NM_000154.2(GALK1):c.355+10C>G
|
|
|
|
NM_000154.2(GALK1):c.355+11C>G
|
|
|
|
NM_000154.2(GALK1):c.355+14G>T
|
|
|
|
NM_000154.2(GALK1):c.355+1G>A
|
|
|
|
NM_000154.2(GALK1):c.355+7G>C
|
|
|
|
NM_000154.2(GALK1):c.355+8G>A
|
|
|
|
NM_000154.2(GALK1):c.355+8G>T
|
|
|
|
NM_000154.2(GALK1):c.356-11T>G
|
|
|
|
NM_000154.2(GALK1):c.356-19C>T
|
rs781400629
|
|
|
NM_000154.2(GALK1):c.356-20A>G
|
|
|
|
NM_000154.2(GALK1):c.356-8C>A
|
|
|
|
NM_000154.2(GALK1):c.356-8C>T
|
|
|
|
NM_000154.2(GALK1):c.363C>A (p.Pro121=)
|
rs779234943
|
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
|
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
|
rs2061596661
|
|
|
NM_000154.2(GALK1):c.37C>A (p.Leu13Met)
|
rs1001223598
|
|
|
NM_000154.2(GALK1):c.396A>C (p.Ser132=)
|
rs766401384
|
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
|
NM_000154.2(GALK1):c.399G>A (p.Val133=)
|
|
|
|
NM_000154.2(GALK1):c.39G>T (p.Leu13=)
|
rs2143608593
|
|
|
NM_000154.2(GALK1):c.403del (p.Leu135fs)
|
|
|
|
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
|
|
|
|
NM_000154.2(GALK1):c.408G>C (p.Gly136=)
|
rs138057626
|
|
|
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg)
|
rs1555748630
|
|
|
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
|
|
|
NM_000154.2(GALK1):c.410del (p.Gly137fs)
|
rs767329054
|
|
|
NM_000154.2(GALK1):c.410dup (p.Gly138fs)
|
rs767329054
|
|
|
NM_000154.2(GALK1):c.416T>C (p.Leu139Pro)
|
|
|
|
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
|
rs761316738
|
|
|
NM_000154.2(GALK1):c.420C>T (p.Ser140=)
|
|
|
|
NM_000154.2(GALK1):c.425_426delinsT (p.Ser142fs)
|
|
|
|
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
|
rs905607688
|
|
|
NM_000154.2(GALK1):c.432C>G (p.Ser144=)
|
rs150323432
|
|
|
NM_000154.2(GALK1):c.438A>G (p.Glu146=)
|
rs2143603645
|
|
|
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
|
|
|
|
NM_000154.2(GALK1):c.447G>C (p.Thr149=)
|
rs765744088
|
|
|
NM_000154.2(GALK1):c.450C>T (p.Tyr150=)
|
|
|
|
NM_000154.2(GALK1):c.459C>T (p.Leu153=)
|
rs147800408
|
|
|
NM_000154.2(GALK1):c.460C>T (p.Gln154Ter)
|
rs2143603585
|
|
|
NM_000154.2(GALK1):c.465G>A (p.Gln155=)
|
|
|
|
NM_000154.2(GALK1):c.471T>C (p.Cys157=)
|
|
|
|
NM_000154.2(GALK1):c.475+14C>T
|
|
|
|
NM_000154.2(GALK1):c.475+19C>G
|
|
|
|
NM_000154.2(GALK1):c.475+1G>A
|
|
|
|
NM_000154.2(GALK1):c.476-10T>C
|
|
|
|
NM_000154.2(GALK1):c.476-17C>T
|
|
|
|
NM_000154.2(GALK1):c.476-17dup
|
|
|
|
NM_000154.2(GALK1):c.476-2A>G
|
|
|
|
NM_000154.2(GALK1):c.476-8_476-4del
|
|
|
|
NM_000154.2(GALK1):c.479C>A (p.Ser160Ter)
|
rs575077063
|
|
|
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu)
|
rs575077063
|
|
|
NM_000154.2(GALK1):c.486A>G (p.Thr162=)
|
|
|
|
NM_000154.2(GALK1):c.486A>T (p.Thr162=)
|
|
|
|
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
|
rs2143603001
|
|
|
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
|
rs750290029
|
|
|
NM_000154.2(GALK1):c.501C>A (p.Ala167=)
|
|
|
|
NM_000154.2(GALK1):c.501C>T (p.Ala167=)
|
|
|
|
NM_000154.2(GALK1):c.507G>A (p.Val169=)
|
rs760305997
|
|
|
NM_000154.2(GALK1):c.510T>A (p.Cys170Ter)
|
rs775843885
|
|
|
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del)
|
rs1555748595
|
|
|
NM_000154.2(GALK1):c.514C>T (p.Gln172Ter)
|
rs767799179
|
|
|
NM_000154.2(GALK1):c.516G>A (p.Gln172=)
|
rs1282302483
|
|
|
NM_000154.2(GALK1):c.519C>A (p.Ala173=)
|
rs141983398
|
|
|
NM_000154.2(GALK1):c.519C>G (p.Ala173=)
|
rs141983398
|
|
|
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
|
rs141983398
|
|
|
NM_000154.2(GALK1):c.520G>T (p.Glu174Ter)
|
|
|
|
NM_000154.2(GALK1):c.530del (p.Phe177fs)
|
rs2061594762
|
|
|
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
|
rs2143602754
|
|
|
NM_000154.2(GALK1):c.543C>T (p.Pro181=)
|
|
|
|
NM_000154.2(GALK1):c.547_562del (p.Gly183fs)
|
|
|
|
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
|
|
|
|
NM_000154.2(GALK1):c.573T>A (p.Leu191=)
|
rs2061594551
|
|
|
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
|
rs2061594551
|
|
|
NM_000154.2(GALK1):c.573del (p.Met192fs)
|
|
|
|
NM_000154.2(GALK1):c.57C>T (p.Ala19=)
|
|
|
|
NM_000154.2(GALK1):c.580C>T (p.Gln194Ter)
|
|
|
|
NM_000154.2(GALK1):c.585A>G (p.Lys195=)
|
rs1321214794
|
|
|
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
|
rs755764957
|
|
|
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
|
rs755764957
|
|
|
NM_000154.2(GALK1):c.609dup (p.Arg204fs)
|
|
|
|
NM_000154.2(GALK1):c.611+11C>A
|
|
|
|
NM_000154.2(GALK1):c.611+15C>A
|
|
|
|
NM_000154.2(GALK1):c.611+15C>T
|
|
|
|
NM_000154.2(GALK1):c.611+19G>A
|
|
|
|
NM_000154.2(GALK1):c.611+19G>T
|
|
|
|
NM_000154.2(GALK1):c.612-17T>C
|
|
|
|
NM_000154.2(GALK1):c.612-18A>G
|
|
|
|
NM_000154.2(GALK1):c.612-1G>A
|
rs1555748556
|
|
|
NM_000154.2(GALK1):c.612-1G>T
|
|
|
|
NM_000154.2(GALK1):c.612-20C>G
|
|
|
|
NM_000154.2(GALK1):c.612-4C>G
|
rs2061593526
|
|
|
NM_000154.2(GALK1):c.612-6C>T
|
|
|
|
NM_000154.2(GALK1):c.612-7A>C
|
rs946374109
|
|
|
NM_000154.2(GALK1):c.612-8C>T
|
rs2143602055
|
|
|
NM_000154.2(GALK1):c.639C>G (p.Leu213=)
|
|
|
|
NM_000154.2(GALK1):c.657C>G (p.Ala219=)
|
|
|
|
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
|
|
|
|
NM_000154.2(GALK1):c.660G>A (p.Val220=)
|
rs2143601804
|
|
|
NM_000154.2(GALK1):c.660G>C (p.Val220=)
|
rs2143601804
|
|
|
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
|
rs2143601784
|
|
|
NM_000154.2(GALK1):c.678del (p.Asn226fs)
|
rs1568395061
|
|
|
NM_000154.2(GALK1):c.67G>T (p.Glu23Ter)
|
rs2143608501
|
|
|
NM_000154.2(GALK1):c.681C>T (p.Val227=)
|
|
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
|
NM_000154.2(GALK1):c.689_711dup (p.Val238fs)
|
rs1555748534
|
|
|
NM_000154.2(GALK1):c.691C>T (p.Leu231=)
|
|
|
|
NM_000154.2(GALK1):c.69G>A (p.Glu23=)
|
|
|
|
NM_000154.2(GALK1):c.6del (p.Ala3fs)
|
rs2143608720
|
|
|
NM_000154.2(GALK1):c.708C>A (p.Tyr236Ter)
|
|
|
|
NM_000154.2(GALK1):c.708C>T (p.Tyr236=)
|
|
|
|
NM_000154.2(GALK1):c.710del (p.Pro237fs)
|
rs773559496
|
|
|
NM_000154.2(GALK1):c.714G>A (p.Val238=)
|
|
|
|
NM_000154.2(GALK1):c.715C>A (p.Arg239=)
|
|
|
|
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
|
|
|
|
NM_000154.2(GALK1):c.738_739insCTTTCCTT (p.Ala247fs)
|
|
|
|
NM_000154.2(GALK1):c.741C>T (p.Ala247=)
|
|
|
|
NM_000154.2(GALK1):c.756G>A (p.Lys252=)
|
|
|
|
NM_000154.2(GALK1):c.761del (p.Ser254fs)
|
rs1599335144
|
|
|
NM_000154.2(GALK1):c.768_769dup (p.Glu257fs)
|
rs2143601360
|
|
|
NM_000154.2(GALK1):c.775C>T (p.Gln259Ter)
|
rs1599335132
|
|
|
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
|
rs2143601311
|
|
|
NM_000154.2(GALK1):c.781del (p.Glu261fs)
|
|
|
|
NM_000154.2(GALK1):c.784G>T (p.Glu262Ter)
|
rs2061592335
|
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
|
NM_000154.2(GALK1):c.78C>A (p.Ala26=)
|
rs111772385
|
|
|
NM_000154.2(GALK1):c.793+13A>G
|
|
|
|
NM_000154.2(GALK1):c.793+15G>A
|
|
|
|
NM_000154.2(GALK1):c.793+19C>T
|
|
|
|
NM_000154.2(GALK1):c.793+2T>C
|
|
|
|
NM_000154.2(GALK1):c.793+2T>G
|
|
|
|
NM_000154.2(GALK1):c.794-12T>C
|
|
|
|
NM_000154.2(GALK1):c.794-4C>A
|
|
|
|
NM_000154.2(GALK1):c.794-6C>T
|
rs2143588609
|
|
|
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
|
|
|
|
NM_000154.2(GALK1):c.799A>C (p.Arg267=)
|
rs2143588547
|
|
|
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter)
|
rs1555748940
|
|
|
NM_000154.2(GALK1):c.801G>A (p.Arg267=)
|
|
|
|
NM_000154.2(GALK1):c.807G>A (p.Leu269=)
|
|
|
|
NM_000154.2(GALK1):c.807G>C (p.Leu269=)
|
|
|
|
NM_000154.2(GALK1):c.808_809delinsA (p.Val270fs)
|
|
|
|
NM_000154.2(GALK1):c.818_819del (p.Glu273fs)
|
|
|
|
NM_000154.2(GALK1):c.819G>A (p.Glu273=)
|
|
|
|
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
|
rs2061605081
|
|
|
NM_000154.2(GALK1):c.822C>T (p.Gly274=)
|
rs2143588442
|
|
|
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
|
|
|
|
NM_000154.2(GALK1):c.829C>A (p.Arg277=)
|
rs550012222
|
|
|
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
|
rs104894572
|
|
|
NM_000154.2(GALK1):c.834C>T (p.Ala278=)
|
|
|
|
NM_000154.2(GALK1):c.837G>A (p.Arg279=)
|
rs1471733833
|
|
|
NM_000154.2(GALK1):c.837_841dup (p.Val281fs)
|
|
|
|
NM_000154.2(GALK1):c.83_84dup (p.Glu29fs)
|
|
|
|
NM_000154.2(GALK1):c.843G>C (p.Val281=)
|
rs1490873505
|
|
|
NM_000154.2(GALK1):c.843G>T (p.Val281=)
|
|
|
|
NM_000154.2(GALK1):c.846G>A (p.Val282=)
|
rs1289458233
|
|
|
NM_000154.2(GALK1):c.847_860dup (p.Thr288fs)
|
|
|
|
NM_000154.2(GALK1):c.849G>A (p.Gly283=)
|
|
|
|
NM_000154.2(GALK1):c.84C>T (p.Pro28=)
|
|
|
|
NM_000154.2(GALK1):c.853_874del (p.Ile285fs)
|
rs770087254
|
|
|
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
|
|
|
|
NM_000154.2(GALK1):c.860_881del (p.Arg287fs)
|
|
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
|
NM_000154.2(GALK1):c.864G>T (p.Thr288=)
|
rs201247556
|
|
|
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
|
|
|
|
NM_000154.2(GALK1):c.867C>A (p.Ala289=)
|
|
|
|
NM_000154.2(GALK1):c.868C>T (p.Gln290Ter)
|
|
|
|
NM_000154.2(GALK1):c.879C>T (p.Ala293=)
|
|
|
|
NM_000154.2(GALK1):c.882C>T (p.Ala294=)
|
|
|
|
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
|
rs2143587826
|
|
|
NM_000154.2(GALK1):c.900_902del (p.Tyr300_Arg301delinsTer)
|
|
|
|
NM_000154.2(GALK1):c.901A>T (p.Arg301Ter)
|
|
|
|
NM_000154.2(GALK1):c.903A>G (p.Arg301=)
|
|
|
|
NM_000154.2(GALK1):c.90G>C (p.Leu30=)
|
|
|
|
NM_000154.2(GALK1):c.912C>T (p.Gly304=)
|
|
|
|
NM_000154.2(GALK1):c.918C>T (p.Leu306=)
|
|
|
|
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
|
rs2061566977
|
|
|
NM_000154.2(GALK1):c.930C>T (p.Ser310=)
|
rs767539734
|
|
|
NM_000154.2(GALK1):c.939A>T (p.Ser313=)
|
rs2143587541
|
|
|
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
|
rs1165544582
|
|
|
NM_000154.2(GALK1):c.942C>T (p.Leu314=)
|
rs2143587515
|
|
|
NM_000154.2(GALK1):c.944+16C>T
|
|
|
|
NM_000154.2(GALK1):c.944+17G>A
|
|
|
|
NM_000154.2(GALK1):c.944+1G>T
|
rs113464656
|
|
|
NM_000154.2(GALK1):c.944+20C>G
|
|
|
|
NM_000154.2(GALK1):c.945-14T>C
|
|
|
|
NM_000154.2(GALK1):c.945-20C>A
|
|
|
|
NM_000154.2(GALK1):c.945-36_992del
|
rs2143586633
|
|
|
NM_000154.2(GALK1):c.945-4G>A
|
rs2143586908
|
|
|
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)
|
|
|
|
NM_000154.2(GALK1):c.953_954del (p.Asp317_Tyr318insTer)
|
|
|
|
NM_000154.2(GALK1):c.954T>A (p.Tyr318Ter)
|
|
|
|
NM_000154.2(GALK1):c.975G>T (p.Leu325=)
|
rs1247403138
|
|
|
NM_000154.2(GALK1):c.98C>G (p.Ser33Ter)
|
|
|
|
NM_000154.2(GALK1):c.990G>A (p.Glu330=)
|
rs2143586648
|
|
|
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg)
|
rs2061565422
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
|
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
|
|
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
|
NM_000155.3(GALT):c.-130_-129insCAGT
|
rs111033640
|
|
|
NM_000155.3(GALT):c.-38G>A
|
rs886063883
|
|
|
NM_000155.3(GALT):c.-96T>G
|
rs1554709099
|
|
|
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
|
|
|
|
NM_000155.3(GALT):c.[652C>T;c.940A>G]
|
|
|
|
NM_000155.4(GALT):c.*138C>T
|
rs1821232966
|
|
|
NM_000155.4(GALT):c.*18C>G
|
rs771618527
|
|
|
NM_000155.4(GALT):c.*96A>C
|
rs967576667
|
|
|
NM_000155.4(GALT):c.-11C>A
|
rs1821109207
|
|
|
NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)
|
rs111033809
|
|
|
NM_000155.4(GALT):c.1006A>G (p.Met336Val)
|
rs111033810
|
|
|
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
|
rs770770917
|
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
|
NM_000155.4(GALT):c.1011T>G (p.Val337=)
|
|
|
|
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)
|
rs111033806
|
|
|
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile)
|
rs111033812
|
|
|
NM_000155.4(GALT):c.1030C>T (p.Gln344Ter)
|
rs111033814
|
|
|
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn)
|
|
|
|
NM_000155.4(GALT):c.1048del (p.Thr350fs)
|
rs775762045
|
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
|
NM_000155.4(GALT):c.1049C>G (p.Thr350Ser)
|
|
|
|
NM_000155.4(GALT):c.1049C>T (p.Thr350Ile)
|
rs775317639
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
|
NM_000155.4(GALT):c.1054G>C (p.Glu352Gln)
|
|
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
|
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)
|
rs111033818
|
|
|
NM_000155.4(GALT):c.1059+10C>G
|
|
|
|
NM_000155.4(GALT):c.1059+15C>T
|
|
|
|
NM_000155.4(GALT):c.1059+16_1059+17insT
|
|
|
|
NM_000155.4(GALT):c.1059+17G>C
|
|
|
|
NM_000155.4(GALT):c.1059+19C>T
|
|
|
|
NM_000155.4(GALT):c.1059+1G>T
|
rs1554709516
|
|
|
NM_000155.4(GALT):c.1059+7A>C
|
rs2132346581
|
|
|
NM_000155.4(GALT):c.1059+7A>G
|
|
|
|
NM_000155.4(GALT):c.1059+8C>A
|
|
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
|
NM_000155.4(GALT):c.1060-2A>G
|
|
|
|
NM_000155.4(GALT):c.1060-331G>C
|
rs2132347271
|
|
|
NM_000155.4(GALT):c.1060-4C>G
|
|
|
|
NM_000155.4(GALT):c.1060-9C>T
|
|
|
|
NM_000155.4(GALT):c.1065A>G (p.Ala355=)
|
|
|
|
NM_000155.4(GALT):c.1071A>G (p.Arg357=)
|
rs1587241773
|
|
|
NM_000155.4(GALT):c.1080A>T (p.Ala360=)
|
rs2132347971
|
|
|
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
|
rs1821228380
|
|
|
NM_000155.4(GALT):c.1086T>G (p.Pro362=)
|
rs2132347985
|
|
|
NM_000155.4(GALT):c.1087G>A (p.Glu363Lys)
|
rs367543273
|
|
|
NM_000155.4(GALT):c.1087G>T (p.Glu363Ter)
|
|
|
|
NM_000155.4(GALT):c.108G>A (p.Pro36=)
|
rs1362198825
|
|
|
NM_000155.4(GALT):c.1094A>G (p.His365Arg)
|
rs1821228599
|
|
|
NM_000155.4(GALT):c.1095T>C (p.His365=)
|
rs765630722
|
|
|
NM_000155.4(GALT):c.1098C>T (p.Tyr366=)
|
|
|
|
NM_000155.4(GALT):c.1102C>T (p.Leu368=)
|
rs758706590
|
|
|
NM_000155.4(GALT):c.1107G>A (p.Gly369=)
|
|
|
|
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter)
|
rs111033823
|
|
|
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
|
|
|
|
NM_000155.4(GALT):c.1128A>G (p.Ala376=)
|
rs781374930
|
|
|
NM_000155.4(GALT):c.1131C>T (p.Thr377=)
|
|
|
|
NM_000155.4(GALT):c.113A>C (p.Gln38Pro)
|
rs111033646
|
|
|
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)
|
rs111033827
|
|
|
NM_000155.4(GALT):c.127_130del (p.Leu43fs)
|
|
|
|
NM_000155.4(GALT):c.129G>T (p.Leu43=)
|
rs767903479
|
|
|
NM_000155.4(GALT):c.130G>A (p.Val44Met)
|
rs111033647
|
|
|
NM_000155.4(GALT):c.132del (p.Ser45fs)
|
rs1554709139
|
|
|
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)
|
rs2132341560
|
|
|
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)
|
rs111033652
|
|
|
NM_000155.4(GALT):c.134C>T (p.Ser45Leu)
|
rs111033652
|
|
|
NM_000155.4(GALT):c.141C>T (p.His47=)
|
rs2132341583
|
|
|
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)
|
rs886042088
|
|
|
NM_000155.4(GALT):c.14_23dup (p.Gln9fs)
|
rs1554709110
|
|
|
NM_000155.4(GALT):c.151C>A (p.Arg51=)
|
|
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
|
NM_000155.4(GALT):c.152G>T (p.Arg51Leu)
|
rs111033648
|
|
|
NM_000155.4(GALT):c.153G>A (p.Arg51=)
|
rs2132341618
|
|
|
NM_000155.4(GALT):c.157T>A (p.Trp53Arg)
|
rs1131691837
|
|
|
NM_000155.4(GALT):c.157T>C (p.Trp53Arg)
|
rs1131691837
|
|
|
NM_000155.4(GALT):c.15A>G (p.Gly5=)
|
rs2132340741
|
|
|
NM_000155.4(GALT):c.162G>A (p.Gln54=)
|
rs766778777
|
|
|
NM_000155.4(GALT):c.164del (p.Gly55fs)
|
rs1554709146
|
|
|
NM_000155.4(GALT):c.165_174del (p.Gln56fs)
|
|
|
|
NM_000155.4(GALT):c.172G>A (p.Glu58Lys)
|
rs1554709147
|
|
|
NM_000155.4(GALT):c.173A>T (p.Glu58Val)
|
|
|
|
NM_000155.4(GALT):c.174G>A (p.Glu58=)
|
rs754140417
|
|
|
NM_000155.4(GALT):c.177C>T (p.Pro59=)
|
|
|
|
NM_000155.4(GALT):c.180del (p.Gln60fs)
|
rs1554709148
|
|
|
NM_000155.4(GALT):c.183T>G (p.Leu61=)
|
rs2132341678
|
|
|
NM_000155.4(GALT):c.189dup (p.Thr64fs)
|
rs1554709151
|
|
|
NM_000155.4(GALT):c.18C>G (p.Thr6=)
|
|
|
|
NM_000155.4(GALT):c.18del (p.Asp7fs)
|
rs111033638
|
|
|
NM_000155.4(GALT):c.192A>T (p.Thr64=)
|
rs2132341711
|
|
|
NM_000155.4(GALT):c.194T>C (p.Val65Ala)
|
|
|
|
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)
|
rs1469998825
|
|
|
NM_000155.4(GALT):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000155.4(GALT):c.1A>G (p.Met1Val)
|
rs111033639
|
|
|
NM_000155.4(GALT):c.200del (p.Arg67fs)
|
rs2132341744
|
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
|
NM_000155.4(GALT):c.209del (p.Pro70fs)
|
|
|
|
NM_000155.4(GALT):c.20del (p.Asp7fs)
|
|
|
|
NM_000155.4(GALT):c.210T>A (p.Pro70=)
|
|
|
|
NM_000155.4(GALT):c.210T>C (p.Pro70=)
|
|
|
|
NM_000155.4(GALT):c.211C>G (p.Leu71Val)
|
rs143994870
|
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
|
NM_000155.4(GALT):c.216C>T (p.Asn72=)
|
rs2132341779
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
|
NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)
|
|
|
|
NM_000155.4(GALT):c.238C>T (p.Arg80Ter)
|
rs111033664
|
|
|
NM_000155.4(GALT):c.241G>A (p.Ala81Thr)
|
rs111033665
|
|
|
NM_000155.4(GALT):c.247G>A (p.Gly83Arg)
|
rs111033660
|
|
|
NM_000155.4(GALT):c.24T>G (p.Pro8=)
|
|
|
|
NM_000155.4(GALT):c.252+10T>C
|
rs2132341894
|
|
|
NM_000155.4(GALT):c.252+13_252+14del
|
|
|
|
NM_000155.4(GALT):c.252+2T>G
|
|
|
|
NM_000155.4(GALT):c.252+7C>T
|
|
|
|
NM_000155.4(GALT):c.252+8T>C
|
|
|
|
NM_000155.4(GALT):c.252G>A (p.Glu84=)
|
|
|
|
NM_000155.4(GALT):c.253-11C>T
|
|
|
|
NM_000155.4(GALT):c.253-16C>T
|
|
|
|
NM_000155.4(GALT):c.253-18G>A
|
rs567181626
|
|
|
NM_000155.4(GALT):c.253-19del
|
|
|
|
NM_000155.4(GALT):c.253-20T>C
|
|
|
|
NM_000155.4(GALT):c.253-5G>T
|
rs762136953
|
|
|
NM_000155.4(GALT):c.253-6C>A
|
rs753450355
|
|
|
NM_000155.4(GALT):c.253-6C>G
|
|
|
|
NM_000155.4(GALT):c.253-8G>T
|
|
|
|
NM_000155.4(GALT):c.25C>T (p.Gln9Ter)
|
rs111033848
|
|
|
NM_000155.4(GALT):c.260C>G (p.Pro87Arg)
|
|
|
|
NM_000155.4(GALT):c.262dup (p.Gln88fs)
|
|
|
|
NM_000155.4(GALT):c.267C>G (p.Tyr89Ter)
|
|
|
|
NM_000155.4(GALT):c.273C>T (p.Ser91=)
|
rs2132342404
|
|
|
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
|
rs1821135918
|
|
|
NM_000155.4(GALT):c.279C>T (p.Phe93=)
|
rs1307903821
|
|
|
NM_000155.4(GALT):c.27G>C (p.Gln9His)
|
rs111033637
|
|
|
NM_000155.4(GALT):c.285T>G (p.Phe95Leu)
|
rs111033668
|
|
|
NM_000155.4(GALT):c.289A>G (p.Asn97Asp)
|
rs1564100957
|
|
|
NM_000155.4(GALT):c.289_291del (p.Asn97del)
|
rs398123179
|
|
|
NM_000155.4(GALT):c.290A>G (p.Asn97Ser)
|
rs111033669
|
|
|
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)
|
rs111033669
|
|
|
NM_000155.4(GALT):c.291C>T (p.Asn97=)
|
rs398123180
|
|
|
NM_000155.4(GALT):c.292G>C (p.Asp98His)
|
rs111033670
|
|
|
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
|
rs1223049216
|
|
|
NM_000155.4(GALT):c.298C>G (p.Pro100Ala)
|
|
|
|
NM_000155.4(GALT):c.299C>G (p.Pro100Arg)
|
rs1057524572
|
|
|
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs)
|
rs1587236467
|
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
|
NM_000155.4(GALT):c.302C>G (p.Ala101Gly)
|
|
|
|
NM_000155.4(GALT):c.303T>C (p.Ala101=)
|
rs2132342478
|
|
|
NM_000155.4(GALT):c.304C>T (p.Leu102=)
|
rs2132342481
|
|
|
NM_000155.4(GALT):c.30A>G (p.Gln10=)
|
|
|
|
NM_000155.4(GALT):c.318C>T (p.Ala106=)
|
|
|
|
NM_000155.4(GALT):c.31C>G (p.Arg11Gly)
|
|
|
|
NM_000155.4(GALT):c.324T>C (p.Ser108=)
|
rs1262655852
|
|
|
NM_000155.4(GALT):c.327del (p.Gly110fs)
|
rs2132342518
|
|
|
NM_000155.4(GALT):c.328+13C>T
|
|
|
|
NM_000155.4(GALT):c.328+15A>G
|
|
|
|
NM_000155.4(GALT):c.328+2T>C
|
rs111033849
|
|
|
NM_000155.4(GALT):c.328+2T>G
|
|
|
|
NM_000155.4(GALT):c.328+33G>A
|
rs767197888
|
|
|
NM_000155.4(GALT):c.328+8G>A
|
rs2132342533
|
|
|
NM_000155.4(GALT):c.329-12C>T
|
|
|
|
NM_000155.4(GALT):c.329-14C>T
|
|
|
|
NM_000155.4(GALT):c.329-20G>C
|
|
|
|
NM_000155.4(GALT):c.329-5C>T
|
|
|
|
NM_000155.4(GALT):c.329-6C>T
|
|
|
|
NM_000155.4(GALT):c.329-9T>C
|
|
|
|
NM_000155.4(GALT):c.32G>A (p.Arg11His)
|
rs757632977
|
|
|
NM_000155.4(GALT):c.336T>G (p.Ser112Arg)
|
rs367543254
|
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
|
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
|
rs1554709252
|
|
|
NM_000155.4(GALT):c.357A>C (p.Ala119=)
|
rs2132342704
|
|
|
NM_000155.4(GALT):c.359del (p.Lys120fs)
|
rs1821141007
|
|
|
NM_000155.4(GALT):c.363T>C (p.Ser121=)
|
rs2132342720
|
|
|
NM_000155.4(GALT):c.363T>G (p.Ser121=)
|
|
|
|
NM_000155.4(GALT):c.367C>T (p.Arg123Ter)
|
rs111033674
|
|
|
NM_000155.4(GALT):c.368G>A (p.Arg123Gln)
|
rs111033675
|
|
|
NM_000155.4(GALT):c.36G>A (p.Gln12=)
|
|
|
|
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
|
|
|
|
NM_000155.4(GALT):c.377+12T>C
|
|
|
|
NM_000155.4(GALT):c.377+17C>A
|
|
|
|
NM_000155.4(GALT):c.377+19T>C
|
|
|
|
NM_000155.4(GALT):c.377+1G>A
|
|
|
|
NM_000155.4(GALT):c.377+1G>T
|
rs111033681
|
|
|
NM_000155.4(GALT):c.377+20C>G
|
|
|
|
NM_000155.4(GALT):c.377+26A>G
|
|
|
|
NM_000155.4(GALT):c.377+53_1059+87del
|
|
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
|
NM_000155.4(GALT):c.377+8T>C
|
rs1587238189
|
|
|
NM_000155.4(GALT):c.378-10C>T
|
|
|
|
NM_000155.4(GALT):c.378-13C>T
|
|
|
|
NM_000155.4(GALT):c.378-14C>A
|
|
|
|
NM_000155.4(GALT):c.378-15C>T
|
|
|
|
NM_000155.4(GALT):c.378-2A>G
|
rs1554709280
|
|
|
NM_000155.4(GALT):c.378-2A>T
|
rs1554709280
|
|
|
NM_000155.4(GALT):c.378-4C>T
|
rs2132343006
|
|
|
NM_000155.4(GALT):c.37C>T (p.Gln13Ter)
|
|
|
|
NM_000155.4(GALT):c.382G>A (p.Val128Ile)
|
|
|
|
NM_000155.4(GALT):c.384_388del (p.Met129fs)
|
rs2132343017
|
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
|
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)
|
rs367543255
|
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
|
NM_000155.4(GALT):c.396C>T (p.His132=)
|
rs367543256
|
|
|
NM_000155.4(GALT):c.400del (p.Trp134fs)
|
rs111033689
|
|
|
NM_000155.4(GALT):c.403T>G (p.Ser135Ala)
|
rs2132343082
|
|
|
NM_000155.4(GALT):c.404C>G (p.Ser135Trp)
|
rs111033690
|
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
|
NM_000155.4(GALT):c.405G>C (p.Ser135=)
|
|
|
|
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
|
rs1821146618
|
|
|
NM_000155.4(GALT):c.40G>A (p.Ala14Thr)
|
|
|
|
NM_000155.4(GALT):c.40_41insT (p.Ala14fs)
|
rs1821111380
|
|
|
NM_000155.4(GALT):c.412del (p.Thr138fs)
|
|
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
|
NM_000155.4(GALT):c.414G>A (p.Thr138=)
|
rs116479817
|
|
|
NM_000155.4(GALT):c.414G>T (p.Thr138=)
|
rs116479817
|
|
|
NM_000155.4(GALT):c.417G>A (p.Leu139=)
|
|
|
|
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
|
rs1821147228
|
|
|
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)
|
rs111033634
|
|
|
NM_000155.4(GALT):c.423C>T (p.Leu141=)
|
|
|
|
NM_000155.4(GALT):c.424A>C (p.Met142Leu)
|
|
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
|
NM_000155.4(GALT):c.425T>C (p.Met142Thr)
|
rs111033695
|
|
|
NM_000155.4(GALT):c.428C>G (p.Ser143Trp)
|
rs111033697
|
|
|
NM_000155.4(GALT):c.428C>T (p.Ser143Leu)
|
rs111033697
|
|
|
NM_000155.4(GALT):c.430G>C (p.Val144Leu)
|
rs2132343177
|
|
|
NM_000155.4(GALT):c.439A>G (p.Ile147Val)
|
|
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
|
NM_000155.4(GALT):c.450del (p.Val151fs)
|
|
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
|
NM_000155.4(GALT):c.457G>A (p.Ala153Thr)
|
|
|
|
NM_000155.4(GALT):c.45A>G (p.Ser15=)
|
rs2132340841
|
|
|
NM_000155.4(GALT):c.45A>T (p.Ser15=)
|
|
|
|
NM_000155.4(GALT):c.460T>C (p.Trp154Arg)
|
rs111033702
|
|
|
NM_000155.4(GALT):c.462G>A (p.Trp154Ter)
|
rs111033704
|
|
|
NM_000155.4(GALT):c.465_474dup (p.Glu159fs)
|
|
|
|
NM_000155.4(GALT):c.467C>A (p.Ser156Ter)
|
rs766896883
|
|
|
NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)
|
|
|
|
NM_000155.4(GALT):c.480G>A (p.Glu160=)
|
rs1587238612
|
|
|
NM_000155.4(GALT):c.483G>T (p.Leu161=)
|
rs2132343289
|
|
|
NM_000155.4(GALT):c.48G>A (p.Glu16=)
|
|
|
|
NM_000155.4(GALT):c.499T>C (p.Trp167Arg)
|
rs111033708
|
|
|
NM_000155.4(GALT):c.499T>G (p.Trp167Gly)
|
rs111033708
|
|
|
NM_000155.4(GALT):c.501G>A (p.Trp167Ter)
|
|
|
|
NM_000155.4(GALT):c.501G>C (p.Trp167Cys)
|
|
|
|
NM_000155.4(GALT):c.502G>A (p.Val168Met)
|
rs367543258
|
|
|
NM_000155.4(GALT):c.502G>T (p.Val168Leu)
|
rs367543258
|
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
|
NM_000155.4(GALT):c.504G>A (p.Val168=)
|
rs913565225
|
|
|
NM_000155.4(GALT):c.505C>A (p.Gln169Lys)
|
rs111033709
|
|
|
NM_000155.4(GALT):c.507+10G>T
|
|
|
|
NM_000155.4(GALT):c.507+13G>A
|
|
|
|
NM_000155.4(GALT):c.507+13G>T
|
|
|
|
NM_000155.4(GALT):c.507+5G>A
|
rs886043775
|
|
|
NM_000155.4(GALT):c.507+9G>A
|
rs1438905582
|
|
|
NM_000155.4(GALT):c.507G>C (p.Gln169His)
|
|
|
|
NM_000155.4(GALT):c.508-11C>T
|
|
|
|
NM_000155.4(GALT):c.508-15A>G
|
|
|
|
NM_000155.4(GALT):c.508-17G>A
|
rs12000481
|
|
|
NM_000155.4(GALT):c.508-17G>C
|
|
|
|
NM_000155.4(GALT):c.508-17G>T
|
|
|
|
NM_000155.4(GALT):c.508-18C>G
|
|
|
|
NM_000155.4(GALT):c.508-18C>T
|
|
|
|
NM_000155.4(GALT):c.508-19C>T
|
|
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
|
NM_000155.4(GALT):c.508-2_509del
|
rs2132343638
|
|
|
NM_000155.4(GALT):c.508-4A>G
|
|
|
|
NM_000155.4(GALT):c.508-9A>G
|
rs1821155158
|
|
|
NM_000155.4(GALT):c.513del (p.Phe171fs)
|
rs886044409
|
|
|
NM_000155.4(GALT):c.513dup (p.Glu172Ter)
|
rs886044409
|
|
|
NM_000155.4(GALT):c.514G>T (p.Glu172Ter)
|
rs780156428
|
|
|
NM_000155.4(GALT):c.51G>C (p.Ala17=)
|
|
|
|
NM_000155.4(GALT):c.522A>G (p.Lys174=)
|
|
|
|
NM_000155.4(GALT):c.524G>A (p.Gly175Asp)
|
rs111033718
|
|
|
NM_000155.4(GALT):c.527C>T (p.Ala176Val)
|
rs1554709329
|
|
|
NM_000155.4(GALT):c.529A>G (p.Met177Val)
|
|
|
|
NM_000155.4(GALT):c.530T>C (p.Met177Thr)
|
rs2132343692
|
|
|
NM_000155.4(GALT):c.533T>G (p.Met178Arg)
|
|
|
|
NM_000155.4(GALT):c.535G>C (p.Gly179Arg)
|
|
|
|
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
|
rs367543259
|
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
|
NM_000155.4(GALT):c.549C>A (p.Pro183=)
|
|
|
|
NM_000155.4(GALT):c.550C>G (p.His184Asp)
|
rs111033716
|
|
|
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
|
rs111033716
|
|
|
NM_000155.4(GALT):c.550del (p.His184fs)
|
|
|
|
NM_000155.4(GALT):c.550dup (p.His184fs)
|
|
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
|
NM_000155.4(GALT):c.553C>T (p.Pro185Ser)
|
rs111033826
|
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
|
NM_000155.4(GALT):c.556C>A (p.His186Asn)
|
rs111033725
|
|
|
NM_000155.4(GALT):c.557A>G (p.His186Arg)
|
|
|
|
NM_000155.4(GALT):c.558C>A (p.His186Gln)
|
rs886042097
|
|
|
NM_000155.4(GALT):c.558C>G (p.His186Gln)
|
rs886042097
|
|
|
NM_000155.4(GALT):c.558C>T (p.His186=)
|
|
|
|
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)
|
|
|
|
NM_000155.4(GALT):c.561C>A (p.Cys187Ter)
|
rs1821157539
|
|
|
NM_000155.4(GALT):c.561_564+9del
|
rs1554709342
|
|
|
NM_000155.4(GALT):c.562C>T (p.Gln188Ter)
|
rs398123182
|
|
|
NM_000155.4(GALT):c.564+14G>A
|
|
|
|
NM_000155.4(GALT):c.564+16G>A
|
|
|
|
NM_000155.4(GALT):c.564+1G>A
|
rs111033723
|
|
|
NM_000155.4(GALT):c.564+1G>T
|
rs111033723
|
|
|
NM_000155.4(GALT):c.564+7G>T
|
rs760189807
|
|
|
NM_000155.4(GALT):c.564+8T>C
|
rs2132343810
|
|
|
NM_000155.4(GALT):c.565-10C>T
|
rs778835377
|
|
|
NM_000155.4(GALT):c.565-13T>A
|
rs2132344016
|
|
|
NM_000155.4(GALT):c.565-17C>T
|
|
|
|
NM_000155.4(GALT):c.565-20C>T
|
|
|
|
NM_000155.4(GALT):c.565-2A>G
|
rs111033731
|
|
|
NM_000155.4(GALT):c.565-4A>G
|
|
|
|
NM_000155.4(GALT):c.565-4A>T
|
|
|
|
NM_000155.4(GALT):c.565-5G>A
|
|
|
|
NM_000155.4(GALT):c.565-7T>C
|
rs771840709
|
|
|
NM_000155.4(GALT):c.565-7T>G
|
rs771840709
|
|
|
NM_000155.4(GALT):c.565-8C>A
|
|
|
|
NM_000155.4(GALT):c.565-8C>T
|
rs569393869
|
|
|
NM_000155.4(GALT):c.565-9C>T
|
|
|
|
NM_000155.4(GALT):c.565_578del
|
|
|
|
NM_000155.4(GALT):c.572C>A (p.Ala191Asp)
|
rs794727838
|
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
|
NM_000155.4(GALT):c.576_589del (p.Ser192fs)
|
rs1198705438
|
|
|
NM_000155.4(GALT):c.579T>C (p.Ser193=)
|
rs1821162871
|
|
|
NM_000155.4(GALT):c.57C>T (p.Ala19=)
|
rs1821111990
|
|
|
NM_000155.4(GALT):c.580T>C (p.Phe194Leu)
|
rs111033726
|
|
|
NM_000155.4(GALT):c.584T>G (p.Leu195Arg)
|
rs111033728
|
|
|
NM_000155.4(GALT):c.585G>T (p.Leu195=)
|
rs2132344100
|
|
|
NM_000155.4(GALT):c.586C>G (p.Pro196Ala)
|
|
|
|
NM_000155.4(GALT):c.587C>T (p.Pro196Leu)
|
rs886042066
|
|
|
NM_000155.4(GALT):c.588A>G (p.Pro196=)
|
|
|
|
NM_000155.4(GALT):c.594T>C (p.Ile198=)
|
|
|
|
NM_000155.4(GALT):c.597C>G (p.Ala199=)
|
|
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
|
NM_000155.4(GALT):c.604G>A (p.Glu202Lys)
|
rs2132344159
|
|
|
NM_000155.4(GALT):c.608A>G (p.Glu203Gly)
|
rs2132344172
|
|
|
NM_000155.4(GALT):c.611G>C (p.Arg204Pro)
|
rs111033740
|
|
|
NM_000155.4(GALT):c.615_616del (p.Gln206fs)
|
|
|
|
NM_000155.4(GALT):c.616C>T (p.Gln206Ter)
|
rs1554709366
|
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
|
NM_000155.4(GALT):c.619C>T (p.Gln207Ter)
|
rs111033743
|
|
|
NM_000155.4(GALT):c.621G>A (p.Gln207=)
|
rs1821164791
|
|
|
NM_000155.4(GALT):c.625T>G (p.Tyr209Asp)
|
rs2132344222
|
|
|
NM_000155.4(GALT):c.626A>C (p.Tyr209Ser)
|
rs111033744
|
|
|
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)
|
rs1057516720
|
|
|
NM_000155.4(GALT):c.627T>C (p.Tyr209=)
|
|
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
|
NM_000155.4(GALT):c.634C>T (p.Gln212Ter)
|
rs111033746
|
|
|
NM_000155.4(GALT):c.636G>A (p.Gln212=)
|
|
|
|
NM_000155.4(GALT):c.642A>C (p.Gly214=)
|
|
|
|
NM_000155.4(GALT):c.642A>G (p.Gly214=)
|
rs1821165725
|
|
|
NM_000155.4(GALT):c.645G>A (p.Glu215=)
|
rs756379314
|
|
|
NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)
|
|
|
|
NM_000155.4(GALT):c.649_653dup (p.Met219fs)
|
|
|
|
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)
|
rs111033741
|
|
|
NM_000155.4(GALT):c.652C>G (p.Leu218Val)
|
rs2070075
|
|
|
NM_000155.4(GALT):c.652_653del (p.Leu218fs)
|
|
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
|
NM_000155.4(GALT):c.665G>A (p.Ser222Asn)
|
|
|
|
NM_000155.4(GALT):c.666C>T (p.Ser222=)
|
|
|
|
NM_000155.4(GALT):c.667C>A (p.Arg223Ser)
|
rs111033750
|
|
|
NM_000155.4(GALT):c.668G>A (p.Arg223His)
|
|
|
|
NM_000155.4(GALT):c.669C>T (p.Arg223=)
|
rs2132344347
|
|
|
NM_000155.4(GALT):c.669_670del (p.Gln224fs)
|
|
|
|
NM_000155.4(GALT):c.670C>T (p.Gln224Ter)
|
rs1821166869
|
|
|
NM_000155.4(GALT):c.670del (p.Gln224fs)
|
rs1057516883
|
|
|
NM_000155.4(GALT):c.675G>A (p.Glu225=)
|
|
|
|
NM_000155.4(GALT):c.676C>G (p.Leu226Val)
|
rs111033751
|
|
|
NM_000155.4(GALT):c.678A>C (p.Leu226=)
|
|
|
|
NM_000155.4(GALT):c.680_681del (p.Leu227fs)
|
|
|
|
NM_000155.4(GALT):c.681C>A (p.Leu227=)
|
|
|
|
NM_000155.4(GALT):c.682A>C (p.Arg228=)
|
rs2132344383
|
|
|
NM_000155.4(GALT):c.684del (p.Lys229fs)
|
rs2132344399
|
|
|
NM_000155.4(GALT):c.687+16G>A
|
|
|
|
NM_000155.4(GALT):c.687+19C>G
|
|
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
|
NM_000155.4(GALT):c.687+8A>G
|
rs2132344427
|
|
|
NM_000155.4(GALT):c.687G>A (p.Lys229=)
|
rs111033753
|
|
|
NM_000155.4(GALT):c.688-10G>A
|
rs1030389064
|
|
|
NM_000155.4(GALT):c.688-12_688-11del
|
rs777929860
|
|
|
NM_000155.4(GALT):c.688-17C>T
|
|
|
|
NM_000155.4(GALT):c.688-1G>C
|
rs1821175162
|
|
|
NM_000155.4(GALT):c.688-20T>C
|
|
|
|
NM_000155.4(GALT):c.688-4del
|
rs1462676944
|
|
|
NM_000155.4(GALT):c.688-7T>G
|
|
|
|
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
|
rs111033749
|
|
|
NM_000155.4(GALT):c.696G>A (p.Leu232=)
|
|
|
|
NM_000155.4(GALT):c.697G>T (p.Val233Phe)
|
|
|
|
NM_000155.4(GALT):c.6G>A (p.Ser2=)
|
rs1410764100
|
|
|
NM_000155.4(GALT):c.700C>T (p.Leu234=)
|
rs751351126
|
|
|
NM_000155.4(GALT):c.708_709del (p.Ser236fs)
|
rs2132344913
|
|
|
NM_000155.4(GALT):c.715T>C (p.Trp239Arg)
|
rs1336294207
|
|
|
NM_000155.4(GALT):c.717G>T (p.Trp239Cys)
|
|
|
|
NM_000155.4(GALT):c.719_728del (p.Leu240fs)
|
rs111033838
|
|
|
NM_000155.4(GALT):c.723A>G (p.Val241=)
|
|
|
|
NM_000155.4(GALT):c.724C>T (p.Leu242=)
|
|
|
|
NM_000155.4(GALT):c.726G>A (p.Leu242=)
|
rs2132344939
|
|
|
NM_000155.4(GALT):c.727G>A (p.Val243Ile)
|
rs1403255940
|
|
|
NM_000155.4(GALT):c.737G>A (p.Trp246Ter)
|
rs1821176206
|
|
|
NM_000155.4(GALT):c.745T>C (p.Trp249Arg)
|
rs111033757
|
|
|
NM_000155.4(GALT):c.747G>A (p.Trp249Ter)
|
rs111033758
|
|
|
NM_000155.4(GALT):c.748C>T (p.Pro250Ser)
|
|
|
|
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)
|
rs111033755
|
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
|
NM_000155.4(GALT):c.754del (p.Gln252fs)
|
|
|
|
NM_000155.4(GALT):c.759A>G (p.Thr253=)
|
rs1554709425
|
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
|
NM_000155.4(GALT):c.762G>C (p.Leu254=)
|
rs748639317
|
|
|
NM_000155.4(GALT):c.768G>T (p.Leu256=)
|
|
|
|
NM_000155.4(GALT):c.772del (p.Arg258fs)
|
rs2132345023
|
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
|
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)
|
rs111033762
|
|
|
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)
|
rs1554709431
|
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
|
NM_000155.4(GALT):c.795T>C (p.Pro265=)
|
|
|
|
NM_000155.4(GALT):c.796G>T (p.Glu266Ter)
|
rs1821178833
|
|
|
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
|
rs1821178890
|
|
|
NM_000155.4(GALT):c.804C>T (p.Thr268=)
|
|
|
|
NM_000155.4(GALT):c.812A>G (p.Glu271Gly)
|
rs111033765
|
|
|
NM_000155.4(GALT):c.813G>C (p.Glu271Asp)
|
|
|
|
NM_000155.4(GALT):c.814del (p.Arg272fs)
|
rs2132345163
|
|
|
NM_000155.4(GALT):c.815G>A (p.Arg272His)
|
rs111033831
|
|
|
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
|
|
|
|
NM_000155.4(GALT):c.82+10C>T
|
rs1480449606
|
|
|
NM_000155.4(GALT):c.82+11C>A
|
|
|
|
NM_000155.4(GALT):c.82+14G>A
|
|
|
|
NM_000155.4(GALT):c.82+17A>C
|
|
|
|
NM_000155.4(GALT):c.82+17A>G
|
|
|
|
NM_000155.4(GALT):c.82+18G>A
|
|
|
|
NM_000155.4(GALT):c.82+19G>A
|
|
|
|
NM_000155.4(GALT):c.82+20G>A
|
|
|
|
NM_000155.4(GALT):c.82+20_82+60del
|
rs771008280
|
|
|
NM_000155.4(GALT):c.82+2T>G
|
|
|
|
NM_000155.4(GALT):c.82+2del
|
rs794726876
|
|
|
NM_000155.4(GALT):c.82+8C>A
|
rs368244179
|
|
|
NM_000155.4(GALT):c.820+13A>C
|
rs111033768
|
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
|
NM_000155.4(GALT):c.820+16A>C
|
rs1414791300
|
|
|
NM_000155.4(GALT):c.820+19A>G
|
|
|
|
NM_000155.4(GALT):c.820+2T>C
|
|
|
|
NM_000155.4(GALT):c.821-13G>C
|
|
|
|
NM_000155.4(GALT):c.821-1del
|
rs2132345349
|
|
|
NM_000155.4(GALT):c.821-20G>T
|
|
|
|
NM_000155.4(GALT):c.821-2A>G
|
rs111033767
|
|
|
NM_000155.4(GALT):c.821-6T>C
|
rs2132345339
|
|
|
NM_000155.4(GALT):c.823C>G (p.Leu275Val)
|
rs796051967
|
|
|
NM_000155.4(GALT):c.823C>T (p.Leu275=)
|
|
|
|
NM_000155.4(GALT):c.827C>G (p.Ala276Gly)
|
rs1564102003
|
|
|
NM_000155.4(GALT):c.828C>A (p.Ala276=)
|
rs1192715180
|
|
|
NM_000155.4(GALT):c.82G>A (p.Asp28Asn)
|
rs111033636
|
|
|
NM_000155.4(GALT):c.83-10del
|
|
|
|
NM_000155.4(GALT):c.83-14C>A
|
|
|
|
NM_000155.4(GALT):c.83-14C>T
|
|
|
|
NM_000155.4(GALT):c.83-17T>C
|
rs2132341385
|
|
|
NM_000155.4(GALT):c.83-19C>G
|
|
|
|
NM_000155.4(GALT):c.83-2A>G
|
rs1057517415
|
|
|
NM_000155.4(GALT):c.83-5C>T
|
|
|
|
NM_000155.4(GALT):c.83-7C>T
|
|
|
|
NM_000155.4(GALT):c.83-8G>A
|
|
|
|
NM_000155.4(GALT):c.831C>T (p.Ser277=)
|
rs755776140
|
|
|
NM_000155.4(GALT):c.835A>G (p.Met279Val)
|
|
|
|
NM_000155.4(GALT):c.836T>G (p.Met279Arg)
|
rs111033779
|
|
|
NM_000155.4(GALT):c.840G>A (p.Lys280=)
|
rs1408275054
|
|
|
NM_000155.4(GALT):c.844C>G (p.Leu282Val)
|
rs111033772
|
|
|
NM_000155.4(GALT):c.849_850del (p.Leu283fs)
|
|
|
|
NM_000155.4(GALT):c.853A>T (p.Lys285Ter)
|
rs1821183505
|
|
|
NM_000155.4(GALT):c.854A>C (p.Lys285Thr)
|
|
|
|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095
|
|
|
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
|
rs1821184031
|
|
|
NM_000155.4(GALT):c.86A>G (p.His29Arg)
|
rs2132341442
|
|
|
NM_000155.4(GALT):c.881T>A (p.Phe294Tyr)
|
rs111033781
|
|
|
NM_000155.4(GALT):c.883C>T (p.Pro295Ser)
|
|
|
|
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro)
|
rs886043498
|
|
|
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys)
|
rs775789069
|
|
|
NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)
|
rs1554709447
|
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
|
NM_000155.4(GALT):c.891C>T (p.Ser297=)
|
rs1250931166
|
|
|
NM_000155.4(GALT):c.892A>G (p.Met298Val)
|
rs1821187430
|
|
|
NM_000155.4(GALT):c.894G>A (p.Met298Ile)
|
rs1821187550
|
|
|
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180
|
|
|
NM_000155.4(GALT):c.896G>A (p.Gly299Asp)
|
|
|
|
NM_000155.4(GALT):c.899G>A (p.Trp300Ter)
|
rs1064794295
|
|
|
NM_000155.4(GALT):c.900G>A (p.Trp300Ter)
|
rs1034185619
|
|
|
NM_000155.4(GALT):c.900G>T (p.Trp300Cys)
|
|
|
|
NM_000155.4(GALT):c.904+11del
|
rs1337523880
|
|
|
NM_000155.4(GALT):c.904+15G>A
|
|
|
|
NM_000155.4(GALT):c.904+17A>G
|
|
|
|
NM_000155.4(GALT):c.904+1G>A
|
rs367543271
|
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
|
NM_000155.4(GALT):c.904+9T>C
|
rs2132345603
|
|
|
NM_000155.4(GALT):c.905-11_905-9del
|
|
|
|
NM_000155.4(GALT):c.905-13_905-12del
|
|
|
|
NM_000155.4(GALT):c.905-16C>T
|
|
|
|
NM_000155.4(GALT):c.905-19TC[2]
|
|
|
|
NM_000155.4(GALT):c.905-20G>A
|
|
|
|
NM_000155.4(GALT):c.905-2A>G
|
rs398123187
|
|
|
NM_000155.4(GALT):c.905-5G>C
|
|
|
|
NM_000155.4(GALT):c.910C>G (p.Pro304Ala)
|
|
|
|
NM_000155.4(GALT):c.910C>T (p.Pro304Ser)
|
rs2132346162
|
|
|
NM_000155.4(GALT):c.912_913insGA (p.Thr305fs)
|
|
|
|
NM_000155.4(GALT):c.912dup (p.Thr305fs)
|
rs746285782
|
|
|
NM_000155.4(GALT):c.918A>G (p.Gly306=)
|
|
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
|
NM_000155.4(GALT):c.931G>T (p.Ala311Ser)
|
|
|
|
NM_000155.4(GALT):c.933C>T (p.Ala311=)
|
rs2132346233
|
|
|
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
|
rs771975129
|
|
|
NM_000155.4(GALT):c.942C>T (p.Asn314=)
|
rs913223040
|
|
|
NM_000155.4(GALT):c.948G>A (p.Trp316Ter)
|
rs111033791
|
|
|
NM_000155.4(GALT):c.949C>T (p.Gln317Ter)
|
|
|
|
NM_000155.4(GALT):c.950A>C (p.Gln317Pro)
|
|
|
|
NM_000155.4(GALT):c.951G>A (p.Gln317=)
|
rs111033787
|
|
|
NM_000155.4(GALT):c.957C>A (p.His319Gln)
|
rs111033792
|
|
|
NM_000155.4(GALT):c.957C>G (p.His319Gln)
|
rs111033792
|
|
|
NM_000155.4(GALT):c.970C>T (p.Pro324Ser)
|
rs111033798
|
|
|
NM_000155.4(GALT):c.971C>T (p.Pro324Leu)
|
|
|
|
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
|
rs1821199784
|
|
|
NM_000155.4(GALT):c.979_986del (p.Leu327fs)
|
rs1554709502
|
|
|
NM_000155.4(GALT):c.980T>C (p.Leu327Pro)
|
rs111033832
|
|
|
NM_000155.4(GALT):c.981G>C (p.Leu327=)
|
|
|
|
NM_000155.4(GALT):c.987T>C (p.Ser329=)
|
|
|
|
NM_000155.4(GALT):c.98G>A (p.Arg33His)
|
rs111033829
|
|
|
NM_000155.4(GALT):c.993T>C (p.Thr331=)
|
rs1821200887
|
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
|
NM_000155.4(GALT):c.[413C>T;469G>A]
|
|
|
|
NM_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
|
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
|
|
|
|
NM_000158.4(GBE1):c.*12T>C
|
|
|
|
NM_000158.4(GBE1):c.*388T>A
|
rs1702416693
|
|
|
NM_000158.4(GBE1):c.*44T>A
|
rs1702420526
|
|
|
NM_000158.4(GBE1):c.*494A>C
|
rs145934828
|
|
|
NM_000158.4(GBE1):c.*494A>T
|
rs145934828
|
|
|
NM_000158.4(GBE1):c.*523T>A
|
rs113749146
|
|
|
NM_000158.4(GBE1):c.-101C>T
|
rs886058903
|
|
|
NM_000158.4(GBE1):c.-35dup
|
rs11391701
|
|
|
NM_000158.4(GBE1):c.-4G>A
|
rs1283709127
|
|
|
NM_000158.4(GBE1):c.1000= (p.Ile334=)
|
|
|
|
NM_000158.4(GBE1):c.1000del (p.Ile334fs)
|
|
|
|
NM_000158.4(GBE1):c.1005A>G (p.Leu335=)
|
rs1703918962
|
|
|
NM_000158.4(GBE1):c.1010T>A (p.Phe337Tyr)
|
|
|
|
NM_000158.4(GBE1):c.1015C>T (p.Leu339=)
|
|
|
|
NM_000158.4(GBE1):c.1023C>T (p.Asn341=)
|
rs2106957100
|
|
|
NM_000158.4(GBE1):c.1026A>C (p.Ile342=)
|
|
|
|
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
|
|
|
|
NM_000158.4(GBE1):c.1031G>A (p.Trp344Ter)
|
rs773381709
|
|
|
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu)
|
rs773381709
|
|
|
NM_000158.4(GBE1):c.1032G>A (p.Trp344Ter)
|
rs2106957076
|
|
|
NM_000158.4(GBE1):c.1034G>A (p.Trp345Ter)
|
|
|
|
NM_000158.4(GBE1):c.1044A>G (p.Glu348=)
|
rs1482348006
|
|
|
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
|
|
|
|
NM_000158.4(GBE1):c.1053del (p.Phe351fs)
|
|
|
|
NM_000158.4(GBE1):c.1068T>C (p.Phe356=)
|
|
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
|
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
|
rs2106956989
|
|
|
NM_000158.4(GBE1):c.1077T>C (p.Val359=)
|
|
|
|
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
|
|
|
|
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro)
|
rs965176553
|
|
|
NM_000158.4(GBE1):c.108G>C (p.Pro36=)
|
|
|
|
NM_000158.4(GBE1):c.1098C>T (p.His366=)
|
|
|
|
NM_000158.4(GBE1):c.1098_1099insGTGA (p.His367fs)
|
|
|
|
NM_000158.4(GBE1):c.1108+10C>T
|
|
|
|
NM_000158.4(GBE1):c.1108+18A>G
|
|
|
|
NM_000158.4(GBE1):c.1108+2T>C
|
|
|
|
NM_000158.4(GBE1):c.1108+7A>G
|
|
|
|
NM_000158.4(GBE1):c.1108+8del
|
rs2106956909
|
|
|
NM_000158.4(GBE1):c.1108+9C>T
|
|
|
|
NM_000158.4(GBE1):c.1109-13_1109-12del
|
|
|
|
NM_000158.4(GBE1):c.1109-1G>A
|
rs763258786
|
|
|
NM_000158.4(GBE1):c.1109-20A>T
|
|
|
|
NM_000158.4(GBE1):c.1109-2A>G
|
|
|
|
NM_000158.4(GBE1):c.1109-5del
|
|
|
|
NM_000158.4(GBE1):c.1109-6del
|
rs747483974
|
|
|
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
|
|
|
|
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
|
|
|
|
NM_000158.4(GBE1):c.1115del (p.Gly372fs)
|
|
|
|
NM_000158.4(GBE1):c.111C>T (p.Tyr37=)
|
|
|
|
NM_000158.4(GBE1):c.1126_1127insCGGGAGAAGTAGATTGAAGCCAGTTGATTAGGGTGCTTAGC (p.Asp376delinsAlaGlyGluValAspTer)
|
|
|
|
NM_000158.4(GBE1):c.1134T>C (p.Ser378=)
|
rs36099971
|
|
|
NM_000158.4(GBE1):c.1141_1142del (p.Phe381fs)
|
|
|
|
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
|
|
|
|
NM_000158.4(GBE1):c.1146A>G (p.Gly382=)
|
rs2106952374
|
|
|
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln)
|
rs777291512
|
|
|
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
|
|
|
|
NM_000158.4(GBE1):c.1152A>G (p.Gln384=)
|
|
|
|
NM_000158.4(GBE1):c.1155A>G (p.Val385=)
|
|
|
|
NM_000158.4(GBE1):c.1161A>G (p.Glu387=)
|
rs1161376545
|
|
|
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
|
rs2106952325
|
|
|
NM_000158.4(GBE1):c.1168T>C (p.Leu390=)
|
|
|
|
NM_000158.4(GBE1):c.1169del (p.Ala389_Leu390insTer)
|
|
|
|
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
|
rs1703871884
|
|
|
NM_000158.4(GBE1):c.1179C>G (p.Leu393=)
|
rs1703871746
|
|
|
NM_000158.4(GBE1):c.1179C>T (p.Leu393=)
|
|
|
|
NM_000158.4(GBE1):c.117G>A (p.Lys39=)
|
rs769399819
|
|
|
NM_000158.4(GBE1):c.1183T>C (p.Leu395=)
|
rs1269189934
|
|
|
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val)
|
rs1269189934
|
|
|
NM_000158.4(GBE1):c.1188A>C (p.Ala396=)
|
|
|
|
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
|
|
|
|
NM_000158.4(GBE1):c.1203C>T (p.His401=)
|
|
|
|
NM_000158.4(GBE1):c.1215C>G (p.Pro405=)
|
|
|
|
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
|
rs1434653319
|
|
|
NM_000158.4(GBE1):c.1227A>G (p.Thr409=)
|
|
|
|
NM_000158.4(GBE1):c.1236+10T>C
|
rs2106952130
|
|
|
NM_000158.4(GBE1):c.1236+11A>G
|
|
|
|
NM_000158.4(GBE1):c.1236+14G>A
|
|
|
|
NM_000158.4(GBE1):c.1236+18T>C
|
|
|
|
NM_000158.4(GBE1):c.1236+1G>A
|
|
|
|
NM_000158.4(GBE1):c.1236+9A>G
|
|
|
|
NM_000158.4(GBE1):c.1237-14G>A
|
rs745815258
|
|
|
NM_000158.4(GBE1):c.1237-16A>G
|
|
|
|
NM_000158.4(GBE1):c.1237-17G>A
|
|
|
|
NM_000158.4(GBE1):c.1237-17G>C
|
|
|
|
NM_000158.4(GBE1):c.1237-18C>G
|
|
|
|
NM_000158.4(GBE1):c.1237-19C>A
|
|
|
|
NM_000158.4(GBE1):c.1237-19C>G
|
|
|
|
NM_000158.4(GBE1):c.1237-5dup
|
rs2106945329
|
|
|
NM_000158.4(GBE1):c.1237-7G>T
|
|
|
|
NM_000158.4(GBE1):c.123C>T (p.Tyr41=)
|
|
|
|
NM_000158.4(GBE1):c.1242A>T (p.Val414=)
|
|
|
|
NM_000158.4(GBE1):c.1245A>G (p.Ser415=)
|
|
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
|
NM_000158.4(GBE1):c.1260G>C (p.Leu420=)
|
rs1703800789
|
|
|
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr)
|
rs2106945255
|
|
|
NM_000158.4(GBE1):c.1269A>G (p.Pro423=)
|
|
|
|
NM_000158.4(GBE1):c.1269_1270insC (p.Ile424fs)
|
|
|
|
NM_000158.4(GBE1):c.126C>T (p.Ala42=)
|
|
|
|
NM_000158.4(GBE1):c.1276C>T (p.Gln426Ter)
|
|
|
|
NM_000158.4(GBE1):c.1281del (p.Gly429fs)
|
|
|
|
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
|
|
|
|
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
|
rs1042856824
|
|
|
NM_000158.4(GBE1):c.1284G>T (p.Gly428=)
|
|
|
|
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
|
|
|
|
NM_000158.4(GBE1):c.129G>T (p.Val43=)
|
|
|
|
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
|
rs781086301
|
|
|
NM_000158.4(GBE1):c.1309A>G (p.Met437Val)
|
rs1288041902
|
|
|
NM_000158.4(GBE1):c.1314A>G (p.Ala438=)
|
|
|
|
NM_000158.4(GBE1):c.1315A>G (p.Ile439Val)
|
rs1357214851
|
|
|
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
|
rs1703799830
|
|
|
NM_000158.4(GBE1):c.1333C>T (p.Gln445Ter)
|
rs1703799803
|
|
|
NM_000158.4(GBE1):c.1335+10C>T
|
|
|
|
NM_000158.4(GBE1):c.1335+11A>G
|
|
|
|
NM_000158.4(GBE1):c.1335+11A>T
|
|
|
|
NM_000158.4(GBE1):c.1335+12T>C
|
|
|
|
NM_000158.4(GBE1):c.1335+14T>G
|
|
|
|
NM_000158.4(GBE1):c.1335+15A>G
|
|
|
|
NM_000158.4(GBE1):c.1335+17A>C
|
|
|
|
NM_000158.4(GBE1):c.1335+3A>C
|
|
|
|
NM_000158.4(GBE1):c.1336-10_1336-9del
|
|
|
|
NM_000158.4(GBE1):c.1336-11C>A
|
|
|
|
NM_000158.4(GBE1):c.1336-13C>G
|
|
|
|
NM_000158.4(GBE1):c.1336-13C>T
|
|
|
|
NM_000158.4(GBE1):c.1336-19T>C
|
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
|
NM_000158.4(GBE1):c.1336-4C>T
|
|
|
|
NM_000158.4(GBE1):c.1336-5T>G
|
|
|
|
NM_000158.4(GBE1):c.1336-6G>A
|
|
|
|
NM_000158.4(GBE1):c.1336-7T>G
|
|
|
|
NM_000158.4(GBE1):c.1336-7dup
|
|
|
|
NM_000158.4(GBE1):c.1336-9T>C
|
|
|
|
NM_000158.4(GBE1):c.1343_1344del (p.Lys448fs)
|
rs2106938660
|
|
|
NM_000158.4(GBE1):c.1344A>G (p.Lys448=)
|
rs2106938657
|
|
|
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
|
rs777583603
|
|
|
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
|
rs2106938627
|
|
|
NM_000158.4(GBE1):c.1364G>A (p.Trp455Ter)
|
|
|
|
NM_000158.4(GBE1):c.1365G>A (p.Trp455Ter)
|
|
|
|
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys)
|
rs2106938616
|
|
|
NM_000158.4(GBE1):c.136C>T (p.Gln46Ter)
|
|
|
|
NM_000158.4(GBE1):c.1373del (p.Gly458fs)
|
|
|
|
NM_000158.4(GBE1):c.1374C>A (p.Gly458=)
|
|
|
|
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
|
rs781667161
|
|
|
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
|
rs752100789
|
|
|
NM_000158.4(GBE1):c.1379del (p.Ile460fs)
|
|
|
|
NM_000158.4(GBE1):c.1383A>G (p.Val461=)
|
rs2106938571
|
|
|
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)
|
rs1703726090
|
|
|
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
|
|
|
|
NM_000158.4(GBE1):c.1395A>G (p.Thr465=)
|
|
|
|
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
|
rs776526697
|
|
|
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
|
|
|
|
NM_000158.4(GBE1):c.1403del (p.Arg468fs)
|
rs2106938514
|
|
|
NM_000158.4(GBE1):c.1407C>T (p.Tyr469=)
|
|
|
|
NM_000158.4(GBE1):c.1410T>G (p.Leu470=)
|
|
|
|
NM_000158.4(GBE1):c.1413A>G (p.Glu471=)
|
rs2106938489
|
|
|
NM_000158.4(GBE1):c.1416G>A (p.Lys472=)
|
|
|
|
NM_000158.4(GBE1):c.1422T>C (p.Ile474=)
|
|
|
|
NM_000158.4(GBE1):c.143+14C>T
|
|
|
|
NM_000158.4(GBE1):c.143+16C>T
|
|
|
|
NM_000158.4(GBE1):c.143+18C>G
|
|
|
|
NM_000158.4(GBE1):c.143+19C>A
|
|
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
|
NM_000158.4(GBE1):c.143+20A>G
|
|
|
|
NM_000158.4(GBE1):c.143+2T>C
|
rs2107250439
|
|
|
NM_000158.4(GBE1):c.143+8C>T
|
rs750447886
|
|
|
NM_000158.4(GBE1):c.1431A>G (p.Ala477=)
|
|
|
|
NM_000158.4(GBE1):c.1437C>T (p.Ser479=)
|
|
|
|
NM_000158.4(GBE1):c.144-12A>T
|
|
|
|
NM_000158.4(GBE1):c.144-15C>T
|
|
|
|
NM_000158.4(GBE1):c.144-1G>C
|
|
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
|
NM_000158.4(GBE1):c.1443delinsCGC (p.Gln482fs)
|
|
|
|
NM_000158.4(GBE1):c.1446+12T>C
|
|
|
|
NM_000158.4(GBE1):c.1446+20A>C
|
|
|
|
NM_000158.4(GBE1):c.1446+9A>C
|
|
|
|
NM_000158.4(GBE1):c.1447-15C>T
|
|
|
|
NM_000158.4(GBE1):c.1447-16A>G
|
|
|
|
NM_000158.4(GBE1):c.1447-19A>G
|
|
|
|
NM_000158.4(GBE1):c.1447-4G>A
|
|
|
|
NM_000158.4(GBE1):c.1447-4G>C
|
rs534847659
|
|
|
NM_000158.4(GBE1):c.1449A>T (p.Ala483=)
|
rs2106934011
|
|
|
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
|
rs771241994
|
|
|
NM_000158.4(GBE1):c.1458G>A (p.Gly486=)
|
|
|
|
NM_000158.4(GBE1):c.1464G>A (p.Lys488=)
|
|
|
|
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
|
|
|
|
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
|
rs1350341668
|
|
|
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
|
|
|
|
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
|
rs2106933948
|
|
|
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
|
rs772670028
|
|
|
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)
|
rs1703673227
|
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
|
NM_000158.4(GBE1):c.1491C>A (p.Ala497=)
|
|
|
|
NM_000158.4(GBE1):c.1491C>G (p.Ala497=)
|
rs778539439
|
|
|
NM_000158.4(GBE1):c.1494A>G (p.Glu498=)
|
rs2106933905
|
|
|
NM_000158.4(GBE1):c.1496T>A (p.Met499Lys)
|
|
|
|
NM_000158.4(GBE1):c.149del (p.Lys50fs)
|
rs2107169014
|
|
|
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser)
|
rs751466558
|
|
|
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
|
|
|
|
NM_000158.4(GBE1):c.1538_1563del (p.Ile513fs)
|
|
|
|
NM_000158.4(GBE1):c.153G>A (p.Gln51=)
|
|
|
|
NM_000158.4(GBE1):c.1542T>C (p.Asp514=)
|
|
|
|
NM_000158.4(GBE1):c.1543C>G (p.Arg515Gly)
|
|
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
|
NM_000158.4(GBE1):c.1545T>C (p.Arg515=)
|
|
|
|
NM_000158.4(GBE1):c.1548A>T (p.Gly516=)
|
|
|
|
NM_000158.4(GBE1):c.1554G>A (p.Gln518=)
|
|
|
|
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
|
rs773775991
|
|
|
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
|
|
|
|
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
|
rs1559650639
|
|
|
NM_000158.4(GBE1):c.1569del (p.Arg524fs)
|
|
|
|
NM_000158.4(GBE1):c.1570C>A (p.Arg524=)
|
|
|
|
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)
|
rs137852888
|
|
|
NM_000158.4(GBE1):c.1581G>T (p.Thr527=)
|
|
|
|
NM_000158.4(GBE1):c.1584T>C (p.His528=)
|
rs756678628
|
|
|
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp)
|
rs2106933633
|
|
|
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
|
|
|
|
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
|
rs1245333229
|
|
|
NM_000158.4(GBE1):c.1601G>T (p.Gly534Val)
|
rs2106933621
|
|
|
NM_000158.4(GBE1):c.1605T>A (p.Tyr535Ter)
|
|
|
|
NM_000158.4(GBE1):c.1608C>T (p.Leu536=)
|
|
|
|
NM_000158.4(GBE1):c.1612T>G (p.Phe538Val)
|
|
|
|
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
|
|
|
|
NM_000158.4(GBE1):c.1618+16A>T
|
|
|
|
NM_000158.4(GBE1):c.1618+1G>A
|
rs1703670302
|
|
|
NM_000158.4(GBE1):c.1618+20A>G
|
|
|
|
NM_000158.4(GBE1):c.1618+3_1618+6del
|
|
|
|
NM_000158.4(GBE1):c.1619-18A>C
|
|
|
|
NM_000158.4(GBE1):c.1619-18A>G
|
|
|
|
NM_000158.4(GBE1):c.1619-1G>A
|
rs2106872434
|
|
|
NM_000158.4(GBE1):c.1619-3C>T
|
|
|
|
NM_000158.4(GBE1):c.1619-4_1619-3insGAATTTGG
|
|
|
|
NM_000158.4(GBE1):c.1622A>G (p.Asn541Ser)
|
|
|
|
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
|
|
|
|
NM_000158.4(GBE1):c.1632G>C (p.Gly544=)
|
|
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
|
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
|
rs2106872406
|
|
|
NM_000158.4(GBE1):c.1644G>C (p.Trp548Cys)
|
rs1703086549
|
|
|
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
|
rs1281489436
|
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
|
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
|
|
|
|
NM_000158.4(GBE1):c.166T>C (p.Leu56=)
|
|
|
|
NM_000158.4(GBE1):c.1671dup (p.Glu558Ter)
|
|
|
|
NM_000158.4(GBE1):c.1675_1676del (p.Ser559fs)
|
|
|
|
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)
|
rs1412857849
|
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
|
NM_000158.4(GBE1):c.1677T>C (p.Ser559=)
|
|
|
|
NM_000158.4(GBE1):c.167del (p.Ile55_Leu56insTer)
|
|
|
|
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter)
|
rs1559637815
|
|
|
NM_000158.4(GBE1):c.1680C>G (p.Tyr560Ter)
|
|
|
|
NM_000158.4(GBE1):c.1693C>A (p.Arg565=)
|
|
|
|
NM_000158.4(GBE1):c.1698G>A (p.Gln566=)
|
|
|
|
NM_000158.4(GBE1):c.169A>T (p.Lys57Ter)
|
|
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
|
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg)
|
rs544821452
|
|
|
NM_000158.4(GBE1):c.1710T>G (p.Thr570=)
|
rs2106872244
|
|
|
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
|
|
|
|
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe)
|
rs2106872197
|
|
|
NM_000158.4(GBE1):c.1725T>C (p.Leu575=)
|
|
|
|
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
|
|
|
|
NM_000158.4(GBE1):c.1728C>G (p.Arg576=)
|
|
|
|
NM_000158.4(GBE1):c.172_173del (p.Asn58fs)
|
|
|
|
NM_000158.4(GBE1):c.1731C>T (p.Tyr577=)
|
|
|
|
NM_000158.4(GBE1):c.1734G>A (p.Lys578=)
|
|
|
|
NM_000158.4(GBE1):c.1738del (p.Phe579_Leu580insTer)
|
|
|
|
NM_000158.4(GBE1):c.1743del (p.Asn581fs)
|
|
|
|
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
|
|
|
|
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
|
|
|
|
NM_000158.4(GBE1):c.1768T>C (p.Leu590=)
|
rs1033042780
|
|
|
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
|
rs1703083660
|
|
|
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_000158.4(GBE1):c.1773A>G (p.Glu591=)
|
|
|
|
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)
|
rs137852890
|
|
|
NM_000158.4(GBE1):c.1782T>C (p.Tyr594=)
|
rs2106872059
|
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
|
NM_000158.4(GBE1):c.1799_1803+8del
|
|
|
|
NM_000158.4(GBE1):c.1803+11C>T
|
|
|
|
NM_000158.4(GBE1):c.1803+17G>A
|
|
|
|
NM_000158.4(GBE1):c.1803+17G>T
|
|
|
|
NM_000158.4(GBE1):c.1803+18G>A
|
|
|
|
NM_000158.4(GBE1):c.1803+19A>T
|
|
|
|
NM_000158.4(GBE1):c.1803+1G>A
|
rs1273791312
|
|
|
NM_000158.4(GBE1):c.1803+5G>T
|
|
|
|
NM_000158.4(GBE1):c.1804-13C>T
|
|
|
|
NM_000158.4(GBE1):c.1804-16G>A
|
|
|
|
NM_000158.4(GBE1):c.1804-16G>C
|
|
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
|
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
|
rs1343991404
|
|
|
NM_000158.4(GBE1):c.180A>C (p.Gly60=)
|
|
|
|
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
|
|
|
|
NM_000158.4(GBE1):c.1821A>G (p.Lys607=)
|
rs2106869704
|
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
|
NM_000158.4(GBE1):c.1831A>C (p.Asn611His)
|
rs2106869674
|
|
|
NM_000158.4(GBE1):c.1836G>A (p.Lys612=)
|
|
|
|
NM_000158.4(GBE1):c.1839C>T (p.Ile613=)
|
rs535185036
|
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
|
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
|
|
|
|
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
|
|
|
|
NM_000158.4(GBE1):c.1854del (p.Ala619fs)
|
|
|
|
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del)
|
rs1576137368
|
|
|
NM_000158.4(GBE1):c.1861_1875CTT[2]TTCATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTTTCATTTTC[1] (p.Asn626delinsPhePhePhePhePhePheXaaXaaXaaXaaCysTer)
|
rs2106869587
|
|
|
NM_000158.4(GBE1):c.1878C>T (p.Asn626=)
|
|
|
|
NM_000158.4(GBE1):c.1893G>A (p.Lys631=)
|
|
|
|
NM_000158.4(GBE1):c.18T>A (p.Thr6=)
|
rs2107250932
|
|
|
NM_000158.4(GBE1):c.18T>C (p.Thr6=)
|
rs2107250932
|
|
|
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
|
rs754115580
|
|
|
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
|
|
|
|
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
|
rs2106869498
|
|
|
NM_000158.4(GBE1):c.1929A>G (p.Pro643=)
|
|
|
|
NM_000158.4(GBE1):c.1934+12G>C
|
|
|
|
NM_000158.4(GBE1):c.1934+1A>G
|
|
|
|
NM_000158.4(GBE1):c.1934+2T>A
|
rs752625236
|
|
|
NM_000158.4(GBE1):c.1934+2T>C
|
|
|
|
NM_000158.4(GBE1):c.1935-10A>G
|
rs755109777
|
|
|
NM_000158.4(GBE1):c.1935-14C>T
|
|
|
|
NM_000158.4(GBE1):c.1935-1C>A
|
|
|
|
NM_000158.4(GBE1):c.1935-1C>T
|
rs1475447884
|
|
|
NM_000158.4(GBE1):c.1935-2A>G
|
|
|
|
NM_000158.4(GBE1):c.1935-2del
|
rs2106810015
|
|
|
NM_000158.4(GBE1):c.1935-7G>C
|
rs1474858058
|
|
|
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
|
|
|
|
NM_000158.4(GBE1):c.1941A>G (p.Lys647=)
|
rs1039372291
|
|
|
NM_000158.4(GBE1):c.1950A>G (p.Leu650=)
|
rs2106809976
|
|
|
NM_000158.4(GBE1):c.1961_1962del (p.Ala654fs)
|
rs2106809957
|
|
|
NM_000158.4(GBE1):c.1962A>G (p.Ala654=)
|
|
|
|
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
|
|
|
|
NM_000158.4(GBE1):c.1980T>C (p.His660=)
|
|
|
|
NM_000158.4(GBE1):c.1986A>G (p.Arg662=)
|
rs2106809904
|
|
|
NM_000158.4(GBE1):c.1989G>T (p.Leu663=)
|
|
|
|
NM_000158.4(GBE1):c.1992C>T (p.Asp664=)
|
rs780527478
|
|
|
NM_000158.4(GBE1):c.19C>T (p.Pro7Ser)
|
rs1401990930
|
|
|
NM_000158.4(GBE1):c.1_18dup (p.Thr6_Pro7insMetAlaAlaProMetThr)
|
|
|
|
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
|
rs757815784
|
|
|
NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu)
|
rs2106809858
|
|
|
NM_000158.4(GBE1):c.2011del (p.Ser671fs)
|
|
|
|
NM_000158.4(GBE1):c.2028T>C (p.His676=)
|
rs2106809824
|
|
|
NM_000158.4(GBE1):c.202_203del (p.Lys68fs)
|
rs1705761854
|
|
|
NM_000158.4(GBE1):c.2040C>T (p.Pro680=)
|
|
|
|
NM_000158.4(GBE1):c.2052+19A>G
|
|
|
|
NM_000158.4(GBE1):c.2052+1G>A
|
rs2106809795
|
|
|
NM_000158.4(GBE1):c.2052+1G>T
|
rs2106809795
|
|
|
NM_000158.4(GBE1):c.2052+20T>A
|
|
|
|
NM_000158.4(GBE1):c.2052+20T>C
|
|
|
|
NM_000158.4(GBE1):c.2053-19C>T
|
|
|
|
NM_000158.4(GBE1):c.2053-3350G>C
|
|
|
|
NM_000158.4(GBE1):c.2053-3351G>A
|
rs2106802092
|
|
|
NM_000158.4(GBE1):c.2053-3354G>T
|
|
|
|
NM_000158.4(GBE1):c.2053-3358G>T
|
rs1702468173
|
|
|
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT
|
rs869320698
|
|
|
NM_000158.4(GBE1):c.2053-3372del
|
rs34052684
|
|
|
NM_000158.4(GBE1):c.2053-3382dup
|
rs34052684
|
|
|
NM_000158.4(GBE1):c.2053-4G>A
|
rs185009612
|
|
|
NM_000158.4(GBE1):c.2053-4G>C
|
rs185009612
|
|
|
NM_000158.4(GBE1):c.2053-4G>T
|
rs185009612
|
|
|
NM_000158.4(GBE1):c.2053-5C>T
|
|
|
|
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
|
rs2106796993
|
|
|
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
|
|
|
|
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
|
rs1173853844
|
|
|
NM_000158.4(GBE1):c.2073G>T (p.Val691=)
|
|
|
|
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
|
rs1337608522
|
|
|
NM_000158.4(GBE1):c.2106T>C (p.Asn702=)
|
|
|
|
NM_000158.4(GBE1):c.211A>C (p.Arg71=)
|
rs1576206635
|
|
|
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
|
rs2107168870
|
|
|
NM_000158.4(GBE1):c.227T>C (p.Phe76Ser)
|
rs1267044758
|
|
|
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
|
|
|
|
NM_000158.4(GBE1):c.22G>T (p.Ala8Ser)
|
rs1297879927
|
|
|
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
|
|
|
|
NM_000158.4(GBE1):c.249T>C (p.Asp83=)
|
|
|
|
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
|
rs1705760813
|
|
|
NM_000158.4(GBE1):c.261C>T (p.Tyr87=)
|
|
|
|
NM_000158.4(GBE1):c.26del (p.Ala9fs)
|
|
|
|
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
|
rs1576206589
|
|
|
NM_000158.4(GBE1):c.274del (p.Ala92fs)
|
|
|
|
NM_000158.4(GBE1):c.276C>T (p.Ala92=)
|
|
|
|
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
|
|
|
|
NM_000158.4(GBE1):c.288del (p.Gly97fs)
|
rs1057517315
|
|
|
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
|
|
|
|
NM_000158.4(GBE1):c.303T>C (p.Thr101=)
|
rs2107168711
|
|
|
NM_000158.4(GBE1):c.309T>C (p.Asp103=)
|
rs2107168700
|
|
|
NM_000158.4(GBE1):c.313+10dup
|
rs2107168668
|
|
|
NM_000158.4(GBE1):c.313+16_313+17dup
|
|
|
|
NM_000158.4(GBE1):c.313+17A>G
|
|
|
|
NM_000158.4(GBE1):c.313+17A>T
|
|
|
|
NM_000158.4(GBE1):c.313+18T>C
|
|
|
|
NM_000158.4(GBE1):c.313+20G>T
|
|
|
|
NM_000158.4(GBE1):c.313+8C>G
|
rs773124221
|
|
|
NM_000158.4(GBE1):c.313+8C>T
|
|
|
|
NM_000158.4(GBE1):c.314-13T>C
|
|
|
|
NM_000158.4(GBE1):c.314-13_314-11del
|
|
|
|
NM_000158.4(GBE1):c.314-18T>C
|
|
|
|
NM_000158.4(GBE1):c.314-1G>C
|
|
|
|
NM_000158.4(GBE1):c.314-2A>G
|
rs2107114825
|
|
|
NM_000158.4(GBE1):c.314-8T>A
|
rs2107114832
|
|
|
NM_000158.4(GBE1):c.317del (p.Gly106fs)
|
rs2107114812
|
|
|
NM_000158.4(GBE1):c.321G>A (p.Trp107Ter)
|
rs2107114808
|
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
|
NM_000158.4(GBE1):c.333G>C (p.Ser111=)
|
rs374518318
|
|
|
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
|
rs374518318
|
|
|
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
|
rs773473771
|
|
|
NM_000158.4(GBE1):c.339A>C (p.Pro113=)
|
|
|
|
NM_000158.4(GBE1):c.339A>G (p.Pro113=)
|
rs1375726428
|
|
|
NM_000158.4(GBE1):c.33C>G (p.Pro11=)
|
rs773585404
|
|
|
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu)
|
rs1705180182
|
|
|
NM_000158.4(GBE1):c.348dup (p.Leu117fs)
|
|
|
|
NM_000158.4(GBE1):c.34G>T (p.Glu12Ter)
|
|
|
|
NM_000158.4(GBE1):c.351G>A (p.Leu117=)
|
rs749666538
|
|
|
NM_000158.4(GBE1):c.367G>T (p.Glu123Ter)
|
|
|
|
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
|
rs2107114689
|
|
|
NM_000158.4(GBE1):c.36G>A (p.Glu12=)
|
rs1024161275
|
|
|
NM_000158.4(GBE1):c.378C>T (p.Ile126=)
|
|
|
|
NM_000158.4(GBE1):c.387G>A (p.Lys129=)
|
|
|
|
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
|
|
|
|
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
|
|
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
|
NM_000158.4(GBE1):c.429+12C>G
|
|
|
|
NM_000158.4(GBE1):c.429+12C>T
|
|
|
|
NM_000158.4(GBE1):c.429+13C>G
|
|
|
|
NM_000158.4(GBE1):c.429+18A>G
|
|
|
|
NM_000158.4(GBE1):c.429+8C>G
|
|
|
|
NM_000158.4(GBE1):c.429+9C>G
|
|
|
|
NM_000158.4(GBE1):c.429+9C>T
|
|
|
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
|
|
|
NM_000158.4(GBE1):c.42C>T (p.Tyr14=)
|
rs1328296506
|
|
|
NM_000158.4(GBE1):c.430-10C>T
|
|
|
|
NM_000158.4(GBE1):c.430-15T>C
|
|
|
|
NM_000158.4(GBE1):c.430-18A>G
|
|
|
|
NM_000158.4(GBE1):c.430-18A>T
|
|
|
|
NM_000158.4(GBE1):c.430-1G>C
|
|
|
|
NM_000158.4(GBE1):c.430-7T>C
|
|
|
|
NM_000158.4(GBE1):c.430-8C>T
|
|
|
|
NM_000158.4(GBE1):c.430-9T>C
|
|
|
|
NM_000158.4(GBE1):c.432A>G (p.Val144=)
|
rs2107074991
|
|
|
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)
|
rs774709930
|
|
|
NM_000158.4(GBE1):c.441T>C (p.Thr147=)
|
|
|
|
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_000158.4(GBE1):c.456G>A (p.Glu152=)
|
rs1364827182
|
|
|
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
|
rs2107074898
|
|
|
NM_000158.4(GBE1):c.466_470del (p.Arg156fs)
|
rs2107074878
|
|
|
NM_000158.4(GBE1):c.477G>T (p.Pro159=)
|
|
|
|
NM_000158.4(GBE1):c.47del (p.Ala16fs)
|
rs2107250805
|
|
|
NM_000158.4(GBE1):c.480G>A (p.Trp160Ter)
|
rs776943352
|
|
|
NM_000158.4(GBE1):c.48G>A (p.Ala16=)
|
|
|
|
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
|
|
|
|
NM_000158.4(GBE1):c.498T>C (p.Arg166=)
|
|
|
|
NM_000158.4(GBE1):c.505del (p.Asp169fs)
|
rs1370223073
|
|
|
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
|
|
|
|
NM_000158.4(GBE1):c.522T>C (p.Asp174=)
|
|
|
|
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
|
|
|
|
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
|
|
|
|
NM_000158.4(GBE1):c.543A>G (p.Glu181=)
|
|
|
|
NM_000158.4(GBE1):c.549A>C (p.Ser183=)
|
rs1489092127
|
|
|
NM_000158.4(GBE1):c.552T>C (p.Tyr184=)
|
rs1576185089
|
|
|
NM_000158.4(GBE1):c.555+10A>G
|
|
|
|
NM_000158.4(GBE1):c.555+11_555+19dup
|
|
|
|
NM_000158.4(GBE1):c.555+12A>C
|
|
|
|
NM_000158.4(GBE1):c.555+14del
|
rs573234623
|
|
|
NM_000158.4(GBE1):c.555+20A>G
|
|
|
|
NM_000158.4(GBE1):c.555+20A>T
|
|
|
|
NM_000158.4(GBE1):c.556-11A>T
|
|
|
|
NM_000158.4(GBE1):c.556-12T>C
|
|
|
|
NM_000158.4(GBE1):c.556-19A>G
|
|
|
|
NM_000158.4(GBE1):c.556-19A>T
|
|
|
|
NM_000158.4(GBE1):c.556-1G>A
|
|
|
|
NM_000158.4(GBE1):c.556-20C>T
|
|
|
|
NM_000158.4(GBE1):c.556-2A>G
|
|
|
|
NM_000158.4(GBE1):c.556-4G>A
|
rs377175400
|
|
|
NM_000158.4(GBE1):c.556-8T>C
|
|
|
|
NM_000158.4(GBE1):c.556-9A>G
|
rs756607435
|
|
|
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
|
|
|
|
NM_000158.4(GBE1):c.573A>G (p.Pro191=)
|
rs2107072385
|
|
|
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
|
|
|
|
NM_000158.4(GBE1):c.585G>A (p.Arg195=)
|
|
|
|
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
|
|
|
|
NM_000158.4(GBE1):c.603A>G (p.Glu201=)
|
|
|
|
NM_000158.4(GBE1):c.608_609del (p.His203fs)
|
|
|
|
NM_000158.4(GBE1):c.60C>A (p.Ala20=)
|
rs781174947
|
|
|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
|
|
NM_000158.4(GBE1):c.612G>A (p.Val204=)
|
|
|
|
NM_000158.4(GBE1):c.627T>C (p.His209=)
|
rs1704806575
|
|
|
NM_000158.4(GBE1):c.636A>G (p.Lys212=)
|
|
|
|
NM_000158.4(GBE1):c.639A>G (p.Val213=)
|
|
|
|
NM_000158.4(GBE1):c.63C>T (p.Ala21=)
|
rs2107250762
|
|
|
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
|
|
|
|
NM_000158.4(GBE1):c.646dup (p.Tyr216fs)
|
|
|
|
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
|
|
NM_000158.4(GBE1):c.648T>A (p.Tyr216Ter)
|
|
|
|
NM_000158.4(GBE1):c.651A>G (p.Lys217=)
|
rs1704806079
|
|
|
NM_000158.4(GBE1):c.654T>C (p.His218=)
|
rs753853692
|
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
|
NM_000158.4(GBE1):c.666T>C (p.Asn222=)
|
|
|
|
NM_000158.4(GBE1):c.669A>T (p.Val223=)
|
|
|
|
NM_000158.4(GBE1):c.66G>A (p.Leu22=)
|
rs2107250748
|
|
|
NM_000158.4(GBE1):c.672A>G (p.Leu224=)
|
|
|
|
NM_000158.4(GBE1):c.691+15_691+16del
|
|
|
|
NM_000158.4(GBE1):c.691+1G>A
|
|
|
|
NM_000158.4(GBE1):c.691+1G>T
|
|
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
|
NM_000158.4(GBE1):c.691+8A>G
|
|
|
|
NM_000158.4(GBE1):c.692-10C>G
|
rs2107066201
|
|
|
NM_000158.4(GBE1):c.692-17A>G
|
|
|
|
NM_000158.4(GBE1):c.692-1G>A
|
|
|
|
NM_000158.4(GBE1):c.692-9dup
|
|
|
|
NM_000158.4(GBE1):c.693A>G (p.Gly231=)
|
|
|
|
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
|
|
|
|
NM_000158.4(GBE1):c.69T>C (p.Ala23=)
|
|
|
|
NM_000158.4(GBE1):c.6G>T (p.Ala2=)
|
|
|
|
NM_000158.4(GBE1):c.708G>A (p.Gln236=)
|
|
|
|
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
|
|
|
|
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
|
rs868766244
|
|
|
NM_000158.4(GBE1):c.720C>T (p.Ile240=)
|
|
|
|
NM_000158.4(GBE1):c.72C>T (p.Asp24=)
|
|
|
|
NM_000158.4(GBE1):c.733T>C (p.Tyr245His)
|
rs2107066005
|
|
|
NM_000158.4(GBE1):c.748G>T (p.Gly250Cys)
|
|
|
|
NM_000158.4(GBE1):c.753C>G (p.Tyr251Ter)
|
|
|
|
NM_000158.4(GBE1):c.754C>T (p.Gln252Ter)
|
|
|
|
NM_000158.4(GBE1):c.755_756delinsC (p.Gln252fs)
|
|
|
|
NM_000158.4(GBE1):c.757A>G (p.Ile253Val)
|
rs2107065942
|
|
|
NM_000158.4(GBE1):c.75G>A (p.Val25=)
|
rs1390802875
|
|
|
NM_000158.4(GBE1):c.762A>G (p.Thr254=)
|
|
|
|
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
|
rs1480699088
|
|
|
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)
|
rs1576183537
|
|
|
NM_000158.4(GBE1):c.774A>C (p.Ala258=)
|
|
|
|
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly)
|
rs1576183525
|
|
|
NM_000158.4(GBE1):c.782+18T>C
|
|
|
|
NM_000158.4(GBE1):c.782+19T>C
|
|
|
|
NM_000158.4(GBE1):c.782+20G>A
|
|
|
|
NM_000158.4(GBE1):c.783-11T>C
|
|
|
|
NM_000158.4(GBE1):c.783-12C>T
|
|
|
|
NM_000158.4(GBE1):c.783-1G>A
|
rs397515342
|
|
|
NM_000158.4(GBE1):c.783-7T>C
|
rs528473675
|
|
|
NM_000158.4(GBE1):c.783-8A>C
|
|
|
|
NM_000158.4(GBE1):c.783C>A (p.Ser261Arg)
|
|
|
|
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg)
|
rs1559673607
|
|
|
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
|
rs1559673593
|
|
|
NM_000158.4(GBE1):c.78C>G (p.Pro26=)
|
rs1575782131
|
|
|
NM_000158.4(GBE1):c.78C>T (p.Pro26=)
|
rs1575782131
|
|
|
NM_000158.4(GBE1):c.790G>A (p.Gly264Arg)
|
|
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
|
NM_000158.4(GBE1):c.791G>C (p.Gly264Ala)
|
|
|
|
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
|
rs2107059886
|
|
|
NM_000158.4(GBE1):c.792A>T (p.Gly264=)
|
|
|
|
NM_000158.4(GBE1):c.793A>G (p.Thr265Ala)
|
|
|
|
NM_000158.4(GBE1):c.804G>A (p.Glu268=)
|
|
|
|
NM_000158.4(GBE1):c.805C>T (p.Leu269=)
|
|
|
|
NM_000158.4(GBE1):c.807A>G (p.Leu269=)
|
rs760271506
|
|
|
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
|
|
|
|
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
|
|
|
|
NM_000158.4(GBE1):c.810A>G (p.Gln270=)
|
|
|
|
NM_000158.4(GBE1):c.810_811delinsTT (p.Gln270_Glu271delinsHisTer)
|
rs2107059792
|
|
|
NM_000158.4(GBE1):c.811G>T (p.Glu271Ter)
|
|
|
|
NM_000158.4(GBE1):c.813A>G (p.Glu271=)
|
|
|
|
NM_000158.4(GBE1):c.814C>T (p.Leu272=)
|
rs1217155813
|
|
|
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
|
rs2107059776
|
|
|
NM_000158.4(GBE1):c.825A>G (p.Thr275=)
|
|
|
|
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
|
rs2107059770
|
|
|
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro)
|
rs2107059765
|
|
|
NM_000158.4(GBE1):c.828T>C (p.Ala276=)
|
|
|
|
NM_000158.4(GBE1):c.82C>T (p.Leu28=)
|
|
|
|
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe)
|
rs2107059729
|
|
|
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
|
rs959259894
|
|
|
NM_000158.4(GBE1):c.849C>G (p.Val283=)
|
rs1704706491
|
|
|
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
|
rs2107250695
|
|
|
NM_000158.4(GBE1):c.854T>G (p.Leu285Ter)
|
|
|
|
NM_000158.4(GBE1):c.872_874delinsTT (p.His291fs)
|
|
|
|
NM_000158.4(GBE1):c.873T>C (p.His291=)
|
|
|
|
NM_000158.4(GBE1):c.876T>A (p.Ala292=)
|
rs778351872
|
|
|
NM_000158.4(GBE1):c.876T>C (p.Ala292=)
|
|
|
|
NM_000158.4(GBE1):c.885T>C (p.Asn295=)
|
|
|
|
NM_000158.4(GBE1):c.891A>G (p.Ala297=)
|
rs2107059577
|
|
|
NM_000158.4(GBE1):c.905T>C (p.Met302Thr)
|
rs1189654498
|
|
|
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
|
rs1309818317
|
|
|
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
|
rs2107059544
|
|
|
NM_000158.4(GBE1):c.90A>G (p.Arg30=)
|
|
|
|
NM_000158.4(GBE1):c.915G>A (p.Gly305=)
|
|
|
|
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
|
|
|
|
NM_000158.4(GBE1):c.930T>C (p.Tyr310=)
|
|
|
|
NM_000158.4(GBE1):c.93C>G (p.Leu31=)
|
|
|
|
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
|
rs2107059484
|
|
|
NM_000158.4(GBE1):c.945T>C (p.Pro315=)
|
rs2107059475
|
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
|
NM_000158.4(GBE1):c.951G>A (p.Gly317=)
|
rs1704704915
|
|
|
NM_000158.4(GBE1):c.955C>G (p.His319Asp)
|
|
|
|
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
|
rs1490328834
|
|
|
NM_000158.4(GBE1):c.957_958insCTAT (p.Asp320delinsLeuTer)
|
|
|
|
NM_000158.4(GBE1):c.966G>A (p.Trp322Ter)
|
rs1559673456
|
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
|
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)
|
|
|
|
NM_000158.4(GBE1):c.985T>C (p.Tyr329His)
|
|
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
|
NM_000158.4(GBE1):c.992+14A>G
|
|
|
|
NM_000158.4(GBE1):c.992+18A>G
|
|
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
|
NM_000158.4(GBE1):c.993-10T>C
|
rs2106957202
|
|
|
NM_000158.4(GBE1):c.993-13T>C
|
|
|
|
NM_000158.4(GBE1):c.993-14C>T
|
|
|
|
NM_000158.4(GBE1):c.993-17T>A
|
|
|
|
NM_000158.4(GBE1):c.993-17T>C
|
|
|
|
NM_000158.4(GBE1):c.993-1dup
|
|
|
|
NM_000158.4(GBE1):c.993-20A>C
|
|
|
|
NM_000158.4(GBE1):c.993-2A>G
|
|
|
|
NM_000158.4(GBE1):c.993-7A>T
|
rs1703919275
|
|
|
NM_000158.4(GBE1):c.993-9A>G
|
rs2106957192
|
|
|
NM_000158.4(GBE1):c.993-9A>T
|
rs2106957192
|
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|
|
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)
|
rs1553684545
|
|
|
NM_000158.4(GBE1):c.99G>A (p.Glu33=)
|
rs2107250624
|
|
|
NM_000158.4(GBE1):c.9T>G (p.Ala3=)
|
|
|
|
NM_000158.4:c.430_782del
|
|
|
|
NM_000162.3(GCK):c.1255_1264delTTCAAGGAGC
|
rs2096270755
|
|
|
NM_000162.5(GCK):c.*270C>T
|
rs886062348
|
|
|
NM_000162.5(GCK):c.*548G>A
|
rs886062347
|
|
|
NM_000162.5(GCK):c.*721C>T
|
rs886062346
|
|
|
NM_000162.5(GCK):c.*844A>C
|
rs886062344
|
|
|
NM_000162.5(GCK):c.-102G>C
|
rs781377703
|
|
|
NM_000162.5(GCK):c.-137C>G
|
rs2096324530
|
|
|
NM_000162.5(GCK):c.-217C>G
|
rs73691419
|
|
|
NM_000162.5(GCK):c.-267G>T
|
rs59914952
|
|
|
NM_000162.5(GCK):c.-396C>G
|
rs2096324894
|
|
|
NM_000162.5(GCK):c.-429G>A
|
|
|
|
NM_000162.5(GCK):c.-449G>T
|
rs1375544246
|
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
|
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet)
|
rs193922252
|
|
|
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)
|
rs193922253
|
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
|
NM_000162.5(GCK):c.1007C>A (p.Ser336Ter)
|
|
|
|
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys)
|
rs397514580
|
|
|
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)
|
rs954171452
|
|
|
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly)
|
rs193922255
|
|
|
NM_000162.5(GCK):c.1019+16G>A
|
rs193922256
|
|
|
NM_000162.5(GCK):c.1019+16G>T
|
rs193922256
|
|
|
NM_000162.5(GCK):c.1019+20G>A
|
|
|
|
NM_000162.5(GCK):c.1019+275del
|
rs5883890
|
|
|
NM_000162.5(GCK):c.1019+2T>C
|
|
|
|
NM_000162.5(GCK):c.1019+2T>G
|
rs193929376
|
|
|
NM_000162.5(GCK):c.1019G>A (p.Ser340Asn)
|
rs1376631949
|
|
|
NM_000162.5(GCK):c.1019G>C (p.Ser340Thr)
|
|
|
|
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile)
|
rs1376631949
|
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
|
NM_000162.5(GCK):c.1020-10C>T
|
rs193922257
|
|
|
NM_000162.5(GCK):c.1020-1G>A
|
rs193922258
|
|
|
NM_000162.5(GCK):c.1020-1G>C
|
rs193922258
|
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
|
NM_000162.5(GCK):c.102G>A (p.Met34Ile)
|
rs2096283252
|
|
|
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)
|
rs864321656
|
|
|
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)
|
rs1583592247
|
|
|
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly)
|
rs2096271919
|
|
|
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)
|
rs193922259
|
|
|
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)
|
rs1562713041
|
|
|
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)
|
rs1583592156
|
|
|
NM_000162.5(GCK):c.1077del (p.Ser360fs)
|
|
|
|
NM_000162.5(GCK):c.1079C>A (p.Ser360Ter)
|
rs2128819357
|
|
|
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)
|
|
|
|
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)
|
rs193922261
|
|
|
NM_000162.5(GCK):c.1085C>T (p.Thr362Ile)
|
rs2096271812
|
|
|
NM_000162.5(GCK):c.1086C>T (p.Thr362=)
|
|
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
|
NM_000162.5(GCK):c.108G>A (p.Arg36=)
|
rs754169218
|
|
|
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe)
|
rs587780343
|
|
|
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)
|
rs556581174
|
|
|
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)
|
rs193922262
|
|
|
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
|
rs1415041911
|
|
|
NM_000162.5(GCK):c.1123T>A (p.Ser375Thr)
|
rs1454408814
|
|
|
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)
|
rs193922263
|
|
|
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
|
|
|
|
NM_000162.5(GCK):c.112C>T (p.Gln38Ter)
|
rs878853246
|
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
|
NM_000162.5(GCK):c.1130_1138del (p.Arg377_Ala379del)
|
rs1131691505
|
|
|
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr)
|
rs104894016
|
|
|
NM_000162.5(GCK):c.1133C>A (p.Ala378Asp)
|
|
|
|
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)
|
rs193929374
|
|
|
NM_000162.5(GCK):c.1133C>T (p.Ala378Val)
|
rs193929374
|
|
|
NM_000162.5(GCK):c.1133_1149del (p.Ala378fs)
|
rs1554334610
|
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
|
NM_000162.5(GCK):c.1137G>A (p.Ala379=)
|
|
|
|
NM_000162.5(GCK):c.1139A>C (p.His380Pro)
|
rs2128819280
|
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
|
NM_000162.5(GCK):c.1141_1142del (p.Met381fs)
|
|
|
|
NM_000162.5(GCK):c.1144T>C (p.Cys382Arg)
|
rs1554334613
|
|
|
NM_000162.5(GCK):c.1145G>C (p.Cys382Ser)
|
|
|
|
NM_000162.5(GCK):c.1146C>A (p.Cys382Ter)
|
rs1583591809
|
|
|
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu)
|
rs777870079
|
|
|
NM_000162.5(GCK):c.1148del (p.Ser383fs)
|
rs2096271597
|
|
|
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
|
rs1376620210
|
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
|
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)
|
rs193922267
|
|
|
NM_000162.5(GCK):c.1154G>A (p.Gly385Glu)
|
rs2096271537
|
|
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
|
NM_000162.5(GCK):c.1156C>G (p.Leu386Val)
|
rs1583591700
|
|
|
NM_000162.5(GCK):c.1156del (p.Leu386fs)
|
|
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
|
NM_000162.5(GCK):c.115_117del (p.Lys39del)
|
rs2096283216
|
|
|
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu)
|
rs193921338
|
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
|
NM_000162.5(GCK):c.1161G>C (p.Ala387=)
|
|
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
|
NM_000162.5(GCK):c.1163dup (p.Val389fs)
|
rs886042015
|
|
|
NM_000162.5(GCK):c.1165G>C (p.Val389Leu)
|
rs1350717554
|
|
|
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn)
|
rs193921340
|
|
|
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr)
|
rs193921340
|
|
|
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys)
|
rs1554334579
|
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
|
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)
|
rs193922269
|
|
|
NM_000162.5(GCK):c.1178T>C (p.Met393Thr)
|
rs2096271425
|
|
|
NM_000162.5(GCK):c.117G>A (p.Lys39=)
|
rs193922270
|
|
|
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
|
|
|
|
NM_000162.5(GCK):c.118G>A (p.Glu40Lys)
|
rs794727236
|
|
|
NM_000162.5(GCK):c.1190G>A (p.Arg397His)
|
rs193929375
|
|
|
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)
|
rs193929375
|
|
|
NM_000162.5(GCK):c.1190_1253+11dup
|
|
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
|
NM_000162.5(GCK):c.1219G>A (p.Gly407Ser)
|
rs2096271295
|
|
|
NM_000162.5(GCK):c.121A>G (p.Met41Val)
|
rs1583604693
|
|
|
NM_000162.5(GCK):c.1229G>T (p.Gly410Val)
|
rs1554334546
|
|
|
NM_000162.5(GCK):c.122T>G (p.Met41Arg)
|
|
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
|
NM_000162.5(GCK):c.1233C>G (p.Ser411=)
|
rs755112715
|
|
|
NM_000162.5(GCK):c.1235T>G (p.Val412Gly)
|
rs1554334539
|
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
|
NM_000162.5(GCK):c.1247A>C (p.His416Pro)
|
rs1583591303
|
|
|
NM_000162.5(GCK):c.1247A>G (p.His416Arg)
|
|
|
|
NM_000162.5(GCK):c.124G>C (p.Asp42His)
|
rs1562719786
|
|
|
NM_000162.5(GCK):c.1251del (p.Ser418fs)
|
rs2128819092
|
|
|
NM_000162.5(GCK):c.1253+1G>C
|
|
|
|
NM_000162.5(GCK):c.1253+2T>A
|
rs1057524902
|
|
|
NM_000162.5(GCK):c.1253+2T>G
|
rs1057524902
|
|
|
NM_000162.5(GCK):c.1253+3G>T
|
rs911506580
|
|
|
NM_000162.5(GCK):c.1254-20_1312del
|
rs2096270578
|
|
|
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu)
|
rs1554334478
|
|
|
NM_000162.5(GCK):c.1256del (p.Phe419fs)
|
|
|
|
NM_000162.5(GCK):c.1260G>T (p.Lys420Asn)
|
|
|
|
NM_000162.5(GCK):c.1261G>T (p.Glu421Ter)
|
|
|
|
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
|
rs1257648811
|
|
|
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
|
|
|
|
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro)
|
rs1010302320
|
|
|
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)
|
rs193922273
|
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
|
|
|
NM_000162.5(GCK):c.1278_1279del (p.Val427fs)
|
rs2128818859
|
|
|
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
|
rs193922274
|
|
|
NM_000162.5(GCK):c.127C>T (p.Arg43Cys)
|
rs1486280029
|
|
|
NM_000162.5(GCK):c.1280T>G (p.Val427Gly)
|
rs1562712097
|
|
|
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)
|
rs2096270699
|
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
|
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)
|
rs2096270423
|
|
|
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
|
|
|
|
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)
|
rs193922277
|
|
|
NM_000162.5(GCK):c.128G>A (p.Arg43His)
|
rs764232985
|
|
|
NM_000162.5(GCK):c.1295_1297delinsGCCG (p.Pro432fs)
|
|
|
|
NM_000162.5(GCK):c.1297_1300dup (p.Cys434Ter)
|
|
|
|
NM_000162.5(GCK):c.1303_1306dup (p.Ile436fs)
|
|
|
|
NM_000162.5(GCK):c.1305dup (p.Ile436fs)
|
|
|
|
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn)
|
rs193922278
|
|
|
NM_000162.5(GCK):c.1307_1319del (p.Ile436fs)
|
|
|
|
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro)
|
rs2096270595
|
|
|
NM_000162.5(GCK):c.1309_1310del (p.Thr437fs)
|
|
|
|
NM_000162.5(GCK):c.130G>A (p.Gly44Ser)
|
rs267601516
|
|
|
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser)
|
rs1185622190
|
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
|
NM_000162.5(GCK):c.1312T>G (p.Phe438Val)
|
rs2128818820
|
|
|
NM_000162.5(GCK):c.1317C>T (p.Ile439=)
|
rs1554334455
|
|
|
NM_000162.5(GCK):c.131G>A (p.Gly44Asp)
|
rs193922279
|
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
|
NM_000162.5(GCK):c.1327G>T (p.Glu443Ter)
|
rs1562711915
|
|
|
NM_000162.5(GCK):c.132C>T (p.Gly44=)
|
|
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
|
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)
|
rs1131691416
|
|
|
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)
|
rs193922282
|
|
|
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
|
|
|
|
NM_000162.5(GCK):c.134T>C (p.Leu45Pro)
|
rs1131691598
|
|
|
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)
|
rs1583590383
|
|
|
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
|
|
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
|
NM_000162.5(GCK):c.1359G>T (p.Ser453=)
|
|
|
|
NM_000162.5(GCK):c.1360del (p.Ala454fs)
|
rs1583590393
|
|
|
NM_000162.5(GCK):c.1363G>A (p.Val455Met)
|
rs104894012
|
|
|
NM_000162.5(GCK):c.1367C>T (p.Ala456Val)
|
rs104894014
|
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
|
NM_000162.5(GCK):c.1378del (p.Ala460fs)
|
|
|
|
NM_000162.5(GCK):c.137G>A (p.Arg46Lys)
|
rs1064796993
|
|
|
NM_000162.5(GCK):c.137G>T (p.Arg46Met)
|
rs1064796993
|
|
|
NM_000162.5(GCK):c.1389G>A (p.Leu463=)
|
|
|
|
NM_000162.5(GCK):c.146C>A (p.Thr49Asn)
|
rs193922286
|
|
|
NM_000162.5(GCK):c.148C>T (p.His50Tyr)
|
rs1562719705
|
|
|
NM_000162.5(GCK):c.148dup (p.His50fs)
|
rs886041690
|
|
|
NM_000162.5(GCK):c.149A>T (p.His50Leu)
|
|
|
|
NM_000162.5(GCK):c.150dup (p.Glu51Ter)
|
|
|
|
NM_000162.5(GCK):c.151G>T (p.Glu51Ter)
|
|
|
|
NM_000162.5(GCK):c.158C>T (p.Ala53Val)
|
rs2128823130
|
|
|
NM_000162.5(GCK):c.171G>A (p.Met57Ile)
|
rs1057520109
|
|
|
NM_000162.5(GCK):c.175C>T (p.Pro59Ser)
|
rs193922287
|
|
|
NM_000162.5(GCK):c.179C>T (p.Thr60Ile)
|
rs747783371
|
|
|
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)
|
rs780612692
|
|
|
NM_000162.5(GCK):c.183C>T (p.Tyr61=)
|
rs780612692
|
|
|
NM_000162.5(GCK):c.184G>A (p.Val62Met)
|
rs1064793998
|
|
|
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
|
|
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
|
NM_000162.5(GCK):c.208+15C>G
|
|
|
|
NM_000162.5(GCK):c.208+2T>C
|
rs2128823089
|
|
|
NM_000162.5(GCK):c.208+9T>A
|
rs193922288
|
|
|
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)
|
rs2128823091
|
|
|
NM_000162.5(GCK):c.208G>C (p.Glu70Gln)
|
|
|
|
NM_000162.5(GCK):c.209-1G>A
|
|
|
|
NM_000162.5(GCK):c.214G>A (p.Gly72Arg)
|
rs193922289
|
|
|
NM_000162.5(GCK):c.214G>C (p.Gly72Arg)
|
rs193922289
|
|
|
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
|
|
|
|
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
|
|
|
|
NM_000162.5(GCK):c.253A>T (p.Arg85Trp)
|
rs193922290
|
|
|
NM_000162.5(GCK):c.255G>T (p.Arg85Ser)
|
rs1554335758
|
|
|
NM_000162.5(GCK):c.25G>T (p.Glu9Ter)
|
rs1131691483
|
|
|
NM_000162.5(GCK):c.264G>A (p.Leu88=)
|
|
|
|
NM_000162.5(GCK):c.269A>C (p.Lys90Thr)
|
rs2128822695
|
|
|
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
|
|
|
|
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
|
|
|
|
NM_000162.5(GCK):c.286G>T (p.Glu96Ter)
|
rs2096281776
|
|
|
NM_000162.5(GCK):c.291del (p.Gln98fs)
|
rs1562719029
|
|
|
NM_000162.5(GCK):c.295T>C (p.Trp99Arg)
|
rs1554335751
|
|
|
NM_000162.5(GCK):c.295del (p.Trp99fs)
|
rs1554335752
|
|
|
NM_000162.5(GCK):c.296G>A (p.Trp99Ter)
|
|
|
|
NM_000162.5(GCK):c.300C>T (p.Ser100=)
|
|
|
|
NM_000162.5(GCK):c.304A>T (p.Lys102Ter)
|
rs193922291
|
|
|
NM_000162.5(GCK):c.307A>T (p.Thr103Ser)
|
rs2096281726
|
|
|
NM_000162.5(GCK):c.316C>T (p.Gln106Ter)
|
rs2096281702
|
|
|
NM_000162.5(GCK):c.317A>C (p.Gln106Pro)
|
|
|
|
NM_000162.5(GCK):c.317_333del (p.Gln106fs)
|
rs797045595
|
|
|
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)
|
rs193922292
|
|
|
NM_000162.5(GCK):c.330C>G (p.Ile110Met)
|
rs1554335741
|
|
|
NM_000162.5(GCK):c.333C>G (p.Pro111=)
|
rs61736250
|
|
|
NM_000162.5(GCK):c.351_358del (p.Thr118fs)
|
|
|
|
NM_000162.5(GCK):c.355G>A (p.Ala119Thr)
|
rs1064796698
|
|
|
NM_000162.5(GCK):c.356C>G (p.Ala119Gly)
|
|
|
|
NM_000162.5(GCK):c.359dup (p.Met121fs)
|
rs2128822614
|
|
|
NM_000162.5(GCK):c.360G>A (p.Glu120=)
|
|
|
|
NM_000162.5(GCK):c.363+10G>C
|
rs758495950
|
|
|
NM_000162.5(GCK):c.364-1G>A
|
rs1057521094
|
|
|
NM_000162.5(GCK):c.364-41dup
|
rs193922293
|
|
|
NM_000162.5(GCK):c.364-49dup
|
rs193922294
|
|
|
NM_000162.5(GCK):c.364C>A (p.Leu122Ile)
|
rs1554335616
|
|
|
NM_000162.5(GCK):c.371A>T (p.Asp124Val)
|
rs1554335612
|
|
|
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)
|
|
|
|
NM_000162.5(GCK):c.377T>C (p.Ile126Thr)
|
rs1562718220
|
|
|
NM_000162.5(GCK):c.386G>A (p.Cys129Tyr)
|
rs2128822108
|
|
|
NM_000162.5(GCK):c.387C>A (p.Cys129Ter)
|
rs1583601365
|
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
|
NM_000162.5(GCK):c.393del (p.Asp132fs)
|
rs193922295
|
|
|
NM_000162.5(GCK):c.397T>C (p.Phe133Leu)
|
rs2128822093
|
|
|
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
|
|
|
|
NM_000162.5(GCK):c.427_428delinsCT (p.Lys143Leu)
|
rs1554335598
|
|
|
NM_000162.5(GCK):c.431T>C (p.Leu144Pro)
|
rs1554335596
|
|
|
NM_000162.5(GCK):c.431del (p.Leu144fs)
|
rs1064796410
|
|
|
NM_000162.5(GCK):c.440del (p.Gly147fs)
|
rs1554335585
|
|
|
NM_000162.5(GCK):c.442T>A (p.Phe148Ile)
|
rs1554335582
|
|
|
NM_000162.5(GCK):c.445dup (p.Thr149fs)
|
|
|
|
NM_000162.5(GCK):c.447C>T (p.Thr149=)
|
|
|
|
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
|
rs193922297
|
|
|
NM_000162.5(GCK):c.45+11C>G
|
rs193922298
|
|
|
NM_000162.5(GCK):c.45+1G>T
|
rs781260712
|
|
|
NM_000162.5(GCK):c.45+3A>G
|
rs1554340088
|
|
|
NM_000162.5(GCK):c.450C>T (p.Phe150=)
|
rs193922299
|
|
|
NM_000162.5(GCK):c.454T>C (p.Phe152Leu)
|
rs2096280050
|
|
|
NM_000162.5(GCK):c.455T>C (p.Phe152Ser)
|
|
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
|
NM_000162.5(GCK):c.458C>A (p.Pro153His)
|
|
|
|
NM_000162.5(GCK):c.46-2A>G
|
rs1554335966
|
|
|
NM_000162.5(GCK):c.46-4438C>T
|
rs41282712
|
|
|
NM_000162.5(GCK):c.46-4621C>T
|
rs1562722328
|
|
|
NM_000162.5(GCK):c.46-5907_46-5906dup
|
rs60650959
|
|
|
NM_000162.5(GCK):c.461T>C (p.Val154Ala)
|
|
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
|
NM_000162.5(GCK):c.464G>C (p.Arg155Thr)
|
rs1554335573
|
|
|
NM_000162.5(GCK):c.466C>T (p.His156Tyr)
|
rs1562718043
|
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
|
NM_000162.5(GCK):c.469G>T (p.Glu157Ter)
|
|
|
|
NM_000162.5(GCK):c.475A>G (p.Ile159Val)
|
rs1319364468
|
|
|
NM_000162.5(GCK):c.477C>G (p.Ile159Met)
|
rs1554335567
|
|
|
NM_000162.5(GCK):c.478G>A (p.Asp160Asn)
|
rs1554335566
|
|
|
NM_000162.5(GCK):c.478G>C (p.Asp160His)
|
|
|
|
NM_000162.5(GCK):c.482A>G (p.Lys161Arg)
|
|
|
|
NM_000162.5(GCK):c.483+10G>A
|
rs1554335560
|
|
|
NM_000162.5(GCK):c.483+1G>A
|
|
|
|
NM_000162.5(GCK):c.483+2T>C
|
rs1554335564
|
|
|
NM_000162.5(GCK):c.483+2_483+16del
|
rs1583601110
|
|
|
NM_000162.5(GCK):c.483G>A (p.Lys161=)
|
rs193922302
|
|
|
NM_000162.5(GCK):c.484-11_484-6del
|
|
|
|
NM_000162.5(GCK):c.484-2A>G
|
|
|
|
NM_000162.5(GCK):c.484G>A (p.Gly162Ser)
|
|
|
|
NM_000162.5(GCK):c.485G>A (p.Gly162Asp)
|
rs1170194230
|
|
|
NM_000162.5(GCK):c.491T>C (p.Leu164Pro)
|
rs2096278847
|
|
|
NM_000162.5(GCK):c.499T>G (p.Trp167Gly)
|
rs1481197092
|
|
|
NM_000162.5(GCK):c.501G>C (p.Trp167Cys)
|
rs1470521850
|
|
|
NM_000162.5(GCK):c.509G>T (p.Gly170Val)
|
rs193922303
|
|
|
NM_000162.5(GCK):c.523G>A (p.Gly175Arg)
|
rs587780344
|
|
|
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
|
|
|
|
NM_000162.5(GCK):c.524G>C (p.Gly175Ala)
|
rs2128821624
|
|
|
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
|
|
|
|
NM_000162.5(GCK):c.525A>G (p.Gly175=)
|
|
|
|
NM_000162.5(GCK):c.527C>G (p.Ala176Gly)
|
rs193922304
|
|
|
NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu)
|
rs2096278772
|
|
|
NM_000162.5(GCK):c.52C>T (p.Gln18Ter)
|
rs1300199281
|
|
|
NM_000162.5(GCK):c.532G>A (p.Gly178Arg)
|
rs193922305
|
|
|
NM_000162.5(GCK):c.533G>A (p.Gly178Glu)
|
rs886039380
|
|
|
NM_000162.5(GCK):c.534G>A (p.Gly178=)
|
|
|
|
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
|
|
|
|
NM_000162.5(GCK):c.540T>C (p.Asn180=)
|
rs1554335444
|
|
|
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
|
rs1554335444
|
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
|
NM_000162.5(GCK):c.551T>C (p.Leu184Pro)
|
rs2128821610
|
|
|
NM_000162.5(GCK):c.554T>C (p.Leu185Pro)
|
|
|
|
NM_000162.5(GCK):c.554T>G (p.Leu185Arg)
|
rs1583599749
|
|
|
NM_000162.5(GCK):c.556C>A (p.Arg186=)
|
|
|
|
NM_000162.5(GCK):c.556C>T (p.Arg186Ter)
|
rs104894006
|
|
|
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
|
rs751279776
|
|
|
NM_000162.5(GCK):c.563C>T (p.Ala188Val)
|
rs193922307
|
|
|
NM_000162.5(GCK):c.566T>C (p.Ile189Thr)
|
rs1554335441
|
|
|
NM_000162.5(GCK):c.568A>T (p.Lys190Ter)
|
|
|
|
NM_000162.5(GCK):c.572G>A (p.Arg191Gln)
|
rs886042610
|
|
|
NM_000162.5(GCK):c.577G>C (p.Gly193Arg)
|
rs376050856
|
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
|
NM_000162.5(GCK):c.579+1G>A
|
|
|
|
NM_000162.5(GCK):c.579+4del
|
|
|
|
NM_000162.5(GCK):c.579+8G>A
|
rs1562717232
|
|
|
NM_000162.5(GCK):c.579G>T (p.Gly193=)
|
rs2128821570
|
|
|
NM_000162.5(GCK):c.57C>A (p.Ile19=)
|
rs193922308
|
|
|
NM_000162.5(GCK):c.57C>G (p.Ile19Met)
|
rs193922308
|
|
|
NM_000162.5(GCK):c.580-13T>C
|
rs1386067636
|
|
|
NM_000162.5(GCK):c.580-13_580-1del
|
|
|
|
NM_000162.5(GCK):c.580-1G>C
|
|
|
|
NM_000162.5(GCK):c.580-3C>A
|
|
|
|
NM_000162.5(GCK):c.580-3del
|
|
|
|
NM_000162.5(GCK):c.580-9T>G
|
|
|
|
NM_000162.5(GCK):c.587A>G (p.Glu196Gly)
|
rs193922309
|
|
|
NM_000162.5(GCK):c.590T>C (p.Met197Thr)
|
rs1554335418
|
|
|
NM_000162.5(GCK):c.595G>A (p.Val199Met)
|
rs1554335417
|
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
|
NM_000162.5(GCK):c.614A>G (p.Asp205Gly)
|
rs2128821509
|
|
|
NM_000162.5(GCK):c.614A>T (p.Asp205Val)
|
rs2128821509
|
|
|
NM_000162.5(GCK):c.615C>G (p.Asp205Glu)
|
rs193922312
|
|
|
NM_000162.5(GCK):c.616A>C (p.Thr206Pro)
|
rs587780346
|
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
|
NM_000162.5(GCK):c.626C>T (p.Thr209Met)
|
rs1583599303
|
|
|
NM_000162.5(GCK):c.627GAT[3] (p.Met210_Ile211insMet)
|
|
|
|
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
|
rs80356654
|
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
|
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
|
rs193922313
|
|
|
NM_000162.5(GCK):c.632T>A (p.Ile211Asn)
|
rs1554335400
|
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
|
NM_000162.5(GCK):c.638_640del (p.Cys213del)
|
rs1583599241
|
|
|
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)
|
rs104894015
|
|
|
NM_000162.5(GCK):c.641dup (p.Tyr214Ter)
|
rs2128821490
|
|
|
NM_000162.5(GCK):c.645C>A (p.Tyr215Ter)
|
rs144723656
|
|
|
NM_000162.5(GCK):c.645C>G (p.Tyr215Ter)
|
rs144723656
|
|
|
NM_000162.5(GCK):c.656del (p.Gln219fs)
|
|
|
|
NM_000162.5(GCK):c.658T>C (p.Cys220Arg)
|
rs193922315
|
|
|
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)
|
rs193922316
|
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
|
NM_000162.5(GCK):c.661G>A (p.Glu221Lys)
|
rs193922317
|
|
|
NM_000162.5(GCK):c.666del (p.Gly223fs)
|
rs2096278285
|
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
|
NM_000162.5(GCK):c.671T>C (p.Met224Thr)
|
rs2128821476
|
|
|
NM_000162.5(GCK):c.675C>G (p.Ile225Met)
|
rs772754004
|
|
|
NM_000162.5(GCK):c.675C>T (p.Ile225=)
|
rs772754004
|
|
|
NM_000162.5(GCK):c.677T>C (p.Val226Ala)
|
rs193922319
|
|
|
NM_000162.5(GCK):c.677T>G (p.Val226Gly)
|
|
|
|
NM_000162.5(GCK):c.678_679+2del
|
rs1554335391
|
|
|
NM_000162.5(GCK):c.679+1G>A
|
rs2128821468
|
|
|
NM_000162.5(GCK):c.679+1G>C
|
|
|
|
NM_000162.5(GCK):c.679+1del
|
rs193922320
|
|
|
NM_000162.5(GCK):c.679+5G>A
|
|
|
|
NM_000162.5(GCK):c.679G>A (p.Gly227Ser)
|
|
|
|
NM_000162.5(GCK):c.679G>C (p.Gly227Arg)
|
|
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
|
NM_000162.5(GCK):c.680-15C>A
|
rs369345791
|
|
|
NM_000162.5(GCK):c.680-15C>T
|
rs369345791
|
|
|
NM_000162.5(GCK):c.680-1G>A
|
rs1057524905
|
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
|
NM_000162.5(GCK):c.680-6C>G
|
|
|
|
NM_000162.5(GCK):c.680-94dup
|
rs193922321
|
|
|
NM_000162.5(GCK):c.680G>A (p.Gly227Asp)
|
rs2128820681
|
|
|
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
|
rs1332966015
|
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
|
NM_000162.5(GCK):c.686del (p.Gly229fs)
|
rs1554335164
|
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
|
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
|
|
|
|
NM_000162.5(GCK):c.694G>A (p.Ala232Thr)
|
rs193922322
|
|
|
NM_000162.5(GCK):c.695C>A (p.Ala232Asp)
|
|
|
|
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys)
|
rs1562715620
|
|
|
NM_000162.5(GCK):c.704T>C (p.Met235Thr)
|
rs193922323
|
|
|
NM_000162.5(GCK):c.706G>A (p.Glu236Lys)
|
rs587780347
|
|
|
NM_000162.5(GCK):c.709G>A (p.Glu237Lys)
|
rs1176858193
|
|
|
NM_000162.5(GCK):c.718A>G (p.Asn240Asp)
|
rs1562715574
|
|
|
NM_000162.5(GCK):c.723G>A (p.Val241=)
|
rs193922324
|
|
|
NM_000162.5(GCK):c.726G>A (p.Glu242=)
|
rs373582283
|
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
|
NM_000162.5(GCK):c.731T>A (p.Val244Glu)
|
|
|
|
NM_000162.5(GCK):c.731T>G (p.Val244Gly)
|
|
|
|
NM_000162.5(GCK):c.734A>G (p.Glu245Gly)
|
rs1583596546
|
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
|
NM_000162.5(GCK):c.74T>G (p.Leu25Arg)
|
rs193922325
|
|
|
NM_000162.5(GCK):c.751A>G (p.Met251Val)
|
rs2128820620
|
|
|
NM_000162.5(GCK):c.752T>C (p.Met251Thr)
|
rs193922326
|
|
|
NM_000162.5(GCK):c.756C>T (p.Cys252=)
|
|
|
|
NM_000162.5(GCK):c.758T>C (p.Val253Ala)
|
rs193921400
|
|
|
NM_000162.5(GCK):c.758T>G (p.Val253Gly)
|
rs193921400
|
|
|
NM_000162.5(GCK):c.760A>C (p.Asn254His)
|
rs193922327
|
|
|
NM_000162.5(GCK):c.762T>A (p.Asn254Lys)
|
rs1554335141
|
|
|
NM_000162.5(GCK):c.763_779dup (p.Phe260fs)
|
rs1554335128
|
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
|
NM_000162.5(GCK):c.766G>T (p.Glu256Ter)
|
|
|
|
NM_000162.5(GCK):c.768G>C (p.Glu256Asp)
|
rs193922328
|
|
|
NM_000162.5(GCK):c.769T>C (p.Trp257Arg)
|
rs1554335135
|
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
|
NM_000162.5(GCK):c.770G>A (p.Trp257Ter)
|
rs1562715426
|
|
|
NM_000162.5(GCK):c.771G>A (p.Trp257Ter)
|
rs2128820597
|
|
|
NM_000162.5(GCK):c.773G>A (p.Gly258Asp)
|
rs747662793
|
|
|
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)
|
rs1375656631
|
|
|
NM_000162.5(GCK):c.776C>T (p.Ala259Val)
|
rs1554335132
|
|
|
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)
|
rs193922330
|
|
|
NM_000162.5(GCK):c.781G>A (p.Gly261Arg)
|
rs104894008
|
|
|
NM_000162.5(GCK):c.785dup (p.Asp262fs)
|
|
|
|
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)
|
rs193929373
|
|
|
NM_000162.5(GCK):c.792C>A (p.Gly264=)
|
rs754094813
|
|
|
NM_000162.5(GCK):c.792C>T (p.Gly264=)
|
rs754094813
|
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
|
NM_000162.5(GCK):c.793G>T (p.Glu265Ter)
|
rs104894011
|
|
|
NM_000162.5(GCK):c.799G>C (p.Asp267His)
|
|
|
|
NM_000162.5(GCK):c.802G>A (p.Glu268Lys)
|
rs1554335111
|
|
|
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)
|
rs2096275478
|
|
|
NM_000162.5(GCK):c.809T>C (p.Leu270Pro)
|
rs1583596227
|
|
|
NM_000162.5(GCK):c.812T>C (p.Leu271Pro)
|
rs193922332
|
|
|
NM_000162.5(GCK):c.818A>T (p.Tyr273Phe)
|
rs1182603872
|
|
|
NM_000162.5(GCK):c.819T>A (p.Tyr273Ter)
|
rs1562715296
|
|
|
NM_000162.5(GCK):c.820G>C (p.Asp274His)
|
rs1554335109
|
|
|
NM_000162.5(GCK):c.824G>T (p.Arg275Leu)
|
rs767565869
|
|
|
NM_000162.5(GCK):c.82G>A (p.Glu28Lys)
|
rs2128823215
|
|
|
NM_000162.5(GCK):c.830T>G (p.Val277Gly)
|
rs1554335093
|
|
|
NM_000162.5(GCK):c.833A>T (p.Asp278Val)
|
rs193922333
|
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.835G>T (p.Glu279Ter)
|
rs104894005
|
|
|
NM_000162.5(GCK):c.848del (p.Asn283fs)
|
rs1583596119
|
|
|
NM_000162.5(GCK):c.854del (p.Gly285fs)
|
rs1583596063
|
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
|
NM_000162.5(GCK):c.863+3A>G
|
rs193922334
|
|
|
NM_000162.5(GCK):c.863+5G>A
|
|
|
|
NM_000162.5(GCK):c.864-1G>C
|
|
|
|
NM_000162.5(GCK):c.866A>G (p.Tyr289Cys)
|
|
|
|
NM_000162.5(GCK):c.867T>A (p.Tyr289Ter)
|
rs1192394824
|
|
|
NM_000162.5(GCK):c.868G>A (p.Glu290Lys)
|
rs1487194256
|
|
|
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
|
|
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
|
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)
|
rs2128820046
|
|
|
NM_000162.5(GCK):c.878T>G (p.Ile293Arg)
|
|
|
|
NM_000162.5(GCK):c.881G>T (p.Gly294Val)
|
|
|
|
NM_000162.5(GCK):c.883G>A (p.Gly295Ser)
|
rs1554334905
|
|
|
NM_000162.5(GCK):c.884G>A (p.Gly295Asp)
|
rs2096273902
|
|
|
NM_000162.5(GCK):c.895G>C (p.Gly299Arg)
|
rs104894009
|
|
|
NM_000162.5(GCK):c.89T>C (p.Leu30Pro)
|
rs876661320
|
|
|
NM_000162.5(GCK):c.904G>T (p.Val302Leu)
|
rs1583594501
|
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
|
NM_000162.5(GCK):c.909G>T (p.Arg303=)
|
rs1583594459
|
|
|
NM_000162.5(GCK):c.911T>C (p.Leu304Pro)
|
rs1554334894
|
|
|
NM_000162.5(GCK):c.914T>G (p.Val305Gly)
|
rs2096273846
|
|
|
NM_000162.5(GCK):c.917T>A (p.Leu306Gln)
|
rs193922337
|
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
|
NM_000162.5(GCK):c.921C>G (p.Leu307=)
|
|
|
|
NM_000162.5(GCK):c.940del (p.Leu314fs)
|
|
|
|
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
|
rs1554334886
|
|
|
NM_000162.5(GCK):c.941T>G (p.Leu314Arg)
|
rs1554334886
|
|
|
NM_000162.5(GCK):c.943C>T (p.Leu315Phe)
|
rs1583594350
|
|
|
NM_000162.5(GCK):c.944T>A (p.Leu315His)
|
rs193922338
|
|
|
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)
|
rs193922339
|
|
|
NM_000162.5(GCK):c.950A>C (p.His317Pro)
|
|
|
|
NM_000162.5(GCK):c.962_963dup (p.Glu322fs)
|
|
|
|
NM_000162.5(GCK):c.971T>C (p.Leu324Pro)
|
rs193922341
|
|
|
NM_000162.5(GCK):c.982G>T (p.Gly328Ter)
|
|
|
|
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)
|
rs1554334872
|
|
|
NM_000162.5(GCK):c.98T>A (p.Val33Glu)
|
rs1554335954
|
|
|
NM_000162.5(GCK):c.98T>C (p.Val33Ala)
|
rs1554335954
|
|
|
NM_000162.5(GCK):c.98T>G (p.Val33Gly)
|
rs1554335954
|
|
|
NM_000162.5(GCK):c.995C>T (p.Thr332Met)
|
rs770231054
|
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
|
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
|
NM_000175.5(GPI):c.1063-13G>C
|
|
|
|
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
|
|
|
|
NM_000175.5(GPI):c.1124C>G (p.Thr375Arg)
|
rs267606853
|
|
|
NM_000175.5(GPI):c.1143G>C (p.Gly381=)
|
rs1214297048
|
|
|
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter)
|
rs2074944986
|
|
|
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
|
|
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
|
NM_000175.5(GPI):c.1356G>C (p.Ala452=)
|
rs34604585
|
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
|
|
|
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys)
|
rs1364382189
|
|
|
NM_000175.5(GPI):c.1415G>A (p.Arg472His)
|
|
|
|
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
|
|
|
|
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
|
|
|
|
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
|
rs139035514
|
|
|
NM_000175.5(GPI):c.1614C>G (p.His538Gln)
|
rs537943038
|
|
|
NM_000175.5(GPI):c.1615G>A (p.Asp539Asn)
|
rs137853585
|
|
|
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
|
|
|
|
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
|
|
|
|
NM_000175.5(GPI):c.190G>A (p.Val64Met)
|
|
|
|
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
|
|
|
|
NM_000175.5(GPI):c.244del (p.Glu82fs)
|
rs769026153
|
|
|
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
|
|
|
|
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
|
|
|
|
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
|
|
|
|
NM_000175.5(GPI):c.487-14A>G
|
|
|
|
NM_000175.5(GPI):c.603C>G (p.Pro201=)
|
rs1062480
|
|
|
NM_000175.5(GPI):c.637T>A (p.Phe213Ile)
|
rs2145365520
|
|
|
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
|
|
|
|
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
|
|
|
|
NM_000175.5(GPI):c.751-5del
|
rs375313737
|
|
|
NM_000175.5(GPI):c.751-5dup
|
rs375313737
|
|
|
NM_000175.5(GPI):c.804+1_804+2del
|
|
|
|
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
|
|
|
|
NM_000175.5(GPI):c.812del (p.Gly271fs)
|
rs2145419704
|
|
|
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
|
|
|
|
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
|
|
|
|
NM_000175.5(GPI):c.885G>T (p.Gln295His)
|
|
|
|
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
|
|
|
|
NM_000175.5(GPI):c.91G>C (p.Asp31His)
|
|
|
|
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
|
|
|
|
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
|
|
|
|
NM_000181.4(GUSB):c.*12A>G
|
rs769514976
|
|
|
NM_000181.4(GUSB):c.*148A>G
|
rs568655640
|
|
|
NM_000181.4(GUSB):c.*154G>A
|
rs1790427973
|
|
|
NM_000181.4(GUSB):c.*208T>C
|
rs190201470
|
|
|
NM_000181.4(GUSB):c.*208T>G
|
rs190201470
|
|
|
NM_000181.4(GUSB):c.1002C>T (p.Ser334=)
|
rs1166045525
|
|
|
NM_000181.4(GUSB):c.1026T>G (p.Pro342=)
|
|
|
|
NM_000181.4(GUSB):c.1038C>T (p.His346=)
|
|
|
|
NM_000181.4(GUSB):c.1044C>T (p.Val348=)
|
|
|
|
NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser)
|
|
|
|
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
|
|
|
|
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter)
|
rs1238361161
|
|
|
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn)
|
rs121918182
|
|
|
NM_000181.4(GUSB):c.1056G>A (p.Glu352=)
|
|
|
|
NM_000181.4(GUSB):c.1065+11G>A
|
|
|
|
NM_000181.4(GUSB):c.1065+18G>A
|
|
|
|
NM_000181.4(GUSB):c.1066-11C>T
|
|
|
|
NM_000181.4(GUSB):c.1066-20T>C
|
|
|
|
NM_000181.4(GUSB):c.1066-4del
|
|
|
|
NM_000181.4(GUSB):c.1066-6T>C
|
|
|
|
NM_000181.4(GUSB):c.1066-6_1066-5del
|
|
|
|
NM_000181.4(GUSB):c.1066-7C>A
|
|
|
|
NM_000181.4(GUSB):c.1066-9A>G
|
|
|
|
NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)
|
|
|
|
NM_000181.4(GUSB):c.1077G>A (p.Lys359=)
|
|
|
|
NM_000181.4(GUSB):c.107G>T (p.Arg36Leu)
|
rs1264172545
|
|
|
NM_000181.4(GUSB):c.1083C>T (p.Phe361=)
|
|
|
|
NM_000181.4(GUSB):c.1084_1110del (p.Asp362_Phe370del)
|
rs1791443181
|
|
|
NM_000181.4(GUSB):c.1092G>A (p.Pro364=)
|
|
|
|
NM_000181.4(GUSB):c.1096C>T (p.Leu366=)
|
|
|
|
NM_000181.4(GUSB):c.1098G>A (p.Leu366=)
|
|
|
|
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
|
|
|
|
NM_000181.4(GUSB):c.1116G>A (p.Leu372=)
|
|
|
|
NM_000181.4(GUSB):c.1119T>G (p.Leu373=)
|
|
|
|
NM_000181.4(GUSB):c.111G>A (p.Glu37=)
|
|
|
|
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
|
|
|
|
NM_000181.4(GUSB):c.1134C>T (p.Ala378=)
|
|
|
|
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr)
|
rs1207640167
|
|
|
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
|
rs1289930946
|
|
|
NM_000181.4(GUSB):c.1143C>T (p.Phe381=)
|
|
|
|
NM_000181.4(GUSB):c.1149C>T (p.Thr383=)
|
|
|
|
NM_000181.4(GUSB):c.114C>T (p.Cys38=)
|
|
|
|
NM_000181.4(GUSB):c.1161C>G (p.Pro387=)
|
rs1791437300
|
|
|
NM_000181.4(GUSB):c.1167A>C (p.Ala389=)
|
|
|
|
NM_000181.4(GUSB):c.1167A>G (p.Ala389=)
|
|
|
|
NM_000181.4(GUSB):c.117G>A (p.Lys39=)
|
|
|
|
NM_000181.4(GUSB):c.1182G>A (p.Gln394=)
|
|
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
|
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
|
rs1355624664
|
|
|
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
|
|
|
|
NM_000181.4(GUSB):c.120G>A (p.Glu40=)
|
|
|
|
NM_000181.4(GUSB):c.1227C>T (p.Gly409=)
|
|
|
|
NM_000181.4(GUSB):c.1230G>C (p.Val410=)
|
|
|
|
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)
|
|
|
|
NM_000181.4(GUSB):c.1239G>A (p.Ala413=)
|
|
|
|
NM_000181.4(GUSB):c.1244+15T>C
|
|
|
|
NM_000181.4(GUSB):c.1244+16G>A
|
|
|
|
NM_000181.4(GUSB):c.1244+19C>T
|
|
|
|
NM_000181.4(GUSB):c.1244+20C>G
|
|
|
|
NM_000181.4(GUSB):c.1245-11C>T
|
|
|
|
NM_000181.4(GUSB):c.1245-14C>T
|
|
|
|
NM_000181.4(GUSB):c.1245-19C>A
|
|
|
|
NM_000181.4(GUSB):c.1245-19C>T
|
rs995961802
|
|
|
NM_000181.4(GUSB):c.1245-4G>T
|
rs548368848
|
|
|
NM_000181.4(GUSB):c.1245-5C>T
|
|
|
|
NM_000181.4(GUSB):c.1245-8G>A
|
|
|
|
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
|
|
|
|
NM_000181.4(GUSB):c.1275C>T (p.His425=)
|
|
|
|
NM_000181.4(GUSB):c.1285G>A (p.Val429Met)
|
|
|
|
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
|
|
|
|
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu)
|
rs768428238
|
|
|
NM_000181.4(GUSB):c.129C>A (p.Gly43=)
|
|
|
|
NM_000181.4(GUSB):c.12G>A (p.Gly4=)
|
|
|
|
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
|
|
|
|
NM_000181.4(GUSB):c.1320C>T (p.His440=)
|
|
|
|
NM_000181.4(GUSB):c.1323C>T (p.Pro441=)
|
|
|
|
NM_000181.4(GUSB):c.1326G>C (p.Ala442=)
|
|
|
|
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
|
|
|
|
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter)
|
rs121918180
|
|
|
NM_000181.4(GUSB):c.1341T>C (p.Ser447=)
|
|
|
|
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser)
|
rs2115949680
|
|
|
NM_000181.4(GUSB):c.1350C>T (p.Asn450=)
|
|
|
|
NM_000181.4(GUSB):c.1356T>C (p.Pro452=)
|
|
|
|
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val)
|
rs912985278
|
|
|
NM_000181.4(GUSB):c.1374T>C (p.Ser458=)
|
|
|
|
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
|
|
|
|
NM_000181.4(GUSB):c.1383C>T (p.Tyr461=)
|
|
|
|
NM_000181.4(GUSB):c.138C>T (p.Ser46=)
|
|
|
|
NM_000181.4(GUSB):c.1391+11C>T
|
|
|
|
NM_000181.4(GUSB):c.1391+12C>T
|
|
|
|
NM_000181.4(GUSB):c.1391+13T>G
|
|
|
|
NM_000181.4(GUSB):c.1391+14C>T
|
|
|
|
NM_000181.4(GUSB):c.1391+17T>C
|
|
|
|
NM_000181.4(GUSB):c.1391+18G>C
|
|
|
|
NM_000181.4(GUSB):c.1391+5G>A
|
|
|
|
NM_000181.4(GUSB):c.1391+618_1391+619del
|
rs786200863
|
|
|
NM_000181.4(GUSB):c.1392-12T>C
|
|
|
|
NM_000181.4(GUSB):c.1392-14C>T
|
|
|
|
NM_000181.4(GUSB):c.1401C>A (p.Ile467=)
|
|
|
|
NM_000181.4(GUSB):c.1401C>T (p.Ile467=)
|
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
|
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)
|
|
|
|
NM_000181.4(GUSB):c.1417T>C (p.Leu473=)
|
|
|
|
NM_000181.4(GUSB):c.141C>T (p.Phe47=)
|
|
|
|
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
|
|
|
|
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
|
|
|
|
NM_000181.4(GUSB):c.1425C>T (p.Pro475=)
|
rs1791109537
|
|
|
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
|
|
|
|
NM_000181.4(GUSB):c.1431G>A (p.Arg477=)
|
|
|
|
NM_000181.4(GUSB):c.1431G>T (p.Arg477=)
|
|
|
|
NM_000181.4(GUSB):c.1455T>C (p.Ser485=)
|
|
|
|
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
|
|
|
|
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
|
|
|
|
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)
|
|
|
|
NM_000181.4(GUSB):c.1469A>G (p.Asp490Gly)
|
rs2115900875
|
|
|
NM_000181.4(GUSB):c.1476+10G>A
|
|
|
|
NM_000181.4(GUSB):c.1476+13G>T
|
|
|
|
NM_000181.4(GUSB):c.1476+13del
|
rs2115900599
|
|
|
NM_000181.4(GUSB):c.1476+13dup
|
|
|
|
NM_000181.4(GUSB):c.1476+15C>T
|
|
|
|
NM_000181.4(GUSB):c.1476+16C>T
|
|
|
|
NM_000181.4(GUSB):c.1476+18C>A
|
|
|
|
NM_000181.4(GUSB):c.1476+18C>T
|
|
|
|
NM_000181.4(GUSB):c.1476+20C>A
|
|
|
|
NM_000181.4(GUSB):c.1476+20C>T
|
|
|
|
NM_000181.4(GUSB):c.1476+3G>A
|
rs886042522
|
|
|
NM_000181.4(GUSB):c.1476_1476+13del
|
|
|
|
NM_000181.4(GUSB):c.1477-16G>T
|
|
|
|
NM_000181.4(GUSB):c.1477-18C>T
|
|
|
|
NM_000181.4(GUSB):c.1477-1G>C
|
|
|
|
NM_000181.4(GUSB):c.1477-2A>G
|
|
|
|
NM_000181.4(GUSB):c.1477-5C>T
|
|
|
|
NM_000181.4(GUSB):c.1477-9T>C
|
|
|
|
NM_000181.4(GUSB):c.1482G>A (p.Pro494=)
|
rs548880426
|
|
|
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)
|
rs121918178
|
|
|
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
|
|
|
|
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)
|
rs1159683641
|
|
|
NM_000181.4(GUSB):c.1506C>T (p.Asn502=)
|
|
|
|
NM_000181.4(GUSB):c.1509C>T (p.Ser503=)
|
|
|
|
NM_000181.4(GUSB):c.1515C>T (p.Tyr505=)
|
|
|
|
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)
|
|
|
|
NM_000181.4(GUSB):c.1527C>T (p.His509=)
|
rs201928248
|
|
|
NM_000181.4(GUSB):c.1530C>T (p.Asp510=)
|
|
|
|
NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)
|
|
|
|
NM_000181.4(GUSB):c.1536G>A (p.Gly512=)
|
rs1282778009
|
|
|
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)
|
|
|
|
NM_000181.4(GUSB):c.1581C>T (p.Asn527=)
|
|
|
|
NM_000181.4(GUSB):c.15G>A (p.Ser5=)
|
|
|
|
NM_000181.4(GUSB):c.1602G>A (p.Lys534=)
|
|
|
|
NM_000181.4(GUSB):c.1605C>T (p.Pro535=)
|
|
|
|
NM_000181.4(GUSB):c.1614G>C (p.Gln538His)
|
|
|
|
NM_000181.4(GUSB):c.1635G>A (p.Thr545=)
|
|
|
|
NM_000181.4(GUSB):c.1644G>A (p.Gly548=)
|
|
|
|
NM_000181.4(GUSB):c.1653+15G>A
|
|
|
|
NM_000181.4(GUSB):c.1653+17T>C
|
|
|
|
NM_000181.4(GUSB):c.1654-10T>C
|
|
|
|
NM_000181.4(GUSB):c.1654-10T>G
|
|
|
|
NM_000181.4(GUSB):c.1654-11T>C
|
|
|
|
NM_000181.4(GUSB):c.1654-12C>G
|
|
|
|
NM_000181.4(GUSB):c.1654-12C>T
|
|
|
|
NM_000181.4(GUSB):c.1654-14G>A
|
|
|
|
NM_000181.4(GUSB):c.1654-14G>T
|
|
|
|
NM_000181.4(GUSB):c.1654-1G>A
|
|
|
|
NM_000181.4(GUSB):c.1654-3T>C
|
|
|
|
NM_000181.4(GUSB):c.1654-7A>G
|
|
|
|
NM_000181.4(GUSB):c.1654-9G>A
|
|
|
|
NM_000181.4(GUSB):c.1663C>T (p.Leu555=)
|
|
|
|
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
|
rs772676579
|
|
|
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
|
|
|
|
NM_000181.4(GUSB):c.1704G>A (p.Gln568=)
|
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
|
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu)
|
rs121918183
|
|
|
NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)
|
|
|
|
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
|
|
|
|
NM_000181.4(GUSB):c.1770C>T (p.Ala590=)
|
|
|
|
NM_000181.4(GUSB):c.177C>T (p.Phe59=)
|
|
|
|
NM_000181.4(GUSB):c.1782T>C (p.Thr594=)
|
|
|
|
NM_000181.4(GUSB):c.1782T>G (p.Thr594=)
|
|
|
|
NM_000181.4(GUSB):c.1783del (p.Glu595fs)
|
|
|
|
NM_000181.4(GUSB):c.1789+10A>C
|
|
|
|
NM_000181.4(GUSB):c.1790-11T>C
|
|
|
|
NM_000181.4(GUSB):c.1790-11T>G
|
|
|
|
NM_000181.4(GUSB):c.1790-18T>C
|
|
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
|
NM_000181.4(GUSB):c.1790-20T>A
|
|
|
|
NM_000181.4(GUSB):c.1790-21_1790-20del
|
|
|
|
NM_000181.4(GUSB):c.1790-4G>T
|
rs879010457
|
|
|
NM_000181.4(GUSB):c.1790-5del
|
rs750022485
|
|
|
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
|
|
|
|
NM_000181.4(GUSB):c.1794G>A (p.Pro598=)
|
|
|
|
NM_000181.4(GUSB):c.1797G>A (p.Thr599=)
|
|
|
|
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
|
|
|
|
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
|
|
|
|
NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)
|
|
|
|
NM_000181.4(GUSB):c.1804C>T (p.Leu602=)
|
|
|
|
NM_000181.4(GUSB):c.1809G>A (p.Gly603=)
|
|
|
|
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
|
|
|
|
NM_000181.4(GUSB):c.180G>A (p.Glu60=)
|
|
|
|
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
|
|
|
|
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
|
|
|
|
NM_000181.4(GUSB):c.1832G>A (p.Arg611Gln)
|
rs1583879945
|
|
|
NM_000181.4(GUSB):c.1834del (p.Gln612fs)
|
rs1085307069
|
|
|
NM_000181.4(GUSB):c.1854A>G (p.Ala618=)
|
|
|
|
NM_000181.4(GUSB):c.1857G>C (p.Ala619=)
|
|
|
|
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
|
|
|
|
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
|
rs571736757
|
|
|
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
|
|
|
|
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
|
|
|
|
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
|
|
|
|
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)
|
rs935464108
|
|
|
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
|
|
|
|
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
|
rs1236992554
|
|
|
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)
|
|
|
|
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
|
|
|
|
NM_000181.4(GUSB):c.1896A>G (p.Glu632=)
|
|
|
|
NM_000181.4(GUSB):c.18G>A (p.Ala6=)
|
|
|
|
NM_000181.4(GUSB):c.18G>C (p.Ala6=)
|
|
|
|
NM_000181.4(GUSB):c.1905T>C (p.Tyr635=)
|
|
|
|
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
|
|
|
|
NM_000181.4(GUSB):c.1911C>T (p.His637=)
|
|
|
|
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
|
rs1790444883
|
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
|
NM_000181.4(GUSB):c.1926A>G (p.Ser642=)
|
|
|
|
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
|
|
|
|
NM_000181.4(GUSB):c.192C>T (p.Tyr64=)
|
|
|
|
NM_000181.4(GUSB):c.1945C>T (p.Leu649=)
|
|
|
|
NM_000181.4(GUSB):c.1946_1947inv (p.Leu649Pro)
|
|
|
|
NM_000181.4(GUSB):c.201G>T (p.Pro67=)
|
|
|
|
NM_000181.4(GUSB):c.210+13G>A
|
|
|
|
NM_000181.4(GUSB):c.210+16A>C
|
|
|
|
NM_000181.4(GUSB):c.210+20C>T
|
|
|
|
NM_000181.4(GUSB):c.210+5G>A
|
|
|
|
NM_000181.4(GUSB):c.210+5G>C
|
|
|
|
NM_000181.4(GUSB):c.211-15C>T
|
|
|
|
NM_000181.4(GUSB):c.211-16G>A
|
|
|
|
NM_000181.4(GUSB):c.211-17G>A
|
|
|
|
NM_000181.4(GUSB):c.211-17G>C
|
rs749802416
|
|
|
NM_000181.4(GUSB):c.211-18C>G
|
|
|
|
NM_000181.4(GUSB):c.211-20C>G
|
|
|
|
NM_000181.4(GUSB):c.211-20C>T
|
|
|
|
NM_000181.4(GUSB):c.211-7T>C
|
rs1299733589
|
|
|
NM_000181.4(GUSB):c.222C>G (p.Thr74=)
|
|
|
|
NM_000181.4(GUSB):c.229A>G (p.Met77Val)
|
|
|
|
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
|
rs376505707
|
|
|
NM_000181.4(GUSB):c.230T>G (p.Met77Arg)
|
rs751845855
|
|
|
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
|
|
|
|
NM_000181.4(GUSB):c.240C>T (p.Pro80=)
|
|
|
|
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
|
|
|
|
NM_000181.4(GUSB):c.24C>T (p.Ala8=)
|
|
|
|
NM_000181.4(GUSB):c.24del (p.Trp9fs)
|
|
|
|
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
|
|
|
|
NM_000181.4(GUSB):c.252T>C (p.Asn84=)
|
|
|
|
NM_000181.4(GUSB):c.288C>T (p.Val96=)
|
|
|
|
NM_000181.4(GUSB):c.297G>A (p.Val99=)
|
|
|
|
NM_000181.4(GUSB):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000181.4(GUSB):c.303C>T (p.Tyr101=)
|
|
|
|
NM_000181.4(GUSB):c.306A>G (p.Glu102=)
|
rs2116042007
|
|
|
NM_000181.4(GUSB):c.309G>A (p.Arg103=)
|
|
|
|
NM_000181.4(GUSB):c.30G>A (p.Ala10=)
|
|
|
|
NM_000181.4(GUSB):c.320del (p.Leu107fs)
|
|
|
|
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
|
|
|
|
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter)
|
rs1053785648
|
|
|
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg)
|
rs1791915416
|
|
|
NM_000181.4(GUSB):c.342C>T (p.Asp114=)
|
|
|
|
NM_000181.4(GUSB):c.366G>A (p.Arg122=)
|
|
|
|
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser)
|
rs1583946993
|
|
|
NM_000181.4(GUSB):c.36C>T (p.Leu12=)
|
|
|
|
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg)
|
rs2116040590
|
|
|
NM_000181.4(GUSB):c.380A>G (p.His127Arg)
|
rs765699404
|
|
|
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
|
|
|
|
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)
|
|
|
|
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)
|
rs1237078772
|
|
|
NM_000181.4(GUSB):c.390C>T (p.Ala130=)
|
|
|
|
NM_000181.4(GUSB):c.393C>T (p.Ile131=)
|
|
|
|
NM_000181.4(GUSB):c.396+13A>G
|
|
|
|
NM_000181.4(GUSB):c.396+14G>A
|
|
|
|
NM_000181.4(GUSB):c.396+15G>C
|
|
|
|
NM_000181.4(GUSB):c.396+17G>A
|
|
|
|
NM_000181.4(GUSB):c.396+1G>A
|
|
|
|
NM_000181.4(GUSB):c.396+8C>T
|
|
|
|
NM_000181.4(GUSB):c.396+9G>A
|
|
|
|
NM_000181.4(GUSB):c.397-10G>A
|
|
|
|
NM_000181.4(GUSB):c.397-10G>C
|
|
|
|
NM_000181.4(GUSB):c.397-15C>T
|
|
|
|
NM_000181.4(GUSB):c.397-19G>T
|
|
|
|
NM_000181.4(GUSB):c.397-20dup
|
rs765594686
|
|
|
NM_000181.4(GUSB):c.397-9del
|
|
|
|
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
|
|
|
|
NM_000181.4(GUSB):c.408G>A (p.Gly136=)
|
|
|
|
NM_000181.4(GUSB):c.411C>T (p.Val137=)
|
|
|
|
NM_000181.4(GUSB):c.417G>A (p.Thr139=)
|
|
|
|
NM_000181.4(GUSB):c.420A>C (p.Leu140=)
|
|
|
|
NM_000181.4(GUSB):c.429G>A (p.Glu143=)
|
|
|
|
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
|
|
|
|
NM_000181.4(GUSB):c.42G>T (p.Pro14=)
|
|
|
|
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)
|
|
|
|
NM_000181.4(GUSB):c.434del (p.Gly145fs)
|
|
|
|
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser)
|
rs121918177
|
|
|
NM_000181.4(GUSB):c.444C>T (p.Pro148=)
|
|
|
|
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
|
rs764486500
|
|
|
NM_000181.4(GUSB):c.453C>G (p.Ala151=)
|
rs144397476
|
|
|
NM_000181.4(GUSB):c.453C>T (p.Ala151=)
|
|
|
|
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
|
rs1420034681
|
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
|
NM_000181.4(GUSB):c.462C>T (p.Ser154=)
|
|
|
|
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
|
|
|
|
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
|
|
|
|
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
|
rs1410086265
|
|
|
NM_000181.4(GUSB):c.484C>T (p.Leu162=)
|
|
|
|
NM_000181.4(GUSB):c.486G>A (p.Leu162=)
|
|
|
|
NM_000181.4(GUSB):c.48G>A (p.Leu16=)
|
|
|
|
NM_000181.4(GUSB):c.492C>T (p.Ser164=)
|
|
|
|
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
|
|
|
|
NM_000181.4(GUSB):c.501A>C (p.Arg167=)
|
|
|
|
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
|
|
|
|
NM_000181.4(GUSB):c.525A>G (p.Thr175=)
|
|
|
|
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
|
|
|
|
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile)
|
rs587779400
|
|
|
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
|
rs1392513223
|
|
|
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
|
rs11559281
|
|
|
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
|
rs1427132394
|
|
|
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
|
rs768029322
|
|
|
NM_000181.4(GUSB):c.555C>G (p.Thr185=)
|
|
|
|
NM_000181.4(GUSB):c.555C>T (p.Thr185=)
|
|
|
|
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
|
|
|
|
NM_000181.4(GUSB):c.560_581+13del
|
|
|
|
NM_000181.4(GUSB):c.570T>C (p.Thr190=)
|
|
|
|
NM_000181.4(GUSB):c.57C>T (p.Cys19=)
|
rs573989102
|
|
|
NM_000181.4(GUSB):c.581+10A>G
|
rs1233559582
|
|
|
NM_000181.4(GUSB):c.581+12C>G
|
|
|
|
NM_000181.4(GUSB):c.581+17C>T
|
|
|
|
NM_000181.4(GUSB):c.581+1G>A
|
|
|
|
NM_000181.4(GUSB):c.581+20C>T
|
|
|
|
NM_000181.4(GUSB):c.581+8C>G
|
|
|
|
NM_000181.4(GUSB):c.581+9C>T
|
|
|
|
NM_000181.4(GUSB):c.582-12C>G
|
|
|
|
NM_000181.4(GUSB):c.582-12C>T
|
|
|
|
NM_000181.4(GUSB):c.582-15G>A
|
|
|
|
NM_000181.4(GUSB):c.582-19C>G
|
|
|
|
NM_000181.4(GUSB):c.582-20C>G
|
|
|
|
NM_000181.4(GUSB):c.582-3T>G
|
|
|
|
NM_000181.4(GUSB):c.582-7A>C
|
|
|
|
NM_000181.4(GUSB):c.582-9C>T
|
|
|
|
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
|
|
|
|
NM_000181.4(GUSB):c.60G>A (p.Ala20=)
|
|
|
|
NM_000181.4(GUSB):c.612A>G (p.Thr204=)
|
|
|
|
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys)
|
rs2116029247
|
|
|
NM_000181.4(GUSB):c.615T>C (p.Tyr205=)
|
|
|
|
NM_000181.4(GUSB):c.621C>T (p.Asp207=)
|
|
|
|
NM_000181.4(GUSB):c.639A>G (p.Gly213=)
|
|
|
|
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
|
|
|
|
NM_000181.4(GUSB):c.647G>A (p.Arg216Gln)
|
rs1791836120
|
|
|
NM_000181.4(GUSB):c.657T>G (p.Leu219=)
|
rs764393614
|
|
|
NM_000181.4(GUSB):c.658C>T (p.Leu220=)
|
|
|
|
NM_000181.4(GUSB):c.666G>T (p.Thr222=)
|
|
|
|
NM_000181.4(GUSB):c.66G>A (p.Gly22=)
|
|
|
|
NM_000181.4(GUSB):c.66G>T (p.Gly22=)
|
|
|
|
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
|
rs375590538
|
|
|
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala)
|
rs1332406445
|
|
|
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
|
|
|
|
NM_000181.4(GUSB):c.696C>T (p.Thr232=)
|
|
|
|
NM_000181.4(GUSB):c.6C>G (p.Ala2=)
|
|
|
|
NM_000181.4(GUSB):c.6C>T (p.Ala2=)
|
|
|
|
NM_000181.4(GUSB):c.708C>T (p.Ser236=)
|
|
|
|
NM_000181.4(GUSB):c.724+17G>C
|
rs2116026712
|
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
|
NM_000181.4(GUSB):c.724+23TC[3]
|
rs3830444
|
|
|
NM_000181.4(GUSB):c.725-11G>A
|
|
|
|
NM_000181.4(GUSB):c.725-12T>C
|
|
|
|
NM_000181.4(GUSB):c.725-14C>A
|
|
|
|
NM_000181.4(GUSB):c.725-18C>A
|
|
|
|
NM_000181.4(GUSB):c.725-18C>G
|
rs754699640
|
|
|
NM_000181.4(GUSB):c.725-18C>T
|
|
|
|
NM_000181.4(GUSB):c.725-18CT[2]
|
rs1173385478
|
|
|
NM_000181.4(GUSB):c.725-4G>A
|
|
|
|
NM_000181.4(GUSB):c.725-7C>G
|
|
|
|
NM_000181.4(GUSB):c.725-8dup
|
rs768444459
|
|
|
NM_000181.4(GUSB):c.727C>T (p.Leu243=)
|
|
|
|
NM_000181.4(GUSB):c.729G>A (p.Leu243=)
|
|
|
|
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
|
|
|
|
NM_000181.4(GUSB):c.738C>T (p.Tyr246=)
|
|
|
|
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
|
|
|
|
NM_000181.4(GUSB):c.744C>T (p.Ile248=)
|
|
|
|
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
|
|
|
|
NM_000181.4(GUSB):c.75C>T (p.Gly25=)
|
|
|
|
NM_000181.4(GUSB):c.762C>T (p.Asn254=)
|
|
|
|
NM_000181.4(GUSB):c.765G>T (p.Leu255=)
|
rs2115977392
|
|
|
NM_000181.4(GUSB):c.768C>T (p.Phe256=)
|
|
|
|
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
|
|
|
|
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
|
|
|
|
NM_000181.4(GUSB):c.78G>T (p.Gly26=)
|
|
|
|
NM_000181.4(GUSB):c.792T>C (p.Asp264=)
|
|
|
|
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)
|
rs755211573
|
|
|
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
|
|
|
|
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
|
|
|
|
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
|
|
|
|
NM_000181.4(GUSB):c.813G>T (p.Ala271=)
|
|
|
|
NM_000181.4(GUSB):c.828C>T (p.Thr276=)
|
|
|
|
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
|
|
|
|
NM_000181.4(GUSB):c.873C>T (p.Tyr291=)
|
|
|
|
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)
|
|
|
|
NM_000181.4(GUSB):c.87C>T (p.Tyr29=)
|
|
|
|
NM_000181.4(GUSB):c.882C>T (p.His294=)
|
rs766837276
|
|
|
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
|
|
|
|
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)
|
rs1271320539
|
|
|
NM_000181.4(GUSB):c.906A>G (p.Ser302=)
|
|
|
|
NM_000181.4(GUSB):c.907T>C (p.Leu303=)
|
|
|
|
NM_000181.4(GUSB):c.90C>G (p.Pro30=)
|
|
|
|
NM_000181.4(GUSB):c.90C>T (p.Pro30=)
|
|
|
|
NM_000181.4(GUSB):c.912+15G>C
|
|
|
|
NM_000181.4(GUSB):c.912+18C>G
|
|
|
|
NM_000181.4(GUSB):c.912+19A>G
|
|
|
|
NM_000181.4(GUSB):c.913-16G>A
|
rs2115962921
|
|
|
NM_000181.4(GUSB):c.913-17T>C
|
|
|
|
NM_000181.4(GUSB):c.913-18G>C
|
|
|
|
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
|
|
|
|
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
|
|
|
|
NM_000181.4(GUSB):c.927A>C (p.Ala309=)
|
|
|
|
NM_000181.4(GUSB):c.932dup (p.Ser312fs)
|
|
|
|
NM_000181.4(GUSB):c.937C>T (p.Leu313=)
|
|
|
|
NM_000181.4(GUSB):c.93G>A (p.Gln31=)
|
|
|
|
NM_000181.4(GUSB):c.942G>A (p.Gly314=)
|
|
|
|
NM_000181.4(GUSB):c.945T>C (p.Pro315=)
|
|
|
|
NM_000181.4(GUSB):c.948G>A (p.Val316=)
|
|
|
|
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
|
|
|
|
NM_000181.4(GUSB):c.954C>T (p.Asp318=)
|
|
|
|
NM_000181.4(GUSB):c.960C>T (p.Tyr320=)
|
|
|
|
NM_000181.4(GUSB):c.963A>T (p.Thr321=)
|
|
|
|
NM_000181.4(GUSB):c.966C>A (p.Leu322=)
|
|
|
|
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
|
|
|
|
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
|
|
|
|
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu)
|
rs1583924426
|
|
|
NM_000181.4(GUSB):c.99C>T (p.Ser33=)
|
|
|
|
NM_000181.4(GUSB):c.9G>T (p.Arg3=)
|
|
|
|
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)
|
rs1564557037
|
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
|
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)
|
rs2132884703
|
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
|
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser)
|
rs137853249
|
|
|
NM_000188.3(HK1):c.1871dup (p.Ala625fs)
|
rs754451671
|
|
|
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
|
|
|
|
NM_000188.3(HK1):c.497_591+1del
|
|
|
|
NM_000199.5(SGSH):c.*1008C>T
|
rs886053553
|
|
|
NM_000199.5(SGSH):c.*1078A>G
|
rs886053552
|
|
|
NM_000199.5(SGSH):c.*452G>A
|
rs886053556
|
|
|
NM_000199.5(SGSH):c.*69C>T
|
rs576879796
|
|
|
NM_000199.5(SGSH):c.*712G>T
|
rs1360057013
|
|
|
NM_000199.5(SGSH):c.*891A>G
|
rs903251344
|
|
|
NM_000199.5(SGSH):c.*95A>T
|
rs2041585066
|
|
|
NM_000199.5(SGSH):c.*978C>T
|
rs886053554
|
|
|
NM_000199.5(SGSH):c.-12G>A
|
rs1598772757
|
|
|
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla)
|
rs1555624208
|
|
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
|
NM_000199.5(SGSH):c.1004T>C (p.Ile335Thr)
|
|
|
|
NM_000199.5(SGSH):c.1005C>T (p.Ile335=)
|
|
|
|
NM_000199.5(SGSH):c.1008T>C (p.Phe336=)
|
rs2144698448
|
|
|
NM_000199.5(SGSH):c.1011C>T (p.Gly337=)
|
|
|
|
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
|
|
|
|
NM_000199.5(SGSH):c.1014G>A (p.Ser338=)
|
rs1329179099
|
|
|
NM_000199.5(SGSH):c.1014G>T (p.Ser338=)
|
|
|
|
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
|
|
|
|
NM_000199.5(SGSH):c.1020C>T (p.Thr340=)
|
|
|
|
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
|
|
|
|
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
|
|
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
|
NM_000199.5(SGSH):c.102C>G (p.Gly34=)
|
|
|
|
NM_000199.5(SGSH):c.1036C>A (p.Arg346=)
|
|
|
|
NM_000199.5(SGSH):c.1038G>A (p.Arg346=)
|
|
|
|
NM_000199.5(SGSH):c.1041C>A (p.Ser347=)
|
|
|
|
NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)
|
|
|
|
NM_000199.5(SGSH):c.1043T>C (p.Leu348Pro)
|
rs886321925
|
|
|
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del)
|
rs1555620306
|
|
|
NM_000199.5(SGSH):c.1053G>C (p.Ala351=)
|
rs757723989
|
|
|
NM_000199.5(SGSH):c.1059G>A (p.Glu353=)
|
|
|
|
NM_000199.5(SGSH):c.1062C>A (p.Ala354=)
|
|
|
|
NM_000199.5(SGSH):c.1062C>G (p.Ala354=)
|
rs150750383
|
|
|
NM_000199.5(SGSH):c.1062del (p.Glu355fs)
|
|
|
|
NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)
|
|
|
|
NM_000199.5(SGSH):c.1066C>A (p.Pro356Thr)
|
|
|
|
NM_000199.5(SGSH):c.1068C>G (p.Pro356=)
|
rs2144696905
|
|
|
NM_000199.5(SGSH):c.1068C>T (p.Pro356=)
|
|
|
|
NM_000199.5(SGSH):c.1069dup (p.Leu357fs)
|
|
|
|
NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)
|
|
|
|
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
|
|
|
|
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
|
|
|
|
NM_000199.5(SGSH):c.1080C>A (p.Thr360=)
|
|
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
|
NM_000199.5(SGSH):c.1083C>G (p.Val361=)
|
rs1163683351
|
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
|
NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)
|
|
|
|
NM_000199.5(SGSH):c.1089C>T (p.Gly363=)
|
|
|
|
NM_000199.5(SGSH):c.108G>A (p.Glu36=)
|
|
|
|
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly)
|
rs2144696405
|
|
|
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)
|
rs1567915763
|
|
|
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)
|
rs1428699412
|
|
|
NM_000199.5(SGSH):c.1095G>A (p.Gln365=)
|
rs1567915786
|
|
|
NM_000199.5(SGSH):c.1097del (p.Ser366fs)
|
rs1598738720
|
|
|
NM_000199.5(SGSH):c.1098C>T (p.Ser366=)
|
rs1344726489
|
|
|
NM_000199.5(SGSH):c.1110C>A (p.Val370=)
|
|
|
|
NM_000199.5(SGSH):c.1110C>T (p.Val370=)
|
|
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
|
NM_000199.5(SGSH):c.1122C>T (p.Tyr374=)
|
|
|
|
NM_000199.5(SGSH):c.1125C>T (p.Pro375=)
|
|
|
|
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr)
|
rs775729169
|
|
|
NM_000199.5(SGSH):c.1129C>A (p.Arg377Ser)
|
|
|
|
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)
|
rs746037899
|
|
|
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu)
|
rs746037899
|
|
|
NM_000199.5(SGSH):c.1131C>T (p.Arg377=)
|
|
|
|
NM_000199.5(SGSH):c.1131del (p.Ser378fs)
|
|
|
|
NM_000199.5(SGSH):c.1140G>A (p.Gln380=)
|
rs2144695233
|
|
|
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
|
|
|
|
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)
|
rs398123244
|
|
|
NM_000199.5(SGSH):c.1147del (p.His383fs)
|
rs1598738369
|
|
|
NM_000199.5(SGSH):c.1149C>T (p.His383=)
|
rs1312597739
|
|
|
NM_000199.5(SGSH):c.1152C>T (p.Phe384=)
|
|
|
|
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
|
|
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
|
NM_000199.5(SGSH):c.1159G>C (p.Val387Leu)
|
|
|
|
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
|
rs62620232
|
|
|
NM_000199.5(SGSH):c.1162C>T (p.His388Tyr)
|
|
|
|
NM_000199.5(SGSH):c.116C>T (p.Ala39Val)
|
|
|
|
NM_000199.5(SGSH):c.1172A>G (p.Asn391Ser)
|
rs2041614381
|
|
|
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
|
rs2041613993
|
|
|
NM_000199.5(SGSH):c.117G>T (p.Ala39=)
|
rs201132655
|
|
|
NM_000199.5(SGSH):c.1183C>T (p.Pro395Ser)
|
|
|
|
NM_000199.5(SGSH):c.1185C>G (p.Pro395=)
|
|
|
|
NM_000199.5(SGSH):c.1186T>C (p.Phe396Leu)
|
|
|
|
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)
|
rs1598758001
|
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
|
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser)
|
rs1555623007
|
|
|
NM_000199.5(SGSH):c.119ACA[2] (p.Asn42del)
|
|
|
|
NM_000199.5(SGSH):c.11C>T (p.Pro4Leu)
|
|
|
|
NM_000199.5(SGSH):c.1208A>G (p.Tyr403Cys)
|
|
|
|
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)
|
|
|
|
NM_000199.5(SGSH):c.120C>T (p.Tyr40=)
|
|
|
|
NM_000199.5(SGSH):c.1215A>C (p.Ser405=)
|
rs1352657640
|
|
|
NM_000199.5(SGSH):c.1218C>T (p.Pro406=)
|
|
|
|
NM_000199.5(SGSH):c.1218del (p.Thr407fs)
|
|
|
|
NM_000199.5(SGSH):c.1221C>T (p.Thr407=)
|
rs1598738043
|
|
|
NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)
|
|
|
|
NM_000199.5(SGSH):c.1233C>T (p.Leu411=)
|
|
|
|
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
|
rs1230391147
|
|
|
NM_000199.5(SGSH):c.1240C>G (p.Arg414Gly)
|
|
|
|
NM_000199.5(SGSH):c.1241G>T (p.Arg414Leu)
|
|
|
|
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)
|
rs1484648912
|
|
|
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)
|
rs1412408576
|
|
|
NM_000199.5(SGSH):c.1251T>C (p.Ala417=)
|
rs2144692797
|
|
|
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
|
|
|
|
NM_000199.5(SGSH):c.1260del (p.Thr421fs)
|
|
|
|
NM_000199.5(SGSH):c.1263G>C (p.Thr421=)
|
rs140931352
|
|
|
NM_000199.5(SGSH):c.1265dup (p.Trp423fs)
|
|
|
|
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)
|
|
|
|
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser)
|
rs886053559
|
|
|
NM_000199.5(SGSH):c.126C>T (p.Asn42=)
|
|
|
|
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)
|
rs752914124
|
|
|
NM_000199.5(SGSH):c.1276del (p.Asp426fs)
|
|
|
|
NM_000199.5(SGSH):c.1278C>T (p.Asp426=)
|
|
|
|
NM_000199.5(SGSH):c.1280_1285del (p.Leu427_Arg428del)
|
rs2144692301
|
|
|
NM_000199.5(SGSH):c.1282C>T (p.Arg428Cys)
|
|
|
|
NM_000199.5(SGSH):c.1284T>C (p.Arg428=)
|
|
|
|
NM_000199.5(SGSH):c.1286A>T (p.His429Leu)
|
|
|
|
NM_000199.5(SGSH):c.1286del (p.His429fs)
|
|
|
|
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)
|
rs1555620148
|
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
|
NM_000199.5(SGSH):c.1299G>A (p.Arg433=)
|
|
|
|
NM_000199.5(SGSH):c.12C>A (p.Pro4=)
|
rs921772690
|
|
|
NM_000199.5(SGSH):c.12C>G (p.Pro4=)
|
rs921772690
|
|
|
NM_000199.5(SGSH):c.12C>T (p.Pro4=)
|
rs921772690
|
|
|
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)
|
rs370528435
|
|
|
NM_000199.5(SGSH):c.1305C>T (p.Arg435=)
|
|
|
|
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter)
|
rs1555620141
|
|
|
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
|
rs900198526
|
|
|
NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)
|
|
|
|
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn)
|
rs886053558
|
|
|
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
|
|
|
|
NM_000199.5(SGSH):c.1320C>T (p.Asp440=)
|
rs751683275
|
|
|
NM_000199.5(SGSH):c.1323G>A (p.Arg441=)
|
|
|
|
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
|
|
|
|
NM_000199.5(SGSH):c.1332C>T (p.Asp444=)
|
|
|
|
NM_000199.5(SGSH):c.1336del (p.His446fs)
|
|
|
|
NM_000199.5(SGSH):c.1338C>G (p.His446Gln)
|
rs762208419
|
|
|
NM_000199.5(SGSH):c.1338C>T (p.His446=)
|
rs762208419
|
|
|
NM_000199.5(SGSH):c.1340A>G (p.Glu447Gly)
|
|
|
|
NM_000199.5(SGSH):c.1341G>A (p.Glu447=)
|
|
|
|
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile)
|
rs980620540
|
|
|
NM_000199.5(SGSH):c.1344C>T (p.Thr448=)
|
|
|
|
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)
|
|
|
|
NM_000199.5(SGSH):c.1345del (p.Gln449fs)
|
rs1466245913
|
|
|
NM_000199.5(SGSH):c.1356C>A (p.Ala452=)
|
rs2041601835
|
|
|
NM_000199.5(SGSH):c.135C>A (p.Ile45=)
|
|
|
|
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
|
|
|
|
NM_000199.5(SGSH):c.1374T>C (p.Ala458=)
|
|
|
|
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)
|
rs1567914459
|
|
|
NM_000199.5(SGSH):c.1380T>A (p.Leu460=)
|
rs1298944219
|
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
|
NM_000199.5(SGSH):c.1383G>A (p.Leu461=)
|
rs2144689720
|
|
|
NM_000199.5(SGSH):c.1386G>A (p.Glu462=)
|
rs2144689644
|
|
|
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
|
|
|
|
NM_000199.5(SGSH):c.1395G>A (p.Arg465=)
|
|
|
|
NM_000199.5(SGSH):c.1395G>C (p.Arg465=)
|
rs764491308
|
|
|
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
|
rs2041599125
|
|
|
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
|
|
|
|
NM_000199.5(SGSH):c.1410G>A (p.Lys470=)
|
rs977948935
|
|
|
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)
|
rs2144689256
|
|
|
NM_000199.5(SGSH):c.1416G>C (p.Gln472His)
|
rs1555620072
|
|
|
NM_000199.5(SGSH):c.1417del (p.Trp473fs)
|
|
|
|
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)
|
|
|
|
NM_000199.5(SGSH):c.141C>A (p.Thr47=)
|
|
|
|
NM_000199.5(SGSH):c.1422G>A (p.Glu474=)
|
|
|
|
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)
|
rs2144689101
|
|
|
NM_000199.5(SGSH):c.1425C>A (p.Thr475=)
|
|
|
|
NM_000199.5(SGSH):c.1425C>G (p.Thr475=)
|
|
|
|
NM_000199.5(SGSH):c.1426del (p.His476fs)
|
rs2041597805
|
|
|
NM_000199.5(SGSH):c.1431C>A (p.Asp477Glu)
|
|
|
|
NM_000199.5(SGSH):c.1431C>T (p.Asp477=)
|
|
|
|
NM_000199.5(SGSH):c.1434C>A (p.Pro478=)
|
|
|
|
NM_000199.5(SGSH):c.1434C>T (p.Pro478=)
|
|
|
|
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)
|
rs1474556145
|
|
|
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
|
|
|
|
NM_000199.5(SGSH):c.1440G>T (p.Val480=)
|
|
|
|
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
|
rs780969693
|
|
|
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)
|
rs1555620043
|
|
|
NM_000199.5(SGSH):c.1449C>T (p.Pro483=)
|
rs779836312
|
|
|
NM_000199.5(SGSH):c.144G>T (p.Pro48=)
|
rs145970971
|
|
|
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)
|
|
|
|
NM_000199.5(SGSH):c.1455del (p.Val486fs)
|
|
|
|
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)
|
rs764585957
|
|
|
NM_000199.5(SGSH):c.1458C>A (p.Val486=)
|
|
|
|
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)
|
rs1252944094
|
|
|
NM_000199.5(SGSH):c.1467G>A (p.Glu489=)
|
rs2144687765
|
|
|
NM_000199.5(SGSH):c.146A>G (p.His49Arg)
|
rs1598757846
|
|
|
NM_000199.5(SGSH):c.1470G>A (p.Lys490=)
|
|
|
|
NM_000199.5(SGSH):c.1473C>G (p.Leu491=)
|
rs1436483872
|
|
|
NM_000199.5(SGSH):c.1473C>T (p.Leu491=)
|
|
|
|
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
|
|
|
|
NM_000199.5(SGSH):c.1476T>C (p.Ser492=)
|
rs769228670
|
|
|
NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg)
|
rs562445330
|
|
|
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter)
|
rs1232231848
|
|
|
NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50fs)
|
|
|
|
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
|
rs1281022554
|
|
|
NM_000199.5(SGSH):c.1491C>T (p.Pro497=)
|
|
|
|
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
|
rs779856036
|
|
|
NM_000199.5(SGSH):c.1503G>A (p.Glu501=)
|
|
|
|
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn)
|
rs2144782205
|
|
|
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr)
|
rs551094331
|
|
|
NM_000199.5(SGSH):c.15G>A (p.Val5=)
|
rs1040195143
|
|
|
NM_000199.5(SGSH):c.15G>C (p.Val5=)
|
rs1040195143
|
|
|
NM_000199.5(SGSH):c.15G>T (p.Val5=)
|
rs1040195143
|
|
|
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
|
|
|
|
NM_000199.5(SGSH):c.168C>G (p.Arg56=)
|
|
|
|
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
|
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
|
NM_000199.5(SGSH):c.174C>T (p.Leu58=)
|
rs1278899264
|
|
|
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)
|
rs1555622928
|
|
|
NM_000199.5(SGSH):c.177C>G (p.Leu59=)
|
|
|
|
NM_000199.5(SGSH):c.178_234del (p.Phe60_Leu78del)
|
|
|
|
NM_000199.5(SGSH):c.180T>C (p.Phe60=)
|
|
|
|
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
|
|
|
|
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
|
|
|
|
NM_000199.5(SGSH):c.183C>G (p.Arg61=)
|
rs561475181
|
|
|
NM_000199.5(SGSH):c.183C>T (p.Arg61=)
|
|
|
|
NM_000199.5(SGSH):c.184A>G (p.Asn62Asp)
|
|
|
|
NM_000199.5(SGSH):c.185A>G (p.Asn62Ser)
|
rs1396883948
|
|
|
NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)
|
|
|
|
NM_000199.5(SGSH):c.188C>T (p.Ala63Val)
|
rs985515930
|
|
|
NM_000199.5(SGSH):c.189C>T (p.Ala63=)
|
|
|
|
NM_000199.5(SGSH):c.18C>T (p.Pro6=)
|
|
|
|
NM_000199.5(SGSH):c.192C>T (p.Phe64=)
|
|
|
|
NM_000199.5(SGSH):c.195C>G (p.Thr65=)
|
|
|
|
NM_000199.5(SGSH):c.195C>T (p.Thr65=)
|
rs2144781531
|
|
|
NM_000199.5(SGSH):c.197C>T (p.Ser66Leu)
|
|
|
|
NM_000199.5(SGSH):c.198G>A (p.Ser66=)
|
|
|
|
NM_000199.5(SGSH):c.198G>C (p.Ser66=)
|
|
|
|
NM_000199.5(SGSH):c.198G>T (p.Ser66=)
|
rs771397375
|
|
|
NM_000199.5(SGSH):c.1A>C (p.Met1Leu)
|
rs1250300189
|
|
|
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
|
|
|
|
NM_000199.5(SGSH):c.210C>T (p.Cys70=)
|
rs2144781434
|
|
|
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro)
|
rs398123245
|
|
|
NM_000199.5(SGSH):c.216del (p.Ser73fs)
|
rs1555622888
|
|
|
NM_000199.5(SGSH):c.21C>G (p.Ala7=)
|
|
|
|
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)
|
|
|
|
NM_000199.5(SGSH):c.221G>A (p.Arg74His)
|
rs778336949
|
|
|
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)
|
|
|
|
NM_000199.5(SGSH):c.222C>A (p.Arg74=)
|
|
|
|
NM_000199.5(SGSH):c.222C>T (p.Arg74=)
|
rs768056322
|
|
|
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
|
|
|
|
NM_000199.5(SGSH):c.225C>T (p.Ala75=)
|
|
|
|
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
|
|
|
|
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)
|
rs779703983
|
|
|
NM_000199.5(SGSH):c.237T>C (p.Thr79=)
|
|
|
|
NM_000199.5(SGSH):c.239G>T (p.Gly80Val)
|
|
|
|
NM_000199.5(SGSH):c.23G>A (p.Cys8Tyr)
|
rs2144833092
|
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
|
NM_000199.5(SGSH):c.244C>T (p.Pro82Ser)
|
rs1385318543
|
|
|
NM_000199.5(SGSH):c.246C>G (p.Pro82=)
|
|
|
|
NM_000199.5(SGSH):c.249+14G>A
|
|
|
|
NM_000199.5(SGSH):c.249+14G>T
|
|
|
|
NM_000199.5(SGSH):c.249+15G>A
|
|
|
|
NM_000199.5(SGSH):c.249+15G>T
|
rs941020879
|
|
|
NM_000199.5(SGSH):c.249+17G>A
|
|
|
|
NM_000199.5(SGSH):c.249+18G>A
|
|
|
|
NM_000199.5(SGSH):c.249+19G>T
|
rs372274963
|
|
|
NM_000199.5(SGSH):c.249+24G>A
|
|
|
|
NM_000199.5(SGSH):c.249+28G>A
|
|
|
|
NM_000199.5(SGSH):c.249+8G>A
|
|
|
|
NM_000199.5(SGSH):c.24C>T (p.Cys8=)
|
rs2144833062
|
|
|
NM_000199.5(SGSH):c.250-13C>T
|
|
|
|
NM_000199.5(SGSH):c.250-15C>G
|
rs369082713
|
|
|
NM_000199.5(SGSH):c.250-289_463del
|
rs2144748721
|
|
|
NM_000199.5(SGSH):c.250-2A>G
|
|
|
|
NM_000199.5(SGSH):c.250-7C>T
|
|
|
|
NM_000199.5(SGSH):c.250-8G>T
|
rs1043560351
|
|
|
NM_000199.5(SGSH):c.251A>G (p.His84Arg)
|
rs2144755254
|
|
|
NM_000199.5(SGSH):c.254A>G (p.Gln85Arg)
|
|
|
|
NM_000199.5(SGSH):c.261G>A (p.Gly87=)
|
|
|
|
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
|
rs2041840084
|
|
|
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)
|
rs1479456289
|
|
|
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
|
rs774010006
|
|
|
NM_000199.5(SGSH):c.270G>A (p.Gly90=)
|
|
|
|
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro)
|
rs2144755037
|
|
|
NM_000199.5(SGSH):c.273G>A (p.Leu91=)
|
rs2144755014
|
|
|
NM_000199.5(SGSH):c.276C>T (p.His92=)
|
|
|
|
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)
|
|
|
|
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
|
rs2041839563
|
|
|
NM_000199.5(SGSH):c.282C>T (p.Asp94=)
|
rs748857638
|
|
|
NM_000199.5(SGSH):c.282_283dup (p.Val95fs)
|
rs2144754863
|
|
|
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
|
|
|
|
NM_000199.5(SGSH):c.288C>T (p.His96=)
|
|
|
|
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer)
|
rs1555624111
|
|
|
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
|
|
|
|
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe)
|
rs2144754691
|
|
|
NM_000199.5(SGSH):c.2T>G (p.Met1Arg)
|
rs1488660868
|
|
|
NM_000199.5(SGSH):c.300C>A (p.Ser100=)
|
|
|
|
NM_000199.5(SGSH):c.301_303del (p.Phe101del)
|
|
|
|
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu)
|
rs150482611
|
|
|
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
|
|
|
|
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
|
|
|
|
NM_000199.5(SGSH):c.30_31delinsTT (p.Ala10_Leu11=)
|
rs2144832917
|
|
|
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
|
|
|
|
NM_000199.5(SGSH):c.31C>T (p.Leu11=)
|
|
|
|
NM_000199.5(SGSH):c.321G>A (p.Leu107=)
|
|
|
|
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
|
|
|
|
NM_000199.5(SGSH):c.324dup (p.Leu109fs)
|
|
|
|
NM_000199.5(SGSH):c.333C>T (p.Leu111=)
|
|
|
|
NM_000199.5(SGSH):c.333_335delinsTGGT (p.Ser112fs)
|
|
|
|
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr)
|
rs773947080
|
|
|
NM_000199.5(SGSH):c.336C>T (p.Ser112=)
|
|
|
|
NM_000199.5(SGSH):c.341_342insGCTCACC (p.Gly115fs)
|
|
|
|
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala)
|
rs770321343
|
|
|
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
|
|
|
|
NM_000199.5(SGSH):c.345T>C (p.Gly115=)
|
|
|
|
NM_000199.5(SGSH):c.345T>G (p.Gly115=)
|
rs920720873
|
|
|
NM_000199.5(SGSH):c.348G>A (p.Val116=)
|
rs1242737193
|
|
|
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
|
|
|
|
NM_000199.5(SGSH):c.351C>T (p.Arg117=)
|
|
|
|
NM_000199.5(SGSH):c.355+16C>G
|
|
|
|
NM_000199.5(SGSH):c.355+16C>T
|
|
|
|
NM_000199.5(SGSH):c.355+17G>A
|
|
|
|
NM_000199.5(SGSH):c.355+20G>A
|
|
|
|
NM_000199.5(SGSH):c.356-12C>T
|
|
|
|
NM_000199.5(SGSH):c.356-14C>G
|
|
|
|
NM_000199.5(SGSH):c.356-14del
|
|
|
|
NM_000199.5(SGSH):c.356-16CT[2]
|
|
|
|
NM_000199.5(SGSH):c.356-18G>A
|
|
|
|
NM_000199.5(SGSH):c.356-18G>T
|
|
|
|
NM_000199.5(SGSH):c.356-1G>A
|
rs1555621984
|
|
|
NM_000199.5(SGSH):c.356-29_380del
|
|
|
|
NM_000199.5(SGSH):c.356-2A>G
|
rs1057517927
|
|
|
NM_000199.5(SGSH):c.356-3C>G
|
rs1361176382
|
|
|
NM_000199.5(SGSH):c.356-5C>T
|
rs1240953762
|
|
|
NM_000199.5(SGSH):c.357C>T (p.Gly119=)
|
|
|
|
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
|
|
|
|
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
|
|
|
|
NM_000199.5(SGSH):c.360C>T (p.Ile120=)
|
rs1314987469
|
|
|
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)
|
|
|
|
NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)
|
|
|
|
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del)
|
rs1555621974
|
|
|
NM_000199.5(SGSH):c.36_88+420del
|
|
|
|
NM_000199.5(SGSH):c.372G>A (p.Lys124=)
|
|
|
|
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
|
rs775553760
|
|
|
NM_000199.5(SGSH):c.376G>C (p.Val126Leu)
|
rs775553760
|
|
|
NM_000199.5(SGSH):c.378G>A (p.Val126=)
|
rs771878830
|
|
|
NM_000199.5(SGSH):c.378G>T (p.Val126=)
|
|
|
|
NM_000199.5(SGSH):c.380G>A (p.Gly127Glu)
|
|
|
|
NM_000199.5(SGSH):c.381G>A (p.Gly127=)
|
rs2144749895
|
|
|
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
|
|
|
|
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
|
|
|
|
NM_000199.5(SGSH):c.389_392del (p.Thr130fs)
|
|
|
|
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
|
|
|
|
NM_000199.5(SGSH):c.390C>G (p.Thr130=)
|
rs111761143
|
|
|
NM_000199.5(SGSH):c.391del (p.Val131fs)
|
|
|
|
NM_000199.5(SGSH):c.396C>A (p.Tyr132Ter)
|
|
|
|
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu)
|
rs781743238
|
|
|
NM_000199.5(SGSH):c.398del (p.Pro133fs)
|
rs2144749648
|
|
|
NM_000199.5(SGSH):c.399G>C (p.Pro133=)
|
|
|
|
NM_000199.5(SGSH):c.39A>G (p.Leu13=)
|
rs2144832681
|
|
|
NM_000199.5(SGSH):c.402dup (p.Asp135Ter)
|
rs1598749984
|
|
|
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
|
|
|
|
NM_000199.5(SGSH):c.408T>C (p.Phe136=)
|
|
|
|
NM_000199.5(SGSH):c.411G>C (p.Ala137=)
|
|
|
|
NM_000199.5(SGSH):c.414C>T (p.Tyr138=)
|
rs2041820947
|
|
|
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser)
|
rs760564328
|
|
|
NM_000199.5(SGSH):c.417G>C (p.Thr139=)
|
rs142729872
|
|
|
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter)
|
rs2144749282
|
|
|
NM_000199.5(SGSH):c.42C>T (p.Val14=)
|
rs1598772270
|
|
|
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
|
|
|
|
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
|
|
|
|
NM_000199.5(SGSH):c.435C>A (p.Val145=)
|
|
|
|
NM_000199.5(SGSH):c.435C>T (p.Val145=)
|
rs2144749023
|
|
|
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)
|
rs749358773
|
|
|
NM_000199.5(SGSH):c.459T>C (p.Thr153=)
|
|
|
|
NM_000199.5(SGSH):c.45G>T (p.Leu15=)
|
|
|
|
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
|
rs2041818115
|
|
|
NM_000199.5(SGSH):c.474C>G (p.Leu158=)
|
rs75828254
|
|
|
NM_000199.5(SGSH):c.474C>T (p.Leu158=)
|
rs75828254
|
|
|
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
|
|
|
|
NM_000199.5(SGSH):c.477C>G (p.Val159=)
|
|
|
|
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
|
|
|
|
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
|
|
|
|
NM_000199.5(SGSH):c.47_48del (p.Gly16fs)
|
|
|
|
NM_000199.5(SGSH):c.480G>T (p.Arg160=)
|
rs2144748453
|
|
|
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)
|
|
|
|
NM_000199.5(SGSH):c.483A>G (p.Lys161=)
|
rs2144748407
|
|
|
NM_000199.5(SGSH):c.48G>A (p.Gly16=)
|
rs925785551
|
|
|
NM_000199.5(SGSH):c.48G>C (p.Gly16=)
|
rs925785551
|
|
|
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)
|
rs1555624091
|
|
|
NM_000199.5(SGSH):c.48del (p.Leu17fs)
|
|
|
|
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)
|
rs1598749661
|
|
|
NM_000199.5(SGSH):c.495T>G (p.Thr165=)
|
|
|
|
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)
|
|
|
|
NM_000199.5(SGSH):c.506+10G>C
|
rs549782167
|
|
|
NM_000199.5(SGSH):c.506+11G>A
|
|
|
|
NM_000199.5(SGSH):c.506+12G>A
|
rs2144747927
|
|
|
NM_000199.5(SGSH):c.506+13G>A
|
rs201177560
|
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
|
NM_000199.5(SGSH):c.506+14C>A
|
|
|
|
NM_000199.5(SGSH):c.506+14C>G
|
|
|
|
NM_000199.5(SGSH):c.506+14C>T
|
|
|
|
NM_000199.5(SGSH):c.506+16C>T
|
rs2041815351
|
|
|
NM_000199.5(SGSH):c.506+18T>C
|
|
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
|
NM_000199.5(SGSH):c.506+3A>G
|
rs1460108613
|
|
|
NM_000199.5(SGSH):c.506+7G>T
|
rs2144748073
|
|
|
NM_000199.5(SGSH):c.506+9C>G
|
rs376523398
|
|
|
NM_000199.5(SGSH):c.507-12C>T
|
|
|
|
NM_000199.5(SGSH):c.507-14C>A
|
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NM_000199.5(SGSH):c.507-14C>T
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NM_000199.5(SGSH):c.507-15C>A
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NM_000199.5(SGSH):c.507-18G>A
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NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
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NM_000199.5(SGSH):c.519C>T (p.Leu173=)
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NM_000199.5(SGSH):c.525_526insA (p.Ala176fs)
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NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
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NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
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rs760996554
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NM_000199.5(SGSH):c.528C>T (p.Ala176=)
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NM_000199.5(SGSH):c.52T>G (p.Cys18Gly)
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rs1171316652
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NM_000199.5(SGSH):c.532C>G (p.His178Asp)
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rs1598748596
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NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
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NM_000199.5(SGSH):c.539C>T (p.Pro180Leu)
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NM_000199.5(SGSH):c.540C>A (p.Pro180=)
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rs749721134
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NM_000199.5(SGSH):c.540C>G (p.Pro180=)
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rs749721134
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NM_000199.5(SGSH):c.542A>G (p.His181Arg)
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rs776228545
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NM_000199.5(SGSH):c.544dup (p.Arg182fs)
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NM_000199.5(SGSH):c.54C>A (p.Cys18Ter)
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rs1555624080
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NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
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NM_000199.5(SGSH):c.564C>G (p.Pro188=)
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rs1378805024
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NM_000199.5(SGSH):c.573_574del (p.Thr192fs)
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NM_000199.5(SGSH):c.578T>C (p.Phe193Ser)
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rs1555621662
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NM_000199.5(SGSH):c.578_579delinsAA (p.Phe193Ter)
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NM_000199.5(SGSH):c.57G>A (p.Arg19=)
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NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
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NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
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NM_000199.5(SGSH):c.591T>C (p.Phe197=)
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NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)
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NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
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NM_000199.5(SGSH):c.617G>A (p.Arg206His)
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NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)
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rs104894643
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NM_000199.5(SGSH):c.61C>A (p.Arg21Ser)
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NM_000199.5(SGSH):c.622C>T (p.Pro208Ser)
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NM_000199.5(SGSH):c.628T>C (p.Trp210Arg)
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rs1268158872
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NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)
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rs373031930
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NM_000199.5(SGSH):c.632C>T (p.Thr211Ile)
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NM_000199.5(SGSH):c.633C>G (p.Thr211=)
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NM_000199.5(SGSH):c.633C>T (p.Thr211=)
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rs187147954
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NM_000199.5(SGSH):c.636C>G (p.Pro212=)
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NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
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rs200644359
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NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
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NM_000199.5(SGSH):c.637dup (p.Gln213fs)
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rs2144742329
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NM_000199.5(SGSH):c.642del (p.Tyr215fs)
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rs2144742222
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NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
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NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
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NM_000199.5(SGSH):c.648C>T (p.Asp216=)
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rs2144742092
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NM_000199.5(SGSH):c.654G>A (p.Leu218=)
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NM_000199.5(SGSH):c.658G>A (p.Val220Met)
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rs150508741
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NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
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rs150508741
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NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
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rs150508741
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NM_000199.5(SGSH):c.659T>G (p.Val220Gly)
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rs2144741986
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NM_000199.5(SGSH):c.660G>A (p.Val220=)
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NM_000199.5(SGSH):c.660G>C (p.Val220=)
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rs1168963563
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NM_000199.5(SGSH):c.663+10C>T
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rs2144741673
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NM_000199.5(SGSH):c.663+17T>G
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NM_000199.5(SGSH):c.663+17_663+18inv
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NM_000199.5(SGSH):c.663+1G>A
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NM_000199.5(SGSH):c.663+20G>A
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NM_000199.5(SGSH):c.663+3A>G
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rs2144741879
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NM_000199.5(SGSH):c.663+3dup
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NM_000199.5(SGSH):c.663+9G>T
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NM_000199.5(SGSH):c.664-11G>A
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rs761740352
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NM_000199.5(SGSH):c.664-15C>T
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NM_000199.5(SGSH):c.664-19T>C
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NM_000199.5(SGSH):c.664-1G>T
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rs1555621425
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NM_000199.5(SGSH):c.664-20C>G
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NM_000199.5(SGSH):c.664-39_664-36delinsGC
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rs386799751
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NM_000199.5(SGSH):c.664-39_664-38del
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rs34029730
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NM_000199.5(SGSH):c.664-4C>A
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rs1197427868
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NM_000199.5(SGSH):c.664-4C>G
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rs1197427868
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NM_000199.5(SGSH):c.664-4C>T
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NM_000199.5(SGSH):c.664-7G>A
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rs2144736499
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NM_000199.5(SGSH):c.666G>A (p.Val222=)
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rs2144736428
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NM_000199.5(SGSH):c.66C>G (p.Pro22=)
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rs2042100337
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NM_000199.5(SGSH):c.670del (p.Tyr224fs)
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NM_000199.5(SGSH):c.672C>T (p.Tyr224=)
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rs2144736338
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NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)
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rs1057521801
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NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
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rs34520362
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NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
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NM_000199.5(SGSH):c.681C>T (p.Pro227=)
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NM_000199.5(SGSH):c.687C>A (p.Thr229=)
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rs778017231
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NM_000199.5(SGSH):c.690G>A (p.Pro230=)
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rs781715169
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NM_000199.5(SGSH):c.691_698del (p.Ala231fs)
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NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
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rs2041772144
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NM_000199.5(SGSH):c.696C>G (p.Ala232=)
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NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
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rs374621913
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NM_000199.5(SGSH):c.699A>C (p.Arg233=)
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rs1361941081
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NM_000199.5(SGSH):c.69G>A (p.Arg23=)
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NM_000199.5(SGSH):c.702C>A (p.Ala234=)
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NM_000199.5(SGSH):c.703G>C (p.Asp235His)
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NM_000199.5(SGSH):c.703G>T (p.Asp235Tyr)
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NM_000199.5(SGSH):c.711C>A (p.Ala237=)
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NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
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NM_000199.5(SGSH):c.714T>C (p.Ala238=)
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NM_000199.5(SGSH):c.714del (p.Gln239fs)
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NM_000199.5(SGSH):c.716A>G (p.Gln239Arg)
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rs1352066127
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NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn)
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rs886053560
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NM_000199.5(SGSH):c.721A>G (p.Thr241Ala)
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NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
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rs774439487
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NM_000199.5(SGSH):c.723C>G (p.Thr241=)
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NM_000199.5(SGSH):c.726C>A (p.Thr242=)
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rs1347877363
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NM_000199.5(SGSH):c.726C>T (p.Thr242=)
|
rs1347877363
|
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NM_000199.5(SGSH):c.732C>A (p.Gly244=)
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rs1161386511
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NM_000199.5(SGSH):c.733C>A (p.Arg245Ser)
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NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
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rs1455698449
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NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
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NM_000199.5(SGSH):c.736A>G (p.Met246Val)
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NM_000199.5(SGSH):c.745+10C>T
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NM_000199.5(SGSH):c.745+11A>G
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NM_000199.5(SGSH):c.745+15C>A
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NM_000199.5(SGSH):c.745+18G>A
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NM_000199.5(SGSH):c.745+19G>A
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NM_000199.5(SGSH):c.745+1G>C
|
rs748525651
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NM_000199.5(SGSH):c.745+20C>T
|
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NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
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NM_000199.5(SGSH):c.746-11C>T
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NM_000199.5(SGSH):c.746-11_746-10del
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NM_000199.5(SGSH):c.746-12C>G
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NM_000199.5(SGSH):c.746-13C>A
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NM_000199.5(SGSH):c.746-13C>T
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NM_000199.5(SGSH):c.746-18C>G
|
rs2041699655
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NM_000199.5(SGSH):c.746-18C>T
|
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NM_000199.5(SGSH):c.746-20T>C
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NM_000199.5(SGSH):c.746-5C>T
|
rs1449319213
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NM_000199.5(SGSH):c.746-5_746-4inv
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NM_000199.5(SGSH):c.746-6C>G
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NM_000199.5(SGSH):c.746-9T>C
|
rs766281885
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NM_000199.5(SGSH):c.748G>T (p.Val250Phe)
|
rs1481986186
|
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NM_000199.5(SGSH):c.749T>A (p.Val250Asp)
|
rs765180942
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NM_000199.5(SGSH):c.750T>C (p.Val250=)
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NM_000199.5(SGSH):c.751G>A (p.Gly251Arg)
|
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NM_000199.5(SGSH):c.756G>C (p.Leu252=)
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NM_000199.5(SGSH):c.757del (p.Val253fs)
|
rs760281672
|
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NM_000199.5(SGSH):c.759G>A (p.Val253=)
|
rs2041697973
|
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NM_000199.5(SGSH):c.759G>C (p.Val253=)
|
rs2041697973
|
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NM_000199.5(SGSH):c.75A>G (p.Ala25=)
|
rs1262969566
|
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NM_000199.5(SGSH):c.763del (p.Gln255fs)
|
rs1555620827
|
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NM_000199.5(SGSH):c.771G>A (p.Leu257=)
|
rs1015384934
|
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NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
|
rs1314742501
|
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NM_000199.5(SGSH):c.772C>T (p.Arg258Cys)
|
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NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
|
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NM_000199.5(SGSH):c.783T>C (p.Gly261=)
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NM_000199.5(SGSH):c.784G>A (p.Val262Ile)
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|
NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGGGGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer)
|
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NM_000199.5(SGSH):c.793G>A (p.Asp265Asn)
|
rs1350874932
|
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NM_000199.5(SGSH):c.794_795insAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer)
|
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NM_000199.5(SGSH):c.799C>T (p.Leu267=)
|
rs1182273458
|
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NM_000199.5(SGSH):c.7_16del (p.Cys3fs)
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NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
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NM_000199.5(SGSH):c.816C>G (p.Ser272=)
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NM_000199.5(SGSH):c.821A>G (p.Asn274Ser)
|
rs2144716819
|
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NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
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NM_000199.5(SGSH):c.828C>G (p.Ile276Met)
|
rs2041694208
|
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NM_000199.5(SGSH):c.833_834del (p.Phe278fs)
|
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NM_000199.5(SGSH):c.841G>A (p.Gly281Ser)
|
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NM_000199.5(SGSH):c.841G>T (p.Gly281Cys)
|
rs541222703
|
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|
NM_000199.5(SGSH):c.849C>A (p.Thr283=)
|
rs2041693602
|
|
|
NM_000199.5(SGSH):c.849C>T (p.Thr283=)
|
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NM_000199.5(SGSH):c.84C>A (p.Leu28=)
|
rs1219782774
|
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NM_000199.5(SGSH):c.84C>T (p.Leu28=)
|
rs1219782774
|
|
|
NM_000199.5(SGSH):c.852C>T (p.Asn284=)
|
rs1295667096
|
|
|
NM_000199.5(SGSH):c.853C>T (p.Leu285=)
|
|
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|
NM_000199.5(SGSH):c.855G>C (p.Leu285=)
|
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|
NM_000199.5(SGSH):c.858C>T (p.Tyr286=)
|
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|
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
|
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|
NM_000199.5(SGSH):c.866_867del (p.Gly289fs)
|
|
|
|
NM_000199.5(SGSH):c.870T>G (p.Thr290=)
|
|
|
|
NM_000199.5(SGSH):c.873T>C (p.Ala291=)
|
|
|
|
NM_000199.5(SGSH):c.876A>G (p.Glu292=)
|
rs2144716396
|
|
|
NM_000199.5(SGSH):c.879C>G (p.Pro293=)
|
rs2144716366
|
|
|
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
|
|
|
|
NM_000199.5(SGSH):c.88+10G>A
|
rs2042098570
|
|
|
NM_000199.5(SGSH):c.88+13G>A
|
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|
|
NM_000199.5(SGSH):c.88+14C>T
|
rs2144831422
|
|
|
NM_000199.5(SGSH):c.88+16G>A
|
|
|
|
NM_000199.5(SGSH):c.88+17C>A
|
|
|
|
NM_000199.5(SGSH):c.88+18C>T
|
|
|
|
NM_000199.5(SGSH):c.88+5G>C
|
rs2144831735
|
|
|
NM_000199.5(SGSH):c.880T>C (p.Leu294=)
|
|
|
|
NM_000199.5(SGSH):c.885G>T (p.Leu295=)
|
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|
|
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
|
|
|
|
NM_000199.5(SGSH):c.88G>C (p.Ala30Pro)
|
rs758793075
|
|
|
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
|
|
|
|
NM_000199.5(SGSH):c.88_88+67del
|
rs2144830115
|
|
|
NM_000199.5(SGSH):c.89-12C>T
|
|
|
|
NM_000199.5(SGSH):c.89-17T>A
|
rs2041926405
|
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
|
NM_000199.5(SGSH):c.89-19T>C
|
|
|
|
NM_000199.5(SGSH):c.89-24CT[2]
|
rs1467638240
|
|
|
NM_000199.5(SGSH):c.89-2A>G
|
rs1369704445
|
|
|
NM_000199.5(SGSH):c.89-8T>G
|
rs2144783199
|
|
|
NM_000199.5(SGSH):c.89-9C>G
|
|
|
|
NM_000199.5(SGSH):c.89-9C>T
|
rs1333750382
|
|
|
NM_000199.5(SGSH):c.897G>A (p.Pro299=)
|
|
|
|
NM_000199.5(SGSH):c.897G>T (p.Pro299=)
|
|
|
|
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
|
|
|
|
NM_000199.5(SGSH):c.909del (p.Lys303fs)
|
rs775136193
|
|
|
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
|
|
|
|
NM_000199.5(SGSH):c.910C>T (p.Arg304Cys)
|
|
|
|
NM_000199.5(SGSH):c.911G>A (p.Arg304His)
|
|
|
|
NM_000199.5(SGSH):c.911G>C (p.Arg304Pro)
|
|
|
|
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)
|
|
|
|
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
|
rs1598742412
|
|
|
NM_000199.5(SGSH):c.924C>G (p.Val308=)
|
|
|
|
NM_000199.5(SGSH):c.924C>T (p.Val308=)
|
rs2144715938
|
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
|
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
|
|
|
|
NM_000199.5(SGSH):c.930G>A (p.Glu310=)
|
rs2144715838
|
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
|
NM_000199.5(SGSH):c.935A>G (p.Tyr312Cys)
|
|
|
|
NM_000199.5(SGSH):c.935A>T (p.Tyr312Phe)
|
|
|
|
NM_000199.5(SGSH):c.937G>C (p.Val313Leu)
|
rs769385447
|
|
|
NM_000199.5(SGSH):c.937_939dup (p.Val313dup)
|
rs1555620723
|
|
|
NM_000199.5(SGSH):c.941G>A (p.Ser314Asn)
|
|
|
|
NM_000199.5(SGSH):c.946C>T (p.Leu316=)
|
rs2041689069
|
|
|
NM_000199.5(SGSH):c.949+10T>C
|
rs2041688460
|
|
|
NM_000199.5(SGSH):c.949+12T>A
|
|
|
|
NM_000199.5(SGSH):c.949+13_949+14del
|
|
|
|
NM_000199.5(SGSH):c.949+15_949+18del
|
rs771786259
|
|
|
NM_000199.5(SGSH):c.949+18T>C
|
|
|
|
NM_000199.5(SGSH):c.949+1G>A
|
|
|
|
NM_000199.5(SGSH):c.949+4_949+5insA
|
|
|
|
NM_000199.5(SGSH):c.949+9T>G
|
|
|
|
NM_000199.5(SGSH):c.949+9_949+10del
|
|
|
|
NM_000199.5(SGSH):c.950-14C>T
|
|
|
|
NM_000199.5(SGSH):c.950-9C>G
|
rs2041634619
|
|
|
NM_000199.5(SGSH):c.950-9C>T
|
rs2041634619
|
|
|
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
|
rs747197522
|
|
|
NM_000199.5(SGSH):c.952C>T (p.Leu318Phe)
|
|
|
|
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
|
|
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
|
NM_000199.5(SGSH):c.962C>T (p.Thr321Ile)
|
rs2144699541
|
|
|
NM_000199.5(SGSH):c.96C>A (p.Asp32Glu)
|
rs139850991
|
|
|
NM_000199.5(SGSH):c.978C>T (p.Phe326=)
|
|
|
|
NM_000199.5(SGSH):c.980C>T (p.Ser327Leu)
|
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
|
NM_000199.5(SGSH):c.990C>T (p.Tyr330=)
|
|
|
|
NM_000199.5(SGSH):c.9C>T (p.Cys3=)
|
rs2144833432
|
|
|
NM_000202.5(IDS):c.[1464G>T,1466G>C]
|
|
|
|
NM_000202.6(IDS):c.[1403G>A;1394A>T]
|
|
|
|
NM_000202.7(IDS):c.-217_103del320
|
rs1557340558
|
|
|
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
|
rs2089378583
|
|
|
NM_000202.8(IDS):c.1003C>T (p.His335Tyr)
|
rs869025302
|
|
|
NM_000202.8(IDS):c.1004A>G (p.His335Arg)
|
|
|
|
NM_000202.8(IDS):c.1006+12G>T
|
|
|
|
NM_000202.8(IDS):c.1006+19C>G
|
|
|
|
NM_000202.8(IDS):c.1006+19C>T
|
|
|
|
NM_000202.8(IDS):c.1006+1G>A
|
rs869025308
|
|
|
NM_000202.8(IDS):c.1006+1G>C
|
|
|
|
NM_000202.8(IDS):c.1006+1G>T
|
rs869025308
|
|
|
NM_000202.8(IDS):c.1006+2T>G
|
rs2089378420
|
|
|
NM_000202.8(IDS):c.1006+9T>C
|
|
|
|
NM_000202.8(IDS):c.1006G>T (p.Gly336Trp)
|
rs1557338581
|
|
|
NM_000202.8(IDS):c.1007-133A>G
|
rs2124007227
|
|
|
NM_000202.8(IDS):c.1007-1G>A
|
|
|
|
NM_000202.8(IDS):c.1007-20C>T
|
rs2124006523
|
|
|
NM_000202.8(IDS):c.1007-7G>C
|
rs2124006476
|
|
|
NM_000202.8(IDS):c.1007G>A (p.Gly336Glu)
|
|
|
|
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro)
|
rs864622771
|
|
|
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_000202.8(IDS):c.1019G>A (p.Gly340Asp)
|
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
|
NM_000202.8(IDS):c.1021G>A (p.Glu341Lys)
|
rs2124006380
|
|
|
NM_000202.8(IDS):c.1024C>T (p.His342Tyr)
|
rs2089343220
|
|
|
NM_000202.8(IDS):c.1025A>C (p.His342Pro)
|
rs869025303
|
|
|
NM_000202.8(IDS):c.1028G>A (p.Gly343Glu)
|
rs2089343063
|
|
|
NM_000202.8(IDS):c.103+11C>T
|
|
|
|
NM_000202.8(IDS):c.103+13C>G
|
|
|
|
NM_000202.8(IDS):c.103+14C>T
|
|
|
|
NM_000202.8(IDS):c.103+19C>T
|
|
|
|
NM_000202.8(IDS):c.103+5C>T
|
rs782108228
|
|
|
NM_000202.8(IDS):c.103+9C>T
|
|
|
|
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg)
|
rs193302906
|
|
|
NM_000202.8(IDS):c.1034G>C (p.Trp345Ser)
|
rs2089342988
|
|
|
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys)
|
|
|
|
NM_000202.8(IDS):c.103G>C (p.Asp35His)
|
rs2089514224
|
|
|
NM_000202.8(IDS):c.104-10T>A
|
|
|
|
NM_000202.8(IDS):c.104-16C>G
|
|
|
|
NM_000202.8(IDS):c.104-16C>T
|
|
|
|
NM_000202.8(IDS):c.104-17C>T
|
|
|
|
NM_000202.8(IDS):c.104-19G>A
|
|
|
|
NM_000202.8(IDS):c.104-1_104delinsT
|
rs2089505743
|
|
|
NM_000202.8(IDS):c.104-2A>C
|
rs2089505773
|
|
|
NM_000202.8(IDS):c.104-2A>G
|
rs2089505773
|
|
|
NM_000202.8(IDS):c.104-4G>A
|
rs2124066481
|
|
|
NM_000202.8(IDS):c.1040A>G (p.Lys347Arg)
|
rs2089342939
|
|
|
NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter)
|
rs1569560392
|
|
|
NM_000202.8(IDS):c.1044C>T (p.Tyr348=)
|
|
|
|
NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
|
rs375836575
|
|
|
NM_000202.8(IDS):c.1053T>C (p.Phe351=)
|
rs2124006183
|
|
|
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
|
|
|
|
NM_000202.8(IDS):c.1065C>T (p.Thr355=)
|
|
|
|
NM_000202.8(IDS):c.1067A>G (p.His356Arg)
|
|
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr)
|
|
|
|
NM_000202.8(IDS):c.1080_1081insGAATAA (p.Phe361delinsGluTer)
|
rs2124006012
|
|
|
NM_000202.8(IDS):c.1083C>G (p.Phe361Leu)
|
|
|
|
NM_000202.8(IDS):c.1089T>C (p.Val363=)
|
|
|
|
NM_000202.8(IDS):c.108T>G (p.Ala36=)
|
rs2089505645
|
|
|
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala)
|
|
|
|
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser)
|
rs2124005937
|
|
|
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser)
|
rs1557338131
|
|
|
NM_000202.8(IDS):c.1101G>A (p.Thr367=)
|
|
|
|
NM_000202.8(IDS):c.1106C>A (p.Ser369Ter)
|
rs1557338127
|
|
|
NM_000202.8(IDS):c.1113G>T (p.Pro371=)
|
rs146615651
|
|
|
NM_000202.8(IDS):c.1115del (p.Glu372fs)
|
rs2124005776
|
|
|
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
|
|
|
|
NM_000202.8(IDS):c.1121G>T (p.Gly374Val)
|
rs2124005760
|
|
|
NM_000202.8(IDS):c.1122C>A (p.Gly374=)
|
rs113993948
|
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
|
NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)
|
rs782634993
|
|
|
NM_000202.8(IDS):c.1129del (p.Leu377fs)
|
rs2089341718
|
|
|
NM_000202.8(IDS):c.1132_1133del (p.Phe378fs)
|
rs869025306
|
|
|
NM_000202.8(IDS):c.1142T>G (p.Leu381Arg)
|
rs1602730439
|
|
|
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr)
|
rs2089341258
|
|
|
NM_000202.8(IDS):c.1149T>G (p.Pro383=)
|
|
|
|
NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)
|
rs2089341188
|
|
|
NM_000202.8(IDS):c.1165C>T (p.Gln389Ter)
|
|
|
|
NM_000202.8(IDS):c.1166A>T (p.Gln389Leu)
|
|
|
|
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
|
|
|
|
NM_000202.8(IDS):c.1170del (p.Met391fs)
|
|
|
|
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
|
|
|
|
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
|
rs2089505317
|
|
|
NM_000202.8(IDS):c.1180+14T>C
|
|
|
|
NM_000202.8(IDS):c.1180+17A>G
|
|
|
|
NM_000202.8(IDS):c.1180+20G>A
|
|
|
|
NM_000202.8(IDS):c.1180+7A>C
|
rs2089340679
|
|
|
NM_000202.8(IDS):c.1181-14G>A
|
|
|
|
NM_000202.8(IDS):c.1181-1G>A
|
rs864622777
|
|
|
NM_000202.8(IDS):c.1181-1G>C
|
rs864622777
|
|
|
NM_000202.8(IDS):c.1188A>G (p.Gln396=)
|
rs2123995158
|
|
|
NM_000202.8(IDS):c.1188del (p.Gln396fs)
|
|
|
|
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
|
|
|
|
NM_000202.8(IDS):c.1191del (p.Met398fs)
|
rs2089308367
|
|
|
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
|
|
|
|
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
|
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
|
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
|
|
|
|
NM_000202.8(IDS):c.1203G>A (p.Val401=)
|
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
|
NM_000202.8(IDS):c.1212G>C (p.Val404=)
|
rs2123995105
|
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
|
NM_000202.8(IDS):c.1214_1220del (p.Ser405fs)
|
rs2089308167
|
|
|
NM_000202.8(IDS):c.1216_1217del (p.Leu406fs)
|
rs2123995091
|
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
|
NM_000202.8(IDS):c.1221del (p.Thr409fs)
|
rs2089308131
|
|
|
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
|
|
|
|
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
|
|
|
|
NM_000202.8(IDS):c.1224dup (p.Thr409fs)
|
rs2123995054
|
|
|
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
|
|
|
|
NM_000202.8(IDS):c.1234G>T (p.Gly412Ter)
|
rs2089307950
|
|
|
NM_000202.8(IDS):c.1239_1240insCT (p.Ala414fs)
|
rs2089307879
|
|
|
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
|
|
|
|
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
|
rs2123994961
|
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
|
NM_000202.8(IDS):c.1254del (p.Pro419fs)
|
rs2123994946
|
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
|
NM_000202.8(IDS):c.1259del (p.Pro420fs)
|
rs2089307675
|
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
|
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly)
|
rs199422229
|
|
|
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr)
|
rs886044835
|
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
|
NM_000202.8(IDS):c.1272del (p.Pro425fs)
|
rs2123994828
|
|
|
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
|
|
|
|
NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr)
|
|
|
|
NM_000202.8(IDS):c.1293G>A (p.Leu431=)
|
rs782203657
|
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
|
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
|
rs2089307094
|
|
|
NM_000202.8(IDS):c.129C>T (p.Ile43=)
|
rs2124066238
|
|
|
NM_000202.8(IDS):c.12C>G (p.Pro4=)
|
|
|
|
NM_000202.8(IDS):c.12C>T (p.Pro4=)
|
|
|
|
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
|
|
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
|
NM_000202.8(IDS):c.1316del (p.Leu439fs)
|
rs2123994709
|
|
|
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
|
|
|
|
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
|
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
|
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)
|
rs199422227
|
|
|
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
|
|
|
|
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
|
|
|
|
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
|
|
|
|
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
|
|
|
|
NM_000202.8(IDS):c.133G>C (p.Asp45His)
|
rs869025301
|
|
|
NM_000202.8(IDS):c.133del (p.Asp45fs)
|
rs2089504895
|
|
|
NM_000202.8(IDS):c.1340T>A (p.Leu447Ter)
|
rs2089306573
|
|
|
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
|
|
|
|
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
|
|
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
|
NM_000202.8(IDS):c.1350del (p.Pro451fs)
|
rs2089306467
|
|
|
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
|
|
|
|
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
|
rs920711197
|
|
|
NM_000202.8(IDS):c.1353_1357del (p.Tyr452fs)
|
rs2089306333
|
|
|
NM_000202.8(IDS):c.1356C>A (p.Tyr452Ter)
|
|
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
|
NM_000202.8(IDS):c.136G>A (p.Asp46Asn)
|
rs2089504816
|
|
|
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr)
|
rs2089504816
|
|
|
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
|
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
|
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
|
rs2123994508
|
|
|
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
|
|
|
|
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
|
|
|
|
NM_000202.8(IDS):c.1387T>C (p.Tyr463His)
|
rs1365886210
|
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
|
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
|
|
|
|
NM_000202.8(IDS):c.138C>A (p.Asp46Glu)
|
|
|
|
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)
|
rs864622772
|
|
|
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
|
rs2123994427
|
|
|
NM_000202.8(IDS):c.13C>A (p.Arg5=)
|
|
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
|
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
|
rs1602725808
|
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
|
NM_000202.8(IDS):c.1402del (p.Arg468fs)
|
rs2123994397
|
|
|
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu)
|
rs113993946
|
|
|
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu)
|
rs2123994360
|
|
|
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
|
|
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
|
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
|
rs2123994324
|
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
|
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu)
|
rs2089305403
|
|
|
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
|
rs1569560371
|
|
|
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)
|
rs199422230
|
|
|
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del)
|
rs2089305217
|
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
|
NM_000202.8(IDS):c.1431del (p.Asp478fs)
|
rs2089305275
|
|
|
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)
|
rs864622773
|
|
|
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
|
|
|
|
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
|
rs2123994213
|
|
|
NM_000202.8(IDS):c.1438_1442del (p.Pro480fs)
|
rs2089305109
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
|
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
|
rs1569560528
|
|
|
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
|
|
|
|
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)
|
rs2123994237
|
|
|
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
|
|
|
|
NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)
|
|
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
|
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
|
|
|
|
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys)
|
rs782430567
|
|
|
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
|
|
|
|
NM_000202.8(IDS):c.1454_1455del (p.Ile485fs)
|
rs2089305017
|
|
|
NM_000202.8(IDS):c.1463del (p.Met488fs)
|
rs869025307
|
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
|
NM_000202.8(IDS):c.1466del (p.Gly489fs)
|
rs2123994190
|
|
|
NM_000202.8(IDS):c.1470T>A (p.Tyr490Ter)
|
|
|
|
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter)
|
rs2123994176
|
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
|
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro)
|
rs782347729
|
|
|
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
|
|
|
|
NM_000202.8(IDS):c.147C>G (p.Pro49=)
|
rs1557340415
|
|
|
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
|
rs2123994147
|
|
|
NM_000202.8(IDS):c.1491_1492dup (p.Arg498fs)
|
rs2089304532
|
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
|
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter)
|
rs2089304408
|
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
|
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
|
|
|
|
NM_000202.8(IDS):c.1500T>C (p.Thr500=)
|
rs1602725629
|
|
|
NM_000202.8(IDS):c.1503G>C (p.Val501=)
|
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
|
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
|
rs2089304297
|
|
|
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)
|
rs199422228
|
|
|
NM_000202.8(IDS):c.1505G>C (p.Trp502Ser)
|
rs199422228
|
|
|
NM_000202.8(IDS):c.1506G>A (p.Trp502Ter)
|
|
|
|
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys)
|
rs2124648374
|
|
|
NM_000202.8(IDS):c.1508T>A (p.Val503Asp)
|
rs398123248
|
|
|
NM_000202.8(IDS):c.151C>T (p.Leu51=)
|
rs1340608360
|
|
|
NM_000202.8(IDS):c.152_236del (p.Leu51fs)
|
rs2124065699
|
|
|
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
|
|
|
|
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
|
rs782673868
|
|
|
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
|
|
|
|
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
|
|
|
|
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys)
|
rs2124648301
|
|
|
NM_000202.8(IDS):c.1561dup (p.Glu521fs)
|
rs2124648304
|
|
|
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp)
|
rs1602725543
|
|
|
NM_000202.8(IDS):c.1564C>T (p.Leu522=)
|
rs2124648290
|
|
|
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
|
rs2089303696
|
|
|
NM_000202.8(IDS):c.156C>T (p.Gly52=)
|
rs2089504569
|
|
|
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
|
rs2124648280
|
|
|
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
|
|
|
|
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
|
|
|
|
NM_000202.8(IDS):c.1589T>A (p.Leu530Ter)
|
rs2124648259
|
|
|
NM_000202.8(IDS):c.1589dup (p.Leu530fs)
|
rs2124648266
|
|
|
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)
|
rs886044837
|
|
|
NM_000202.8(IDS):c.15G>A (p.Arg5=)
|
rs2124069552
|
|
|
NM_000202.8(IDS):c.15G>T (p.Arg5=)
|
rs2124069552
|
|
|
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
|
rs2089303285
|
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
|
NM_000202.8(IDS):c.1617C>T (p.Ser539=)
|
rs782717602
|
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
|
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
|
|
|
|
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
|
|
|
|
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
|
rs141088021
|
|
|
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
|
|
|
|
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
|
|
|
|
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
|
|
|
|
NM_000202.8(IDS):c.165G>A (p.Gly55=)
|
|
|
|
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
|
|
|
|
NM_000202.8(IDS):c.171G>A (p.Lys57=)
|
|
|
|
NM_000202.8(IDS):c.172C>T (p.Leu58=)
|
|
|
|
NM_000202.8(IDS):c.172del (p.Leu58fs)
|
|
|
|
NM_000202.8(IDS):c.181T>C (p.Ser61Pro)
|
rs113993955
|
|
|
NM_000202.8(IDS):c.182C>T (p.Ser61Phe)
|
rs2124065955
|
|
|
NM_000202.8(IDS):c.183C>A (p.Ser61=)
|
|
|
|
NM_000202.8(IDS):c.183C>T (p.Ser61=)
|
rs2124065941
|
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
|
NM_000202.8(IDS):c.18C>G (p.Thr6=)
|
|
|
|
NM_000202.8(IDS):c.191T>A (p.Ile64Asn)
|
rs781997631
|
|
|
NM_000202.8(IDS):c.196C>T (p.Gln66Ter)
|
rs1557340403
|
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
|
|
|
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
|
rs2124065847
|
|
|
NM_000202.8(IDS):c.207C>T (p.Ser69=)
|
|
|
|
NM_000202.8(IDS):c.212G>A (p.Ser71Asn)
|
rs113993954
|
|
|
NM_000202.8(IDS):c.212G>T (p.Ser71Ile)
|
rs113993954
|
|
|
NM_000202.8(IDS):c.213C>T (p.Ser71=)
|
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
|
NM_000202.8(IDS):c.222C>T (p.Phe74=)
|
|
|
|
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
|
rs2089503778
|
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
|
NM_000202.8(IDS):c.22C>A (p.Arg8=)
|
|
|
|
NM_000202.8(IDS):c.22C>T (p.Arg8Ter)
|
rs1602750610
|
|
|
NM_000202.8(IDS):c.22_37del (p.Arg8fs)
|
rs864622775
|
|
|
NM_000202.8(IDS):c.230C>A (p.Ala77Asp)
|
|
|
|
NM_000202.8(IDS):c.231C>T (p.Ala77=)
|
rs1602749217
|
|
|
NM_000202.8(IDS):c.236C>T (p.Ala79Val)
|
rs368513342
|
|
|
NM_000202.8(IDS):c.238C>T (p.Gln80Ter)
|
rs1569560527
|
|
|
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
|
|
|
|
NM_000202.8(IDS):c.240+11del
|
|
|
|
NM_000202.8(IDS):c.240+12A>G
|
|
|
|
NM_000202.8(IDS):c.240+14C>T
|
|
|
|
NM_000202.8(IDS):c.240+20G>A
|
|
|
|
NM_000202.8(IDS):c.240+2T>C
|
|
|
|
NM_000202.8(IDS):c.240+2_240+3insTCTGGGA
|
rs2089503537
|
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
|
NM_000202.8(IDS):c.240+7C>T
|
rs2124065624
|
|
|
NM_000202.8(IDS):c.241-14C>G
|
|
|
|
NM_000202.8(IDS):c.241-16T>C
|
|
|
|
NM_000202.8(IDS):c.241-2A>G
|
|
|
|
NM_000202.8(IDS):c.241-3C>G
|
rs2124063783
|
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
|
NM_000202.8(IDS):c.241-5A>G
|
|
|
|
NM_000202.8(IDS):c.241-5A>T
|
rs113993952
|
|
|
NM_000202.8(IDS):c.241-6T>G
|
|
|
|
NM_000202.8(IDS):c.241-7C>T
|
rs2124063828
|
|
|
NM_000202.8(IDS):c.241-9C>G
|
rs2089497858
|
|
|
NM_000202.8(IDS):c.241C>T (p.Gln81Ter)
|
|
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
|
NM_000202.8(IDS):c.248del (p.Val83fs)
|
rs2089497718
|
|
|
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
|
rs1557340286
|
|
|
NM_000202.8(IDS):c.253G>A (p.Ala85Thr)
|
rs113993949
|
|
|
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
|
rs1557340280
|
|
|
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)
|
rs1557340280
|
|
|
NM_000202.8(IDS):c.258G>A (p.Pro86=)
|
|
|
|
NM_000202.8(IDS):c.262C>T (p.Arg88Cys)
|
rs398123249
|
|
|
NM_000202.8(IDS):c.263G>A (p.Arg88His)
|
rs2089497431
|
|
|
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
|
rs2089497300
|
|
|
NM_000202.8(IDS):c.283A>T (p.Arg95Trp)
|
rs2089497268
|
|
|
NM_000202.8(IDS):c.285_287del (p.Arg96del)
|
|
|
|
NM_000202.8(IDS):c.28C>T (p.Leu10Phe)
|
|
|
|
NM_000202.8(IDS):c.292del (p.Asp98fs)
|
|
|
|
NM_000202.8(IDS):c.2T>C (p.Met1Thr)
|
rs2124069617
|
|
|
NM_000202.8(IDS):c.300C>T (p.Thr100=)
|
rs2124063502
|
|
|
NM_000202.8(IDS):c.305T>C (p.Leu102Pro)
|
rs1557340261
|
|
|
NM_000202.8(IDS):c.305del (p.Leu102fs)
|
rs2089496744
|
|
|
NM_000202.8(IDS):c.306G>A (p.Leu102=)
|
|
|
|
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp)
|
rs2089496667
|
|
|
NM_000202.8(IDS):c.309C>G (p.Tyr103Ter)
|
rs1174495581
|
|
|
NM_000202.8(IDS):c.30dup (p.Leu11fs)
|
|
|
|
NM_000202.8(IDS):c.312C>T (p.Asp104=)
|
rs2124063377
|
|
|
NM_000202.8(IDS):c.315C>T (p.Phe105=)
|
rs2124063363
|
|
|
NM_000202.8(IDS):c.31C>T (p.Leu11Phe)
|
|
|
|
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
|
|
|
|
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
|
rs2124063287
|
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
|
NM_000202.8(IDS):c.333G>T (p.Val111=)
|
rs2124063244
|
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_000202.8(IDS):c.33C>T (p.Leu11=)
|
|
|
|
NM_000202.8(IDS):c.341del (p.Gly114fs)
|
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
|
NM_000202.8(IDS):c.349_351del (p.Ser117del)
|
rs483352905
|
|
|
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
|
|
|
|
NM_000202.8(IDS):c.356del (p.Ile119fs)
|
rs2124063133
|
|
|
NM_000202.8(IDS):c.359C>A (p.Pro120His)
|
rs193302911
|
|
|
NM_000202.8(IDS):c.359C>G (p.Pro120Arg)
|
rs193302911
|
|
|
NM_000202.8(IDS):c.360C>G (p.Pro120=)
|
|
|
|
NM_000202.8(IDS):c.361C>T (p.Gln121Ter)
|
rs2124063075
|
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
|
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
|
|
|
|
NM_000202.8(IDS):c.36G>A (p.Trp12Ter)
|
|
|
|
NM_000202.8(IDS):c.378T>C (p.Asn126=)
|
rs2124063034
|
|
|
NM_000202.8(IDS):c.37C>T (p.Leu13=)
|
|
|
|
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
|
|
|
|
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser)
|
rs2124063021
|
|
|
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
|
|
|
|
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
|
rs1557340233
|
|
|
NM_000202.8(IDS):c.401G>A (p.Gly134Glu)
|
rs193302910
|
|
|
NM_000202.8(IDS):c.403A>G (p.Lys135Glu)
|
rs2089495673
|
|
|
NM_000202.8(IDS):c.404A>G (p.Lys135Arg)
|
rs104894861
|
|
|
NM_000202.8(IDS):c.404_405del (p.Lys135fs)
|
rs1557340221
|
|
|
NM_000202.8(IDS):c.411del (p.His138fs)
|
rs864622776
|
|
|
NM_000202.8(IDS):c.413A>G (p.His138Arg)
|
|
|
|
NM_000202.8(IDS):c.414C>T (p.His138=)
|
rs1602748259
|
|
|
NM_000202.8(IDS):c.418+10C>T
|
|
|
|
NM_000202.8(IDS):c.418+11A>G
|
|
|
|
NM_000202.8(IDS):c.418+14T>A
|
|
|
|
NM_000202.8(IDS):c.418+14T>C
|
|
|
|
NM_000202.8(IDS):c.418+17A>G
|
|
|
|
NM_000202.8(IDS):c.418+1G>C
|
rs1602748255
|
|
|
NM_000202.8(IDS):c.418+20G>T
|
|
|
|
NM_000202.8(IDS):c.418+2T>C
|
rs2124062810
|
|
|
NM_000202.8(IDS):c.418+34G>T
|
rs1463289439
|
|
|
NM_000202.8(IDS):c.418+4C>G
|
rs782011209
|
|
|
NM_000202.8(IDS):c.418+6_418+7del
|
|
|
|
NM_000202.8(IDS):c.418+8T>C
|
|
|
|
NM_000202.8(IDS):c.418+9C>G
|
|
|
|
NM_000202.8(IDS):c.419-10T>C
|
|
|
|
NM_000202.8(IDS):c.419-16dup
|
rs781852261
|
|
|
NM_000202.8(IDS):c.419-17C>G
|
|
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
|
NM_000202.8(IDS):c.419-2A>G
|
rs2089476206
|
|
|
NM_000202.8(IDS):c.419-3A>G
|
|
|
|
NM_000202.8(IDS):c.419-4del
|
|
|
|
NM_000202.8(IDS):c.419-6del
|
rs781852261
|
|
|
NM_000202.8(IDS):c.420G>T (p.Gly140=)
|
|
|
|
NM_000202.8(IDS):c.421A>G (p.Ile141Val)
|
|
|
|
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr)
|
rs193302908
|
|
|
NM_000202.8(IDS):c.438C>A (p.Thr146=)
|
rs1141608
|
|
|
NM_000202.8(IDS):c.441T>C (p.Asp147=)
|
|
|
|
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr)
|
rs1602745838
|
|
|
NM_000202.8(IDS):c.448C>T (p.Pro150Ser)
|
|
|
|
NM_000202.8(IDS):c.450G>T (p.Pro150=)
|
rs201892132
|
|
|
NM_000202.8(IDS):c.454A>C (p.Ser152Arg)
|
rs2124055504
|
|
|
NM_000202.8(IDS):c.455G>A (p.Ser152Asn)
|
rs193302914
|
|
|
NM_000202.8(IDS):c.458G>A (p.Trp153Ter)
|
rs2124055460
|
|
|
NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs)
|
rs869025304
|
|
|
NM_000202.8(IDS):c.465T>C (p.Phe155=)
|
rs149210251
|
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
|
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
|
|
|
|
NM_000202.8(IDS):c.473ATC[1] (p.His159del)
|
rs1557339887
|
|
|
NM_000202.8(IDS):c.474T>C (p.Tyr158=)
|
|
|
|
NM_000202.8(IDS):c.474del (p.His159fs)
|
rs2124055341
|
|
|
NM_000202.8(IDS):c.479C>G (p.Pro160Arg)
|
rs104894856
|
|
|
NM_000202.8(IDS):c.480T>A (p.Pro160=)
|
rs2124055254
|
|
|
NM_000202.8(IDS):c.482C>G (p.Ser161Cys)
|
|
|
|
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
|
|
|
|
NM_000202.8(IDS):c.483C>T (p.Ser161=)
|
rs2124055212
|
|
|
NM_000202.8(IDS):c.49C>T (p.Leu17=)
|
rs781834400
|
|
|
NM_000202.8(IDS):c.500A>G (p.Asn167Ser)
|
|
|
|
NM_000202.8(IDS):c.507+14A>G
|
|
|
|
NM_000202.8(IDS):c.507+17G>C
|
|
|
|
NM_000202.8(IDS):c.507+17G>T
|
|
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
|
NM_000202.8(IDS):c.507+20A>G
|
|
|
|
NM_000202.8(IDS):c.507+20A>T
|
|
|
|
NM_000202.8(IDS):c.507+2T>G
|
rs2124055161
|
|
|
NM_000202.8(IDS):c.507+7C>T
|
rs1225416290
|
|
|
NM_000202.8(IDS):c.508-15A>G
|
|
|
|
NM_000202.8(IDS):c.508-19T>A
|
rs2124047400
|
|
|
NM_000202.8(IDS):c.508-19T>C
|
|
|
|
NM_000202.8(IDS):c.508-1G>A
|
rs113993947
|
|
|
NM_000202.8(IDS):c.508-1G>C
|
rs113993947
|
|
|
NM_000202.8(IDS):c.508-20A>G
|
|
|
|
NM_000202.8(IDS):c.508-20del
|
|
|
|
NM_000202.8(IDS):c.508-5G>T
|
rs1889382373
|
|
|
NM_000202.8(IDS):c.508-8T>G
|
|
|
|
NM_000202.8(IDS):c.509_510del (p.Thr170fs)
|
rs483352904
|
|
|
NM_000202.8(IDS):c.512G>A (p.Cys171Tyr)
|
rs2089452802
|
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
|
NM_000202.8(IDS):c.516A>G (p.Arg172=)
|
|
|
|
NM_000202.8(IDS):c.517G>A (p.Gly173Arg)
|
|
|
|
NM_000202.8(IDS):c.522A>G (p.Pro174=)
|
rs2124047235
|
|
|
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
|
rs2089452549
|
|
|
NM_000202.8(IDS):c.534C>T (p.Leu178=)
|
rs2124047211
|
|
|
NM_000202.8(IDS):c.540C>T (p.Ala180=)
|
rs2089452510
|
|
|
NM_000202.8(IDS):c.546G>A (p.Leu182=)
|
|
|
|
NM_000202.8(IDS):c.54C>T (p.Ser18=)
|
rs782607292
|
|
|
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)
|
|
|
|
NM_000202.8(IDS):c.551G>T (p.Cys184Phe)
|
|
|
|
NM_000202.8(IDS):c.553C>T (p.Pro185Ser)
|
|
|
|
NM_000202.8(IDS):c.570T>C (p.Asp190=)
|
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
|
NM_000202.8(IDS):c.576C>G (p.Pro192=)
|
|
|
|
NM_000202.8(IDS):c.577G>C (p.Glu193Gln)
|
|
|
|
NM_000202.8(IDS):c.578A>G (p.Glu193Gly)
|
|
|
|
NM_000202.8(IDS):c.57C>G (p.Ser19=)
|
|
|
|
NM_000202.8(IDS):c.57del (p.Val20fs)
|
rs2124069318
|
|
|
NM_000202.8(IDS):c.589_592del (p.Pro197fs)
|
rs1602742854
|
|
|
NM_000202.8(IDS):c.58G>C (p.Val20Leu)
|
|
|
|
NM_000202.8(IDS):c.590C>T (p.Pro197Leu)
|
rs2089451912
|
|
|
NM_000202.8(IDS):c.592G>A (p.Asp198Asn)
|
rs193302904
|
|
|
NM_000202.8(IDS):c.594_595del (p.Asp198fs)
|
rs2124046923
|
|
|
NM_000202.8(IDS):c.596_599del (p.Lys199fs)
|
rs2089451657
|
|
|
NM_000202.8(IDS):c.601_602del (p.Ser201fs)
|
rs2124046861
|
|
|
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
|
rs2124046817
|
|
|
NM_000202.8(IDS):c.610C>T (p.Gln204Ter)
|
rs1557339532
|
|
|
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)
|
rs864622779
|
|
|
NM_000202.8(IDS):c.613G>C (p.Ala205Pro)
|
rs864622779
|
|
|
NM_000202.8(IDS):c.613del (p.Ala205fs)
|
rs2089451478
|
|
|
NM_000202.8(IDS):c.622TTG[1] (p.Leu209del)
|
rs2089451270
|
|
|
NM_000202.8(IDS):c.623T>A (p.Leu208Ter)
|
|
|
|
NM_000202.8(IDS):c.625T>C (p.Leu209=)
|
|
|
|
NM_000202.8(IDS):c.631A>T (p.Lys211Ter)
|
|
|
|
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
|
|
|
|
NM_000202.8(IDS):c.636del (p.Met212fs)
|
|
|
|
NM_000202.8(IDS):c.63C>T (p.Cys21=)
|
rs2124069268
|
|
|
NM_000202.8(IDS):c.642G>A (p.Thr214=)
|
rs1738744298
|
|
|
NM_000202.8(IDS):c.642G>T (p.Thr214=)
|
rs1738744298
|
|
|
NM_000202.8(IDS):c.64G>A (p.Val22Ile)
|
|
|
|
NM_000202.8(IDS):c.653_654del (p.Pro218fs)
|
rs2089450982
|
|
|
NM_000202.8(IDS):c.664G>T (p.Ala222Ser)
|
|
|
|
NM_000202.8(IDS):c.669T>G (p.Val223=)
|
rs2124046491
|
|
|
NM_000202.8(IDS):c.66C>T (p.Val22=)
|
|
|
|
NM_000202.8(IDS):c.670G>A (p.Gly224Arg)
|
rs2089450754
|
|
|
NM_000202.8(IDS):c.671G>C (p.Gly224Ala)
|
|
|
|
NM_000202.8(IDS):c.671_672del (p.Gly224fs)
|
|
|
|
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
|
|
|
|
NM_000202.8(IDS):c.683C>A (p.Pro228Gln)
|
rs113993945
|
|
|
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
|
rs113993945
|
|
|
NM_000202.8(IDS):c.685C>T (p.His229Tyr)
|
|
|
|
NM_000202.8(IDS):c.686A>G (p.His229Arg)
|
|
|
|
NM_000202.8(IDS):c.687del (p.His229fs)
|
rs2089450471
|
|
|
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
|
rs2089450305
|
|
|
NM_000202.8(IDS):c.692C>T (p.Pro231Leu)
|
rs2089450305
|
|
|
NM_000202.8(IDS):c.693C>T (p.Pro231=)
|
rs2124046263
|
|
|
NM_000202.8(IDS):c.695dup (p.Arg233fs)
|
|
|
|
NM_000202.8(IDS):c.696_697del (p.Phe232fs)
|
|
|
|
NM_000202.8(IDS):c.699A>G (p.Arg233=)
|
|
|
|
NM_000202.8(IDS):c.69C>G (p.Ala23=)
|
rs1602750461
|
|
|
NM_000202.8(IDS):c.69C>T (p.Ala23=)
|
rs1602750461
|
|
|
NM_000202.8(IDS):c.702C>A (p.Tyr234Ter)
|
rs1569560489
|
|
|
NM_000202.8(IDS):c.702C>T (p.Tyr234=)
|
|
|
|
NM_000202.8(IDS):c.705C>T (p.Pro235=)
|
|
|
|
NM_000202.8(IDS):c.708+10T>A
|
rs2124046135
|
|
|
NM_000202.8(IDS):c.708+19G>T
|
|
|
|
NM_000202.8(IDS):c.708+1G>A
|
rs864622778
|
|
|
NM_000202.8(IDS):c.708+1G>T
|
rs864622778
|
|
|
NM_000202.8(IDS):c.708+2T>C
|
|
|
|
NM_000202.8(IDS):c.708+6G>T
|
|
|
|
NM_000202.8(IDS):c.708G>A (p.Lys236=)
|
rs1602742620
|
|
|
NM_000202.8(IDS):c.709-1G>A
|
rs2089438403
|
|
|
NM_000202.8(IDS):c.709-661del
|
rs1196180401
|
|
|
NM_000202.8(IDS):c.715_721del (p.Gln239fs)
|
rs2089438281
|
|
|
NM_000202.8(IDS):c.729C>T (p.Pro243=)
|
|
|
|
NM_000202.8(IDS):c.72C>T (p.Leu24=)
|
rs781800570
|
|
|
NM_000202.8(IDS):c.737del (p.Asn246fs)
|
rs2124042006
|
|
|
NM_000202.8(IDS):c.738C>T (p.Asn246=)
|
|
|
|
NM_000202.8(IDS):c.741_743delinsTA (p.Leu249fs)
|
|
|
|
NM_000202.8(IDS):c.744C>T (p.Thr248=)
|
|
|
|
NM_000202.8(IDS):c.747G>A (p.Leu249=)
|
rs2124041932
|
|
|
NM_000202.8(IDS):c.749C>T (p.Ala250Val)
|
|
|
|
NM_000202.8(IDS):c.750C>G (p.Ala250=)
|
|
|
|
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)
|
rs146458524
|
|
|
NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer)
|
rs869025305
|
|
|
NM_000202.8(IDS):c.759C>G (p.Pro253=)
|
rs1214276270
|
|
|
NM_000202.8(IDS):c.771T>A (p.Asp257Glu)
|
|
|
|
NM_000202.8(IDS):c.773G>A (p.Gly258Asp)
|
rs2124041717
|
|
|
NM_000202.8(IDS):c.776_777dup (p.Pro260fs)
|
rs2089437359
|
|
|
NM_000202.8(IDS):c.777A>T (p.Leu259=)
|
rs782773319
|
|
|
NM_000202.8(IDS):c.777dup (p.Pro260fs)
|
|
|
|
NM_000202.8(IDS):c.780C>T (p.Pro260=)
|
|
|
|
NM_000202.8(IDS):c.781C>A (p.Pro261Thr)
|
rs141720810
|
|
|
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
|
rs141720810
|
|
|
NM_000202.8(IDS):c.782C>T (p.Pro261Leu)
|
|
|
|
NM_000202.8(IDS):c.782del (p.Pro261fs)
|
|
|
|
NM_000202.8(IDS):c.783T>C (p.Pro261=)
|
|
|
|
NM_000202.8(IDS):c.786_787delinsC (p.Ala263fs)
|
rs2089437147
|
|
|
NM_000202.8(IDS):c.78C>A (p.Ser26=)
|
|
|
|
NM_000202.8(IDS):c.794A>T (p.Asn265Ile)
|
|
|
|
NM_000202.8(IDS):c.795C>A (p.Asn265Lys)
|
rs1207417919
|
|
|
NM_000202.8(IDS):c.795C>T (p.Asn265=)
|
|
|
|
NM_000202.8(IDS):c.800_801del (p.Trp267fs)
|
rs2089436972
|
|
|
NM_000202.8(IDS):c.801G>T (p.Trp267Cys)
|
rs2124041510
|
|
|
NM_000202.8(IDS):c.801dup (p.Met268fs)
|
rs2089436936
|
|
|
NM_000202.8(IDS):c.806A>G (p.Asp269Gly)
|
rs1085308006
|
|
|
NM_000202.8(IDS):c.806A>T (p.Asp269Val)
|
rs1085308006
|
|
|
NM_000202.8(IDS):c.811A>T (p.Arg271Trp)
|
rs1602740912
|
|
|
NM_000202.8(IDS):c.813G>A (p.Arg271=)
|
|
|
|
NM_000202.8(IDS):c.814C>T (p.Gln272Ter)
|
rs2089436689
|
|
|
NM_000202.8(IDS):c.816A>G (p.Gln272=)
|
|
|
|
NM_000202.8(IDS):c.817C>T (p.Arg273Trp)
|
|
|
|
NM_000202.8(IDS):c.819G>A (p.Arg273=)
|
|
|
|
NM_000202.8(IDS):c.820G>T (p.Glu274Ter)
|
rs193302907
|
|
|
NM_000202.8(IDS):c.823G>A (p.Asp275Asn)
|
|
|
|
NM_000202.8(IDS):c.823G>T (p.Asp275Tyr)
|
|
|
|
NM_000202.8(IDS):c.826G>A (p.Val276Ile)
|
|
|
|
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
|
rs200694354
|
|
|
NM_000202.8(IDS):c.829C>T (p.Gln277Ter)
|
rs2089436387
|
|
|
NM_000202.8(IDS):c.833C>T (p.Ala278Val)
|
|
|
|
NM_000202.8(IDS):c.834C>T (p.Ala278=)
|
rs2124041303
|
|
|
NM_000202.8(IDS):c.838_842del (p.Asn280fs)
|
rs2089436271
|
|
|
NM_000202.8(IDS):c.846T>C (p.Ser282=)
|
|
|
|
NM_000202.8(IDS):c.84G>T (p.Thr28=)
|
rs1194554189
|
|
|
NM_000202.8(IDS):c.858T>G (p.Gly286=)
|
|
|
|
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
|
|
|
|
NM_000202.8(IDS):c.867del (p.Val290fs)
|
|
|
|
NM_000202.8(IDS):c.876T>G (p.Phe292Leu)
|
|
|
|
NM_000202.8(IDS):c.877C>T (p.Gln293Ter)
|
|
|
|
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
|
rs2089435877
|
|
|
NM_000202.8(IDS):c.879+10A>G
|
rs2124041048
|
|
|
NM_000202.8(IDS):c.879+11del
|
|
|
|
NM_000202.8(IDS):c.879+12A>G
|
|
|
|
NM_000202.8(IDS):c.879+14A>G
|
|
|
|
NM_000202.8(IDS):c.879+17T>G
|
|
|
|
NM_000202.8(IDS):c.879+20G>A
|
|
|
|
NM_000202.8(IDS):c.879+7A>G
|
|
|
|
NM_000202.8(IDS):c.879+9G>C
|
|
|
|
NM_000202.8(IDS):c.880-11del
|
|
|
|
NM_000202.8(IDS):c.880-11dup
|
|
|
|
NM_000202.8(IDS):c.880-19A>T
|
|
|
|
NM_000202.8(IDS):c.880-19del
|
|
|
|
NM_000202.8(IDS):c.880-20T>A
|
|
|
|
NM_000202.8(IDS):c.880-2A>C
|
|
|
|
NM_000202.8(IDS):c.880-2A>G
|
|
|
|
NM_000202.8(IDS):c.880-2A>T
|
|
|
|
NM_000202.8(IDS):c.880-2_880-1delinsCC
|
|
|
|
NM_000202.8(IDS):c.880-4G>A
|
|
|
|
NM_000202.8(IDS):c.880-5del
|
rs1458652265
|
|
|
NM_000202.8(IDS):c.880-72A>G
|
rs782031668
|
|
|
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
|
|
|
|
NM_000202.8(IDS):c.884A>T (p.Lys295Ile)
|
rs113993953
|
|
|
NM_000202.8(IDS):c.886dup (p.Ile296fs)
|
rs2124020896
|
|
|
NM_000202.8(IDS):c.88_89insAT (p.Ala30fs)
|
rs1602750400
|
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
|
|
|
NM_000202.8(IDS):c.895dup (p.Ser299fs)
|
rs2124020775
|
|
|
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
|
rs2089380312
|
|
|
NM_000202.8(IDS):c.899_900del (p.Tyr300fs)
|
rs2089380268
|
|
|
NM_000202.8(IDS):c.904G>T (p.Ala302Ser)
|
|
|
|
NM_000202.8(IDS):c.908C>T (p.Ser303Phe)
|
rs2124020665
|
|
|
NM_000202.8(IDS):c.908_909del (p.Ser303fs)
|
rs193302913
|
|
|
NM_000202.8(IDS):c.909T>C (p.Ser303=)
|
|
|
|
NM_000202.8(IDS):c.913T>C (p.Ser305Pro)
|
rs2124020632
|
|
|
NM_000202.8(IDS):c.922G>C (p.Asp308His)
|
rs2124020573
|
|
|
NM_000202.8(IDS):c.923A>G (p.Asp308Gly)
|
rs2124020552
|
|
|
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)
|
|
|
|
NM_000202.8(IDS):c.931G>C (p.Val311Leu)
|
|
|
|
NM_000202.8(IDS):c.931G>T (p.Val311Phe)
|
|
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
|
NM_000202.8(IDS):c.935G>A (p.Gly312Asp)
|
rs193302912
|
|
|
NM_000202.8(IDS):c.954G>A (p.Leu318=)
|
rs2124020303
|
|
|
NM_000202.8(IDS):c.955del (p.Asp319fs)
|
rs2124020278
|
|
|
NM_000202.8(IDS):c.957C>A (p.Asp319Glu)
|
rs782488487
|
|
|
NM_000202.8(IDS):c.958G>A (p.Asp320Asn)
|
rs2089379111
|
|
|
NM_000202.8(IDS):c.966G>A (p.Gln322=)
|
rs2124020165
|
|
|
NM_000202.8(IDS):c.967C>T (p.Leu323=)
|
rs2124020149
|
|
|
NM_000202.8(IDS):c.970G>A (p.Ala324Thr)
|
|
|
|
NM_000202.8(IDS):c.974A>G (p.Asn325Ser)
|
|
|
|
NM_000202.8(IDS):c.978C>T (p.Ser326=)
|
|
|
|
NM_000202.8(IDS):c.982_996del (p.Ile328_Thr332del)
|
rs2124020031
|
|
|
NM_000202.8(IDS):c.984del (p.Ile329fs)
|
rs1602734459
|
|
|
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
|
|
|
|
NM_000202.8(IDS):c.995C>T (p.Thr332Ile)
|
|
|
|
NM_000202.8(IDS):c.998C>A (p.Ser333Ter)
|
rs104894853
|
|
|
NM_000202.8(IDS):c.998C>G (p.Ser333Trp)
|
rs104894853
|
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
|
NM_000202.8(IDS):c.[1411G>C;1418C>T]
|
|
|
|
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
|
|
|
|
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)
|
rs387906504
|
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
|
NM_000203.5(IDUA):c.*100A>G
|
rs1049376214
|
|
|
NM_000203.5(IDUA):c.-14_10del (p.Met1_Leu4del)
|
|
|
|
NM_000203.5(IDUA):c.-23_18del (p.Met1fs)
|
|
|
|
NM_000203.5(IDUA):c.-2C>T
|
rs1472246458
|
|
|
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
|
|
|
|
NM_000203.5(IDUA):c.1011C>T (p.Thr337=)
|
rs142464969
|
|
|
NM_000203.5(IDUA):c.1014C>G (p.Thr338=)
|
|
|
|
NM_000203.5(IDUA):c.1014C>T (p.Thr338=)
|
rs1300855516
|
|
|
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
|
|
|
|
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
|
|
|
|
NM_000203.5(IDUA):c.1017C>T (p.Ser339=)
|
|
|
|
NM_000203.5(IDUA):c.1020C>T (p.Ala340=)
|
|
|
|
NM_000203.5(IDUA):c.1023C>T (p.Phe341=)
|
|
|
|
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
|
|
|
|
NM_000203.5(IDUA):c.1026C>A (p.Pro342=)
|
|
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
|
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)
|
rs764196171
|
|
|
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=)
|
rs764196171
|
|
|
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
|
rs754095810
|
|
|
NM_000203.5(IDUA):c.1032G>C (p.Ala344=)
|
|
|
|
NM_000203.5(IDUA):c.1032G>T (p.Ala344=)
|
|
|
|
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
|
|
|
|
NM_000203.5(IDUA):c.1035C>T (p.Leu345=)
|
|
|
|
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer)
|
rs2153022341
|
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
|
NM_000203.5(IDUA):c.1038G>C (p.Leu346=)
|
rs758334375
|
|
|
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
|
rs2153022349
|
|
|
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn)
|
rs886059750
|
|
|
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr)
|
rs780106243
|
|
|
NM_000203.5(IDUA):c.1041C>T (p.Ser347=)
|
rs2153022353
|
|
|
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
|
|
|
|
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)
|
rs746766617
|
|
|
NM_000203.5(IDUA):c.1044C>T (p.Asn348=)
|
rs746766617
|
|
|
NM_000203.5(IDUA):c.1045G>C (p.Asp349His)
|
|
|
|
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr)
|
rs368454909
|
|
|
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)
|
rs1230096882
|
|
|
NM_000203.5(IDUA):c.1047dup (p.Asn350fs)
|
rs2153022358
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
|
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)
|
rs1577541140
|
|
|
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
|
rs1715142270
|
|
|
NM_000203.5(IDUA):c.1053C>G (p.Ala351=)
|
rs762621113
|
|
|
NM_000203.5(IDUA):c.1059G>A (p.Leu353=)
|
rs2153022362
|
|
|
NM_000203.5(IDUA):c.1062C>T (p.Ser354=)
|
|
|
|
NM_000203.5(IDUA):c.1068C>T (p.His356=)
|
rs1577541175
|
|
|
NM_000203.5(IDUA):c.1071G>A (p.Pro357=)
|
|
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
|
NM_000203.5(IDUA):c.1077C>A (p.Pro359=)
|
|
|
|
NM_000203.5(IDUA):c.1077C>G (p.Pro359=)
|
|
|
|
NM_000203.5(IDUA):c.1077C>T (p.Pro359=)
|
rs374666235
|
|
|
NM_000203.5(IDUA):c.1077del (p.Phe360fs)
|
rs2153022377
|
|
|
NM_000203.5(IDUA):c.1080C>T (p.Phe360=)
|
|
|
|
NM_000203.5(IDUA):c.1083G>A (p.Ala361=)
|
rs1553917295
|
|
|
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
|
|
|
|
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs)
|
rs2153022390
|
|
|
NM_000203.5(IDUA):c.108G>C (p.Ala36=)
|
|
|
|
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala)
|
rs1216054018
|
|
|
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
|
|
|
|
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
|
|
|
|
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)
|
rs121965032
|
|
|
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)
|
rs121965024
|
|
|
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
|
rs2153022399
|
|
|
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
|
|
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
|
|
|
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
|
rs1208743786
|
|
|
NM_000203.5(IDUA):c.1104C>T (p.Arg368=)
|
rs747739718
|
|
|
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
|
rs1715147247
|
|
|
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
|
rs2153022415
|
|
|
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
|
|
|
|
NM_000203.5(IDUA):c.1110G>A (p.Gln370=)
|
|
|
|
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
|
rs777631094
|
|
|
NM_000203.5(IDUA):c.1113C>T (p.Val371=)
|
|
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
|
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
|
rs1715148258
|
|
|
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
|
|
|
|
NM_000203.5(IDUA):c.1122C>T (p.Thr374=)
|
|
|
|
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
|
|
|
|
NM_000203.5(IDUA):c.1125C>T (p.Arg375=)
|
|
|
|
NM_000203.5(IDUA):c.1131G>A (p.Pro377=)
|
rs1715149905
|
|
|
NM_000203.5(IDUA):c.1131G>T (p.Pro377=)
|
|
|
|
NM_000203.5(IDUA):c.1137_1138dup (p.Gln380fs)
|
|
|
|
NM_000203.5(IDUA):c.1140G>T (p.Gln380His)
|
|
|
|
NM_000203.5(IDUA):c.1141C>T (p.Leu381=)
|
|
|
|
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
|
|
|
|
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
|
|
|
|
NM_000203.5(IDUA):c.1149C>G (p.Arg383=)
|
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
|
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn)
|
rs1244370377
|
|
|
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
|
|
|
|
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)
|
rs1553917310
|
|
|
NM_000203.5(IDUA):c.1161C>T (p.Leu387=)
|
rs1553917312
|
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
|
NM_000203.5(IDUA):c.1163del (p.Thr388fs)
|
rs1577541504
|
|
|
NM_000203.5(IDUA):c.1164G>A (p.Thr388=)
|
rs6836258
|
|
|
NM_000203.5(IDUA):c.1164G>T (p.Thr388=)
|
rs6836258
|
|
|
NM_000203.5(IDUA):c.1167C>T (p.Ala389=)
|
rs1715153431
|
|
|
NM_000203.5(IDUA):c.1167del (p.Met390fs)
|
rs2153022443
|
|
|
NM_000203.5(IDUA):c.1173G>T (p.Gly391=)
|
|
|
|
NM_000203.5(IDUA):c.1182G>C (p.Ala394=)
|
|
|
|
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
|
|
|
|
NM_000203.5(IDUA):c.1188G>A (p.Leu396=)
|
rs747406598
|
|
|
NM_000203.5(IDUA):c.1189+10G>A
|
|
|
|
NM_000203.5(IDUA):c.1189+13C>A
|
|
|
|
NM_000203.5(IDUA):c.1189+13del
|
|
|
|
NM_000203.5(IDUA):c.1189+14G>A
|
|
|
|
NM_000203.5(IDUA):c.1189+16T>C
|
|
|
|
NM_000203.5(IDUA):c.1189+17G>A
|
|
|
|
NM_000203.5(IDUA):c.1189+19G>T
|
|
|
|
NM_000203.5(IDUA):c.1189+5G>A
|
rs1553917318
|
|
|
NM_000203.5(IDUA):c.1189+8G>A
|
|
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
|
NM_000203.5(IDUA):c.1190-10C>G
|
rs1443642527
|
|
|
NM_000203.5(IDUA):c.1190-10_*10del
|
|
|
|
NM_000203.5(IDUA):c.1190-10del
|
rs150523349
|
|
|
NM_000203.5(IDUA):c.1190-10dup
|
rs150523349
|
|
|
NM_000203.5(IDUA):c.1190-11C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-11C>G
|
|
|
|
NM_000203.5(IDUA):c.1190-11C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10dup
|
rs150523349
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insG
|
|
|
|
NM_000203.5(IDUA):c.1190-11_1190-10insT
|
|
|
|
NM_000203.5(IDUA):c.1190-12C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-12C>G
|
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insA
|
|
|
|
NM_000203.5(IDUA):c.1190-12_1190-11insG
|
|
|
|
NM_000203.5(IDUA):c.1190-13C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-13C>G
|
|
|
|
NM_000203.5(IDUA):c.1190-13C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-14C>G
|
|
|
|
NM_000203.5(IDUA):c.1190-14C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-14_1190-13insT
|
|
|
|
NM_000203.5(IDUA):c.1190-15C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-16C>G
|
|
|
|
NM_000203.5(IDUA):c.1190-17C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-17C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-18C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-18C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-19G>A
|
|
|
|
NM_000203.5(IDUA):c.1190-1del
|
|
|
|
NM_000203.5(IDUA):c.1190-20G>A
|
|
|
|
NM_000203.5(IDUA):c.1190-20G>T
|
|
|
|
NM_000203.5(IDUA):c.1190-4G>A
|
rs763252022
|
|
|
NM_000203.5(IDUA):c.1190-8C>A
|
|
|
|
NM_000203.5(IDUA):c.1190-8C>T
|
|
|
|
NM_000203.5(IDUA):c.1190-9G>A
|
|
|
|
NM_000203.5(IDUA):c.1191T>C (p.Asp397=)
|
|
|
|
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
|
|
|
|
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)
|
rs991612107
|
|
|
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
|
rs1715176840
|
|
|
NM_000203.5(IDUA):c.1209C>T (p.Ala403=)
|
rs990733414
|
|
|
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)
|
rs1340421020
|
|
|
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
|
|
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
|
NM_000203.5(IDUA):c.1215G>T (p.Val405=)
|
|
|
|
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
|
rs917822878
|
|
|
NM_000203.5(IDUA):c.1218G>T (p.Ser406=)
|
rs917822878
|
|
|
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
|
rs1715178056
|
|
|
NM_000203.5(IDUA):c.1224C>G (p.Ala408=)
|
|
|
|
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)
|
rs11934801
|
|
|
NM_000203.5(IDUA):c.1227G>A (p.Gly409=)
|
rs2153022577
|
|
|
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
|
rs1715179164
|
|
|
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
|
|
|
|
NM_000203.5(IDUA):c.1230C>A (p.Thr410=)
|
rs115790973
|
|
|
NM_000203.5(IDUA):c.1230C>G (p.Thr410=)
|
rs115790973
|
|
|
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
|
rs115790973
|
|
|
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del)
|
rs1553917376
|
|
|
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
|
rs2153022592
|
|
|
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del)
|
rs1168660379
|
|
|
NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)
|
|
|
|
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
|
|
|
|
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)
|
rs1450080299
|
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
|
NM_000203.5(IDUA):c.1251G>C (p.Thr417=)
|
|
|
|
NM_000203.5(IDUA):c.1257C>G (p.Gly419=)
|
rs1256676778
|
|
|
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
|
|
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
|
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
|
rs931627770
|
|
|
NM_000203.5(IDUA):c.1271C>T (p.Ala424Val)
|
|
|
|
NM_000203.5(IDUA):c.1272C>T (p.Ala424=)
|
|
|
|
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)
|
rs1445719596
|
|
|
NM_000203.5(IDUA):c.1278C>A (p.Arg426=)
|
|
|
|
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
|
rs2153015240
|
|
|
NM_000203.5(IDUA):c.1281C>A (p.Pro427=)
|
rs2153022616
|
|
|
NM_000203.5(IDUA):c.1281C>T (p.Pro427=)
|
rs2153022616
|
|
|
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
|
|
|
|
NM_000203.5(IDUA):c.1287C>G (p.Gly429=)
|
rs2153022621
|
|
|
NM_000203.5(IDUA):c.1290G>C (p.Pro430=)
|
|
|
|
NM_000203.5(IDUA):c.1293C>A (p.Ala431=)
|
rs559676638
|
|
|
NM_000203.5(IDUA):c.1293C>G (p.Ala431=)
|
rs559676638
|
|
|
NM_000203.5(IDUA):c.1296C>T (p.Asp432=)
|
rs2153022623
|
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
|
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
|
|
|
|
NM_000203.5(IDUA):c.1305C>A (p.Arg435=)
|
rs1577542420
|
|
|
NM_000203.5(IDUA):c.1306del (p.Ala436fs)
|
|
|
|
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro)
|
|
|
|
NM_000203.5(IDUA):c.130C>A (p.Arg44=)
|
rs558851990
|
|
|
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
|
|
|
|
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
|
|
|
|
NM_000203.5(IDUA):c.1323C>T (p.Tyr441=)
|
rs1463087550
|
|
|
NM_000203.5(IDUA):c.1326G>A (p.Ala442=)
|
rs1374287949
|
|
|
NM_000203.5(IDUA):c.1326G>T (p.Ala442=)
|
|
|
|
NM_000203.5(IDUA):c.1326_1330dup (p.Asp444fs)
|
|
|
|
NM_000203.5(IDUA):c.1329C>T (p.Ser443=)
|
|
|
|
NM_000203.5(IDUA):c.132G>A (p.Arg44=)
|
rs2153015245
|
|
|
NM_000203.5(IDUA):c.132del (p.Arg45fs)
|
rs2153015244
|
|
|
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
|
|
|
|
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
|
rs1715188461
|
|
|
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
|
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
|
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
|
|
|
|
NM_000203.5(IDUA):c.1338C>G (p.Thr446=)
|
rs2153022644
|
|
|
NM_000203.5(IDUA):c.1338C>T (p.Thr446=)
|
|
|
|
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
|
|
|
|
NM_000203.5(IDUA):c.1344C>G (p.Ala448=)
|
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
|
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro)
|
rs1448806369
|
|
|
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn)
|
rs2153022656
|
|
|
NM_000203.5(IDUA):c.1359C>T (p.Ser453=)
|
|
|
|
NM_000203.5(IDUA):c.135C>T (p.Arg45=)
|
|
|
|
NM_000203.5(IDUA):c.1362C>A (p.Val454=)
|
rs1394012754
|
|
|
NM_000203.5(IDUA):c.1362C>G (p.Val454=)
|
rs1394012754
|
|
|
NM_000203.5(IDUA):c.1365G>A (p.Ala455=)
|
|
|
|
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)
|
rs1553917418
|
|
|
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
|
rs1715192601
|
|
|
NM_000203.5(IDUA):c.1368G>A (p.Val456=)
|
rs1175142973
|
|
|
NM_000203.5(IDUA):c.1371C>A (p.Thr457=)
|
|
|
|
NM_000203.5(IDUA):c.1371C>T (p.Thr457=)
|
rs1468338796
|
|
|
NM_000203.5(IDUA):c.1375C>T (p.Arg459Trp)
|
rs2153022668
|
|
|
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu)
|
rs1715193201
|
|
|
NM_000203.5(IDUA):c.1377G>A (p.Arg459=)
|
|
|
|
NM_000203.5(IDUA):c.1380G>A (p.Leu460=)
|
rs978001242
|
|
|
NM_000203.5(IDUA):c.1386G>A (p.Gly462=)
|
rs2153022680
|
|
|
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu)
|
|
|
|
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala)
|
rs888528622
|
|
|
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
|
|
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
|
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
|
rs1386109118
|
|
|
NM_000203.5(IDUA):c.1402+11G>A
|
rs2153022703
|
|
|
NM_000203.5(IDUA):c.1402+11_1402+13del
|
|
|
|
NM_000203.5(IDUA):c.1402+18G>A
|
|
|
|
NM_000203.5(IDUA):c.1402+19G>C
|
|
|
|
NM_000203.5(IDUA):c.1402+1G>A
|
rs398123254
|
|
|
NM_000203.5(IDUA):c.1402+20A>C
|
|
|
|
NM_000203.5(IDUA):c.1402+2T>G
|
rs1553917428
|
|
|
NM_000203.5(IDUA):c.1402+5G>A
|
|
|
|
NM_000203.5(IDUA):c.1402+7C>T
|
rs2153022699
|
|
|
NM_000203.5(IDUA):c.1402+8G>C
|
|
|
|
NM_000203.5(IDUA):c.1403-18G>A
|
|
|
|
NM_000203.5(IDUA):c.1403-1G>A
|
|
|
|
NM_000203.5(IDUA):c.1403-20C>T
|
|
|
|
NM_000203.5(IDUA):c.1403-5C>G
|
rs930815881
|
|
|
NM_000203.5(IDUA):c.1403-7C>T
|
|
|
|
NM_000203.5(IDUA):c.1403-9G>T
|
|
|
|
NM_000203.5(IDUA):c.1404C>G (p.Gly468=)
|
|
|
|
NM_000203.5(IDUA):c.1407G>T (p.Leu469=)
|
|
|
|
NM_000203.5(IDUA):c.1413C>T (p.Tyr471=)
|
rs753138197
|
|
|
NM_000203.5(IDUA):c.1416C>A (p.Val472=)
|
|
|
|
NM_000203.5(IDUA):c.1416C>T (p.Val472=)
|
rs1715205390
|
|
|
NM_000203.5(IDUA):c.1419G>A (p.Thr473=)
|
rs1715205662
|
|
|
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
|
rs1713799895
|
|
|
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del)
|
rs1713799705
|
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
|
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly)
|
rs2153015259
|
|
|
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
|
|
|
|
NM_000203.5(IDUA):c.1437G>A (p.Gly479=)
|
rs2153022756
|
|
|
NM_000203.5(IDUA):c.1437G>C (p.Gly479=)
|
|
|
|
NM_000203.5(IDUA):c.1437G>T (p.Gly479=)
|
rs2153022756
|
|
|
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
|
|
|
|
NM_000203.5(IDUA):c.1440C>G (p.Leu480=)
|
rs760901993
|
|
|
NM_000203.5(IDUA):c.1440C>T (p.Leu480=)
|
rs760901993
|
|
|
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr)
|
|
|
|
NM_000203.5(IDUA):c.1449C>A (p.Pro483=)
|
rs761637332
|
|
|
NM_000203.5(IDUA):c.1449C>G (p.Pro483=)
|
rs761637332
|
|
|
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
|
rs761637332
|
|
|
NM_000203.5(IDUA):c.1452C>T (p.Asp484=)
|
rs4690224
|
|
|
NM_000203.5(IDUA):c.1455C>G (p.Gly485=)
|
|
|
|
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter)
|
rs1356329915
|
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
|
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
|
rs1715210435
|
|
|
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
|
rs868460406
|
|
|
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro)
|
rs1416328981
|
|
|
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
|
rs115929690
|
|
|
NM_000203.5(IDUA):c.1468C>T (p.Leu490=)
|
|
|
|
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)
|
rs121965027
|
|
|
NM_000203.5(IDUA):c.1470G>A (p.Leu490=)
|
rs1715211623
|
|
|
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp)
|
rs778314567
|
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
|
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
|
|
|
|
NM_000203.5(IDUA):c.1476G>C (p.Arg492=)
|
rs2153022780
|
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
|
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
|
|
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
|
NM_000203.5(IDUA):c.1479C>G (p.Pro493=)
|
rs370394527
|
|
|
NM_000203.5(IDUA):c.147C>T (p.Ser49=)
|
rs2153015263
|
|
|
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
|
|
|
|
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
|
|
|
|
NM_000203.5(IDUA):c.1485C>T (p.Phe495=)
|
rs746018077
|
|
|
NM_000203.5(IDUA):c.1488C>T (p.Pro496=)
|
rs780479570
|
|
|
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala)
|
|
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1491G>C (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1491G>T (p.Thr497=)
|
rs374102243
|
|
|
NM_000203.5(IDUA):c.1494A>G (p.Ala498=)
|
|
|
|
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)
|
rs2153022799
|
|
|
NM_000203.5(IDUA):c.1497G>A (p.Glu499=)
|
|
|
|
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
|
|
|
|
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter)
|
rs1290558249
|
|
|
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
|
|
|
|
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
|
|
|
|
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln)
|
rs769566506
|
|
|
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
|
|
|
|
NM_000203.5(IDUA):c.1509C>T (p.Arg503=)
|
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
|
|
|
NM_000203.5(IDUA):c.150A>G (p.Thr50=)
|
rs2153015268
|
|
|
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly)
|
rs1715218377
|
|
|
NM_000203.5(IDUA):c.1515C>G (p.Arg505=)
|
|
|
|
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
|
rs772988328
|
|
|
NM_000203.5(IDUA):c.1521T>C (p.Ala507=)
|
|
|
|
NM_000203.5(IDUA):c.1524+11C>G
|
|
|
|
NM_000203.5(IDUA):c.1524+11C>T
|
|
|
|
NM_000203.5(IDUA):c.1524+12G>A
|
|
|
|
NM_000203.5(IDUA):c.1524+13C>A
|
|
|
|
NM_000203.5(IDUA):c.1524+14G>C
|
|
|
|
NM_000203.5(IDUA):c.1524+15G>A
|
|
|
|
NM_000203.5(IDUA):c.1524+15G>T
|
|
|
|
NM_000203.5(IDUA):c.1524+16A>T
|
|
|
|
NM_000203.5(IDUA):c.1524+17G>A
|
|
|
|
NM_000203.5(IDUA):c.1524+18G>C
|
|
|
|
NM_000203.5(IDUA):c.1524+19G>A
|
|
|
|
NM_000203.5(IDUA):c.1524+1G>T
|
rs1553917483
|
|
|
NM_000203.5(IDUA):c.1524+20G>C
|
|
|
|
NM_000203.5(IDUA):c.1525-11_1536del
|
rs1715233169
|
|
|
NM_000203.5(IDUA):c.1525-13C>A
|
|
|
|
NM_000203.5(IDUA):c.1525-15G>T
|
|
|
|
NM_000203.5(IDUA):c.1525-16C>G
|
rs941426443
|
|
|
NM_000203.5(IDUA):c.1525-16C>T
|
|
|
|
NM_000203.5(IDUA):c.1525-16del
|
|
|
|
NM_000203.5(IDUA):c.1525-17C>G
|
|
|
|
NM_000203.5(IDUA):c.1525-17C>T
|
|
|
|
NM_000203.5(IDUA):c.1525-1G>A
|
|
|
|
NM_000203.5(IDUA):c.1525-20G>A
|
|
|
|
NM_000203.5(IDUA):c.1525-2A>C
|
rs2153022881
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
|
NM_000203.5(IDUA):c.1525-4C>G
|
rs1715234723
|
|
|
NM_000203.5(IDUA):c.1525-5C>T
|
rs2153022876
|
|
|
NM_000203.5(IDUA):c.1525-6G>C
|
rs1560549741
|
|
|
NM_000203.5(IDUA):c.1525-6G>T
|
rs1560549741
|
|
|
NM_000203.5(IDUA):c.1529dup (p.Val511fs)
|
|
|
|
NM_000203.5(IDUA):c.1530G>A (p.Pro510=)
|
|
|
|
NM_000203.5(IDUA):c.1530G>T (p.Pro510=)
|
|
|
|
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu)
|
|
|
|
NM_000203.5(IDUA):c.1539G>C (p.Ala513=)
|
rs1715236417
|
|
|
NM_000203.5(IDUA):c.1539G>T (p.Ala513=)
|
|
|
|
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
|
|
|
|
NM_000203.5(IDUA):c.1546dup (p.Arg516fs)
|
rs2153022895
|
|
|
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
|
|
|
|
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
|
|
|
|
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu)
|
rs1051249739
|
|
|
NM_000203.5(IDUA):c.1551C>G (p.Pro517=)
|
rs892707514
|
|
|
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
|
|
|
|
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
|
|
|
|
NM_000203.5(IDUA):c.1560C>G (p.Ala520=)
|
|
|
|
NM_000203.5(IDUA):c.1560C>T (p.Ala520=)
|
|
|
|
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
|
|
|
|
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
|
rs1715237631
|
|
|
NM_000203.5(IDUA):c.1563C>G (p.Gly521=)
|
|
|
|
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
|
|
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
|
NM_000203.5(IDUA):c.1576C>T (p.Leu526=)
|
|
|
|
NM_000203.5(IDUA):c.158+11C>T
|
|
|
|
NM_000203.5(IDUA):c.158+12G>A
|
|
|
|
NM_000203.5(IDUA):c.158+13C>T
|
|
|
|
NM_000203.5(IDUA):c.158+16C>G
|
|
|
|
NM_000203.5(IDUA):c.158+16C>T
|
|
|
|
NM_000203.5(IDUA):c.158+18T>C
|
|
|
|
NM_000203.5(IDUA):c.158+7G>T
|
rs1488477352
|
|
|
NM_000203.5(IDUA):c.158+9T>C
|
|
|
|
NM_000203.5(IDUA):c.1584C>G (p.Pro528=)
|
|
|
|
NM_000203.5(IDUA):c.1584C>T (p.Pro528=)
|
rs1553917553
|
|
|
NM_000203.5(IDUA):c.1587G>C (p.Ala529=)
|
|
|
|
NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs)
|
|
|
|
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
|
rs749053703
|
|
|
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
|
rs749053703
|
|
|
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
|
|
|
|
NM_000203.5(IDUA):c.159-17C>T
|
|
|
|
NM_000203.5(IDUA):c.159-18C>T
|
|
|
|
NM_000203.5(IDUA):c.159-19_160del
|
rs398123255
|
|
|
NM_000203.5(IDUA):c.159-1G>A
|
rs1553914935
|
|
|
NM_000203.5(IDUA):c.159-20C>A
|
|
|
|
NM_000203.5(IDUA):c.159-20C>T
|
|
|
|
NM_000203.5(IDUA):c.159-2A>C
|
rs2153015588
|
|
|
NM_000203.5(IDUA):c.159-2A>G
|
rs2153015588
|
|
|
NM_000203.5(IDUA):c.159-9T>C
|
|
|
|
NM_000203.5(IDUA):c.1591C>A (p.Arg531=)
|
|
|
|
NM_000203.5(IDUA):c.1591del (p.Arg531fs)
|
rs1553917558
|
|
|
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
|
|
|
|
NM_000203.5(IDUA):c.1593G>A (p.Arg531=)
|
|
|
|
NM_000203.5(IDUA):c.1594C>T (p.Leu532=)
|
|
|
|
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
|
rs2153022921
|
|
|
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr)
|
rs374779600
|
|
|
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
|
|
|
|
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
|
|
|
|
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu)
|
rs121965021
|
|
|
NM_000203.5(IDUA):c.1599G>T (p.Pro533=)
|
|
|
|
NM_000203.5(IDUA):c.159C>A (p.Cys53Ter)
|
rs758190824
|
|
|
NM_000203.5(IDUA):c.15C>A (p.Arg5=)
|
|
|
|
NM_000203.5(IDUA):c.15C>G (p.Arg5=)
|
|
|
|
NM_000203.5(IDUA):c.15C>T (p.Arg5=)
|
rs750154430
|
|
|
NM_000203.5(IDUA):c.1602del (p.Leu535fs)
|
rs1553917566
|
|
|
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)
|
rs1577543849
|
|
|
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
|
rs916118864
|
|
|
NM_000203.5(IDUA):c.1614G>A (p.Val538=)
|
|
|
|
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu)
|
rs2153015595
|
|
|
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter)
|
rs2153022938
|
|
|
NM_000203.5(IDUA):c.1623T>C (p.Cys541=)
|
|
|
|
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser)
|
|
|
|
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
|
|
|
|
NM_000203.5(IDUA):c.162C>T (p.Pro54=)
|
rs1378930636
|
|
|
NM_000203.5(IDUA):c.1641G>A (p.Pro547=)
|
rs751005613
|
|
|
NM_000203.5(IDUA):c.1641G>C (p.Pro547=)
|
|
|
|
NM_000203.5(IDUA):c.1641G>T (p.Pro547=)
|
rs751005613
|
|
|
NM_000203.5(IDUA):c.1644C>G (p.Pro548=)
|
|
|
|
NM_000203.5(IDUA):c.1644C>T (p.Pro548=)
|
|
|
|
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
|
|
|
|
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
|
|
|
|
NM_000203.5(IDUA):c.1647G>A (p.Gly549=)
|
rs2153022957
|
|
|
NM_000203.5(IDUA):c.1647G>C (p.Gly549=)
|
|
|
|
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter)
|
rs2153022958
|
|
|
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
|
rs727503966
|
|
|
NM_000203.5(IDUA):c.1650+10A>T
|
|
|
|
NM_000203.5(IDUA):c.1650+12T>A
|
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
|
NM_000203.5(IDUA):c.1650+12T>G
|
|
|
|
NM_000203.5(IDUA):c.1650+13C>A
|
|
|
|
NM_000203.5(IDUA):c.1650+13C>T
|
|
|
|
NM_000203.5(IDUA):c.1650+14C>T
|
|
|
|
NM_000203.5(IDUA):c.1650+16C>T
|
|
|
|
NM_000203.5(IDUA):c.1650+1G>A
|
rs1434521185
|
|
|
NM_000203.5(IDUA):c.1650+2C>G
|
rs1553917580
|
|
|
NM_000203.5(IDUA):c.1650+5G>A
|
rs398123256
|
|
|
NM_000203.5(IDUA):c.1650+8G>A
|
rs1303834044
|
|
|
NM_000203.5(IDUA):c.1650+9C>T
|
rs1715247936
|
|
|
NM_000203.5(IDUA):c.1650+9_1650+10insT
|
|
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
|
NM_000203.5(IDUA):c.1651-11C>A
|
|
|
|
NM_000203.5(IDUA):c.1651-11C>G
|
|
|
|
NM_000203.5(IDUA):c.1651-14C>T
|
|
|
|
NM_000203.5(IDUA):c.1651-15C>A
|
|
|
|
NM_000203.5(IDUA):c.1651-15C>T
|
|
|
|
NM_000203.5(IDUA):c.1651-2A>G
|
rs2153022990
|
|
|
NM_000203.5(IDUA):c.1651-4C>G
|
rs1715254489
|
|
|
NM_000203.5(IDUA):c.1651-5C>T
|
|
|
|
NM_000203.5(IDUA):c.1651-6C>G
|
|
|
|
NM_000203.5(IDUA):c.1651-6C>T
|
rs1268730017
|
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
|
NM_000203.5(IDUA):c.1651-7C>T
|
rs934115207
|
|
|
NM_000203.5(IDUA):c.1651-9C>T
|
rs2153022985
|
|
|
NM_000203.5(IDUA):c.1651-9del
|
|
|
|
NM_000203.5(IDUA):c.1651-9dup
|
|
|
|
NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)
|
|
|
|
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
|
|
|
|
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
|
rs1316670340
|
|
|
NM_000203.5(IDUA):c.1662C>A (p.Leu554=)
|
rs1051037909
|
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
|
|
|
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
|
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
|
NM_000203.5(IDUA):c.1669C>T (p.Leu557=)
|
|
|
|
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln)
|
rs2153023010
|
|
|
NM_000203.5(IDUA):c.1674C>T (p.Pro558=)
|
rs767943753
|
|
|
NM_000203.5(IDUA):c.1675C>T (p.Leu559=)
|
rs1715257303
|
|
|
NM_000203.5(IDUA):c.1677G>C (p.Leu559=)
|
|
|
|
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
|
rs773249605
|
|
|
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile)
|
|
|
|
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro)
|
rs2153015609
|
|
|
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
|
rs752800292
|
|
|
NM_000203.5(IDUA):c.1683A>G (p.Gln561=)
|
|
|
|
NM_000203.5(IDUA):c.1686G>A (p.Gly562=)
|
|
|
|
NM_000203.5(IDUA):c.1686G>C (p.Gly562=)
|
rs2153023022
|
|
|
NM_000203.5(IDUA):c.1689G>A (p.Gln563=)
|
rs1577544315
|
|
|
NM_000203.5(IDUA):c.1690C>T (p.Leu564=)
|
|
|
|
NM_000203.5(IDUA):c.1692G>A (p.Leu564=)
|
rs749848297
|
|
|
NM_000203.5(IDUA):c.1692G>C (p.Leu564=)
|
rs749848297
|
|
|
NM_000203.5(IDUA):c.1692G>T (p.Leu564=)
|
|
|
|
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala)
|
|
|
|
NM_000203.5(IDUA):c.1695T>C (p.Val565=)
|
rs1577544372
|
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
|
NM_000203.5(IDUA):c.1696C>T (p.Leu566=)
|
rs2153023029
|
|
|
NM_000203.5(IDUA):c.1707G>A (p.Ser569=)
|
|
|
|
NM_000203.5(IDUA):c.1707G>T (p.Ser569=)
|
|
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
|
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
|
|
|
|
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
|
|
|
|
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer)
|
rs1577508778
|
|
|
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
|
|
|
|
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
|
rs1307428521
|
|
|
NM_000203.5(IDUA):c.1723_1727+4del
|
|
|
|
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
|
|
|
|
NM_000203.5(IDUA):c.1727+13G>A
|
|
|
|
NM_000203.5(IDUA):c.1727+14G>C
|
|
|
|
NM_000203.5(IDUA):c.1727+17G>A
|
|
|
|
NM_000203.5(IDUA):c.1727+17G>T
|
|
|
|
NM_000203.5(IDUA):c.1727+18C>T
|
|
|
|
NM_000203.5(IDUA):c.1727+19_1727+21del
|
|
|
|
NM_000203.5(IDUA):c.1727+1G>A
|
rs1577544451
|
|
|
NM_000203.5(IDUA):c.1727+21del
|
|
|
|
NM_000203.5(IDUA):c.1727+6T>A
|
|
|
|
NM_000203.5(IDUA):c.1727+7G>A
|
rs1167057119
|
|
|
NM_000203.5(IDUA):c.1727+9G>A
|
rs771420258
|
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
|
NM_000203.5(IDUA):c.1728-18T>C
|
|
|
|
NM_000203.5(IDUA):c.1728-1G>A
|
rs1249951282
|
|
|
NM_000203.5(IDUA):c.1728-2A>G
|
rs1553917699
|
|
|
NM_000203.5(IDUA):c.1728-3C>G
|
|
|
|
NM_000203.5(IDUA):c.1728-3dup
|
rs2153023160
|
|
|
NM_000203.5(IDUA):c.1728-4C>A
|
rs775914231
|
|
|
NM_000203.5(IDUA):c.1728-4_1728-3del
|
rs2153023160
|
|
|
NM_000203.5(IDUA):c.1728-8C>T
|
rs2153023159
|
|
|
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)
|
|
|
|
NM_000203.5(IDUA):c.1740A>T (p.Thr580=)
|
rs1577545150
|
|
|
NM_000203.5(IDUA):c.1743C>T (p.Tyr581=)
|
rs776787370
|
|
|
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
|
rs1715290919
|
|
|
NM_000203.5(IDUA):c.1758T>C (p.Ser586=)
|
rs766308077
|
|
|
NM_000203.5(IDUA):c.175del (p.Ser59fs)
|
|
|
|
NM_000203.5(IDUA):c.1761G>A (p.Gln587=)
|
rs1715292284
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
|
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
|
rs1715293163
|
|
|
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
|
rs2153023181
|
|
|
NM_000203.5(IDUA):c.1773G>T (p.Ala591=)
|
rs148894462
|
|
|
NM_000203.5(IDUA):c.1779C>A (p.Thr593=)
|
rs2153023191
|
|
|
NM_000203.5(IDUA):c.1779C>T (p.Thr593=)
|
|
|
|
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)
|
rs781543137
|
|
|
NM_000203.5(IDUA):c.1782G>C (p.Pro594=)
|
|
|
|
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly)
|
|
|
|
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)
|
rs1577508801
|
|
|
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
|
rs867456178
|
|
|
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
|
|
|
|
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer)
|
rs398123258
|
|
|
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
|
|
|
|
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
|
|
|
|
NM_000203.5(IDUA):c.1809C>T (p.Asn603=)
|
rs2153023208
|
|
|
NM_000203.5(IDUA):c.1812C>G (p.Leu604=)
|
|
|
|
NM_000203.5(IDUA):c.1815dup (p.Val606fs)
|
rs2153023210
|
|
|
NM_000203.5(IDUA):c.1818G>A (p.Val606=)
|
rs1439543893
|
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
|
NM_000203.5(IDUA):c.1828+12A>C
|
|
|
|
NM_000203.5(IDUA):c.1828+14C>T
|
|
|
|
NM_000203.5(IDUA):c.1828+15C>T
|
|
|
|
NM_000203.5(IDUA):c.1828+15dup
|
|
|
|
NM_000203.5(IDUA):c.1828+20C>T
|
|
|
|
NM_000203.5(IDUA):c.1828+4C>T
|
|
|
|
NM_000203.5(IDUA):c.1828+8C>A
|
rs2153023217
|
|
|
NM_000203.5(IDUA):c.1829-12C>T
|
|
|
|
NM_000203.5(IDUA):c.1829-13C>A
|
rs756441262
|
|
|
NM_000203.5(IDUA):c.1829-13C>T
|
|
|
|
NM_000203.5(IDUA):c.1829-14C>A
|
|
|
|
NM_000203.5(IDUA):c.1829-15del
|
|
|
|
NM_000203.5(IDUA):c.1829-18A>C
|
|
|
|
NM_000203.5(IDUA):c.1829-18_1829-17del
|
|
|
|
NM_000203.5(IDUA):c.1829-1G>C
|
|
|
|
NM_000203.5(IDUA):c.1829-2A>G
|
rs1553917733
|
|
|
NM_000203.5(IDUA):c.1829-3C>T
|
|
|
|
NM_000203.5(IDUA):c.1829-4C>G
|
rs757535645
|
|
|
NM_000203.5(IDUA):c.1829-4C>T
|
rs757535645
|
|
|
NM_000203.5(IDUA):c.1829-6C>T
|
rs1400504829
|
|
|
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs)
|
rs1553917735
|
|
|
NM_000203.5(IDUA):c.1833A>C (p.Thr611=)
|
rs1296925054
|
|
|
NM_000203.5(IDUA):c.1836T>G (p.Gly612=)
|
rs1278005228
|
|
|
NM_000203.5(IDUA):c.1839T>C (p.Ala613=)
|
|
|
|
NM_000203.5(IDUA):c.183T>A (p.Ala61=)
|
|
|
|
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)
|
rs1553917737
|
|
|
NM_000203.5(IDUA):c.1848C>T (p.Gly616=)
|
rs2153023273
|
|
|
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)
|
rs746936485
|
|
|
NM_000203.5(IDUA):c.1854C>T (p.Tyr618=)
|
|
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
|
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)
|
rs372137794
|
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
|
|
|
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
|
rs762399936
|
|
|
NM_000203.5(IDUA):c.1866C>T (p.Ala622=)
|
|
|
|
NM_000203.5(IDUA):c.1867C>T (p.Leu623=)
|
|
|
|
NM_000203.5(IDUA):c.1867del (p.Leu623fs)
|
rs1553917747
|
|
|
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)
|
rs2153023287
|
|
|
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)
|
rs1553917746
|
|
|
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
|
rs1715312209
|
|
|
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
|
|
|
|
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)
|
rs587779401
|
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
|
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
|
rs2153015621
|
|
|
NM_000203.5(IDUA):c.1881C>T (p.Ala627=)
|
|
|
|
NM_000203.5(IDUA):c.1882C>A (p.Arg628=)
|
|
|
|
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
|
|
|
|
NM_000203.5(IDUA):c.1884A>C (p.Arg628=)
|
|
|
|
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser)
|
rs1553917753
|
|
|
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp)
|
rs2153023301
|
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
|
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile)
|
rs2153023304
|
|
|
NM_000203.5(IDUA):c.1896C>T (p.Phe632=)
|
|
|
|
NM_000203.5(IDUA):c.1897del (p.Ser633fs)
|
rs1553917756
|
|
|
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
|
rs886043347
|
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
|
NM_000203.5(IDUA):c.18C>T (p.Pro6=)
|
rs1412821087
|
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
|
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg)
|
|
|
|
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)
|
rs768467230
|
|
|
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
|
rs768467230
|
|
|
NM_000203.5(IDUA):c.1915C>T (p.Leu639=)
|
|
|
|
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)
|
rs1553917764
|
|
|
NM_000203.5(IDUA):c.1923C>G (p.Val641=)
|
rs2153023320
|
|
|
NM_000203.5(IDUA):c.1923C>T (p.Val641=)
|
|
|
|
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
|
|
|
|
NM_000203.5(IDUA):c.1929G>C (p.Val643=)
|
|
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
|
NM_000203.5(IDUA):c.1932A>G (p.Pro644=)
|
|
|
|
NM_000203.5(IDUA):c.1936G>C (p.Gly646Arg)
|
|
|
|
NM_000203.5(IDUA):c.1938G>A (p.Gly646=)
|
|
|
|
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
|
|
|
|
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
|
|
|
|
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
|
|
|
|
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
|
|
|
|
NM_000203.5(IDUA):c.1947C>T (p.Ser649=)
|
|
|
|
NM_000203.5(IDUA):c.1950G>A (p.Pro650=)
|
|
|
|
NM_000203.5(IDUA):c.1950G>C (p.Pro650=)
|
|
|
|
NM_000203.5(IDUA):c.1950G>T (p.Pro650=)
|
rs112884255
|
|
|
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp)
|
rs750609855
|
|
|
NM_000203.5(IDUA):c.1953C>G (p.Gly651=)
|
rs2153023339
|
|
|
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
|
|
|
|
NM_000203.5(IDUA):c.1959A>T (p.Pro653=)
|
rs1264323702
|
|
|
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
|
rs387906504
|
|
|
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly)
|
rs370442463
|
|
|
NM_000203.5(IDUA):c.19dup (p.Arg7fs)
|
|
|
|
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)
|
rs1553914737
|
|
|
NM_000203.5(IDUA):c.1A>G (p.Met1Val)
|
rs1553914737
|
|
|
NM_000203.5(IDUA):c.203G>A (p.Trp68Ter)
|
|
|
|
NM_000203.5(IDUA):c.209del (p.Gln70fs)
|
rs2153015644
|
|
|
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
|
rs1240723907
|
|
|
NM_000203.5(IDUA):c.224C>T (p.Ala75Val)
|
rs1315260083
|
|
|
NM_000203.5(IDUA):c.225C>T (p.Ala75=)
|
|
|
|
NM_000203.5(IDUA):c.228T>C (p.Tyr76=)
|
rs2153015654
|
|
|
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
|
rs1441549249
|
|
|
NM_000203.5(IDUA):c.230T>C (p.Val77Ala)
|
rs1560532674
|
|
|
NM_000203.5(IDUA):c.236C>T (p.Ala79Val)
|
rs747981483
|
|
|
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
|
|
|
|
NM_000203.5(IDUA):c.242dup (p.His82fs)
|
rs1713866822
|
|
|
NM_000203.5(IDUA):c.246C>T (p.His82=)
|
rs148775298
|
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
|
|
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
|
rs765563471
|
|
|
NM_000203.5(IDUA):c.249C>G (p.Arg83=)
|
|
|
|
NM_000203.5(IDUA):c.24del (p.Ala9fs)
|
|
|
|
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)
|
rs564306004
|
|
|
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
|
|
|
|
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
|
|
|
|
NM_000203.5(IDUA):c.258G>A (p.Lys86=)
|
|
|
|
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
|
|
|
|
NM_000203.5(IDUA):c.265C>G (p.Arg89Gly)
|
|
|
|
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
|
rs2153015687
|
|
|
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
|
|
|
|
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
|
rs1369414449
|
|
|
NM_000203.5(IDUA):c.270C>T (p.Thr90=)
|
rs1307291779
|
|
|
NM_000203.5(IDUA):c.27G>A (p.Ala9=)
|
|
|
|
NM_000203.5(IDUA):c.280C>T (p.Leu94=)
|
|
|
|
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
|
rs1713872403
|
|
|
NM_000203.5(IDUA):c.291C>T (p.Val97=)
|
|
|
|
NM_000203.5(IDUA):c.297C>G (p.Thr99=)
|
rs1713873324
|
|
|
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
|
rs1713873324
|
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
|
NM_000203.5(IDUA):c.299+14A>G
|
|
|
|
NM_000203.5(IDUA):c.299+15G>A
|
|
|
|
NM_000203.5(IDUA):c.299+1G>C
|
rs398123259
|
|
|
NM_000203.5(IDUA):c.299_299+1delinsAT
|
rs2153015709
|
|
|
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)
|
rs753767675
|
|
|
NM_000203.5(IDUA):c.300-10C>T
|
rs753019413
|
|
|
NM_000203.5(IDUA):c.300-12G>A
|
|
|
|
NM_000203.5(IDUA):c.300-13C>G
|
|
|
|
NM_000203.5(IDUA):c.300-13C>T
|
|
|
|
NM_000203.5(IDUA):c.300-16G>A
|
|
|
|
NM_000203.5(IDUA):c.300-18C>T
|
|
|
|
NM_000203.5(IDUA):c.300-1G>A
|
rs1553916890
|
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
|
NM_000203.5(IDUA):c.300-4092_300-2318del
|
|
|
|
NM_000203.5(IDUA):c.300-4G>A
|
rs2153021604
|
|
|
NM_000203.5(IDUA):c.300-7_306del
|
|
|
|
NM_000203.5(IDUA):c.300-8T>C
|
|
|
|
NM_000203.5(IDUA):c.300-8T>G
|
|
|
|
NM_000203.5(IDUA):c.300-9C>T
|
rs1715011725
|
|
|
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg)
|
rs2153021609
|
|
|
NM_000203.5(IDUA):c.303G>A (p.Gly101=)
|
|
|
|
NM_000203.5(IDUA):c.303G>T (p.Gly101=)
|
rs753784242
|
|
|
NM_000203.5(IDUA):c.306C>T (p.Ser102=)
|
rs750244326
|
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
|
NM_000203.5(IDUA):c.312A>C (p.Gly104=)
|
rs2153021615
|
|
|
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
|
|
|
|
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)
|
rs3755955
|
|
|
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
|
|
|
|
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
|
|
|
|
NM_000203.5(IDUA):c.321G>C (p.Leu107=)
|
rs771434526
|
|
|
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
|
rs1715015091
|
|
|
NM_000203.5(IDUA):c.324C>T (p.Ser108=)
|
rs1304587706
|
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
|
NM_000203.5(IDUA):c.330C>T (p.Asn110=)
|
rs1715015617
|
|
|
NM_000203.5(IDUA):c.33G>T (p.Leu11=)
|
|
|
|
NM_000203.5(IDUA):c.340C>T (p.Leu114=)
|
|
|
|
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg)
|
rs148946496
|
|
|
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
|
rs1715016939
|
|
|
NM_000203.5(IDUA):c.349del (p.Tyr117fs)
|
rs2153021628
|
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
|
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
|
|
|
|
NM_000203.5(IDUA):c.351C>T (p.Tyr117=)
|
|
|
|
NM_000203.5(IDUA):c.355del (p.Asp119fs)
|
|
|
|
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
|
|
|
|
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro)
|
rs2153021634
|
|
|
NM_000203.5(IDUA):c.363C>T (p.Leu121=)
|
|
|
|
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys)
|
rs577729544
|
|
|
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
|
|
|
|
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
|
rs1403980379
|
|
|
NM_000203.5(IDUA):c.36G>T (p.Ala12=)
|
|
|
|
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
|
|
|
|
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
|
|
|
|
NM_000203.5(IDUA):c.378C>G (p.Leu126=)
|
|
|
|
NM_000203.5(IDUA):c.381C>T (p.Leu127=)
|
|
|
|
NM_000203.5(IDUA):c.385+11G>T
|
|
|
|
NM_000203.5(IDUA):c.385+12G>A
|
|
|
|
NM_000203.5(IDUA):c.385+15C>T
|
|
|
|
NM_000203.5(IDUA):c.385+19C>A
|
|
|
|
NM_000203.5(IDUA):c.385+1G>C
|
rs780615798
|
|
|
NM_000203.5(IDUA):c.385+20C>T
|
|
|
|
NM_000203.5(IDUA):c.385+7T>A
|
rs1361957376
|
|
|
NM_000203.5(IDUA):c.385+8G>A
|
rs747655234
|
|
|
NM_000203.5(IDUA):c.385+9T>C
|
|
|
|
NM_000203.5(IDUA):c.386-12C>T
|
|
|
|
NM_000203.5(IDUA):c.386-14C>T
|
|
|
|
NM_000203.5(IDUA):c.386-19C>T
|
rs889094166
|
|
|
NM_000203.5(IDUA):c.386-1G>A
|
rs2153021698
|
|
|
NM_000203.5(IDUA):c.386-4C>A
|
|
|
|
NM_000203.5(IDUA):c.386-9G>C
|
rs767145073
|
|
|
NM_000203.5(IDUA):c.390del (p.Phe130fs)
|
rs1560545883
|
|
|
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
|
rs1480225127
|
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
|
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)
|
rs558683362
|
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
|
NM_000203.5(IDUA):c.402C>A (p.Gly134=)
|
|
|
|
NM_000203.5(IDUA):c.403del (p.Ser135fs)
|
rs2153021702
|
|
|
NM_000203.5(IDUA):c.408C>G (p.Ala136=)
|
rs138195998
|
|
|
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp)
|
rs769949390
|
|
|
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu)
|
rs769949390
|
|
|
NM_000203.5(IDUA):c.411G>C (p.Ser137=)
|
|
|
|
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
|
rs866656054
|
|
|
NM_000203.5(IDUA):c.414C>G (p.Gly138=)
|
|
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
|
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
|
|
|
|
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn)
|
|
|
|
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
|
rs1389029860
|
|
|
NM_000203.5(IDUA):c.441G>A (p.Gln147=)
|
rs2153021713
|
|
|
NM_000203.5(IDUA):c.44C>T (p.Ala15Val)
|
rs886059749
|
|
|
NM_000203.5(IDUA):c.450T>C (p.Phe150=)
|
rs1230099124
|
|
|
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly)
|
|
|
|
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
|
|
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
|
NM_000203.5(IDUA):c.459G>A (p.Lys153=)
|
|
|
|
NM_000203.5(IDUA):c.45C>G (p.Ala15=)
|
|
|
|
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu)
|
rs2153021723
|
|
|
NM_000203.5(IDUA):c.463T>C (p.Leu155=)
|
|
|
|
NM_000203.5(IDUA):c.468C>G (p.Val156=)
|
rs763532209
|
|
|
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)
|
rs398123260
|
|
|
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
|
|
|
|
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
|
|
|
|
NM_000203.5(IDUA):c.474C>T (p.Ser158=)
|
rs1473137019
|
|
|
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
|
rs1237146626
|
|
|
NM_000203.5(IDUA):c.47C>A (p.Ser16Ter)
|
rs567921262
|
|
|
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)
|
rs1553916949
|
|
|
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)
|
rs1553916950
|
|
|
NM_000203.5(IDUA):c.48G>C (p.Ser16=)
|
rs2153015172
|
|
|
NM_000203.5(IDUA):c.493+10C>A
|
|
|
|
NM_000203.5(IDUA):c.493+11G>A
|
|
|
|
NM_000203.5(IDUA):c.493+16C>A
|
|
|
|
NM_000203.5(IDUA):c.493+17C>T
|
|
|
|
NM_000203.5(IDUA):c.493+18C>A
|
|
|
|
NM_000203.5(IDUA):c.493+18C>T
|
|
|
|
NM_000203.5(IDUA):c.493+1G>A
|
rs1553916957
|
|
|
NM_000203.5(IDUA):c.493+1G>T
|
|
|
|
NM_000203.5(IDUA):c.493+20G>T
|
|
|
|
NM_000203.5(IDUA):c.493+4G>A
|
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.493+6C>T
|
rs376738689
|
|
|
NM_000203.5(IDUA):c.493+7_493+8delinsAG
|
rs2153021739
|
|
|
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg)
|
rs748326989
|
|
|
NM_000203.5(IDUA):c.494-11C>G
|
|
|
|
NM_000203.5(IDUA):c.494-12G>C
|
rs761396518
|
|
|
NM_000203.5(IDUA):c.494-19C>T
|
|
|
|
NM_000203.5(IDUA):c.494-1G>A
|
rs794727701
|
|
|
NM_000203.5(IDUA):c.494-43C>T
|
|
|
|
NM_000203.5(IDUA):c.494-4G>C
|
|
|
|
NM_000203.5(IDUA):c.494-6C>T
|
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
|
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
|
|
|
|
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
|
rs756471914
|
|
|
NM_000203.5(IDUA):c.507G>A (p.Leu169=)
|
|
|
|
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
|
|
|
|
NM_000203.5(IDUA):c.510G>C (p.Ala170=)
|
rs754039388
|
|
|
NM_000203.5(IDUA):c.510G>T (p.Ala170=)
|
rs754039388
|
|
|
NM_000203.5(IDUA):c.512A>G (p.His171Arg)
|
|
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
|
NM_000203.5(IDUA):c.516T>C (p.Val172=)
|
rs746986558
|
|
|
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
|
|
|
|
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)
|
rs875989946
|
|
|
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
|
|
|
|
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
|
rs776305028
|
|
|
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
|
rs2153015176
|
|
|
NM_000203.5(IDUA):c.531C>T (p.Phe177=)
|
rs769331894
|
|
|
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
|
|
|
|
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
|
|
|
|
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
|
|
|
|
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)
|
rs776098539
|
|
|
NM_000203.5(IDUA):c.537G>T (p.Thr179=)
|
rs761106308
|
|
|
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
|
rs1044231895
|
|
|
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)
|
rs2153021904
|
|
|
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
|
|
|
|
NM_000203.5(IDUA):c.542dup (p.Asn181fs)
|
rs1553917044
|
|
|
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
|
|
|
|
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
|
|
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
|
NM_000203.5(IDUA):c.549A>G (p.Pro183=)
|
|
|
|
NM_000203.5(IDUA):c.54G>A (p.Leu18=)
|
|
|
|
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
|
|
|
|
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
|
|
|
|
NM_000203.5(IDUA):c.558C>T (p.His186=)
|
rs1164118339
|
|
|
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
|
rs1713786448
|
|
|
NM_000203.5(IDUA):c.567C>T (p.Asp189=)
|
|
|
|
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
|
|
|
|
NM_000203.5(IDUA):c.570C>T (p.Asn190=)
|
|
|
|
NM_000203.5(IDUA):c.570del (p.Asn190fs)
|
rs1330366594
|
|
|
NM_000203.5(IDUA):c.573C>G (p.Val191=)
|
|
|
|
NM_000203.5(IDUA):c.573C>T (p.Val191=)
|
rs1560546652
|
|
|
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys)
|
rs1189807498
|
|
|
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
|
|
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
|
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
|
rs2153021921
|
|
|
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
|
|
|
|
NM_000203.5(IDUA):c.589+17G>A
|
rs2153021928
|
|
|
NM_000203.5(IDUA):c.589+1G>T
|
rs1293215555
|
|
|
NM_000203.5(IDUA):c.589+20G>T
|
|
|
|
NM_000203.5(IDUA):c.589+20dup
|
|
|
|
NM_000203.5(IDUA):c.589+7A>C
|
|
|
|
NM_000203.5(IDUA):c.589+7A>G
|
|
|
|
NM_000203.5(IDUA):c.589+8C>A
|
|
|
|
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser)
|
rs2153021926
|
|
|
NM_000203.5(IDUA):c.590-11C>A
|
|
|
|
NM_000203.5(IDUA):c.590-16T>C
|
|
|
|
NM_000203.5(IDUA):c.590-18A>C
|
rs1201137456
|
|
|
NM_000203.5(IDUA):c.590-19C>A
|
|
|
|
NM_000203.5(IDUA):c.590-1G>A
|
rs1715084294
|
|
|
NM_000203.5(IDUA):c.590-20G>C
|
|
|
|
NM_000203.5(IDUA):c.590-2A>G
|
rs1252941339
|
|
|
NM_000203.5(IDUA):c.590-45G>C
|
rs6829789
|
|
|
NM_000203.5(IDUA):c.590-4C>A
|
rs369299361
|
|
|
NM_000203.5(IDUA):c.590-4C>T
|
rs369299361
|
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
|
NM_000203.5(IDUA):c.590-8C>G
|
rs6848974
|
|
|
NM_000203.5(IDUA):c.590-8C>T
|
rs6848974
|
|
|
NM_000203.5(IDUA):c.590-8del
|
|
|
|
NM_000203.5(IDUA):c.590-8dup
|
|
|
|
NM_000203.5(IDUA):c.590-9_590-8delinsTT
|
rs2153021960
|
|
|
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)
|
rs770087890
|
|
|
NM_000203.5(IDUA):c.595C>T (p.Leu199=)
|
|
|
|
NM_000203.5(IDUA):c.597G>A (p.Leu199=)
|
rs190934144
|
|
|
NM_000203.5(IDUA):c.597G>C (p.Leu199=)
|
rs190934144
|
|
|
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
|
rs190934144
|
|
|
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)
|
|
|
|
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)
|
rs1553917091
|
|
|
NM_000203.5(IDUA):c.603C>T (p.Tyr201=)
|
|
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
|
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
|
rs1033313360
|
|
|
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
|
rs1033313360
|
|
|
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn)
|
rs2153021976
|
|
|
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr)
|
rs2153021976
|
|
|
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
|
|
|
|
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly)
|
rs2153021978
|
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
|
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
|
|
|
|
NM_000203.5(IDUA):c.612C>G (p.Ala204=)
|
|
|
|
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
|
rs372948062
|
|
|
NM_000203.5(IDUA):c.612_615del (p.Cys205fs)
|
rs875989947
|
|
|
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)
|
rs875989947
|
|
|
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
|
|
|
|
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
|
|
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
|
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr)
|
rs1715086540
|
|
|
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
|
rs1715086654
|
|
|
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
|
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.618G>C (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
|
rs377312287
|
|
|
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
|
|
|
|
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp)
|
|
|
|
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
|
|
|
|
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
|
rs2153021997
|
|
|
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
|
rs2153021998
|
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
|
|
|
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
|
|
|
|
NM_000203.5(IDUA):c.630del (p.Ala211fs)
|
|
|
|
NM_000203.5(IDUA):c.633C>T (p.Ala211=)
|
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
|
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
|
rs1383674405
|
|
|
NM_000203.5(IDUA):c.63C>A (p.Pro21=)
|
rs2153015191
|
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
|
NM_000203.5(IDUA):c.641C>G (p.Pro214Arg)
|
|
|
|
NM_000203.5(IDUA):c.642C>T (p.Pro214=)
|
|
|
|
NM_000203.5(IDUA):c.642_646del (p.Leu216fs)
|
rs2153022009
|
|
|
NM_000203.5(IDUA):c.649C>A (p.Arg217=)
|
rs1178237301
|
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
|
NM_000203.5(IDUA):c.651G>A (p.Arg217=)
|
|
|
|
NM_000203.5(IDUA):c.654G>A (p.Leu218=)
|
|
|
|
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
|
|
|
|
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
|
|
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
|
NM_000203.5(IDUA):c.660C>A (p.Gly220=)
|
|
|
|
NM_000203.5(IDUA):c.663C>T (p.Pro221=)
|
rs368553582
|
|
|
NM_000203.5(IDUA):c.663del (p.Gly222fs)
|
|
|
|
NM_000203.5(IDUA):c.666C>G (p.Gly222=)
|
|
|
|
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)
|
rs183347428
|
|
|
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)
|
|
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
|
|
|
NM_000203.5(IDUA):c.675C>T (p.Phe225=)
|
rs767436466
|
|
|
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
|
|
|
|
NM_000203.5(IDUA):c.678C>T (p.His226=)
|
rs2153022041
|
|
|
NM_000203.5(IDUA):c.681C>G (p.Thr227=)
|
|
|
|
NM_000203.5(IDUA):c.687G>A (p.Pro229=)
|
rs1488689927
|
|
|
NM_000203.5(IDUA):c.687G>T (p.Pro229=)
|
rs1488689927
|
|
|
NM_000203.5(IDUA):c.693C>A (p.Ser231=)
|
rs529773032
|
|
|
NM_000203.5(IDUA):c.693C>G (p.Ser231=)
|
|
|
|
NM_000203.5(IDUA):c.696G>A (p.Pro232=)
|
rs1715094235
|
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
|
NM_000203.5(IDUA):c.6T>C (p.Arg2=)
|
|
|
|
NM_000203.5(IDUA):c.702C>T (p.Ser234=)
|
|
|
|
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
|
|
|
|
NM_000203.5(IDUA):c.712C>T (p.Leu238=)
|
|
|
|
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro)
|
rs148789453
|
|
|
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
|
rs1295602141
|
|
|
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
|
rs1715096263
|
|
|
NM_000203.5(IDUA):c.718C>A (p.His240Asn)
|
rs1374359136
|
|
|
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
|
|
|
|
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
|
rs1715096917
|
|
|
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
|
|
|
|
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn)
|
rs1460797649
|
|
|
NM_000203.5(IDUA):c.72C>G (p.Ala24=)
|
|
|
|
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile)
|
rs1226615259
|
|
|
NM_000203.5(IDUA):c.735C>T (p.Thr245=)
|
|
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
|
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu)
|
|
|
|
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
|
|
|
|
NM_000203.5(IDUA):c.747T>C (p.Thr249=)
|
|
|
|
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
|
|
|
|
NM_000203.5(IDUA):c.750G>C (p.Gly250=)
|
|
|
|
NM_000203.5(IDUA):c.751del (p.Glu251fs)
|
|
|
|
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
|
|
|
|
NM_000203.5(IDUA):c.753G>A (p.Glu251=)
|
rs1471525812
|
|
|
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
|
|
|
|
NM_000203.5(IDUA):c.774C>T (p.Tyr258=)
|
|
|
|
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu)
|
rs2153022099
|
|
|
NM_000203.5(IDUA):c.777C>T (p.Ile259=)
|
|
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
|
NM_000203.5(IDUA):c.78C>G (p.Ala26=)
|
|
|
|
NM_000203.5(IDUA):c.78C>T (p.Ala26=)
|
|
|
|
NM_000203.5(IDUA):c.792+10G>A
|
rs1013190604
|
|
|
NM_000203.5(IDUA):c.792+13C>T
|
|
|
|
NM_000203.5(IDUA):c.792+14C>T
|
|
|
|
NM_000203.5(IDUA):c.792+16C>A
|
|
|
|
NM_000203.5(IDUA):c.792+17C>A
|
|
|
|
NM_000203.5(IDUA):c.792+18G>A
|
|
|
|
NM_000203.5(IDUA):c.792+18G>C
|
rs1413309758
|
|
|
NM_000203.5(IDUA):c.792+20C>T
|
|
|
|
NM_000203.5(IDUA):c.792+9T>G
|
|
|
|
NM_000203.5(IDUA):c.793-10C>G
|
rs886059754
|
|
|
NM_000203.5(IDUA):c.793-13G>A
|
rs2153022144
|
|
|
NM_000203.5(IDUA):c.793-2A>G
|
|
|
|
NM_000203.5(IDUA):c.793-7C>T
|
|
|
|
NM_000203.5(IDUA):c.793-9C>A
|
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
|
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
|
|
|
|
NM_000203.5(IDUA):c.798G>A (p.Ala266=)
|
rs2153022159
|
|
|
NM_000203.5(IDUA):c.798G>T (p.Ala266=)
|
rs2153022159
|
|
|
NM_000203.5(IDUA):c.801C>A (p.Arg267=)
|
rs751167219
|
|
|
NM_000203.5(IDUA):c.804C>T (p.Ser268=)
|
rs1353776736
|
|
|
NM_000203.5(IDUA):c.816C>T (p.Ile272=)
|
rs1379813895
|
|
|
NM_000203.5(IDUA):c.817C>T (p.Leu273=)
|
rs2153022167
|
|
|
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)
|
rs1553917192
|
|
|
NM_000203.5(IDUA):c.826_828del (p.Glu276del)
|
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
|
|
|
|
NM_000203.5(IDUA):c.834C>A (p.Val278=)
|
rs1308432668
|
|
|
NM_000203.5(IDUA):c.837C>A (p.Val279=)
|
rs758749484
|
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
|
NM_000203.5(IDUA):c.840G>C (p.Ala280=)
|
rs2153022177
|
|
|
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
|
rs747168143
|
|
|
NM_000203.5(IDUA):c.849C>T (p.Ile283=)
|
|
|
|
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
|
rs1426919426
|
|
|
NM_000203.5(IDUA):c.852G>A (p.Arg284=)
|
|
|
|
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
|
rs2153022186
|
|
|
NM_000203.5(IDUA):c.853del (p.Gln285fs)
|
rs2153022188
|
|
|
NM_000203.5(IDUA):c.855G>A (p.Gln285=)
|
rs781622799
|
|
|
NM_000203.5(IDUA):c.858C>T (p.Leu286=)
|
rs1577540331
|
|
|
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
|
rs748239393
|
|
|
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
|
rs1715117035
|
|
|
NM_000203.5(IDUA):c.864C>T (p.Pro288=)
|
rs1440415618
|
|
|
NM_000203.5(IDUA):c.866del (p.Lys289fs)
|
|
|
|
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
|
|
|
|
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu)
|
rs1715117568
|
|
|
NM_000203.5(IDUA):c.870C>T (p.Phe290=)
|
|
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
|
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)
|
rs779762183
|
|
|
NM_000203.5(IDUA):c.879C>A (p.Thr293=)
|
rs1472617552
|
|
|
NM_000203.5(IDUA):c.879C>G (p.Thr293=)
|
|
|
|
NM_000203.5(IDUA):c.882dup (p.Ile295fs)
|
rs2153022202
|
|
|
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)
|
rs1553917216
|
|
|
NM_000203.5(IDUA):c.888C>T (p.Tyr296=)
|
rs1463865220
|
|
|
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
|
|
|
|
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
|
rs1715120049
|
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
|
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
|
|
|
|
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
|
rs1715120552
|
|
|
NM_000203.5(IDUA):c.900G>T (p.Ala300=)
|
|
|
|
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
|
|
|
|
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu)
|
rs759390416
|
|
|
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
|
rs1715120993
|
|
|
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg)
|
rs767140903
|
|
|
NM_000203.5(IDUA):c.905del (p.Pro302fs)
|
rs2153022225
|
|
|
NM_000203.5(IDUA):c.910del (p.Val304fs)
|
rs2153022228
|
|
|
NM_000203.5(IDUA):c.911del (p.Val304fs)
|
rs2153022229
|
|
|
NM_000203.5(IDUA):c.915C>A (p.Gly305=)
|
|
|
|
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
|
rs1245130094
|
|
|
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
|
|
|
|
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
|
|
|
|
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
|
|
|
|
NM_000203.5(IDUA):c.927A>G (p.Pro309=)
|
|
|
|
NM_000203.5(IDUA):c.927A>T (p.Pro309=)
|
|
|
|
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)
|
rs121965023
|
|
|
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
|
|
|
|
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
|
rs1715123409
|
|
|
NM_000203.5(IDUA):c.93G>A (p.Leu31=)
|
rs2153015210
|
|
|
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr)
|
rs1715123919
|
|
|
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
|
rs6830825
|
|
|
NM_000203.5(IDUA):c.948G>C (p.Val316=)
|
rs1463496008
|
|
|
NM_000203.5(IDUA):c.94G>T (p.Val32Leu)
|
rs566741452
|
|
|
NM_000203.5(IDUA):c.950C>T (p.Thr317Ile)
|
|
|
|
NM_000203.5(IDUA):c.951C>G (p.Thr317=)
|
|
|
|
NM_000203.5(IDUA):c.951C>T (p.Thr317=)
|
rs1577540556
|
|
|
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
|
|
|
|
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
|
|
|
|
NM_000203.5(IDUA):c.954C>T (p.Tyr318=)
|
rs1400939830
|
|
|
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
|
|
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
|
NM_000203.5(IDUA):c.956C>T (p.Ala319Val)
|
rs781534097
|
|
|
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
|
|
|
|
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
|
rs1433608644
|
|
|
NM_000203.5(IDUA):c.965del (p.Val322fs)
|
rs2153022263
|
|
|
NM_000203.5(IDUA):c.96G>T (p.Val32=)
|
rs991986320
|
|
|
NM_000203.5(IDUA):c.972+10C>A
|
|
|
|
NM_000203.5(IDUA):c.972+10C>T
|
|
|
|
NM_000203.5(IDUA):c.972+11C>T
|
|
|
|
NM_000203.5(IDUA):c.972+12C>T
|
|
|
|
NM_000203.5(IDUA):c.972+12_972+20del
|
|
|
|
NM_000203.5(IDUA):c.972+18C>T
|
|
|
|
NM_000203.5(IDUA):c.972+1G>A
|
rs794727840
|
|
|
NM_000203.5(IDUA):c.972+7C>A
|
rs2153022267
|
|
|
NM_000203.5(IDUA):c.972+7C>G
|
|
|
|
NM_000203.5(IDUA):c.972+7C>T
|
|
|
|
NM_000203.5(IDUA):c.972+9G>A
|
|
|
|
NM_000203.5(IDUA):c.973-11G>T
|
rs1383531589
|
|
|
NM_000203.5(IDUA):c.973-13T>G
|
|
|
|
NM_000203.5(IDUA):c.973-14C>G
|
|
|
|
NM_000203.5(IDUA):c.973-15C>T
|
|
|
|
NM_000203.5(IDUA):c.973-17G>A
|
|
|
|
NM_000203.5(IDUA):c.973-45G>C
|
rs6831021
|
|
|
NM_000203.5(IDUA):c.973-5C>T
|
|
|
|
NM_000203.5(IDUA):c.975C>A (p.Val325=)
|
rs2153022311
|
|
|
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)
|
rs1553917253
|
|
|
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr)
|
rs1461992821
|
|
|
NM_000203.5(IDUA):c.981G>C (p.Ala327=)
|
|
|
|
NM_000203.5(IDUA):c.984G>C (p.Gln328His)
|
|
|
|
NM_000203.5(IDUA):c.98_99insGGTGGACGGTGCA (p.His33fs)
|
|
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|
|
NM_000203.5(IDUA):c.996G>A (p.Leu332=)
|
|
|
|
NM_000203.5(IDUA):c.996G>C (p.Leu332=)
|
rs1052930401
|
|
|
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
|
|
|
|
NM_000203.5(IDUA):c.9C>T (p.Pro3=)
|
|
|
|
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
|
|
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
|
NM_000207.3(INS):c.*59A>G
|
rs397515519
|
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
|
NM_000207.3(INS):c.-39A>C
|
rs1554921033
|
|
|
NM_000207.3(INS):c.104T>A (p.Leu35Gln)
|
|
|
|
NM_000207.3(INS):c.104T>C (p.Leu35Pro)
|
rs121908273
|
|
|
NM_000207.3(INS):c.115C>T (p.Leu39Phe)
|
rs2133676660
|
|
|
NM_000207.3(INS):c.125T>C (p.Val42Ala)
|
rs886037863
|
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
|
NM_000207.3(INS):c.137G>A (p.Arg46Gln)
|
rs121908260
|
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
|
NM_000207.3(INS):c.143T>G (p.Phe48Cys)
|
rs80356668
|
|
|
NM_000207.3(INS):c.153A>G (p.Thr51=)
|
rs773789432
|
|
|
NM_000207.3(INS):c.155C>A (p.Pro52His)
|
rs145038693
|
|
|
NM_000207.3(INS):c.155C>T (p.Pro52Leu)
|
rs145038693
|
|
|
NM_000207.3(INS):c.187+15C>A
|
rs754089310
|
|
|
NM_000207.3(INS):c.187+241G>A
|
rs886041083
|
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
|
NM_000207.3(INS):c.188-3C>A
|
rs886048111
|
|
|
NM_000207.3(INS):c.250G>A (p.Gly84Arg)
|
rs121908274
|
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
|
NM_000207.3(INS):c.26C>G (p.Pro9Arg)
|
rs1564912403
|
|
|
NM_000207.3(INS):c.274G>T (p.Val92Leu)
|
rs121918102
|
|
|
NM_000207.3(INS):c.278A>G (p.Glu93Gly)
|
rs1057524907
|
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
|
NM_000207.3(INS):c.287G>C (p.Cys96Ser)
|
rs80356671
|
|
|
NM_000207.3(INS):c.290C>G (p.Thr97Ser)
|
rs1564911425
|
|
|
NM_000207.3(INS):c.302C>G (p.Ser101Cys)
|
rs121908276
|
|
|
NM_000207.3(INS):c.308A>G (p.Tyr103Cys)
|
rs121908277
|
|
|
NM_000207.3(INS):c.323A>G (p.Tyr108Cys)
|
rs80356672
|
|
|
NM_000207.3(INS):c.3G>A (p.Met1Ile)
|
rs397515521
|
|
|
NM_000207.3(INS):c.3G>T (p.Met1Ile)
|
rs397515521
|
|
|
NM_000207.3(INS):c.67G>A (p.Ala23Thr)
|
rs13306444
|
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
|
NM_000207.3(INS):c.72C>A (p.Ala24=)
|
rs539284976
|
|
|
NM_000207.3(INS):c.85C>G (p.His29Asp)
|
rs121908272
|
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
|
NM_000207.3(INS):c.94G>C (p.Gly32Arg)
|
rs80356664
|
|
|
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)
|
rs1599937180
|
|
|
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
|
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
|
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
|
rs121913156
|
|
|
NM_000208.4(INSR):c.653-23TC[9]
|
rs3835070
|
|
|
NM_000208.4(INSR):c.653-9_653-7delinsC
|
rs1568470641
|
|
|
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
|
|
|
|
NM_000209.4(PDX1):c.-50CTCCCGG[5]
|
rs193922352
|
|
|
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg)
|
rs936861677
|
|
|
NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro)
|
|
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
|
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
|
|
|
|
NM_000209.4(PDX1):c.217del (p.Leu73fs)
|
|
|
|
NM_000209.4(PDX1):c.231C>T (p.Pro77=)
|
|
|
|
NM_000209.4(PDX1):c.234G>T (p.Ala78=)
|
|
|
|
NM_000209.4(PDX1):c.258C>T (p.Leu86=)
|
|
|
|
NM_000209.4(PDX1):c.282C>G (p.His94Gln)
|
rs2137502663
|
|
|
NM_000209.4(PDX1):c.288C>G (p.Pro96=)
|
|
|
|
NM_000209.4(PDX1):c.312C>T (p.Ala104=)
|
rs535722487
|
|
|
NM_000209.4(PDX1):c.318G>T (p.Pro106=)
|
rs193922354
|
|
|
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)
|
|
|
|
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)
|
rs193922355
|
|
|
NM_000209.4(PDX1):c.502A>C (p.Asn168His)
|
rs1555241857
|
|
|
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)
|
rs387906777
|
|
|
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
|
|
|
|
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)
|
rs193922356
|
|
|
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu)
|
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
|
NM_000209.4(PDX1):c.671_672dup (p.Gln225fs)
|
|
|
|
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
|
|
|
|
NM_000209.4(PDX1):c.693C>G (p.Ser231=)
|
|
|
|
NM_000209.4(PDX1):c.708G>C (p.Leu236=)
|
|
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
|
NM_000209.4(PDX1):c.735dup (p.Gly246fs)
|
|
|
|
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter)
|
rs1236618998
|
|
|
NM_000209.4(PDX1):c.816C>T (p.Ser272=)
|
|
|
|
NM_000209.4(PDX1):c.825G>C (p.Ala275=)
|
|
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
|
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)
|
rs759412123
|
|
|
NM_000213.5(ITGB4):c.5218+2T>C
|
rs780675808
|
|
|
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs)
|
rs1555746537
|
|
|
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter)
|
rs1443010160
|
|
|
NM_000262.3(NAGA):c.*1090G>A
|
rs886057594
|
|
|
NM_000262.3(NAGA):c.*1299C>T
|
rs886057592
|
|
|
NM_000262.3(NAGA):c.*1484A>G
|
rs1433090840
|
|
|
NM_000262.3(NAGA):c.*1788_*1789del
|
rs10713176
|
|
|
NM_000262.3(NAGA):c.*1789del
|
rs10713176
|
|
|
NM_000262.3(NAGA):c.*1862C>A
|
rs1926176961
|
|
|
NM_000262.3(NAGA):c.*730T>C
|
rs1926239462
|
|
|
NM_000262.3(NAGA):c.*926C>G
|
rs886057595
|
|
|
NM_000262.3(NAGA):c.-306C>A
|
rs886057598
|
|
|
NM_000262.3(NAGA):c.-496G>C
|
rs886057599
|
|
|
NM_000262.3(NAGA):c.-502A>C
|
rs886057600
|
|
|
NM_000262.3(NAGA):c.1008C>T (p.Ser336=)
|
|
|
|
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
|
|
|
|
NM_000262.3(NAGA):c.1029C>A (p.Cys343Ter)
|
|
|
|
NM_000262.3(NAGA):c.102A>G (p.Glu34=)
|
|
|
|
NM_000262.3(NAGA):c.1035C>T (p.Thr345=)
|
|
|
|
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
|
|
|
|
NM_000262.3(NAGA):c.1047T>G (p.Tyr349Ter)
|
|
|
|
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
|
rs1926874320
|
|
|
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
|
|
|
|
NM_000262.3(NAGA):c.1083C>A (p.Thr361=)
|
|
|
|
NM_000262.3(NAGA):c.1083C>T (p.Thr361=)
|
|
|
|
NM_000262.3(NAGA):c.1089T>G (p.Ser363=)
|
|
|
|
NM_000262.3(NAGA):c.1098T>C (p.Tyr366=)
|
|
|
|
NM_000262.3(NAGA):c.1101+10C>G
|
|
|
|
NM_000262.3(NAGA):c.1101+10C>T
|
|
|
|
NM_000262.3(NAGA):c.1101+11G>A
|
|
|
|
NM_000262.3(NAGA):c.1101+11G>C
|
|
|
|
NM_000262.3(NAGA):c.1102-10C>A
|
|
|
|
NM_000262.3(NAGA):c.1102-18T>C
|
|
|
|
NM_000262.3(NAGA):c.1102-7A>G
|
|
|
|
NM_000262.3(NAGA):c.1102-8C>T
|
|
|
|
NM_000262.3(NAGA):c.1102-9C>T
|
|
|
|
NM_000262.3(NAGA):c.1104C>T (p.Ala368=)
|
|
|
|
NM_000262.3(NAGA):c.111C>T (p.Arg37=)
|
|
|
|
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
|
|
|
|
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)
|
rs752717782
|
|
|
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
|
|
|
|
NM_000262.3(NAGA):c.1182G>A (p.Gly394=)
|
|
|
|
NM_000262.3(NAGA):c.1197C>T (p.Tyr399=)
|
|
|
|
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
|
|
|
|
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
|
rs1926286045
|
|
|
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)
|
rs1569456853
|
|
|
NM_000262.3(NAGA):c.1233G>A (p.Gln411=)
|
|
|
|
NM_000262.3(NAGA):c.123C>G (p.Asn41Lys)
|
|
|
|
NM_000262.3(NAGA):c.126T>C (p.Cys42=)
|
|
|
|
NM_000262.3(NAGA):c.129T>C (p.Asp43=)
|
|
|
|
NM_000262.3(NAGA):c.141G>A (p.Lys47=)
|
|
|
|
NM_000262.3(NAGA):c.147C>T (p.Cys49=)
|
|
|
|
NM_000262.3(NAGA):c.150A>C (p.Ile50=)
|
|
|
|
NM_000262.3(NAGA):c.152+12C>T
|
|
|
|
NM_000262.3(NAGA):c.152+16A>G
|
|
|
|
NM_000262.3(NAGA):c.152+17C>A
|
|
|
|
NM_000262.3(NAGA):c.152+17C>G
|
|
|
|
NM_000262.3(NAGA):c.152+18_152+21del
|
|
|
|
NM_000262.3(NAGA):c.153-15T>C
|
|
|
|
NM_000262.3(NAGA):c.153-16C>T
|
|
|
|
NM_000262.3(NAGA):c.153-20A>T
|
|
|
|
NM_000262.3(NAGA):c.153-6C>G
|
|
|
|
NM_000262.3(NAGA):c.153-9C>T
|
|
|
|
NM_000262.3(NAGA):c.156A>G (p.Glu52=)
|
|
|
|
NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)
|
|
|
|
NM_000262.3(NAGA):c.16+12G>A
|
|
|
|
NM_000262.3(NAGA):c.16+16G>T
|
|
|
|
NM_000262.3(NAGA):c.16+1G>A
|
|
|
|
NM_000262.3(NAGA):c.16+8C>T
|
|
|
|
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
|
rs1602499597
|
|
|
NM_000262.3(NAGA):c.17-12C>T
|
|
|
|
NM_000262.3(NAGA):c.17-13C>T
|
rs2146845518
|
|
|
NM_000262.3(NAGA):c.17-14C>T
|
|
|
|
NM_000262.3(NAGA):c.17-16C>T
|
|
|
|
NM_000262.3(NAGA):c.17-19C>G
|
|
|
|
NM_000262.3(NAGA):c.17-4C>T
|
|
|
|
NM_000262.3(NAGA):c.17-5C>G
|
|
|
|
NM_000262.3(NAGA):c.17-5C>T
|
|
|
|
NM_000262.3(NAGA):c.171G>A (p.Glu57=)
|
|
|
|
NM_000262.3(NAGA):c.183G>T (p.Arg61=)
|
|
|
|
NM_000262.3(NAGA):c.189A>C (p.Ala63=)
|
|
|
|
NM_000262.3(NAGA):c.213C>T (p.Gly71=)
|
|
|
|
NM_000262.3(NAGA):c.234T>C (p.Asp78=)
|
|
|
|
NM_000262.3(NAGA):c.246C>A (p.Ile82=)
|
|
|
|
NM_000262.3(NAGA):c.246C>T (p.Ile82=)
|
|
|
|
NM_000262.3(NAGA):c.255C>T (p.Arg85=)
|
|
|
|
NM_000262.3(NAGA):c.256G>A (p.Asp86Asn)
|
|
|
|
NM_000262.3(NAGA):c.261C>T (p.Ala87=)
|
|
|
|
NM_000262.3(NAGA):c.270C>T (p.Arg90=)
|
|
|
|
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly)
|
rs140775168
|
|
|
NM_000262.3(NAGA):c.291C>T (p.Arg97=)
|
rs1464598696
|
|
|
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala)
|
|
|
|
NM_000262.3(NAGA):c.312C>T (p.Phe104=)
|
|
|
|
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)
|
|
|
|
NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)
|
|
|
|
NM_000262.3(NAGA):c.322_324+9del
|
|
|
|
NM_000262.3(NAGA):c.324+13C>A
|
|
|
|
NM_000262.3(NAGA):c.324+15A>G
|
|
|
|
NM_000262.3(NAGA):c.324+17C>T
|
|
|
|
NM_000262.3(NAGA):c.324+1G>C
|
|
|
|
NM_000262.3(NAGA):c.324+8G>A
|
|
|
|
NM_000262.3(NAGA):c.324+8G>T
|
|
|
|
NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)
|
|
|
|
NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)
|
|
|
|
NM_000262.3(NAGA):c.325-10A>T
|
|
|
|
NM_000262.3(NAGA):c.325-19T>C
|
|
|
|
NM_000262.3(NAGA):c.325-21_325-3del
|
|
|
|
NM_000262.3(NAGA):c.325-5C>G
|
|
|
|
NM_000262.3(NAGA):c.325-5C>T
|
|
|
|
NM_000262.3(NAGA):c.325-8C>T
|
|
|
|
NM_000262.3(NAGA):c.333C>T (p.Ser111=)
|
|
|
|
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys)
|
|
|
|
NM_000262.3(NAGA):c.33T>C (p.His11=)
|
|
|
|
NM_000262.3(NAGA):c.354del (p.Tyr119fs)
|
|
|
|
NM_000262.3(NAGA):c.357C>T (p.Tyr119=)
|
|
|
|
NM_000262.3(NAGA):c.365T>C (p.Met122Thr)
|
rs1435943514
|
|
|
NM_000262.3(NAGA):c.369C>T (p.Gly123=)
|
|
|
|
NM_000262.3(NAGA):c.375C>T (p.Phe125=)
|
|
|
|
NM_000262.3(NAGA):c.402_403del (p.Leu135fs)
|
|
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
|
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
|
rs186173534
|
|
|
NM_000262.3(NAGA):c.411G>A (p.Lys137=)
|
|
|
|
NM_000262.3(NAGA):c.435C>T (p.Phe145=)
|
|
|
|
NM_000262.3(NAGA):c.438C>G (p.Ala146=)
|
rs376622171
|
|
|
NM_000262.3(NAGA):c.438C>T (p.Ala146=)
|
|
|
|
NM_000262.3(NAGA):c.459C>G (p.Leu153=)
|
|
|
|
NM_000262.3(NAGA):c.459C>T (p.Leu153=)
|
|
|
|
NM_000262.3(NAGA):c.468T>C (p.Asp156=)
|
|
|
|
NM_000262.3(NAGA):c.480C>T (p.Ser160=)
|
|
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
|
NM_000262.3(NAGA):c.491A>C (p.Glu164Ala)
|
|
|
|
NM_000262.3(NAGA):c.498C>T (p.Ala166=)
|
|
|
|
NM_000262.3(NAGA):c.502+10G>A
|
|
|
|
NM_000262.3(NAGA):c.502+10G>C
|
|
|
|
NM_000262.3(NAGA):c.502+16G>A
|
|
|
|
NM_000262.3(NAGA):c.502+17G>T
|
|
|
|
NM_000262.3(NAGA):c.502+18C>A
|
|
|
|
NM_000262.3(NAGA):c.502+19T>G
|
|
|
|
NM_000262.3(NAGA):c.502+7T>C
|
|
|
|
NM_000262.3(NAGA):c.502+8dup
|
|
|
|
NM_000262.3(NAGA):c.503-8T>C
|
|
|
|
NM_000262.3(NAGA):c.504G>A (p.Gly168=)
|
|
|
|
NM_000262.3(NAGA):c.507C>T (p.Tyr169=)
|
|
|
|
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys)
|
|
|
|
NM_000262.3(NAGA):c.543C>T (p.Arg181=)
|
|
|
|
NM_000262.3(NAGA):c.546C>T (p.Pro182=)
|
|
|
|
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr)
|
|
|
|
NM_000262.3(NAGA):c.573C>T (p.Ala191=)
|
rs2146842828
|
|
|
NM_000262.3(NAGA):c.577G>T (p.Glu193Ter)
|
rs121434531
|
|
|
NM_000262.3(NAGA):c.57C>T (p.Asp19=)
|
|
|
|
NM_000262.3(NAGA):c.585C>G (p.Gly195=)
|
|
|
|
NM_000262.3(NAGA):c.585C>T (p.Gly195=)
|
|
|
|
NM_000262.3(NAGA):c.588C>T (p.Leu196=)
|
|
|
|
NM_000262.3(NAGA):c.591C>A (p.Pro197=)
|
|
|
|
NM_000262.3(NAGA):c.591C>G (p.Pro197=)
|
|
|
|
NM_000262.3(NAGA):c.591C>T (p.Pro197=)
|
|
|
|
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)
|
rs139027070
|
|
|
NM_000262.3(NAGA):c.595A>C (p.Arg199=)
|
|
|
|
NM_000262.3(NAGA):c.597+17C>G
|
|
|
|
NM_000262.3(NAGA):c.597+17C>T
|
|
|
|
NM_000262.3(NAGA):c.597+18dup
|
rs553359794
|
|
|
NM_000262.3(NAGA):c.597+19T>A
|
|
|
|
NM_000262.3(NAGA):c.597+7C>A
|
|
|
|
NM_000262.3(NAGA):c.598-17T>C
|
|
|
|
NM_000262.3(NAGA):c.598-1G>A
|
|
|
|
NM_000262.3(NAGA):c.598-20G>A
|
|
|
|
NM_000262.3(NAGA):c.598-5T>C
|
|
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
|
NM_000262.3(NAGA):c.606_607del (p.Tyr202_Ser203delinsTer)
|
|
|
|
NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)
|
|
|
|
NM_000262.3(NAGA):c.639dup (p.Asn214Ter)
|
|
|
|
NM_000262.3(NAGA):c.648T>C (p.Asp216=)
|
|
|
|
NM_000262.3(NAGA):c.651C>T (p.Asp217=)
|
|
|
|
NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)
|
|
|
|
NM_000262.3(NAGA):c.660C>T (p.Asp220=)
|
|
|
|
NM_000262.3(NAGA):c.665G>A (p.Trp222Ter)
|
|
|
|
NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)
|
|
|
|
NM_000262.3(NAGA):c.66C>T (p.Leu22=)
|
|
|
|
NM_000262.3(NAGA):c.672C>T (p.Ser224=)
|
|
|
|
NM_000262.3(NAGA):c.675G>T (p.Val225=)
|
|
|
|
NM_000262.3(NAGA):c.678C>G (p.Leu226=)
|
|
|
|
NM_000262.3(NAGA):c.685C>T (p.Leu229=)
|
|
|
|
NM_000262.3(NAGA):c.687G>A (p.Leu229=)
|
|
|
|
NM_000262.3(NAGA):c.696C>T (p.Phe232=)
|
|
|
|
NM_000262.3(NAGA):c.702G>A (p.Glu234=)
|
|
|
|
NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)
|
|
|
|
NM_000262.3(NAGA):c.729C>T (p.Ala243=)
|
|
|
|
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
|
|
|
|
NM_000262.3(NAGA):c.732C>T (p.Gly244=)
|
|
|
|
NM_000262.3(NAGA):c.753T>C (p.Pro251=)
|
|
|
|
NM_000262.3(NAGA):c.756_757del (p.Met253fs)
|
|
|
|
NM_000262.3(NAGA):c.759+11G>A
|
|
|
|
NM_000262.3(NAGA):c.759+14G>A
|
|
|
|
NM_000262.3(NAGA):c.759+17G>T
|
|
|
|
NM_000262.3(NAGA):c.759+18G>A
|
|
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
|
NM_000262.3(NAGA):c.760-13T>C
|
|
|
|
NM_000262.3(NAGA):c.760-17C>G
|
|
|
|
NM_000262.3(NAGA):c.760-17_760-15del
|
|
|
|
NM_000262.3(NAGA):c.760-5C>A
|
|
|
|
NM_000262.3(NAGA):c.760-9T>C
|
|
|
|
NM_000262.3(NAGA):c.765C>A (p.Leu255=)
|
|
|
|
NM_000262.3(NAGA):c.774C>T (p.Asn258=)
|
|
|
|
NM_000262.3(NAGA):c.780T>C (p.Gly260=)
|
|
|
|
NM_000262.3(NAGA):c.78A>T (p.Pro26=)
|
|
|
|
NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)
|
|
|
|
NM_000262.3(NAGA):c.801G>A (p.Arg267=)
|
|
|
|
NM_000262.3(NAGA):c.816G>T (p.Leu272=)
|
|
|
|
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
|
|
|
|
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
|
rs762474603
|
|
|
NM_000262.3(NAGA):c.834C>A (p.Ala278=)
|
|
|
|
NM_000262.3(NAGA):c.837C>G (p.Pro279=)
|
rs149066012
|
|
|
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile)
|
rs578127376
|
|
|
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
|
|
|
|
NM_000262.3(NAGA):c.839del (p.Leu280fs)
|
|
|
|
NM_000262.3(NAGA):c.840C>A (p.Leu280=)
|
|
|
|
NM_000262.3(NAGA):c.843G>A (p.Leu281=)
|
|
|
|
NM_000262.3(NAGA):c.849C>T (p.Ser283=)
|
|
|
|
NM_000262.3(NAGA):c.867C>T (p.Ile289=)
|
|
|
|
NM_000262.3(NAGA):c.870C>T (p.Ser290=)
|
|
|
|
NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_000262.3(NAGA):c.879C>T (p.Asn293=)
|
|
|
|
NM_000262.3(NAGA):c.894G>A (p.Gln298=)
|
|
|
|
NM_000262.3(NAGA):c.903C>G (p.Leu301=)
|
|
|
|
NM_000262.3(NAGA):c.903C>T (p.Leu301=)
|
rs765754053
|
|
|
NM_000262.3(NAGA):c.91C>G (p.Leu31Val)
|
|
|
|
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)
|
|
|
|
NM_000262.3(NAGA):c.928T>C (p.Leu310=)
|
|
|
|
NM_000262.3(NAGA):c.939G>A (p.Gln313=)
|
|
|
|
NM_000262.3(NAGA):c.949_957+8del
|
|
|
|
NM_000262.3(NAGA):c.957+13G>A
|
|
|
|
NM_000262.3(NAGA):c.957+16G>A
|
|
|
|
NM_000262.3(NAGA):c.958-12T>A
|
|
|
|
NM_000262.3(NAGA):c.958-14C>T
|
|
|
|
NM_000262.3(NAGA):c.958-16C>T
|
|
|
|
NM_000262.3(NAGA):c.958-20T>G
|
|
|
|
NM_000262.3(NAGA):c.958-6G>A
|
|
|
|
NM_000262.3(NAGA):c.958-7T>C
|
|
|
|
NM_000262.3(NAGA):c.958-8G>A
|
|
|
|
NM_000262.3(NAGA):c.968_969del (p.Leu323fs)
|
|
|
|
NM_000262.3(NAGA):c.972C>T (p.Ile324=)
|
|
|
|
NM_000262.3(NAGA):c.985C>T (p.Arg329Trp)
|
rs121434530
|
|
|
NM_000263.3(NAGLU):c.-78C>G
|
rs886052951
|
|
|
NM_000263.3(NAGLU):c.-82T>C
|
rs886052950
|
|
|
NM_000263.4(NAGLU):c.*174A>G
|
rs896549130
|
|
|
NM_000263.4(NAGLU):c.*198del
|
rs747726415
|
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
|
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)
|
rs376090795
|
|
|
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
|
rs2092906031
|
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=)
|
rs2143100146
|
|
|
NM_000263.4(NAGLU):c.1021+11T>A
|
|
|
|
NM_000263.4(NAGLU):c.1021+13G>C
|
|
|
|
NM_000263.4(NAGLU):c.1021+15T>C
|
rs149434978
|
|
|
NM_000263.4(NAGLU):c.1021+15T>G
|
rs149434978
|
|
|
NM_000263.4(NAGLU):c.1021+16G>A
|
|
|
|
NM_000263.4(NAGLU):c.1021+9C>T
|
|
|
|
NM_000263.4(NAGLU):c.1022-10C>G
|
|
|
|
NM_000263.4(NAGLU):c.1022-14C>T
|
|
|
|
NM_000263.4(NAGLU):c.1022-17C>G
|
|
|
|
NM_000263.4(NAGLU):c.1022-18C>A
|
|
|
|
NM_000263.4(NAGLU):c.1022-20C>T
|
rs1294766961
|
|
|
NM_000263.4(NAGLU):c.1022-2A>G
|
|
|
|
NM_000263.4(NAGLU):c.1022-8G>A
|
rs2092925422
|
|
|
NM_000263.4(NAGLU):c.1023G>T (p.Val341=)
|
rs1267291000
|
|
|
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
|
|
|
|
NM_000263.4(NAGLU):c.103C>T (p.Leu35Phe)
|
rs2143075651
|
|
|
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
|
|
|
|
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=)
|
rs776863513
|
|
|
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=)
|
rs2143107360
|
|
|
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
|
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1063del (p.Gln355fs)
|
rs1180591588
|
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu)
|
rs753454744
|
|
|
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
|
|
|
|
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
|
|
|
|
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
|
|
|
|
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
|
rs778956418
|
|
|
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
|
rs2092906054
|
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
|
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter)
|
rs1555622242
|
|
|
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
|
|
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
|
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=)
|
rs2143107804
|
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1112del (p.Gly371fs)
|
rs1555622250
|
|
|
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
|
|
|
|
NM_000263.4(NAGLU):c.111C>G (p.Ala37=)
|
rs2143075712
|
|
|
NM_000263.4(NAGLU):c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)
|
rs2143075726
|
|
|
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
|
|
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
|
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
|
|
|
|
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
|
|
|
|
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
|
|
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
|
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
|
rs2143108047
|
|
|
NM_000263.4(NAGLU):c.115C>T (p.Leu39=)
|
rs2143075772
|
|
|
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs)
|
rs2092925958
|
|
|
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)
|
rs1555622266
|
|
|
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs)
|
rs2143108228
|
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
|
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
|
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
|
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=)
|
rs2143108378
|
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
|
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
|
|
|
|
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
|
|
|
|
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
|
|
|
|
NM_000263.4(NAGLU):c.120G>A (p.Leu40=)
|
|
|
|
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
|
rs2143075800
|
|
|
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter)
|
rs904672363
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
|
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
|
|
|
|
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
|
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
|
|
|
|
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
|
rs1170826218
|
|
|
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
|
|
|
|
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
|
|
|
|
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=)
|
rs2143108736
|
|
|
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
|
|
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1269G>A (p.Val423=)
|
rs2143108842
|
|
|
NM_000263.4(NAGLU):c.126A>G (p.Pro42=)
|
rs1463936178
|
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
|
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala)
|
rs771151036
|
|
|
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=)
|
rs2143108984
|
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs)
|
rs2092926507
|
|
|
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
|
rs2143109038
|
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
|
|
|
|
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
|
|
|
|
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
|
rs2143109090
|
|
|
NM_000263.4(NAGLU):c.129C>A (p.Gly43=)
|
|
|
|
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
|
|
|
|
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
|
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
|
rs1049139446
|
|
|
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
|
|
|
|
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=)
|
rs2092926617
|
|
|
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg)
|
rs1567893399
|
|
|
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
|
rs886493431
|
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
|
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
|
rs751479777
|
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
|
NM_000263.4(NAGLU):c.132C>A (p.Pro44=)
|
|
|
|
NM_000263.4(NAGLU):c.132C>G (p.Pro44=)
|
rs1489090930
|
|
|
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
|
rs2143109423
|
|
|
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
|
|
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
|
NM_000263.4(NAGLU):c.1336del (p.Glu446fs)
|
rs2143109467
|
|
|
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
|
rs2092926773
|
|
|
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
|
rs2143109514
|
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
|
|
|
|
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
|
|
|
|
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys)
|
rs375103824
|
|
|
NM_000263.4(NAGLU):c.136del (p.Ala46fs)
|
rs2143075902
|
|
|
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=)
|
rs1599260897
|
|
|
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
|
|
|
|
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
|
rs1238922003
|
|
|
NM_000263.4(NAGLU):c.138C>A (p.Ala46=)
|
rs2143075937
|
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)
|
rs1555622346
|
|
|
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs)
|
rs1555621402
|
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
|
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
|
rs1567893530
|
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
|
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
|
rs2143075952
|
|
|
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter)
|
rs1555622351
|
|
|
NM_000263.4(NAGLU):c.1425del (p.Thr476fs)
|
rs1250949842
|
|
|
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu)
|
rs118204024
|
|
|
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
|
|
|
|
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=)
|
rs752918057
|
|
|
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs)
|
rs1555622354
|
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
|
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
|
|
|
|
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
|
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
|
NM_000263.4(NAGLU):c.144C>A (p.Phe48Leu)
|
|
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
|
NM_000263.4(NAGLU):c.1453dup (p.Val485fs)
|
rs749338526
|
|
|
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
|
rs2092906185
|
|
|
NM_000263.4(NAGLU):c.1460dup (p.His487fs)
|
rs2143110493
|
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
|
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs)
|
rs1396150639
|
|
|
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
|
|
|
|
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
|
|
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
|
NM_000263.4(NAGLU):c.147C>G (p.Ser49=)
|
rs1312501106
|
|
|
NM_000263.4(NAGLU):c.147del (p.Val50fs)
|
|
|
|
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
|
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=)
|
|
|
|
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=)
|
rs1353058781
|
|
|
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
|
|
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
|
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
|
|
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
|
|
|
|
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
|
|
|
|
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
|
rs2092905670
|
|
|
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=)
|
rs1225039564
|
|
|
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
|
|
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
|
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
|
|
|
|
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=)
|
rs750897125
|
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
|
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
|
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=)
|
rs768357311
|
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
|
rs2143111531
|
|
|
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
|
rs2143076082
|
|
|
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
|
rs2143076082
|
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
|
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
|
rs2143111572
|
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser)
|
rs1599261339
|
|
|
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
|
|
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
|
|
|
|
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
|
|
|
|
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter)
|
rs2143111795
|
|
|
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
|
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
|
NM_000263.4(NAGLU):c.15G>A (p.Ala5=)
|
|
|
|
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
|
rs2092905675
|
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
|
|
|
|
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
|
rs780527821
|
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
|
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)
|
|
|
|
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
|
rs2143112148
|
|
|
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
|
|
|
|
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
|
rs2143112209
|
|
|
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
|
|
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
|
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
|
rs2143112304
|
|
|
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
|
|
|
|
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
|
rs2143112410
|
|
|
NM_000263.4(NAGLU):c.165T>C (p.Ala55=)
|
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
|
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
|
|
|
|
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
|
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
|
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter)
|
rs762031686
|
|
|
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn)
|
rs767510451
|
|
|
NM_000263.4(NAGLU):c.1675G>T (p.Asp559Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
|
rs760741593
|
|
|
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=)
|
rs766911974
|
|
|
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
|
|
|
|
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro)
|
rs2092928624
|
|
|
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg)
|
rs2092928624
|
|
|
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
|
|
|
|
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
|
rs2143112704
|
|
|
NM_000263.4(NAGLU):c.168G>C (p.Leu56=)
|
rs2092906262
|
|
|
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
|
|
|
|
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
|
|
|
|
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)
|
rs104894598
|
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
|
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
|
|
|
|
NM_000263.4(NAGLU):c.1696C>T (p.Gln566Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
|
|
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
|
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
|
rs535354102
|
|
|
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
|
|
|
|
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter)
|
rs1555622441
|
|
|
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
|
|
|
|
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter)
|
rs1555622443
|
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
|
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
|
|
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
|
|
|
|
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
|
|
|
|
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
|
|
|
|
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
|
|
|
|
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
|
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
|
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)
|
rs144238669
|
|
|
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=)
|
|
|
|
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
|
|
|
|
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
|
|
|
|
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=)
|
rs2143113512
|
|
|
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
|
rs1217324478
|
|
|
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
|
rs2143113520
|
|
|
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer)
|
rs2143113566
|
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
|
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=)
|
rs2143113596
|
|
|
NM_000263.4(NAGLU):c.177G>A (p.Lys59=)
|
rs1288446882
|
|
|
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val)
|
rs886052952
|
|
|
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
|
|
|
|
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
|
rs115166595
|
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
|
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
|
rs753170828
|
|
|
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=)
|
rs146715254
|
|
|
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
|
|
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
|
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=)
|
rs2143113802
|
|
|
NM_000263.4(NAGLU):c.180G>C (p.Pro60=)
|
rs1449219265
|
|
|
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser)
|
rs1347224658
|
|
|
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
|
|
|
|
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
|
|
|
|
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
|
|
|
|
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs)
|
rs2143113857
|
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
|
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
|
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
|
rs1198292626
|
|
|
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
|
|
|
|
NM_000263.4(NAGLU):c.183C>A (p.Gly61=)
|
|
|
|
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
|
rs2143076268
|
|
|
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
|
|
|
|
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
|
|
|
|
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)
|
rs1555622482
|
|
|
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
|
|
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
|
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
|
|
|
|
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter)
|
rs1555622488
|
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
|
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
|
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=)
|
rs2143114281
|
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
|
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
|
rs1281727710
|
|
|
NM_000263.4(NAGLU):c.1890C>T (p.Val630=)
|
rs1281727710
|
|
|
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs)
|
rs1555622505
|
|
|
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=)
|
rs2143114448
|
|
|
NM_000263.4(NAGLU):c.18G>A (p.Val6=)
|
rs1599253491
|
|
|
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
|
rs1599253491
|
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
|
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
|
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
|
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter)
|
rs555145190
|
|
|
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
|
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
|
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
|
|
|
|
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
|
|
|
|
NM_000263.4(NAGLU):c.192del (p.Tyr65fs)
|
rs2092906340
|
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
|
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter)
|
rs1555622533
|
|
|
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
|
|
|
|
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
|
rs2143076321
|
|
|
NM_000263.4(NAGLU):c.193del (p.Tyr65fs)
|
rs1555621432
|
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
|
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
|
|
|
|
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs)
|
rs886039895
|
|
|
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
|
|
|
|
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu)
|
rs527236038
|
|
|
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
|
rs2092929943
|
|
|
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
|
|
|
|
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=)
|
rs1482682282
|
|
|
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
|
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
|
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His)
|
rs1599262171
|
|
|
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)
|
|
|
|
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
|
|
|
|
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
|
|
|
|
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
|
rs981984204
|
|
|
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
|
|
|
|
NM_000263.4(NAGLU):c.1995del (p.Leu666fs)
|
rs1555622545
|
|
|
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
|
|
|
|
NM_000263.4(NAGLU):c.1A>G (p.Met1Val)
|
rs1325661354
|
|
|
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
|
|
|
|
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
|
|
|
|
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
|
|
|
|
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
|
|
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
|
NM_000263.4(NAGLU):c.201G>A (p.Leu67=)
|
rs2143076387
|
|
|
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
|
|
|
|
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=)
|
rs2143115704
|
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
|
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
|
|
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
|
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
|
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=)
|
rs115401566
|
|
|
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val)
|
rs1567894363
|
|
|
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
|
|
|
|
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg)
|
rs2092930339
|
|
|
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
|
|
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
|
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly)
|
rs2143115890
|
|
|
NM_000263.4(NAGLU):c.2053_2054del (p.Ser685fs)
|
rs1555622559
|
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
|
|
|
|
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter)
|
rs1195831432
|
|
|
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
|
|
|
|
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
|
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
|
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
|
|
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
|
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
|
|
|
|
NM_000263.4(NAGLU):c.207C>T (p.Gly69=)
|
|
|
|
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
|
|
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
|
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
|
|
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
|
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
|
|
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
|
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
|
rs2092930566
|
|
|
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=)
|
rs2092930575
|
|
|
NM_000263.4(NAGLU):c.210C>T (p.Gly70=)
|
|
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
|
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
|
|
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
|
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
|
|
|
|
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
|
|
|
|
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
|
rs2092930793
|
|
|
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
|
|
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del)
|
rs1567890245
|
|
|
NM_000263.4(NAGLU):c.214_237dup (p.Ala72_Gly79dup)
|
rs1567890245
|
|
|
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
|
|
|
|
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=)
|
rs114687267
|
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
|
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=)
|
rs2143116773
|
|
|
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs)
|
rs2143116788
|
|
|
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
|
|
|
|
NM_000263.4(NAGLU):c.217_221dup (p.Val75fs)
|
rs1555621442
|
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
|
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
|
rs2092906518
|
|
|
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs)
|
rs1431589133
|
|
|
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
|
|
|
|
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
|
|
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
|
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
|
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
rs2092931038
|
|
|
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser)
|
rs86312
|
|
|
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)
|
rs86312
|
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
|
NM_000263.4(NAGLU):c.220dup (p.Arg74fs)
|
rs1555621448
|
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
|
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
|
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
|
NM_000263.4(NAGLU):c.222_223del (p.Val75fs)
|
rs2143076561
|
|
|
NM_000263.4(NAGLU):c.222_247del (p.Val75fs)
|
rs1201516783
|
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
|
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
|
|
|
|
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
|
|
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
|
|
|
|
NM_000263.4(NAGLU):c.229_236del (p.Val77fs)
|
rs2143076634
|
|
|
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
|
rs1599253805
|
|
|
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
|
|
|
|
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
|
|
|
|
NM_000263.4(NAGLU):c.235G>T (p.Gly79Cys)
|
|
|
|
NM_000263.4(NAGLU):c.236G>A (p.Gly79Asp)
|
|
|
|
NM_000263.4(NAGLU):c.237_244dup (p.Gly82fs)
|
|
|
|
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
|
|
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
|
|
|
|
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
|
|
|
|
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp)
|
rs1599253815
|
|
|
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
|
|
|
|
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
|
|
|
|
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
|
|
|
|
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
|
|
|
|
NM_000263.4(NAGLU):c.252_265del (p.Ala86fs)
|
rs2143076795
|
|
|
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup)
|
rs1555621450
|
|
|
NM_000263.4(NAGLU):c.258C>G (p.Ala86=)
|
rs1381587394
|
|
|
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
|
|
|
|
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
|
|
|
|
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
|
|
|
|
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
|
rs2143076945
|
|
|
NM_000263.4(NAGLU):c.267G>A (p.Leu89=)
|
rs2143076955
|
|
|
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
|
|
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
|
|
|
|
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)
|
rs1555621405
|
|
|
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
|
rs2143076997
|
|
|
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
|
rs1285791183
|
|
|
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
|
|
|
|
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
|
rs1002286212
|
|
|
NM_000263.4(NAGLU):c.282C>G (p.Arg94=)
|
rs866267579
|
|
|
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
|
|
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
|
|
|
|
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp)
|
rs2092906798
|
|
|
NM_000263.4(NAGLU):c.294C>T (p.Gly98=)
|
rs1318421483
|
|
|
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr)
|
rs1013345784
|
|
|
NM_000263.4(NAGLU):c.2T>G (p.Met1Arg)
|
|
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
|
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
|
|
|
|
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
|
|
|
|
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter)
|
rs2092906864
|
|
|
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter)
|
rs1567890328
|
|
|
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
|
rs1244442641
|
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
|
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
|
|
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
|
NM_000263.4(NAGLU):c.315C>G (p.Gly105=)
|
rs2143077290
|
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
|
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs)
|
rs2143077277
|
|
|
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
|
|
|
|
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
|
|
|
|
NM_000263.4(NAGLU):c.321G>A (p.Gln107=)
|
rs779437712
|
|
|
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
|
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
|
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
|
|
|
|
NM_000263.4(NAGLU):c.327C>T (p.Arg109=)
|
rs2143077380
|
|
|
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
|
|
|
|
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)
|
|
|
|
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
|
rs1217361905
|
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
|
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
|
|
|
|
NM_000263.4(NAGLU):c.339A>T (p.Pro113=)
|
rs2143077498
|
|
|
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
|
rs2143077515
|
|
|
NM_000263.4(NAGLU):c.342G>A (p.Leu114=)
|
rs748632325
|
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
|
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu)
|
rs1379877908
|
|
|
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
|
rs2092906994
|
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
|
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
|
rs559674042
|
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
|
NM_000263.4(NAGLU):c.34dup (p.Val12fs)
|
|
|
|
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
|
|
|
|
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
|
|
|
|
NM_000263.4(NAGLU):c.354G>C (p.Pro118=)
|
rs745433070
|
|
|
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
|
|
|
|
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
|
rs1240470839
|
|
|
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter)
|
rs1445294968
|
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
|
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
|
rs769313280
|
|
|
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
|
rs769313280
|
|
|
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter)
|
rs796052123
|
|
|
NM_000263.4(NAGLU):c.36C>T (p.Val12=)
|
|
|
|
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)
|
rs1555621469
|
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
|
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
|
|
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
|
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys)
|
rs965226394
|
|
|
NM_000263.4(NAGLU):c.381C>T (p.Asn127=)
|
rs965226394
|
|
|
NM_000263.4(NAGLU):c.383+10C>G
|
rs1599254060
|
|
|
NM_000263.4(NAGLU):c.383+10C>T
|
rs1599254060
|
|
|
NM_000263.4(NAGLU):c.383+10del
|
|
|
|
NM_000263.4(NAGLU):c.383+11G>A
|
rs2143078004
|
|
|
NM_000263.4(NAGLU):c.383+13A>G
|
|
|
|
NM_000263.4(NAGLU):c.383+14G>A
|
|
|
|
NM_000263.4(NAGLU):c.383+15C>T
|
|
|
|
NM_000263.4(NAGLU):c.383+16T>A
|
|
|
|
NM_000263.4(NAGLU):c.383+17T>A
|
|
|
|
NM_000263.4(NAGLU):c.383+17del
|
|
|
|
NM_000263.4(NAGLU):c.383+20C>A
|
rs1168068741
|
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
|
NM_000263.4(NAGLU):c.383+7C>G
|
|
|
|
NM_000263.4(NAGLU):c.383+8C>G
|
|
|
|
NM_000263.4(NAGLU):c.384-10C>T
|
rs772996063
|
|
|
NM_000263.4(NAGLU):c.384-11A>G
|
|
|
|
NM_000263.4(NAGLU):c.384-12C>A
|
|
|
|
NM_000263.4(NAGLU):c.384-12C>T
|
|
|
|
NM_000263.4(NAGLU):c.384-15T>A
|
|
|
|
NM_000263.4(NAGLU):c.384-18T>C
|
|
|
|
NM_000263.4(NAGLU):c.384-19C>T
|
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
|
NM_000263.4(NAGLU):c.384-4G>A
|
rs763057510
|
|
|
NM_000263.4(NAGLU):c.384-4G>T
|
|
|
|
NM_000263.4(NAGLU):c.384-5C>T
|
rs770061369
|
|
|
NM_000263.4(NAGLU):c.384-8G>T
|
rs746106558
|
|
|
NM_000263.4(NAGLU):c.384-9T>C
|
|
|
|
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter)
|
rs1453761645
|
|
|
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
|
|
|
|
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
|
|
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
|
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
|
|
|
|
NM_000263.4(NAGLU):c.39T>G (p.Leu13=)
|
|
|
|
NM_000263.4(NAGLU):c.3G>A (p.Met1Ile)
|
rs2143074939
|
|
|
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
|
|
|
|
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
|
|
|
|
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
|
|
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
|
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs)
|
rs1460796923
|
|
|
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
|
|
|
|
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
|
|
|
|
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)
|
rs886043785
|
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
|
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
|
|
|
|
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter)
|
rs2092909726
|
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
|
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter)
|
rs2143082104
|
|
|
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
|
|
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
|
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
|
|
|
|
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
|
|
|
|
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
|
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
|
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter)
|
rs1261241939
|
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
|
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys)
|
rs1352416909
|
|
|
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
|
|
|
|
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
|
rs746876753
|
|
|
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
|
|
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
|
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
|
|
|
|
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)
|
rs1238423614
|
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
|
NM_000263.4(NAGLU):c.474G>A (p.Ala158=)
|
|
|
|
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
|
rs1052714676
|
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
|
NM_000263.4(NAGLU):c.480del (p.Asn160fs)
|
rs886039894
|
|
|
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
|
|
|
|
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
|
|
|
|
NM_000263.4(NAGLU):c.489C>T (p.Asn163=)
|
rs2143082353
|
|
|
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
|
|
|
|
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
|
|
|
|
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
|
|
|
|
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
|
|
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
|
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter)
|
rs1555621397
|
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
|
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter)
|
rs398123281
|
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
|
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
|
|
|
|
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)
|
rs483352897
|
|
|
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)
|
rs1555621605
|
|
|
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
|
|
|
|
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
|
|
|
|
NM_000263.4(NAGLU):c.51G>A (p.Gly17=)
|
rs2143075377
|
|
|
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter)
|
rs2143082538
|
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
|
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp)
|
rs370523900
|
|
|
NM_000263.4(NAGLU):c.531+10C>G
|
|
|
|
NM_000263.4(NAGLU):c.531+12C>T
|
rs989825472
|
|
|
NM_000263.4(NAGLU):c.531+15T>C
|
|
|
|
NM_000263.4(NAGLU):c.531+16C>G
|
|
|
|
NM_000263.4(NAGLU):c.531+17C>T
|
|
|
|
NM_000263.4(NAGLU):c.531+1G>A
|
rs1245939928
|
|
|
NM_000263.4(NAGLU):c.531+46_531+75del
|
rs1555621618
|
|
|
NM_000263.4(NAGLU):c.531+8C>T
|
|
|
|
NM_000263.4(NAGLU):c.531+9C>G
|
rs2143082621
|
|
|
NM_000263.4(NAGLU):c.532-11T>C
|
rs977518446
|
|
|
NM_000263.4(NAGLU):c.532-11T>G
|
|
|
|
NM_000263.4(NAGLU):c.532-14C>T
|
|
|
|
NM_000263.4(NAGLU):c.532-18T>C
|
|
|
|
NM_000263.4(NAGLU):c.532-19G>T
|
|
|
|
NM_000263.4(NAGLU):c.532-1G>A
|
rs2143086378
|
|
|
NM_000263.4(NAGLU):c.532-1G>C
|
rs2143086378
|
|
|
NM_000263.4(NAGLU):c.532-6C>T
|
|
|
|
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs)
|
rs1567891258
|
|
|
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
|
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
|
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
|
|
|
|
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
|
rs2143086433
|
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
|
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
|
|
|
|
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
|
|
|
|
NM_000263.4(NAGLU):c.54C>A (p.Ala18=)
|
|
|
|
NM_000263.4(NAGLU):c.54C>G (p.Ala18=)
|
rs1276497226
|
|
|
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
|
|
|
|
NM_000263.4(NAGLU):c.54_60dup (p.Ala21fs)
|
rs2143075344
|
|
|
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
|
|
|
|
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
|
|
|
|
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
|
|
|
|
NM_000263.4(NAGLU):c.57G>A (p.Gly19=)
|
rs2143075427
|
|
|
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu)
|
rs1599255987
|
|
|
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
|
|
|
|
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
|
|
|
|
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
|
|
|
|
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
|
rs1344891508
|
|
|
NM_000263.4(NAGLU):c.59dup (p.Ala21fs)
|
rs1253870232
|
|
|
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)
|
rs1555621396
|
|
|
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter)
|
rs2143086665
|
|
|
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
|
|
|
|
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
|
|
|
|
NM_000263.4(NAGLU):c.60C>T (p.Gly20=)
|
rs1421818277
|
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
|
NM_000263.4(NAGLU):c.615C>T (p.Gly205=)
|
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
|
NM_000263.4(NAGLU):c.618C>T (p.Asn206=)
|
rs2143086786
|
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
|
NM_000263.4(NAGLU):c.619C>T (p.Leu207=)
|
rs1052395549
|
|
|
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
|
|
|
|
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs)
|
rs2143086826
|
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
|
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter)
|
rs2092912895
|
|
|
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
|
|
|
|
NM_000263.4(NAGLU):c.63G>A (p.Ala21=)
|
|
|
|
NM_000263.4(NAGLU):c.640dup (p.Leu214fs)
|
rs2143086910
|
|
|
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
|
|
|
|
NM_000263.4(NAGLU):c.642G>A (p.Leu214=)
|
rs1555621747
|
|
|
NM_000263.4(NAGLU):c.642dup (p.Pro215fs)
|
rs2092912932
|
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
|
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
|
|
|
|
NM_000263.4(NAGLU):c.648del (p.Ser217fs)
|
rs760370189
|
|
|
NM_000263.4(NAGLU):c.648dup (p.Ser217fs)
|
rs760370189
|
|
|
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
|
|
|
|
NM_000263.4(NAGLU):c.657C>T (p.His219=)
|
rs779235263
|
|
|
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
|
|
|
|
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
|
|
|
|
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
|
|
|
|
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
|
|
|
|
NM_000263.4(NAGLU):c.678+10T>C
|
|
|
|
NM_000263.4(NAGLU):c.678+17G>A
|
|
|
|
NM_000263.4(NAGLU):c.678+1G>A
|
rs2143087145
|
|
|
NM_000263.4(NAGLU):c.678+7G>C
|
|
|
|
NM_000263.4(NAGLU):c.678+8G>A
|
rs2143087168
|
|
|
NM_000263.4(NAGLU):c.678+8del
|
|
|
|
NM_000263.4(NAGLU):c.679-11T>G
|
|
|
|
NM_000263.4(NAGLU):c.679-15_679-12del
|
|
|
|
NM_000263.4(NAGLU):c.679-16C>G
|
|
|
|
NM_000263.4(NAGLU):c.679-16C>T
|
|
|
|
NM_000263.4(NAGLU):c.679-18T>A
|
|
|
|
NM_000263.4(NAGLU):c.679-19C>G
|
|
|
|
NM_000263.4(NAGLU):c.679-19C>T
|
|
|
|
NM_000263.4(NAGLU):c.679-20C>T
|
|
|
|
NM_000263.4(NAGLU):c.679-5T>C
|
rs2143087834
|
|
|
NM_000263.4(NAGLU):c.679-6C>T
|
|
|
|
NM_000263.4(NAGLU):c.679-7C>T
|
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
|
NM_000263.4(NAGLU):c.684G>A (p.Arg228=)
|
|
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
|
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
|
rs2092905938
|
|
|
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly)
|
rs104894601
|
|
|
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)
|
rs886042073
|
|
|
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
|
rs886042073
|
|
|
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
|
rs2092913790
|
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
|
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
|
|
|
|
NM_000263.4(NAGLU):c.713del (p.Met238fs)
|
rs2143088088
|
|
|
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
|
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
|
NM_000263.4(NAGLU):c.71_87del (p.Asp24fs)
|
rs2143075470
|
|
|
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
|
rs892493572
|
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
|
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
|
rs200729468
|
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
|
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
|
|
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
|
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
|
|
|
|
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
|
|
|
|
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
|
|
|
|
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
|
|
|
|
NM_000263.4(NAGLU):c.741del (p.His248fs)
|
|
|
|
NM_000263.4(NAGLU):c.744T>C (p.His248=)
|
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
|
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
|
|
|
|
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
|
rs539019626
|
|
|
NM_000263.4(NAGLU):c.756T>G (p.Ala252=)
|
rs752423543
|
|
|
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
|
|
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
|
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
|
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|
|
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
|
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
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|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
|
NM_000263.4(NAGLU):c.764+10C>G
|
|
|
|
NM_000263.4(NAGLU):c.764+14C>T
|
|
|
|
NM_000263.4(NAGLU):c.764+16C>T
|
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|
|
NM_000263.4(NAGLU):c.764+17C>T
|
|
|
|
NM_000263.4(NAGLU):c.764+19C>A
|
rs77738617
|
|
|
NM_000263.4(NAGLU):c.764+19C>T
|
rs77738617
|
|
|
NM_000263.4(NAGLU):c.764+20C>A
|
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NM_000263.4(NAGLU):c.764+20del
|
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NM_000263.4(NAGLU):c.764+2T>C
|
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|
NM_000263.4(NAGLU):c.764+5G>A
|
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|
NM_000263.4(NAGLU):c.764+8T>C
|
rs2143088553
|
|
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NM_000263.4(NAGLU):c.764+9C>T
|
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
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NM_000263.4(NAGLU):c.765-12G>C
|
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NM_000263.4(NAGLU):c.765-14T>C
|
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NM_000263.4(NAGLU):c.765-16T>C
|
rs1006672054
|
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NM_000263.4(NAGLU):c.765-17C>T
|
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NM_000263.4(NAGLU):c.765-4C>T
|
rs755356822
|
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|
NM_000263.4(NAGLU):c.765-5A>G
|
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NM_000263.4(NAGLU):c.765-5A>T
|
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NM_000263.4(NAGLU):c.768G>A (p.Val256=)
|
rs2092919944
|
|
|
NM_000263.4(NAGLU):c.771C>T (p.Phe257=)
|
rs1599258298
|
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
|
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
|
rs988433554
|
|
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NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
|
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NM_000263.4(NAGLU):c.780C>A (p.Val260=)
|
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NM_000263.4(NAGLU):c.780C>T (p.Val260=)
|
rs1411789843
|
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NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
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|
NM_000263.4(NAGLU):c.786C>T (p.Val262=)
|
rs1599258325
|
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NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
|
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
|
rs746543896
|
|
|
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
|
rs2092905964
|
|
|
NM_000263.4(NAGLU):c.792G>A (p.Lys264=)
|
rs2092920064
|
|
|
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs)
|
rs1555622000
|
|
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NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
|
|
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
|
rs2143098123
|
|
|
NM_000263.4(NAGLU):c.807C>T (p.Gly269=)
|
rs2092920125
|
|
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NM_000263.4(NAGLU):c.809del (p.His270fs)
|
rs1555622002
|
|
|
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
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|
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)
|
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NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
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|
|
NM_000263.4(NAGLU):c.81G>C (p.Arg27=)
|
rs1021204618
|
|
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NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
|
|
|
|
NM_000263.4(NAGLU):c.820del (p.Ser274fs)
|
rs1452185692
|
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
|
|
NM_000263.4(NAGLU):c.82_87delinsTGTATAAGAGACA (p.Glu28fs)
|
|
|
|
NM_000263.4(NAGLU):c.82del (p.Glu28fs)
|
rs1430122594
|
|
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NM_000263.4(NAGLU):c.82dup (p.Glu28fs)
|
|
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
|
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
|
rs1555622008
|
|
|
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
|
|
|
|
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs)
|
rs756865833
|
|
|
NM_000263.4(NAGLU):c.843G>C (p.Leu281=)
|
rs2143098501
|
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
|
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
|
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
|
NM_000263.4(NAGLU):c.867del (p.Ile290fs)
|
rs1555622019
|
|
|
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
|
|
|
|
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu)
|
rs1209988199
|
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
|
NM_000263.4(NAGLU):c.87G>A (p.Ala29=)
|
rs2092905997
|
|
|
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
|
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
|
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
|
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
|
NM_000263.4(NAGLU):c.888G>A (p.Leu296=)
|
rs2143098928
|
|
|
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
|
rs2143098987
|
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
|
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
|
|
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs)
|
rs2092920511
|
|
|
NM_000263.4(NAGLU):c.90G>A (p.Ala30=)
|
rs2143075591
|
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
|
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His)
|
rs2143099180
|
|
|
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys)
|
rs1305299665
|
|
|
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe)
|
rs1305299665
|
|
|
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
|
rs1599258507
|
|
|
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
|
|
|
|
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
|
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
|
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
|
rs115888189
|
|
|
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
|
|
|
|
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
|
|
|
|
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
|
|
|
|
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
|
|
|
|
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val)
|
rs104894600
|
|
|
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser)
|
rs1181487342
|
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
|
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs)
|
rs2143099555
|
|
|
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
|
|
|
|
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
|
rs2143099579
|
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
|
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)
|
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
|
NM_000263.4(NAGLU):c.963C>A (p.Ser321=)
|
rs760910696
|
|
|
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
|
|
|
|
NM_000263.4(NAGLU):c.969G>A (p.Glu323=)
|
rs1474272372
|
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
|
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
|
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_000263.4(NAGLU):c.987A>G (p.Ala329=)
|
rs2143099825
|
|
|
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
|
|
|
|
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
|
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|
|
NM_000263.4(NAGLU):c.996T>C (p.Thr332=)
|
rs764483473
|
|
|
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)
|
|
|
|
NM_000263.4(NAGLU):c.99G>A (p.Arg33=)
|
rs2143075635
|
|
|
NM_000263.4(NAGLU):c.9G>A (p.Ala3=)
|
rs1366797084
|
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
|
NM_000284.4(PDHA1):c.*1013C>A
|
rs1042456
|
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
|
NM_000284.4(PDHA1):c.*110C>T
|
rs709610
|
|
|
NM_000284.4(PDHA1):c.*1624T>C
|
rs2063283398
|
|
|
NM_000284.4(PDHA1):c.*198G>A
|
rs1003909173
|
|
|
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=)
|
rs764728647
|
|
|
NM_000284.4(PDHA1):c.*525C>G
|
rs778207227
|
|
|
NM_000284.4(PDHA1):c.*79_*90dup
|
rs1555935690
|
|
|
NM_000284.4(PDHA1):c.1008+17A>G
|
|
|
|
NM_000284.4(PDHA1):c.1008+18T>C
|
|
|
|
NM_000284.4(PDHA1):c.1008+4C>T
|
|
|
|
NM_000284.4(PDHA1):c.1008+6_1008+14dup
|
rs2147187474
|
|
|
NM_000284.4(PDHA1):c.1008+6_1008+28dup
|
rs1455097408
|
|
|
NM_000284.4(PDHA1):c.1008+6_1008+9dup
|
rs2147187465
|
|
|
NM_000284.4(PDHA1):c.1008+9_1008+17dup
|
rs1569193552
|
|
|
NM_000284.4(PDHA1):c.1008+9_1008+18dup
|
|
|
|
NM_000284.4(PDHA1):c.1009-11C>T
|
|
|
|
NM_000284.4(PDHA1):c.1009-12_1009-9dup
|
|
|
|
NM_000284.4(PDHA1):c.1009-14T>C
|
|
|
|
NM_000284.4(PDHA1):c.1009-16G>A
|
|
|
|
NM_000284.4(PDHA1):c.1009-16G>T
|
|
|
|
NM_000284.4(PDHA1):c.1009-16_1009-14dup
|
|
|
|
NM_000284.4(PDHA1):c.1009-16_1010del
|
rs2147188973
|
|
|
NM_000284.4(PDHA1):c.1009-17_1009-12del
|
|
|
|
NM_000284.4(PDHA1):c.1009-17_1009-14dup
|
rs1569193999
|
|
|
NM_000284.4(PDHA1):c.1009-18C>A
|
|
|
|
NM_000284.4(PDHA1):c.1009-18_1009-10del
|
|
|
|
NM_000284.4(PDHA1):c.1009-28_1009-8del
|
rs2147188873
|
|
|
NM_000284.4(PDHA1):c.1009-31_1009-15del
|
|
|
|
NM_000284.4(PDHA1):c.1009-31_1009-7del
|
rs1569193972
|
|
|
NM_000284.4(PDHA1):c.1009-9_1009-6dup
|
|
|
|
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
|
|
|
|
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
|
rs2063244761
|
|
|
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
|
|
|
|
NM_000284.4(PDHA1):c.1026G>A (p.Val342=)
|
|
|
|
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)
|
rs1569194036
|
|
|
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
|
rs1244401639
|
|
|
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
|
|
|
|
NM_000284.4(PDHA1):c.1034_1037dup (p.Glu347fs)
|
rs1555935473
|
|
|
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
|
|
|
|
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
|
rs2063245185
|
|
|
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
|
rs2147189069
|
|
|
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
|
|
|
|
NM_000284.4(PDHA1):c.1043_1053del (p.Asp348fs)
|
|
|
|
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)
|
rs886044701
|
|
|
NM_000284.4(PDHA1):c.1050C>T (p.Ala350=)
|
rs2147189097
|
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
|
NM_000284.4(PDHA1):c.105A>G (p.Thr35=)
|
|
|
|
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)
|
rs1157736285
|
|
|
NM_000284.4(PDHA1):c.1065C>A (p.Ala355=)
|
|
|
|
NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs)
|
rs606231187
|
|
|
NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup)
|
rs606231191
|
|
|
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
|
|
|
|
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
|
rs2063246734
|
|
|
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr)
|
rs1602232961
|
|
|
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)
|
rs1131691584
|
|
|
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
|
|
|
|
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
|
|
|
|
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
|
rs1602233040
|
|
|
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)
|
rs863224147
|
|
|
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)
|
rs137853250
|
|
|
NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)
|
rs2147189315
|
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
|
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)
|
rs2063247814
|
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
|
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
|
|
|
|
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
|
|
|
|
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)
|
rs767675495
|
|
|
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)
|
|
|
|
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)
|
|
|
|
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
|
|
|
|
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
|
|
|
|
NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs)
|
rs606231186
|
|
|
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)
|
rs863224156
|
|
|
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)
|
|
|
|
NM_000284.4(PDHA1):c.1167_1170del (p.Ser390fs)
|
rs606231184
|
|
|
NM_000284.4(PDHA1):c.1169_1172dup (p.Ter391=)
|
|
|
|
NM_000284.4(PDHA1):c.117+15A>G
|
|
|
|
NM_000284.4(PDHA1):c.117+17T>G
|
|
|
|
NM_000284.4(PDHA1):c.117+7G>A
|
rs1232550777
|
|
|
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)
|
rs1555935577
|
|
|
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)
|
rs762505127
|
|
|
NM_000284.4(PDHA1):c.118-13T>A
|
|
|
|
NM_000284.4(PDHA1):c.118-8C>A
|
rs774137227
|
|
|
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
|
|
|
|
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
|
|
|
|
NM_000284.4(PDHA1):c.147C>T (p.Gly49=)
|
rs1555933449
|
|
|
NM_000284.4(PDHA1):c.15C>T (p.Leu5=)
|
rs1203110648
|
|
|
NM_000284.4(PDHA1):c.162A>C (p.Thr54=)
|
rs1602223801
|
|
|
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)
|
rs1031411207
|
|
|
NM_000284.4(PDHA1):c.18C>T (p.Ala6=)
|
rs1275009783
|
|
|
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)
|
rs2147174737
|
|
|
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
|
|
|
|
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
|
|
|
|
NM_000284.4(PDHA1):c.196A>C (p.Arg66=)
|
|
|
|
NM_000284.4(PDHA1):c.211G>A (p.Val71Ile)
|
|
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
|
NM_000284.4(PDHA1):c.21C>G (p.Ala7=)
|
|
|
|
NM_000284.4(PDHA1):c.225G>A (p.Glu75=)
|
rs1569190079
|
|
|
NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)
|
rs1569190079
|
|
|
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)
|
rs2147174771
|
|
|
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
|
|
|
|
NM_000284.4(PDHA1):c.240G>A (p.Gln80=)
|
rs1602223831
|
|
|
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
|
|
|
|
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)
|
|
|
|
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)
|
rs1569190092
|
|
|
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
|
rs2147174805
|
|
|
NM_000284.4(PDHA1):c.291+1_418+1dup
|
|
|
|
NM_000284.4(PDHA1):c.291+8G>A
|
rs1022434857
|
|
|
NM_000284.4(PDHA1):c.292-16C>T
|
|
|
|
NM_000284.4(PDHA1):c.292-1G>A
|
rs863224149
|
|
|
NM_000284.4(PDHA1):c.292-7A>G
|
rs2147175965
|
|
|
NM_000284.4(PDHA1):c.292-8T>A
|
|
|
|
NM_000284.4(PDHA1):c.292-9C>T
|
rs371532584
|
|
|
NM_000284.4(PDHA1):c.294A>G (p.Glu98=)
|
|
|
|
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)
|
rs137853257
|
|
|
NM_000284.4(PDHA1):c.300C>T (p.Cys100=)
|
|
|
|
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)
|
rs1569190422
|
|
|
NM_000284.4(PDHA1):c.306G>T (p.Val102=)
|
rs2063161583
|
|
|
NM_000284.4(PDHA1):c.321C>T (p.Gly107=)
|
|
|
|
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)
|
rs2147176033
|
|
|
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
|
|
|
|
NM_000284.4(PDHA1):c.336C>T (p.Asp112=)
|
rs1294663884
|
|
|
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)
|
rs997748901
|
|
|
NM_000284.4(PDHA1):c.354C>T (p.Tyr118=)
|
|
|
|
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)
|
rs2147176072
|
|
|
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)
|
rs2063162028
|
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
|
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)
|
rs2063162114
|
|
|
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
|
|
|
|
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
|
|
|
|
NM_000284.4(PDHA1):c.405C>T (p.Leu135=)
|
|
|
|
NM_000284.4(PDHA1):c.418+8G>C
|
|
|
|
NM_000284.4(PDHA1):c.419-20G>A
|
|
|
|
NM_000284.4(PDHA1):c.419-20G>C
|
|
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
|
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)
|
rs1057518695
|
|
|
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)
|
rs1555933946
|
|
|
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
|
rs1268555913
|
|
|
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)
|
rs1555933954
|
|
|
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)
|
rs1358837850
|
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
|
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
|
|
|
|
NM_000284.4(PDHA1):c.46del (p.Ser16fs)
|
rs2147168716
|
|
|
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
|
|
|
|
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)
|
rs1569190962
|
|
|
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)
|
rs398123300
|
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
|
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)
|
rs2147178249
|
|
|
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)
|
rs2063174067
|
|
|
NM_000284.4(PDHA1):c.501G>C (p.Val167=)
|
rs2147178257
|
|
|
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)
|
rs863224150
|
|
|
NM_000284.4(PDHA1):c.510+13G>A
|
|
|
|
NM_000284.4(PDHA1):c.510+18T>C
|
|
|
|
NM_000284.4(PDHA1):c.511-12C>T
|
|
|
|
NM_000284.4(PDHA1):c.511-19C>T
|
|
|
|
NM_000284.4(PDHA1):c.511-5G>A
|
rs2063182597
|
|
|
NM_000284.4(PDHA1):c.511-6_511-3dup
|
rs2147179692
|
|
|
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
|
|
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
|
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)
|
|
|
|
NM_000284.4(PDHA1):c.516C>T (p.Pro172=)
|
|
|
|
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
|
|
|
|
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)
|
rs1569191372
|
|
|
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
|
rs2063182775
|
|
|
NM_000284.4(PDHA1):c.534T>C (p.Ala178=)
|
|
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
|
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
|
rs1555934165
|
|
|
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)
|
rs1555934165
|
|
|
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)
|
rs2147179754
|
|
|
NM_000284.4(PDHA1):c.54G>A (p.Lys18=)
|
rs1383593536
|
|
|
NM_000284.4(PDHA1):c.552T>C (p.Asn184=)
|
|
|
|
NM_000284.4(PDHA1):c.558A>G (p.Lys186=)
|
rs2147179763
|
|
|
NM_000284.4(PDHA1):c.567C>G (p.Val189=)
|
|
|
|
NM_000284.4(PDHA1):c.57+11C>G
|
rs1381469880
|
|
|
NM_000284.4(PDHA1):c.57+16C>T
|
|
|
|
NM_000284.4(PDHA1):c.57+17G>A
|
|
|
|
NM_000284.4(PDHA1):c.57+17G>C
|
|
|
|
NM_000284.4(PDHA1):c.57+2505C>G
|
|
|
|
NM_000284.4(PDHA1):c.57+2531T>C
|
rs2063135938
|
|
|
NM_000284.4(PDHA1):c.57+7C>T
|
|
|
|
NM_000284.4(PDHA1):c.57+8C>A
|
|
|
|
NM_000284.4(PDHA1):c.579A>G (p.Leu193=)
|
rs2147179786
|
|
|
NM_000284.4(PDHA1):c.58-18A>C
|
|
|
|
NM_000284.4(PDHA1):c.58-1G>A
|
rs1569189834
|
|
|
NM_000284.4(PDHA1):c.58-4T>C
|
rs2147174061
|
|
|
NM_000284.4(PDHA1):c.58-8C>T
|
|
|
|
NM_000284.4(PDHA1):c.603+8T>G
|
|
|
|
NM_000284.4(PDHA1):c.603+9G>A
|
|
|
|
NM_000284.4(PDHA1):c.604-14G>A
|
rs377192586
|
|
|
NM_000284.4(PDHA1):c.604-14G>C
|
|
|
|
NM_000284.4(PDHA1):c.604-14G>T
|
|
|
|
NM_000284.4(PDHA1):c.604-15C>G
|
|
|
|
NM_000284.4(PDHA1):c.604-19T>G
|
|
|
|
NM_000284.4(PDHA1):c.604-4C>G
|
|
|
|
NM_000284.4(PDHA1):c.604-8A>G
|
rs2147180716
|
|
|
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)
|
|
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
|
NM_000284.4(PDHA1):c.615C>T (p.Phe205=)
|
|
|
|
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)
|
|
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
|
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)
|
rs794727843
|
|
|
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)
|
rs2147180753
|
|
|
NM_000284.4(PDHA1):c.639G>A (p.Leu213=)
|
rs2147180760
|
|
|
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
|
|
|
|
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)
|
rs1569191659
|
|
|
NM_000284.4(PDHA1):c.645A>G (p.Lys215=)
|
|
|
|
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)
|
rs121917898
|
|
|
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)
|
|
|
|
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)
|
rs1057518756
|
|
|
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)
|
rs2147180826
|
|
|
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)
|
rs2147180839
|
|
|
NM_000284.4(PDHA1):c.681T>C (p.Tyr227=)
|
|
|
|
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)
|
rs2147180851
|
|
|
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)
|
rs2063189233
|
|
|
NM_000284.4(PDHA1):c.688_700del (p.Gly230fs)
|
|
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
|
NM_000284.4(PDHA1):c.693G>C (p.Thr231=)
|
rs138237215
|
|
|
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)
|
rs138237215
|
|
|
NM_000284.4(PDHA1):c.696T>A (p.Ser232=)
|
|
|
|
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
|
rs863224145
|
|
|
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)
|
rs750307419
|
|
|
NM_000284.4(PDHA1):c.708G>T (p.Ala236=)
|
rs750307419
|
|
|
NM_000284.4(PDHA1):c.717C>T (p.Ser239=)
|
|
|
|
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)
|
rs137853255
|
|
|
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)
|
rs2147180935
|
|
|
NM_000284.4(PDHA1):c.729C>T (p.Tyr243=)
|
rs2147180937
|
|
|
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)
|
rs2147180959
|
|
|
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
|
|
|
|
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)
|
rs1555934379
|
|
|
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
|
rs2063189797
|
|
|
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
|
rs1602227679
|
|
|
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)
|
rs768600287
|
|
|
NM_000284.4(PDHA1):c.759+11C>G
|
|
|
|
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
|
|
|
|
NM_000284.4(PDHA1):c.759+21dup
|
|
|
|
NM_000284.4(PDHA1):c.759+26G>A
|
rs1555934413
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[2]
|
rs11278403
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[4]
|
rs11278403
|
|
|
NM_000284.4(PDHA1):c.759+26GGCCAA[5]
|
|
|
|
NM_000284.4(PDHA1):c.759+34_759+45del
|
rs11278403
|
|
|
NM_000284.4(PDHA1):c.759+8C>T
|
rs1251981151
|
|
|
NM_000284.4(PDHA1):c.759+9del
|
rs1602227706
|
|
|
NM_000284.4(PDHA1):c.760-11T>C
|
|
|
|
NM_000284.4(PDHA1):c.760-12_760-9dup
|
|
|
|
NM_000284.4(PDHA1):c.760-13T>C
|
|
|
|
NM_000284.4(PDHA1):c.760-13T>G
|
|
|
|
NM_000284.4(PDHA1):c.760-14_760-13del
|
|
|
|
NM_000284.4(PDHA1):c.760-14dup
|
|
|
|
NM_000284.4(PDHA1):c.760-18T>G
|
|
|
|
NM_000284.4(PDHA1):c.760-19C>A
|
|
|
|
NM_000284.4(PDHA1):c.760-19C>T
|
|
|
|
NM_000284.4(PDHA1):c.760-5A>T
|
|
|
|
NM_000284.4(PDHA1):c.760-8_760-5dup
|
|
|
|
NM_000284.4(PDHA1):c.765T>C (p.Asp255=)
|
rs1602227938
|
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
|
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
|
|
|
|
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)
|
rs137853253
|
|
|
NM_000284.4(PDHA1):c.778C>T (p.Leu260=)
|
|
|
|
NM_000284.4(PDHA1):c.780G>C (p.Leu260=)
|
|
|
|
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)
|
rs1569191865
|
|
|
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
|
|
|
|
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)
|
rs137853259
|
|
|
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)
|
rs137853259
|
|
|
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)
|
rs2063192428
|
|
|
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
|
|
|
|
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
|
|
|
|
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)
|
rs1569191879
|
|
|
NM_000284.4(PDHA1):c.807T>C (p.Ala269=)
|
rs2063192689
|
|
|
NM_000284.4(PDHA1):c.813C>T (p.Ala271=)
|
rs1602228001
|
|
|
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)
|
rs2147181545
|
|
|
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
|
rs2063192867
|
|
|
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)
|
rs1602228017
|
|
|
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)
|
rs2147181559
|
|
|
NM_000284.4(PDHA1):c.831+16C>T
|
|
|
|
NM_000284.4(PDHA1):c.831+18T>G
|
|
|
|
NM_000284.4(PDHA1):c.831+7C>T
|
|
|
|
NM_000284.4(PDHA1):c.831+8T>G
|
rs2147181572
|
|
|
NM_000284.4(PDHA1):c.832-14C>G
|
|
|
|
NM_000284.4(PDHA1):c.832-14C>T
|
|
|
|
NM_000284.4(PDHA1):c.832-6T>C
|
rs2063212957
|
|
|
NM_000284.4(PDHA1):c.832-7_832-4dup
|
|
|
|
NM_000284.4(PDHA1):c.832-9_832-8del
|
|
|
|
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)
|
rs1057521993
|
|
|
NM_000284.4(PDHA1):c.837C>T (p.Pro279=)
|
|
|
|
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
|
rs1602229682
|
|
|
NM_000284.4(PDHA1):c.844A>T (p.Met282Leu)
|
|
|
|
NM_000284.4(PDHA1):c.852G>T (p.Leu284=)
|
|
|
|
NM_000284.4(PDHA1):c.858_861dup (p.Arg288fs)
|
rs1555934859
|
|
|
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)
|
rs1057521179
|
|
|
NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs)
|
rs606231190
|
|
|
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)
|
rs2063213272
|
|
|
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)
|
rs137853258
|
|
|
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
|
rs1418512491
|
|
|
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)
|
rs2147184502
|
|
|
NM_000284.4(PDHA1):c.874_881dup (p.Met294fs)
|
rs2063213396
|
|
|
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)
|
rs2147184530
|
|
|
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)
|
rs2147184540
|
|
|
NM_000284.4(PDHA1):c.899+15A>C
|
|
|
|
NM_000284.4(PDHA1):c.899+15A>G
|
|
|
|
NM_000284.4(PDHA1):c.899+2T>A
|
rs2063213491
|
|
|
NM_000284.4(PDHA1):c.899+2T>C
|
|
|
|
NM_000284.4(PDHA1):c.899+9A>C
|
rs751604605
|
|
|
NM_000284.4(PDHA1):c.899+9A>G
|
rs751604605
|
|
|
NM_000284.4(PDHA1):c.900-10C>T
|
rs370163447
|
|
|
NM_000284.4(PDHA1):c.900-10del
|
|
|
|
NM_000284.4(PDHA1):c.900-12_936dup
|
|
|
|
NM_000284.4(PDHA1):c.900-16T>C
|
|
|
|
NM_000284.4(PDHA1):c.900-18_900-14dup
|
|
|
|
NM_000284.4(PDHA1):c.900-18_900-15dup
|
|
|
|
NM_000284.4(PDHA1):c.900-3_917dup
|
rs606231188
|
|
|
NM_000284.4(PDHA1):c.900-4A>C
|
rs1262041210
|
|
|
NM_000284.4(PDHA1):c.900-4A>G
|
|
|
|
NM_000284.4(PDHA1):c.900-8C>G
|
|
|
|
NM_000284.4(PDHA1):c.902_907del (p.Tyr301_Thr303delinsSer)
|
rs2147187199
|
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
|
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)
|
rs1064794149
|
|
|
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)
|
rs1602231489
|
|
|
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
|
|
|
|
NM_000284.4(PDHA1):c.918_927dup (p.Val310fs)
|
rs2063232292
|
|
|
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)
|
rs1555935223
|
|
|
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
|
|
|
|
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)
|
rs606231185
|
|
|
NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)
|
rs1602231539
|
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|
|
NM_000284.4(PDHA1):c.937_940dup (p.Ser314fs)
|
rs137853251
|
|
|
NM_000284.4(PDHA1):c.938_940del (p.Lys313del)
|
rs137853251
|
|
|
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)
|
rs137853256
|
|
|
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
|
|
|
|
NM_000284.4(PDHA1):c.949_952dup (p.Met318fs)
|
rs2063232824
|
|
|
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
|
|
|
|
NM_000284.4(PDHA1):c.956_959dup (p.Lys321fs)
|
|
|
|
NM_000284.4(PDHA1):c.960C>T (p.Leu320=)
|
|
|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
|
rs2063233021
|
|
|
NM_000284.4(PDHA1):c.966C>T (p.Asp322=)
|
|
|
|
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
|
rs779045292
|
|
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
|
|
|
|
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
|
|
|
|
NM_000284.4(PDHA1):c.990C>T (p.Ala330=)
|
|
|
|
NM_000284.4(PDHA1):c.991_1003dup (p.Leu335fs)
|
|
|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
|
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
|
NM_000289.6(PFKM):c.*163G>A
|
rs370250637
|
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
|
NM_000289.6(PFKM):c.-8-2A>G
|
|
|
|
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
|
|
|
|
NM_000289.6(PFKM):c.1017T>C (p.Ser339=)
|
rs2135957213
|
|
|
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
|
rs2135957243
|
|
|
NM_000289.6(PFKM):c.1023C>T (p.Asn341=)
|
rs2135957291
|
|
|
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
|
|
|
|
NM_000289.6(PFKM):c.1029T>A (p.Ala343=)
|
rs2135957401
|
|
|
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
|
|
|
|
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
|
rs1329869497
|
|
|
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
|
|
|
|
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
|
|
|
|
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
|
|
|
|
NM_000289.6(PFKM):c.103dup (p.Arg35fs)
|
|
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
|
NM_000289.6(PFKM):c.1053del (p.Cys351fs)
|
|
|
|
NM_000289.6(PFKM):c.1057C>T (p.Gln353Ter)
|
|
|
|
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
|
|
|
|
NM_000289.6(PFKM):c.1062+14C>T
|
|
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
|
|
|
NM_000289.6(PFKM):c.1062+20C>T
|
|
|
|
NM_000289.6(PFKM):c.1062+2T>C
|
rs2135957798
|
|
|
NM_000289.6(PFKM):c.1062+8C>T
|
|
|
|
NM_000289.6(PFKM):c.1062+9T>C
|
|
|
|
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
|
|
|
|
NM_000289.6(PFKM):c.1063-10C>A
|
|
|
|
NM_000289.6(PFKM):c.1063-10C>T
|
|
|
|
NM_000289.6(PFKM):c.1063-18G>C
|
|
|
|
NM_000289.6(PFKM):c.1063-20T>A
|
|
|
|
NM_000289.6(PFKM):c.1063-5del
|
|
|
|
NM_000289.6(PFKM):c.1063-5dup
|
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
|
NM_000289.6(PFKM):c.1063-6C>T
|
rs371033104
|
|
|
NM_000289.6(PFKM):c.1063-7C>A
|
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
|
NM_000289.6(PFKM):c.1063-8C>T
|
|
|
|
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
|
|
|
|
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
|
rs2135975682
|
|
|
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
|
|
|
|
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
|
|
|
|
NM_000289.6(PFKM):c.108T>C (p.Ala36=)
|
rs1949346132
|
|
|
NM_000289.6(PFKM):c.1091del (p.Glu364fs)
|
|
|
|
NM_000289.6(PFKM):c.1113G>A (p.Leu371=)
|
rs2135976209
|
|
|
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
|
rs1950380994
|
|
|
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
|
|
|
|
NM_000289.6(PFKM):c.1127+10T>A
|
|
|
|
NM_000289.6(PFKM):c.1127+14G>A
|
|
|
|
NM_000289.6(PFKM):c.1127+19G>A
|
|
|
|
NM_000289.6(PFKM):c.1127+19G>T
|
|
|
|
NM_000289.6(PFKM):c.1127+1G>T
|
rs2135976459
|
|
|
NM_000289.6(PFKM):c.1127+6G>T
|
|
|
|
NM_000289.6(PFKM):c.1127+7A>G
|
rs2135976553
|
|
|
NM_000289.6(PFKM):c.1127+8G>A
|
rs2135976581
|
|
|
NM_000289.6(PFKM):c.1127+9A>C
|
rs2135976634
|
|
|
NM_000289.6(PFKM):c.1128-10C>A
|
rs2135982206
|
|
|
NM_000289.6(PFKM):c.1128-10C>T
|
rs2135982206
|
|
|
NM_000289.6(PFKM):c.1128-15T>C
|
|
|
|
NM_000289.6(PFKM):c.1128-16T>A
|
|
|
|
NM_000289.6(PFKM):c.1128-17A>G
|
|
|
|
NM_000289.6(PFKM):c.1128-18T>C
|
|
|
|
NM_000289.6(PFKM):c.1128-19_1128-16del
|
|
|
|
NM_000289.6(PFKM):c.1128-2A>G
|
|
|
|
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
|
|
|
|
NM_000289.6(PFKM):c.114T>C (p.Val38=)
|
|
|
|
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
|
|
|
|
NM_000289.6(PFKM):c.1159del (p.Leu387fs)
|
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
|
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
|
rs1950427025
|
|
|
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
|
rs2135982704
|
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
|
NM_000289.6(PFKM):c.116G>T (p.Arg39Leu)
|
rs121918193
|
|
|
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
|
|
|
|
NM_000289.6(PFKM):c.1182G>A (p.Pro394=)
|
rs372189049
|
|
|
NM_000289.6(PFKM):c.1191+11G>T
|
|
|
|
NM_000289.6(PFKM):c.1191+12T>G
|
rs2135983216
|
|
|
NM_000289.6(PFKM):c.1191+13T>G
|
|
|
|
NM_000289.6(PFKM):c.1191+3A>G
|
|
|
|
NM_000289.6(PFKM):c.1192-10T>C
|
|
|
|
NM_000289.6(PFKM):c.1192-11C>T
|
|
|
|
NM_000289.6(PFKM):c.1192-12C>G
|
|
|
|
NM_000289.6(PFKM):c.1192-19C>T
|
|
|
|
NM_000289.6(PFKM):c.1192-2A>G
|
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
|
NM_000289.6(PFKM):c.1192-6G>C
|
|
|
|
NM_000289.6(PFKM):c.1192-9C>T
|
|
|
|
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
|
|
|
|
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
|
|
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
|
|
|
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
|
|
|
|
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
|
|
|
|
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
|
rs764231757
|
|
|
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
|
rs762040245
|
|
|
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
|
|
|
|
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
|
|
|
|
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
|
|
|
|
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
|
|
|
|
NM_000289.6(PFKM):c.1254T>G (p.Ala418=)
|
rs1592789513
|
|
|
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile)
|
rs1266995508
|
|
|
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
|
|
|
|
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
|
|
|
|
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
|
|
|
|
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
|
|
|
|
NM_000289.6(PFKM):c.1293C>T (p.Asn431=)
|
rs1325830143
|
|
|
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
|
rs374824469
|
|
|
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
|
|
|
|
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
|
rs1217619963
|
|
|
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
|
|
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
|
NM_000289.6(PFKM):c.1338del (p.Gln447fs)
|
rs2135995131
|
|
|
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
|
|
|
|
NM_000289.6(PFKM):c.1341+1G>A
|
|
|
|
NM_000289.6(PFKM):c.1341+1G>C
|
|
|
|
NM_000289.6(PFKM):c.1341+1G>T
|
rs755419857
|
|
|
NM_000289.6(PFKM):c.1341+8del
|
rs2135995386
|
|
|
NM_000289.6(PFKM):c.1342-13C>T
|
|
|
|
NM_000289.6(PFKM):c.1342-15G>A
|
|
|
|
NM_000289.6(PFKM):c.1342-1G>C
|
|
|
|
NM_000289.6(PFKM):c.1342-7C>T
|
rs1592793920
|
|
|
NM_000289.6(PFKM):c.1342-8C>T
|
|
|
|
NM_000289.6(PFKM):c.1342-9del
|
rs2136000813
|
|
|
NM_000289.6(PFKM):c.1344_1345insAA (p.Glu449fs)
|
|
|
|
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
|
rs1383781379
|
|
|
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
|
|
|
|
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
|
|
|
|
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
|
|
|
|
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
|
|
|
|
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
|
|
|
|
NM_000289.6(PFKM):c.1412+11C>G
|
|
|
|
NM_000289.6(PFKM):c.1412+14C>T
|
|
|
|
NM_000289.6(PFKM):c.1412+16G>T
|
|
|
|
NM_000289.6(PFKM):c.1412+17A>C
|
|
|
|
NM_000289.6(PFKM):c.1412+19G>T
|
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
|
|
|
NM_000289.6(PFKM):c.1412+20C>T
|
|
|
|
NM_000289.6(PFKM):c.1412+2T>C
|
|
|
|
NM_000289.6(PFKM):c.1412+9C>T
|
rs2136001614
|
|
|
NM_000289.6(PFKM):c.1413-16A>G
|
|
|
|
NM_000289.6(PFKM):c.1413-19G>A
|
|
|
|
NM_000289.6(PFKM):c.1413-58C>A
|
rs78496902
|
|
|
NM_000289.6(PFKM):c.1413-5A>T
|
rs2136006212
|
|
|
NM_000289.6(PFKM):c.1413-64A>G
|
rs1202417178
|
|
|
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
|
rs1950594557
|
|
|
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
|
rs1950594770
|
|
|
NM_000289.6(PFKM):c.1426A>T (p.Lys476Ter)
|
|
|
|
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
|
|
|
|
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
|
|
|
|
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
|
rs2136006513
|
|
|
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
|
|
|
|
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
|
|
|
|
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
|
|
|
|
NM_000289.6(PFKM):c.1458dup (p.Lys487Ter)
|
|
|
|
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
|
|
|
|
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
|
|
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
|
|
|
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
|
|
|
|
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
|
|
|
|
NM_000289.6(PFKM):c.1500+14A>G
|
|
|
|
NM_000289.6(PFKM):c.1500+15C>T
|
|
|
|
NM_000289.6(PFKM):c.1500+2T>A
|
|
|
|
NM_000289.6(PFKM):c.1500+9C>T
|
rs1315594001
|
|
|
NM_000289.6(PFKM):c.1501-12TCT[2]
|
rs1230657170
|
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
|
NM_000289.6(PFKM):c.1501-5C>A
|
|
|
|
NM_000289.6(PFKM):c.1501-8C>T
|
|
|
|
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
|
rs1421392490
|
|
|
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
|
rs1421392490
|
|
|
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=)
|
rs2136008624
|
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
|
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val)
|
rs774891977
|
|
|
NM_000289.6(PFKM):c.1521A>G (p.Glu507=)
|
rs1592800238
|
|
|
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
|
|
|
|
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
|
|
|
|
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
|
|
|
|
NM_000289.6(PFKM):c.1563A>G (p.Pro521=)
|
rs2136009337
|
|
|
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
|
|
|
|
NM_000289.6(PFKM):c.156T>C (p.His52=)
|
|
|
|
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
|
|
|
|
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
|
rs1406744971
|
|
|
NM_000289.6(PFKM):c.159+11T>C
|
|
|
|
NM_000289.6(PFKM):c.159+14T>C
|
|
|
|
NM_000289.6(PFKM):c.159+16T>C
|
|
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
|
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
|
|
|
|
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
|
rs1308260209
|
|
|
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
|
|
|
|
NM_000289.6(PFKM):c.160-11G>A
|
|
|
|
NM_000289.6(PFKM):c.160-13A>C
|
|
|
|
NM_000289.6(PFKM):c.160-13A>G
|
|
|
|
NM_000289.6(PFKM):c.160-13A>T
|
|
|
|
NM_000289.6(PFKM):c.160-14A>G
|
|
|
|
NM_000289.6(PFKM):c.160-16A>G
|
|
|
|
NM_000289.6(PFKM):c.160-18G>A
|
|
|
|
NM_000289.6(PFKM):c.160-1G>C
|
|
|
|
NM_000289.6(PFKM):c.160-4A>G
|
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
|
|
|
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
|
|
|
|
NM_000289.6(PFKM):c.1626T>C (p.Ala542=)
|
rs2136010141
|
|
|
NM_000289.6(PFKM):c.1632A>G (p.Thr544=)
|
rs2136010299
|
|
|
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
|
|
|
|
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
|
rs780042405
|
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
|
NM_000289.6(PFKM):c.1653+12T>A
|
|
|
|
NM_000289.6(PFKM):c.1653+15C>T
|
|
|
|
NM_000289.6(PFKM):c.1653+19T>C
|
|
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
|
NM_000289.6(PFKM):c.1653+7G>A
|
|
|
|
NM_000289.6(PFKM):c.1653+8C>G
|
rs369425921
|
|
|
NM_000289.6(PFKM):c.1653+9C>A
|
rs1442520537
|
|
|
NM_000289.6(PFKM):c.1654-20A>G
|
|
|
|
NM_000289.6(PFKM):c.1654-54_1654-46del
|
|
|
|
NM_000289.6(PFKM):c.1654-5T>C
|
|
|
|
NM_000289.6(PFKM):c.1654-7C>T
|
|
|
|
NM_000289.6(PFKM):c.1656del (p.Cys553fs)
|
|
|
|
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
|
rs2136019328
|
|
|
NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)
|
rs2135856711
|
|
|
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
|
|
|
|
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
|
rs2136019645
|
|
|
NM_000289.6(PFKM):c.1704del (p.Phe568fs)
|
rs2136019667
|
|
|
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
|
|
|
|
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
|
|
|
|
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
|
|
|
|
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
|
|
|
|
NM_000289.6(PFKM):c.171C>A (p.Gly57=)
|
rs1949456909
|
|
|
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
|
|
|
|
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
|
|
|
|
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
|
|
|
|
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
|
|
|
|
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
|
|
|
|
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
|
|
|
|
NM_000289.6(PFKM):c.1746C>T (p.Thr582=)
|
rs2136020208
|
|
|
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
|
|
|
|
NM_000289.6(PFKM):c.1761del (p.Ala588fs)
|
rs2136020407
|
|
|
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
|
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
|
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
|
|
|
|
NM_000289.6(PFKM):c.1779C>G (p.Ala593=)
|
rs1592808888
|
|
|
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
|
|
|
|
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
|
|
|
|
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
|
|
|
|
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
|
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
|
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
|
|
|
|
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
|
|
|
|
NM_000289.6(PFKM):c.1818+13C>A
|
|
|
|
NM_000289.6(PFKM):c.1818+15A>G
|
|
|
|
NM_000289.6(PFKM):c.1818+17del
|
|
|
|
NM_000289.6(PFKM):c.1818+19C>A
|
|
|
|
NM_000289.6(PFKM):c.1819-9C>A
|
rs755585302
|
|
|
NM_000289.6(PFKM):c.1819-9C>G
|
|
|
|
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
|
|
|
|
NM_000289.6(PFKM):c.1827del (p.Glu610fs)
|
|
|
|
NM_000289.6(PFKM):c.1828_1834del (p.Glu610fs)
|
|
|
|
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
|
rs2136032182
|
|
|
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
|
|
|
|
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
|
|
|
|
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
|
|
|
|
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
|
|
|
|
NM_000289.6(PFKM):c.186A>C (p.Gly62=)
|
rs750471184
|
|
|
NM_000289.6(PFKM):c.1875G>A (p.Val625=)
|
rs1321101853
|
|
|
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
|
|
|
|
NM_000289.6(PFKM):c.1876_1880+2del
|
|
|
|
NM_000289.6(PFKM):c.1880+11C>G
|
|
|
|
NM_000289.6(PFKM):c.1880+12A>G
|
|
|
|
NM_000289.6(PFKM):c.1880+13T>C
|
|
|
|
NM_000289.6(PFKM):c.1880+19G>C
|
|
|
|
NM_000289.6(PFKM):c.1880+19G>T
|
|
|
|
NM_000289.6(PFKM):c.1880+3A>G
|
|
|
|
NM_000289.6(PFKM):c.1880+5C>G
|
|
|
|
NM_000289.6(PFKM):c.1881-17del
|
|
|
|
NM_000289.6(PFKM):c.1881-8C>T
|
rs779486479
|
|
|
NM_000289.6(PFKM):c.1884T>C (p.Asn628=)
|
rs2136035977
|
|
|
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
|
|
|
|
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
|
|
|
|
NM_000289.6(PFKM):c.18C>T (p.His6=)
|
|
|
|
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
|
|
|
|
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
|
|
|
|
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
|
|
|
|
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
|
|
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
|
|
|
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
|
|
|
|
NM_000289.6(PFKM):c.1929_1933del (p.Leu643_Tyr644insTer)
|
rs1592818641
|
|
|
NM_000289.6(PFKM):c.192C>T (p.His64=)
|
rs2135857209
|
|
|
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
|
rs1950814614
|
|
|
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
|
|
|
|
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
|
|
|
|
NM_000289.6(PFKM):c.1941G>A (p.Glu647=)
|
rs2136036321
|
|
|
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
|
|
|
|
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
|
|
|
|
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
|
|
|
|
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
|
|
|
|
NM_000289.6(PFKM):c.1992+13C>G
|
|
|
|
NM_000289.6(PFKM):c.1992+13C>T
|
|
|
|
NM_000289.6(PFKM):c.1992+14C>A
|
|
|
|
NM_000289.6(PFKM):c.1992+14C>T
|
|
|
|
NM_000289.6(PFKM):c.1992+15G>A
|
|
|
|
NM_000289.6(PFKM):c.1992+17A>G
|
|
|
|
NM_000289.6(PFKM):c.1992+1G>T
|
|
|
|
NM_000289.6(PFKM):c.1992+20C>A
|
|
|
|
NM_000289.6(PFKM):c.1992+20C>T
|
|
|
|
NM_000289.6(PFKM):c.1993-16A>G
|
|
|
|
NM_000289.6(PFKM):c.1993-16_1993-15del
|
|
|
|
NM_000289.6(PFKM):c.1995T>C (p.Gly665=)
|
rs770758369
|
|
|
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
|
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
|
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
|
|
|
|
NM_000289.6(PFKM):c.2019G>A (p.Arg673=)
|
rs1950913988
|
|
|
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
|
|
|
|
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
|
|
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
|
|
|
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
|
|
|
|
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
|
|
|
|
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
|
|
|
|
NM_000289.6(PFKM):c.2047_2092+14del
|
|
|
|
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
|
rs2135857231
|
|
|
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
|
|
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
|
|
|
NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)
|
rs121918196
|
|
|
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
|
|
|
|
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
|
|
|
|
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
|
|
|
|
NM_000289.6(PFKM):c.2075_2076del (p.Lys692fs)
|
rs2136049056
|
|
|
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
|
|
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
|
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
|
|
|
|
NM_000289.6(PFKM):c.2092+10del
|
|
|
|
NM_000289.6(PFKM):c.2092+12G>A
|
|
|
|
NM_000289.6(PFKM):c.2092+18G>A
|
|
|
|
NM_000289.6(PFKM):c.2092+20G>A
|
|
|
|
NM_000289.6(PFKM):c.2092+2T>C
|
|
|
|
NM_000289.6(PFKM):c.2092+7G>A
|
rs2136049384
|
|
|
NM_000289.6(PFKM):c.2092+8G>A
|
rs2136049447
|
|
|
NM_000289.6(PFKM):c.2092+9G>A
|
rs371778846
|
|
|
NM_000289.6(PFKM):c.2093-33G>C
|
|
|
|
NM_000289.6(PFKM):c.2093-5T>C
|
rs2136050932
|
|
|
NM_000289.6(PFKM):c.2093-6T>C
|
|
|
|
NM_000289.6(PFKM):c.2093-7A>C
|
|
|
|
NM_000289.6(PFKM):c.2093-8C>T
|
|
|
|
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
|
|
|
|
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met)
|
rs2136051089
|
|
|
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
|
|
|
|
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile)
|
rs1950938419
|
|
|
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
|
|
|
|
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
|
|
|
|
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
|
rs2136051296
|
|
|
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
|
|
|
|
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
|
|
|
|
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
|
|
|
|
NM_000289.6(PFKM):c.2166A>G (p.Pro722=)
|
rs2136051603
|
|
|
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
|
|
|
|
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys)
|
rs1176082291
|
|
|
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
|
|
|
|
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
|
|
|
|
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
|
|
|
|
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
|
rs926218950
|
|
|
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
|
|
|
|
NM_000289.6(PFKM):c.2198+8C>T
|
|
|
|
NM_000289.6(PFKM):c.2198+9A>C
|
|
|
|
NM_000289.6(PFKM):c.2198+9A>G
|
|
|
|
NM_000289.6(PFKM):c.2199-15C>T
|
|
|
|
NM_000289.6(PFKM):c.2199-16C>T
|
|
|
|
NM_000289.6(PFKM):c.2199-5T>C
|
|
|
|
NM_000289.6(PFKM):c.2199-8C>T
|
|
|
|
NM_000289.6(PFKM):c.2199-9C>T
|
rs2136054913
|
|
|
NM_000289.6(PFKM):c.21T>C (p.His7=)
|
rs2137860144
|
|
|
NM_000289.6(PFKM):c.21dup (p.Ala8fs)
|
|
|
|
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
|
|
|
|
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
|
rs1165739164
|
|
|
NM_000289.6(PFKM):c.2217A>G (p.Glu739=)
|
rs1950977568
|
|
|
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
|
rs1950977797
|
|
|
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
|
|
|
|
NM_000289.6(PFKM):c.222G>T (p.Ser74=)
|
rs754074132
|
|
|
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
|
|
|
|
NM_000289.6(PFKM):c.2236A>C (p.Arg746=)
|
rs1592832534
|
|
|
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
|
|
|
|
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
|
rs1350195023
|
|
|
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
|
|
|
|
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
|
|
|
|
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
|
|
|
|
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
|
|
|
|
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
|
|
|
|
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
|
|
|
|
NM_000289.6(PFKM):c.2268G>A (p.Glu756=)
|
rs2136055950
|
|
|
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
|
|
|
|
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
|
rs1950983081
|
|
|
NM_000289.6(PFKM):c.2277G>A (p.Leu759=)
|
rs1430120826
|
|
|
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
|
rs1592832922
|
|
|
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
|
|
|
|
NM_000289.6(PFKM):c.2286A>G (p.Ser762=)
|
rs1592832978
|
|
|
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
|
|
|
|
NM_000289.6(PFKM):c.2298C>T (p.His766=)
|
|
|
|
NM_000289.6(PFKM):c.2307C>T (p.His769=)
|
|
|
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
|
|
|
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
|
|
|
|
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
|
|
|
|
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
|
rs2136056634
|
|
|
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
|
|
|
|
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
|
|
|
|
NM_000289.6(PFKM):c.2334T>A (p.Ala778=)
|
rs8716
|
|
|
NM_000289.6(PFKM):c.2337C>G (p.Ala779=)
|
rs748647298
|
|
|
NM_000289.6(PFKM):c.237+17T>C
|
|
|
|
NM_000289.6(PFKM):c.237+1G>C
|
rs202143236
|
|
|
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
|
|
|
|
NM_000289.6(PFKM):c.237+8C>T
|
|
|
|
NM_000289.6(PFKM):c.238-12C>T
|
|
|
|
NM_000289.6(PFKM):c.238-13A>G
|
|
|
|
NM_000289.6(PFKM):c.238-20G>A
|
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
|
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
|
|
|
|
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
|
|
|
|
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
|
|
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
|
NM_000289.6(PFKM):c.290del (p.Gly97fs)
|
|
|
|
NM_000289.6(PFKM):c.291A>C (p.Gly97=)
|
rs2135884772
|
|
|
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
|
|
|
|
NM_000289.6(PFKM):c.297C>T (p.Leu99=)
|
rs1181881387
|
|
|
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
|
rs2135885049
|
|
|
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
|
|
|
|
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
|
|
|
|
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
|
|
|
|
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
|
rs1592727517
|
|
|
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
|
|
|
|
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
|
|
|
|
NM_000289.6(PFKM):c.354T>C (p.Gly118=)
|
rs1187514309
|
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
|
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
|
|
|
|
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
|
rs2135886000
|
|
|
NM_000289.6(PFKM):c.369T>G (p.Thr123=)
|
rs1592727757
|
|
|
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
|
|
|
|
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
|
|
|
|
NM_000289.6(PFKM):c.381_385dup (p.Arg129fs)
|
rs2135886253
|
|
|
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
|
|
|
|
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
|
|
|
|
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
|
|
|
|
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
|
|
|
|
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
|
|
|
|
NM_000289.6(PFKM):c.427+17A>T
|
|
|
|
NM_000289.6(PFKM):c.427+20A>G
|
|
|
|
NM_000289.6(PFKM):c.427+9G>A
|
|
|
|
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
|
|
|
|
NM_000289.6(PFKM):c.428-10T>C
|
rs2135891586
|
|
|
NM_000289.6(PFKM):c.428-20G>C
|
|
|
|
NM_000289.6(PFKM):c.428-2A>C
|
rs895690691
|
|
|
NM_000289.6(PFKM):c.428-5G>T
|
|
|
|
NM_000289.6(PFKM):c.428-6T>C
|
rs2135891715
|
|
|
NM_000289.6(PFKM):c.428-7T>C
|
|
|
|
NM_000289.6(PFKM):c.428-9C>T
|
|
|
|
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
|
|
|
|
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
|
|
|
|
NM_000289.6(PFKM):c.438A>T (p.Thr146=)
|
rs2135892064
|
|
|
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
|
|
|
|
NM_000289.6(PFKM):c.453G>C (p.Thr151=)
|
rs144370737
|
|
|
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
|
|
|
|
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
|
|
|
|
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
|
|
|
|
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
|
|
|
|
NM_000289.6(PFKM):c.507C>T (p.Phe169=)
|
rs777395109
|
|
|
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
|
|
|
|
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
|
|
|
|
NM_000289.6(PFKM):c.534T>C (p.Thr178=)
|
rs146157053
|
|
|
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
|
|
|
|
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
|
rs1370905542
|
|
|
NM_000289.6(PFKM):c.549T>C (p.His183=)
|
|
|
|
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
|
|
|
|
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
|
|
|
|
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
|
rs976955357
|
|
|
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
|
|
|
|
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
|
rs1949732821
|
|
|
NM_000289.6(PFKM):c.573C>T (p.Ala191=)
|
rs2135894032
|
|
|
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
|
|
|
|
NM_000289.6(PFKM):c.582del (p.Thr195fs)
|
|
|
|
NM_000289.6(PFKM):c.589C>T (p.Gln197Ter)
|
|
|
|
NM_000289.6(PFKM):c.593+10C>G
|
rs1949737425
|
|
|
NM_000289.6(PFKM):c.593+12T>A
|
|
|
|
NM_000289.6(PFKM):c.593+15G>A
|
|
|
|
NM_000289.6(PFKM):c.593+18G>A
|
|
|
|
NM_000289.6(PFKM):c.593+18G>C
|
|
|
|
NM_000289.6(PFKM):c.593+8G>A
|
rs2135894357
|
|
|
NM_000289.6(PFKM):c.594-11A>G
|
|
|
|
NM_000289.6(PFKM):c.594-12T>C
|
|
|
|
NM_000289.6(PFKM):c.594-12dup
|
|
|
|
NM_000289.6(PFKM):c.594-13C>T
|
|
|
|
NM_000289.6(PFKM):c.594-14T>A
|
|
|
|
NM_000289.6(PFKM):c.594-16T>C
|
|
|
|
NM_000289.6(PFKM):c.594-17A>C
|
|
|
|
NM_000289.6(PFKM):c.594-17_594-16del
|
|
|
|
NM_000289.6(PFKM):c.594-18T>C
|
|
|
|
NM_000289.6(PFKM):c.594-19A>G
|
|
|
|
NM_000289.6(PFKM):c.594-1G>A
|
|
|
|
NM_000289.6(PFKM):c.594-20C>T
|
|
|
|
NM_000289.6(PFKM):c.594-4G>A
|
rs774807994
|
|
|
NM_000289.6(PFKM):c.594-5T>C
|
|
|
|
NM_000289.6(PFKM):c.594-7C>T
|
rs1458751002
|
|
|
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
|
|
|
|
NM_000289.6(PFKM):c.606A>G (p.Thr202=)
|
rs2135907037
|
|
|
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
|
|
|
|
NM_000289.6(PFKM):c.627C>A (p.Gly209=)
|
rs930544072
|
|
|
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
|
rs930544072
|
|
|
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
|
|
|
|
NM_000289.6(PFKM):c.631dup (p.His211fs)
|
|
|
|
NM_000289.6(PFKM):c.638+12A>C
|
|
|
|
NM_000289.6(PFKM):c.638+161C>T
|
rs2286021
|
|
|
NM_000289.6(PFKM):c.638+18A>C
|
|
|
|
NM_000289.6(PFKM):c.638+18A>G
|
|
|
|
NM_000289.6(PFKM):c.638+1G>T
|
|
|
|
NM_000289.6(PFKM):c.638+4A>G
|
|
|
|
NM_000289.6(PFKM):c.638+7T>A
|
|
|
|
NM_000289.6(PFKM):c.639-10C>G
|
rs2135915213
|
|
|
NM_000289.6(PFKM):c.639-17T>C
|
|
|
|
NM_000289.6(PFKM):c.639-7A>T
|
|
|
|
NM_000289.6(PFKM):c.639-8C>T
|
|
|
|
NM_000289.6(PFKM):c.646dup (p.Ala216fs)
|
rs2135915377
|
|
|
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
|
|
|
|
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
|
|
|
|
NM_000289.6(PFKM):c.666C>T (p.Ser222=)
|
rs1249664880
|
|
|
NM_000289.6(PFKM):c.687T>C (p.Phe229=)
|
rs2135915804
|
|
|
NM_000289.6(PFKM):c.702A>C (p.Pro234=)
|
rs138022863
|
|
|
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
|
rs138022863
|
|
|
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
|
|
|
|
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
|
|
|
|
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
|
|
|
|
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
|
rs1948422341
|
|
|
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
|
|
|
|
NM_000289.6(PFKM):c.732T>C (p.Cys244=)
|
rs1406800853
|
|
|
NM_000289.6(PFKM):c.735C>T (p.Arg245=)
|
rs2135916916
|
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
|
NM_000289.6(PFKM):c.747+10C>G
|
|
|
|
NM_000289.6(PFKM):c.747+19_747+24del
|
|
|
|
NM_000289.6(PFKM):c.747+7_747+12del
|
|
|
|
NM_000289.6(PFKM):c.747+8C>T
|
|
|
|
NM_000289.6(PFKM):c.747+9A>G
|
rs2135917272
|
|
|
NM_000289.6(PFKM):c.748-18C>T
|
|
|
|
NM_000289.6(PFKM):c.748-19A>G
|
|
|
|
NM_000289.6(PFKM):c.748-4C>T
|
rs2135919001
|
|
|
NM_000289.6(PFKM):c.748-6A>G
|
rs2135918960
|
|
|
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
|
|
|
|
NM_000289.6(PFKM):c.74del (p.Gly25fs)
|
rs2137862074
|
|
|
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
|
|
|
|
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
|
|
|
|
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
|
|
|
|
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
|
|
|
|
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
|
rs894740706
|
|
|
NM_000289.6(PFKM):c.777C>T (p.Ile259=)
|
rs2135919616
|
|
|
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
|
|
|
|
NM_000289.6(PFKM):c.780_783del (p.Ile260fs)
|
|
|
|
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
|
|
|
|
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
|
|
|
|
NM_000289.6(PFKM):c.786G>A (p.Val262=)
|
|
|
|
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
|
|
|
|
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
|
|
|
|
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
|
|
|
|
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
|
|
|
|
NM_000289.6(PFKM):c.843+16G>A
|
|
|
|
NM_000289.6(PFKM):c.843+20G>A
|
|
|
|
NM_000289.6(PFKM):c.844-11G>T
|
|
|
|
NM_000289.6(PFKM):c.844-6C>T
|
rs769686642
|
|
|
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
|
rs1310081048
|
|
|
NM_000289.6(PFKM):c.85+11G>C
|
|
|
|
NM_000289.6(PFKM):c.85+13G>A
|
|
|
|
NM_000289.6(PFKM):c.85+16del
|
|
|
|
NM_000289.6(PFKM):c.85+22dup
|
|
|
|
NM_000289.6(PFKM):c.85+8G>T
|
rs772038099
|
|
|
NM_000289.6(PFKM):c.85+9G>A
|
rs777960882
|
|
|
NM_000289.6(PFKM):c.85+9del
|
|
|
|
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
|
|
|
|
NM_000289.6(PFKM):c.852T>G (p.Val284=)
|
|
|
|
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
|
|
|
|
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
|
|
|
|
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
|
rs925038213
|
|
|
NM_000289.6(PFKM):c.86-14G>T
|
|
|
|
NM_000289.6(PFKM):c.86-1G>C
|
|
|
|
NM_000289.6(PFKM):c.86-5T>C
|
|
|
|
NM_000289.6(PFKM):c.86-8C>T
|
|
|
|
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
|
|
|
|
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
|
|
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
|
|
|
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
|
rs2135924488
|
|
|
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
|
|
|
|
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
|
|
|
|
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
|
|
|
|
NM_000289.6(PFKM):c.874del (p.Arg292fs)
|
rs1369841345
|
|
|
NM_000289.6(PFKM):c.877dup (p.Val293fs)
|
|
|
|
NM_000289.6(PFKM):c.879T>C (p.Val293=)
|
|
|
|
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
|
|
|
|
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
|
|
|
|
NM_000289.6(PFKM):c.891G>T (p.Gly297=)
|
rs2135924830
|
|
|
NM_000289.6(PFKM):c.903G>A (p.Arg301=)
|
rs2135924903
|
|
|
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
|
rs2135925089
|
|
|
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
|
|
|
|
NM_000289.6(PFKM):c.936+10T>C
|
rs2135925401
|
|
|
NM_000289.6(PFKM):c.936+10_936+28del
|
|
|
|
NM_000289.6(PFKM):c.936+12G>C
|
|
|
|
NM_000289.6(PFKM):c.936+20G>A
|
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
|
NM_000289.6(PFKM):c.936+9C>T
|
|
|
|
NM_000289.6(PFKM):c.937-13T>C
|
|
|
|
NM_000289.6(PFKM):c.937-15T>C
|
|
|
|
NM_000289.6(PFKM):c.937-18T>A
|
|
|
|
NM_000289.6(PFKM):c.937-19G>A
|
|
|
|
NM_000289.6(PFKM):c.937-4G>A
|
rs1175020971
|
|
|
NM_000289.6(PFKM):c.937-6C>T
|
rs1245827075
|
|
|
NM_000289.6(PFKM):c.937-8T>A
|
|
|
|
NM_000289.6(PFKM):c.937-8T>C
|
rs2135956395
|
|
|
NM_000289.6(PFKM):c.93T>C (p.Asn31=)
|
rs2135841860
|
|
|
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
|
|
|
|
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
|
|
|
|
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
|
|
|
|
NM_000289.6(PFKM):c.954G>A (p.Val318=)
|
|
|
|
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
|
|
|
|
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
|
|
|
|
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
|
|
|
|
NM_000289.6(PFKM):c.987A>G (p.Pro329=)
|
rs932393961
|
|
|
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
|
|
|
|
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
|
|
|
|
NM_000289.6(PFKM):c.9T>C (p.His3=)
|
|
|
|
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)
|
|
|
|
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)
|
|
|
|
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)
|
|
|
|
NM_000290.4(PGAM2):c.14G>A (p.Arg5His)
|
|
|
|
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)
|
|
|
|
NM_000290.4(PGAM2):c.15C>T (p.Arg5=)
|
|
|
|
NM_000290.4(PGAM2):c.160del (p.Ile54fs)
|
|
|
|
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
|
|
|
|
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
|
|
|
|
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)
|
|
|
|
NM_000290.4(PGAM2):c.183G>A (p.Lys61=)
|
|
|
|
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
|
|
|
|
NM_000290.4(PGAM2):c.201C>T (p.Leu67=)
|
|
|
|
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
|
|
|
|
NM_000290.4(PGAM2):c.222G>A (p.Thr74=)
|
|
|
|
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
|
rs1191913196
|
|
|
NM_000290.4(PGAM2):c.234G>A (p.Trp78Ter)
|
|
|
|
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
|
rs528467394
|
|
|
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu)
|
rs528467394
|
|
|
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)
|
|
|
|
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)
|
|
|
|
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)
|
|
|
|
NM_000290.4(PGAM2):c.257G>A (p.Arg86His)
|
|
|
|
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)
|
|
|
|
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)
|
|
|
|
NM_000290.4(PGAM2):c.300G>A (p.Lys100=)
|
|
|
|
NM_000290.4(PGAM2):c.309G>A (p.Thr103=)
|
|
|
|
NM_000290.4(PGAM2):c.321C>T (p.His107=)
|
|
|
|
NM_000290.4(PGAM2):c.330G>A (p.Glu110=)
|
|
|
|
NM_000290.4(PGAM2):c.33C>T (p.His11=)
|
|
|
|
NM_000290.4(PGAM2):c.342C>T (p.Ile114=)
|
|
|
|
NM_000290.4(PGAM2):c.350G>A (p.Arg117His)
|
|
|
|
NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)
|
|
|
|
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
|
rs2096158222
|
|
|
NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)
|
rs372435680
|
|
|
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
|
|
|
|
NM_000290.4(PGAM2):c.369G>A (p.Pro123=)
|
|
|
|
NM_000290.4(PGAM2):c.372C>A (p.Pro124=)
|
|
|
|
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
|
|
|
|
NM_000290.4(PGAM2):c.393C>T (p.Pro131=)
|
|
|
|
NM_000290.4(PGAM2):c.419G>A (p.Arg140His)
|
|
|
|
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=)
|
rs376134077
|
|
|
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)
|
|
|
|
NM_000290.4(PGAM2):c.441C>T (p.Pro147=)
|
|
|
|
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
|
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
|
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)
|
|
|
|
NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)
|
|
|
|
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)
|
|
|
|
NM_000290.4(PGAM2):c.489C>T (p.Ala163=)
|
rs1201379677
|
|
|
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)
|
|
|
|
NM_000290.4(PGAM2):c.504C>T (p.Asn168=)
|
|
|
|
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)
|
|
|
|
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
|
rs372452057
|
|
|
NM_000290.4(PGAM2):c.511A>G (p.Ile171Val)
|
rs372452057
|
|
|
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
|
|
|
|
NM_000290.4(PGAM2):c.533del (p.Gly178fs)
|
rs747947171
|
|
|
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)
|
|
|
|
NM_000290.4(PGAM2):c.558C>T (p.His186=)
|
|
|
|
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
|
rs2096156189
|
|
|
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)
|
|
|
|
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)
|
|
|
|
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
|
rs1392611950
|
|
|
NM_000290.4(PGAM2):c.63T>C (p.Arg21=)
|
|
|
|
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
|
|
|
|
NM_000290.4(PGAM2):c.684G>A (p.Lys228=)
|
|
|
|
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
|
|
|
|
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
|
|
|
|
NM_000290.4(PGAM2):c.714G>A (p.Thr238=)
|
|
|
|
NM_000290.4(PGAM2):c.720G>C (p.Arg240=)
|
|
|
|
NM_000290.4(PGAM2):c.81T>C (p.Asp27=)
|
|
|
|
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)
|
|
|
|
NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys)
|
rs2149137029
|
|
|
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)
|
rs1603398740
|
|
|
NM_000291.4(PGK1):c.1114G>A (p.Gly372Ser)
|
rs727504084
|
|
|
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro)
|
rs137852539
|
|
|
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
|
|
|
|
NM_000291.4(PGK1):c.1195A>T (p.Ser399Cys)
|
|
|
|
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)
|
rs137852536
|
|
|
NM_000291.4(PGK1):c.150C>G (p.Cys50Trp)
|
rs2149132078
|
|
|
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp)
|
rs2149132087
|
|
|
NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)
|
|
|
|
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro)
|
rs137852531
|
|
|
NM_000291.4(PGK1):c.278T>C (p.Val93Ala)
|
|
|
|
NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)
|
|
|
|
NM_000291.4(PGK1):c.352C>A (p.Leu118Met)
|
|
|
|
NM_000291.4(PGK1):c.360G>T (p.Glu120Asp)
|
rs2149132255
|
|
|
NM_000291.4(PGK1):c.417+13A>T
|
|
|
|
NM_000291.4(PGK1):c.418-7T>G
|
|
|
|
NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)
|
|
|
|
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)
|
rs2078257877
|
|
|
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro)
|
rs1557247556
|
|
|
NM_000291.4(PGK1):c.469C>A (p.Leu157Ile)
|
|
|
|
NM_000291.4(PGK1):c.473G>T (p.Gly158Val)
|
rs137852532
|
|
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
|
|
|
NM_000291.4(PGK1):c.491A>T (p.Asp164Val)
|
rs137852538
|
|
|
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
|
|
|
|
NM_000291.4(PGK1):c.53G>C (p.Arg18Pro)
|
|
|
|
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
|
|
|
|
NM_000291.4(PGK1):c.571AAG[1] (p.Lys192del)
|
rs431905502
|
|
|
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
|
|
|
|
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro)
|
rs137852529
|
|
|
NM_000291.4(PGK1):c.756+5G>A
|
rs431905503
|
|
|
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met)
|
rs431905501
|
|
|
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn)
|
rs137852528
|
|
|
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
|
|
|
|
NM_000291.4(PGK1):c.854A>T (p.Asp285Val)
|
rs137852535
|
|
|
NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser)
|
rs2149136202
|
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
|
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg)
|
rs137852533
|
|
|
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn)
|
rs137852537
|
|
|
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs)
|
rs1569344469
|
|
|
NM_000292.3(PHKA2):c.1042-1G>A
|
rs2048391185
|
|
|
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter)
|
rs1556007472
|
|
|
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
|
|
|
|
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
|
|
|
|
NM_000292.3(PHKA2):c.1137+17G>A
|
|
|
|
NM_000292.3(PHKA2):c.1137+2T>C
|
rs2147946477
|
|
|
NM_000292.3(PHKA2):c.1138-2A>G
|
rs1601748216
|
|
|
NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)
|
|
|
|
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
|
|
|
|
NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)
|
|
|
|
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)
|
rs2048317403
|
|
|
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)
|
rs2147934341
|
|
|
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=)
|
rs368320508
|
|
|
NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)
|
|
|
|
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)
|
rs1601747985
|
|
|
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser)
|
rs1556016365
|
|
|
NM_000292.3(PHKA2):c.1324+1G>A
|
rs1289077489
|
|
|
NM_000292.3(PHKA2):c.1325-1G>A
|
|
|
|
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
|
rs1601781031
|
|
|
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln)
|
rs1601781024
|
|
|
NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)
|
|
|
|
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
|
|
|
|
NM_000292.3(PHKA2):c.147C>A (p.Tyr49Ter)
|
rs768063119
|
|
|
NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)
|
|
|
|
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
|
rs2048199652
|
|
|
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
|
|
|
|
NM_000292.3(PHKA2):c.1502del (p.His501fs)
|
|
|
|
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
|
|
|
|
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter)
|
rs1601739229
|
|
|
NM_000292.3(PHKA2):c.1569+3G>A
|
|
|
|
NM_000292.3(PHKA2):c.1632G>A (p.Arg544=)
|
rs201710031
|
|
|
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
|
|
|
|
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)
|
rs2147995267
|
|
|
NM_000292.3(PHKA2):c.1714+1G>A
|
rs1556002344
|
|
|
NM_000292.3(PHKA2):c.1715-14C>T
|
|
|
|
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
|
|
|
|
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)
|
rs370965746
|
|
|
NM_000292.3(PHKA2):c.1794-8_1794-6del
|
|
|
|
NM_000292.3(PHKA2):c.1794-8_1812del
|
rs1556000892
|
|
|
NM_000292.3(PHKA2):c.18T>C (p.Asn6=)
|
rs954792469
|
|
|
NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)
|
|
|
|
NM_000292.3(PHKA2):c.1964-15C>A
|
|
|
|
NM_000292.3(PHKA2):c.1964-3C>T
|
rs1035866155
|
|
|
NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)
|
|
|
|
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
|
|
|
|
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)
|
rs2148058081
|
|
|
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
|
|
|
|
NM_000292.3(PHKA2):c.216C>T (p.Ala72=)
|
|
|
|
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
|
|
|
|
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter)
|
rs1569300538
|
|
|
NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)
|
|
|
|
NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)
|
|
|
|
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter)
|
rs1601714299
|
|
|
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter)
|
rs137852286
|
|
|
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)
|
rs1601780766
|
|
|
NM_000292.3(PHKA2):c.2360+12A>G
|
|
|
|
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs)
|
rs2147859879
|
|
|
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
|
rs886801187
|
|
|
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
|
|
|
|
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
|
|
|
|
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs)
|
rs1555995635
|
|
|
NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)
|
|
|
|
NM_000292.3(PHKA2):c.2465del (p.Leu822fs)
|
rs1569298646
|
|
|
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
|
rs2047851598
|
|
|
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)
|
rs1569298640
|
|
|
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
|
rs1234436850
|
|
|
NM_000292.3(PHKA2):c.2509_2510insATGTATAAATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTATATTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTCC (p.Leu837delinsHisValTer)
|
rs2147859144
|
|
|
NM_000292.3(PHKA2):c.2517+5G>A
|
rs2047850403
|
|
|
NM_000292.3(PHKA2):c.2518-1G>A
|
rs2047834385
|
|
|
NM_000292.3(PHKA2):c.256C>T (p.Arg86Ter)
|
rs2147991282
|
|
|
NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)
|
|
|
|
NM_000292.3(PHKA2):c.2597+1G>A
|
rs1210626722
|
|
|
NM_000292.3(PHKA2):c.2597+2dup
|
rs2047830748
|
|
|
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
|
|
|
|
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
|
|
|
|
NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)
|
|
|
|
NM_000292.3(PHKA2):c.2614G>T (p.Glu872Ter)
|
rs2147855177
|
|
|
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)
|
rs2147991232
|
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
|
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)
|
rs1569297427
|
|
|
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs)
|
rs1569297379
|
|
|
NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)
|
|
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
|
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
|
|
|
|
NM_000292.3(PHKA2):c.2806+12G>A
|
|
|
|
NM_000292.3(PHKA2):c.2806+16C>T
|
|
|
|
NM_000292.3(PHKA2):c.2807-11T>C
|
|
|
|
NM_000292.3(PHKA2):c.285+2_285+5del
|
rs2048714302
|
|
|
NM_000292.3(PHKA2):c.286-10del
|
rs766261786
|
|
|
NM_000292.3(PHKA2):c.286-15T>A
|
|
|
|
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
|
rs2147851573
|
|
|
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
|
|
|
|
NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)
|
|
|
|
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
|
|
|
|
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter)
|
rs137852285
|
|
|
NM_000292.3(PHKA2):c.3027+10C>T
|
|
|
|
NM_000292.3(PHKA2):c.3027+8C>A
|
|
|
|
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)
|
rs1601700586
|
|
|
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)
|
rs773766679
|
|
|
NM_000292.3(PHKA2):c.3111+14G>A
|
rs759056537
|
|
|
NM_000292.3(PHKA2):c.3111+14G>T
|
rs759056537
|
|
|
NM_000292.3(PHKA2):c.3112-2A>G
|
|
|
|
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
|
|
|
|
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter)
|
rs137852287
|
|
|
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)
|
rs1601776523
|
|
|
NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)
|
|
|
|
NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)
|
|
|
|
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
|
|
|
|
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
|
|
|
|
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del)
|
rs1555989523
|
|
|
NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)
|
|
|
|
NM_000292.3(PHKA2):c.3282+15G>A
|
|
|
|
NM_000292.3(PHKA2):c.3282+8G>A
|
|
|
|
NM_000292.3(PHKA2):c.3283-1G>C
|
rs2047516641
|
|
|
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
|
|
|
|
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
|
|
|
|
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)
|
rs2147806873
|
|
|
NM_000292.3(PHKA2):c.3327_3332dup (p.Arg1111_Glu1112insThrArg)
|
rs2147806786
|
|
|
NM_000292.3(PHKA2):c.3329_3336+6del
|
|
|
|
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter)
|
rs1601689006
|
|
|
NM_000292.3(PHKA2):c.3336+1dup
|
rs2047514376
|
|
|
NM_000292.3(PHKA2):c.3336+20G>T
|
|
|
|
NM_000292.3(PHKA2):c.3336+2T>A
|
rs1555988479
|
|
|
NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)
|
|
|
|
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)
|
rs137852293
|
|
|
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
|
rs2047493147
|
|
|
NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)
|
|
|
|
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
|
rs2047492720
|
|
|
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)
|
rs1555988071
|
|
|
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)
|
rs2047492649
|
|
|
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)
|
rs797044921
|
|
|
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
|
|
|
|
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)
|
rs1601687244
|
|
|
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
|
|
|
|
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
|
|
|
|
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
|
|
|
|
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
|
|
|
|
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
|
rs2047490848
|
|
|
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)
|
rs1601776489
|
|
|
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
|
rs2147802543
|
|
|
NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)
|
|
|
|
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)
|
rs754254758
|
|
|
NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)
|
|
|
|
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
|
|
|
|
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)
|
rs2047487518
|
|
|
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
|
|
|
|
NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)
|
|
|
|
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)
|
rs1569286164
|
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
|
NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)
|
|
|
|
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)
|
rs1601685360
|
|
|
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)
|
rs1601685358
|
|
|
NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle)
|
rs2047467477
|
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
|
NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)
|
|
|
|
NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=)
|
rs369001472
|
|
|
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
|
rs2047465246
|
|
|
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr)
|
rs137852292
|
|
|
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)
|
rs137852291
|
|
|
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
|
rs137852291
|
|
|
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)
|
rs1601776276
|
|
|
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro)
|
rs1556014969
|
|
|
NM_000292.3(PHKA2):c.421_423del (p.Phe141del)
|
rs587776732
|
|
|
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
|
|
|
|
NM_000292.3(PHKA2):c.454+10G>A
|
|
|
|
NM_000292.3(PHKA2):c.454+9G>C
|
|
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
|
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
|
|
|
|
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
|
|
|
|
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
|
|
|
|
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
|
|
|
|
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
|
rs774250532
|
|
|
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys)
|
rs137852294
|
|
|
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)
|
rs137852290
|
|
|
NM_000292.3(PHKA2):c.559G>A (p.Gly187Arg)
|
rs2147972085
|
|
|
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu)
|
rs137852295
|
|
|
NM_000292.3(PHKA2):c.584del (p.Pro195fs)
|
|
|
|
NM_000292.3(PHKA2):c.717+1G>A
|
|
|
|
NM_000292.3(PHKA2):c.717+1G>T
|
rs587776731
|
|
|
NM_000292.3(PHKA2):c.718-2A>G
|
rs1601763099
|
|
|
NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)
|
|
|
|
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)
|
rs2147963178
|
|
|
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
|
rs2048489995
|
|
|
NM_000292.3(PHKA2):c.750_752del (p.Thr251del)
|
rs587776733
|
|
|
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)
|
rs2147962993
|
|
|
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)
|
rs2049222511
|
|
|
NM_000292.3(PHKA2):c.84C>T (p.Pro28=)
|
|
|
|
NM_000292.3(PHKA2):c.858G>A (p.Lys286=)
|
|
|
|
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)
|
rs797045008
|
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
|
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)
|
rs797044877
|
|
|
NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)
|
|
|
|
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
|
rs1359540820
|
|
|
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly)
|
rs137852289
|
|
|
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
|
rs2147958526
|
|
|
NM_000292.3(PHKA2):c.918+1G>A
|
rs1601760689
|
|
|
NM_000292.3(PHKA2):c.919-1G>A
|
rs2147954328
|
|
|
NM_000292.3(PHKA2):c.919-2A>G
|
rs2147954334
|
|
|
NM_000292.3(PHKA2):c.93del (p.Leu32fs)
|
rs2048744617
|
|
|
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
|
|
|
|
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)
|
rs1601758342
|
|
|
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
|
|
|
|
NM_000293.3(PHKB):c.*1007G>A
|
rs1047494618
|
|
|
NM_000293.3(PHKB):c.*1105T>C
|
rs1365256572
|
|
|
NM_000293.3(PHKB):c.*1253A>G
|
rs1974232128
|
|
|
NM_000293.3(PHKB):c.*1262A>C
|
rs886052030
|
|
|
NM_000293.3(PHKB):c.*1753G>A
|
rs7202866
|
|
|
NM_000293.3(PHKB):c.*2104T>C
|
rs886052033
|
|
|
NM_000293.3(PHKB):c.*221C>T
|
rs1974213779
|
|
|
NM_000293.3(PHKB):c.*405G>T
|
rs1597192442
|
|
|
NM_000293.3(PHKB):c.*523T>C
|
rs886052027
|
|
|
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)
|
|
|
|
NM_000293.3(PHKB):c.1011G>T (p.Gly337=)
|
|
|
|
NM_000293.3(PHKB):c.1023A>G (p.Ser341=)
|
|
|
|
NM_000293.3(PHKB):c.1024T>C (p.Leu342=)
|
|
|
|
NM_000293.3(PHKB):c.1029A>G (p.Glu343=)
|
|
|
|
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)
|
|
|
|
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg)
|
|
|
|
NM_000293.3(PHKB):c.1045_1049dup (p.Lys351fs)
|
|
|
|
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)
|
rs1197477921
|
|
|
NM_000293.3(PHKB):c.105T>C (p.Ile35=)
|
|
|
|
NM_000293.3(PHKB):c.1068+13A>C
|
|
|
|
NM_000293.3(PHKB):c.1068+19T>C
|
|
|
|
NM_000293.3(PHKB):c.1069-10T>C
|
|
|
|
NM_000293.3(PHKB):c.1069-15T>C
|
|
|
|
NM_000293.3(PHKB):c.1069-3T>C
|
|
|
|
NM_000293.3(PHKB):c.1069-9C>G
|
|
|
|
NM_000293.3(PHKB):c.1071A>G (p.Leu357=)
|
|
|
|
NM_000293.3(PHKB):c.1089T>A (p.Cys363Ter)
|
|
|
|
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu)
|
|
|
|
NM_000293.3(PHKB):c.1098C>T (p.Pro366=)
|
|
|
|
NM_000293.3(PHKB):c.10del (p.Ala4fs)
|
|
|
|
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
|
rs1972067736
|
|
|
NM_000293.3(PHKB):c.1126+11T>C
|
|
|
|
NM_000293.3(PHKB):c.1126+1G>T
|
|
|
|
NM_000293.3(PHKB):c.1126+1GTAA[3]
|
|
|
|
NM_000293.3(PHKB):c.1126+2T>C
|
|
|
|
NM_000293.3(PHKB):c.1126+30_1126+52del
|
rs558528097
|
|
|
NM_000293.3(PHKB):c.1126+8A>G
|
|
|
|
NM_000293.3(PHKB):c.1126+9G>A
|
|
|
|
NM_000293.3(PHKB):c.1127-6T>A
|
|
|
|
NM_000293.3(PHKB):c.1127-7A>G
|
|
|
|
NM_000293.3(PHKB):c.1134T>C (p.Phe378=)
|
|
|
|
NM_000293.3(PHKB):c.1162_1166dup (p.Gln389fs)
|
|
|
|
NM_000293.3(PHKB):c.1179T>A (p.Thr393=)
|
rs2151700466
|
|
|
NM_000293.3(PHKB):c.1185A>G (p.Val395=)
|
|
|
|
NM_000293.3(PHKB):c.1197C>T (p.Thr399=)
|
|
|
|
NM_000293.3(PHKB):c.1204+11T>C
|
|
|
|
NM_000293.3(PHKB):c.1204+16T>A
|
|
|
|
NM_000293.3(PHKB):c.1204+16del
|
|
|
|
NM_000293.3(PHKB):c.1204+19G>T
|
|
|
|
NM_000293.3(PHKB):c.1204+1G>T
|
|
|
|
NM_000293.3(PHKB):c.1204+7T>C
|
|
|
|
NM_000293.3(PHKB):c.1204+8dup
|
|
|
|
NM_000293.3(PHKB):c.1204+9G>A
|
|
|
|
NM_000293.3(PHKB):c.1205-12del
|
|
|
|
NM_000293.3(PHKB):c.1205-14T>G
|
|
|
|
NM_000293.3(PHKB):c.1205-16T>G
|
|
|
|
NM_000293.3(PHKB):c.1205-4A>G
|
|
|
|
NM_000293.3(PHKB):c.1205-8C>T
|
|
|
|
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu)
|
|
|
|
NM_000293.3(PHKB):c.1212T>G (p.Pro404=)
|
|
|
|
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
|
rs1372877925
|
|
|
NM_000293.3(PHKB):c.1228T>C (p.Tyr410His)
|
rs2151701605
|
|
|
NM_000293.3(PHKB):c.1230T>G (p.Tyr410Ter)
|
|
|
|
NM_000293.3(PHKB):c.1236G>A (p.Val412=)
|
|
|
|
NM_000293.3(PHKB):c.1239A>C (p.Pro413=)
|
|
|
|
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys)
|
|
|
|
NM_000293.3(PHKB):c.1257T>C (p.Tyr419=)
|
|
|
|
NM_000293.3(PHKB):c.1257T>G (p.Tyr419Ter)
|
|
|
|
NM_000293.3(PHKB):c.1265del (p.Asn422fs)
|
|
|
|
NM_000293.3(PHKB):c.1265dup (p.Asn422fs)
|
|
|
|
NM_000293.3(PHKB):c.126T>C (p.Asn42=)
|
|
|
|
NM_000293.3(PHKB):c.126del (p.Asn42fs)
|
|
|
|
NM_000293.3(PHKB):c.127G>T (p.Glu43Ter)
|
|
|
|
NM_000293.3(PHKB):c.12G>C (p.Ala4=)
|
|
|
|
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn)
|
|
|
|
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)
|
|
|
|
NM_000293.3(PHKB):c.1320del (p.Leu442fs)
|
|
|
|
NM_000293.3(PHKB):c.1326T>C (p.Leu442=)
|
|
|
|
NM_000293.3(PHKB):c.1331del (p.Gly444fs)
|
|
|
|
NM_000293.3(PHKB):c.1341T>G (p.Leu447=)
|
|
|
|
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe)
|
|
|
|
NM_000293.3(PHKB):c.1363+20A>G
|
|
|
|
NM_000293.3(PHKB):c.1364-11_1364-9del
|
|
|
|
NM_000293.3(PHKB):c.1364-11del
|
|
|
|
NM_000293.3(PHKB):c.1364-14C>G
|
|
|
|
NM_000293.3(PHKB):c.1364-16C>G
|
|
|
|
NM_000293.3(PHKB):c.1364-1G>A
|
|
|
|
NM_000293.3(PHKB):c.1364-2A>G
|
rs1972413438
|
|
|
NM_000293.3(PHKB):c.1364-5T>C
|
|
|
|
NM_000293.3(PHKB):c.1374T>C (p.Leu458=)
|
|
|
|
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr)
|
|
|
|
NM_000293.3(PHKB):c.1380T>C (p.Ser460=)
|
|
|
|
NM_000293.3(PHKB):c.1389C>T (p.Asp463=)
|
|
|
|
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr)
|
rs1567326518
|
|
|
NM_000293.3(PHKB):c.1404G>A (p.Gln468=)
|
|
|
|
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
|
|
|
|
NM_000293.3(PHKB):c.1413C>G (p.Val471=)
|
|
|
|
NM_000293.3(PHKB):c.1428A>G (p.Gln476=)
|
|
|
|
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)
|
|
|
|
NM_000293.3(PHKB):c.1431T>C (p.Arg477=)
|
|
|
|
NM_000293.3(PHKB):c.1434C>T (p.Asn478=)
|
|
|
|
NM_000293.3(PHKB):c.1437G>A (p.Val479=)
|
|
|
|
NM_000293.3(PHKB):c.1458+10T>C
|
|
|
|
NM_000293.3(PHKB):c.1458+20C>A
|
|
|
|
NM_000293.3(PHKB):c.1458+3A>G
|
|
|
|
NM_000293.3(PHKB):c.1459-10T>C
|
|
|
|
NM_000293.3(PHKB):c.1459-13T>C
|
|
|
|
NM_000293.3(PHKB):c.1459-17del
|
|
|
|
NM_000293.3(PHKB):c.1459-18C>G
|
|
|
|
NM_000293.3(PHKB):c.1459-5T>C
|
|
|
|
NM_000293.3(PHKB):c.1485T>C (p.Val495=)
|
|
|
|
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg)
|
|
|
|
NM_000293.3(PHKB):c.1514+11C>G
|
|
|
|
NM_000293.3(PHKB):c.1514+12A>T
|
|
|
|
NM_000293.3(PHKB):c.1514+20G>T
|
|
|
|
NM_000293.3(PHKB):c.1515-17A>G
|
|
|
|
NM_000293.3(PHKB):c.1515-8A>C
|
|
|
|
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg)
|
|
|
|
NM_000293.3(PHKB):c.1530G>T (p.Leu510=)
|
|
|
|
NM_000293.3(PHKB):c.1533C>T (p.Asn511=)
|
|
|
|
NM_000293.3(PHKB):c.1536A>G (p.Thr512=)
|
|
|
|
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)
|
|
|
|
NM_000293.3(PHKB):c.1539T>C (p.Tyr513=)
|
|
|
|
NM_000293.3(PHKB):c.1548A>T (p.Gln516His)
|
|
|
|
NM_000293.3(PHKB):c.1557T>C (p.Thr519=)
|
|
|
|
NM_000293.3(PHKB):c.1563A>G (p.Gln521=)
|
|
|
|
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
|
rs1973024428
|
|
|
NM_000293.3(PHKB):c.1596G>A (p.Gln532=)
|
|
|
|
NM_000293.3(PHKB):c.1608+13G>A
|
|
|
|
NM_000293.3(PHKB):c.1608+13G>T
|
|
|
|
NM_000293.3(PHKB):c.1608+18T>C
|
|
|
|
NM_000293.3(PHKB):c.1609-14C>G
|
|
|
|
NM_000293.3(PHKB):c.1609-14C>T
|
|
|
|
NM_000293.3(PHKB):c.1609-17A>C
|
|
|
|
NM_000293.3(PHKB):c.1609-18C>T
|
|
|
|
NM_000293.3(PHKB):c.1609-19A>G
|
|
|
|
NM_000293.3(PHKB):c.1609-2A>C
|
|
|
|
NM_000293.3(PHKB):c.1609-7C>A
|
|
|
|
NM_000293.3(PHKB):c.1609-9G>A
|
|
|
|
NM_000293.3(PHKB):c.1611T>G (p.Ala537=)
|
|
|
|
NM_000293.3(PHKB):c.1615T>C (p.Leu539=)
|
|
|
|
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser)
|
|
|
|
NM_000293.3(PHKB):c.1622dup (p.Ile543fs)
|
|
|
|
NM_000293.3(PHKB):c.1647C>T (p.Leu549=)
|
|
|
|
NM_000293.3(PHKB):c.1650T>A (p.Ser550=)
|
|
|
|
NM_000293.3(PHKB):c.1665G>A (p.Arg555=)
|
|
|
|
NM_000293.3(PHKB):c.167-4G>T
|
|
|
|
NM_000293.3(PHKB):c.167-8A>G
|
|
|
|
NM_000293.3(PHKB):c.167-8A>T
|
|
|
|
NM_000293.3(PHKB):c.1680C>G (p.Leu560=)
|
|
|
|
NM_000293.3(PHKB):c.1680C>T (p.Leu560=)
|
|
|
|
NM_000293.3(PHKB):c.1686A>G (p.Thr562=)
|
|
|
|
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)
|
rs1292721679
|
|
|
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)
|
|
|
|
NM_000293.3(PHKB):c.1692+19C>T
|
|
|
|
NM_000293.3(PHKB):c.1692+20A>T
|
|
|
|
NM_000293.3(PHKB):c.1693-20T>G
|
|
|
|
NM_000293.3(PHKB):c.1693-2A>G
|
|
|
|
NM_000293.3(PHKB):c.1693-4A>C
|
|
|
|
NM_000293.3(PHKB):c.1693-7C>T
|
|
|
|
NM_000293.3(PHKB):c.1693-8C>T
|
|
|
|
NM_000293.3(PHKB):c.1693-9C>T
|
|
|
|
NM_000293.3(PHKB):c.1698T>C (p.Tyr566=)
|
|
|
|
NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)
|
|
|
|
NM_000293.3(PHKB):c.1707A>G (p.Leu569=)
|
|
|
|
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp)
|
|
|
|
NM_000293.3(PHKB):c.1731G>A (p.Pro577=)
|
|
|
|
NM_000293.3(PHKB):c.1731G>T (p.Pro577=)
|
|
|
|
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn)
|
rs1567341136
|
|
|
NM_000293.3(PHKB):c.174A>T (p.Ser58=)
|
|
|
|
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr)
|
rs886052022
|
|
|
NM_000293.3(PHKB):c.1779G>T (p.Leu593=)
|
|
|
|
NM_000293.3(PHKB):c.1782G>A (p.Leu594=)
|
|
|
|
NM_000293.3(PHKB):c.1782G>T (p.Leu594=)
|
|
|
|
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr)
|
|
|
|
NM_000293.3(PHKB):c.1788T>C (p.Asp596=)
|
|
|
|
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
|
|
|
|
NM_000293.3(PHKB):c.1797+11A>G
|
|
|
|
NM_000293.3(PHKB):c.1797+12A>G
|
|
|
|
NM_000293.3(PHKB):c.1797+13C>T
|
|
|
|
NM_000293.3(PHKB):c.1797+19T>C
|
|
|
|
NM_000293.3(PHKB):c.1797+1G>A
|
|
|
|
NM_000293.3(PHKB):c.1797+1G>C
|
rs777714363
|
|
|
NM_000293.3(PHKB):c.1797+20C>T
|
|
|
|
NM_000293.3(PHKB):c.1798-19A>G
|
|
|
|
NM_000293.3(PHKB):c.1798-9G>C
|
|
|
|
NM_000293.3(PHKB):c.1800T>C (p.Asn600=)
|
|
|
|
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val)
|
rs192099645
|
|
|
NM_000293.3(PHKB):c.1805_1808dup (p.Gln603fs)
|
|
|
|
NM_000293.3(PHKB):c.180G>A (p.Leu60=)
|
|
|
|
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val)
|
|
|
|
NM_000293.3(PHKB):c.1818A>G (p.Lys606=)
|
|
|
|
NM_000293.3(PHKB):c.1824T>C (p.Tyr608=)
|
|
|
|
NM_000293.3(PHKB):c.1841G>A (p.Arg614His)
|
|
|
|
NM_000293.3(PHKB):c.1845A>C (p.Pro615=)
|
|
|
|
NM_000293.3(PHKB):c.1860C>T (p.Leu620=)
|
|
|
|
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu)
|
|
|
|
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)
|
|
|
|
NM_000293.3(PHKB):c.186G>A (p.Leu62=)
|
|
|
|
NM_000293.3(PHKB):c.186G>C (p.Leu62=)
|
|
|
|
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val)
|
|
|
|
NM_000293.3(PHKB):c.1880+11A>G
|
|
|
|
NM_000293.3(PHKB):c.1880+6T>C
|
|
|
|
NM_000293.3(PHKB):c.1881-10T>C
|
|
|
|
NM_000293.3(PHKB):c.1881-11A>G
|
|
|
|
NM_000293.3(PHKB):c.1881-13_1881-10del
|
|
|
|
NM_000293.3(PHKB):c.1881-9A>G
|
|
|
|
NM_000293.3(PHKB):c.1887C>T (p.Ser629=)
|
|
|
|
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp)
|
|
|
|
NM_000293.3(PHKB):c.1893C>T (p.Phe631=)
|
|
|
|
NM_000293.3(PHKB):c.1899C>T (p.Pro633=)
|
|
|
|
NM_000293.3(PHKB):c.18A>T (p.Gly6=)
|
|
|
|
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val)
|
|
|
|
NM_000293.3(PHKB):c.1917A>G (p.Ala639=)
|
|
|
|
NM_000293.3(PHKB):c.1926A>G (p.Lys642=)
|
|
|
|
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu)
|
|
|
|
NM_000293.3(PHKB):c.1929A>G (p.Lys643=)
|
|
|
|
NM_000293.3(PHKB):c.1938T>C (p.Ile646=)
|
|
|
|
NM_000293.3(PHKB):c.1941A>T (p.Gly647=)
|
rs551223829
|
|
|
NM_000293.3(PHKB):c.1956T>C (p.His652=)
|
|
|
|
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
|
rs756158798
|
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
|
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)
|
rs34667348
|
|
|
NM_000293.3(PHKB):c.1971+19G>A
|
|
|
|
NM_000293.3(PHKB):c.1972-11T>A
|
|
|
|
NM_000293.3(PHKB):c.1972-13G>A
|
|
|
|
NM_000293.3(PHKB):c.1972-13G>T
|
|
|
|
NM_000293.3(PHKB):c.1972-14C>T
|
|
|
|
NM_000293.3(PHKB):c.1972-2A>G
|
rs964263812
|
|
|
NM_000293.3(PHKB):c.1972-9A>G
|
|
|
|
NM_000293.3(PHKB):c.1983_1984del (p.Gly662fs)
|
|
|
|
NM_000293.3(PHKB):c.198A>C (p.Pro66=)
|
|
|
|
NM_000293.3(PHKB):c.1992G>A (p.Val664=)
|
|
|
|
NM_000293.3(PHKB):c.1992G>T (p.Val664=)
|
|
|
|
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
|
|
|
|
NM_000293.3(PHKB):c.2019C>T (p.Ile673=)
|
|
|
|
NM_000293.3(PHKB):c.2033+11T>G
|
|
|
|
NM_000293.3(PHKB):c.2033+15G>A
|
|
|
|
NM_000293.3(PHKB):c.2033+5G>A
|
|
|
|
NM_000293.3(PHKB):c.2034-10T>G
|
|
|
|
NM_000293.3(PHKB):c.2034-16T>C
|
|
|
|
NM_000293.3(PHKB):c.2034-19C>T
|
|
|
|
NM_000293.3(PHKB):c.2034-20C>A
|
|
|
|
NM_000293.3(PHKB):c.2046T>C (p.Phe682=)
|
|
|
|
NM_000293.3(PHKB):c.2048dup (p.Ser684fs)
|
rs766592623
|
|
|
NM_000293.3(PHKB):c.204C>G (p.Thr68=)
|
|
|
|
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
|
|
|
|
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val)
|
|
|
|
NM_000293.3(PHKB):c.2064A>G (p.Leu688=)
|
|
|
|
NM_000293.3(PHKB):c.2073C>T (p.Pro691=)
|
|
|
|
NM_000293.3(PHKB):c.2078A>G (p.His693Arg)
|
|
|
|
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile)
|
|
|
|
NM_000293.3(PHKB):c.2094G>A (p.Arg698=)
|
|
|
|
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile)
|
|
|
|
NM_000293.3(PHKB):c.2106C>A (p.Thr702=)
|
|
|
|
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)
|
|
|
|
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
|
|
|
|
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu)
|
|
|
|
NM_000293.3(PHKB):c.2175C>T (p.His725=)
|
|
|
|
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys)
|
|
|
|
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
|
|
|
|
NM_000293.3(PHKB):c.2181T>C (p.Ile727=)
|
|
|
|
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe)
|
|
|
|
NM_000293.3(PHKB):c.2196+18C>T
|
|
|
|
NM_000293.3(PHKB):c.2196+19C>T
|
|
|
|
NM_000293.3(PHKB):c.2197-10A>G
|
|
|
|
NM_000293.3(PHKB):c.2197-14A>T
|
|
|
|
NM_000293.3(PHKB):c.2197-17G>A
|
|
|
|
NM_000293.3(PHKB):c.2197-18C>G
|
|
|
|
NM_000293.3(PHKB):c.2197-18C>T
|
|
|
|
NM_000293.3(PHKB):c.219T>C (p.Thr73=)
|
|
|
|
NM_000293.3(PHKB):c.21C>T (p.Leu7=)
|
|
|
|
NM_000293.3(PHKB):c.2208T>C (p.Cys736=)
|
|
|
|
NM_000293.3(PHKB):c.2214T>C (p.Ala738=)
|
|
|
|
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)
|
|
|
|
NM_000293.3(PHKB):c.2229G>A (p.Leu743=)
|
|
|
|
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
|
rs1597159344
|
|
|
NM_000293.3(PHKB):c.2253A>G (p.Glu751=)
|
|
|
|
NM_000293.3(PHKB):c.2256C>T (p.Gly752=)
|
|
|
|
NM_000293.3(PHKB):c.2259C>T (p.Pro753=)
|
|
|
|
NM_000293.3(PHKB):c.225A>C (p.Thr75=)
|
|
|
|
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr)
|
|
|
|
NM_000293.3(PHKB):c.2273del (p.Lys758fs)
|
rs2151737344
|
|
|
NM_000293.3(PHKB):c.2278+11A>G
|
|
|
|
NM_000293.3(PHKB):c.2278+16T>C
|
|
|
|
NM_000293.3(PHKB):c.2278+1G>A
|
|
|
|
NM_000293.3(PHKB):c.2278+8T>G
|
|
|
|
NM_000293.3(PHKB):c.2278+9G>T
|
rs1402083021
|
|
|
NM_000293.3(PHKB):c.2279-6G>A
|
|
|
|
NM_000293.3(PHKB):c.2279-7T>C
|
|
|
|
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala)
|
|
|
|
NM_000293.3(PHKB):c.2283C>A (p.Thr761=)
|
|
|
|
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
|
rs775960919
|
|
|
NM_000293.3(PHKB):c.228C>T (p.Cys76=)
|
|
|
|
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly)
|
rs1973484337
|
|
|
NM_000293.3(PHKB):c.2295C>T (p.His765=)
|
|
|
|
NM_000293.3(PHKB):c.2301G>A (p.Glu767=)
|
|
|
|
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys)
|
|
|
|
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg)
|
|
|
|
NM_000293.3(PHKB):c.2329_2336+5del
|
|
|
|
NM_000293.3(PHKB):c.2331A>G (p.Lys777=)
|
|
|
|
NM_000293.3(PHKB):c.2332del (p.Leu778fs)
|
|
|
|
NM_000293.3(PHKB):c.2336+13G>T
|
|
|
|
NM_000293.3(PHKB):c.2336+18T>C
|
|
|
|
NM_000293.3(PHKB):c.2336+19G>A
|
|
|
|
NM_000293.3(PHKB):c.2336+19G>T
|
|
|
|
NM_000293.3(PHKB):c.2336+22_2336+24del
|
|
|
|
NM_000293.3(PHKB):c.2337-12T>G
|
|
|
|
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val)
|
|
|
|
NM_000293.3(PHKB):c.2344G>A (p.Val782Met)
|
|
|
|
NM_000293.3(PHKB):c.2345_2355del (p.Val782fs)
|
|
|
|
NM_000293.3(PHKB):c.2346G>A (p.Val782=)
|
|
|
|
NM_000293.3(PHKB):c.234T>C (p.Gly78=)
|
|
|
|
NM_000293.3(PHKB):c.2361A>G (p.Ala787=)
|
|
|
|
NM_000293.3(PHKB):c.2370G>A (p.Gln790=)
|
|
|
|
NM_000293.3(PHKB):c.2385T>C (p.Ser795=)
|
|
|
|
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
|
|
|
|
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg)
|
rs886052020
|
|
|
NM_000293.3(PHKB):c.2418T>C (p.His806=)
|
|
|
|
NM_000293.3(PHKB):c.2424A>G (p.Lys808=)
|
|
|
|
NM_000293.3(PHKB):c.2427+1001A>G
|
|
|
|
NM_000293.3(PHKB):c.2427+1014G>A
|
rs2151739368
|
|
|
NM_000293.3(PHKB):c.2427+1017T>C
|
|
|
|
NM_000293.3(PHKB):c.2427+1021C>T
|
|
|
|
NM_000293.3(PHKB):c.2427+1024A>G
|
|
|
|
NM_000293.3(PHKB):c.2427+1034A>G
|
|
|
|
NM_000293.3(PHKB):c.2427+1045del
|
rs2151739379
|
|
|
NM_000293.3(PHKB):c.2427+1051C>A
|
|
|
|
NM_000293.3(PHKB):c.2427+1052_2427+1083del
|
|
|
|
NM_000293.3(PHKB):c.2427+1053A>G
|
rs375085518
|
|
|
NM_000293.3(PHKB):c.2427+1064A>G
|
|
|
|
NM_000293.3(PHKB):c.2427+1068G>T
|
|
|
|
NM_000293.3(PHKB):c.2427+1069C>T
|
|
|
|
NM_000293.3(PHKB):c.2427+1071T>C
|
|
|
|
NM_000293.3(PHKB):c.2427+17T>C
|
|
|
|
NM_000293.3(PHKB):c.2427+1G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+947G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+947G>C
|
|
|
|
NM_000293.3(PHKB):c.2427+952C>A
|
|
|
|
NM_000293.3(PHKB):c.2427+952C>G
|
|
|
|
NM_000293.3(PHKB):c.2427+959G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+962C>A
|
|
|
|
NM_000293.3(PHKB):c.2427+962C>T
|
|
|
|
NM_000293.3(PHKB):c.2427+963C>G
|
|
|
|
NM_000293.3(PHKB):c.2427+964del
|
rs762091938
|
|
|
NM_000293.3(PHKB):c.2427+970G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+977C>T
|
|
|
|
NM_000293.3(PHKB):c.2427+980C>T
|
|
|
|
NM_000293.3(PHKB):c.2427+981G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+981G>T
|
|
|
|
NM_000293.3(PHKB):c.2427+986G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+990G>A
|
|
|
|
NM_000293.3(PHKB):c.2427+996_2427+1000del
|
|
|
|
NM_000293.3(PHKB):c.2428-11G>A
|
|
|
|
NM_000293.3(PHKB):c.2428-13C>A
|
|
|
|
NM_000293.3(PHKB):c.2428-13C>G
|
|
|
|
NM_000293.3(PHKB):c.2428-4G>T
|
|
|
|
NM_000293.3(PHKB):c.2430A>G (p.Val810=)
|
|
|
|
NM_000293.3(PHKB):c.2448G>A (p.Gly816=)
|
|
|
|
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del)
|
rs532057230
|
|
|
NM_000293.3(PHKB):c.2457del (p.Glu820fs)
|
rs1322527832
|
|
|
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile)
|
|
|
|
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys)
|
|
|
|
NM_000293.3(PHKB):c.2520C>T (p.Asn840=)
|
|
|
|
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr)
|
|
|
|
NM_000293.3(PHKB):c.2538A>G (p.Glu846=)
|
|
|
|
NM_000293.3(PHKB):c.2541G>A (p.Ala847=)
|
|
|
|
NM_000293.3(PHKB):c.2541G>C (p.Ala847=)
|
|
|
|
NM_000293.3(PHKB):c.2550G>A (p.Gln850=)
|
|
|
|
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val)
|
|
|
|
NM_000293.3(PHKB):c.2559G>C (p.Leu853=)
|
|
|
|
NM_000293.3(PHKB):c.2574C>A (p.Gly858=)
|
|
|
|
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val)
|
|
|
|
NM_000293.3(PHKB):c.2583C>A (p.Ile861=)
|
|
|
|
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)
|
|
|
|
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu)
|
rs147357783
|
|
|
NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)
|
|
|
|
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
|
|
|
|
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln)
|
|
|
|
NM_000293.3(PHKB):c.2625A>C (p.Arg875=)
|
|
|
|
NM_000293.3(PHKB):c.2628C>T (p.Ile876=)
|
|
|
|
NM_000293.3(PHKB):c.2630+13del
|
|
|
|
NM_000293.3(PHKB):c.2630+17G>T
|
|
|
|
NM_000293.3(PHKB):c.2630+7G>A
|
|
|
|
NM_000293.3(PHKB):c.2631-14C>T
|
|
|
|
NM_000293.3(PHKB):c.2631-15C>T
|
|
|
|
NM_000293.3(PHKB):c.2631-16C>G
|
|
|
|
NM_000293.3(PHKB):c.2631-6T>A
|
|
|
|
NM_000293.3(PHKB):c.2633G>A (p.Trp878Ter)
|
|
|
|
NM_000293.3(PHKB):c.2637C>T (p.Ile879=)
|
|
|
|
NM_000293.3(PHKB):c.2652G>A (p.Glu884=)
|
|
|
|
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala)
|
|
|
|
NM_000293.3(PHKB):c.2667C>A (p.Ile889=)
|
|
|
|
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
|
rs2142102160
|
|
|
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg)
|
rs2142102195
|
|
|
NM_000293.3(PHKB):c.2709A>G (p.Ser903=)
|
|
|
|
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg)
|
rs886052023
|
|
|
NM_000293.3(PHKB):c.2745G>A (p.Leu915=)
|
|
|
|
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys)
|
|
|
|
NM_000293.3(PHKB):c.2760T>C (p.Asn920=)
|
|
|
|
NM_000293.3(PHKB):c.2765+10G>A
|
|
|
|
NM_000293.3(PHKB):c.2765+11C>A
|
|
|
|
NM_000293.3(PHKB):c.2765+11C>T
|
|
|
|
NM_000293.3(PHKB):c.2765+14C>G
|
|
|
|
NM_000293.3(PHKB):c.2765+14C>T
|
|
|
|
NM_000293.3(PHKB):c.2765+15T>C
|
|
|
|
NM_000293.3(PHKB):c.2765+7A>C
|
|
|
|
NM_000293.3(PHKB):c.2766-12C>T
|
|
|
|
NM_000293.3(PHKB):c.2766-14G>C
|
|
|
|
NM_000293.3(PHKB):c.2766-14G>T
|
rs375250621
|
|
|
NM_000293.3(PHKB):c.2766-18A>G
|
|
|
|
NM_000293.3(PHKB):c.2766-5T>A
|
|
|
|
NM_000293.3(PHKB):c.2766-9T>C
|
|
|
|
NM_000293.3(PHKB):c.2772G>A (p.Trp924Ter)
|
|
|
|
NM_000293.3(PHKB):c.2778C>T (p.Asn926=)
|
|
|
|
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
|
rs766073838
|
|
|
NM_000293.3(PHKB):c.2783G>A (p.Arg928His)
|
rs556303193
|
|
|
NM_000293.3(PHKB):c.2790C>T (p.Ile930=)
|
|
|
|
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
|
rs373243537
|
|
|
NM_000293.3(PHKB):c.279G>A (p.Gly93=)
|
|
|
|
NM_000293.3(PHKB):c.27A>C (p.Ala9=)
|
|
|
|
NM_000293.3(PHKB):c.27A>G (p.Ala9=)
|
|
|
|
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg)
|
rs2142106902
|
|
|
NM_000293.3(PHKB):c.2817C>T (p.Thr939=)
|
|
|
|
NM_000293.3(PHKB):c.2817dup (p.Gly940fs)
|
|
|
|
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys)
|
|
|
|
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
|
rs1974096940
|
|
|
NM_000293.3(PHKB):c.2835G>A (p.Val945=)
|
|
|
|
NM_000293.3(PHKB):c.2839C>T (p.Gln947Ter)
|
|
|
|
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu)
|
|
|
|
NM_000293.3(PHKB):c.2856G>T (p.Thr952=)
|
|
|
|
NM_000293.3(PHKB):c.2858C>T (p.Pro953Leu)
|
|
|
|
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)
|
|
|
|
NM_000293.3(PHKB):c.2871T>A (p.Ile957=)
|
|
|
|
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val)
|
|
|
|
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)
|
rs776773729
|
|
|
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg)
|
|
|
|
NM_000293.3(PHKB):c.2895+13C>T
|
|
|
|
NM_000293.3(PHKB):c.2895+14A>G
|
|
|
|
NM_000293.3(PHKB):c.2895+15T>C
|
|
|
|
NM_000293.3(PHKB):c.2895+1G>A
|
|
|
|
NM_000293.3(PHKB):c.2896-19G>A
|
|
|
|
NM_000293.3(PHKB):c.2896-1G>T
|
|
|
|
NM_000293.3(PHKB):c.2896-4dup
|
|
|
|
NM_000293.3(PHKB):c.2898A>G (p.Gln966=)
|
|
|
|
NM_000293.3(PHKB):c.2901A>C (p.Pro967=)
|
|
|
|
NM_000293.3(PHKB):c.2907G>A (p.Leu969=)
|
|
|
|
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
|
|
|
|
NM_000293.3(PHKB):c.2925T>C (p.Tyr975=)
|
|
|
|
NM_000293.3(PHKB):c.294T>A (p.Ala98=)
|
|
|
|
NM_000293.3(PHKB):c.2959T>C (p.Leu987=)
|
|
|
|
NM_000293.3(PHKB):c.2970T>C (p.Ile990=)
|
|
|
|
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr)
|
|
|
|
NM_000293.3(PHKB):c.297T>C (p.Leu99=)
|
|
|
|
NM_000293.3(PHKB):c.2982G>A (p.Gln994=)
|
|
|
|
NM_000293.3(PHKB):c.2985C>T (p.Tyr995=)
|
|
|
|
NM_000293.3(PHKB):c.2994C>T (p.Ile998=)
|
|
|
|
NM_000293.3(PHKB):c.3003+12G>A
|
|
|
|
NM_000293.3(PHKB):c.3003+12del
|
|
|
|
NM_000293.3(PHKB):c.3003+2T>C
|
|
|
|
NM_000293.3(PHKB):c.3003+6T>C
|
|
|
|
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=)
|
|
|
|
NM_000293.3(PHKB):c.3004-11G>C
|
|
|
|
NM_000293.3(PHKB):c.3004-18A>G
|
|
|
|
NM_000293.3(PHKB):c.3004-2A>G
|
|
|
|
NM_000293.3(PHKB):c.3004-7C>G
|
|
|
|
NM_000293.3(PHKB):c.300A>G (p.Ala100=)
|
|
|
|
NM_000293.3(PHKB):c.3015T>G (p.Val1005=)
|
|
|
|
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
|
rs1974189408
|
|
|
NM_000293.3(PHKB):c.3018A>G (p.Val1006=)
|
|
|
|
NM_000293.3(PHKB):c.3021C>A (p.Ser1007=)
|
|
|
|
NM_000293.3(PHKB):c.3024T>C (p.Ile1008=)
|
|
|
|
NM_000293.3(PHKB):c.3038del (p.Asn1013fs)
|
|
|
|
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys)
|
rs151222947
|
|
|
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
|
rs151222947
|
|
|
NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val)
|
|
|
|
NM_000293.3(PHKB):c.305+11G>A
|
rs368293023
|
|
|
NM_000293.3(PHKB):c.305+13G>A
|
|
|
|
NM_000293.3(PHKB):c.305+20C>T
|
|
|
|
NM_000293.3(PHKB):c.305+21_305+23del
|
|
|
|
NM_000293.3(PHKB):c.305+2T>C
|
|
|
|
NM_000293.3(PHKB):c.305+7T>C
|
|
|
|
NM_000293.3(PHKB):c.3051A>G (p.Glu1017=)
|
|
|
|
NM_000293.3(PHKB):c.306-15A>C
|
|
|
|
NM_000293.3(PHKB):c.306-4C>T
|
|
|
|
NM_000293.3(PHKB):c.3066A>G (p.Val1022=)
|
|
|
|
NM_000293.3(PHKB):c.3079C>T (p.Leu1027=)
|
|
|
|
NM_000293.3(PHKB):c.307C>A (p.Arg103=)
|
|
|
|
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)
|
|
|
|
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)
|
|
|
|
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser)
|
|
|
|
NM_000293.3(PHKB):c.3108A>G (p.Gln1036=)
|
|
|
|
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
|
rs375008974
|
|
|
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly)
|
|
|
|
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr)
|
|
|
|
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs)
|
rs778012017
|
|
|
NM_000293.3(PHKB):c.3144+11A>G
|
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insC
|
|
|
|
NM_000293.3(PHKB):c.3144+17_3144+18insCT
|
|
|
|
NM_000293.3(PHKB):c.3144+23_3144+34del
|
|
|
|
NM_000293.3(PHKB):c.3144+24_3144+34del
|
|
|
|
NM_000293.3(PHKB):c.3144+33_3144+34dup
|
rs5816579
|
|
|
NM_000293.3(PHKB):c.3144+34del
|
rs5816579
|
|
|
NM_000293.3(PHKB):c.3144+7A>G
|
|
|
|
NM_000293.3(PHKB):c.3144+9A>G
|
|
|
|
NM_000293.3(PHKB):c.3145-14G>A
|
|
|
|
NM_000293.3(PHKB):c.3145-14_3145-7del
|
rs759760999
|
|
|
NM_000293.3(PHKB):c.3145-15dup
|
|
|
|
NM_000293.3(PHKB):c.3145-20C>A
|
|
|
|
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys)
|
|
|
|
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr)
|
|
|
|
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)
|
|
|
|
NM_000293.3(PHKB):c.3213G>A (p.Lys1071=)
|
|
|
|
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val)
|
|
|
|
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys)
|
|
|
|
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser)
|
rs1405663204
|
|
|
NM_000293.3(PHKB):c.3228G>T (p.Leu1076=)
|
|
|
|
NM_000293.3(PHKB):c.3231G>A (p.Leu1077=)
|
|
|
|
NM_000293.3(PHKB):c.3234G>A (p.Leu1078=)
|
|
|
|
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala)
|
|
|
|
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)
|
|
|
|
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)
|
|
|
|
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
|
rs764639480
|
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
|
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val)
|
|
|
|
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?)
|
|
|
|
NM_000293.3(PHKB):c.3282G>A (p.Ter1094=)
|
|
|
|
NM_000293.3(PHKB):c.330G>A (p.Arg110=)
|
|
|
|
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)
|
|
|
|
NM_000293.3(PHKB):c.341dup (p.Glu115fs)
|
|
|
|
NM_000293.3(PHKB):c.363C>T (p.Cys121=)
|
|
|
|
NM_000293.3(PHKB):c.369_370del (p.Gly124fs)
|
|
|
|
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)
|
|
|
|
NM_000293.3(PHKB):c.381C>T (p.Tyr127=)
|
|
|
|
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys)
|
rs774882825
|
|
|
NM_000293.3(PHKB):c.38G>A (p.Trp13Ter)
|
|
|
|
NM_000293.3(PHKB):c.399C>T (p.Ala133=)
|
|
|
|
NM_000293.3(PHKB):c.405+10T>G
|
|
|
|
NM_000293.3(PHKB):c.405+11G>T
|
|
|
|
NM_000293.3(PHKB):c.405+14G>A
|
|
|
|
NM_000293.3(PHKB):c.405+15T>C
|
|
|
|
NM_000293.3(PHKB):c.405+16G>T
|
|
|
|
NM_000293.3(PHKB):c.405+19G>A
|
|
|
|
NM_000293.3(PHKB):c.405+1G>T
|
|
|
|
NM_000293.3(PHKB):c.405+7C>T
|
|
|
|
NM_000293.3(PHKB):c.405+8A>G
|
|
|
|
NM_000293.3(PHKB):c.405+8_405+10del
|
rs2151644461
|
|
|
NM_000293.3(PHKB):c.405+9T>A
|
|
|
|
NM_000293.3(PHKB):c.405+9T>C
|
|
|
|
NM_000293.3(PHKB):c.406-14A>G
|
|
|
|
NM_000293.3(PHKB):c.406G>A (p.Val136Ile)
|
|
|
|
NM_000293.3(PHKB):c.42G>A (p.Lys14=)
|
|
|
|
NM_000293.3(PHKB):c.431G>A (p.Arg144His)
|
rs768399607
|
|
|
NM_000293.3(PHKB):c.432C>T (p.Arg144=)
|
|
|
|
NM_000293.3(PHKB):c.438A>G (p.Thr146=)
|
|
|
|
NM_000293.3(PHKB):c.441A>T (p.Thr147=)
|
|
|
|
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)
|
|
|
|
NM_000293.3(PHKB):c.444T>C (p.Cys148=)
|
|
|
|
NM_000293.3(PHKB):c.45C>T (p.Val15=)
|
|
|
|
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)
|
|
|
|
NM_000293.3(PHKB):c.474A>G (p.Gly158=)
|
|
|
|
NM_000293.3(PHKB):c.496G>T (p.Glu166Ter)
|
|
|
|
NM_000293.3(PHKB):c.505C>T (p.His169Tyr)
|
|
|
|
NM_000293.3(PHKB):c.513+11A>G
|
|
|
|
NM_000293.3(PHKB):c.513+14A>T
|
|
|
|
NM_000293.3(PHKB):c.513+17C>T
|
|
|
|
NM_000293.3(PHKB):c.513+2T>A
|
|
|
|
NM_000293.3(PHKB):c.514-12T>C
|
|
|
|
NM_000293.3(PHKB):c.514-19_514-15del
|
|
|
|
NM_000293.3(PHKB):c.525G>A (p.Val175=)
|
|
|
|
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro)
|
rs770841932
|
|
|
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys)
|
|
|
|
NM_000293.3(PHKB):c.543C>T (p.Tyr181=)
|
|
|
|
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
|
rs1970580865
|
|
|
NM_000293.3(PHKB):c.546T>G (p.Leu182=)
|
|
|
|
NM_000293.3(PHKB):c.566del (p.Gly189fs)
|
|
|
|
NM_000293.3(PHKB):c.570C>A (p.Leu190=)
|
|
|
|
NM_000293.3(PHKB):c.570_576delinsAC (p.Gln191fs)
|
rs2151651792
|
|
|
NM_000293.3(PHKB):c.571C>G (p.Gln191Glu)
|
rs2151651796
|
|
|
NM_000293.3(PHKB):c.573_577del (p.Gln191fs)
|
rs1233197046
|
|
|
NM_000293.3(PHKB):c.589G>A (p.Asp197Asn)
|
|
|
|
NM_000293.3(PHKB):c.594+10C>T
|
|
|
|
NM_000293.3(PHKB):c.594+4T>G
|
|
|
|
NM_000293.3(PHKB):c.594+9T>C
|
|
|
|
NM_000293.3(PHKB):c.595-13C>A
|
|
|
|
NM_000293.3(PHKB):c.595-18C>T
|
|
|
|
NM_000293.3(PHKB):c.595-1G>A
|
rs2151672494
|
|
|
NM_000293.3(PHKB):c.595-6T>C
|
|
|
|
NM_000293.3(PHKB):c.595-7C>A
|
|
|
|
NM_000293.3(PHKB):c.597C>T (p.Val199=)
|
|
|
|
NM_000293.3(PHKB):c.615T>C (p.Leu205=)
|
|
|
|
NM_000293.3(PHKB):c.618A>G (p.Val206=)
|
|
|
|
NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)
|
|
|
|
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
|
rs1971192807
|
|
|
NM_000293.3(PHKB):c.636T>C (p.Val212=)
|
|
|
|
NM_000293.3(PHKB):c.641G>A (p.Arg214His)
|
|
|
|
NM_000293.3(PHKB):c.642T>C (p.Arg214=)
|
|
|
|
NM_000293.3(PHKB):c.645G>T (p.Val215=)
|
|
|
|
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg)
|
|
|
|
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly)
|
|
|
|
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln)
|
rs866677615
|
|
|
NM_000293.3(PHKB):c.66C>T (p.Thr22=)
|
|
|
|
NM_000293.3(PHKB):c.672A>G (p.Gly224=)
|
|
|
|
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys)
|
|
|
|
NM_000293.3(PHKB):c.687T>C (p.Asn229=)
|
|
|
|
NM_000293.3(PHKB):c.696A>G (p.Thr232=)
|
|
|
|
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala)
|
|
|
|
NM_000293.3(PHKB):c.6G>C (p.Ala2=)
|
|
|
|
NM_000293.3(PHKB):c.6G>T (p.Ala2=)
|
|
|
|
NM_000293.3(PHKB):c.703C>T (p.His235Tyr)
|
rs886052021
|
|
|
NM_000293.3(PHKB):c.708G>A (p.Ser236=)
|
|
|
|
NM_000293.3(PHKB):c.710+14T>A
|
|
|
|
NM_000293.3(PHKB):c.710+19A>C
|
|
|
|
NM_000293.3(PHKB):c.710+1G>T
|
|
|
|
NM_000293.3(PHKB):c.710+20G>A
|
|
|
|
NM_000293.3(PHKB):c.710+20G>T
|
|
|
|
NM_000293.3(PHKB):c.710+4A>G
|
|
|
|
NM_000293.3(PHKB):c.711-10T>C
|
|
|
|
NM_000293.3(PHKB):c.711-12T>A
|
|
|
|
NM_000293.3(PHKB):c.711-4T>C
|
|
|
|
NM_000293.3(PHKB):c.713C>A (p.Ser238Ter)
|
|
|
|
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
|
rs748242735
|
|
|
NM_000293.3(PHKB):c.714G>T (p.Ser238=)
|
rs772326970
|
|
|
NM_000293.3(PHKB):c.716T>C (p.Val239Ala)
|
rs761032231
|
|
|
NM_000293.3(PHKB):c.720T>C (p.Gly240=)
|
|
|
|
NM_000293.3(PHKB):c.72C>T (p.Arg24=)
|
|
|
|
NM_000293.3(PHKB):c.731C>T (p.Ala244Val)
|
|
|
|
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr)
|
|
|
|
NM_000293.3(PHKB):c.735T>C (p.Ala245=)
|
|
|
|
NM_000293.3(PHKB):c.738A>G (p.Leu246=)
|
|
|
|
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly)
|
|
|
|
NM_000293.3(PHKB):c.744A>C (p.Ala248=)
|
|
|
|
NM_000293.3(PHKB):c.76+10G>T
|
|
|
|
NM_000293.3(PHKB):c.76+15G>T
|
|
|
|
NM_000293.3(PHKB):c.76+18G>A
|
|
|
|
NM_000293.3(PHKB):c.76+20C>T
|
|
|
|
NM_000293.3(PHKB):c.76+2527T>A
|
|
|
|
NM_000293.3(PHKB):c.76+2530T>G
|
|
|
|
NM_000293.3(PHKB):c.76+2533A>C
|
|
|
|
NM_000293.3(PHKB):c.76+2542T>C
|
|
|
|
NM_000293.3(PHKB):c.76+2544C>T
|
|
|
|
NM_000293.3(PHKB):c.76+2545G>C
|
|
|
|
NM_000293.3(PHKB):c.76+2551C>T
|
|
|
|
NM_000293.3(PHKB):c.76+2562G>C
|
|
|
|
NM_000293.3(PHKB):c.76+2568G>A
|
|
|
|
NM_000293.3(PHKB):c.76+2574G>C
|
|
|
|
NM_000293.3(PHKB):c.76+2575T>G
|
|
|
|
NM_000293.3(PHKB):c.76+2584C>A
|
|
|
|
NM_000293.3(PHKB):c.76+2585C>G
|
|
|
|
NM_000293.3(PHKB):c.76+2586A>G
|
|
|
|
NM_000293.3(PHKB):c.76+4T>G
|
|
|
|
NM_000293.3(PHKB):c.76+8T>A
|
|
|
|
NM_000293.3(PHKB):c.77-17T>C
|
|
|
|
NM_000293.3(PHKB):c.77-18T>C
|
|
|
|
NM_000293.3(PHKB):c.77-1G>A
|
|
|
|
NM_000293.3(PHKB):c.77-8T>C
|
|
|
|
NM_000293.3(PHKB):c.77-8dup
|
|
|
|
NM_000293.3(PHKB):c.774+12G>A
|
|
|
|
NM_000293.3(PHKB):c.774+16C>T
|
|
|
|
NM_000293.3(PHKB):c.774+20G>A
|
|
|
|
NM_000293.3(PHKB):c.775-15T>G
|
|
|
|
NM_000293.3(PHKB):c.775-17T>G
|
|
|
|
NM_000293.3(PHKB):c.775-18T>C
|
|
|
|
NM_000293.3(PHKB):c.775-1G>A
|
|
|
|
NM_000293.3(PHKB):c.775-20T>G
|
|
|
|
NM_000293.3(PHKB):c.775-7T>C
|
|
|
|
NM_000293.3(PHKB):c.783G>A (p.Ser261=)
|
|
|
|
NM_000293.3(PHKB):c.798T>C (p.Phe266=)
|
|
|
|
NM_000293.3(PHKB):c.807C>T (p.Leu269=)
|
|
|
|
NM_000293.3(PHKB):c.80C>G (p.Ser27Ter)
|
|
|
|
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)
|
|
|
|
NM_000293.3(PHKB):c.81A>C (p.Ser27=)
|
|
|
|
NM_000293.3(PHKB):c.821G>A (p.Arg274His)
|
|
|
|
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu)
|
|
|
|
NM_000293.3(PHKB):c.843G>A (p.Ser281=)
|
|
|
|
NM_000293.3(PHKB):c.856G>T (p.Glu286Ter)
|
|
|
|
NM_000293.3(PHKB):c.868_869del (p.Ser289_His290insTer)
|
|
|
|
NM_000293.3(PHKB):c.870+12A>C
|
|
|
|
NM_000293.3(PHKB):c.870+15_870+17del
|
|
|
|
NM_000293.3(PHKB):c.871-20C>T
|
|
|
|
NM_000293.3(PHKB):c.871-5T>A
|
|
|
|
NM_000293.3(PHKB):c.871-5T>C
|
|
|
|
NM_000293.3(PHKB):c.871-7C>T
|
|
|
|
NM_000293.3(PHKB):c.871-8G>T
|
|
|
|
NM_000293.3(PHKB):c.876A>G (p.Thr292=)
|
|
|
|
NM_000293.3(PHKB):c.886C>T (p.Leu296=)
|
|
|
|
NM_000293.3(PHKB):c.906T>C (p.Tyr302=)
|
|
|
|
NM_000293.3(PHKB):c.921G>A (p.Leu307=)
|
|
|
|
NM_000293.3(PHKB):c.928G>T (p.Glu310Ter)
|
|
|
|
NM_000293.3(PHKB):c.93del (p.Ser34fs)
|
|
|
|
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg)
|
rs775139159
|
|
|
NM_000293.3(PHKB):c.943C>T (p.Gln315Ter)
|
|
|
|
NM_000293.3(PHKB):c.951T>C (p.Leu317=)
|
|
|
|
NM_000293.3(PHKB):c.951dup (p.Asp318Ter)
|
|
|
|
NM_000293.3(PHKB):c.995G>A (p.Arg332His)
|
|
|
|
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro)
|
|
|
|
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
|
|
|
|
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del
|
|
|
|
NM_000294.2(PHKG2):c.-118G>A
|
rs1361898035
|
|
|
NM_000294.2(PHKG2):c.-162C>T
|
rs938838075
|
|
|
NM_000294.3(PHKG2):c.-76G>C
|
rs2053281054
|
|
|
NM_000294.3(PHKG2):c.1002T>C (p.Asn334=)
|
|
|
|
NM_000294.3(PHKG2):c.1008G>T (p.Leu336=)
|
|
|
|
NM_000294.3(PHKG2):c.1012A>C (p.Arg338=)
|
|
|
|
NM_000294.3(PHKG2):c.1017C>T (p.Asp339=)
|
|
|
|
NM_000294.3(PHKG2):c.1023T>C (p.Tyr341=)
|
|
|
|
NM_000294.3(PHKG2):c.1027C>T (p.Leu343=)
|
|
|
|
NM_000294.3(PHKG2):c.1032G>A (p.Arg344=)
|
|
|
|
NM_000294.3(PHKG2):c.1032G>T (p.Arg344=)
|
|
|
|
NM_000294.3(PHKG2):c.1035A>G (p.Ser345=)
|
rs2151310822
|
|
|
NM_000294.3(PHKG2):c.1044C>T (p.His348=)
|
|
|
|
NM_000294.3(PHKG2):c.1050C>A (p.Ile350=)
|
|
|
|
NM_000294.3(PHKG2):c.1050C>T (p.Ile350=)
|
rs371914785
|
|
|
NM_000294.3(PHKG2):c.1053C>T (p.Asp351=)
|
|
|
|
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
|
rs762089284
|
|
|
NM_000294.3(PHKG2):c.1074C>T (p.Tyr358=)
|
|
|
|
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
|
rs747926397
|
|
|
NM_000294.3(PHKG2):c.1089G>A (p.Lys363=)
|
|
|
|
NM_000294.3(PHKG2):c.1095G>A (p.Gly365=)
|
|
|
|
NM_000294.3(PHKG2):c.1113G>A (p.Ala371=)
|
|
|
|
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
|
|
|
|
NM_000294.3(PHKG2):c.1134C>T (p.Pro378=)
|
|
|
|
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
|
|
|
|
NM_000294.3(PHKG2):c.1143T>A (p.Pro381=)
|
|
|
|
NM_000294.3(PHKG2):c.1143T>C (p.Pro381=)
|
|
|
|
NM_000294.3(PHKG2):c.1149C>G (p.Pro383=)
|
|
|
|
NM_000294.3(PHKG2):c.114C>G (p.Val38=)
|
|
|
|
NM_000294.3(PHKG2):c.114C>T (p.Val38=)
|
|
|
|
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
|
|
|
|
NM_000294.3(PHKG2):c.1170G>A (p.Glu390=)
|
|
|
|
NM_000294.3(PHKG2):c.1179T>C (p.Ser393=)
|
|
|
|
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)
|
rs886051914
|
|
|
NM_000294.3(PHKG2):c.1191T>C (p.Thr397=)
|
|
|
|
NM_000294.3(PHKG2):c.1203C>T (p.Ala401=)
|
|
|
|
NM_000294.3(PHKG2):c.1206G>T (p.Val402=)
|
|
|
|
NM_000294.3(PHKG2):c.1215G>A (p.Leu405=)
|
|
|
|
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
|
|
|
|
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)
|
rs137853590
|
|
|
NM_000294.3(PHKG2):c.138T>G (p.Thr46=)
|
|
|
|
NM_000294.3(PHKG2):c.144C>T (p.His48=)
|
|
|
|
NM_000294.3(PHKG2):c.156G>A (p.Val52=)
|
|
|
|
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
|
rs2053338364
|
|
|
NM_000294.3(PHKG2):c.177T>C (p.Ala59=)
|
|
|
|
NM_000294.3(PHKG2):c.180G>A (p.Glu60=)
|
|
|
|
NM_000294.3(PHKG2):c.189T>C (p.Ser63=)
|
|
|
|
NM_000294.3(PHKG2):c.18G>T (p.Gly6=)
|
|
|
|
NM_000294.3(PHKG2):c.199C>T (p.Leu67=)
|
|
|
|
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
|
|
|
|
NM_000294.3(PHKG2):c.21G>C (p.Pro7=)
|
|
|
|
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
|
rs2053339231
|
|
|
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
|
|
|
|
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
|
|
|
|
NM_000294.3(PHKG2):c.24G>A (p.Glu8=)
|
|
|
|
NM_000294.3(PHKG2):c.250del (p.Val84fs)
|
rs1567260747
|
|
|
NM_000294.3(PHKG2):c.252C>T (p.Val84=)
|
|
|
|
NM_000294.3(PHKG2):c.255C>T (p.Ala85=)
|
|
|
|
NM_000294.3(PHKG2):c.264C>G (p.Pro88=)
|
|
|
|
NM_000294.3(PHKG2):c.265dup (p.His89fs)
|
|
|
|
NM_000294.3(PHKG2):c.271+12T>C
|
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
|
NM_000294.3(PHKG2):c.271+19C>T
|
|
|
|
NM_000294.3(PHKG2):c.271+6G>A
|
rs767677860
|
|
|
NM_000294.3(PHKG2):c.272-12C>G
|
|
|
|
NM_000294.3(PHKG2):c.272-12C>T
|
|
|
|
NM_000294.3(PHKG2):c.272-15T>C
|
|
|
|
NM_000294.3(PHKG2):c.272-18C>T
|
|
|
|
NM_000294.3(PHKG2):c.272-9T>C
|
|
|
|
NM_000294.3(PHKG2):c.273C>T (p.Ile91=)
|
|
|
|
NM_000294.3(PHKG2):c.276C>T (p.Thr92=)
|
|
|
|
NM_000294.3(PHKG2):c.277del (p.Leu93fs)
|
rs1596680941
|
|
|
NM_000294.3(PHKG2):c.282C>T (p.Ile94=)
|
|
|
|
NM_000294.3(PHKG2):c.285T>C (p.Asp95=)
|
|
|
|
NM_000294.3(PHKG2):c.288C>G (p.Ser96=)
|
|
|
|
NM_000294.3(PHKG2):c.291C>T (p.Tyr97=)
|
|
|
|
NM_000294.3(PHKG2):c.313C>T (p.Leu105=)
|
|
|
|
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu)
|
rs137853589
|
|
|
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer)
|
rs1555467052
|
|
|
NM_000294.3(PHKG2):c.326+15G>C
|
|
|
|
NM_000294.3(PHKG2):c.327-15C>T
|
|
|
|
NM_000294.3(PHKG2):c.327-16C>T
|
|
|
|
NM_000294.3(PHKG2):c.327-17G>A
|
|
|
|
NM_000294.3(PHKG2):c.327-7C>T
|
|
|
|
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
|
|
|
|
NM_000294.3(PHKG2):c.334_337del (p.Lys112fs)
|
|
|
|
NM_000294.3(PHKG2):c.336G>A (p.Lys112=)
|
|
|
|
NM_000294.3(PHKG2):c.357C>G (p.Leu119=)
|
|
|
|
NM_000294.3(PHKG2):c.366G>A (p.Lys122=)
|
|
|
|
NM_000294.3(PHKG2):c.369G>T (p.Val123=)
|
|
|
|
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
|
|
|
|
NM_000294.3(PHKG2):c.392+10G>A
|
|
|
|
NM_000294.3(PHKG2):c.392+13C>T
|
|
|
|
NM_000294.3(PHKG2):c.392+18A>C
|
|
|
|
NM_000294.3(PHKG2):c.392+19G>T
|
|
|
|
NM_000294.3(PHKG2):c.392+2T>G
|
|
|
|
NM_000294.3(PHKG2):c.392+7G>T
|
|
|
|
NM_000294.3(PHKG2):c.393-12C>G
|
|
|
|
NM_000294.3(PHKG2):c.393-12C>T
|
|
|
|
NM_000294.3(PHKG2):c.393-18C>T
|
|
|
|
NM_000294.3(PHKG2):c.393-2A>G
|
|
|
|
NM_000294.3(PHKG2):c.393-4C>T
|
rs2053377288
|
|
|
NM_000294.3(PHKG2):c.393-7C>T
|
|
|
|
NM_000294.3(PHKG2):c.420A>G (p.Ala140=)
|
|
|
|
NM_000294.3(PHKG2):c.448G>A (p.Val150Met)
|
rs886051911
|
|
|
NM_000294.3(PHKG2):c.454C>A (p.Arg152=)
|
|
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
|
NM_000294.3(PHKG2):c.459T>C (p.Asp153=)
|
|
|
|
NM_000294.3(PHKG2):c.468C>T (p.Pro156=)
|
|
|
|
NM_000294.3(PHKG2):c.480C>T (p.Leu160=)
|
|
|
|
NM_000294.3(PHKG2):c.489C>T (p.Asp163=)
|
|
|
|
NM_000294.3(PHKG2):c.48C>T (p.Ala16=)
|
|
|
|
NM_000294.3(PHKG2):c.492T>C (p.Asn164=)
|
|
|
|
NM_000294.3(PHKG2):c.519G>T (p.Gly173=)
|
|
|
|
NM_000294.3(PHKG2):c.51C>T (p.Ala17=)
|
|
|
|
NM_000294.3(PHKG2):c.531C>T (p.His177=)
|
|
|
|
NM_000294.3(PHKG2):c.539del (p.Pro180fs)
|
rs2053379013
|
|
|
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
|
|
|
|
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
|
rs2053379091
|
|
|
NM_000294.3(PHKG2):c.543C>A (p.Gly181=)
|
|
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
|
NM_000294.3(PHKG2):c.556+14G>A
|
|
|
|
NM_000294.3(PHKG2):c.556+18C>T
|
|
|
|
NM_000294.3(PHKG2):c.556+8G>T
|
|
|
|
NM_000294.3(PHKG2):c.557-13C>T
|
|
|
|
NM_000294.3(PHKG2):c.557-1_557delinsAG
|
rs2151310104
|
|
|
NM_000294.3(PHKG2):c.557-20T>C
|
|
|
|
NM_000294.3(PHKG2):c.561G>A (p.Leu187=)
|
|
|
|
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu)
|
rs137853588
|
|
|
NM_000294.3(PHKG2):c.576G>A (p.Gly192=)
|
|
|
|
NM_000294.3(PHKG2):c.591G>A (p.Glu197=)
|
|
|
|
NM_000294.3(PHKG2):c.594C>T (p.Ile198=)
|
|
|
|
NM_000294.3(PHKG2):c.612T>C (p.Asp204=)
|
|
|
|
NM_000294.3(PHKG2):c.618C>T (p.Thr206=)
|
|
|
|
NM_000294.3(PHKG2):c.627C>T (p.Gly209=)
|
|
|
|
NM_000294.3(PHKG2):c.630T>C (p.Tyr210=)
|
|
|
|
NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del)
|
rs2151310152
|
|
|
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
|
|
|
|
NM_000294.3(PHKG2):c.642C>T (p.Val214=)
|
|
|
|
NM_000294.3(PHKG2):c.645C>T (p.Asp215=)
|
|
|
|
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
|
rs2053424230
|
|
|
NM_000294.3(PHKG2):c.647+12G>A
|
|
|
|
NM_000294.3(PHKG2):c.647+14C>T
|
|
|
|
NM_000294.3(PHKG2):c.647+17C>G
|
|
|
|
NM_000294.3(PHKG2):c.647+20C>G
|
|
|
|
NM_000294.3(PHKG2):c.647+20del
|
|
|
|
NM_000294.3(PHKG2):c.648-11C>T
|
|
|
|
NM_000294.3(PHKG2):c.648-13G>A
|
|
|
|
NM_000294.3(PHKG2):c.648-15C>T
|
|
|
|
NM_000294.3(PHKG2):c.648-2_648del
|
|
|
|
NM_000294.3(PHKG2):c.648-4C>G
|
|
|
|
NM_000294.3(PHKG2):c.648-7T>C
|
|
|
|
NM_000294.3(PHKG2):c.657del (p.Cys219fs)
|
rs1596687555
|
|
|
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)
|
rs1596687577
|
|
|
NM_000294.3(PHKG2):c.663G>A (p.Val221=)
|
|
|
|
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter)
|
rs1555467557
|
|
|
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg)
|
rs137853592
|
|
|
NM_000294.3(PHKG2):c.678C>T (p.Leu226=)
|
|
|
|
NM_000294.3(PHKG2):c.690G>A (p.Ser230=)
|
|
|
|
NM_000294.3(PHKG2):c.696C>G (p.Pro232=)
|
|
|
|
NM_000294.3(PHKG2):c.6G>T (p.Thr2=)
|
|
|
|
NM_000294.3(PHKG2):c.705C>T (p.His235=)
|
|
|
|
NM_000294.3(PHKG2):c.718C>T (p.Leu240=)
|
|
|
|
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
|
rs1596677187
|
|
|
NM_000294.3(PHKG2):c.720G>A (p.Leu240=)
|
|
|
|
NM_000294.3(PHKG2):c.729C>T (p.Arg243=)
|
|
|
|
NM_000294.3(PHKG2):c.72C>A (p.Tyr24Ter)
|
|
|
|
NM_000294.3(PHKG2):c.72C>T (p.Tyr24=)
|
|
|
|
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter)
|
rs2053428286
|
|
|
NM_000294.3(PHKG2):c.756C>T (p.Phe252=)
|
|
|
|
NM_000294.3(PHKG2):c.765C>T (p.Pro255=)
|
|
|
|
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
|
|
|
|
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
|
|
|
|
NM_000294.3(PHKG2):c.783del (p.Ser262fs)
|
rs1372753669
|
|
|
NM_000294.3(PHKG2):c.786C>T (p.Ser262=)
|
|
|
|
NM_000294.3(PHKG2):c.789T>C (p.Thr263=)
|
|
|
|
NM_000294.3(PHKG2):c.7C>T (p.Leu3=)
|
|
|
|
NM_000294.3(PHKG2):c.800_801+34del
|
rs2151310413
|
|
|
NM_000294.3(PHKG2):c.801+10G>T
|
|
|
|
NM_000294.3(PHKG2):c.801+11G>A
|
|
|
|
NM_000294.3(PHKG2):c.801+13T>C
|
|
|
|
NM_000294.3(PHKG2):c.801+14G>C
|
|
|
|
NM_000294.3(PHKG2):c.801+15A>G
|
|
|
|
NM_000294.3(PHKG2):c.801+17A>G
|
|
|
|
NM_000294.3(PHKG2):c.801+20del
|
|
|
|
NM_000294.3(PHKG2):c.801+7G>A
|
|
|
|
NM_000294.3(PHKG2):c.802-10T>G
|
|
|
|
NM_000294.3(PHKG2):c.802-11G>C
|
|
|
|
NM_000294.3(PHKG2):c.802-13G>T
|
|
|
|
NM_000294.3(PHKG2):c.802-16T>C
|
|
|
|
NM_000294.3(PHKG2):c.802-2A>C
|
|
|
|
NM_000294.3(PHKG2):c.813G>A (p.Leu271=)
|
|
|
|
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
|
|
|
|
NM_000294.3(PHKG2):c.831G>A (p.Glu277=)
|
|
|
|
NM_000294.3(PHKG2):c.836G>A (p.Arg279His)
|
rs2151310526
|
|
|
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
|
|
|
|
NM_000294.3(PHKG2):c.852G>A (p.Gln284=)
|
|
|
|
NM_000294.3(PHKG2):c.855C>A (p.Ala285=)
|
|
|
|
NM_000294.3(PHKG2):c.867C>G (p.Pro289=)
|
|
|
|
NM_000294.3(PHKG2):c.870C>T (p.Phe290=)
|
|
|
|
NM_000294.3(PHKG2):c.879T>C (p.Arg293=)
|
|
|
|
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
|
|
|
|
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
|
|
|
|
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
|
|
|
|
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro)
|
rs780358808
|
|
|
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
|
|
|
|
NM_000294.3(PHKG2):c.913dup (p.Arg305fs)
|
rs2151310570
|
|
|
NM_000294.3(PHKG2):c.918G>A (p.Gln306=)
|
|
|
|
NM_000294.3(PHKG2):c.927+12T>C
|
|
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
|
NM_000294.3(PHKG2):c.927+15A>G
|
|
|
|
NM_000294.3(PHKG2):c.927+15A>T
|
|
|
|
NM_000294.3(PHKG2):c.927+19G>T
|
|
|
|
NM_000294.3(PHKG2):c.927+1G>A
|
rs1445993948
|
|
|
NM_000294.3(PHKG2):c.927+7C>T
|
|
|
|
NM_000294.3(PHKG2):c.927+8T>C
|
|
|
|
NM_000294.3(PHKG2):c.928-12C>T
|
|
|
|
NM_000294.3(PHKG2):c.928-13C>A
|
|
|
|
NM_000294.3(PHKG2):c.928-13C>T
|
|
|
|
NM_000294.3(PHKG2):c.928-16C>T
|
|
|
|
NM_000294.3(PHKG2):c.928-20C>T
|
|
|
|
NM_000294.3(PHKG2):c.928-5C>G
|
|
|
|
NM_000294.3(PHKG2):c.928-8C>G
|
|
|
|
NM_000294.3(PHKG2):c.928-9C>A
|
|
|
|
NM_000294.3(PHKG2):c.928-9C>G
|
rs886051913
|
|
|
NM_000294.3(PHKG2):c.948G>C (p.Leu316=)
|
|
|
|
NM_000294.3(PHKG2):c.95+12G>A
|
|
|
|
NM_000294.3(PHKG2):c.95+12G>T
|
|
|
|
NM_000294.3(PHKG2):c.95+15A>G
|
|
|
|
NM_000294.3(PHKG2):c.957A>G (p.Gly319=)
|
|
|
|
NM_000294.3(PHKG2):c.96-12C>T
|
|
|
|
NM_000294.3(PHKG2):c.96-14T>C
|
|
|
|
NM_000294.3(PHKG2):c.96-18A>G
|
|
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
|
NM_000294.3(PHKG2):c.966C>T (p.Ala322=)
|
|
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_000294.3(PHKG2):c.993G>A (p.Leu331=)
|
|
|
|
NM_000294.3(PHKG2):c.996C>T (p.Thr332=)
|
|
|
|
NM_000294.3(PHKG2):c.9G>A (p.Leu3=)
|
|
|
|
NM_000298.6(PKLR):c.*13T>C
|
rs1052177
|
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
|
NM_000298.6(PKLR):c.1015del (p.Asp339fs)
|
rs1193689718
|
|
|
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
|
|
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
|
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)
|
rs752423472
|
|
|
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
|
|
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
|
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)
|
rs118204084
|
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
|
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
|
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
|
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
|
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)
|
rs1674554041
|
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
|
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)
|
rs2148218886
|
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
|
NM_000298.6(PKLR):c.375+10G>T
|
rs8177971
|
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
|
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)
|
rs118204089
|
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
|
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)
|
rs118204083
|
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
|
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
|
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
|
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
|
|
|
|
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter)
|
|
|
|
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
|
|
|
|
NM_000298.6(PKLR):c.826del (p.Val276fs)
|
rs754939638
|
|
|
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
|
|
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
|
NM_000308.3(CTSA):c.6T>C (p.Thr2=)
|
|
|
|
NM_000308.4(CTSA):c.-1+10C>T
|
|
|
|
NM_000308.4(CTSA):c.-1+12C>T
|
|
|
|
NM_000308.4(CTSA):c.-1+13C>T
|
|
|
|
NM_000308.4(CTSA):c.-1+16A>G
|
|
|
|
NM_000308.4(CTSA):c.-1+18G>A
|
|
|
|
NM_000308.4(CTSA):c.-1+6C>A
|
rs1164857603
|
|
|
NM_000308.4(CTSA):c.-1+7T>C
|
|
|
|
NM_000308.4(CTSA):c.-1+7T>G
|
|
|
|
NM_000308.4(CTSA):c.-1+9G>A
|
|
|
|
NM_000308.4(CTSA):c.-10G>A
|
|
|
|
NM_000308.4(CTSA):c.-15C>T
|
rs188792776
|
|
|
NM_000308.4(CTSA):c.-18G>C
|
rs1227051895
|
|
|
NM_000308.4(CTSA):c.-28T>C
|
|
|
|
NM_000308.4(CTSA):c.-2A>C
|
|
|
|
NM_000308.4(CTSA):c.-31T>C
|
|
|
|
NM_000308.4(CTSA):c.-34G>A
|
|
|
|
NM_000308.4(CTSA):c.-34G>C
|
|
|
|
NM_000308.4(CTSA):c.-40C>T
|
|
|
|
NM_000308.4(CTSA):c.-41C>T
|
rs750301506
|
|
|
NM_000308.4(CTSA):c.1-11G>A
|
|
|
|
NM_000308.4(CTSA):c.1-18C>G
|
|
|
|
NM_000308.4(CTSA):c.1-4G>A
|
|
|
|
NM_000308.4(CTSA):c.1-6C>T
|
|
|
|
NM_000308.4(CTSA):c.1-7C>G
|
|
|
|
NM_000308.4(CTSA):c.1005del (p.Ala336fs)
|
|
|
|
NM_000308.4(CTSA):c.1008T>G (p.Ala336=)
|
|
|
|
NM_000308.4(CTSA):c.1011T>G (p.Ala337=)
|
|
|
|
NM_000308.4(CTSA):c.1019dup (p.Tyr340Ter)
|
|
|
|
NM_000308.4(CTSA):c.1024A>G (p.Asn342Asp)
|
|
|
|
NM_000308.4(CTSA):c.1032G>A (p.Pro344=)
|
|
|
|
NM_000308.4(CTSA):c.1032G>C (p.Pro344=)
|
|
|
|
NM_000308.4(CTSA):c.1035C>A (p.Tyr345Ter)
|
|
|
|
NM_000308.4(CTSA):c.1035C>T (p.Tyr345=)
|
|
|
|
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr)
|
rs780430995
|
|
|
NM_000308.4(CTSA):c.1044G>A (p.Lys348=)
|
|
|
|
NM_000308.4(CTSA):c.1053C>T (p.Asn351=)
|
|
|
|
NM_000308.4(CTSA):c.1059G>C (p.Pro353=)
|
|
|
|
NM_000308.4(CTSA):c.1063C>T (p.Gln355Ter)
|
|
|
|
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro)
|
rs543752177
|
|
|
NM_000308.4(CTSA):c.1073A>G (p.Gln358Arg)
|
|
|
|
NM_000308.4(CTSA):c.1074A>G (p.Gln358=)
|
|
|
|
NM_000308.4(CTSA):c.1087A>G (p.Asn363Asp)
|
|
|
|
NM_000308.4(CTSA):c.1088+11G>A
|
|
|
|
NM_000308.4(CTSA):c.1088+16C>T
|
|
|
|
NM_000308.4(CTSA):c.1088+18C>T
|
|
|
|
NM_000308.4(CTSA):c.1088+1G>A
|
|
|
|
NM_000308.4(CTSA):c.1088+8T>C
|
|
|
|
NM_000308.4(CTSA):c.1089-13A>G
|
|
|
|
NM_000308.4(CTSA):c.1089-15G>A
|
|
|
|
NM_000308.4(CTSA):c.1089-16C>G
|
|
|
|
NM_000308.4(CTSA):c.1089-16C>T
|
|
|
|
NM_000308.4(CTSA):c.1089-3C>A
|
rs764115103
|
|
|
NM_000308.4(CTSA):c.1089-4G>T
|
rs2145822510
|
|
|
NM_000308.4(CTSA):c.1089-6C>T
|
|
|
|
NM_000308.4(CTSA):c.1089-8C>T
|
|
|
|
NM_000308.4(CTSA):c.1096G>A (p.Val366Ile)
|
|
|
|
NM_000308.4(CTSA):c.1099A>G (p.Asn367Asp)
|
|
|
|
NM_000308.4(CTSA):c.1104dup (p.Gln369fs)
|
rs2083116648
|
|
|
NM_000308.4(CTSA):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_000308.4(CTSA):c.1106del (p.Gln369fs)
|
|
|
|
NM_000308.4(CTSA):c.1113C>A (p.Arg371=)
|
|
|
|
NM_000308.4(CTSA):c.1114C>T (p.Arg372Cys)
|
|
|
|
NM_000308.4(CTSA):c.111C>A (p.Arg37=)
|
|
|
|
NM_000308.4(CTSA):c.1122C>T (p.Tyr374=)
|
|
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
|
NM_000308.4(CTSA):c.1158C>T (p.Ser386=)
|
|
|
|
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala)
|
rs1483740187
|
|
|
NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)
|
|
|
|
NM_000308.4(CTSA):c.1164+16A>G
|
|
|
|
NM_000308.4(CTSA):c.1164+9G>A
|
|
|
|
NM_000308.4(CTSA):c.1165-12A>G
|
|
|
|
NM_000308.4(CTSA):c.1165-14C>T
|
|
|
|
NM_000308.4(CTSA):c.1165-15C>A
|
|
|
|
NM_000308.4(CTSA):c.1165-19T>G
|
|
|
|
NM_000308.4(CTSA):c.1184A>G (p.Tyr395Cys)
|
rs137854543
|
|
|
NM_000308.4(CTSA):c.1185T>C (p.Tyr395=)
|
|
|
|
NM_000308.4(CTSA):c.1194T>C (p.Asp398=)
|
|
|
|
NM_000308.4(CTSA):c.1197A>C (p.Val399=)
|
|
|
|
NM_000308.4(CTSA):c.1215_1216insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGGCTCCTCACTTCCCAGAAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCATGGCCTGCAATTTC (p.Phe405_Met406insPhePhePhePhePhePheXaaXaaXaaXaaGluGlyLeuLeuThrSerGlnLysGlyArgProGlyArgGlyAlaProHisLeuProAspGlyAlaAlaGlyMetAlaCysAsnPhe)
|
|
|
|
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu)
|
rs2145823811
|
|
|
NM_000308.4(CTSA):c.1234G>A (p.Val412Met)
|
|
|
|
NM_000308.4(CTSA):c.1239T>C (p.Asp413=)
|
|
|
|
NM_000308.4(CTSA):c.1242C>T (p.Ser414=)
|
|
|
|
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser)
|
rs2145823832
|
|
|
NM_000308.4(CTSA):c.1254+11G>C
|
|
|
|
NM_000308.4(CTSA):c.1254+15C>T
|
|
|
|
NM_000308.4(CTSA):c.1254+19G>A
|
|
|
|
NM_000308.4(CTSA):c.1254+5G>T
|
|
|
|
NM_000308.4(CTSA):c.1254+6del
|
rs1433470100
|
|
|
NM_000308.4(CTSA):c.1254+8A>G
|
|
|
|
NM_000308.4(CTSA):c.1255-18T>C
|
|
|
|
NM_000308.4(CTSA):c.1255-1G>A
|
|
|
|
NM_000308.4(CTSA):c.1255-3C>A
|
|
|
|
NM_000308.4(CTSA):c.1255-4G>A
|
|
|
|
NM_000308.4(CTSA):c.1255-4G>C
|
|
|
|
NM_000308.4(CTSA):c.1255-7G>A
|
|
|
|
NM_000308.4(CTSA):c.1263G>A (p.Val421=)
|
|
|
|
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
|
|
|
|
NM_000308.4(CTSA):c.1293G>A (p.Gly431=)
|
|
|
|
NM_000308.4(CTSA):c.1294del (p.Asp432fs)
|
|
|
|
NM_000308.4(CTSA):c.1299C>T (p.Ser433=)
|
|
|
|
NM_000308.4(CTSA):c.1305G>A (p.Glu435=)
|
|
|
|
NM_000308.4(CTSA):c.130C>T (p.Gln44Ter)
|
rs1311180360
|
|
|
NM_000308.4(CTSA):c.1311T>C (p.Ile437=)
|
|
|
|
NM_000308.4(CTSA):c.1314C>T (p.Ala438=)
|
|
|
|
NM_000308.4(CTSA):c.1329G>A (p.Glu443=)
|
|
|
|
NM_000308.4(CTSA):c.1341C>A (p.Ile447=)
|
|
|
|
NM_000308.4(CTSA):c.1350C>G (p.Leu450=)
|
|
|
|
NM_000308.4(CTSA):c.1359+12del
|
|
|
|
NM_000308.4(CTSA):c.1359+19G>A
|
|
|
|
NM_000308.4(CTSA):c.1359+19G>T
|
|
|
|
NM_000308.4(CTSA):c.1359+6G>T
|
|
|
|
NM_000308.4(CTSA):c.1360-13C>T
|
|
|
|
NM_000308.4(CTSA):c.1360-16G>A
|
|
|
|
NM_000308.4(CTSA):c.1360-16G>C
|
|
|
|
NM_000308.4(CTSA):c.1360-17C>G
|
|
|
|
NM_000308.4(CTSA):c.1360-17C>T
|
|
|
|
NM_000308.4(CTSA):c.1360-5C>T
|
|
|
|
NM_000308.4(CTSA):c.1360-7T>C
|
|
|
|
NM_000308.4(CTSA):c.1360-8C>A
|
|
|
|
NM_000308.4(CTSA):c.1360-9G>A
|
|
|
|
NM_000308.4(CTSA):c.1362C>T (p.Gly454=)
|
|
|
|
NM_000308.4(CTSA):c.1383C>G (p.Thr461=)
|
|
|
|
NM_000308.4(CTSA):c.1383C>T (p.Thr461=)
|
|
|
|
NM_000308.4(CTSA):c.1395C>T (p.Leu465=)
|
|
|
|
NM_000308.4(CTSA):c.1425G>C (p.Leu475=)
|
rs2083137493
|
|
|
NM_000308.4(CTSA):c.1428C>T (p.Asn476=)
|
|
|
|
NM_000308.4(CTSA):c.143del (p.Arg48fs)
|
|
|
|
NM_000308.4(CTSA):c.1440C>T (p.Tyr480=)
|
|
|
|
NM_000308.4(CTSA):c.15G>A (p.Ala5=)
|
|
|
|
NM_000308.4(CTSA):c.15_19dup (p.Pro7fs)
|
|
|
|
NM_000308.4(CTSA):c.171C>A (p.Ser57=)
|
|
|
|
NM_000308.4(CTSA):c.171C>T (p.Ser57=)
|
|
|
|
NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)
|
|
|
|
NM_000308.4(CTSA):c.189C>T (p.His63=)
|
|
|
|
NM_000308.4(CTSA):c.18G>T (p.Pro6=)
|
|
|
|
NM_000308.4(CTSA):c.191A>C (p.Tyr64Ser)
|
|
|
|
NM_000308.4(CTSA):c.193T>C (p.Trp65Arg)
|
rs28934603
|
|
|
NM_000308.4(CTSA):c.194+3C>T
|
rs1986958974
|
|
|
NM_000308.4(CTSA):c.194+7C>T
|
|
|
|
NM_000308.4(CTSA):c.194+8G>T
|
|
|
|
NM_000308.4(CTSA):c.195-10C>T
|
|
|
|
NM_000308.4(CTSA):c.195-12C>G
|
|
|
|
NM_000308.4(CTSA):c.195-13A>T
|
|
|
|
NM_000308.4(CTSA):c.195-15T>C
|
|
|
|
NM_000308.4(CTSA):c.195-15_195-8del
|
|
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
|
NM_000308.4(CTSA):c.1A>G (p.Met1Val)
|
|
|
|
NM_000308.4(CTSA):c.219C>T (p.Pro73=)
|
rs742035
|
|
|
NM_000308.4(CTSA):c.230del (p.Pro77fs)
|
rs587779402
|
|
|
NM_000308.4(CTSA):c.233T>C (p.Val78Ala)
|
rs1055279552
|
|
|
NM_000308.4(CTSA):c.242G>A (p.Trp81Ter)
|
|
|
|
NM_000308.4(CTSA):c.246C>A (p.Leu82=)
|
rs750478435
|
|
|
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser)
|
rs758876717
|
|
|
NM_000308.4(CTSA):c.253_254dup (p.Pro86fs)
|
|
|
|
NM_000308.4(CTSA):c.254G>T (p.Gly85Val)
|
rs1360623902
|
|
|
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu)
|
rs2145814296
|
|
|
NM_000308.4(CTSA):c.258C>T (p.Pro86=)
|
|
|
|
NM_000308.4(CTSA):c.269C>T (p.Ser90Leu)
|
rs137854542
|
|
|
NM_000308.4(CTSA):c.275_278del (p.Asp92fs)
|
|
|
|
NM_000308.4(CTSA):c.282C>T (p.Leu94=)
|
|
|
|
NM_000308.4(CTSA):c.294T>C (p.His98=)
|
|
|
|
NM_000308.4(CTSA):c.306+11A>C
|
|
|
|
NM_000308.4(CTSA):c.306+13C>G
|
|
|
|
NM_000308.4(CTSA):c.306+14A>G
|
|
|
|
NM_000308.4(CTSA):c.306+15G>A
|
|
|
|
NM_000308.4(CTSA):c.306+15G>C
|
|
|
|
NM_000308.4(CTSA):c.306+2T>A
|
|
|
|
NM_000308.4(CTSA):c.306+7G>C
|
|
|
|
NM_000308.4(CTSA):c.307-13C>G
|
|
|
|
NM_000308.4(CTSA):c.307-17A>G
|
|
|
|
NM_000308.4(CTSA):c.307-20G>A
|
|
|
|
NM_000308.4(CTSA):c.307-6C>T
|
|
|
|
NM_000308.4(CTSA):c.307-7T>C
|
|
|
|
NM_000308.4(CTSA):c.309C>T (p.Val103=)
|
|
|
|
NM_000308.4(CTSA):c.31_34del (p.Leu11fs)
|
|
|
|
NM_000308.4(CTSA):c.321T>C (p.Gly107=)
|
|
|
|
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup)
|
rs72555383
|
|
|
NM_000308.4(CTSA):c.350G>A (p.Trp117Ter)
|
|
|
|
NM_000308.4(CTSA):c.357+10del
|
|
|
|
NM_000308.4(CTSA):c.357+13C>G
|
|
|
|
NM_000308.4(CTSA):c.357+19G>A
|
|
|
|
NM_000308.4(CTSA):c.357+3A>G
|
rs1413013327
|
|
|
NM_000308.4(CTSA):c.358-11C>T
|
|
|
|
NM_000308.4(CTSA):c.358-20A>C
|
|
|
|
NM_000308.4(CTSA):c.358-2A>G
|
|
|
|
NM_000308.4(CTSA):c.358-4_358-3del
|
|
|
|
NM_000308.4(CTSA):c.358-5T>C
|
|
|
|
NM_000308.4(CTSA):c.358-5T>G
|
rs375266196
|
|
|
NM_000308.4(CTSA):c.358-8C>A
|
|
|
|
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr)
|
rs1601139705
|
|
|
NM_000308.4(CTSA):c.366T>C (p.Asn122=)
|
|
|
|
NM_000308.4(CTSA):c.376del (p.Leu126fs)
|
|
|
|
NM_000308.4(CTSA):c.378G>C (p.Leu126=)
|
|
|
|
NM_000308.4(CTSA):c.380A>T (p.Glu127Val)
|
rs2145815136
|
|
|
NM_000308.4(CTSA):c.381G>A (p.Glu127=)
|
|
|
|
NM_000308.4(CTSA):c.387A>C (p.Pro129=)
|
|
|
|
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro)
|
rs376642070
|
|
|
NM_000308.4(CTSA):c.411C>T (p.Ser137=)
|
|
|
|
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys)
|
rs2145815279
|
|
|
NM_000308.4(CTSA):c.426T>C (p.Tyr142=)
|
|
|
|
NM_000308.4(CTSA):c.428C>T (p.Ala143Val)
|
|
|
|
NM_000308.4(CTSA):c.42G>T (p.Leu14=)
|
|
|
|
NM_000308.4(CTSA):c.432T>G (p.Thr144=)
|
|
|
|
NM_000308.4(CTSA):c.444+10del
|
|
|
|
NM_000308.4(CTSA):c.444+15T>C
|
|
|
|
NM_000308.4(CTSA):c.444+7C>A
|
|
|
|
NM_000308.4(CTSA):c.445-10C>G
|
|
|
|
NM_000308.4(CTSA):c.445-10C>T
|
|
|
|
NM_000308.4(CTSA):c.445-14T>C
|
|
|
|
NM_000308.4(CTSA):c.445-18_447del
|
rs1987030082
|
|
|
NM_000308.4(CTSA):c.445-1G>C
|
|
|
|
NM_000308.4(CTSA):c.445-4C>T
|
|
|
|
NM_000308.4(CTSA):c.445-7T>C
|
|
|
|
NM_000308.4(CTSA):c.447C>T (p.Val149=)
|
|
|
|
NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)
|
|
|
|
NM_000308.4(CTSA):c.463G>T (p.Glu155Ter)
|
|
|
|
NM_000308.4(CTSA):c.467C>T (p.Ala156Val)
|
|
|
|
NM_000308.4(CTSA):c.471T>A (p.Leu157=)
|
|
|
|
NM_000308.4(CTSA):c.474A>G (p.Gln158=)
|
|
|
|
NM_000308.4(CTSA):c.480C>T (p.Phe160=)
|
|
|
|
NM_000308.4(CTSA):c.484C>T (p.Arg162Cys)
|
|
|
|
NM_000308.4(CTSA):c.489C>T (p.Leu163=)
|
|
|
|
NM_000308.4(CTSA):c.507C>T (p.Asn169=)
|
|
|
|
NM_000308.4(CTSA):c.510C>T (p.Asn170=)
|
|
|
|
NM_000308.4(CTSA):c.516T>G (p.Leu172=)
|
|
|
|
NM_000308.4(CTSA):c.517_518del (p.Phe173fs)
|
rs769812697
|
|
|
NM_000308.4(CTSA):c.518del (p.Phe173fs)
|
|
|
|
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)
|
rs886039898
|
|
|
NM_000308.4(CTSA):c.521T>C (p.Leu174Pro)
|
rs2145815915
|
|
|
NM_000308.4(CTSA):c.522G>T (p.Leu174=)
|
|
|
|
NM_000308.4(CTSA):c.52C>T (p.Leu18=)
|
|
|
|
NM_000308.4(CTSA):c.535T>C (p.Tyr179His)
|
|
|
|
NM_000308.4(CTSA):c.549C>T (p.Tyr183=)
|
|
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
|
NM_000308.4(CTSA):c.54G>T (p.Leu18=)
|
rs181943893
|
|
|
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
|
|
|
|
NM_000308.4(CTSA):c.558C>G (p.Thr186=)
|
|
|
|
NM_000308.4(CTSA):c.558C>T (p.Thr186=)
|
|
|
|
NM_000308.4(CTSA):c.565G>A (p.Val189Met)
|
|
|
|
NM_000308.4(CTSA):c.568C>T (p.Leu190=)
|
rs2145816049
|
|
|
NM_000308.4(CTSA):c.570G>A (p.Leu190=)
|
|
|
|
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
|
rs1987042851
|
|
|
NM_000308.4(CTSA):c.57A>G (p.Leu19=)
|
|
|
|
NM_000308.4(CTSA):c.580G>A (p.Asp194Asn)
|
rs2145816069
|
|
|
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys)
|
rs147908449
|
|
|
NM_000308.4(CTSA):c.594C>T (p.Asn198=)
|
|
|
|
NM_000308.4(CTSA):c.595del (p.Leu199fs)
|
rs786205670
|
|
|
NM_000308.4(CTSA):c.600+13T>C
|
|
|
|
NM_000308.4(CTSA):c.600+14_600+15insGG
|
rs2145816155
|
|
|
NM_000308.4(CTSA):c.600+15C>T
|
rs2145816162
|
|
|
NM_000308.4(CTSA):c.601-2A>C
|
|
|
|
NM_000308.4(CTSA):c.601-4A>C
|
|
|
|
NM_000308.4(CTSA):c.601-4A>G
|
|
|
|
NM_000308.4(CTSA):c.601-5C>G
|
|
|
|
NM_000308.4(CTSA):c.601-5C>T
|
|
|
|
NM_000308.4(CTSA):c.601-8T>C
|
|
|
|
NM_000308.4(CTSA):c.60G>A (p.Val20=)
|
|
|
|
NM_000308.4(CTSA):c.618T>C (p.Asn206=)
|
|
|
|
NM_000308.4(CTSA):c.621A>G (p.Gly207=)
|
|
|
|
NM_000308.4(CTSA):c.625_626del (p.Ser209fs)
|
|
|
|
NM_000308.4(CTSA):c.630C>G (p.Ser210=)
|
|
|
|
NM_000308.4(CTSA):c.632A>T (p.Tyr211Phe)
|
|
|
|
NM_000308.4(CTSA):c.648C>T (p.Asn216=)
|
|
|
|
NM_000308.4(CTSA):c.669C>T (p.Tyr223=)
|
|
|
|
NM_000308.4(CTSA):c.678C>T (p.Gly226=)
|
|
|
|
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)
|
rs1986939703
|
|
|
NM_000308.4(CTSA):c.692+17T>C
|
|
|
|
NM_000308.4(CTSA):c.692+20G>A
|
|
|
|
NM_000308.4(CTSA):c.692+3A>G
|
rs786200859
|
|
|
NM_000308.4(CTSA):c.692+9T>C
|
|
|
|
NM_000308.4(CTSA):c.693-11_693-9del
|
rs560285370
|
|
|
NM_000308.4(CTSA):c.693-14C>G
|
|
|
|
NM_000308.4(CTSA):c.693-14C>T
|
|
|
|
NM_000308.4(CTSA):c.693-18C>T
|
|
|
|
NM_000308.4(CTSA):c.693-20T>C
|
|
|
|
NM_000308.4(CTSA):c.693-7_693-5del
|
|
|
|
NM_000308.4(CTSA):c.69G>T (p.Ala23=)
|
|
|
|
NM_000308.4(CTSA):c.6C>A (p.Ile2=)
|
|
|
|
NM_000308.4(CTSA):c.708C>A (p.Leu236=)
|
|
|
|
NM_000308.4(CTSA):c.708C>G (p.Leu236=)
|
|
|
|
NM_000308.4(CTSA):c.717C>T (p.His239=)
|
|
|
|
NM_000308.4(CTSA):c.726T>C (p.Ser242=)
|
|
|
|
NM_000308.4(CTSA):c.729A>G (p.Gln243=)
|
|
|
|
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg)
|
rs1177744429
|
|
|
NM_000308.4(CTSA):c.741C>T (p.Asn247=)
|
rs1231031573
|
|
|
NM_000308.4(CTSA):c.753C>A (p.Asn251Lys)
|
|
|
|
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg)
|
rs1412365614
|
|
|
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
|
|
|
NM_000308.4(CTSA):c.768C>T (p.Cys256=)
|
|
|
|
NM_000308.4(CTSA):c.772A>G (p.Thr258Ala)
|
|
|
|
NM_000308.4(CTSA):c.777+11G>A
|
rs2145818040
|
|
|
NM_000308.4(CTSA):c.777+12C>T
|
|
|
|
NM_000308.4(CTSA):c.777+9C>T
|
|
|
|
NM_000308.4(CTSA):c.778-17T>C
|
|
|
|
NM_000308.4(CTSA):c.778-18C>T
|
|
|
|
NM_000308.4(CTSA):c.778-19G>A
|
|
|
|
NM_000308.4(CTSA):c.778-8C>G
|
|
|
|
NM_000308.4(CTSA):c.786A>G (p.Glu262=)
|
|
|
|
NM_000308.4(CTSA):c.789G>T (p.Val263=)
|
|
|
|
NM_000308.4(CTSA):c.792C>G (p.Ala264=)
|
|
|
|
NM_000308.4(CTSA):c.798C>T (p.Ile266=)
|
|
|
|
NM_000308.4(CTSA):c.799G>A (p.Val267Met)
|
rs1327727683
|
|
|
NM_000308.4(CTSA):c.804C>G (p.Gly268=)
|
|
|
|
NM_000308.4(CTSA):c.816C>T (p.Leu272=)
|
|
|
|
NM_000308.4(CTSA):c.819C>T (p.Asn273=)
|
|
|
|
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
|
rs1987145050
|
|
|
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs)
|
rs875989777
|
|
|
NM_000308.4(CTSA):c.843T>A (p.Cys281Ter)
|
|
|
|
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
|
|
|
|
NM_000308.4(CTSA):c.847G>A (p.Gly283Arg)
|
|
|
|
NM_000308.4(CTSA):c.848G>C (p.Gly283Ala)
|
|
|
|
NM_000308.4(CTSA):c.855G>A (p.Val285=)
|
|
|
|
NM_000308.4(CTSA):c.869+12T>C
|
|
|
|
NM_000308.4(CTSA):c.869+18C>G
|
|
|
|
NM_000308.4(CTSA):c.869+19C>T
|
|
|
|
NM_000308.4(CTSA):c.870-10C>G
|
|
|
|
NM_000308.4(CTSA):c.870-15C>A
|
|
|
|
NM_000308.4(CTSA):c.870-15del
|
rs3215446
|
|
|
NM_000308.4(CTSA):c.870-19C>T
|
|
|
|
NM_000308.4(CTSA):c.870-6T>C
|
|
|
|
NM_000308.4(CTSA):c.870-7A>G
|
|
|
|
NM_000308.4(CTSA):c.870-8C>A
|
|
|
|
NM_000308.4(CTSA):c.873T>G (p.Tyr291Ter)
|
|
|
|
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
|
rs771968194
|
|
|
NM_000308.4(CTSA):c.882C>T (p.Asp294=)
|
|
|
|
NM_000308.4(CTSA):c.885T>C (p.Thr295=)
|
rs143206710
|
|
|
NM_000308.4(CTSA):c.892G>T (p.Val298Phe)
|
|
|
|
NM_000308.4(CTSA):c.911T>C (p.Ile304Thr)
|
|
|
|
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys)
|
rs2145819152
|
|
|
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)
|
rs961795659
|
|
|
NM_000308.4(CTSA):c.931A>C (p.Lys311Gln)
|
|
|
|
NM_000308.4(CTSA):c.935G>A (p.Arg312Gln)
|
|
|
|
NM_000308.4(CTSA):c.946C>T (p.Gln316Ter)
|
rs200565348
|
|
|
NM_000308.4(CTSA):c.948+12C>T
|
|
|
|
NM_000308.4(CTSA):c.948+13G>A
|
|
|
|
NM_000308.4(CTSA):c.948+13G>T
|
rs199925152
|
|
|
NM_000308.4(CTSA):c.948+13_954delinsAGA
|
|
|
|
NM_000308.4(CTSA):c.948+17G>A
|
|
|
|
NM_000308.4(CTSA):c.948+1G>A
|
|
|
|
NM_000308.4(CTSA):c.948G>A (p.Gln316=)
|
rs2145819241
|
|
|
NM_000308.4(CTSA):c.949-11G>T
|
|
|
|
NM_000308.4(CTSA):c.949-13C>T
|
|
|
|
NM_000308.4(CTSA):c.949-16T>C
|
|
|
|
NM_000308.4(CTSA):c.949-18A>C
|
|
|
|
NM_000308.4(CTSA):c.94C>T (p.Gln32Ter)
|
|
|
|
NM_000308.4(CTSA):c.951A>G (p.Ala317=)
|
|
|
|
NM_000308.4(CTSA):c.954G>A (p.Leu318=)
|
|
|
|
NM_000308.4(CTSA):c.960C>T (p.Arg320=)
|
rs1987169608
|
|
|
NM_000308.4(CTSA):c.963A>G (p.Ser321=)
|
|
|
|
NM_000308.4(CTSA):c.966G>C (p.Gly322=)
|
|
|
|
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
|
|
|
|
NM_000308.4(CTSA):c.975G>A (p.Val325=)
|
|
|
|
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn)
|
rs2145813484
|
|
|
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr)
|
rs746428492
|
|
|
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala)
|
rs746428492
|
|
|
NM_000308.4(CTSA):c.990dup (p.Cys331fs)
|
rs758642867
|
|
|
NM_000308.4(CTSA):c.999C>T (p.Asn333=)
|
|
|
|
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
|
|
|
|
NM_000340.1(SLC2A2):c.-238A>G
|
rs551728717
|
|
|
NM_000340.2(SLC2A2):c.*1059del
|
rs139372968
|
|
|
NM_000340.2(SLC2A2):c.*1164T>C
|
rs886058171
|
|
|
NM_000340.2(SLC2A2):c.*1201T>C
|
rs1219326448
|
|
|
NM_000340.2(SLC2A2):c.*1531A>G
|
rs958370410
|
|
|
NM_000340.2(SLC2A2):c.*254T>G
|
rs910326054
|
|
|
NM_000340.2(SLC2A2):c.*325del
|
rs886058174
|
|
|
NM_000340.2(SLC2A2):c.*607del
|
rs563605045
|
|
|
NM_000340.2(SLC2A2):c.*698T>A
|
rs1715118520
|
|
|
NM_000340.2(SLC2A2):c.*725G>C
|
rs79770697
|
|
|
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=)
|
rs573575421
|
|
|
NM_000340.2(SLC2A2):c.*83A>T
|
rs993283861
|
|
|
NM_000340.2(SLC2A2):c.*8del (p.Ter525=)
|
rs573575421
|
|
|
NM_000340.2(SLC2A2):c.*930_*934del
|
rs140350942
|
|
|
NM_000340.2(SLC2A2):c.*94del
|
rs886058175
|
|
|
NM_000340.2(SLC2A2):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs)
|
rs1553785722
|
|
|
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
|
rs1715390589
|
|
|
NM_000340.2(SLC2A2):c.1068+15T>G
|
|
|
|
NM_000340.2(SLC2A2):c.1068+7C>T
|
|
|
|
NM_000340.2(SLC2A2):c.108+16A>G
|
|
|
|
NM_000340.2(SLC2A2):c.109-2A>G
|
rs1576838294
|
|
|
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
|
rs1715228241
|
|
|
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)
|
rs772999215
|
|
|
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
|
|
|
|
NM_000340.2(SLC2A2):c.114A>G (p.Ile38Met)
|
rs2108257085
|
|
|
NM_000340.2(SLC2A2):c.1158A>T (p.Gly386=)
|
|
|
|
NM_000340.2(SLC2A2):c.1161T>C (p.Leu387=)
|
|
|
|
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro)
|
rs121909747
|
|
|
NM_000340.2(SLC2A2):c.1170+1G>T
|
rs1294679246
|
|
|
NM_000340.2(SLC2A2):c.1171-7del
|
|
|
|
NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)
|
|
|
|
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
|
|
|
|
NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg)
|
rs2108233305
|
|
|
NM_000340.2(SLC2A2):c.1194T>C (p.Tyr398=)
|
|
|
|
NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser)
|
rs1553785033
|
|
|
NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)
|
|
|
|
NM_000340.2(SLC2A2):c.1254C>T (p.Ile418=)
|
|
|
|
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter)
|
rs121909745
|
|
|
NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu)
|
rs28928874
|
|
|
NM_000340.2(SLC2A2):c.1275G>A (p.Glu425=)
|
|
|
|
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs)
|
rs1386374799
|
|
|
NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu)
|
rs2108233104
|
|
|
NM_000340.2(SLC2A2):c.130C>T (p.His44Tyr)
|
|
|
|
NM_000340.2(SLC2A2):c.1329T>C (p.Asn443=)
|
|
|
|
NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)
|
|
|
|
NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)
|
|
|
|
NM_000340.2(SLC2A2):c.1356dup (p.Cys453fs)
|
rs1350704340
|
|
|
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs)
|
rs1553784980
|
|
|
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
|
rs1715182989
|
|
|
NM_000340.2(SLC2A2):c.1362C>T (p.Phe454=)
|
|
|
|
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
|
|
|
|
NM_000340.2(SLC2A2):c.1373_1374+2dup
|
rs2108232881
|
|
|
NM_000340.2(SLC2A2):c.1374+7A>G
|
|
|
|
NM_000340.2(SLC2A2):c.1375-20T>G
|
|
|
|
NM_000340.2(SLC2A2):c.137del (p.Leu46fs)
|
|
|
|
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
|
|
|
|
NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.1432C>T (p.Leu478=)
|
|
|
|
NM_000340.2(SLC2A2):c.1440A>G (p.Thr480=)
|
|
|
|
NM_000340.2(SLC2A2):c.144del (p.Pro49fs)
|
rs2108256953
|
|
|
NM_000340.2(SLC2A2):c.1470G>A (p.Lys490=)
|
|
|
|
NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
|
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
|
|
|
|
NM_000340.2(SLC2A2):c.15+6G>A
|
rs886058177
|
|
|
NM_000340.2(SLC2A2):c.1506G>A (p.Lys502=)
|
|
|
|
NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu)
|
rs2108232309
|
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
|
NM_000340.2(SLC2A2):c.16-12C>T
|
|
|
|
NM_000340.2(SLC2A2):c.16-20C>G
|
|
|
|
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
|
|
|
|
NM_000340.2(SLC2A2):c.20C>A (p.Thr7Asn)
|
|
|
|
NM_000340.2(SLC2A2):c.220A>G (p.Met74Val)
|
|
|
|
NM_000340.2(SLC2A2):c.226C>G (p.Pro76Ala)
|
|
|
|
NM_000340.2(SLC2A2):c.239del (p.Pro80fs)
|
rs769888108
|
|
|
NM_000340.2(SLC2A2):c.267T>A (p.Ala89=)
|
|
|
|
NM_000340.2(SLC2A2):c.2T>G (p.Met1Arg)
|
rs1716716102
|
|
|
NM_000340.2(SLC2A2):c.315A>G (p.Ala105=)
|
|
|
|
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter)
|
rs753980727
|
|
|
NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.372-20del
|
|
|
|
NM_000340.2(SLC2A2):c.372-4T>C
|
rs769607196
|
|
|
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser)
|
rs1576833940
|
|
|
NM_000340.2(SLC2A2):c.409G>C (p.Val137Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.415G>A (p.Ala139Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
|
NM_000340.2(SLC2A2):c.474A>C (p.Arg158Ser)
|
|
|
|
NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)
|
|
|
|
NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)
|
|
|
|
NM_000340.2(SLC2A2):c.492T>C (p.Tyr164=)
|
|
|
|
NM_000340.2(SLC2A2):c.496+2T>A
|
|
|
|
NM_000340.2(SLC2A2):c.496+6T>A
|
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA
|
rs746295534
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACA
|
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACA
|
rs746295534
|
|
|
NM_000340.2(SLC2A2):c.496+7_496+8insCTCACACACACACACACA
|
|
|
|
NM_000340.2(SLC2A2):c.497-2A>G
|
rs1318756243
|
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
|
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
|
|
|
|
NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr)
|
rs200213178
|
|
|
NM_000340.2(SLC2A2):c.576T>C (p.His192=)
|
|
|
|
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)
|
rs121909741
|
|
|
NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys)
|
rs2108262047
|
|
|
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys)
|
rs149460434
|
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
|
NM_000340.2(SLC2A2):c.594G>C (p.Thr198=)
|
|
|
|
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
|
|
|
|
NM_000340.2(SLC2A2):c.609T>C (p.Ser203=)
|
|
|
|
NM_000340.2(SLC2A2):c.612+7del
|
|
|
|
NM_000340.2(SLC2A2):c.613-1G>C
|
rs1553786361
|
|
|
NM_000340.2(SLC2A2):c.613-7T>C
|
|
|
|
NM_000340.2(SLC2A2):c.613-7T>G
|
rs2108244550
|
|
|
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)
|
rs1114167428
|
|
|
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=)
|
rs886058176
|
|
|
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)
|
rs773581866
|
|
|
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs)
|
rs1560035336
|
|
|
NM_000340.2(SLC2A2):c.733T>C (p.Tyr245His)
|
|
|
|
NM_000340.2(SLC2A2):c.739T>C (p.Tyr247His)
|
|
|
|
NM_000340.2(SLC2A2):c.73G>A (p.Gly25Arg)
|
|
|
|
NM_000340.2(SLC2A2):c.748T>C (p.Leu250=)
|
|
|
|
NM_000340.2(SLC2A2):c.753T>C (p.Asp251=)
|
|
|
|
NM_000340.2(SLC2A2):c.775+19T>C
|
|
|
|
NM_000340.2(SLC2A2):c.776-8T>C
|
|
|
|
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
|
|
|
NM_000340.2(SLC2A2):c.80A>T (p.Asp27Val)
|
rs2108262016
|
|
|
NM_000340.2(SLC2A2):c.833A>C (p.Lys278Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.841G>A (p.Glu281Lys)
|
|
|
|
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter)
|
rs121909746
|
|
|
NM_000340.2(SLC2A2):c.872T>A (p.Ile291Lys)
|
|
|
|
NM_000340.2(SLC2A2):c.881T>A (p.Leu294His)
|
|
|
|
NM_000340.2(SLC2A2):c.902G>T (p.Arg301Leu)
|
|
|
|
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
|
|
|
|
NM_000340.2(SLC2A2):c.963+20C>T
|
|
|
|
NM_000340.2(SLC2A2):c.964-15G>A
|
|
|
|
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs)
|
rs1560033414
|
|
|
NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)
|
|
|
|
NM_000340.2(SLC2A2):c.996G>A (p.Thr332=)
|
|
|
|
NM_000343.3(SLC5A1):c.-23G>A
|
rs886057400
|
|
|
NM_000343.4(SLC5A1):c.*1251G>T
|
rs886057411
|
|
|
NM_000343.4(SLC5A1):c.*1346A>G
|
rs886057412
|
|
|
NM_000343.4(SLC5A1):c.*1522T>G
|
rs2094057473
|
|
|
NM_000343.4(SLC5A1):c.*155C>T
|
rs886057405
|
|
|
NM_000343.4(SLC5A1):c.*183G>C
|
rs886057406
|
|
|
NM_000343.4(SLC5A1):c.*1940G>A
|
rs117112619
|
|
|
NM_000343.4(SLC5A1):c.*2352A>T
|
rs2094059162
|
|
|
NM_000343.4(SLC5A1):c.*2411C>G
|
rs2094059315
|
|
|
NM_000343.4(SLC5A1):c.*2612T>C
|
rs2094059794
|
|
|
NM_000343.4(SLC5A1):c.*423dup
|
rs140860103
|
|
|
NM_000343.4(SLC5A1):c.*510G>A
|
rs886057408
|
|
|
NM_000343.4(SLC5A1):c.*715del
|
rs777276040
|
|
|
NM_000343.4(SLC5A1):c.-11dup
|
rs541991193
|
|
|
NM_000343.4(SLC5A1):c.1002C>T (p.Ile334=)
|
|
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
|
NM_000343.4(SLC5A1):c.1008C>T (p.Arg336=)
|
|
|
|
NM_000343.4(SLC5A1):c.1021+15T>G
|
|
|
|
NM_000343.4(SLC5A1):c.1021+1G>A
|
rs2149492476
|
|
|
NM_000343.4(SLC5A1):c.1022-7T>C
|
|
|
|
NM_000343.4(SLC5A1):c.102C>T (p.Ile34=)
|
|
|
|
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser)
|
rs2149492818
|
|
|
NM_000343.4(SLC5A1):c.1035T>C (p.Cys345=)
|
|
|
|
NM_000343.4(SLC5A1):c.1038C>T (p.Val346=)
|
|
|
|
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
|
|
|
|
NM_000343.4(SLC5A1):c.1089C>T (p.Asn363=)
|
|
|
|
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys)
|
rs2149492851
|
|
|
NM_000343.4(SLC5A1):c.1129+23_1129+26del
|
rs2149492876
|
|
|
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG
|
rs2149492872
|
|
|
NM_000343.4(SLC5A1):c.1130-10_1130-8del
|
rs770678836
|
|
|
NM_000343.4(SLC5A1):c.114A>G (p.Val38=)
|
rs2149481673
|
|
|
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
|
rs1359279768
|
|
|
NM_000343.4(SLC5A1):c.1179C>T (p.Ser393=)
|
|
|
|
NM_000343.4(SLC5A1):c.1182G>A (p.Leu394=)
|
|
|
|
NM_000343.4(SLC5A1):c.1185C>T (p.Thr395=)
|
|
|
|
NM_000343.4(SLC5A1):c.1191C>T (p.Ile397=)
|
|
|
|
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val)
|
rs2149494224
|
|
|
NM_000343.4(SLC5A1):c.1203C>T (p.Ala401=)
|
|
|
|
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
|
rs770382788
|
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
|
NM_000343.4(SLC5A1):c.1233C>G (p.Ala411=)
|
|
|
|
NM_000343.4(SLC5A1):c.1236G>A (p.Lys412=)
|
|
|
|
NM_000343.4(SLC5A1):c.123C>T (p.Ala41=)
|
|
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
|
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
|
|
|
|
NM_000343.4(SLC5A1):c.126C>T (p.Val42=)
|
|
|
|
NM_000343.4(SLC5A1):c.1280+7G>T
|
|
|
|
NM_000343.4(SLC5A1):c.1281-8_1281-4dup
|
|
|
|
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
|
|
|
|
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.135+10G>A
|
|
|
|
NM_000343.4(SLC5A1):c.135+14T>G
|
|
|
|
NM_000343.4(SLC5A1):c.135+16T>G
|
|
|
|
NM_000343.4(SLC5A1):c.135+9C>T
|
|
|
|
NM_000343.4(SLC5A1):c.136-17dup
|
rs2093943077
|
|
|
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His)
|
rs2149496672
|
|
|
NM_000343.4(SLC5A1):c.1388T>A (p.Leu463Ter)
|
|
|
|
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg)
|
rs886057402
|
|
|
NM_000343.4(SLC5A1):c.1394_1395insT (p.Pro466fs)
|
rs2149496680
|
|
|
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
|
|
|
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
|
|
|
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
|
|
NM_000343.4(SLC5A1):c.1404G>C (p.Ala468=)
|
|
|
|
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
|
rs2094032479
|
|
|
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
|
|
|
NM_000343.4(SLC5A1):c.1449+14G>A
|
|
|
|
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
|
|
|
NM_000343.4(SLC5A1):c.1450-18C>T
|
|
|
|
NM_000343.4(SLC5A1):c.1450-5del
|
|
|
|
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg)
|
rs886057403
|
|
|
NM_000343.4(SLC5A1):c.1471C>T (p.Leu491=)
|
|
|
|
NM_000343.4(SLC5A1):c.1496G>A (p.Arg499His)
|
|
|
|
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro)
|
rs927157864
|
|
|
NM_000343.4(SLC5A1):c.1506T>C (p.Thr502=)
|
|
|
|
NM_000343.4(SLC5A1):c.1518T>C (p.Tyr506=)
|
|
|
|
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)
|
rs2149483365
|
|
|
NM_000343.4(SLC5A1):c.1542C>T (p.Pro514=)
|
rs2149497542
|
|
|
NM_000343.4(SLC5A1):c.1557G>C (p.Thr519=)
|
|
|
|
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)
|
rs773674977
|
|
|
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met)
|
rs2149497555
|
|
|
NM_000343.4(SLC5A1):c.1581G>A (p.Leu527=)
|
|
|
|
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
|
rs1334755356
|
|
|
NM_000343.4(SLC5A1):c.1605C>A (p.Ala535=)
|
rs1185265550
|
|
|
NM_000343.4(SLC5A1):c.1623C>T (p.Ile541=)
|
|
|
|
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
|
|
|
|
NM_000343.4(SLC5A1):c.162T>C (p.Thr54=)
|
|
|
|
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
|
rs2093943146
|
|
|
NM_000343.4(SLC5A1):c.1656G>A (p.Pro552=)
|
|
|
|
NM_000343.4(SLC5A1):c.1665+19G>C
|
|
|
|
NM_000343.4(SLC5A1):c.1666-10T>C
|
|
|
|
NM_000343.4(SLC5A1):c.1666-13G>A
|
|
|
|
NM_000343.4(SLC5A1):c.1666-20C>G
|
|
|
|
NM_000343.4(SLC5A1):c.1666-2del
|
|
|
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
|
|
|
NM_000343.4(SLC5A1):c.1674T>C (p.Arg558=)
|
|
|
|
NM_000343.4(SLC5A1):c.1683G>A (p.Trp561Ter)
|
|
|
|
NM_000343.4(SLC5A1):c.1689G>A (p.Leu563=)
|
|
|
|
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
|
|
|
NM_000343.4(SLC5A1):c.1692C>T (p.Arg564=)
|
|
|
|
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs)
|
rs1455367784
|
|
|
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn)
|
rs1390196310
|
|
|
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
|
|
|
|
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
|
|
|
|
NM_000343.4(SLC5A1):c.171C>T (p.Gly57=)
|
|
|
|
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu)
|
rs185883847
|
|
|
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
|
rs2094042528
|
|
|
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys)
|
rs1396167742
|
|
|
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
|
|
|
|
NM_000343.4(SLC5A1):c.1771+14C>G
|
|
|
|
NM_000343.4(SLC5A1):c.1771+20A>G
|
|
|
|
NM_000343.4(SLC5A1):c.1771+3G>A
|
|
|
|
NM_000343.4(SLC5A1):c.1772-14A>G
|
|
|
|
NM_000343.4(SLC5A1):c.1772-5C>A
|
rs886057404
|
|
|
NM_000343.4(SLC5A1):c.1772-6G>A
|
rs201685531
|
|
|
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val)
|
rs2094053423
|
|
|
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)
|
rs1277952619
|
|
|
NM_000343.4(SLC5A1):c.1833G>A (p.Gly611=)
|
|
|
|
NM_000343.4(SLC5A1):c.1845C>T (p.His615=)
|
|
|
|
NM_000343.4(SLC5A1):c.1872G>A (p.Glu624=)
|
|
|
|
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
|
|
|
|
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
|
|
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
|
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser)
|
rs200684333
|
|
|
NM_000343.4(SLC5A1):c.1920G>A (p.Leu640=)
|
rs1326329755
|
|
|
NM_000343.4(SLC5A1):c.1941C>T (p.Val647=)
|
|
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.1956G>C (p.Leu652=)
|
|
|
|
NM_000343.4(SLC5A1):c.1962C>T (p.Thr654=)
|
|
|
|
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
|
|
|
|
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg)
|
rs1382025396
|
|
|
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
|
|
|
|
NM_000343.4(SLC5A1):c.207+19G>C
|
|
|
|
NM_000343.4(SLC5A1):c.208-13T>C
|
|
|
|
NM_000343.4(SLC5A1):c.208-16T>C
|
|
|
|
NM_000343.4(SLC5A1):c.208-20A>C
|
|
|
|
NM_000343.4(SLC5A1):c.208-9C>T
|
|
|
|
NM_000343.4(SLC5A1):c.216C>T (p.Ala72=)
|
rs2149487752
|
|
|
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
|
rs762929535
|
|
|
NM_000343.4(SLC5A1):c.226del (p.Ala76fs)
|
rs2149487756
|
|
|
NM_000343.4(SLC5A1):c.231T>C (p.Ser77=)
|
|
|
|
NM_000343.4(SLC5A1):c.246C>T (p.Gly82=)
|
|
|
|
NM_000343.4(SLC5A1):c.264C>T (p.Ala88=)
|
|
|
|
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
|
|
|
|
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)
|
rs2149487772
|
|
|
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
|
|
|
|
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
|
|
|
NM_000343.4(SLC5A1):c.312+17C>A
|
rs2149487784
|
|
|
NM_000343.4(SLC5A1):c.312+18C>A
|
|
|
|
NM_000343.4(SLC5A1):c.312+19A>G
|
|
|
|
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
|
|
|
NM_000343.4(SLC5A1):c.330T>G (p.Val110=)
|
|
|
|
NM_000343.4(SLC5A1):c.336G>A (p.Leu112=)
|
|
|
|
NM_000343.4(SLC5A1):c.33C>T (p.Thr11=)
|
|
|
|
NM_000343.4(SLC5A1):c.357C>T (p.Ile119=)
|
|
|
|
NM_000343.4(SLC5A1):c.369T>C (p.Ala123=)
|
rs1569304938
|
|
|
NM_000343.4(SLC5A1):c.36G>C (p.Ala12=)
|
rs148720069
|
|
|
NM_000343.4(SLC5A1):c.372+15T>G
|
|
|
|
NM_000343.4(SLC5A1):c.372+1_372+2insCTTATAT
|
rs764766115
|
|
|
NM_000343.4(SLC5A1):c.372+7_372+8del
|
rs1374768105
|
|
|
NM_000343.4(SLC5A1):c.372+8T>G
|
rs1443237221
|
|
|
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
|
|
|
|
NM_000343.4(SLC5A1):c.373-7del
|
rs778194598
|
|
|
NM_000343.4(SLC5A1):c.373-8C>T
|
|
|
|
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
|
|
|
|
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)
|
rs2149481647
|
|
|
NM_000343.4(SLC5A1):c.420G>A (p.Arg140=)
|
|
|
|
NM_000343.4(SLC5A1):c.429C>T (p.Val143=)
|
|
|
|
NM_000343.4(SLC5A1):c.447C>G (p.Ser149=)
|
rs771248492
|
|
|
NM_000343.4(SLC5A1):c.474C>A (p.Ile158=)
|
|
|
|
NM_000343.4(SLC5A1):c.477+15C>T
|
|
|
|
NM_000343.4(SLC5A1):c.478-11T>A
|
|
|
|
NM_000343.4(SLC5A1):c.478-13C>T
|
|
|
|
NM_000343.4(SLC5A1):c.478-15C>G
|
|
|
|
NM_000343.4(SLC5A1):c.478-15C>T
|
|
|
|
NM_000343.4(SLC5A1):c.478-16T>C
|
|
|
|
NM_000343.4(SLC5A1):c.478-19G>A
|
|
|
|
NM_000343.4(SLC5A1):c.478-7dup
|
rs33982670
|
|
|
NM_000343.4(SLC5A1):c.492G>T (p.Ser164=)
|
|
|
|
NM_000343.4(SLC5A1):c.519A>G (p.Leu173=)
|
|
|
|
NM_000343.4(SLC5A1):c.531G>A (p.Leu177=)
|
|
|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
|
|
NM_000343.4(SLC5A1):c.54G>A (p.Glu18=)
|
|
|
|
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
|
|
|
|
NM_000343.4(SLC5A1):c.573C>T (p.Tyr191=)
|
|
|
|
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
|
|
|
|
NM_000343.4(SLC5A1):c.583+3G>A
|
|
|
|
NM_000343.4(SLC5A1):c.584-19T>C
|
|
|
|
NM_000343.4(SLC5A1):c.584-4T>A
|
|
|
|
NM_000343.4(SLC5A1):c.584-5C>T
|
|
|
|
NM_000343.4(SLC5A1):c.584-6G>A
|
rs200525887
|
|
|
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
|
|
|
NM_000343.4(SLC5A1):c.594G>A (p.Ala198=)
|
rs184213779
|
|
|
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
|
|
|
|
NM_000343.4(SLC5A1):c.597G>A (p.Ala199=)
|
|
|
|
NM_000343.4(SLC5A1):c.600G>C (p.Val200=)
|
|
|
|
NM_000343.4(SLC5A1):c.652C>T (p.Leu218=)
|
|
|
|
NM_000343.4(SLC5A1):c.665-12G>A
|
|
|
|
NM_000343.4(SLC5A1):c.665-13C>T
|
|
|
|
NM_000343.4(SLC5A1):c.665-2A>G
|
|
|
|
NM_000343.4(SLC5A1):c.672C>T (p.His224=)
|
|
|
|
NM_000343.4(SLC5A1):c.673G>T (p.Glu225Ter)
|
|
|
|
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
|
|
NM_000343.4(SLC5A1):c.690C>T (p.Asp230=)
|
|
|
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
|
|
|
NM_000343.4(SLC5A1):c.708C>T (p.Tyr236=)
|
|
|
|
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
|
|
|
|
NM_000343.4(SLC5A1):c.75T>C (p.Asn25=)
|
|
|
|
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu)
|
rs145740433
|
|
|
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
|
rs888909415
|
|
|
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
|
|
|
|
NM_000343.4(SLC5A1):c.824del (p.Pro275fs)
|
|
|
|
NM_000343.4(SLC5A1):c.82G>A (p.Asp28Asn)
|
rs121912668
|
|
|
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr)
|
rs2149492356
|
|
|
NM_000343.4(SLC5A1):c.862T>C (p.Leu288=)
|
|
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
|
NM_000343.4(SLC5A1):c.885+16G>A
|
|
|
|
NM_000343.4(SLC5A1):c.885+19C>G
|
rs200815762
|
|
|
NM_000343.4(SLC5A1):c.885+19C>T
|
|
|
|
NM_000343.4(SLC5A1):c.885+20G>A
|
|
|
|
NM_000343.4(SLC5A1):c.885+5C>T
|
rs199536443
|
|
|
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys)
|
rs201079555
|
|
|
NM_000343.4(SLC5A1):c.915G>A (p.Lys305=)
|
|
|
|
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
|
|
|
|
NM_000343.4(SLC5A1):c.942C>T (p.Cys314=)
|
|
|
|
NM_000343.4(SLC5A1):c.948G>A (p.Leu316=)
|
|
|
|
NM_000343.4(SLC5A1):c.951T>C (p.Cys317=)
|
rs2149492454
|
|
|
NM_000343.4(SLC5A1):c.963G>A (p.Lys321=)
|
|
|
|
NM_000343.4(SLC5A1):c.987G>T (p.Val329=)
|
|
|
|
NM_000343.4(SLC5A1):c.993A>G (p.Pro331=)
|
|
|
|
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
|
rs775681808
|
|
|
NM_000352.4:c.(?_1818)_(1923_?)del
|
|
|
|
NM_000352.6(ABCC8):c.*93T>A
|
rs886048046
|
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
|
NM_000352.6(ABCC8):c.1012-6C>T
|
rs764178736
|
|
|
NM_000352.6(ABCC8):c.1012-7C>G
|
|
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
|
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)
|
rs763028380
|
|
|
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
|
|
|
|
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
|
|
|
|
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
|
|
|
|
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
|
|
|
|
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
|
|
|
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
|
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg)
|
rs756808492
|
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
|
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe)
|
rs777461294
|
|
|
NM_000352.6(ABCC8):c.1138del (p.Ala380fs)
|
|
|
|
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)
|
rs80356651
|
|
|
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del)
|
rs1554949238
|
|
|
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)
|
rs377104807
|
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
|
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
|
rs2133738359
|
|
|
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
|
|
|
|
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
|
rs1956635063
|
|
|
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln)
|
rs1564955834
|
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
|
NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile)
|
rs1591846104
|
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
|
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=)
|
rs370169777
|
|
|
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup)
|
rs1554949190
|
|
|
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
|
rs1956631543
|
|
|
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
|
|
|
|
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=)
|
rs1591845922
|
|
|
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)
|
rs2133616750
|
|
|
NM_000352.6(ABCC8):c.1332+17G>C
|
rs193922395
|
|
|
NM_000352.6(ABCC8):c.1332+3A>G
|
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
|
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val)
|
rs1554933525
|
|
|
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=)
|
rs1391155490
|
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
|
NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly)
|
rs1956392066
|
|
|
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys)
|
rs1956391008
|
|
|
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)
|
rs1554949196
|
|
|
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)
|
rs1554949196
|
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
|
NM_000352.6(ABCC8):c.1468-2A>C
|
rs1057516946
|
|
|
NM_000352.6(ABCC8):c.1468-52G>A
|
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
|
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
|
NM_000352.6(ABCC8):c.148+4A>T
|
rs763159607
|
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
|
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)
|
rs1591928988
|
|
|
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)
|
rs765090096
|
|
|
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)
|
rs776590557
|
|
|
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
|
|
|
|
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
|
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
|
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del)
|
rs1554933031
|
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
|
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)
|
rs886048055
|
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
|
NM_000352.6(ABCC8):c.1630+5G>A
|
rs1956364777
|
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
|
NM_000352.6(ABCC8):c.1672-473T>G
|
|
|
|
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile)
|
rs1554926621
|
|
|
NM_000352.6(ABCC8):c.1752del (p.His584fs)
|
rs1554926539
|
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
|
NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr)
|
rs1955706366
|
|
|
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
|
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
|
NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)
|
|
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
|
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
|
|
|
|
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
|
|
|
|
NM_000352.6(ABCC8):c.1938G>A (p.Val646=)
|
rs1591797830
|
|
|
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
|
|
|
|
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
|
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
|
NM_000352.6(ABCC8):c.1del (p.Met1fs)
|
rs2133738442
|
|
|
NM_000352.6(ABCC8):c.2040+100G>T
|
rs948658520
|
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
|
NM_000352.6(ABCC8):c.2041-25G>A
|
rs1554924660
|
|
|
NM_000352.6(ABCC8):c.2057T>A (p.Phe686Tyr)
|
rs1159625966
|
|
|
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
|
rs1955658642
|
|
|
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
|
|
|
|
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
|
|
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
|
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
|
|
|
|
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)
|
rs751848086
|
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
|
NM_000352.6(ABCC8):c.2117-10C>A
|
rs886048053
|
|
|
NM_000352.6(ABCC8):c.2117-10C>T
|
rs886048053
|
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
|
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
|
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)
|
rs72559723
|
|
|
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)
|
|
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
|
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
|
rs201724038
|
|
|
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
|
|
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
|
NM_000352.6(ABCC8):c.2235C>A (p.Ser745Arg)
|
rs200708414
|
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
|
NM_000352.6(ABCC8):c.2256-16del
|
rs774508952
|
|
|
NM_000352.6(ABCC8):c.2256-9C>T
|
rs886048052
|
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
|
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs)
|
rs1955018104
|
|
|
NM_000352.6(ABCC8):c.2285A>G (p.Asp762Gly)
|
rs771942551
|
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
|
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
|
|
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
|
NM_000352.6(ABCC8):c.234C>A (p.Thr78=)
|
rs1591928554
|
|
|
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
|
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
|
NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)
|
rs886038286
|
|
|
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)
|
rs1554916621
|
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
|
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)
|
rs561593131
|
|
|
NM_000352.6(ABCC8):c.2539G>C (p.Ala847Pro)
|
rs561593131
|
|
|
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
|
rs1954765607
|
|
|
NM_000352.6(ABCC8):c.2574T>C (p.Ala858=)
|
rs1954764675
|
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
|
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)
|
rs193929360
|
|
|
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs)
|
rs2133728495
|
|
|
NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly)
|
rs1954760501
|
|
|
NM_000352.6(ABCC8):c.267del (p.Ile89fs)
|
rs2133728449
|
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
|
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
|
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
|
NM_000352.6(ABCC8):c.2694+3G>A
|
rs1554914779
|
|
|
NM_000352.6(ABCC8):c.2694+4A>T
|
rs1554914771
|
|
|
NM_000352.6(ABCC8):c.2694+9del
|
rs1564898910
|
|
|
NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter)
|
rs2133460799
|
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
|
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
|
|
|
|
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)
|
rs1591749128
|
|
|
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)
|
rs1954644972
|
|
|
NM_000352.6(ABCC8):c.279C>T (p.Ile93=)
|
rs550990673
|
|
|
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
|
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
|
NM_000352.6(ABCC8):c.2858A>G (p.Gln953Arg)
|
rs761960758
|
|
|
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)
|
rs761160857
|
|
|
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)
|
rs774603418
|
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
|
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val)
|
rs1431503235
|
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
|
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
|
|
|
|
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)
|
rs1954577994
|
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
|
NM_000352.6(ABCC8):c.297C>A (p.Thr99=)
|
rs906180828
|
|
|
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)
|
|
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
|
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)
|
rs149279510
|
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
|
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)
|
rs745860035
|
|
|
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
|
rs1954568421
|
|
|
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)
|
rs1225850029
|
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
|
NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)
|
|
|
|
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=)
|
rs1591744434
|
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
|
NM_000352.6(ABCC8):c.3163-1G>A
|
|
|
|
NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe)
|
rs1954549447
|
|
|
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)
|
rs778240883
|
|
|
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)
|
rs1271445653
|
|
|
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
|
|
|
|
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
|
|
|
|
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
|
|
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
|
NM_000352.6(ABCC8):c.3318A>C (p.Leu1106=)
|
rs750430789
|
|
|
NM_000352.6(ABCC8):c.3330-13G>A
|
|
|
|
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)
|
rs757191246
|
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
|
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
|
|
|
|
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs)
|
rs1954474111
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
|
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
|
|
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
|
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
|
|
|
|
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
|
|
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
|
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)
|
rs1954422814
|
|
|
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
|
|
|
|
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)
|
rs1554910736
|
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
|
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
|
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
|
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)
|
rs778961697
|
|
|
NM_000352.6(ABCC8):c.3516C>A (p.Ile1172=)
|
rs142155036
|
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
|
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
|
rs193922399
|
|
|
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
|
|
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
|
NM_000352.6(ABCC8):c.3558-6C>G
|
rs886048050
|
|
|
NM_000352.6(ABCC8):c.3558-7G>T
|
rs900191703
|
|
|
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=)
|
rs1038735802
|
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
|
NM_000352.6(ABCC8):c.3575dup (p.Asp1192fs)
|
rs2133430623
|
|
|
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)
|
rs1554909277
|
|
|
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)
|
rs1283621955
|
|
|
NM_000352.6(ABCC8):c.35C>T (p.Ser12Leu)
|
rs1283621955
|
|
|
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
|
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
|
NM_000352.6(ABCC8):c.3650+9C>A
|
rs1591730796
|
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
|
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
|
|
|
|
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)
|
rs370636988
|
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
|
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=)
|
rs886048049
|
|
|
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
|
|
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
|
NM_000352.6(ABCC8):c.3753+10A>G
|
rs1591718533
|
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
|
NM_000352.6(ABCC8):c.3753+1G>T
|
|
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
|
NM_000352.6(ABCC8):c.3754-6C>T
|
rs1591717230
|
|
|
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly)
|
rs797045210
|
|
|
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup)
|
rs1554906427
|
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
|
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
|
|
|
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs)
|
rs2133411551
|
|
|
NM_000352.6(ABCC8):c.3788C>A (p.Ala1263Glu)
|
rs772094360
|
|
|
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp)
|
rs1554906389
|
|
|
NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)
|
|
|
|
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
|
|
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
|
|
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
|
|
|
|
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)
|
rs1340859533
|
|
|
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
|
|
|
|
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
|
|
|
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
|
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
|
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)
|
rs80356637
|
|
|
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
|
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
|
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
|
|
|
|
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg)
|
rs1554905805
|
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
|
NM_000352.6(ABCC8):c.4043A>G (p.Asn1348Ser)
|
rs1554905775
|
|
|
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro)
|
rs193929364
|
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
|
NM_000352.6(ABCC8):c.405G>C (p.Leu135=)
|
rs1591916038
|
|
|
NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=)
|
rs1591714060
|
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
|
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met)
|
rs1953962707
|
|
|
NM_000352.6(ABCC8):c.4089C>T (p.His1363=)
|
rs1211875269
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
|
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr)
|
rs1554905695
|
|
|
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp)
|
rs746811190
|
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
|
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)
|
|
|
|
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)
|
rs1554905655
|
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
|
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
|
|
|
|
NM_000352.6(ABCC8):c.4124G>C (p.Gly1375Ala)
|
rs1953901271
|
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
|
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)
|
rs574684578
|
|
|
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)
|
rs886039877
|
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
|
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
|
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
|
NM_000352.6(ABCC8):c.415del (p.Leu139fs)
|
rs1057516591
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
|
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
|
|
|
|
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
|
rs1953897394
|
|
|
NM_000352.6(ABCC8):c.4199-2A>G
|
rs1953885548
|
|
|
NM_000352.6(ABCC8):c.4199-6A>G
|
rs1591710040
|
|
|
NM_000352.6(ABCC8):c.4199-8C>T
|
rs886048048
|
|
|
NM_000352.6(ABCC8):c.4203C>T (p.His1401=)
|
rs1953885229
|
|
|
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
|
|
|
|
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
|
|
|
|
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)
|
rs373478721
|
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
|
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)
|
rs1446306735
|
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
|
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
|
|
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
|
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)
|
rs1564874456
|
|
|
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)
|
rs80356653
|
|
|
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)
|
rs1953879871
|
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
|
NM_000352.6(ABCC8):c.4307+13A>C
|
rs886048047
|
|
|
NM_000352.6(ABCC8):c.4307+13A>G
|
rs886048047
|
|
|
NM_000352.6(ABCC8):c.4307+9del
|
rs1564874257
|
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
|
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
|
|
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
|
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
|
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
|
NM_000352.6(ABCC8):c.4361T>G (p.Leu1454Arg)
|
rs2133398519
|
|
|
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
|
rs1953847411
|
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
|
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
|
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
|
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)
|
rs1591705863
|
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
|
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)
|
rs1554904102
|
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
|
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)
|
|
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
|
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)
|
rs1554904088
|
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
|
NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=)
|
rs1953787387
|
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
|
NM_000352.6(ABCC8):c.4545+4G>C
|
rs760433463
|
|
|
NM_000352.6(ABCC8):c.4546-8C>T
|
rs1273503048
|
|
|
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)
|
rs193922406
|
|
|
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)
|
rs142272833
|
|
|
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)
|
rs796891223
|
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
|
NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly)
|
rs1411638309
|
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
|
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
|
|
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
|
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
|
|
|
|
NM_000352.6(ABCC8):c.4C>T (p.Pro2Ser)
|
rs756552692
|
|
|
NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly)
|
rs1847954058
|
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
|
NM_000352.6(ABCC8):c.512dup (p.Thr172fs)
|
rs1564980510
|
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
|
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)
|
rs919281813
|
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
|
NM_000352.6(ABCC8):c.546G>A (p.Leu182=)
|
rs1591896019
|
|
|
NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)
|
|
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
|
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)
|
rs1057517199
|
|
|
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
|
rs1957204723
|
|
|
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del)
|
rs772409200
|
|
|
NM_000352.6(ABCC8):c.598del (p.Thr200fs)
|
rs1591890137
|
|
|
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
|
|
|
|
NM_000352.6(ABCC8):c.61del (p.Val21fs)
|
rs2133737961
|
|
|
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu)
|
rs80356640
|
|
|
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)
|
rs193929366
|
|
|
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)
|
rs80356642
|
|
|
NM_000352.6(ABCC8):c.639G>A (p.Leu213=)
|
rs1483834388
|
|
|
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)
|
rs1048095
|
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
|
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
|
|
|
|
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg)
|
rs1554942704
|
|
|
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)
|
rs1057517139
|
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
|
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
|
|
|
|
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
|
|
|
|
NM_000352.6(ABCC8):c.725del (p.Lys242fs)
|
rs1957196622
|
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
|
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
|
rs1433841842
|
|
|
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
|
rs763302648
|
|
|
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
|
|
|
|
NM_000352.6(ABCC8):c.765C>G (p.Ile255Met)
|
rs753335564
|
|
|
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
|
|
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
|
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val)
|
rs372930264
|
|
|
NM_000352.6(ABCC8):c.822+9G>A
|
rs1007498516
|
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
|
NM_000352.6(ABCC8):c.823-7T>A
|
rs1554942148
|
|
|
NM_000352.6(ABCC8):c.878A>C (p.His293Pro)
|
rs587783175
|
|
|
NM_000352.6(ABCC8):c.878A>G (p.His293Arg)
|
rs587783175
|
|
|
NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp)
|
rs1957153674
|
|
|
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)
|
rs371802112
|
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
|
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
|
|
|
|
NM_000352.6(ABCC8):c.947G>A (p.Gly316Glu)
|
rs797045214
|
|
|
NM_000352.6(ABCC8):c.951A>G (p.Pro317=)
|
rs1591885314
|
|
|
NM_000352.6(ABCC8):c.954G>C (p.Leu318=)
|
rs771014822
|
|
|
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
|
|
|
|
NM_000352.6(ABCC8):c.97G>A (p.Val33Met)
|
rs768372267
|
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
|
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)
|
|
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
|
NM_000365.6(TPI1):c.-29C>G
|
rs181882616
|
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
|
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
|
|
|
|
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
|
|
|
|
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
|
|
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
|
NM_000365.6(TPI1):c.32dup (p.Asn12fs)
|
rs587777441
|
|
|
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
|
|
|
|
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)
|
rs199881593
|
|
|
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
|
|
|
|
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)
|
rs121964850
|
|
|
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
|
|
|
|
NM_000365.6(TPI1):c.457+7C>G
|
|
|
|
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
|
|
|
|
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)
|
rs121964849
|
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
|
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
|
|
|
|
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
|
rs1555132614
|
|
|
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)
|
rs121964847
|
|
|
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)
|
rs587777440
|
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
|
NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)
|
rs137852333
|
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
|
NM_000402.4(G6PD):c.1192G>A (p.Glu398Lys)
|
rs387906468
|
|
|
NM_000402.4(G6PD):c.1243T>C (p.Cys415Arg)
|
rs137852322
|
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
|
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)
|
rs137852334
|
|
|
NM_000402.4(G6PD):c.1250G>A (p.Arg417His)
|
rs137852321
|
|
|
NM_000402.4(G6PD):c.1268G>A (p.Arg423His)
|
rs137852316
|
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
|
NM_000402.4(G6PD):c.1319G>A (p.Gly440Asp)
|
rs137852336
|
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
|
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro)
|
rs72554665
|
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
|
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)
|
rs137852348
|
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
|
NM_000402.4(G6PD):c.262G>A (p.Asp88Asn)
|
rs137852315
|
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
|
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)
|
rs137852319
|
|
|
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
|
|
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
|
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
|
|
|
|
NM_000404.4(GLB1):c.*194C>A
|
rs886058340
|
|
|
NM_000404.4(GLB1):c.*39C>T
|
rs1696328310
|
|
|
NM_000404.4(GLB1):c.1008A>G (p.Pro336=)
|
rs2125514081
|
|
|
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val)
|
rs376034559
|
|
|
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)
|
rs752177002
|
|
|
NM_000404.4(GLB1):c.1011G>C (p.Leu337=)
|
|
|
|
NM_000404.4(GLB1):c.1017G>A (p.Glu339=)
|
rs2125514070
|
|
|
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_000404.4(GLB1):c.1020T>C (p.Ala340=)
|
rs2125514062
|
|
|
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu)
|
rs2125514060
|
|
|
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
|
|
|
|
NM_000404.4(GLB1):c.1038G>A (p.Lys346=)
|
|
|
|
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn)
|
rs749980306
|
|
|
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys)
|
rs2125514041
|
|
|
NM_000404.4(GLB1):c.1047T>A (p.Ala349=)
|
|
|
|
NM_000404.4(GLB1):c.1056C>T (p.Asn352=)
|
|
|
|
NM_000404.4(GLB1):c.105C>T (p.Asp35=)
|
rs2125553920
|
|
|
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
|
|
|
|
NM_000404.4(GLB1):c.1062C>T (p.Ile354=)
|
rs1698730626
|
|
|
NM_000404.4(GLB1):c.1068+14A>G
|
|
|
|
NM_000404.4(GLB1):c.1068+18G>A
|
|
|
|
NM_000404.4(GLB1):c.1068+18G>C
|
|
|
|
NM_000404.4(GLB1):c.1068+18G>T
|
|
|
|
NM_000404.4(GLB1):c.1068+20T>C
|
rs2125513973
|
|
|
NM_000404.4(GLB1):c.1069-17T>G
|
|
|
|
NM_000404.4(GLB1):c.1069-19T>C
|
|
|
|
NM_000404.4(GLB1):c.1069-20T>C
|
|
|
|
NM_000404.4(GLB1):c.1069-8G>A
|
|
|
|
NM_000404.4(GLB1):c.1069-8G>T
|
rs570577258
|
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
|
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
|
rs2125479142
|
|
|
NM_000404.4(GLB1):c.1077del (p.Val360fs)
|
rs727503952
|
|
|
NM_000404.4(GLB1):c.1083A>G (p.Pro361=)
|
|
|
|
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
|
|
|
|
NM_000404.4(GLB1):c.1086A>G (p.Glu362=)
|
rs2125479069
|
|
|
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp)
|
rs189503132
|
|
|
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
|
|
|
|
NM_000404.4(GLB1):c.1110A>C (p.Pro370=)
|
|
|
|
NM_000404.4(GLB1):c.1113G>A (p.Lys371=)
|
|
|
|
NM_000404.4(GLB1):c.1119A>T (p.Ala373=)
|
|
|
|
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
|
|
|
|
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
|
|
|
|
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
|
|
|
|
NM_000404.4(GLB1):c.1142del (p.Lys381fs)
|
rs2125478934
|
|
|
NM_000404.4(GLB1):c.1143+11A>G
|
|
|
|
NM_000404.4(GLB1):c.1143+14del
|
rs376544604
|
|
|
NM_000404.4(GLB1):c.1143+14dup
|
rs376544604
|
|
|
NM_000404.4(GLB1):c.1143+15del
|
|
|
|
NM_000404.4(GLB1):c.1143+16A>T
|
|
|
|
NM_000404.4(GLB1):c.1143+20_1143+21del
|
|
|
|
NM_000404.4(GLB1):c.1144-12G>A
|
|
|
|
NM_000404.4(GLB1):c.1144-18G>C
|
|
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
|
NM_000404.4(GLB1):c.1144-4T>C
|
|
|
|
NM_000404.4(GLB1):c.1144-8C>G
|
rs1575417836
|
|
|
NM_000404.4(GLB1):c.1146A>G (p.Leu382=)
|
rs893134596
|
|
|
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
|
|
|
|
NM_000404.4(GLB1):c.1147_1148del (p.Lys383fs)
|
|
|
|
NM_000404.4(GLB1):c.114G>A (p.Arg38=)
|
|
|
|
NM_000404.4(GLB1):c.1169A>G (p.Asp390Gly)
|
|
|
|
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs)
|
rs398123348
|
|
|
NM_000404.4(GLB1):c.1176G>C (p.Leu392=)
|
|
|
|
NM_000404.4(GLB1):c.1176G>T (p.Leu392=)
|
|
|
|
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
|
|
|
|
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
|
|
|
|
NM_000404.4(GLB1):c.1191del (p.Ile398fs)
|
rs1559385898
|
|
|
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
|
|
|
|
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
|
|
|
|
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile)
|
rs1402467081
|
|
|
NM_000404.4(GLB1):c.1209C>G (p.Pro403=)
|
rs528690108
|
|
|
NM_000404.4(GLB1):c.1215A>C (p.Thr405=)
|
rs1159059066
|
|
|
NM_000404.4(GLB1):c.1215A>G (p.Thr405=)
|
rs1159059066
|
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
|
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg)
|
rs72555369
|
|
|
NM_000404.4(GLB1):c.1224G>A (p.Gln408=)
|
|
|
|
NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)
|
|
|
|
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
|
|
|
|
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)
|
|
|
|
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
|
|
|
|
NM_000404.4(GLB1):c.1233+10del
|
|
|
|
NM_000404.4(GLB1):c.1233+12A>G
|
|
|
|
NM_000404.4(GLB1):c.1233+13A>C
|
|
|
|
NM_000404.4(GLB1):c.1233+15G>A
|
|
|
|
NM_000404.4(GLB1):c.1233+15del
|
|
|
|
NM_000404.4(GLB1):c.1233+19T>C
|
|
|
|
NM_000404.4(GLB1):c.1233+1G>A
|
rs1553606984
|
|
|
NM_000404.4(GLB1):c.1233+91G>C
|
rs2125474421
|
|
|
NM_000404.4(GLB1):c.1234-13C>A
|
|
|
|
NM_000404.4(GLB1):c.1234-13C>G
|
|
|
|
NM_000404.4(GLB1):c.1234-19T>A
|
|
|
|
NM_000404.4(GLB1):c.1234-1G>T
|
|
|
|
NM_000404.4(GLB1):c.1234-20T>G
|
|
|
|
NM_000404.4(GLB1):c.1234-3C>A
|
|
|
|
NM_000404.4(GLB1):c.1234-8C>T
|
|
|
|
NM_000404.4(GLB1):c.123C>T (p.Phe41=)
|
rs1559411842
|
|
|
NM_000404.4(GLB1):c.1254C>T (p.Tyr418=)
|
|
|
|
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
|
|
|
|
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala)
|
rs200181401
|
|
|
NM_000404.4(GLB1):c.1263A>C (p.Thr421=)
|
|
|
|
NM_000404.4(GLB1):c.1263A>G (p.Thr421=)
|
rs2125470039
|
|
|
NM_000404.4(GLB1):c.126C>A (p.Leu42=)
|
|
|
|
NM_000404.4(GLB1):c.126C>G (p.Leu42=)
|
rs1226161672
|
|
|
NM_000404.4(GLB1):c.126C>T (p.Leu42=)
|
|
|
|
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
|
|
|
|
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
|
|
|
|
NM_000404.4(GLB1):c.1279_1298del (p.Ser427fs)
|
|
|
|
NM_000404.4(GLB1):c.1293T>C (p.Pro431=)
|
rs535594294
|
|
|
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)
|
rs1697335361
|
|
|
NM_000404.4(GLB1):c.12C>T (p.Phe4=)
|
|
|
|
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val)
|
rs34421970
|
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
|
NM_000404.4(GLB1):c.1310del (p.Asn437fs)
|
rs2125469935
|
|
|
NM_000404.4(GLB1):c.1311T>C (p.Asn437=)
|
|
|
|
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)
|
rs72555367
|
|
|
NM_000404.4(GLB1):c.1314A>C (p.Gly438=)
|
|
|
|
NM_000404.4(GLB1):c.1314A>G (p.Gly438=)
|
|
|
|
NM_000404.4(GLB1):c.1317C>T (p.Val439=)
|
|
|
|
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)
|
rs2125469895
|
|
|
NM_000404.4(GLB1):c.1329A>T (p.Ala443=)
|
|
|
|
NM_000404.4(GLB1):c.132T>C (p.Asp44=)
|
rs2125553864
|
|
|
NM_000404.4(GLB1):c.1333G>A (p.Val445Ile)
|
|
|
|
NM_000404.4(GLB1):c.1336dup (p.Ala446fs)
|
rs2125469871
|
|
|
NM_000404.4(GLB1):c.1338T>C (p.Ala446=)
|
|
|
|
NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)
|
|
|
|
NM_000404.4(GLB1):c.1347+13T>G
|
|
|
|
NM_000404.4(GLB1):c.1347+14C>T
|
|
|
|
NM_000404.4(GLB1):c.1347+18A>C
|
|
|
|
NM_000404.4(GLB1):c.1347+19C>T
|
|
|
|
NM_000404.4(GLB1):c.1347+1G>T
|
|
|
|
NM_000404.4(GLB1):c.1347+20T>C
|
|
|
|
NM_000404.4(GLB1):c.1347+7A>G
|
|
|
|
NM_000404.4(GLB1):c.1347+9C>A
|
|
|
|
NM_000404.4(GLB1):c.1348-16del
|
|
|
|
NM_000404.4(GLB1):c.1348-3C>G
|
rs1697255114
|
|
|
NM_000404.4(GLB1):c.1348-5dup
|
|
|
|
NM_000404.4(GLB1):c.1348-7C>G
|
|
|
|
NM_000404.4(GLB1):c.1350C>T (p.Ile450=)
|
|
|
|
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser)
|
rs267599772
|
|
|
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile)
|
rs1398424263
|
|
|
NM_000404.4(GLB1):c.1368G>A (p.Glu456=)
|
rs1163359484
|
|
|
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup)
|
rs2125467100
|
|
|
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
|
|
|
|
NM_000404.4(GLB1):c.1377T>C (p.Asn459=)
|
rs557275388
|
|
|
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
|
|
|
|
NM_000404.4(GLB1):c.1380G>A (p.Val460=)
|
|
|
|
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
|
|
|
|
NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)
|
|
|
|
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)
|
rs2125467060
|
|
|
NM_000404.4(GLB1):c.1389G>T (p.Leu463=)
|
|
|
|
NM_000404.4(GLB1):c.138G>A (p.Gln46=)
|
rs2125553849
|
|
|
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)
|
|
|
|
NM_000404.4(GLB1):c.1416T>A (p.Thr472=)
|
|
|
|
NM_000404.4(GLB1):c.1417del (p.Leu473fs)
|
|
|
|
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
|
|
|
|
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val)
|
rs113534264
|
|
|
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
|
|
|
|
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)
|
|
|
|
NM_000404.4(GLB1):c.1449G>T (p.Val483=)
|
rs2125466973
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
|
NM_000404.4(GLB1):c.1455T>C (p.Tyr485=)
|
|
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
|
NM_000404.4(GLB1):c.1467C>A (p.Ile489=)
|
|
|
|
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)
|
rs1215113920
|
|
|
NM_000404.4(GLB1):c.1479+13A>G
|
|
|
|
NM_000404.4(GLB1):c.1479+17T>C
|
|
|
|
NM_000404.4(GLB1):c.1479+19T>C
|
|
|
|
NM_000404.4(GLB1):c.1479+1G>C
|
rs1022476871
|
|
|
NM_000404.4(GLB1):c.1479+20C>G
|
|
|
|
NM_000404.4(GLB1):c.1479+7C>T
|
|
|
|
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn)
|
rs1172435886
|
|
|
NM_000404.4(GLB1):c.1480-12T>G
|
|
|
|
NM_000404.4(GLB1):c.1480-16T>C
|
|
|
|
NM_000404.4(GLB1):c.1480-9G>A
|
rs2125463527
|
|
|
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
|
|
|
|
NM_000404.4(GLB1):c.1491_1492insTTTAAATTTATTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACNNNNNNNNNNTTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCAGGGTTTGGTTTCTT (p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu)
|
|
|
|
NM_000404.4(GLB1):c.1495C>T (p.Leu499=)
|
rs2125463485
|
|
|
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
|
|
|
|
NM_000404.4(GLB1):c.1500T>G (p.Thr500=)
|
|
|
|
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)
|
rs1553606130
|
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
|
|
|
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
|
|
|
|
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
|
|
|
|
NM_000404.4(GLB1):c.150C>T (p.Tyr50=)
|
rs2125553832
|
|
|
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)
|
rs1553606128
|
|
|
NM_000404.4(GLB1):c.1512T>C (p.Asn504=)
|
rs981899210
|
|
|
NM_000404.4(GLB1):c.1515C>T (p.Ile505=)
|
rs2125463459
|
|
|
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
|
|
|
|
NM_000404.4(GLB1):c.1518C>G (p.Leu506=)
|
rs748176346
|
|
|
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
|
|
|
|
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
|
|
|
|
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys)
|
rs72555363
|
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
|
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
|
rs72555390
|
|
|
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
|
|
|
|
NM_000404.4(GLB1):c.1545C>T (p.Asp515=)
|
rs2125463395
|
|
|
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val)
|
rs2125463380
|
|
|
NM_000404.4(GLB1):c.1557A>G (p.Ala519=)
|
|
|
|
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
|
|
|
|
NM_000404.4(GLB1):c.1566C>T (p.Ser522=)
|
rs1697148439
|
|
|
NM_000404.4(GLB1):c.1570C>T (p.Leu524=)
|
|
|
|
NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs)
|
rs2125463301
|
|
|
NM_000404.4(GLB1):c.1576_1583dup (p.His529fs)
|
rs2125463306
|
|
|
NM_000404.4(GLB1):c.1577del (p.Gly526fs)
|
|
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
|
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)
|
|
|
|
NM_000404.4(GLB1):c.1583del (p.Gly528fs)
|
|
|
|
NM_000404.4(GLB1):c.1584A>G (p.Gly528=)
|
|
|
|
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
|
|
|
|
NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer)
|
rs2125463278
|
|
|
NM_000404.4(GLB1):c.1593_1594inv (p.Ser532Gly)
|
|
|
|
NM_000404.4(GLB1):c.1598_1601dup (p.His534fs)
|
rs1304277420
|
|
|
NM_000404.4(GLB1):c.1599C>A (p.Gly533=)
|
|
|
|
NM_000404.4(GLB1):c.15G>T (p.Leu5=)
|
rs755578948
|
|
|
NM_000404.4(GLB1):c.1602C>T (p.His534=)
|
|
|
|
NM_000404.4(GLB1):c.1603C>G (p.His535Asp)
|
rs886058341
|
|
|
NM_000404.4(GLB1):c.1605T>C (p.His535=)
|
rs1697144237
|
|
|
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter)
|
rs1553606091
|
|
|
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
|
|
|
|
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
|
|
|
|
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter)
|
rs2125463197
|
|
|
NM_000404.4(GLB1):c.1620C>T (p.Ala540=)
|
rs1697142798
|
|
|
NM_000404.4(GLB1):c.1634dup (p.Asn545fs)
|
rs754131566
|
|
|
NM_000404.4(GLB1):c.1635C>T (p.Asn545=)
|
|
|
|
NM_000404.4(GLB1):c.163del (p.Ile55fs)
|
rs1575475703
|
|
|
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
|
|
|
|
NM_000404.4(GLB1):c.1641G>T (p.Thr547=)
|
|
|
|
NM_000404.4(GLB1):c.1644C>T (p.Leu548=)
|
rs761482093
|
|
|
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser)
|
rs2125463133
|
|
|
NM_000404.4(GLB1):c.1647G>C (p.Pro549=)
|
|
|
|
NM_000404.4(GLB1):c.1650C>G (p.Ala550=)
|
rs2125463119
|
|
|
NM_000404.4(GLB1):c.1653T>C (p.Phe551=)
|
|
|
|
NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)
|
|
|
|
NM_000404.4(GLB1):c.1656T>C (p.Tyr552=)
|
rs2125463110
|
|
|
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)
|
rs2125463098
|
|
|
NM_000404.4(GLB1):c.165T>C (p.Ile55=)
|
|
|
|
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
|
|
|
|
NM_000404.4(GLB1):c.1662G>A (p.Gly554=)
|
|
|
|
NM_000404.4(GLB1):c.1662G>T (p.Gly554=)
|
|
|
|
NM_000404.4(GLB1):c.1665C>T (p.Asn555=)
|
rs55974537
|
|
|
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
|
|
|
|
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
|
|
|
|
NM_000404.4(GLB1):c.1680T>C (p.Ser560=)
|
|
|
|
NM_000404.4(GLB1):c.1685dup (p.Asp564fs)
|
rs1697138071
|
|
|
NM_000404.4(GLB1):c.1689A>G (p.Pro563=)
|
|
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
|
NM_000404.4(GLB1):c.1692C>T (p.Asp564=)
|
|
|
|
NM_000404.4(GLB1):c.1697C>A (p.Pro566His)
|
rs1575410340
|
|
|
NM_000404.4(GLB1):c.1698C>T (p.Pro566=)
|
rs1051472577
|
|
|
NM_000404.4(GLB1):c.1701G>A (p.Gln567=)
|
rs2125463030
|
|
|
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)
|
|
|
|
NM_000404.4(GLB1):c.1704C>T (p.Asp568=)
|
rs2125463027
|
|
|
NM_000404.4(GLB1):c.1707C>T (p.Thr569=)
|
|
|
|
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)
|
rs1803200
|
|
|
NM_000404.4(GLB1):c.1716G>A (p.Gln572=)
|
|
|
|
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)
|
rs398123350
|
|
|
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
|
|
|
|
NM_000404.4(GLB1):c.1725A>G (p.Gly575=)
|
|
|
|
NM_000404.4(GLB1):c.1725A>T (p.Gly575=)
|
|
|
|
NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)
|
|
|
|
NM_000404.4(GLB1):c.1734+13A>G
|
|
|
|
NM_000404.4(GLB1):c.1734+13A>T
|
|
|
|
NM_000404.4(GLB1):c.1734+14T>C
|
|
|
|
NM_000404.4(GLB1):c.1734+4C>T
|
|
|
|
NM_000404.4(GLB1):c.1735-10C>T
|
rs766907320
|
|
|
NM_000404.4(GLB1):c.1735-12C>G
|
|
|
|
NM_000404.4(GLB1):c.1735-15TC[4]
|
rs745361874
|
|
|
NM_000404.4(GLB1):c.1735-15TC[5]
|
rs745361874
|
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
|
NM_000404.4(GLB1):c.1735-16G>C
|
rs1696353148
|
|
|
NM_000404.4(GLB1):c.1735-16_1735-9dup
|
rs1696352317
|
|
|
NM_000404.4(GLB1):c.1735-4C>G
|
rs1696352042
|
|
|
NM_000404.4(GLB1):c.1735-8C>G
|
|
|
|
NM_000404.4(GLB1):c.1735-8C>T
|
rs772741040
|
|
|
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg)
|
rs2125442981
|
|
|
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe)
|
rs1302203983
|
|
|
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
|
|
|
|
NM_000404.4(GLB1):c.174C>G (p.Ser58=)
|
|
|
|
NM_000404.4(GLB1):c.1752T>C (p.Asn584=)
|
rs2125442971
|
|
|
NM_000404.4(GLB1):c.1761C>T (p.Asn587=)
|
|
|
|
NM_000404.4(GLB1):c.1764T>C (p.Leu588=)
|
rs2125442941
|
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
|
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
|
|
|
|
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu)
|
rs72555392
|
|
|
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
|
|
|
|
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)
|
rs72555371
|
|
|
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)
|
rs199694629
|
|
|
NM_000404.4(GLB1):c.1785G>A (p.Arg595=)
|
rs2125442900
|
|
|
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
|
rs1696348575
|
|
|
NM_000404.4(GLB1):c.1794G>A (p.Gln598=)
|
rs751382165
|
|
|
NM_000404.4(GLB1):c.1801T>C (p.Leu601=)
|
|
|
|
NM_000404.4(GLB1):c.1803G>A (p.Leu601=)
|
rs2125442880
|
|
|
NM_000404.4(GLB1):c.1812C>G (p.Pro604=)
|
rs765307992
|
|
|
NM_000404.4(GLB1):c.1812C>T (p.Pro604=)
|
|
|
|
NM_000404.4(GLB1):c.1821C>A (p.Ile607=)
|
rs959353985
|
|
|
NM_000404.4(GLB1):c.1833G>C (p.Ser611=)
|
rs201755284
|
|
|
NM_000404.4(GLB1):c.1842C>T (p.Asn614=)
|
|
|
|
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
|
|
|
|
NM_000404.4(GLB1):c.1854G>A (p.Val618=)
|
|
|
|
NM_000404.4(GLB1):c.1854G>C (p.Val618=)
|
|
|
|
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
|
|
|
|
NM_000404.4(GLB1):c.1855C>T (p.Leu619=)
|
|
|
|
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
|
|
|
|
NM_000404.4(GLB1):c.1899A>G (p.Leu633=)
|
|
|
|
NM_000404.4(GLB1):c.1899A>T (p.Leu633=)
|
|
|
|
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
|
|
|
|
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
|
|
|
|
NM_000404.4(GLB1):c.1905T>C (p.Ala635=)
|
|
|
|
NM_000404.4(GLB1):c.1911G>T (p.Thr637=)
|
|
|
|
NM_000404.4(GLB1):c.1917G>C (p.Val639=)
|
|
|
|
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
|
rs759483184
|
|
|
NM_000404.4(GLB1):c.192C>T (p.Tyr64=)
|
rs2125553741
|
|
|
NM_000404.4(GLB1):c.1935C>A (p.Gly645=)
|
rs1238912483
|
|
|
NM_000404.4(GLB1):c.1947C>T (p.Thr649=)
|
|
|
|
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
|
|
|
|
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
|
|
|
|
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)
|
rs1553604682
|
|
|
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
|
|
|
|
NM_000404.4(GLB1):c.1980A>G (p.Arg660=)
|
rs2125442653
|
|
|
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
|
|
|
|
NM_000404.4(GLB1):c.1989C>T (p.Pro663=)
|
rs1297904248
|
|
|
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
|
|
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
|
NM_000404.4(GLB1):c.1992A>C (p.Pro664=)
|
|
|
|
NM_000404.4(GLB1):c.1995C>G (p.Pro665=)
|
rs1300459240
|
|
|
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu)
|
rs754538192
|
|
|
NM_000404.4(GLB1):c.2006del (p.Asn669fs)
|
rs759633494
|
|
|
NM_000404.4(GLB1):c.2006dup (p.Asn669fs)
|
rs759633494
|
|
|
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)
|
rs1553604656
|
|
|
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu)
|
rs2125442597
|
|
|
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
|
|
|
|
NM_000404.4(GLB1):c.2011del (p.Asp671fs)
|
rs1553604655
|
|
|
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
|
|
|
|
NM_000404.4(GLB1):c.2016A>T (p.Ser672=)
|
|
|
|
NM_000404.4(GLB1):c.2022G>A (p.Leu674=)
|
|
|
|
NM_000404.4(GLB1):c.2028T>C (p.His676=)
|
rs753028572
|
|
|
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly)
|
rs72555370
|
|
|
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)
|
rs1553604645
|
|
|
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)
|
rs1553604644
|
|
|
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu)
|
rs572237881
|
|
|
NM_000404.4(GLB1):c.204G>T (p.Arg68=)
|
rs1309516618
|
|
|
NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)
|
|
|
|
NM_000404.4(GLB1):c.210G>A (p.Leu70=)
|
|
|
|
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
|
rs776889510
|
|
|
NM_000404.4(GLB1):c.228G>A (p.Gly76=)
|
|
|
|
NM_000404.4(GLB1):c.228G>C (p.Gly76=)
|
rs1279874417
|
|
|
NM_000404.4(GLB1):c.229C>T (p.Leu77=)
|
rs2125553699
|
|
|
NM_000404.4(GLB1):c.245+10A>T
|
|
|
|
NM_000404.4(GLB1):c.245+13G>A
|
|
|
|
NM_000404.4(GLB1):c.245+16T>C
|
|
|
|
NM_000404.4(GLB1):c.245+19G>A
|
|
|
|
NM_000404.4(GLB1):c.245+19G>T
|
|
|
|
NM_000404.4(GLB1):c.245+1G>C
|
rs778423653
|
|
|
NM_000404.4(GLB1):c.245+3A>G
|
|
|
|
NM_000404.4(GLB1):c.245+6T>C
|
|
|
|
NM_000404.4(GLB1):c.246-10G>A
|
|
|
|
NM_000404.4(GLB1):c.246-10G>T
|
|
|
|
NM_000404.4(GLB1):c.246-11T>G
|
|
|
|
NM_000404.4(GLB1):c.246-13T>C
|
|
|
|
NM_000404.4(GLB1):c.246-16G>C
|
|
|
|
NM_000404.4(GLB1):c.246-16GT[2]
|
|
|
|
NM_000404.4(GLB1):c.246-18C>T
|
|
|
|
NM_000404.4(GLB1):c.246-20G>A
|
|
|
|
NM_000404.4(GLB1):c.246-20G>C
|
|
|
|
NM_000404.4(GLB1):c.246-2A>G
|
rs2125548861
|
|
|
NM_000404.4(GLB1):c.247T>C (p.Tyr83His)
|
rs72555364
|
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
|
NM_000404.4(GLB1):c.253C>T (p.Pro85Ser)
|
|
|
|
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)
|
rs2125548844
|
|
|
NM_000404.4(GLB1):c.261C>T (p.Asn87=)
|
|
|
|
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
|
|
|
|
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
|
|
|
|
NM_000404.4(GLB1):c.270G>A (p.Glu90=)
|
rs749743340
|
|
|
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
|
|
|
|
NM_000404.4(GLB1):c.279A>G (p.Pro93=)
|
|
|
|
NM_000404.4(GLB1):c.27C>G (p.Leu9=)
|
|
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
|
NM_000404.4(GLB1):c.302del (p.Asp101fs)
|
rs1553612213
|
|
|
NM_000404.4(GLB1):c.304C>G (p.His102Asp)
|
|
|
|
NM_000404.4(GLB1):c.315A>G (p.Glu105=)
|
rs994997539
|
|
|
NM_000404.4(GLB1):c.318T>C (p.Tyr106=)
|
|
|
|
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu)
|
rs397515616
|
|
|
NM_000404.4(GLB1):c.31C>T (p.Leu11=)
|
rs77988381
|
|
|
NM_000404.4(GLB1):c.321T>C (p.Phe107=)
|
|
|
|
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
|
|
|
|
NM_000404.4(GLB1):c.327G>C (p.Arg109=)
|
|
|
|
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
|
|
|
|
NM_000404.4(GLB1):c.33G>C (p.Leu11=)
|
|
|
|
NM_000404.4(GLB1):c.342G>A (p.Leu114=)
|
rs2125548706
|
|
|
NM_000404.4(GLB1):c.344del (p.Gly115fs)
|
|
|
|
NM_000404.4(GLB1):c.349C>T (p.Leu117=)
|
|
|
|
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
|
|
|
|
NM_000404.4(GLB1):c.360G>A (p.Leu120=)
|
rs1699791877
|
|
|
NM_000404.4(GLB1):c.363G>A (p.Arg121=)
|
|
|
|
NM_000404.4(GLB1):c.366C>G (p.Pro122=)
|
rs769972414
|
|
|
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
|
rs767916019
|
|
|
NM_000404.4(GLB1):c.376A>G (p.Ile126Val)
|
rs886058343
|
|
|
NM_000404.4(GLB1):c.378C>T (p.Ile126=)
|
|
|
|
NM_000404.4(GLB1):c.37C>T (p.Leu13=)
|
|
|
|
NM_000404.4(GLB1):c.384A>G (p.Ala128=)
|
|
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
|
NM_000404.4(GLB1):c.396+11C>G
|
|
|
|
NM_000404.4(GLB1):c.396+14G>T
|
|
|
|
NM_000404.4(GLB1):c.396+15A>G
|
|
|
|
NM_000404.4(GLB1):c.396+20G>A
|
|
|
|
NM_000404.4(GLB1):c.396+2T>C
|
rs1057517738
|
|
|
NM_000404.4(GLB1):c.396+7G>T
|
|
|
|
NM_000404.4(GLB1):c.396+9G>A
|
|
|
|
NM_000404.4(GLB1):c.397-11C>T
|
|
|
|
NM_000404.4(GLB1):c.397-17T>C
|
|
|
|
NM_000404.4(GLB1):c.397-19C>T
|
|
|
|
NM_000404.4(GLB1):c.397-8T>C
|
|
|
|
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)
|
rs2125547910
|
|
|
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
|
|
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
|
NM_000404.4(GLB1):c.411T>C (p.Ala137=)
|
rs2125547891
|
|
|
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)
|
rs776213501
|
|
|
NM_000404.4(GLB1):c.425_426del (p.Lys142fs)
|
rs1553612150
|
|
|
NM_000404.4(GLB1):c.425_428del (p.Lys142fs)
|
rs1699765928
|
|
|
NM_000404.4(GLB1):c.426dup (p.Glu143fs)
|
|
|
|
NM_000404.4(GLB1):c.429G>A (p.Glu143=)
|
|
|
|
NM_000404.4(GLB1):c.42T>C (p.Val14=)
|
rs2125591563
|
|
|
NM_000404.4(GLB1):c.433_437del (p.Ile145fs)
|
rs1553612145
|
|
|
NM_000404.4(GLB1):c.435T>C (p.Ile145=)
|
|
|
|
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)
|
rs751033858
|
|
|
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe)
|
rs1553612143
|
|
|
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)
|
rs192732174
|
|
|
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)
|
rs192732174
|
|
|
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
|
|
|
|
NM_000404.4(GLB1):c.447C>T (p.Ser149=)
|
|
|
|
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
|
|
|
|
NM_000404.4(GLB1):c.457+11dup
|
|
|
|
NM_000404.4(GLB1):c.457+12C>A
|
|
|
|
NM_000404.4(GLB1):c.457+14G>A
|
|
|
|
NM_000404.4(GLB1):c.457+15A>G
|
|
|
|
NM_000404.4(GLB1):c.457+19C>T
|
|
|
|
NM_000404.4(GLB1):c.457+20T>C
|
|
|
|
NM_000404.4(GLB1):c.457+2T>C
|
rs398123354
|
|
|
NM_000404.4(GLB1):c.457+3A>G
|
|
|
|
NM_000404.4(GLB1):c.458-13T>C
|
|
|
|
NM_000404.4(GLB1):c.458-13del
|
|
|
|
NM_000404.4(GLB1):c.458-14T>A
|
|
|
|
NM_000404.4(GLB1):c.458-5T>C
|
|
|
|
NM_000404.4(GLB1):c.45G>C (p.Leu15=)
|
|
|
|
NM_000404.4(GLB1):c.462C>T (p.Tyr154=)
|
|
|
|
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
|
|
|
|
NM_000404.4(GLB1):c.473del (p.Val158fs)
|
rs2125543662
|
|
|
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)
|
|
|
|
NM_000404.4(GLB1):c.485del (p.Leu162fs)
|
|
|
|
NM_000404.4(GLB1):c.486G>A (p.Leu162=)
|
rs2125543638
|
|
|
NM_000404.4(GLB1):c.492C>G (p.Val164=)
|
|
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
|
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)
|
rs772539129
|
|
|
NM_000404.4(GLB1):c.501C>T (p.Pro167=)
|
rs1553611799
|
|
|
NM_000404.4(GLB1):c.504G>A (p.Lys168=)
|
|
|
|
NM_000404.4(GLB1):c.510G>A (p.Lys170=)
|
|
|
|
NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)
|
|
|
|
NM_000404.4(GLB1):c.516C>T (p.Leu172=)
|
|
|
|
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
|
|
|
|
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)
|
rs397515617
|
|
|
NM_000404.4(GLB1):c.519C>G (p.Leu173=)
|
rs2125543586
|
|
|
NM_000404.4(GLB1):c.51dup (p.Leu18fs)
|
rs398123356
|
|
|
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
|
|
|
|
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser)
|
rs2125543580
|
|
|
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter)
|
rs1553611789
|
|
|
NM_000404.4(GLB1):c.531_534del (p.Gly178fs)
|
rs1559408259
|
|
|
NM_000404.4(GLB1):c.546A>G (p.Thr182=)
|
rs1161551535
|
|
|
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)
|
|
|
|
NM_000404.4(GLB1):c.552+13T>A
|
|
|
|
NM_000404.4(GLB1):c.552+19A>G
|
|
|
|
NM_000404.4(GLB1):c.552+1G>A
|
|
|
|
NM_000404.4(GLB1):c.552+2T>C
|
rs1553611778
|
|
|
NM_000404.4(GLB1):c.552+7C>G
|
|
|
|
NM_000404.4(GLB1):c.552+8T>C
|
rs1373621081
|
|
|
NM_000404.4(GLB1):c.553-1G>C
|
rs1575459735
|
|
|
NM_000404.4(GLB1):c.553-20T>C
|
|
|
|
NM_000404.4(GLB1):c.553-2A>T
|
rs2125533195
|
|
|
NM_000404.4(GLB1):c.558A>G (p.Glu186=)
|
|
|
|
NM_000404.4(GLB1):c.560dup (p.Asn187fs)
|
|
|
|
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
|
|
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
|
rs1553611055
|
|
|
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
|
|
|
|
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
|
|
|
|
NM_000404.4(GLB1):c.576C>T (p.Tyr192=)
|
|
|
|
NM_000404.4(GLB1):c.579T>C (p.Phe193=)
|
|
|
|
NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
|
|
|
|
NM_000404.4(GLB1):c.586G>C (p.Asp196His)
|
rs2125533137
|
|
|
NM_000404.4(GLB1):c.591del (p.Phe197fs)
|
|
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
|
NM_000404.4(GLB1):c.592G>C (p.Asp198His)
|
|
|
|
NM_000404.4(GLB1):c.597C>T (p.Tyr199=)
|
rs1404645663
|
|
|
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
|
|
|
|
NM_000404.4(GLB1):c.606C>T (p.Phe202=)
|
|
|
|
NM_000404.4(GLB1):c.617G>A (p.Arg206His)
|
|
|
|
NM_000404.4(GLB1):c.621T>C (p.Phe207=)
|
|
|
|
NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
|
|
|
|
NM_000404.4(GLB1):c.624C>T (p.Arg208=)
|
rs2125533076
|
|
|
NM_000404.4(GLB1):c.625C>T (p.His209Tyr)
|
rs1699296800
|
|
|
NM_000404.4(GLB1):c.626del (p.His209fs)
|
rs1553611044
|
|
|
NM_000404.4(GLB1):c.627C>T (p.His209=)
|
|
|
|
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
|
|
|
|
NM_000404.4(GLB1):c.631C>T (p.Leu211=)
|
|
|
|
NM_000404.4(GLB1):c.633G>A (p.Leu211=)
|
|
|
|
NM_000404.4(GLB1):c.639T>C (p.Asp213=)
|
|
|
|
NM_000404.4(GLB1):c.63G>A (p.Thr21=)
|
rs2125591533
|
|
|
NM_000404.4(GLB1):c.645_648del (p.Val216fs)
|
rs1553611040
|
|
|
NM_000404.4(GLB1):c.65_75+1del
|
rs1382394474
|
|
|
NM_000404.4(GLB1):c.666A>G (p.Gly222=)
|
|
|
|
NM_000404.4(GLB1):c.670C>G (p.His224Asp)
|
|
|
|
NM_000404.4(GLB1):c.677del (p.Thr226fs)
|
|
|
|
NM_000404.4(GLB1):c.678A>G (p.Thr226=)
|
rs543022319
|
|
|
NM_000404.4(GLB1):c.678A>T (p.Thr226=)
|
|
|
|
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
|
|
|
|
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
|
|
|
|
NM_000404.4(GLB1):c.693G>A (p.Gly231=)
|
|
|
|
NM_000404.4(GLB1):c.693G>C (p.Gly231=)
|
rs754493105
|
|
|
NM_000404.4(GLB1):c.694dup (p.Ala232fs)
|
rs1553611025
|
|
|
NM_000404.4(GLB1):c.696C>T (p.Ala232=)
|
|
|
|
NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
|
|
|
|
NM_000404.4(GLB1):c.699G>T (p.Leu233=)
|
|
|
|
NM_000404.4(GLB1):c.69C>A (p.Gly23=)
|
rs780964758
|
|
|
NM_000404.4(GLB1):c.69C>G (p.Gly23=)
|
rs780964758
|
|
|
NM_000404.4(GLB1):c.69_75+1del
|
|
|
|
NM_000404.4(GLB1):c.6G>A (p.Pro2=)
|
|
|
|
NM_000404.4(GLB1):c.708C>T (p.Leu236=)
|
rs369299644
|
|
|
NM_000404.4(GLB1):c.70T>C (p.Leu24=)
|
|
|
|
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
|
|
|
|
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
|
rs757982518
|
|
|
NM_000404.4(GLB1):c.712A>G (p.Thr238Ala)
|
rs750237687
|
|
|
NM_000404.4(GLB1):c.717G>T (p.Thr239=)
|
rs761692955
|
|
|
NM_000404.4(GLB1):c.729A>G (p.Gly243=)
|
|
|
|
NM_000404.4(GLB1):c.733+10T>C
|
|
|
|
NM_000404.4(GLB1):c.733+11G>A
|
|
|
|
NM_000404.4(GLB1):c.733+13A>T
|
|
|
|
NM_000404.4(GLB1):c.733+1G>A
|
rs1041204916
|
|
|
NM_000404.4(GLB1):c.733+20G>A
|
|
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
|
NM_000404.4(GLB1):c.733+2_733+4del
|
rs1553611016
|
|
|
NM_000404.4(GLB1):c.733+78A>G
|
rs77452319
|
|
|
NM_000404.4(GLB1):c.733+7G>A
|
rs2125532858
|
|
|
NM_000404.4(GLB1):c.734-10C>T
|
|
|
|
NM_000404.4(GLB1):c.734-11A>G
|
|
|
|
NM_000404.4(GLB1):c.734-11dup
|
|
|
|
NM_000404.4(GLB1):c.734-14C>G
|
|
|
|
NM_000404.4(GLB1):c.734-14C>T
|
|
|
|
NM_000404.4(GLB1):c.734-16C>T
|
|
|
|
NM_000404.4(GLB1):c.734-17C>T
|
|
|
|
NM_000404.4(GLB1):c.734-2A>G
|
rs1699088102
|
|
|
NM_000404.4(GLB1):c.734-99G>T
|
rs72856120
|
|
|
NM_000404.4(GLB1):c.747A>T (p.Thr249=)
|
|
|
|
NM_000404.4(GLB1):c.75+2T>G
|
rs2125591484
|
|
|
NM_000404.4(GLB1):c.750T>C (p.Asp250=)
|
|
|
|
NM_000404.4(GLB1):c.751G>A (p.Ala251Thr)
|
rs1423200446
|
|
|
NM_000404.4(GLB1):c.76-12C>A
|
|
|
|
NM_000404.4(GLB1):c.76-16del
|
|
|
|
NM_000404.4(GLB1):c.76-17C>T
|
|
|
|
NM_000404.4(GLB1):c.76-1G>T
|
|
|
|
NM_000404.4(GLB1):c.76-4G>A
|
rs2125553992
|
|
|
NM_000404.4(GLB1):c.76-5T>C
|
|
|
|
NM_000404.4(GLB1):c.76-9G>A
|
rs1340962080
|
|
|
NM_000404.4(GLB1):c.76-9G>T
|
|
|
|
NM_000404.4(GLB1):c.76-9_76-8delinsAA
|
rs2125553998
|
|
|
NM_000404.4(GLB1):c.765G>C (p.Gln255His)
|
rs1553610553
|
|
|
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
|
|
|
|
NM_000404.4(GLB1):c.768G>A (p.Arg256=)
|
|
|
|
NM_000404.4(GLB1):c.769_792+13del
|
rs1282958432
|
|
|
NM_000404.4(GLB1):c.771G>A (p.Lys257=)
|
|
|
|
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)
|
|
|
|
NM_000404.4(GLB1):c.779C>A (p.Pro260His)
|
rs2125525594
|
|
|
NM_000404.4(GLB1):c.780C>T (p.Pro260=)
|
|
|
|
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)
|
|
|
|
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)
|
|
|
|
NM_000404.4(GLB1):c.786A>C (p.Gly262=)
|
|
|
|
NM_000404.4(GLB1):c.789C>G (p.Pro263=)
|
rs1306950895
|
|
|
NM_000404.4(GLB1):c.789C>T (p.Pro263=)
|
rs1306950895
|
|
|
NM_000404.4(GLB1):c.78T>C (p.Asn26=)
|
rs2125553988
|
|
|
NM_000404.4(GLB1):c.792+10G>A
|
rs79518579
|
|
|
NM_000404.4(GLB1):c.792+10G>C
|
rs79518579
|
|
|
NM_000404.4(GLB1):c.792+10G>T
|
rs79518579
|
|
|
NM_000404.4(GLB1):c.792+16G>C
|
|
|
|
NM_000404.4(GLB1):c.792+18G>A
|
rs202068250
|
|
|
NM_000404.4(GLB1):c.792+9C>A
|
rs755373106
|
|
|
NM_000404.4(GLB1):c.792+9C>T
|
|
|
|
NM_000404.4(GLB1):c.793-13T>G
|
|
|
|
NM_000404.4(GLB1):c.793-14dup
|
rs943395100
|
|
|
NM_000404.4(GLB1):c.793-18G>A
|
|
|
|
NM_000404.4(GLB1):c.793-20A>G
|
rs1231370554
|
|
|
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)
|
|
|
|
NM_000404.4(GLB1):c.804A>G (p.Glu268=)
|
|
|
|
NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
|
|
|
|
NM_000404.4(GLB1):c.813T>C (p.Thr271=)
|
rs2125523180
|
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
|
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)
|
rs1378338444
|
|
|
NM_000404.4(GLB1):c.81C>T (p.Ala27=)
|
|
|
|
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)
|
rs1699012933
|
|
|
NM_000404.4(GLB1):c.827A>C (p.His276Pro)
|
rs1559401406
|
|
|
NM_000404.4(GLB1):c.833del (p.Gly278fs)
|
|
|
|
NM_000404.4(GLB1):c.837A>C (p.Gln279His)
|
|
|
|
NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
|
|
|
|
NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
|
|
|
|
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
|
|
|
|
NM_000404.4(GLB1):c.843C>T (p.His281=)
|
rs1486962222
|
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
|
NM_000404.4(GLB1):c.84C>T (p.Thr28=)
|
rs2125553969
|
|
|
NM_000404.4(GLB1):c.873C>T (p.Ser291=)
|
rs755951134
|
|
|
NM_000404.4(GLB1):c.876C>T (p.Ser292=)
|
rs1699010204
|
|
|
NM_000404.4(GLB1):c.879C>G (p.Leu293=)
|
|
|
|
NM_000404.4(GLB1):c.879C>T (p.Leu293=)
|
rs1445139978
|
|
|
NM_000404.4(GLB1):c.87G>T (p.Gln29His)
|
|
|
|
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)
|
rs767704163
|
|
|
NM_000404.4(GLB1):c.882T>C (p.Tyr294=)
|
|
|
|
NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
|
|
|
|
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs)
|
rs1699008262
|
|
|
NM_000404.4(GLB1):c.903G>A (p.Ala301=)
|
rs1182083485
|
|
|
NM_000404.4(GLB1):c.903G>T (p.Ala301=)
|
rs1182083485
|
|
|
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
|
|
|
|
NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
|
|
|
|
NM_000404.4(GLB1):c.905G>T (p.Ser302Ile)
|
rs2125523018
|
|
|
NM_000404.4(GLB1):c.909G>A (p.Val303=)
|
rs1575451771
|
|
|
NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
|
|
|
|
NM_000404.4(GLB1):c.912C>T (p.Asn304=)
|
rs2125523009
|
|
|
NM_000404.4(GLB1):c.914+15C>T
|
|
|
|
NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
|
|
|
|
NM_000404.4(GLB1):c.914+17T>C
|
|
|
|
NM_000404.4(GLB1):c.914+18G>T
|
|
|
|
NM_000404.4(GLB1):c.914+5G>A
|
|
|
|
NM_000404.4(GLB1):c.914+7G>C
|
rs2125522998
|
|
|
NM_000404.4(GLB1):c.915-11T>G
|
|
|
|
NM_000404.4(GLB1):c.915-14T>C
|
|
|
|
NM_000404.4(GLB1):c.915-18T>C
|
|
|
|
NM_000404.4(GLB1):c.915-1G>T
|
rs749020375
|
|
|
NM_000404.4(GLB1):c.915-2A>G
|
|
|
|
NM_000404.4(GLB1):c.915-4G>A
|
rs1559401172
|
|
|
NM_000404.4(GLB1):c.915-8C>G
|
rs1003927822
|
|
|
NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
|
|
|
|
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
|
|
|
|
NM_000404.4(GLB1):c.936C>A (p.Thr312=)
|
|
|
|
NM_000404.4(GLB1):c.936C>G (p.Thr312=)
|
|
|
|
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
|
|
|
|
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)
|
|
|
|
NM_000404.4(GLB1):c.93G>A (p.Met31Ile)
|
rs1553612598
|
|
|
NM_000404.4(GLB1):c.945C>T (p.Ala315=)
|
rs1405318301
|
|
|
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys)
|
rs72555361
|
|
|
NM_000404.4(GLB1):c.955+14A>C
|
|
|
|
NM_000404.4(GLB1):c.955+2T>G
|
rs746883447
|
|
|
NM_000404.4(GLB1):c.955+5G>A
|
|
|
|
NM_000404.4(GLB1):c.955+8C>T
|
rs757268704
|
|
|
NM_000404.4(GLB1):c.956-14T>C
|
|
|
|
NM_000404.4(GLB1):c.956-19G>A
|
|
|
|
NM_000404.4(GLB1):c.956-19G>T
|
|
|
|
NM_000404.4(GLB1):c.956-4C>A
|
|
|
|
NM_000404.4(GLB1):c.956G>A (p.Gly319Glu)
|
rs2125514180
|
|
|
NM_000404.4(GLB1):c.963C>T (p.Asn321=)
|
rs1698734997
|
|
|
NM_000404.4(GLB1):c.964_965del (p.Ser322fs)
|
rs1698734900
|
|
|
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala)
|
rs1575445193
|
|
|
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
|
|
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
|
NM_000404.4(GLB1):c.975A>G (p.Ala325=)
|
rs1380215832
|
|
|
NM_000404.4(GLB1):c.981G>A (p.Gln327=)
|
|
|
|
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser)
|
rs1244404381
|
|
|
NM_000404.4(GLB1):c.987C>T (p.Thr329=)
|
rs777781037
|
|
|
NM_000404.4(GLB1):c.990C>T (p.Ser330=)
|
|
|
|
NM_000404.4(GLB1):c.994_995del (p.Asp332fs)
|
|
|
|
NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)
|
rs370107958
|
|
|
NM_000404.4(GLB1):c.9G>A (p.Gly3=)
|
rs1175346838
|
|
|
NM_000411.8(HLCS):c.-393+2558C>T
|
|
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
|
NM_000434.4(NEU1):c.*210T>A
|
rs13118
|
|
|
NM_000434.4(NEU1):c.*644A>G
|
rs1435821332
|
|
|
NM_000434.4(NEU1):c.*69G>A
|
rs1762424496
|
|
|
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
|
|
|
|
NM_000434.4(NEU1):c.1021+1G>C
|
rs1486980139
|
|
|
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
|
|
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
|
NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys)
|
rs1310267862
|
|
|
NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter)
|
rs104893971
|
|
|
NM_000434.4(NEU1):c.114_115del (p.Leu40fs)
|
rs754405067
|
|
|
NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter)
|
rs746607723
|
|
|
NM_000434.4(NEU1):c.1208del (p.Ser403fs)
|
|
|
|
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu)
|
rs886061290
|
|
|
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
|
|
|
|
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg)
|
rs104893972
|
|
|
NM_000434.4(NEU1):c.353-2A>G
|
rs864309513
|
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
|
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
|
|
|
|
NM_000434.4(NEU1):c.625del (p.Glu209fs)
|
rs1581820081
|
|
|
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro)
|
rs104893980
|
|
|
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter)
|
rs104893986
|
|
|
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser)
|
rs373311653
|
|
|
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter)
|
rs104893984
|
|
|
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys)
|
rs2151544199
|
|
|
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser)
|
rs104893979
|
|
|
NM_000434.4(NEU1):c.947del (p.Pro316fs)
|
rs2151544098
|
|
|
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]
|
|
|
|
NM_000458.3(HNF1B):c.1046del
|
|
|
|
NM_000458.3:c.1046_*941del
|
|
|
|
NM_000458.3:c.1046_1674del
|
|
|
|
NM_000458.3:c.1_1045del
|
|
|
|
NM_000458.3:c.1_809del
|
|
|
|
NM_000458.3:c.545_1045del
|
|
|
|
NM_000458.4(HNF1B):c.*37G>A
|
rs1555818071
|
|
|
NM_000458.4(HNF1B):c.*409A>C
|
rs2031989734
|
|
|
NM_000458.4(HNF1B):c.*409A>G
|
rs2031989734
|
|
|
NM_000458.4(HNF1B):c.*585T>C
|
rs886052889
|
|
|
NM_000458.4(HNF1B):c.*938A>G
|
rs574000398
|
|
|
NM_000458.4(HNF1B):c.-14dup
|
rs193922481
|
|
|
NM_000458.4(HNF1B):c.-31C>G
|
rs771697321
|
|
|
NM_000458.4(HNF1B):c.-36del
|
rs756559188
|
|
|
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe)
|
rs776928989
|
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
|
NM_000458.4(HNF1B):c.1006del (p.His336fs)
|
|
|
|
NM_000458.4(HNF1B):c.1006dup (p.His336fs)
|
rs1598840795
|
|
|
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
|
|
|
|
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)
|
|
|
|
NM_000458.4(HNF1B):c.1009dup (p.His337fs)
|
rs1598840773
|
|
|
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
|
|
|
|
NM_000458.4(HNF1B):c.1045+330G>T
|
rs9906451
|
|
|
NM_000458.4(HNF1B):c.1046-294_1206+704delinsGGTTTAAGGCACTACATTTTTTGGGAAGGACAGAAATCATGAAGTTAAAAGGAGG
|
|
|
|
NM_000458.4(HNF1B):c.1046-2A>G
|
|
|
|
NM_000458.4(HNF1B):c.1047_1206+1del
|
|
|
|
NM_000458.4(HNF1B):c.1047_1206+1dup
|
|
|
|
NM_000458.4(HNF1B):c.1048dup (p.Val350fs)
|
|
|
|
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
|
|
|
|
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1058G>C (p.Ser353Thr)
|
rs1568645763
|
|
|
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
|
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
|
NM_000458.4(HNF1B):c.1085C>T (p.Ser362Phe)
|
rs1024639436
|
|
|
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
|
|
|
|
NM_000458.4(HNF1B):c.1096_1099del (p.Ile366fs)
|
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
|
NM_000458.4(HNF1B):c.110dup (p.Asn38fs)
|
rs1598854747
|
|
|
NM_000458.4(HNF1B):c.1116C>T (p.Ser372=)
|
rs775094591
|
|
|
NM_000458.4(HNF1B):c.1118_1147del (p.Ala373_Gln383delinsGlu)
|
|
|
|
NM_000458.4(HNF1B):c.1119_1147del (p.Met374fs)
|
rs1598815016
|
|
|
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
|
|
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
|
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)
|
rs1057519371
|
|
|
NM_000458.4(HNF1B):c.1136C>A (p.Ser379Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1138del (p.Val380fs)
|
|
|
|
NM_000458.4(HNF1B):c.1144C>T (p.Gln382Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
|
|
|
|
NM_000458.4(HNF1B):c.1152C>A (p.Val384=)
|
|
|
|
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
|
|
|
|
NM_000458.4(HNF1B):c.1180A>G (p.Asn394Asp)
|
rs2032897142
|
|
|
NM_000458.4(HNF1B):c.1188C>T (p.Leu396=)
|
|
|
|
NM_000458.4(HNF1B):c.1206+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.1206+1G>C
|
|
|
|
NM_000458.4(HNF1B):c.1206+42_1206+46del
|
rs142240844
|
|
|
NM_000458.4(HNF1B):c.1207-247_1207-246insGG
|
rs10701156
|
|
|
NM_000458.4(HNF1B):c.1207-7C>T
|
rs1215174368
|
|
|
NM_000458.4(HNF1B):c.121del (p.Gly40_Val41insTer)
|
rs1555833144
|
|
|
NM_000458.4(HNF1B):c.1235dup (p.Val413fs)
|
rs1598809747
|
|
|
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
|
|
|
|
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
|
|
|
|
NM_000458.4(HNF1B):c.1258dup (p.His420fs)
|
rs1598809697
|
|
|
NM_000458.4(HNF1B):c.1282C>T (p.Gln428Ter)
|
rs2032692897
|
|
|
NM_000458.4(HNF1B):c.1299del (p.Ile434fs)
|
|
|
|
NM_000458.4(HNF1B):c.1302del (p.Ile434_Met435insTer)
|
|
|
|
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
|
|
|
|
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
|
|
|
|
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
|
|
|
|
NM_000458.4(HNF1B):c.1333_1334del (p.Ala445fs)
|
rs2147457839
|
|
|
NM_000458.4(HNF1B):c.1336C>G (p.Gln446Glu)
|
rs1568641291
|
|
|
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)
|
rs776536485
|
|
|
NM_000458.4(HNF1B):c.1339+12T>C
|
rs1375568430
|
|
|
NM_000458.4(HNF1B):c.1339+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.1340-3C>G
|
rs2032559501
|
|
|
NM_000458.4(HNF1B):c.1340-3C>T
|
rs2032559501
|
|
|
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
|
|
|
|
NM_000458.4(HNF1B):c.135G>A (p.Thr45=)
|
rs2034121058
|
|
|
NM_000458.4(HNF1B):c.1360C>T (p.Gln454Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1360_1361del (p.Gln454fs)
|
|
|
|
NM_000458.4(HNF1B):c.1363_1364del (p.Ser455fs)
|
|
|
|
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
|
|
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
|
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg)
|
rs982085453
|
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
|
NM_000458.4(HNF1B):c.1396C>G (p.Leu466Val)
|
rs1555821665
|
|
|
NM_000458.4(HNF1B):c.1406_1413dup (p.Val472fs)
|
rs1598806177
|
|
|
NM_000458.4(HNF1B):c.1408C>T (p.Gln470Ter)
|
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg)
|
rs886052891
|
|
|
NM_000458.4(HNF1B):c.1429C>T (p.Gln477Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
|
|
|
|
NM_000458.4(HNF1B):c.143del (p.Leu48fs)
|
|
|
|
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
|
|
|
|
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
|
|
|
|
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=)
|
rs773569563
|
|
|
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
|
|
|
|
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
|
|
|
|
NM_000458.4(HNF1B):c.1505C>A (p.Ala502Glu)
|
rs2032548578
|
|
|
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val)
|
rs2032548578
|
|
|
NM_000458.4(HNF1B):c.150T>G (p.Pro50=)
|
rs2034119944
|
|
|
NM_000458.4(HNF1B):c.1517del (p.Gln506fs)
|
|
|
|
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
|
|
|
|
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
|
|
|
|
NM_000458.4(HNF1B):c.1561C>T (p.Gln521Ter)
|
|
|
|
NM_000458.4(HNF1B):c.1561dup (p.Gln521fs)
|
rs764042837
|
|
|
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)
|
rs2034119580
|
|
|
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
|
|
|
|
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
|
|
|
|
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=)
|
rs1568636744
|
|
|
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
|
|
|
|
NM_000458.4(HNF1B):c.1654-11T>C
|
rs193922484
|
|
|
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC
|
rs386134268
|
|
|
NM_000458.4(HNF1B):c.1654-14CT[4]
|
rs886052890
|
|
|
NM_000458.4(HNF1B):c.1654-2A>T
|
|
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
|
NM_000458.4(HNF1B):c.1663C>A (p.Gln555Lys)
|
rs886044437
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
|
NM_000458.4(HNF1B):c.187del (p.His63fs)
|
rs2034117925
|
|
|
NM_000458.4(HNF1B):c.18del (p.Ser7fs)
|
|
|
|
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)
|
rs767576616
|
|
|
NM_000458.4(HNF1B):c.206_207del (p.His69fs)
|
|
|
|
NM_000458.4(HNF1B):c.207_211del (p.His69fs)
|
|
|
|
NM_000458.4(HNF1B):c.211_217del (p.Lys71fs)
|
|
|
|
NM_000458.4(HNF1B):c.215del (p.Gly72fs)
|
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
|
NM_000458.4(HNF1B):c.221T>G (p.Leu74Trp)
|
rs193922486
|
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
|
NM_000458.4(HNF1B):c.230_233del (p.Asp77fs)
|
rs1555833071
|
|
|
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)
|
|
|
|
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
|
|
|
|
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)
|
rs2034113963
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
|
|
|
|
NM_000458.4(HNF1B):c.252del (p.Asp84fs)
|
|
|
|
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly)
|
rs984116301
|
|
|
NM_000458.4(HNF1B):c.262A>G (p.Thr88Ala)
|
rs1555833051
|
|
|
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
|
|
|
|
NM_000458.4(HNF1B):c.280G>T (p.Glu94Ter)
|
|
|
|
NM_000458.4(HNF1B):c.280del (p.Glu94fs)
|
|
|
|
NM_000458.4(HNF1B):c.281_284dup (p.Gln96fs)
|
|
|
|
NM_000458.4(HNF1B):c.298A>T (p.Thr100Ser)
|
rs1568675935
|
|
|
NM_000458.4(HNF1B):c.300C>T (p.Thr100=)
|
rs369134247
|
|
|
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
|
|
|
|
NM_000458.4(HNF1B):c.309G>C (p.Ala103=)
|
rs1197263675
|
|
|
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
|
|
|
|
NM_000458.4(HNF1B):c.322del (p.Ala108fs)
|
|
|
|
NM_000458.4(HNF1B):c.324_340del (p.Glu109fs)
|
rs1598854261
|
|
|
NM_000458.4(HNF1B):c.325G>C (p.Glu109Gln)
|
rs757044850
|
|
|
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
|
|
|
|
NM_000458.4(HNF1B):c.335G>C (p.Arg112Pro)
|
|
|
|
NM_000458.4(HNF1B):c.335_342del (p.Arg112fs)
|
|
|
|
NM_000458.4(HNF1B):c.339G>A (p.Met113Ile)
|
rs764079701
|
|
|
NM_000458.4(HNF1B):c.344+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.344+2T>C
|
|
|
|
NM_000458.4(HNF1B):c.344+2_344+5del
|
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
|
NM_000458.4(HNF1B):c.345-1G>A
|
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
|
NM_000458.4(HNF1B):c.345-2A>G
|
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
|
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
|
|
|
|
NM_000458.4(HNF1B):c.353del (p.Pro118fs)
|
|
|
|
NM_000458.4(HNF1B):c.356G>A (p.Trp119Ter)
|
|
|
|
NM_000458.4(HNF1B):c.364G>A (p.Ala122Thr)
|
rs1568670778
|
|
|
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
|
|
|
|
NM_000458.4(HNF1B):c.374T>C (p.Ile125Thr)
|
|
|
|
NM_000458.4(HNF1B):c.375C>A (p.Ile125=)
|
|
|
|
NM_000458.4(HNF1B):c.386_392del (p.Met129fs)
|
|
|
|
NM_000458.4(HNF1B):c.391C>T (p.Gln131Ter)
|
|
|
|
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
|
|
|
|
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
|
|
|
|
NM_000458.4(HNF1B):c.398A>G (p.Asn133Ser)
|
|
|
|
NM_000458.4(HNF1B):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000458.4(HNF1B):c.3G>T (p.Met1Ile)
|
|
|
|
NM_000458.4(HNF1B):c.402C>T (p.Ile134=)
|
rs1555831433
|
|
|
NM_000458.4(HNF1B):c.406C>G (p.Gln136Glu)
|
|
|
|
NM_000458.4(HNF1B):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_000458.4(HNF1B):c.406dup (p.Gln136fs)
|
rs886041820
|
|
|
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
|
|
|
|
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
|
|
|
|
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
|
|
|
|
NM_000458.4(HNF1B):c.437A>C (p.Asn146Thr)
|
|
|
|
NM_000458.4(HNF1B):c.438C>T (p.Asn146=)
|
rs2033930573
|
|
|
NM_000458.4(HNF1B):c.439C>T (p.Gln147Ter)
|
|
|
|
NM_000458.4(HNF1B):c.443C>A (p.Ser148Ter)
|
|
|
|
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
|
|
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
|
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
|
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|
|
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
|
|
|
|
NM_000458.4(HNF1B):c.457C>A (p.His153Asn)
|
|
|
|
NM_000458.4(HNF1B):c.458A>G (p.His153Arg)
|
rs1598848762
|
|
|
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
|
|
|
|
NM_000458.4(HNF1B):c.466A>G (p.Lys156Glu)
|
|
|
|
NM_000458.4(HNF1B):c.46del (p.Leu16fs)
|
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|
NM_000458.4(HNF1B):c.471del (p.Thr158fs)
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|
NM_000458.4(HNF1B):c.472_473insTGCAGCCC (p.Thr158fs)
|
|
|
|
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)
|
rs1568670646
|
|
|
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
|
|
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
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|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
|
NM_000458.4(HNF1B):c.478A>G (p.Met160Val)
|
|
|
|
NM_000458.4(HNF1B):c.479T>C (p.Met160Thr)
|
|
|
|
NM_000458.4(HNF1B):c.479T>G (p.Met160Arg)
|
rs886043903
|
|
|
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
|
|
|
|
NM_000458.4(HNF1B):c.481A>T (p.Lys161Ter)
|
rs2033928772
|
|
|
NM_000458.4(HNF1B):c.484del (p.Thr162fs)
|
|
|
|
NM_000458.4(HNF1B):c.487del (p.Gln163fs)
|
|
|
|
NM_000458.4(HNF1B):c.490A>C (p.Lys164Gln)
|
|
|
|
NM_000458.4(HNF1B):c.493C>T (p.Arg165Cys)
|
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|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
|
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
|
|
|
|
NM_000458.4(HNF1B):c.495_496del (p.Ala166fs)
|
rs2033927631
|
|
|
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
|
|
|
|
NM_000458.4(HNF1B):c.499_504delinsCCCCT (p.Ala167fs)
|
rs1598848672
|
|
|
NM_000458.4(HNF1B):c.505T>C (p.Tyr169His)
|
|
|
|
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
|
|
|
|
NM_000458.4(HNF1B):c.513G>A (p.Trp171Ter)
|
|
|
|
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
|
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|
|
NM_000458.4(HNF1B):c.515del (p.Tyr172fs)
|
|
|
|
NM_000458.4(HNF1B):c.516C>T (p.Tyr172=)
|
rs764561297
|
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
|
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
|
|
|
|
NM_000458.4(HNF1B):c.522_525del (p.Arg174fs)
|
|
|
|
NM_000458.4(HNF1B):c.526C>T (p.Gln176Ter)
|
|
|
|
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
|
|
|
|
NM_000458.4(HNF1B):c.534del (p.Ile179fs)
|
|
|
|
NM_000458.4(HNF1B):c.541C>T (p.Arg181Ter)
|
|
|
|
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
|
|
|
|
NM_000458.4(HNF1B):c.544+14T>A
|
rs759120365
|
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.544+1G>C
|
|
|
|
NM_000458.4(HNF1B):c.544+1G>T
|
|
|
|
NM_000458.4(HNF1B):c.544+2_544+3dup
|
|
|
|
NM_000458.4(HNF1B):c.544+2dup
|
|
|
|
NM_000458.4(HNF1B):c.544+3_544+4insT
|
|
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
|
|
|
NM_000458.4(HNF1B):c.544+7G>A
|
rs1004961534
|
|
|
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_000458.4(HNF1B):c.545-73TCTG[3]
|
rs3216929
|
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
|
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
|
|
|
|
NM_000458.4(HNF1B):c.58G>C (p.Gly20Arg)
|
rs1052557621
|
|
|
NM_000458.4(HNF1B):c.60G>A (p.Gly20=)
|
|
|
|
NM_000458.4(HNF1B):c.61G>A (p.Val21Ile)
|
rs1304695155
|
|
|
NM_000458.4(HNF1B):c.61dup (p.Val21fs)
|
rs2034124973
|
|
|
NM_000458.4(HNF1B):c.628del (p.Ser210fs)
|
rs2147553490
|
|
|
NM_000458.4(HNF1B):c.632_635dup (p.Ser213fs)
|
|
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
|
NM_000458.4(HNF1B):c.636G>C (p.Gln212His)
|
rs1388963837
|
|
|
NM_000458.4(HNF1B):c.657C>T (p.Ser219=)
|
rs148713761
|
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
|
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
|
|
|
|
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
|
|
|
|
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
|
|
|
|
NM_000458.4(HNF1B):c.703C>A (p.Arg235=)
|
rs193922491
|
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
|
|
|
|
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
|
|
|
|
NM_000458.4(HNF1B):c.70del (p.Glu24fs)
|
|
|
|
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
|
|
|
|
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
|
|
|
|
NM_000458.4(HNF1B):c.715G>C (p.Gly239Arg)
|
|
|
|
NM_000458.4(HNF1B):c.715_717del (p.Gly239del)
|
rs1598842892
|
|
|
NM_000458.4(HNF1B):c.716G>A (p.Gly239Glu)
|
|
|
|
NM_000458.4(HNF1B):c.717del (p.Ala241fs)
|
|
|
|
NM_000458.4(HNF1B):c.717dup (p.Pro240fs)
|
rs1598842892
|
|
|
NM_000458.4(HNF1B):c.719_720dup (p.Ala241fs)
|
rs1598842886
|
|
|
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
|
|
|
|
NM_000458.4(HNF1B):c.727del (p.Gln243fs)
|
|
|
|
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
|
|
|
|
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
|
|
|
|
NM_000458.4(HNF1B):c.738G>A (p.Leu246=)
|
rs775562256
|
|
|
NM_000458.4(HNF1B):c.742C>T (p.Gln248Ter)
|
|
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
|
NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln)
|
rs529294719
|
|
|
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
|
|
|
|
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
|
|
|
|
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
|
|
|
|
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
|
|
|
|
NM_000458.4(HNF1B):c.778G>A (p.Glu260Lys)
|
rs1568665613
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
|
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
|
|
|
|
NM_000458.4(HNF1B):c.786_787dup (p.Ala263fs)
|
|
|
|
NM_000458.4(HNF1B):c.789del (p.Ala263_Leu264insTer)
|
|
|
|
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
|
|
|
|
NM_000458.4(HNF1B):c.809+1G>A
|
|
|
|
NM_000458.4(HNF1B):c.809+1G>T
|
|
|
|
NM_000458.4(HNF1B):c.810-2A>C
|
|
|
|
NM_000458.4(HNF1B):c.810-4C>G
|
|
|
|
NM_000458.4(HNF1B):c.811_1045+1del
|
|
|
|
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
|
|
|
|
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
|
|
|
|
NM_000458.4(HNF1B):c.819T>C (p.Cys273=)
|
rs1568664272
|
|
|
NM_000458.4(HNF1B):c.823C>T (p.Gln275Ter)
|
|
|
|
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
|
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
|
NM_000458.4(HNF1B):c.827G>A (p.Arg276Gln)
|
|
|
|
NM_000458.4(HNF1B):c.831G>A (p.Gly277=)
|
rs199797518
|
|
|
NM_000458.4(HNF1B):c.840del (p.Ser281fs)
|
|
|
|
NM_000458.4(HNF1B):c.840dup (p.Ser281fs)
|
rs1598841082
|
|
|
NM_000458.4(HNF1B):c.850del (p.His284fs)
|
|
|
|
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
|
|
|
|
NM_000458.4(HNF1B):c.854G>A (p.Gly285Asp)
|
|
|
|
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
|
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
|
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
|
|
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
|
NM_000458.4(HNF1B):c.869T>A (p.Leu290Ter)
|
|
|
|
NM_000458.4(HNF1B):c.883C>T (p.Arg295Cys)
|
|
|
|
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
|
|
|
|
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
|
|
|
|
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
|
|
|
|
NM_000458.4(HNF1B):c.892A>G (p.Asn298Asp)
|
rs1598841002
|
|
|
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
|
|
|
|
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter)
|
rs1598840996
|
|
|
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
|
|
|
|
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
|
|
|
|
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
|
rs2033692404
|
|
|
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly)
|
rs2033692285
|
|
|
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)
|
rs988279557
|
|
|
NM_000458.4(HNF1B):c.931C>T (p.Gln311Ter)
|
|
|
|
NM_000458.4(HNF1B):c.935dup (p.Leu313fs)
|
|
|
|
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
|
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
|
NM_000458.4(HNF1B):c.949del (p.Ala317fs)
|
|
|
|
NM_000458.4(HNF1B):c.953dup (p.Tyr318Ter)
|
|
|
|
NM_000458.4(HNF1B):c.961A>G (p.Asn321Asp)
|
rs1208894321
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
|
NM_000458.4(HNF1B):c.967dup (p.Thr323fs)
|
|
|
|
NM_000458.4(HNF1B):c.972C>A (p.His324Gln)
|
rs753631084
|
|
|
NM_000458.4(HNF1B):c.972_973del (p.His324fs)
|
|
|
|
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
|
|
|
|
NM_000458.4(HNF1B):c.983C>G (p.Pro328Arg)
|
rs764132839
|
|
|
NM_000458.4(HNF1B):c.983del (p.Pro328fs)
|
|
|
|
NM_000458.4(HNF1B):c.9C>G (p.Ser3=)
|
|
|
|
NM_000458.4:c.(?_-1)_(*1_?)del
|
|
|
|
NM_000458.4:c.(?_-1)_(544+1_545-1)del
|
|
|
|
NM_000458.4:c.810_1045del
|
|
|
|
NM_000485.3(APRT):c.*178A>G
|
rs4695
|
|
|
NM_000507.4(FBP1):c.*127C>T
|
rs1827636938
|
|
|
NM_000507.4(FBP1):c.*248del
|
rs11351544
|
|
|
NM_000507.4(FBP1):c.-208C>G
|
rs759920853
|
|
|
NM_000507.4(FBP1):c.-54C>A
|
rs1057515690
|
|
|
NM_000507.4(FBP1):c.1008T>C (p.Ser336=)
|
|
|
|
NM_000507.4(FBP1):c.1012del (p.Gln338fs)
|
|
|
|
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)
|
rs1554682769
|
|
|
NM_000507.4(FBP1):c.120A>G (p.Thr40=)
|
|
|
|
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)
|
rs2131509216
|
|
|
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
|
|
|
|
NM_000507.4(FBP1):c.138T>C (p.Ser46=)
|
|
|
|
NM_000507.4(FBP1):c.144G>A (p.Ala48=)
|
|
|
|
NM_000507.4(FBP1):c.144G>T (p.Ala48=)
|
|
|
|
NM_000507.4(FBP1):c.156G>C (p.Ala52=)
|
|
|
|
NM_000507.4(FBP1):c.168C>T (p.His56=)
|
|
|
|
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
|
rs1427047737
|
|
|
NM_000507.4(FBP1):c.170+18C>T
|
|
|
|
NM_000507.4(FBP1):c.170+19G>T
|
|
|
|
NM_000507.4(FBP1):c.170+4A>G
|
|
|
|
NM_000507.4(FBP1):c.170+4del
|
rs2131509125
|
|
|
NM_000507.4(FBP1):c.170+7C>T
|
|
|
|
NM_000507.4(FBP1):c.170+9G>A
|
|
|
|
NM_000507.4(FBP1):c.171-11G>A
|
|
|
|
NM_000507.4(FBP1):c.171-11G>T
|
|
|
|
NM_000507.4(FBP1):c.171-17G>T
|
|
|
|
NM_000507.4(FBP1):c.171-20G>A
|
|
|
|
NM_000507.4(FBP1):c.171-4G>A
|
|
|
|
NM_000507.4(FBP1):c.171-6C>T
|
rs930280429
|
|
|
NM_000507.4(FBP1):c.183T>C (p.Ala61=)
|
|
|
|
NM_000507.4(FBP1):c.186T>C (p.Gly62=)
|
|
|
|
NM_000507.4(FBP1):c.1_170del (p.Met1fs)
|
rs1563991556
|
|
|
NM_000507.4(FBP1):c.216G>A (p.Lys72=)
|
|
|
|
NM_000507.4(FBP1):c.222G>C (p.Leu74=)
|
|
|
|
NM_000507.4(FBP1):c.225C>T (p.Asp75=)
|
|
|
|
NM_000507.4(FBP1):c.228C>T (p.Val76=)
|
|
|
|
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)
|
rs41316538
|
|
|
NM_000507.4(FBP1):c.276G>A (p.Thr92=)
|
|
|
|
NM_000507.4(FBP1):c.27G>C (p.Thr9=)
|
|
|
|
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
|
|
|
|
NM_000507.4(FBP1):c.285C>T (p.Leu95=)
|
|
|
|
NM_000507.4(FBP1):c.288G>A (p.Val96=)
|
|
|
|
NM_000507.4(FBP1):c.288G>T (p.Val96=)
|
|
|
|
NM_000507.4(FBP1):c.30C>T (p.Asp10=)
|
|
|
|
NM_000507.4(FBP1):c.312C>A (p.Ile104=)
|
|
|
|
NM_000507.4(FBP1):c.312C>T (p.Ile104=)
|
|
|
|
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu)
|
|
|
|
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
|
|
|
|
NM_000507.4(FBP1):c.333+15C>T
|
|
|
|
NM_000507.4(FBP1):c.333+16C>G
|
|
|
|
NM_000507.4(FBP1):c.333+16C>T
|
|
|
|
NM_000507.4(FBP1):c.333+17A>G
|
|
|
|
NM_000507.4(FBP1):c.333+2T>G
|
|
|
|
NM_000507.4(FBP1):c.333+8T>C
|
|
|
|
NM_000507.4(FBP1):c.334-12T>C
|
|
|
|
NM_000507.4(FBP1):c.334-17C>T
|
|
|
|
NM_000507.4(FBP1):c.334-5C>G
|
|
|
|
NM_000507.4(FBP1):c.342T>C (p.Tyr114=)
|
|
|
|
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
|
|
|
|
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)
|
rs1563983269
|
|
|
NM_000507.4(FBP1):c.360C>G (p.Pro120=)
|
|
|
|
NM_000507.4(FBP1):c.366T>C (p.Asp122=)
|
|
|
|
NM_000507.4(FBP1):c.369A>C (p.Gly123=)
|
|
|
|
NM_000507.4(FBP1):c.381C>T (p.Ile127=)
|
|
|
|
NM_000507.4(FBP1):c.390T>C (p.Leu130=)
|
|
|
|
NM_000507.4(FBP1):c.392del (p.Val131fs)
|
rs2131486442
|
|
|
NM_000507.4(FBP1):c.396C>A (p.Ser132=)
|
|
|
|
NM_000507.4(FBP1):c.396C>T (p.Ser132=)
|
|
|
|
NM_000507.4(FBP1):c.39C>A (p.Thr13=)
|
|
|
|
NM_000507.4(FBP1):c.39C>T (p.Thr13=)
|
|
|
|
NM_000507.4(FBP1):c.405C>T (p.Thr135=)
|
|
|
|
NM_000507.4(FBP1):c.420T>C (p.Tyr140=)
|
|
|
|
NM_000507.4(FBP1):c.426+12T>C
|
|
|
|
NM_000507.4(FBP1):c.426+14T>A
|
|
|
|
NM_000507.4(FBP1):c.426+14T>C
|
|
|
|
NM_000507.4(FBP1):c.426+1G>A
|
rs1563983184
|
|
|
NM_000507.4(FBP1):c.426+1G>T
|
rs1563983184
|
|
|
NM_000507.4(FBP1):c.426+20G>A
|
|
|
|
NM_000507.4(FBP1):c.426+7_426+23del
|
|
|
|
NM_000507.4(FBP1):c.426+8G>A
|
|
|
|
NM_000507.4(FBP1):c.427-15TCTT[3]
|
|
|
|
NM_000507.4(FBP1):c.427-2A>G
|
|
|
|
NM_000507.4(FBP1):c.42G>A (p.Leu14=)
|
|
|
|
NM_000507.4(FBP1):c.435T>A (p.Thr145=)
|
|
|
|
NM_000507.4(FBP1):c.450G>A (p.Glu150=)
|
|
|
|
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
|
rs1827760551
|
|
|
NM_000507.4(FBP1):c.456T>C (p.Asp152=)
|
|
|
|
NM_000507.4(FBP1):c.468A>G (p.Pro156=)
|
|
|
|
NM_000507.4(FBP1):c.472C>A (p.Arg158=)
|
|
|
|
NM_000507.4(FBP1):c.474G>C (p.Arg158=)
|
rs764960075
|
|
|
NM_000507.4(FBP1):c.477C>T (p.Asn159=)
|
|
|
|
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg)
|
|
|
|
NM_000507.4(FBP1):c.489C>T (p.Ala163=)
|
|
|
|
NM_000507.4(FBP1):c.498A>C (p.Ala166=)
|
rs778151034
|
|
|
NM_000507.4(FBP1):c.501G>A (p.Leu167=)
|
|
|
|
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
|
|
|
|
NM_000507.4(FBP1):c.504T>C (p.Tyr168=)
|
|
|
|
NM_000507.4(FBP1):c.520C>T (p.Leu174=)
|
|
|
|
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg)
|
|
|
|
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp)
|
rs121918189
|
|
|
NM_000507.4(FBP1):c.544del (p.Val182fs)
|
rs1827757538
|
|
|
NM_000507.4(FBP1):c.559C>T (p.Leu187=)
|
|
|
|
NM_000507.4(FBP1):c.567+15A>G
|
|
|
|
NM_000507.4(FBP1):c.567+9C>A
|
|
|
|
NM_000507.4(FBP1):c.568-13C>T
|
|
|
|
NM_000507.4(FBP1):c.56dup (p.Met19fs)
|
|
|
|
NM_000507.4(FBP1):c.573C>T (p.Ile191=)
|
|
|
|
NM_000507.4(FBP1):c.576G>A (p.Gly192=)
|
|
|
|
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
|
rs1563979243
|
|
|
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser)
|
rs121918191
|
|
|
NM_000507.4(FBP1):c.586T>C (p.Leu196=)
|
|
|
|
NM_000507.4(FBP1):c.597G>A (p.Lys199=)
|
|
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
|
NM_000507.4(FBP1):c.630C>T (p.Tyr210=)
|
|
|
|
NM_000507.4(FBP1):c.633C>T (p.Ser211=)
|
|
|
|
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
|
|
|
|
NM_000507.4(FBP1):c.63G>A (p.Glu21=)
|
|
|
|
NM_000507.4(FBP1):c.648C>T (p.Tyr216=)
|
|
|
|
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
|
|
|
|
NM_000507.4(FBP1):c.663C>T (p.Asp221=)
|
rs772690496
|
|
|
NM_000507.4(FBP1):c.669C>T (p.Ala223=)
|
|
|
|
NM_000507.4(FBP1):c.66C>G (p.Gly22=)
|
|
|
|
NM_000507.4(FBP1):c.672C>T (p.Val224=)
|
|
|
|
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile)
|
rs2297085
|
|
|
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)
|
rs2297085
|
|
|
NM_000507.4(FBP1):c.704C>T (p.Pro235Leu)
|
|
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
|
NM_000507.4(FBP1):c.705+14C>G
|
|
|
|
NM_000507.4(FBP1):c.705+15G>A
|
|
|
|
NM_000507.4(FBP1):c.705+16G>C
|
|
|
|
NM_000507.4(FBP1):c.705+18G>A
|
|
|
|
NM_000507.4(FBP1):c.705+20G>A
|
|
|
|
NM_000507.4(FBP1):c.705+9G>C
|
|
|
|
NM_000507.4(FBP1):c.706-10T>C
|
|
|
|
NM_000507.4(FBP1):c.706-11T>A
|
|
|
|
NM_000507.4(FBP1):c.706-12C>G
|
|
|
|
NM_000507.4(FBP1):c.706-4G>A
|
|
|
|
NM_000507.4(FBP1):c.706-9A>C
|
|
|
|
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)
|
rs1060499726
|
|
|
NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
|
|
|
|
NM_000507.4(FBP1):c.729C>T (p.Ala243=)
|
|
|
|
NM_000507.4(FBP1):c.740dup (p.Ser248fs)
|
|
|
|
NM_000507.4(FBP1):c.741C>T (p.Gly247=)
|
|
|
|
NM_000507.4(FBP1):c.762T>C (p.His254=)
|
|
|
|
NM_000507.4(FBP1):c.763C>T (p.Arg255Cys)
|
rs944699141
|
|
|
NM_000507.4(FBP1):c.779del (p.Gly260fs)
|
rs1554679825
|
|
|
NM_000507.4(FBP1):c.801T>C (p.Ala267=)
|
|
|
|
NM_000507.4(FBP1):c.81C>T (p.Gly27=)
|
|
|
|
NM_000507.4(FBP1):c.825+11C>T
|
|
|
|
NM_000507.4(FBP1):c.825+1G>A
|
rs111437558
|
|
|
NM_000507.4(FBP1):c.825+7G>T
|
|
|
|
NM_000507.4(FBP1):c.826-12C>T
|
|
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
|
NM_000507.4(FBP1):c.826-16C>T
|
|
|
|
NM_000507.4(FBP1):c.826-17C>A
|
|
|
|
NM_000507.4(FBP1):c.826-22G>A
|
rs28369775
|
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
|
NM_000507.4(FBP1):c.837G>A (p.Leu279=)
|
|
|
|
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
|
rs566453434
|
|
|
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)
|
rs566453434
|
|
|
NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
|
|
|
|
NM_000507.4(FBP1):c.846C>T (p.Cys282=)
|
|
|
|
NM_000507.4(FBP1):c.849C>T (p.Asn283=)
|
|
|
|
NM_000507.4(FBP1):c.84G>C (p.Thr28=)
|
|
|
|
NM_000507.4(FBP1):c.851C>G (p.Pro284Arg)
|
rs121918192
|
|
|
NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
|
|
|
|
NM_000507.4(FBP1):c.861C>T (p.Tyr287=)
|
|
|
|
NM_000507.4(FBP1):c.87C>A (p.Gly29=)
|
|
|
|
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
|
|
|
|
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
|
|
|
|
NM_000507.4(FBP1):c.88G>T (p.Glu30Ter)
|
rs121918190
|
|
|
NM_000507.4(FBP1):c.894T>C (p.Thr298=)
|
|
|
|
NM_000507.4(FBP1):c.900G>A (p.Lys300=)
|
|
|
|
NM_000507.4(FBP1):c.903G>A (p.Glu301=)
|
|
|
|
NM_000507.4(FBP1):c.91T>C (p.Leu31=)
|
|
|
|
NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)
|
|
|
|
NM_000507.4(FBP1):c.945G>A (p.Ala315=)
|
|
|
|
NM_000507.4(FBP1):c.948G>A (p.Pro316=)
|
|
|
|
NM_000507.4(FBP1):c.951G>T (p.Val317=)
|
|
|
|
NM_000507.4(FBP1):c.957G>A (p.Leu319=)
|
|
|
|
NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)
|
|
|
|
NM_000507.4(FBP1):c.960del (p.Ser321fs)
|
|
|
|
NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)
|
rs1057517733
|
|
|
NM_000507.4(FBP1):c.961dup (p.Ser321fs)
|
|
|
|
NM_000507.4(FBP1):c.966C>T (p.Pro322=)
|
|
|
|
NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
|
|
NM_000507.4(FBP1):c.969C>T (p.Asp323=)
|
|
|
|
NM_000507.4(FBP1):c.96C>A (p.Thr32=)
|
|
|
|
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
|
rs1827640590
|
|
|
NM_000507.4(FBP1):c.972C>T (p.Asp324=)
|
|
|
|
NM_000507.4(FBP1):c.978C>G (p.Leu326=)
|
|
|
|
NM_000507.4(FBP1):c.981G>A (p.Glu327=)
|
|
|
|
NM_000507.4(FBP1):c.984C>T (p.Phe328=)
|
|
|
|
NM_000507.4(FBP1):c.985C>A (p.Leu329Met)
|
rs2131469421
|
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
|
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)
|
rs118204436
|
|
|
NM_000512.5(GALNS):c.*123G>C
|
rs886052453
|
|
|
NM_000512.5(GALNS):c.*207G>T
|
rs886052452
|
|
|
NM_000512.5(GALNS):c.*212C>A
|
rs117754023
|
|
|
NM_000512.5(GALNS):c.*261T>G
|
rs915733731
|
|
|
NM_000512.5(GALNS):c.*270T>C
|
rs1909389591
|
|
|
NM_000512.5(GALNS):c.*387T>G
|
rs1909377767
|
|
|
NM_000512.5(GALNS):c.*520C>A
|
rs80125890
|
|
|
NM_000512.5(GALNS):c.*70T>C
|
rs933630786
|
|
|
NM_000512.5(GALNS):c.-10C>G
|
rs781533703
|
|
|
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)
|
rs2143013673
|
|
|
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
|
|
|
|
NM_000512.5(GALNS):c.-42G>T
|
rs1433642862
|
|
|
NM_000512.5(GALNS):c.-58C>A
|
rs1244075467
|
|
|
NM_000512.5(GALNS):c.-58C>G
|
rs1244075467
|
|
|
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)
|
rs1567526805
|
|
|
NM_000512.5(GALNS):c.1002+16C>G
|
|
|
|
NM_000512.5(GALNS):c.1002+16C>T
|
|
|
|
NM_000512.5(GALNS):c.1002+19G>C
|
|
|
|
NM_000512.5(GALNS):c.1002+19G>T
|
|
|
|
NM_000512.5(GALNS):c.1002+307G>C
|
rs866140272
|
|
|
NM_000512.5(GALNS):c.1002+4A>T
|
|
|
|
NM_000512.5(GALNS):c.1002+7C>G
|
|
|
|
NM_000512.5(GALNS):c.1002+8A>G
|
|
|
|
NM_000512.5(GALNS):c.1003-1570G>T
|
rs2142996885
|
|
|
NM_000512.5(GALNS):c.1003-16C>T
|
|
|
|
NM_000512.5(GALNS):c.1003-2A>C
|
rs1344555845
|
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
|
NM_000512.5(GALNS):c.1009del (p.His337fs)
|
rs2142995881
|
|
|
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)
|
rs1352806619
|
|
|
NM_000512.5(GALNS):c.100C>T (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
|
NM_000512.5(GALNS):c.1011C>T (p.His337=)
|
|
|
|
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
|
rs1244322663
|
|
|
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
|
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
|
|
|
|
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
|
|
|
|
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)
|
rs2142995871
|
|
|
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu)
|
rs1910977435
|
|
|
NM_000512.5(GALNS):c.102G>C (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.102G>T (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn)
|
rs2142995864
|
|
|
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu)
|
rs1407467035
|
|
|
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro)
|
rs2142995853
|
|
|
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
|
|
|
|
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu)
|
rs766504053
|
|
|
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
|
|
|
|
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala)
|
rs1597547797
|
|
|
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn)
|
rs368305568
|
|
|
NM_000512.5(GALNS):c.1046del (p.Ser349fs)
|
rs2142995845
|
|
|
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
|
rs1910973930
|
|
|
NM_000512.5(GALNS):c.1050G>C (p.Leu350=)
|
|
|
|
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
|
|
|
|
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)
|
rs2142995830
|
|
|
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu)
|
rs774113183
|
|
|
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val)
|
rs774113183
|
|
|
NM_000512.5(GALNS):c.105C>A (p.Leu35=)
|
|
|
|
NM_000512.5(GALNS):c.105C>G (p.Leu35=)
|
|
|
|
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
|
|
|
|
NM_000512.5(GALNS):c.1070del (p.Pro357fs)
|
rs2142995810
|
|
|
NM_000512.5(GALNS):c.1071G>T (p.Pro357=)
|
rs374619390
|
|
|
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
|
|
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
|
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met)
|
rs2142995799
|
|
|
NM_000512.5(GALNS):c.1083G>A (p.Arg361=)
|
rs2142995796
|
|
|
NM_000512.5(GALNS):c.1086C>T (p.Ala362=)
|
rs2142995793
|
|
|
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
|
|
|
|
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)
|
rs2142995782
|
|
|
NM_000512.5(GALNS):c.1095C>T (p.Gly365=)
|
|
|
|
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro)
|
rs971227692
|
|
|
NM_000512.5(GALNS):c.1101C>T (p.Asn367=)
|
|
|
|
NM_000512.5(GALNS):c.1104C>A (p.Leu368=)
|
|
|
|
NM_000512.5(GALNS):c.1104C>T (p.Leu368=)
|
rs1322856128
|
|
|
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro)
|
rs2142995771
|
|
|
NM_000512.5(GALNS):c.1110C>T (p.Pro370=)
|
|
|
|
NM_000512.5(GALNS):c.1113C>G (p.Thr371=)
|
|
|
|
NM_000512.5(GALNS):c.1113C>T (p.Thr371=)
|
rs375098009
|
|
|
NM_000512.5(GALNS):c.1114del (p.Leu372fs)
|
rs2142995760
|
|
|
NM_000512.5(GALNS):c.1119G>C (p.Leu373=)
|
|
|
|
NM_000512.5(GALNS):c.111C>T (p.Leu37=)
|
|
|
|
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)
|
rs761455237
|
|
|
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
|
|
|
|
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)
|
rs1306083557
|
|
|
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)
|
rs770908172
|
|
|
NM_000512.5(GALNS):c.1139+14C>T
|
|
|
|
NM_000512.5(GALNS):c.1139+18C>A
|
|
|
|
NM_000512.5(GALNS):c.1139+1G>A
|
rs765608680
|
|
|
NM_000512.5(GALNS):c.1139+20del
|
|
|
|
NM_000512.5(GALNS):c.1139+2T>C
|
|
|
|
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
|
|
|
|
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)
|
rs2142995734
|
|
|
NM_000512.5(GALNS):c.1140-10C>G
|
|
|
|
NM_000512.5(GALNS):c.1140-14C>T
|
|
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
|
NM_000512.5(GALNS):c.1140-20C>T
|
|
|
|
NM_000512.5(GALNS):c.1140-5C>T
|
rs1181279151
|
|
|
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser)
|
rs200763834
|
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
|
NM_000512.5(GALNS):c.1142del (p.Pro381fs)
|
rs746086649
|
|
|
NM_000512.5(GALNS):c.1146C>T (p.Ile382=)
|
|
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
|
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser)
|
rs118204437
|
|
|
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser)
|
rs1910641750
|
|
|
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)
|
rs2143013504
|
|
|
NM_000512.5(GALNS):c.115_116del (p.Asp39fs)
|
rs1967936031
|
|
|
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_000512.5(GALNS):c.1164C>T (p.Asp388=)
|
|
|
|
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
|
|
|
|
NM_000512.5(GALNS):c.1167G>A (p.Thr389=)
|
|
|
|
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer)
|
rs2142993865
|
|
|
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)
|
rs2142993863
|
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
|
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser)
|
rs2142993851
|
|
|
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs)
|
rs2142993846
|
|
|
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro)
|
rs2142993839
|
|
|
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)
|
rs767701478
|
|
|
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro)
|
rs1227964288
|
|
|
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
|
|
|
|
NM_000512.5(GALNS):c.1188del (p.Gln397fs)
|
rs2142993827
|
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
|
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
|
|
|
|
NM_000512.5(GALNS):c.1192C>G (p.His398Asp)
|
rs1910635964
|
|
|
NM_000512.5(GALNS):c.1192del (p.His398fs)
|
rs1910636198
|
|
|
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.1196del (p.Lys399fs)
|
rs2142993816
|
|
|
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)
|
rs1967935467
|
|
|
NM_000512.5(GALNS):c.120+12C>G
|
|
|
|
NM_000512.5(GALNS):c.120+12C>T
|
|
|
|
NM_000512.5(GALNS):c.120+13G>A
|
|
|
|
NM_000512.5(GALNS):c.120+13G>C
|
|
|
|
NM_000512.5(GALNS):c.120+13G>T
|
|
|
|
NM_000512.5(GALNS):c.120+19A>C
|
|
|
|
NM_000512.5(GALNS):c.120+19_120+29del
|
|
|
|
NM_000512.5(GALNS):c.120+1G>A
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.120+1G>C
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.120+20C>T
|
|
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
|
NM_000512.5(GALNS):c.120+8C>G
|
|
|
|
NM_000512.5(GALNS):c.120+9G>T
|
|
|
|
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr)
|
rs2142993806
|
|
|
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])
|
rs1567519128
|
|
|
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)
|
rs2142993804
|
|
|
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer)
|
rs2142993802
|
|
|
NM_000512.5(GALNS):c.121-10T>C
|
|
|
|
NM_000512.5(GALNS):c.121-12T>C
|
|
|
|
NM_000512.5(GALNS):c.121-157C>T
|
|
|
|
NM_000512.5(GALNS):c.121-16G>A
|
|
|
|
NM_000512.5(GALNS):c.121-16G>C
|
|
|
|
NM_000512.5(GALNS):c.121-16G>T
|
rs113230137
|
|
|
NM_000512.5(GALNS):c.121-17C>T
|
|
|
|
NM_000512.5(GALNS):c.121-18C>A
|
|
|
|
NM_000512.5(GALNS):c.121-18C>G
|
|
|
|
NM_000512.5(GALNS):c.121-19C>T
|
|
|
|
NM_000512.5(GALNS):c.121-1G>A
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-1G>C
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-1G>T
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-202A>G
|
rs550044789
|
|
|
NM_000512.5(GALNS):c.121-20C>T
|
|
|
|
NM_000512.5(GALNS):c.121-2A>G
|
rs1567538216
|
|
|
NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA
|
|
|
|
NM_000512.5(GALNS):c.121-338_244+1del
|
|
|
|
NM_000512.5(GALNS):c.121-5T>C
|
|
|
|
NM_000512.5(GALNS):c.121-6C>T
|
|
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
|
NM_000512.5(GALNS):c.121-9T>G
|
rs2143005573
|
|
|
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro)
|
rs2142993800
|
|
|
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)
|
rs2142993795
|
|
|
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)
|
rs2142993793
|
|
|
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys)
|
rs2142993785
|
|
|
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser)
|
rs2142993782
|
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
|
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
|
rs1910631809
|
|
|
NM_000512.5(GALNS):c.1242+10T>C
|
|
|
|
NM_000512.5(GALNS):c.1242+11C>T
|
|
|
|
NM_000512.5(GALNS):c.1242+12G>A
|
|
|
|
NM_000512.5(GALNS):c.1242+12G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+13G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+17G>T
|
|
|
|
NM_000512.5(GALNS):c.1242+18T>G
|
|
|
|
NM_000512.5(GALNS):c.1242+19G>T
|
|
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+1G>T
|
rs2142993764
|
|
|
NM_000512.5(GALNS):c.1242+20G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+7G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+8G>A
|
|
|
|
NM_000512.5(GALNS):c.1243-10C>G
|
rs886052455
|
|
|
NM_000512.5(GALNS):c.1243-10C>T
|
|
|
|
NM_000512.5(GALNS):c.1243-17C>A
|
|
|
|
NM_000512.5(GALNS):c.1243-17C>T
|
|
|
|
NM_000512.5(GALNS):c.1243-1G>A
|
rs1597535277
|
|
|
NM_000512.5(GALNS):c.1243-1G>C
|
rs1597535277
|
|
|
NM_000512.5(GALNS):c.1243-2A>C
|
rs2142992422
|
|
|
NM_000512.5(GALNS):c.1243-4G>T
|
|
|
|
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val)
|
rs2142992416
|
|
|
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser)
|
rs1341980746
|
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
|
NM_000512.5(GALNS):c.1259del (p.Pro420fs)
|
rs2142992407
|
|
|
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu)
|
rs2143005560
|
|
|
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg)
|
rs2142992406
|
|
|
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)
|
rs2142992401
|
|
|
NM_000512.5(GALNS):c.1263G>A (p.Gly421=)
|
|
|
|
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys)
|
rs1295162107
|
|
|
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)
|
rs1295162107
|
|
|
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
|
|
|
|
NM_000512.5(GALNS):c.1275del (p.Val427fs)
|
rs2142992383
|
|
|
NM_000512.5(GALNS):c.1278G>A (p.Gly426=)
|
|
|
|
NM_000512.5(GALNS):c.1279del (p.Val427fs)
|
rs2142992372
|
|
|
NM_000512.5(GALNS):c.1289dup (p.His430fs)
|
|
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
|
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
|
|
|
|
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)
|
|
|
|
NM_000512.5(GALNS):c.1314G>A (p.Leu438=)
|
|
|
|
NM_000512.5(GALNS):c.1314G>C (p.Leu438=)
|
|
|
|
NM_000512.5(GALNS):c.1317C>T (p.Pro439=)
|
|
|
|
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
|
|
|
|
NM_000512.5(GALNS):c.131G>T (p.Gly44Val)
|
rs1237852382
|
|
|
NM_000512.5(GALNS):c.1329C>T (p.His443=)
|
rs1411737981
|
|
|
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
|
|
|
|
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu)
|
rs2142992321
|
|
|
NM_000512.5(GALNS):c.1335A>G (p.Gly445=)
|
rs2142992319
|
|
|
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
|
|
|
|
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
|
rs1910352262
|
|
|
NM_000512.5(GALNS):c.1347G>A (p.Gly449=)
|
rs759760397
|
|
|
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly)
|
rs2142992313
|
|
|
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val)
|
rs2142992313
|
|
|
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly)
|
rs1967040455
|
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
|
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)
|
rs398123432
|
|
|
NM_000512.5(GALNS):c.1355dup (p.Leu454fs)
|
rs1472489567
|
|
|
NM_000512.5(GALNS):c.1356C>T (p.Phe452=)
|
rs2142992304
|
|
|
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
|
|
|
|
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro)
|
rs2142992298
|
|
|
NM_000512.5(GALNS):c.1364+11G>A
|
|
|
|
NM_000512.5(GALNS):c.1364+14G>C
|
rs1400572799
|
|
|
NM_000512.5(GALNS):c.1364+15G>C
|
|
|
|
NM_000512.5(GALNS):c.1364+17C>T
|
|
|
|
NM_000512.5(GALNS):c.1364+1G>A
|
rs773746427
|
|
|
NM_000512.5(GALNS):c.1364+2_1364+15del
|
|
|
|
NM_000512.5(GALNS):c.1364+7C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-10C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-14CT[2]
|
|
|
|
NM_000512.5(GALNS):c.1365-17G>C
|
|
|
|
NM_000512.5(GALNS):c.1365-19C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-1G>A
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-1G>C
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-20C>G
|
|
|
|
NM_000512.5(GALNS):c.1365-2A>G
|
|
|
|
NM_000512.5(GALNS):c.1365-4C>G
|
rs558654277
|
|
|
NM_000512.5(GALNS):c.1365-9T>C
|
|
|
|
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
|
|
|
|
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
|
|
|
|
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
|
|
|
|
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
|
|
|
|
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg)
|
rs199638097
|
|
|
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
|
|
|
|
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
|
|
|
|
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)
|
rs2142982603
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>C (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>T (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)
|
rs118204439
|
|
|
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
|
rs1909825123
|
|
|
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
|
|
|
|
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)
|
rs1330564240
|
|
|
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
|
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)
|
rs1597524240
|
|
|
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
|
rs1909818289
|
|
|
NM_000512.5(GALNS):c.142G>A (p.Val48Met)
|
rs1377186614
|
|
|
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
|
|
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.1440C>T (p.Val480=)
|
|
|
|
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
|
|
|
|
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)
|
rs2142982313
|
|
|
NM_000512.5(GALNS):c.144G>A (p.Val48=)
|
|
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
|
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)
|
rs1482155729
|
|
|
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
|
|
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)
|
rs1273463889
|
|
|
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
|
|
|
|
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
|
|
|
|
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
|
|
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
|
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
|
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
NM_000512.5(GALNS):c.1482+1G>A
|
rs2142982054
|
|
|
NM_000512.5(GALNS):c.1482+2T>C
|
|
|
|
NM_000512.5(GALNS):c.1482+5G>A
|
rs2142982032
|
|
|
NM_000512.5(GALNS):c.1482+5G>C
|
|
|
|
NM_000512.5(GALNS):c.1482+9C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-12T>C
|
|
|
|
NM_000512.5(GALNS):c.1483-13T>G
|
|
|
|
NM_000512.5(GALNS):c.1483-17C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-19C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-2A>C
|
|
|
|
NM_000512.5(GALNS):c.1483-2A>G
|
rs2142967340
|
|
|
NM_000512.5(GALNS):c.1483-9A>G
|
|
|
|
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
|
|
|
|
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
|
|
|
|
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
|
rs1355113466
|
|
|
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg)
|
rs2143005530
|
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
|
NM_000512.5(GALNS):c.1497G>A (p.Pro499=)
|
|
|
|
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)
|
rs1303492021
|
|
|
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)
|
rs753053516
|
|
|
NM_000512.5(GALNS):c.1509G>A (p.Lys503=)
|
|
|
|
NM_000512.5(GALNS):c.1510T>C (p.Leu504=)
|
|
|
|
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
|
|
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
|
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)
|
rs1296755011
|
|
|
NM_000512.5(GALNS):c.1522C>T (p.Leu508=)
|
|
|
|
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)
|
rs2142967000
|
|
|
NM_000512.5(GALNS):c.1527A>G (p.Thr509=)
|
|
|
|
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
|
|
|
|
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_000512.5(GALNS):c.1536A>G (p.Glu512=)
|
|
|
|
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del)
|
rs2143005515
|
|
|
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)
|
rs1597515354
|
|
|
NM_000512.5(GALNS):c.1557C>G (p.Leu519=)
|
|
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
|
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)
|
rs2142966686
|
|
|
NM_000512.5(GALNS):c.1563C>A (p.Ser521=)
|
|
|
|
NM_000512.5(GALNS):c.1563C>T (p.Ser521=)
|
|
|
|
NM_000512.5(GALNS):c.1566C>T (p.His522=)
|
|
|
|
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)
|
rs1348149236
|
|
|
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)
|
rs1348149236
|
|
|
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)
|
rs2142966615
|
|
|
NM_000512.5(GALNS):c.156C>G (p.Pro52=)
|
|
|
|
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe)
|
rs1421990673
|
|
|
NM_000512.5(GALNS):c.159C>T (p.Ser53=)
|
|
|
|
NM_000512.5(GALNS):c.15C>A (p.Val5=)
|
|
|
|
NM_000512.5(GALNS):c.168C>A (p.Thr56=)
|
|
|
|
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_000512.5(GALNS):c.171G>A (p.Pro57=)
|
|
|
|
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
|
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)
|
rs145798311
|
|
|
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
|
|
|
|
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
|
|
|
|
NM_000512.5(GALNS):c.18G>T (p.Ala6=)
|
|
|
|
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile)
|
rs2143005495
|
|
|
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
|
|
|
|
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg)
|
rs1967035346
|
|
|
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)
|
rs118204445
|
|
|
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
|
|
|
|
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del)
|
rs2143005478
|
|
|
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
|
|
|
|
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
|
|
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
|
NM_000512.5(GALNS):c.21G>A (p.Ala7=)
|
|
|
|
NM_000512.5(GALNS):c.21G>C (p.Ala7=)
|
|
|
|
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe)
|
rs2143005475
|
|
|
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly)
|
rs2143005473
|
|
|
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
|
rs147599478
|
|
|
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys)
|
rs147599478
|
|
|
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser)
|
rs201278722
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
|
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
|
|
|
|
NM_000512.5(GALNS):c.234G>A (p.Leu78=)
|
|
|
|
NM_000512.5(GALNS):c.235_236del (p.Cys79fs)
|
rs2143005467
|
|
|
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)
|
rs1263679818
|
|
|
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp)
|
rs1209154325
|
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
|
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)
|
rs2143013653
|
|
|
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
|
|
|
|
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)
|
rs2143005457
|
|
|
NM_000512.5(GALNS):c.244+10C>T
|
|
|
|
NM_000512.5(GALNS):c.244+11G>A
|
|
|
|
NM_000512.5(GALNS):c.244+14G>T
|
|
|
|
NM_000512.5(GALNS):c.244+14del
|
|
|
|
NM_000512.5(GALNS):c.244+17C>T
|
|
|
|
NM_000512.5(GALNS):c.244+1G>T
|
rs2143005452
|
|
|
NM_000512.5(GALNS):c.244+8A>G
|
|
|
|
NM_000512.5(GALNS):c.244+9G>C
|
|
|
|
NM_000512.5(GALNS):c.245-10C>G
|
|
|
|
NM_000512.5(GALNS):c.245-11C>G
|
rs552476248
|
|
|
NM_000512.5(GALNS):c.245-13C>T
|
|
|
|
NM_000512.5(GALNS):c.245-15G>A
|
|
|
|
NM_000512.5(GALNS):c.245-15G>C
|
|
|
|
NM_000512.5(GALNS):c.245-17C>T
|
|
|
|
NM_000512.5(GALNS):c.245-25TTCTGT[3]
|
|
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
|
NM_000512.5(GALNS):c.245-4A>G
|
|
|
|
NM_000512.5(GALNS):c.245-5C>T
|
|
|
|
NM_000512.5(GALNS):c.245-7C>T
|
|
|
|
NM_000512.5(GALNS):c.246G>A (p.Ser82=)
|
|
|
|
NM_000512.5(GALNS):c.24G>C (p.Thr8=)
|
|
|
|
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)
|
rs141340188
|
|
|
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
|
|
|
|
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr)
|
rs2143005122
|
|
|
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro)
|
rs2143005116
|
|
|
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
|
|
|
|
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro)
|
rs1418948853
|
|
|
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile)
|
rs2143005111
|
|
|
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)
|
rs1160480473
|
|
|
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
|
|
|
|
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly)
|
rs1028668536
|
|
|
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro)
|
rs2143005099
|
|
|
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser)
|
rs2143005097
|
|
|
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr)
|
rs1966993165
|
|
|
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)
|
rs118204441
|
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
|
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
|
|
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
|
NM_000512.5(GALNS):c.287G>T (p.Gly96Val)
|
rs1966992597
|
|
|
NM_000512.5(GALNS):c.288C>G (p.Gly96=)
|
|
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
|
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
|
|
|
|
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile)
|
rs2143005081
|
|
|
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro)
|
rs1597581827
|
|
|
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)
|
rs1967945316
|
|
|
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
|
|
|
|
NM_000512.5(GALNS):c.309T>C (p.His103=)
|
|
|
|
NM_000512.5(GALNS):c.312C>G (p.Ala104=)
|
rs1293637427
|
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
|
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser)
|
rs2143005070
|
|
|
NM_000512.5(GALNS):c.319+10_319+11dup
|
|
|
|
NM_000512.5(GALNS):c.319+14C>T
|
|
|
|
NM_000512.5(GALNS):c.319+15G>A
|
|
|
|
NM_000512.5(GALNS):c.319+15G>T
|
rs777179922
|
|
|
NM_000512.5(GALNS):c.319+16C>T
|
|
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
|
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro)
|
rs763184657
|
|
|
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser)
|
rs763184657
|
|
|
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
|
|
|
|
NM_000512.5(GALNS):c.320-14C>T
|
|
|
|
NM_000512.5(GALNS):c.320-18C>T
|
|
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
|
NM_000512.5(GALNS):c.320-7C>T
|
|
|
|
NM_000512.5(GALNS):c.320-9C>T
|
|
|
|
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys)
|
rs1256041500
|
|
|
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile)
|
rs2143004681
|
|
|
NM_000512.5(GALNS):c.330G>T (p.Pro110=)
|
|
|
|
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg)
|
rs2143004671
|
|
|
NM_000512.5(GALNS):c.334del (p.Glu112fs)
|
rs2143004665
|
|
|
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
|
|
|
|
NM_000512.5(GALNS):c.339T>C (p.Ile113=)
|
|
|
|
NM_000512.5(GALNS):c.345C>T (p.Gly115=)
|
|
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
|
NM_000512.5(GALNS):c.348C>T (p.Gly116=)
|
|
|
|
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)
|
rs911452920
|
|
|
NM_000512.5(GALNS):c.363G>A (p.Glu121=)
|
|
|
|
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp)
|
rs780986116
|
|
|
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
|
|
|
|
NM_000512.5(GALNS):c.370C>T (p.Leu124=)
|
|
|
|
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
|
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.374del (p.Pro125fs)
|
|
|
|
NM_000512.5(GALNS):c.375G>A (p.Pro125=)
|
|
|
|
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln)
|
rs1177468816
|
|
|
NM_000512.5(GALNS):c.378G>A (p.Glu126=)
|
|
|
|
NM_000512.5(GALNS):c.384G>A (p.Leu128=)
|
|
|
|
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)
|
rs2143004624
|
|
|
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
|
|
|
|
NM_000512.5(GALNS):c.387G>A (p.Lys129=)
|
|
|
|
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser)
|
rs1379268067
|
|
|
NM_000512.5(GALNS):c.3G>A (p.Met1Ile)
|
rs2143013681
|
|
|
NM_000512.5(GALNS):c.400G>A (p.Val134Ile)
|
rs886052457
|
|
|
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg)
|
rs2143004605
|
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
|
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del)
|
rs2143004592
|
|
|
NM_000512.5(GALNS):c.409_422+5del
|
rs2143004580
|
|
|
NM_000512.5(GALNS):c.411T>C (p.Ile137=)
|
|
|
|
NM_000512.5(GALNS):c.414C>G (p.Val138=)
|
|
|
|
NM_000512.5(GALNS):c.414C>T (p.Val138=)
|
|
|
|
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp)
|
rs2143004596
|
|
|
NM_000512.5(GALNS):c.417C>G (p.Gly139=)
|
|
|
|
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
|
|
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
|
NM_000512.5(GALNS):c.422+10C>T
|
|
|
|
NM_000512.5(GALNS):c.422+14C>T
|
|
|
|
NM_000512.5(GALNS):c.422+18G>A
|
|
|
|
NM_000512.5(GALNS):c.422+19C>G
|
|
|
|
NM_000512.5(GALNS):c.422+1G>A
|
rs1966940003
|
|
|
NM_000512.5(GALNS):c.422+1G>T
|
rs1966940003
|
|
|
NM_000512.5(GALNS):c.422+20C>T
|
|
|
|
NM_000512.5(GALNS):c.422+2T>G
|
rs2143004585
|
|
|
NM_000512.5(GALNS):c.422+2_422+8del
|
rs764529662
|
|
|
NM_000512.5(GALNS):c.422+2dup
|
rs2143004586
|
|
|
NM_000512.5(GALNS):c.422+9C>G
|
|
|
|
NM_000512.5(GALNS):c.423-11_425del
|
|
|
|
NM_000512.5(GALNS):c.423-14G>A
|
|
|
|
NM_000512.5(GALNS):c.423-15G>C
|
|
|
|
NM_000512.5(GALNS):c.423-16G>A
|
|
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
|
NM_000512.5(GALNS):c.423-20T>C
|
|
|
|
NM_000512.5(GALNS):c.423-4C>T
|
|
|
|
NM_000512.5(GALNS):c.423-5del
|
|
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
|
NM_000512.5(GALNS):c.423-8G>A
|
|
|
|
NM_000512.5(GALNS):c.423-8G>C
|
rs111613055
|
|
|
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys)
|
rs2143002473
|
|
|
NM_000512.5(GALNS):c.424C>A (p.His142Asn)
|
rs2143002472
|
|
|
NM_000512.5(GALNS):c.424_566+1del
|
rs2143002309
|
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
|
NM_000512.5(GALNS):c.42G>A (p.Leu14=)
|
|
|
|
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)
|
rs577334837
|
|
|
NM_000512.5(GALNS):c.43C>A (p.Leu15Met)
|
rs866745731
|
|
|
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)
|
rs2143002464
|
|
|
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del)
|
rs2143002451
|
|
|
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys)
|
rs2143002458
|
|
|
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
|
|
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
|
NM_000512.5(GALNS):c.450C>T (p.His150=)
|
|
|
|
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser)
|
rs781439830
|
|
|
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg)
|
rs559063128
|
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
|
NM_000512.5(GALNS):c.45G>A (p.Leu15=)
|
|
|
|
NM_000512.5(GALNS):c.462C>T (p.His154=)
|
|
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
|
NM_000512.5(GALNS):c.465A>G (p.Gly155=)
|
|
|
|
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser)
|
rs1301146300
|
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
|
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
|
|
|
|
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
|
|
|
|
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)
|
rs2143002428
|
|
|
NM_000512.5(GALNS):c.473_477del (p.Glu158fs)
|
rs2143002427
|
|
|
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys)
|
rs398123439
|
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
|
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
|
|
|
|
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu)
|
rs2143002420
|
|
|
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
|
|
|
|
NM_000512.5(GALNS):c.488C>A (p.Pro163His)
|
rs2143002411
|
|
|
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
|
|
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
|
|
|
|
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)
|
rs768757999
|
|
|
NM_000512.5(GALNS):c.497A>G (p.His166Arg)
|
rs2143002394
|
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
|
NM_000512.5(GALNS):c.501dup (p.Gly168fs)
|
rs2143002383
|
|
|
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)
|
rs775732598
|
|
|
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu)
|
rs2143002376
|
|
|
NM_000512.5(GALNS):c.503G>T (p.Gly168Val)
|
rs2143002375
|
|
|
NM_000512.5(GALNS):c.508T>C (p.Tyr170His)
|
rs2143002372
|
|
|
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
|
|
|
|
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala)
|
rs2143002367
|
|
|
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
|
|
|
|
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
|
|
|
|
NM_000512.5(GALNS):c.529A>C (p.Asn177His)
|
rs2143002349
|
|
|
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser)
|
rs2143002347
|
|
|
NM_000512.5(GALNS):c.532_533del (p.Ile178fs)
|
rs2143002345
|
|
|
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser)
|
rs2143002341
|
|
|
NM_000512.5(GALNS):c.536C>A (p.Pro179His)
|
rs1912278519
|
|
|
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu)
|
rs1912278519
|
|
|
NM_000512.5(GALNS):c.540G>A (p.Val180=)
|
|
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
|
NM_000512.5(GALNS):c.544A>C (p.Arg182=)
|
|
|
|
NM_000512.5(GALNS):c.546G>A (p.Arg182=)
|
|
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
|
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
|
|
|
|
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly)
|
rs2143002324
|
|
|
NM_000512.5(GALNS):c.554del (p.Glu185fs)
|
rs2143002326
|
|
|
NM_000512.5(GALNS):c.555G>A (p.Glu185=)
|
|
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
|
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp)
|
rs2143002315
|
|
|
NM_000512.5(GALNS):c.566+11C>T
|
|
|
|
NM_000512.5(GALNS):c.566+12C>T
|
|
|
|
NM_000512.5(GALNS):c.566+13C>T
|
|
|
|
NM_000512.5(GALNS):c.566+16C>G
|
|
|
|
NM_000512.5(GALNS):c.566+16C>T
|
|
|
|
NM_000512.5(GALNS):c.566+17C>T
|
|
|
|
NM_000512.5(GALNS):c.566+1G>A
|
|
|
|
NM_000512.5(GALNS):c.566+6G>A
|
rs1912274502
|
|
|
NM_000512.5(GALNS):c.566+9G>A
|
|
|
|
NM_000512.5(GALNS):c.567-13G>A
|
|
|
|
NM_000512.5(GALNS):c.567-14T>C
|
|
|
|
NM_000512.5(GALNS):c.567-14T>G
|
|
|
|
NM_000512.5(GALNS):c.567-15C>T
|
|
|
|
NM_000512.5(GALNS):c.567-17A>G
|
|
|
|
NM_000512.5(GALNS):c.567-1G>T
|
rs143428106
|
|
|
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)
|
rs886042058
|
|
|
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
|
|
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
|
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys)
|
rs2143001742
|
|
|
NM_000512.5(GALNS):c.573T>C (p.Tyr191=)
|
|
|
|
NM_000512.5(GALNS):c.579A>G (p.Glu193=)
|
|
|
|
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn)
|
rs759502513
|
|
|
NM_000512.5(GALNS):c.592C>T (p.Leu198=)
|
|
|
|
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
|
rs1293689169
|
|
|
NM_000512.5(GALNS):c.600G>A (p.Thr200=)
|
|
|
|
NM_000512.5(GALNS):c.600G>T (p.Thr200=)
|
|
|
|
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
|
|
|
|
NM_000512.5(GALNS):c.604del (p.Glu202fs)
|
rs1382823339
|
|
|
NM_000512.5(GALNS):c.608C>T (p.Ala203Val)
|
rs2143001722
|
|
|
NM_000512.5(GALNS):c.609C>A (p.Ala203=)
|
|
|
|
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
|
|
|
|
NM_000512.5(GALNS):c.60G>A (p.Ala20=)
|
|
|
|
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)
|
rs569725936
|
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
|
NM_000512.5(GALNS):c.612C>T (p.Asn204=)
|
|
|
|
NM_000512.5(GALNS):c.615C>A (p.Leu205=)
|
|
|
|
NM_000512.5(GALNS):c.618C>T (p.Thr206=)
|
|
|
|
NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)
|
rs2143001706
|
|
|
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)
|
rs1912124497
|
|
|
NM_000512.5(GALNS):c.633+13G>A
|
|
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
|
NM_000512.5(GALNS):c.633+13G>T
|
|
|
|
NM_000512.5(GALNS):c.633+13dup
|
|
|
|
NM_000512.5(GALNS):c.633+15A>G
|
|
|
|
NM_000512.5(GALNS):c.633+16C>T
|
|
|
|
NM_000512.5(GALNS):c.633+9del
|
|
|
|
NM_000512.5(GALNS):c.634-14G>T
|
|
|
|
NM_000512.5(GALNS):c.634-1G>A
|
rs2143001463
|
|
|
NM_000512.5(GALNS):c.634-1G>T
|
rs2143001463
|
|
|
NM_000512.5(GALNS):c.634-5C>G
|
rs1354095513
|
|
|
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
|
|
|
|
NM_000512.5(GALNS):c.63G>T (p.Gly21=)
|
|
|
|
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
|
|
|
|
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)
|
rs2143001453
|
|
|
NM_000512.5(GALNS):c.654G>A (p.Lys218=)
|
|
|
|
NM_000512.5(GALNS):c.657A>G (p.Arg219=)
|
|
|
|
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)
|
rs1456807949
|
|
|
NM_000512.5(GALNS):c.666G>A (p.Arg222=)
|
|
|
|
NM_000512.5(GALNS):c.672C>T (p.His224=)
|
|
|
|
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)
|
rs2143001422
|
|
|
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
|
|
|
|
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu)
|
rs1375452799
|
|
|
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
|
|
|
|
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
|
rs2143001417
|
|
|
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)
|
rs2143013593
|
|
|
NM_000512.5(GALNS):c.680del (p.Phe227fs)
|
rs2143001415
|
|
|
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
|
|
|
|
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
|
|
|
|
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser)
|
rs554190546
|
|
|
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly)
|
rs2143001411
|
|
|
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
|
rs118204449
|
|
|
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys)
|
rs2143001410
|
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
|
NM_000512.5(GALNS):c.693T>C (p.Ala231=)
|
|
|
|
NM_000512.5(GALNS):c.696C>T (p.Val232=)
|
|
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
|
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
|
|
|
|
NM_000512.5(GALNS):c.702C>T (p.Ala234=)
|
|
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
|
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
|
|
|
|
NM_000512.5(GALNS):c.705G>A (p.Thr235=)
|
|
|
|
NM_000512.5(GALNS):c.705G>T (p.Thr235=)
|
|
|
|
NM_000512.5(GALNS):c.706C>G (p.His236Asp)
|
rs1228027865
|
|
|
NM_000512.5(GALNS):c.707A>C (p.His236Pro)
|
rs398123441
|
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
|
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
|
|
|
|
NM_000512.5(GALNS):c.708del (p.His236fs)
|
rs2143001400
|
|
|
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
|
rs2143001391
|
|
|
NM_000512.5(GALNS):c.714C>G (p.Pro238=)
|
|
|
|
NM_000512.5(GALNS):c.714C>T (p.Pro238=)
|
|
|
|
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)
|
rs145131011
|
|
|
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
|
|
|
|
NM_000512.5(GALNS):c.717C>A (p.Val239=)
|
|
|
|
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp)
|
rs2143001386
|
|
|
NM_000512.5(GALNS):c.723C>G (p.Ala241=)
|
|
|
|
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)
|
rs2143001380
|
|
|
NM_000512.5(GALNS):c.732C>G (p.Pro244=)
|
|
|
|
NM_000512.5(GALNS):c.744C>G (p.Thr248=)
|
|
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
|
NM_000512.5(GALNS):c.753A>T (p.Arg251=)
|
|
|
|
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
|
|
|
|
NM_000512.5(GALNS):c.758+12C>A
|
|
|
|
NM_000512.5(GALNS):c.758+15C>T
|
|
|
|
NM_000512.5(GALNS):c.758+17T>C
|
|
|
|
NM_000512.5(GALNS):c.758+1G>A
|
rs1363382746
|
|
|
NM_000512.5(GALNS):c.758+1G>C
|
rs1363382746
|
|
|
NM_000512.5(GALNS):c.758+3G>A
|
|
|
|
NM_000512.5(GALNS):c.758+4A>T
|
rs2143001351
|
|
|
NM_000512.5(GALNS):c.758+7C>T
|
|
|
|
NM_000512.5(GALNS):c.759-15G>C
|
|
|
|
NM_000512.5(GALNS):c.759-16del
|
|
|
|
NM_000512.5(GALNS):c.759-2A>G
|
rs2143001213
|
|
|
NM_000512.5(GALNS):c.759-7C>A
|
|
|
|
NM_000512.5(GALNS):c.75G>C (p.Ser25=)
|
|
|
|
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)
|
rs2143001210
|
|
|
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)
|
rs770815269
|
|
|
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
|
|
|
|
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
|
rs1912009292
|
|
|
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
|
|
|
|
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly)
|
rs61742258
|
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
|
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
|
|
|
|
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys)
|
rs2143001194
|
|
|
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)
|
|
|
|
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
|
rs1210023208
|
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
|
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp)
|
rs2143001191
|
|
|
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
|
|
|
|
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)
|
rs2143001182
|
|
|
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr)
|
rs2143001182
|
|
|
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro)
|
rs1912001607
|
|
|
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)
|
rs2143001165
|
|
|
NM_000512.5(GALNS):c.81C>T (p.Ala27=)
|
|
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
|
NM_000512.5(GALNS):c.828C>G (p.His276Gln)
|
rs759216815
|
|
|
NM_000512.5(GALNS):c.831C>T (p.Val277=)
|
|
|
|
NM_000512.5(GALNS):c.834G>A (p.Ala278=)
|
|
|
|
NM_000512.5(GALNS):c.835del (p.Asp279fs)
|
|
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
|
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)
|
rs1567530426
|
|
|
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
|
|
|
|
NM_000512.5(GALNS):c.84G>C (p.Pro28=)
|
|
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
|
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
|
|
|
|
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)
|
rs1287332192
|
|
|
NM_000512.5(GALNS):c.861G>A (p.Ser287=)
|
|
|
|
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly)
|
rs2143001134
|
|
|
NM_000512.5(GALNS):c.863del (p.Asp288fs)
|
rs2143001135
|
|
|
NM_000512.5(GALNS):c.865A>C (p.Asn289His)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
|
NM_000512.5(GALNS):c.867C>T (p.Asn289=)
|
|
|
|
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg)
|
rs975409254
|
|
|
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp)
|
rs1214775986
|
|
|
NM_000512.5(GALNS):c.870C>T (p.Gly290=)
|
|
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
|
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp)
|
rs2143001123
|
|
|
NM_000512.5(GALNS):c.874del (p.Ala292fs)
|
rs2143001121
|
|
|
NM_000512.5(GALNS):c.87G>A (p.Gln29=)
|
|
|
|
NM_000512.5(GALNS):c.882T>A (p.Ile294=)
|
|
|
|
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_000512.5(GALNS):c.888C>T (p.Ala296=)
|
|
|
|
NM_000512.5(GALNS):c.891C>T (p.Pro297=)
|
|
|
|
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)
|
rs767319971
|
|
|
NM_000512.5(GALNS):c.892del (p.Glu298fs)
|
|
|
|
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)
|
rs2143001103
|
|
|
NM_000512.5(GALNS):c.898+11G>A
|
|
|
|
NM_000512.5(GALNS):c.898+12C>A
|
|
|
|
NM_000512.5(GALNS):c.898+13T>C
|
|
|
|
NM_000512.5(GALNS):c.898+2T>A
|
|
|
|
NM_000512.5(GALNS):c.898+7G>A
|
|
|
|
NM_000512.5(GALNS):c.898+8C>T
|
|
|
|
NM_000512.5(GALNS):c.899-12C>T
|
|
|
|
NM_000512.5(GALNS):c.899-14C>A
|
rs771269427
|
|
|
NM_000512.5(GALNS):c.899-167A>G
|
rs2142999330
|
|
|
NM_000512.5(GALNS):c.899-169_899-166del
|
|
|
|
NM_000512.5(GALNS):c.899-19A>T
|
|
|
|
NM_000512.5(GALNS):c.899-20C>T
|
|
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
|
NM_000512.5(GALNS):c.899-397_1003-1862del
|
|
|
|
NM_000512.5(GALNS):c.899-5C>T
|
|
|
|
NM_000512.5(GALNS):c.899-9C>G
|
|
|
|
NM_000512.5(GALNS):c.899G>T (p.Gly300Val)
|
rs780778562
|
|
|
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
|
rs1298604798
|
|
|
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)
|
rs776715466
|
|
|
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)
|
rs751446283
|
|
|
NM_000512.5(GALNS):c.90C>G (p.Pro30=)
|
rs1967938638
|
|
|
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)
|
rs758439379
|
|
|
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
|
|
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
|
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)
|
rs759590432
|
|
|
NM_000512.5(GALNS):c.919C>A (p.Leu307Met)
|
rs2142999203
|
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
|
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg)
|
rs2142999197
|
|
|
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp)
|
rs1567526988
|
|
|
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg)
|
rs2142999191
|
|
|
NM_000512.5(GALNS):c.927G>A (p.Gly309=)
|
|
|
|
NM_000512.5(GALNS):c.930G>A (p.Lys310=)
|
|
|
|
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)
|
rs377285422
|
|
|
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)
|
rs2142999186
|
|
|
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)
|
rs2142999186
|
|
|
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala)
|
rs2142999184
|
|
|
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
|
|
|
|
NM_000512.5(GALNS):c.93del (p.Asn32fs)
|
|
|
|
NM_000512.5(GALNS):c.940T>G (p.Phe314Val)
|
rs774781295
|
|
|
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys)
|
rs2142999177
|
|
|
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln)
|
rs2142999177
|
|
|
NM_000512.5(GALNS):c.947G>T (p.Gly316Val)
|
rs1057518404
|
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|
|
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)
|
rs2143013538
|
|
|
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)
|
rs2142999169
|
|
|
NM_000512.5(GALNS):c.951dup (p.Met318fs)
|
rs2142999166
|
|
|
NM_000512.5(GALNS):c.952A>G (p.Met318Val)
|
rs537013895
|
|
|
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr)
|
rs377744312
|
|
|
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys)
|
rs2142999156
|
|
|
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)
|
rs773933657
|
|
|
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp)
|
rs1213435795
|
|
|
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)
|
rs1597559500
|
|
|
NM_000512.5(GALNS):c.969C>G (p.Leu323=)
|
|
|
|
NM_000512.5(GALNS):c.96C>T (p.Asn32=)
|
|
|
|
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser)
|
rs569725890
|
|
|
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu)
|
rs2142999148
|
|
|
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
|
|
|
|
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del)
|
rs2142999135
|
|
|
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter)
|
rs2142999142
|
|
|
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys)
|
rs1269110043
|
|
|
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
|
|
|
|
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser)
|
rs2142999137
|
|
|
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)
|
rs1911558912
|
|
|
NM_000512.5(GALNS):c.984G>A (p.Gly328=)
|
|
|
|
NM_000512.5(GALNS):c.985C>A (p.His329Asn)
|
rs766548318
|
|
|
NM_000512.5(GALNS):c.9G>T (p.Ala3=)
|
|
|
|
NM_000512.5(GALNS):c.[1097T>C;451C>A]
|
|
|
|
NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]
|
|
|
|
NM_000512.5:c.(120+1_121-1)_(244+1_245-1)del
|
|
|
|
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
|
|
|
|
NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del
|
|
|
|
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del
|
|
|
|
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
|
|
|
|
NM_000512.5:c.567_1002dup
|
|
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
|
NM_000525.4(KCNJ11):c.*1037G>T
|
rs767140617
|
|
|
NM_000525.4(KCNJ11):c.*1415G>A
|
rs955060881
|
|
|
NM_000525.4(KCNJ11):c.*1415G>C
|
rs955060881
|
|
|
NM_000525.4(KCNJ11):c.*50G>A
|
rs886048041
|
|
|
NM_000525.4(KCNJ11):c.*62G>A
|
rs5213
|
|
|
NM_000525.4(KCNJ11):c.*678C>T
|
rs886048036
|
|
|
NM_000525.4(KCNJ11):c.*732C>T
|
rs886048035
|
|
|
NM_000525.4(KCNJ11):c.*826_*827dup
|
rs886048034
|
|
|
NM_000525.4(KCNJ11):c.*842C>G
|
rs1591693562
|
|
|
NM_000525.4(KCNJ11):c.*937C>T
|
rs886048033
|
|
|
NM_000525.4(KCNJ11):c.*99C>G
|
rs886048040
|
|
|
NM_000525.4(KCNJ11):c.-134G>T
|
rs387906398
|
|
|
NM_000525.4(KCNJ11):c.-135_-134insCT
|
rs1554901983
|
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
|
NM_000525.4(KCNJ11):c.-154G>A
|
rs539975714
|
|
|
NM_000525.4(KCNJ11):c.-424C>T
|
rs1953601577
|
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
|
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)
|
rs193929358
|
|
|
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)
|
rs1564864998
|
|
|
NM_000525.4(KCNJ11):c.1017G>A (p.Val339=)
|
rs770408379
|
|
|
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)
|
rs193929333
|
|
|
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val)
|
rs193929333
|
|
|
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
|
|
|
|
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
|
|
|
|
NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=)
|
rs1591694628
|
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
|
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)
|
rs1953567712
|
|
|
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
|
|
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
|
NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln)
|
rs80356611
|
|
|
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)
|
rs80356611
|
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
|
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg)
|
rs193929337
|
|
|
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)
|
rs1953591194
|
|
|
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)
|
rs80356613
|
|
|
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)
|
rs80356615
|
|
|
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
|
|
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
|
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly)
|
rs80356617
|
|
|
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr)
|
rs387906783
|
|
|
NM_000525.4(KCNJ11):c.238del (p.Leu80fs)
|
rs1953589834
|
|
|
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn)
|
rs1564865688
|
|
|
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)
|
rs1554901866
|
|
|
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys)
|
rs587783667
|
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
|
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg)
|
rs376773562
|
|
|
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=)
|
rs376773562
|
|
|
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro)
|
rs1953587696
|
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
|
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)
|
rs1591695840
|
|
|
NM_000525.4(KCNJ11):c.368dup (p.Ser124fs)
|
rs1554901822
|
|
|
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)
|
rs104894236
|
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
|
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)
|
rs28936678
|
|
|
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)
|
rs1404429785
|
|
|
NM_000525.4(KCNJ11):c.472A>G (p.Met158Val)
|
rs1953585385
|
|
|
NM_000525.4(KCNJ11):c.490C>A (p.Leu164Ile)
|
rs1554901796
|
|
|
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr)
|
rs80356618
|
|
|
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)
|
rs80356618
|
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
|
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)
|
rs80356620
|
|
|
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=)
|
rs1287370462
|
|
|
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg)
|
rs80356621
|
|
|
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)
|
rs80356622
|
|
|
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)
|
rs865963367
|
|
|
NM_000525.4(KCNJ11):c.525C>T (p.His175=)
|
rs865963367
|
|
|
NM_000525.4(KCNJ11):c.532del (p.Ala178fs)
|
rs1554901775
|
|
|
NM_000525.4(KCNJ11):c.539C>A (p.Thr180Asn)
|
rs1953584002
|
|
|
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe)
|
rs1564865434
|
|
|
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val)
|
rs193929348
|
|
|
NM_000525.4(KCNJ11):c.558T>C (p.His186=)
|
rs1953583830
|
|
|
NM_000525.4(KCNJ11):c.581GCC[1] (p.Arg195del)
|
rs886042779
|
|
|
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
|
rs193922565
|
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
|
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu)
|
rs80356624
|
|
|
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
|
rs1554901747
|
|
|
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)
|
rs1554901747
|
|
|
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
|
|
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
|
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
|
|
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
|
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys)
|
rs587783673
|
|
|
NM_000525.4(KCNJ11):c.697C>T (p.Leu233Phe)
|
rs1564865302
|
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
|
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)
|
rs886048042
|
|
|
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala)
|
rs193929352
|
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
|
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
|
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)
|
rs1554901679
|
|
|
NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly)
|
rs794726888
|
|
|
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)
|
rs1554901658
|
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
|
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu)
|
rs193929353
|
|
|
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val)
|
rs193929353
|
|
|
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
|
rs1953574433
|
|
|
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)
|
rs377091338
|
|
|
NM_000525.4(KCNJ11):c.905C>A (p.Thr302Asn)
|
rs761575495
|
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
|
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)
|
rs1554901596
|
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
|
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr)
|
rs1554901583
|
|
|
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)
|
rs587783675
|
|
|
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
|
rs193929356
|
|
|
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)
|
rs193929357
|
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
|
NM_000528.4(MAN2B1):c.*100T>G
|
rs886054227
|
|
|
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe)
|
rs2145272792
|
|
|
NM_000528.4(MAN2B1):c.1005C>T (p.Leu335=)
|
|
|
|
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
|
|
|
|
NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1012C>T (p.Leu338=)
|
|
|
|
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=)
|
rs755616565
|
|
|
NM_000528.4(MAN2B1):c.1026+10C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1026+13A>C
|
|
|
|
NM_000528.4(MAN2B1):c.1026+14C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1026+15C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1026+17T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1026+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1026+2T>C
|
rs369099686
|
|
|
NM_000528.4(MAN2B1):c.1027-12C>G
|
rs762668361
|
|
|
NM_000528.4(MAN2B1):c.1027-14G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1027-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1027-17G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1027-18C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1027-19C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1027-1G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1027-20T>C
|
rs754654189
|
|
|
NM_000528.4(MAN2B1):c.1027-2A>C
|
|
|
|
NM_000528.4(MAN2B1):c.1027-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1027-6del
|
rs1384911711
|
|
|
NM_000528.4(MAN2B1):c.1027-7C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1027-7C>T
|
rs1454372793
|
|
|
NM_000528.4(MAN2B1):c.1027-9C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro)
|
rs2145262302
|
|
|
NM_000528.4(MAN2B1):c.1032A>G (p.Ala344=)
|
rs1386894008
|
|
|
NM_000528.4(MAN2B1):c.1035A>G (p.Lys345=)
|
|
|
|
NM_000528.4(MAN2B1):c.103_106del (p.Leu35fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1047C>T (p.Val349=)
|
|
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
|
NM_000528.4(MAN2B1):c.1059C>T (p.Tyr353=)
|
rs200323310
|
|
|
NM_000528.4(MAN2B1):c.105C>G (p.Leu35=)
|
|
|
|
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
|
rs2024251717
|
|
|
NM_000528.4(MAN2B1):c.1062C>T (p.Ser354=)
|
rs2145262172
|
|
|
NM_000528.4(MAN2B1):c.1065C>G (p.Thr355=)
|
|
|
|
NM_000528.4(MAN2B1):c.1066C>G (p.Pro356Ala)
|
rs2145262130
|
|
|
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=)
|
rs117880912
|
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
|
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
|
rs2024028589
|
|
|
NM_000528.4(MAN2B1):c.1071T>C (p.Ala357=)
|
|
|
|
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val)
|
rs2145262015
|
|
|
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
|
rs2145261994
|
|
|
NM_000528.4(MAN2B1):c.1087C>G (p.Leu363Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=)
|
rs372217078
|
|
|
NM_000528.4(MAN2B1):c.1104C>G (p.Leu368=)
|
|
|
|
NM_000528.4(MAN2B1):c.1104C>T (p.Leu368=)
|
|
|
|
NM_000528.4(MAN2B1):c.1109+13A>C
|
|
|
|
NM_000528.4(MAN2B1):c.1109+1G>C
|
rs2024027294
|
|
|
NM_000528.4(MAN2B1):c.1109+20A>T
|
|
|
|
NM_000528.4(MAN2B1):c.1109+8G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)
|
rs786204715
|
|
|
NM_000528.4(MAN2B1):c.1110-10G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1110-13C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1110-15C>G
|
rs202085731
|
|
|
NM_000528.4(MAN2B1):c.1110-17T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1110-17dup
|
|
|
|
NM_000528.4(MAN2B1):c.1110-18A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1110-1G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1110-1G>T
|
rs1599352199
|
|
|
NM_000528.4(MAN2B1):c.1110-4G>A
|
rs758041910
|
|
|
NM_000528.4(MAN2B1):c.1110-4G>T
|
rs758041910
|
|
|
NM_000528.4(MAN2B1):c.1110-5T>G
|
|
|
|
NM_000528.4(MAN2B1):c.1110dup
|
|
|
|
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)
|
rs886054231
|
|
|
NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=)
|
rs756124107
|
|
|
NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)
|
rs767768982
|
|
|
NM_000528.4(MAN2B1):c.1140C>T (p.Tyr380=)
|
rs767768982
|
|
|
NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1148del (p.Gly383fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1149C>T (p.Gly383=)
|
|
|
|
NM_000528.4(MAN2B1):c.114C>T (p.Phe38=)
|
rs2024251453
|
|
|
NM_000528.4(MAN2B1):c.1155C>T (p.His385=)
|
rs2145261164
|
|
|
NM_000528.4(MAN2B1):c.1156C>T (p.Gln386Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)
|
rs1057516524
|
|
|
NM_000528.4(MAN2B1):c.1164G>A (p.Trp388Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1167C>G (p.Thr389=)
|
|
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
|
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys)
|
rs864621982
|
|
|
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
|
rs1479309756
|
|
|
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=)
|
rs745391577
|
|
|
NM_000528.4(MAN2B1):c.1188G>C (p.Pro396=)
|
rs749011134
|
|
|
NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)
|
rs753695099
|
|
|
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His)
|
|
|
|
NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)
|
rs781291011
|
|
|
NM_000528.4(MAN2B1):c.1203C>T (p.Tyr401=)
|
|
|
|
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.1204G>T (p.Glu402Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=)
|
rs1221988260
|
|
|
NM_000528.4(MAN2B1):c.1209C>T (p.Arg403=)
|
rs559827776
|
|
|
NM_000528.4(MAN2B1):c.121T>C (p.Leu41=)
|
|
|
|
NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
|
rs2024020274
|
|
|
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
|
rs2024019978
|
|
|
NM_000528.4(MAN2B1):c.1230+13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1230+14G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1230+15G>A
|
rs2024019027
|
|
|
NM_000528.4(MAN2B1):c.1230+16G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1230+17C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1230+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1230+20G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1230+3G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1230+7A>G
|
rs2024019411
|
|
|
NM_000528.4(MAN2B1):c.1230+8G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
|
NM_000528.4(MAN2B1):c.1231-17T>A
|
|
|
|
NM_000528.4(MAN2B1):c.1231-5T>A
|
rs1419185296
|
|
|
NM_000528.4(MAN2B1):c.1231-5T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1231-5_1231-4dup
|
rs2145260260
|
|
|
NM_000528.4(MAN2B1):c.1231-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1231-7C>T
|
rs2145260291
|
|
|
NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1248G>A (p.Glu416=)
|
|
|
|
NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1251G>A (p.Ala417=)
|
rs1055070863
|
|
|
NM_000528.4(MAN2B1):c.1252C>T (p.Leu418=)
|
rs2145260099
|
|
|
NM_000528.4(MAN2B1):c.1259G>A (p.Gly420Asp)
|
rs772853856
|
|
|
NM_000528.4(MAN2B1):c.1263G>A (p.Leu421=)
|
|
|
|
NM_000528.4(MAN2B1):c.1269C>T (p.Ala423=)
|
rs2145260034
|
|
|
NM_000528.4(MAN2B1):c.1271A>G (p.Asn424Ser)
|
rs1322106502
|
|
|
NM_000528.4(MAN2B1):c.1272C>T (p.Asn424=)
|
rs768711346
|
|
|
NM_000528.4(MAN2B1):c.1278A>T (p.Gly426=)
|
rs950266158
|
|
|
NM_000528.4(MAN2B1):c.1278del (p.Tyr428fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
|
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
|
rs2024014272
|
|
|
NM_000528.4(MAN2B1):c.1287C>T (p.Gly429=)
|
|
|
|
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
|
rs867517934
|
|
|
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1302A>C (p.Ala434=)
|
rs2145259880
|
|
|
NM_000528.4(MAN2B1):c.1308_1309+2del
|
rs1555708282
|
|
|
NM_000528.4(MAN2B1):c.1309+11G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1309+14C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1309+18G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1309+1G>T
|
rs1057516745
|
|
|
NM_000528.4(MAN2B1):c.1309+7G>A
|
rs2145259814
|
|
|
NM_000528.4(MAN2B1):c.1309+7G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1309+7del
|
|
|
|
NM_000528.4(MAN2B1):c.1309+8T>G
|
|
|
|
NM_000528.4(MAN2B1):c.1310-12G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1310-14T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1310-16C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1310-1G>A
|
rs1555708156
|
|
|
NM_000528.4(MAN2B1):c.1310-2A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1310-4G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1310-7T>C
|
rs2145257269
|
|
|
NM_000528.4(MAN2B1):c.1310-8A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1310A>G (p.Asn437Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.131del (p.Ala44fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1323T>C (p.Ala441=)
|
|
|
|
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr)
|
rs864621983
|
|
|
NM_000528.4(MAN2B1):c.1335T>C (p.His445=)
|
|
|
|
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)
|
|
|
|
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
|
rs2145256864
|
|
|
NM_000528.4(MAN2B1):c.1356C>T (p.Thr452=)
|
rs1160056496
|
|
|
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr)
|
rs864621984
|
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
|
NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)
|
|
|
|
NM_000528.4(MAN2B1):c.135C>G (p.Ala45=)
|
rs200413076
|
|
|
NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)
|
rs2145256884
|
|
|
NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)
|
rs2023996617
|
|
|
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)
|
rs864621985
|
|
|
NM_000528.4(MAN2B1):c.1371G>A (p.Val457=)
|
rs1160690876
|
|
|
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
|
|
|
|
NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)
|
|
|
|
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
|
NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)
|
|
|
|
NM_000528.4(MAN2B1):c.1386G>C (p.Ala462=)
|
rs1485268011
|
|
|
NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=)
|
rs1485268011
|
|
|
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
|
rs771647137
|
|
|
NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)
|
|
|
|
NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)
|
rs1555708126
|
|
|
NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)
|
|
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.1398G>C (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
|
NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)
|
|
|
|
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)
|
rs1599350640
|
|
|
NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)
|
rs2023994563
|
|
|
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)
|
|
|
|
NM_000528.4(MAN2B1):c.1410G>C (p.Gly470=)
|
rs1382087193
|
|
|
NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)
|
|
|
|
NM_000528.4(MAN2B1):c.1419+13A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1419+16C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1419+1G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1419+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1419+2_1419+15del
|
rs2145256406
|
|
|
NM_000528.4(MAN2B1):c.1419+5G>T
|
rs540367946
|
|
|
NM_000528.4(MAN2B1):c.1419+7G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)
|
|
|
|
NM_000528.4(MAN2B1):c.141T>C (p.Ala47=)
|
|
|
|
NM_000528.4(MAN2B1):c.1420-104_1449del
|
|
|
|
NM_000528.4(MAN2B1):c.1420-12G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1420-13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1420-14G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1420-19C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1420-27_1420-3del
|
|
|
|
NM_000528.4(MAN2B1):c.1420-2A>G
|
rs2145254657
|
|
|
NM_000528.4(MAN2B1):c.1420-4G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1420-4G>T
|
rs903942990
|
|
|
NM_000528.4(MAN2B1):c.1420-5C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1420-5del
|
|
|
|
NM_000528.4(MAN2B1):c.1420-9C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1422TCT[1] (p.Leu476del)
|
|
|
|
NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1437G>A (p.Ala479=)
|
rs139435774
|
|
|
NM_000528.4(MAN2B1):c.1443G>A (p.Ala481=)
|
rs2145254460
|
|
|
NM_000528.4(MAN2B1):c.1446G>A (p.Arg482=)
|
|
|
|
NM_000528.4(MAN2B1):c.1446G>C (p.Arg482=)
|
|
|
|
NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)
|
rs2023979174
|
|
|
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala)
|
rs373553609
|
|
|
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1455C>T (p.Gly485=)
|
|
|
|
NM_000528.4(MAN2B1):c.145dup (p.Ala49fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.1464T>C (p.Asp488=)
|
rs2145254316
|
|
|
NM_000528.4(MAN2B1):c.1467C>T (p.His489=)
|
rs2145254289
|
|
|
NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs)
|
rs2145254277
|
|
|
NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)
|
rs1057517316
|
|
|
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1477del (p.Cys493fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)
|
rs755508725
|
|
|
NM_000528.4(MAN2B1):c.1485G>A (p.Gln495=)
|
|
|
|
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val)
|
rs1339651416
|
|
|
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
|
NM_000528.4(MAN2B1):c.1503C>T (p.Cys501=)
|
rs886054230
|
|
|
NM_000528.4(MAN2B1):c.1506G>C (p.Pro502=)
|
rs1167317443
|
|
|
NM_000528.4(MAN2B1):c.1509C>T (p.Leu503=)
|
rs1406503787
|
|
|
NM_000528.4(MAN2B1):c.150G>C (p.Gly50=)
|
rs2145293903
|
|
|
NM_000528.4(MAN2B1):c.1511G>C (p.Ser504Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1515G>A (p.Gln505=)
|
|
|
|
NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)
|
rs1599349822
|
|
|
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys)
|
rs139255957
|
|
|
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val)
|
|
|
|
NM_000528.4(MAN2B1):c.1521G>A (p.Ala507=)
|
|
|
|
NM_000528.4(MAN2B1):c.1524G>A (p.Ala508=)
|
|
|
|
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1527+10G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1527+12C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1527+13G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1527+13G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>C
|
rs1322313985
|
|
|
NM_000528.4(MAN2B1):c.1527+1G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1527+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1527+20G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1527+2T>G
|
rs2145254041
|
|
|
NM_000528.4(MAN2B1):c.1527+3G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1527+8G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1527+8G>C
|
rs1216647114
|
|
|
NM_000528.4(MAN2B1):c.1528-11C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1528-11del
|
rs2145253449
|
|
|
NM_000528.4(MAN2B1):c.1528-12C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1528-13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1528-14C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1528-17G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1528-19C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1528-1G>T
|
rs561991886
|
|
|
NM_000528.4(MAN2B1):c.1528-2A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1528-5C>T
|
rs1177088769
|
|
|
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
|
rs2023968643
|
|
|
NM_000528.4(MAN2B1):c.1539C>A (p.Ile513=)
|
rs1277779220
|
|
|
NM_000528.4(MAN2B1):c.1539C>T (p.Ile513=)
|
|
|
|
NM_000528.4(MAN2B1):c.153A>T (p.Gly51=)
|
|
|
|
NM_000528.4(MAN2B1):c.1541T>C (p.Val514Ala)
|
rs1599349485
|
|
|
NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)
|
rs2023968144
|
|
|
NM_000528.4(MAN2B1):c.1545T>G (p.Tyr515Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1548T>C (p.Asn516=)
|
|
|
|
NM_000528.4(MAN2B1):c.1551C>T (p.Pro517=)
|
|
|
|
NM_000528.4(MAN2B1):c.1552C>T (p.Leu518=)
|
|
|
|
NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=)
|
|
|
|
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
|
rs1211189249
|
|
|
NM_000528.4(MAN2B1):c.1583_1599dup (p.Val534fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1584G>C (p.Leu528=)
|
|
|
|
NM_000528.4(MAN2B1):c.1584G>T (p.Leu528=)
|
|
|
|
NM_000528.4(MAN2B1):c.1587G>A (p.Pro529=)
|
|
|
|
NM_000528.4(MAN2B1):c.159+10G>A
|
|
|
|
NM_000528.4(MAN2B1):c.159+12C>T
|
|
|
|
NM_000528.4(MAN2B1):c.159+15C>G
|
|
|
|
NM_000528.4(MAN2B1):c.159+15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.159+16G>C
|
|
|
|
NM_000528.4(MAN2B1):c.159+1G>A
|
rs1555710254
|
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
|
NM_000528.4(MAN2B1):c.159+7G>A
|
rs2145293824
|
|
|
NM_000528.4(MAN2B1):c.159+9G>C
|
rs764391534
|
|
|
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)
|
rs2023965888
|
|
|
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp)
|
rs2145253098
|
|
|
NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)
|
|
|
|
NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)
|
|
|
|
NM_000528.4(MAN2B1):c.160-17T>C
|
|
|
|
NM_000528.4(MAN2B1):c.160-19G>A
|
|
|
|
NM_000528.4(MAN2B1):c.160-6G>A
|
|
|
|
NM_000528.4(MAN2B1):c.160-7T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1605C>T (p.Phe535=)
|
rs1421304561
|
|
|
NM_000528.4(MAN2B1):c.1606G>A (p.Val536Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)
|
rs2145290975
|
|
|
NM_000528.4(MAN2B1):c.1623T>C (p.Asn541=)
|
|
|
|
NM_000528.4(MAN2B1):c.162del (p.Cys55fs)
|
rs2145290970
|
|
|
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.1632A>G (p.Thr544=)
|
|
|
|
NM_000528.4(MAN2B1):c.1638C>T (p.Pro546=)
|
|
|
|
NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1641C>T (p.Ser547=)
|
rs1295503998
|
|
|
NM_000528.4(MAN2B1):c.1644+12_1644+18dup
|
|
|
|
NM_000528.4(MAN2B1):c.1644+13_1644+15del
|
|
|
|
NM_000528.4(MAN2B1):c.1644+15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1644+16G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1644+16G>C
|
|
|
|
NM_000528.4(MAN2B1):c.1644+18A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1644+4A>G
|
rs1218254964
|
|
|
NM_000528.4(MAN2B1):c.1645-11C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1645-12C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1645-16T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1645-18CCT[2]
|
rs2023943075
|
|
|
NM_000528.4(MAN2B1):c.1645-19C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1645-9T>C
|
rs2145250951
|
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
|
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr)
|
rs1475575364
|
|
|
NM_000528.4(MAN2B1):c.1659C>T (p.Pro553=)
|
rs1376701673
|
|
|
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1662C>T (p.Ser554=)
|
rs755140505
|
|
|
NM_000528.4(MAN2B1):c.1664C>G (p.Ser555Ter)
|
rs376719984
|
|
|
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.1667_1670del (p.Asp556fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1668C>T (p.Asp556=)
|
|
|
|
NM_000528.4(MAN2B1):c.166_175del (p.Pro56fs)
|
rs2145290929
|
|
|
NM_000528.4(MAN2B1):c.1671C>T (p.Ser557=)
|
|
|
|
NM_000528.4(MAN2B1):c.1674G>A (p.Gln558=)
|
|
|
|
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His)
|
|
|
|
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser)
|
rs1303843843
|
|
|
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.168C>T (p.Pro56=)
|
|
|
|
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro)
|
rs864621986
|
|
|
NM_000528.4(MAN2B1):c.1695G>C (p.Leu565=)
|
|
|
|
NM_000528.4(MAN2B1):c.16C>A (p.Arg6=)
|
rs2024256322
|
|
|
NM_000528.4(MAN2B1):c.1701A>G (p.Ser567=)
|
|
|
|
NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1704C>T (p.Ala568=)
|
rs781005116
|
|
|
NM_000528.4(MAN2B1):c.1707A>G (p.Ser569=)
|
rs2023940676
|
|
|
NM_000528.4(MAN2B1):c.1712C>A (p.Pro571His)
|
|
|
|
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)
|
rs377104016
|
|
|
NM_000528.4(MAN2B1):c.1716C>T (p.Ala572=)
|
rs2023940192
|
|
|
NM_000528.4(MAN2B1):c.1717C>T (p.Leu573=)
|
rs1183097697
|
|
|
NM_000528.4(MAN2B1):c.1719G>T (p.Leu573=)
|
|
|
|
NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1725C>T (p.Phe575=)
|
rs750784245
|
|
|
NM_000528.4(MAN2B1):c.1730C>G (p.Thr577Ser)
|
rs2145250460
|
|
|
NM_000528.4(MAN2B1):c.1734T>C (p.Tyr578=)
|
|
|
|
NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)
|
rs2023939487
|
|
|
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del)
|
|
|
|
NM_000528.4(MAN2B1):c.1740A>G (p.Val580=)
|
rs757635212
|
|
|
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr)
|
rs2145250381
|
|
|
NM_000528.4(MAN2B1):c.1747G>A (p.Val583Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu)
|
rs2145250358
|
|
|
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu)
|
rs1374305848
|
|
|
NM_000528.4(MAN2B1):c.1770C>T (p.Ala590=)
|
|
|
|
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)
|
|
|
|
NM_000528.4(MAN2B1):c.1773C>T (p.Arg591=)
|
rs987054644
|
|
|
NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)
|
rs1057516459
|
|
|
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)
|
rs769653813
|
|
|
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.1788C>A (p.Ile596=)
|
rs969379236
|
|
|
NM_000528.4(MAN2B1):c.1788C>T (p.Ile596=)
|
|
|
|
NM_000528.4(MAN2B1):c.1792A>C (p.Arg598=)
|
rs1214640045
|
|
|
NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.1801del (p.Trp601fs)
|
rs2145250113
|
|
|
NM_000528.4(MAN2B1):c.1802G>A (p.Trp601Ter)
|
rs2145250103
|
|
|
NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)
|
rs1224319934
|
|
|
NM_000528.4(MAN2B1):c.1806C>G (p.Ser602=)
|
|
|
|
NM_000528.4(MAN2B1):c.1821C>T (p.Ile607=)
|
rs2023936980
|
|
|
NM_000528.4(MAN2B1):c.1824A>G (p.Glu608=)
|
|
|
|
NM_000528.4(MAN2B1):c.1830+10C>T
|
rs2145249971
|
|
|
NM_000528.4(MAN2B1):c.1830+20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>T
|
|
|
|
NM_000528.4(MAN2B1):c.1830+7C>T
|
rs2145249984
|
|
|
NM_000528.4(MAN2B1):c.1830+8C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1830+9C>G
|
rs1347363395
|
|
|
NM_000528.4(MAN2B1):c.1830+9C>T
|
rs1347363395
|
|
|
NM_000528.4(MAN2B1):c.1831-14C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1831-17G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1831-19T>A
|
|
|
|
NM_000528.4(MAN2B1):c.1831-5C>T
|
rs778068734
|
|
|
NM_000528.4(MAN2B1):c.1833C>T (p.His611=)
|
rs2145240327
|
|
|
NM_000528.4(MAN2B1):c.1836C>T (p.Ile612=)
|
|
|
|
NM_000528.4(MAN2B1):c.1837C>T (p.Arg613Trp)
|
|
|
|
NM_000528.4(MAN2B1):c.1839G>A (p.Arg613=)
|
|
|
|
NM_000528.4(MAN2B1):c.183C>T (p.Asn61=)
|
rs2145290875
|
|
|
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met)
|
|
|
|
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)
|
rs370382032
|
|
|
NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)
|
rs1057516289
|
|
|
NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=)
|
rs2145240167
|
|
|
NM_000528.4(MAN2B1):c.1866G>A (p.Leu622=)
|
|
|
|
NM_000528.4(MAN2B1):c.1869G>A (p.Leu623=)
|
|
|
|
NM_000528.4(MAN2B1):c.1875G>A (p.Glu625=)
|
rs753652903
|
|
|
NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1896A>G (p.Gln632=)
|
rs1355122862
|
|
|
NM_000528.4(MAN2B1):c.1899C>T (p.Leu633=)
|
rs759584931
|
|
|
NM_000528.4(MAN2B1):c.18G>C (p.Arg6=)
|
|
|
|
NM_000528.4(MAN2B1):c.1902G>A (p.Leu634=)
|
rs2145240022
|
|
|
NM_000528.4(MAN2B1):c.1903C>T (p.Leu635=)
|
|
|
|
NM_000528.4(MAN2B1):c.1908T>G (p.Pro636=)
|
rs2145239992
|
|
|
NM_000528.4(MAN2B1):c.1912C>T (p.Arg638Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
|
rs146725928
|
|
|
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter)
|
rs121434332
|
|
|
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His)
|
|
|
|
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del)
|
rs779241409
|
|
|
NM_000528.4(MAN2B1):c.1923C>T (p.Phe641=)
|
|
|
|
NM_000528.4(MAN2B1):c.1926C>T (p.Phe642=)
|
rs2145239886
|
|
|
NM_000528.4(MAN2B1):c.1928+13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1928+14A>C
|
|
|
|
NM_000528.4(MAN2B1):c.1928+17A>G
|
|
|
|
NM_000528.4(MAN2B1):c.1928+7G>A
|
|
|
|
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)
|
rs1599344532
|
|
|
NM_000528.4(MAN2B1):c.1929-11C>T
|
|
|
|
NM_000528.4(MAN2B1):c.1929-16C>A
|
|
|
|
NM_000528.4(MAN2B1):c.1929-19T>C
|
|
|
|
NM_000528.4(MAN2B1):c.1929-19_1929-18del
|
rs754980913
|
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
|
NM_000528.4(MAN2B1):c.1929-2A>T
|
|
|
|
NM_000528.4(MAN2B1):c.1929-4C>G
|
|
|
|
NM_000528.4(MAN2B1):c.1929-7A>C
|
|
|
|
NM_000528.4(MAN2B1):c.1929-7A>T
|
|
|
|
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)
|
rs398123455
|
|
|
NM_000528.4(MAN2B1):c.192C>T (p.Asn64=)
|
|
|
|
NM_000528.4(MAN2B1):c.1932C>T (p.Tyr644=)
|
rs2145239589
|
|
|
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)
|
rs1599344435
|
|
|
NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.1950C>T (p.Asp650=)
|
|
|
|
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
|
rs756680048
|
|
|
NM_000528.4(MAN2B1):c.1959T>C (p.Ser653=)
|
rs1399579935
|
|
|
NM_000528.4(MAN2B1):c.195G>T (p.Val65=)
|
|
|
|
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr)
|
rs932247520
|
|
|
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
|
rs2023854692
|
|
|
NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1971A>C (p.Ser657=)
|
|
|
|
NM_000528.4(MAN2B1):c.1974T>C (p.Gly658=)
|
|
|
|
NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His)
|
rs2023853658
|
|
|
NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)
|
|
|
|
NM_000528.4(MAN2B1):c.1999C>T (p.Gln667Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)
|
rs967834240
|
|
|
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)
|
rs967834240
|
|
|
NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)
|
rs2023853280
|
|
|
NM_000528.4(MAN2B1):c.2004A>G (p.Lys668=)
|
rs750566481
|
|
|
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2007G>T (p.Pro669=)
|
|
|
|
NM_000528.4(MAN2B1):c.2008C>T (p.Leu670=)
|
rs2145239106
|
|
|
NM_000528.4(MAN2B1):c.2010G>A (p.Leu670=)
|
|
|
|
NM_000528.4(MAN2B1):c.2014G>C (p.Val672Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His)
|
|
|
|
NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)
|
rs2023852354
|
|
|
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)
|
rs2023851530
|
|
|
NM_000528.4(MAN2B1):c.2046+12G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2046+1G>A
|
rs1555707087
|
|
|
NM_000528.4(MAN2B1):c.2046+1G>T
|
rs1555707087
|
|
|
NM_000528.4(MAN2B1):c.2046+6G>T
|
rs748175413
|
|
|
NM_000528.4(MAN2B1):c.2047-12G>C
|
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2047-14C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047-15C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2047-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047-17C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047-19C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047-1G>A
|
rs1057517166
|
|
|
NM_000528.4(MAN2B1):c.2047-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047-7C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)
|
rs2023810273
|
|
|
NM_000528.4(MAN2B1):c.2052C>G (p.Pro684=)
|
|
|
|
NM_000528.4(MAN2B1):c.2052C>T (p.Pro684=)
|
rs921831751
|
|
|
NM_000528.4(MAN2B1):c.2053T>C (p.Leu685=)
|
|
|
|
NM_000528.4(MAN2B1):c.2058G>A (p.Val686=)
|
|
|
|
NM_000528.4(MAN2B1):c.205C>G (p.Pro69Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)
|
rs2023809731
|
|
|
NM_000528.4(MAN2B1):c.2076C>T (p.Asn692=)
|
|
|
|
NM_000528.4(MAN2B1):c.2085T>C (p.Ala695=)
|
rs2145233462
|
|
|
NM_000528.4(MAN2B1):c.2088G>A (p.Trp696Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)
|
rs2023809176
|
|
|
NM_000528.4(MAN2B1):c.2097G>A (p.Gln699=)
|
|
|
|
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
|
|
|
|
NM_000528.4(MAN2B1):c.2107C>T (p.Leu703=)
|
rs1469037105
|
|
|
NM_000528.4(MAN2B1):c.2109G>A (p.Leu703=)
|
rs2145233361
|
|
|
NM_000528.4(MAN2B1):c.2109G>C (p.Leu703=)
|
|
|
|
NM_000528.4(MAN2B1):c.2112C>T (p.Tyr704=)
|
rs2023808625
|
|
|
NM_000528.4(MAN2B1):c.2113_2114delinsTA (p.Pro705Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)
|
rs1555706774
|
|
|
NM_000528.4(MAN2B1):c.2117_2121dup (p.Arg708fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2121G>A (p.Gln707=)
|
|
|
|
NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)
|
|
|
|
NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)
|
|
|
|
NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs)
|
rs2145290731
|
|
|
NM_000528.4(MAN2B1):c.2133G>A (p.Glu711=)
|
|
|
|
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu)
|
|
|
|
NM_000528.4(MAN2B1):c.2148G>A (p.Val716=)
|
|
|
|
NM_000528.4(MAN2B1):c.2152_2165+1dup
|
|
|
|
NM_000528.4(MAN2B1):c.2154G>A (p.Pro718=)
|
|
|
|
NM_000528.4(MAN2B1):c.2154G>C (p.Pro718=)
|
rs1239156445
|
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
|
NM_000528.4(MAN2B1):c.2160T>A (p.Pro720=)
|
rs939754783
|
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
|
NM_000528.4(MAN2B1):c.2165+1del
|
rs1555706752
|
|
|
NM_000528.4(MAN2B1):c.2165+20A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2166-10T>C
|
rs2145232830
|
|
|
NM_000528.4(MAN2B1):c.2166-10_2166-2del
|
rs1555706734
|
|
|
NM_000528.4(MAN2B1):c.2166-2A>G
|
rs2145232776
|
|
|
NM_000528.4(MAN2B1):c.2166-8G>T
|
|
|
|
NM_000528.4(MAN2B1):c.2169C>T (p.Asp723=)
|
rs2145232751
|
|
|
NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)
|
rs2023804275
|
|
|
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
|
rs1392422167
|
|
|
NM_000528.4(MAN2B1):c.2176G>A (p.Gly726Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)
|
|
|
|
NM_000528.4(MAN2B1):c.219T>C (p.Asp73=)
|
|
|
|
NM_000528.4(MAN2B1):c.2202C>T (p.Asp734=)
|
|
|
|
NM_000528.4(MAN2B1):c.2206C>A (p.Pro736Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.2209C>T (p.Leu737=)
|
|
|
|
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)
|
rs1555706706
|
|
|
NM_000528.4(MAN2B1):c.2220G>A (p.Lys740=)
|
rs1599341929
|
|
|
NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.222C>T (p.Asp74=)
|
rs746702002
|
|
|
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg)
|
rs864621987
|
|
|
NM_000528.4(MAN2B1):c.2237_2240del (p.Asp746fs)
|
|
|
|
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2247C>T (p.Gly749=)
|
rs762877000
|
|
|
NM_000528.4(MAN2B1):c.2248C>A (p.Arg750=)
|
rs80338680
|
|
|
NM_000528.4(MAN2B1):c.2248C>G (p.Arg750Gly)
|
rs80338680
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
|
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu)
|
rs938995975
|
|
|
NM_000528.4(MAN2B1):c.2250G>A (p.Arg750=)
|
rs2145232390
|
|
|
NM_000528.4(MAN2B1):c.2256C>T (p.Ile752=)
|
|
|
|
NM_000528.4(MAN2B1):c.2267+11A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2267+13T>A
|
|
|
|
NM_000528.4(MAN2B1):c.2267+13_2267+14del
|
|
|
|
NM_000528.4(MAN2B1):c.2267+17A>C
|
|
|
|
NM_000528.4(MAN2B1):c.2267+5G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2267+8G>T
|
rs1599341786
|
|
|
NM_000528.4(MAN2B1):c.2267+8del
|
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
|
NM_000528.4(MAN2B1):c.2268-10C>T
|
rs2145230110
|
|
|
NM_000528.4(MAN2B1):c.2268-13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2268-15C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2268-1G>C
|
rs1555706596
|
|
|
NM_000528.4(MAN2B1):c.2268-20C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2268-2A>T
|
rs2023783146
|
|
|
NM_000528.4(MAN2B1):c.2268-4_2268-3dup
|
rs2023783257
|
|
|
NM_000528.4(MAN2B1):c.2268-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2268-7A>C
|
|
|
|
NM_000528.4(MAN2B1):c.2268-7A>T
|
rs1217502965
|
|
|
NM_000528.4(MAN2B1):c.2268-8A>C
|
rs2145230094
|
|
|
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
|
rs2023782686
|
|
|
NM_000528.4(MAN2B1):c.2278C>A (p.Arg760=)
|
|
|
|
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly)
|
rs121434331
|
|
|
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)
|
|
|
|
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.2286C>G (p.Thr762=)
|
rs1329977611
|
|
|
NM_000528.4(MAN2B1):c.2289_2295dup (p.Asn766fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2295G>A (p.Leu765=)
|
|
|
|
NM_000528.4(MAN2B1):c.2300_2301insAA (p.Thr768fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2310C>G (p.Pro770=)
|
|
|
|
NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)
|
rs1555710070
|
|
|
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser)
|
rs1599340883
|
|
|
NM_000528.4(MAN2B1):c.2331A>G (p.Pro777=)
|
|
|
|
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
|
rs1387086908
|
|
|
NM_000528.4(MAN2B1):c.2340C>T (p.Thr780=)
|
|
|
|
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2355+10C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2355+11C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2355+12C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2355+12C>T
|
rs748608740
|
|
|
NM_000528.4(MAN2B1):c.2355+13C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2355+15T>A
|
|
|
|
NM_000528.4(MAN2B1):c.2355+16C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2355+20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2355+33C>T
|
rs374660827
|
|
|
NM_000528.4(MAN2B1):c.2355+6T>C
|
|
|
|
NM_000528.4(MAN2B1):c.2355+8_2355+10del
|
|
|
|
NM_000528.4(MAN2B1):c.2355+9C>G
|
rs1293149729
|
|
|
NM_000528.4(MAN2B1):c.2355+9C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
|
rs1008745697
|
|
|
NM_000528.4(MAN2B1):c.2356-10C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2356-14C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2356-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2356-17C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2356-19_2356-18del
|
|
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
|
NM_000528.4(MAN2B1):c.2356-4C>A
|
rs2145229013
|
|
|
NM_000528.4(MAN2B1):c.2356-5C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2361A>G (p.Gly787=)
|
|
|
|
NM_000528.4(MAN2B1):c.2376T>G (p.Thr792=)
|
|
|
|
NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs)
|
rs2145290586
|
|
|
NM_000528.4(MAN2B1):c.2380C>T (p.Leu794=)
|
|
|
|
NM_000528.4(MAN2B1):c.2382G>A (p.Leu794=)
|
|
|
|
NM_000528.4(MAN2B1):c.2388C>T (p.Asp796=)
|
rs2145228830
|
|
|
NM_000528.4(MAN2B1):c.2390G>A (p.Arg797His)
|
|
|
|
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu)
|
rs750957781
|
|
|
NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2397G>A (p.Gln799=)
|
|
|
|
NM_000528.4(MAN2B1):c.2398G>A (p.Gly800Arg)
|
rs398123456
|
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
|
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp)
|
rs398123456
|
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
|
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)
|
rs797044680
|
|
|
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
|
rs1347035611
|
|
|
NM_000528.4(MAN2B1):c.2415A>G (p.Arg805=)
|
|
|
|
NM_000528.4(MAN2B1):c.241del (p.Val81fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2421C>G (p.Gly807=)
|
rs2023773802
|
|
|
NM_000528.4(MAN2B1):c.2421C>T (p.Gly807=)
|
|
|
|
NM_000528.4(MAN2B1):c.2424G>C (p.Ser808=)
|
rs762947868
|
|
|
NM_000528.4(MAN2B1):c.2436+12A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2436+17C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2436+1G>A
|
rs200036864
|
|
|
NM_000528.4(MAN2B1):c.2436+5G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2436+7G>C
|
rs2145228476
|
|
|
NM_000528.4(MAN2B1):c.2436+8G>C
|
rs1375276402
|
|
|
NM_000528.4(MAN2B1):c.2437-10C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2437-10C>T
|
rs776013861
|
|
|
NM_000528.4(MAN2B1):c.2437-11T>A
|
|
|
|
NM_000528.4(MAN2B1):c.2437-12C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2437-19C>T
|
rs2145226099
|
|
|
NM_000528.4(MAN2B1):c.2437-20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2437-22_2437-3dup
|
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>C
|
|
|
|
NM_000528.4(MAN2B1):c.2437-2A>G
|
rs1445197546
|
|
|
NM_000528.4(MAN2B1):c.2437-300_2719del
|
|
|
|
NM_000528.4(MAN2B1):c.2437-4C>G
|
rs772778684
|
|
|
NM_000528.4(MAN2B1):c.2437-4C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2437-5C>A
|
rs200695002
|
|
|
NM_000528.4(MAN2B1):c.2437-5C>T
|
rs200695002
|
|
|
NM_000528.4(MAN2B1):c.2437-7C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2437-8C>A
|
rs1599339769
|
|
|
NM_000528.4(MAN2B1):c.2437-8C>T
|
rs1599339769
|
|
|
NM_000528.4(MAN2B1):c.2439G>T (p.Val813=)
|
|
|
|
NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2448G>A (p.Arg816=)
|
|
|
|
NM_000528.4(MAN2B1):c.2449C>T (p.Leu817=)
|
rs1333446493
|
|
|
NM_000528.4(MAN2B1):c.2452C>T (p.Leu818=)
|
|
|
|
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)
|
rs746805353
|
|
|
NM_000528.4(MAN2B1):c.2469_2478del (p.Gly824fs)
|
rs2145225759
|
|
|
NM_000528.4(MAN2B1):c.2472A>T (p.Gly824=)
|
rs2145225818
|
|
|
NM_000528.4(MAN2B1):c.2478G>T (p.Ser826=)
|
|
|
|
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
|
rs2024217737
|
|
|
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro)
|
rs1555706406
|
|
|
NM_000528.4(MAN2B1):c.2487A>C (p.Leu829=)
|
|
|
|
NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)
|
rs144244650
|
|
|
NM_000528.4(MAN2B1):c.24G>C (p.Ser8=)
|
rs2145294761
|
|
|
NM_000528.4(MAN2B1):c.2500T>C (p.Ser834Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2502G>A (p.Ser834=)
|
rs1244438379
|
|
|
NM_000528.4(MAN2B1):c.2505G>A (p.Gly835=)
|
rs756475764
|
|
|
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
|
rs140281123
|
|
|
NM_000528.4(MAN2B1):c.2508G>A (p.Ala836=)
|
rs1344703081
|
|
|
NM_000528.4(MAN2B1):c.2511G>A (p.Trp837Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2512_2513insGGCGCGGG (p.Val838fs)
|
rs2145225515
|
|
|
NM_000528.4(MAN2B1):c.2514G>A (p.Val838=)
|
|
|
|
NM_000528.4(MAN2B1):c.2515C>T (p.Arg839Ter)
|
rs1291147781
|
|
|
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
|
rs2023749207
|
|
|
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg)
|
rs752079394
|
|
|
NM_000528.4(MAN2B1):c.2521C>T (p.Arg841Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.2529G>A (p.Leu843=)
|
rs2145225369
|
|
|
NM_000528.4(MAN2B1):c.2529G>C (p.Leu843=)
|
|
|
|
NM_000528.4(MAN2B1):c.252C>A (p.Tyr84Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2533C>T (p.Leu845=)
|
rs2023747886
|
|
|
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
|
rs2145225250
|
|
|
NM_000528.4(MAN2B1):c.2535G>A (p.Leu845=)
|
rs2145225332
|
|
|
NM_000528.4(MAN2B1):c.2541C>T (p.Asp847=)
|
rs2145225321
|
|
|
NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
|
|
|
|
NM_000528.4(MAN2B1):c.2555_2586del (p.Ala852fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val)
|
rs886054229
|
|
|
NM_000528.4(MAN2B1):c.2559C>G (p.Ala853=)
|
rs1231981026
|
|
|
NM_000528.4(MAN2B1):c.2559C>T (p.Ala853=)
|
rs1231981026
|
|
|
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
|
rs2023745479
|
|
|
NM_000528.4(MAN2B1):c.255T>C (p.Phe85=)
|
|
|
|
NM_000528.4(MAN2B1):c.2562C>T (p.Ala854=)
|
rs10410289
|
|
|
NM_000528.4(MAN2B1):c.2569C>A (p.Arg857=)
|
|
|
|
NM_000528.4(MAN2B1):c.256dup (p.Tyr86fs)
|
rs2024217430
|
|
|
NM_000528.4(MAN2B1):c.2571G>T (p.Arg857=)
|
rs2145225130
|
|
|
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
|
|
|
|
NM_000528.4(MAN2B1):c.2574C>T (p.Leu858=)
|
|
|
|
NM_000528.4(MAN2B1):c.2577G>A (p.Leu859=)
|
|
|
|
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
|
|
|
|
NM_000528.4(MAN2B1):c.2580G>C (p.Ala860=)
|
rs2145225071
|
|
|
NM_000528.4(MAN2B1):c.258T>C (p.Tyr86=)
|
rs2145290474
|
|
|
NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.2592C>T (p.Val864=)
|
rs2145224964
|
|
|
NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)
|
|
|
|
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2604_2605del (p.Gln868fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln)
|
rs752022224
|
|
|
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2619G>C (p.Pro873=)
|
rs372896479
|
|
|
NM_000528.4(MAN2B1):c.262+10G>A
|
rs2024216791
|
|
|
NM_000528.4(MAN2B1):c.262+11G>A
|
|
|
|
NM_000528.4(MAN2B1):c.262+13T>C
|
|
|
|
NM_000528.4(MAN2B1):c.262+15G>T
|
|
|
|
NM_000528.4(MAN2B1):c.262+16G>A
|
rs1184948246
|
|
|
NM_000528.4(MAN2B1):c.262+17G>A
|
|
|
|
NM_000528.4(MAN2B1):c.262+17del
|
|
|
|
NM_000528.4(MAN2B1):c.262+19C>G
|
|
|
|
NM_000528.4(MAN2B1):c.262+1G>C
|
rs2145290458
|
|
|
NM_000528.4(MAN2B1):c.262+2T>C
|
|
|
|
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.263-10T>C
|
rs1208363184
|
|
|
NM_000528.4(MAN2B1):c.263-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.263-18T>C
|
|
|
|
NM_000528.4(MAN2B1):c.263-1G>A
|
|
|
|
NM_000528.4(MAN2B1):c.263-20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.263-2A>C
|
|
|
|
NM_000528.4(MAN2B1):c.263-4A>C
|
rs1201157333
|
|
|
NM_000528.4(MAN2B1):c.263-4A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2631C>T (p.Ala877=)
|
|
|
|
NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2637C>T (p.Tyr879=)
|
rs2023741724
|
|
|
NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys)
|
rs763786776
|
|
|
NM_000528.4(MAN2B1):c.2643C>T (p.Leu881=)
|
rs2023741346
|
|
|
NM_000528.4(MAN2B1):c.2647del (p.Ala883fs)
|
rs2145224416
|
|
|
NM_000528.4(MAN2B1):c.2655G>C (p.Pro885=)
|
|
|
|
NM_000528.4(MAN2B1):c.2655G>T (p.Pro885=)
|
|
|
|
NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
|
|
|
|
NM_000528.4(MAN2B1):c.2658C>T (p.Arg886=)
|
|
|
|
NM_000528.4(MAN2B1):c.2664+13G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2664+15G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2664+18A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2664+20G>C
|
|
|
|
NM_000528.4(MAN2B1):c.2664+7G>C
|
|
|
|
NM_000528.4(MAN2B1):c.2664+8G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2664+9C>T
|
rs1485817124
|
|
|
NM_000528.4(MAN2B1):c.2665-11C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2665-11C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-12T>C
|
|
|
|
NM_000528.4(MAN2B1):c.2665-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-165G>C
|
rs2145222928
|
|
|
NM_000528.4(MAN2B1):c.2665-16G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2665-17C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-17del
|
|
|
|
NM_000528.4(MAN2B1):c.2665-19C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2665-19C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-1G>C
|
rs1555706185
|
|
|
NM_000528.4(MAN2B1):c.2665-20C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2665-20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-28_2665-9del
|
|
|
|
NM_000528.4(MAN2B1):c.2665-2A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2665-4G>A
|
rs1461826298
|
|
|
NM_000528.4(MAN2B1):c.2665-5C>T
|
rs1555706187
|
|
|
NM_000528.4(MAN2B1):c.2665-7C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2665-8T>C
|
|
|
|
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)
|
rs1406466561
|
|
|
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs)
|
rs1599338484
|
|
|
NM_000528.4(MAN2B1):c.2673G>A (p.Gly891=)
|
|
|
|
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2674C>T (p.Leu892=)
|
|
|
|
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro)
|
rs864621989
|
|
|
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
|
|
|
|
NM_000528.4(MAN2B1):c.2679C>A (p.Arg893=)
|
rs1434923922
|
|
|
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.2685C>T (p.Asp895=)
|
rs2145221975
|
|
|
NM_000528.4(MAN2B1):c.2686C>T (p.Leu896=)
|
rs2145221961
|
|
|
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)
|
|
|
|
NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)
|
|
|
|
NM_000528.4(MAN2B1):c.2694C>T (p.Pro898=)
|
rs2023721432
|
|
|
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)
|
rs767323371
|
|
|
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)
|
|
|
|
NM_000528.4(MAN2B1):c.2697G>C (p.Ser899=)
|
rs1342775181
|
|
|
NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)
|
rs1274103813
|
|
|
NM_000528.4(MAN2B1):c.2703C>T (p.His901=)
|
|
|
|
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)
|
rs1301597273
|
|
|
NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)
|
|
|
|
NM_000528.4(MAN2B1):c.2712G>A (p.Thr904=)
|
rs773210333
|
|
|
NM_000528.4(MAN2B1):c.2718C>T (p.Ala906=)
|
rs2023720244
|
|
|
NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)
|
rs368224056
|
|
|
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)
|
rs2023720009
|
|
|
NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)
|
|
|
|
NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)
|
|
|
|
NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)
|
rs139366493
|
|
|
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
|
|
|
|
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro)
|
rs1555706137
|
|
|
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)
|
rs864621990
|
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
|
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
|
rs1184081650
|
|
|
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
|
rs2145221516
|
|
|
NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)
|
rs2023718817
|
|
|
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
|
|
|
|
NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.2760G>A (p.Gln920=)
|
|
|
|
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)
|
rs755553683
|
|
|
NM_000528.4(MAN2B1):c.2769A>G (p.Val923=)
|
rs2145221414
|
|
|
NM_000528.4(MAN2B1):c.276C>A (p.Ile92=)
|
rs1568308637
|
|
|
NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)
|
|
|
|
NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)
|
rs1057516325
|
|
|
NM_000528.4(MAN2B1):c.2781C>T (p.Ser927=)
|
|
|
|
NM_000528.4(MAN2B1):c.2782G>A (p.Gly928Arg)
|
rs754733253
|
|
|
NM_000528.4(MAN2B1):c.2784A>C (p.Gly928=)
|
rs2145221323
|
|
|
NM_000528.4(MAN2B1):c.2791C>T (p.Leu931=)
|
|
|
|
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
|
rs1403072896
|
|
|
NM_000528.4(MAN2B1):c.2796C>T (p.Ser932=)
|
|
|
|
NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.2799C>T (p.Ala933=)
|
rs2145221244
|
|
|
NM_000528.4(MAN2B1):c.27G>T (p.Gly9=)
|
rs1428387159
|
|
|
NM_000528.4(MAN2B1):c.2802C>G (p.Pro934=)
|
|
|
|
NM_000528.4(MAN2B1):c.2802C>T (p.Pro934=)
|
rs772974771
|
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
|
NM_000528.4(MAN2B1):c.2808C>G (p.Thr936=)
|
|
|
|
NM_000528.4(MAN2B1):c.2817G>A (p.Leu939=)
|
|
|
|
NM_000528.4(MAN2B1):c.2818A>C (p.Arg940=)
|
|
|
|
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2820+10G>A
|
rs2145221057
|
|
|
NM_000528.4(MAN2B1):c.2820+17T>G
|
|
|
|
NM_000528.4(MAN2B1):c.2820+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2820+7A>C
|
|
|
|
NM_000528.4(MAN2B1):c.2820+7A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2820+8G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2820+9G>C
|
|
|
|
NM_000528.4(MAN2B1):c.2821-12C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2821-13C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2821-16A>C
|
|
|
|
NM_000528.4(MAN2B1):c.2821-17C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2821-20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2821-2A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2821-4G>A
|
rs753776387
|
|
|
NM_000528.4(MAN2B1):c.2821-7C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2821-8C>A
|
|
|
|
NM_000528.4(MAN2B1):c.2821-9T>C
|
rs1230398007
|
|
|
NM_000528.4(MAN2B1):c.2826G>A (p.Leu942=)
|
rs2145220574
|
|
|
NM_000528.4(MAN2B1):c.282C>A (p.His94Gln)
|
|
|
|
NM_000528.4(MAN2B1):c.2835C>T (p.Thr945=)
|
|
|
|
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro)
|
rs754036398
|
|
|
NM_000528.4(MAN2B1):c.2841C>A (p.Thr947=)
|
rs1599338014
|
|
|
NM_000528.4(MAN2B1):c.2844C>T (p.Ile948=)
|
|
|
|
NM_000528.4(MAN2B1):c.2847C>T (p.Thr949=)
|
|
|
|
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)
|
rs139041112
|
|
|
NM_000528.4(MAN2B1):c.2850C>A (p.Arg950=)
|
rs2145220436
|
|
|
NM_000528.4(MAN2B1):c.2850C>T (p.Arg950=)
|
rs2145220436
|
|
|
NM_000528.4(MAN2B1):c.2853G>A (p.Leu951=)
|
rs2145220425
|
|
|
NM_000528.4(MAN2B1):c.285C>G (p.Ala95=)
|
rs750997069
|
|
|
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
|
rs750997069
|
|
|
NM_000528.4(MAN2B1):c.2862C>G (p.Thr954=)
|
|
|
|
NM_000528.4(MAN2B1):c.2862C>T (p.Thr954=)
|
rs2145220382
|
|
|
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs)
|
rs1599337939
|
|
|
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
|
rs148108322
|
|
|
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)
|
rs2023711115
|
|
|
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
|
rs1376771729
|
|
|
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2885_2898del (p.Arg962fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
|
rs757072948
|
|
|
NM_000528.4(MAN2B1):c.2887_2902del (p.Glu963fs)
|
rs2023710111
|
|
|
NM_000528.4(MAN2B1):c.288T>A (p.Gly96=)
|
|
|
|
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
|
rs1365532315
|
|
|
NM_000528.4(MAN2B1):c.2898C>T (p.Ser966=)
|
rs2145220044
|
|
|
NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)
|
rs2023709677
|
|
|
NM_000528.4(MAN2B1):c.2913A>G (p.Thr971=)
|
rs2145219944
|
|
|
NM_000528.4(MAN2B1):c.2917_2923+1dup
|
|
|
|
NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)
|
rs1555705992
|
|
|
NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)
|
rs1057516897
|
|
|
NM_000528.4(MAN2B1):c.2923+10T>G
|
|
|
|
NM_000528.4(MAN2B1):c.2923+12G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2923+16G>A
|
|
|
|
NM_000528.4(MAN2B1):c.2923+19dup
|
|
|
|
NM_000528.4(MAN2B1):c.2923+20T>A
|
|
|
|
NM_000528.4(MAN2B1):c.2924-10A>G
|
|
|
|
NM_000528.4(MAN2B1):c.2924-16C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2924-19T>G
|
|
|
|
NM_000528.4(MAN2B1):c.2924-4C>G
|
|
|
|
NM_000528.4(MAN2B1):c.2924-4C>T
|
rs767564979
|
|
|
NM_000528.4(MAN2B1):c.2924-5_2924-3del
|
|
|
|
NM_000528.4(MAN2B1):c.2924-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2924-9C>T
|
|
|
|
NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)
|
rs766559062
|
|
|
NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)
|
rs2024210372
|
|
|
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr)
|
rs763382948
|
|
|
NM_000528.4(MAN2B1):c.2934C>T (p.Pro978=)
|
|
|
|
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
|
rs1735642901
|
|
|
NM_000528.4(MAN2B1):c.2952G>A (p.Gln984=)
|
rs762355600
|
|
|
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His)
|
rs794727484
|
|
|
NM_000528.4(MAN2B1):c.2961G>T (p.Pro987=)
|
rs369658144
|
|
|
NM_000528.4(MAN2B1):c.2964C>G (p.Ala988=)
|
rs2145217649
|
|
|
NM_000528.4(MAN2B1):c.2970C>A (p.Ile990=)
|
|
|
|
NM_000528.4(MAN2B1):c.2970del (p.Thr991fs)
|
|
|
|
NM_000528.4(MAN2B1):c.2974C>T (p.Leu992=)
|
|
|
|
NM_000528.4(MAN2B1):c.297C>T (p.Tyr99=)
|
|
|
|
NM_000528.4(MAN2B1):c.2982C>T (p.Pro994=)
|
|
|
|
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
|
rs886054228
|
|
|
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.2994C>T (p.Arg998=)
|
rs2023694655
|
|
|
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
|
rs864621991
|
|
|
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly)
|
rs1169325876
|
|
|
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)
|
rs1555710357
|
|
|
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)
|
rs1555710357
|
|
|
NM_000528.4(MAN2B1):c.3000C>T (p.Phe1000=)
|
|
|
|
NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
|
|
|
|
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.3009A>G (p.Ser1003=)
|
|
|
|
NM_000528.4(MAN2B1):c.300C>T (p.Ile100=)
|
|
|
|
NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.3030T>C (p.Asp1010=)
|
|
|
|
NM_000528.4(MAN2B1):c.306C>T (p.Asp102=)
|
rs2145289655
|
|
|
NM_000528.4(MAN2B1):c.309G>C (p.Ser103=)
|
rs1175779934
|
|
|
NM_000528.4(MAN2B1):c.309G>T (p.Ser103=)
|
rs1175779934
|
|
|
NM_000528.4(MAN2B1):c.30C>G (p.Val10=)
|
rs2145294698
|
|
|
NM_000528.4(MAN2B1):c.312C>T (p.Val104=)
|
|
|
|
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
|
rs2145289566
|
|
|
NM_000528.4(MAN2B1):c.325C>T (p.Leu109=)
|
rs756417972
|
|
|
NM_000528.4(MAN2B1):c.333T>C (p.Asp111=)
|
|
|
|
NM_000528.4(MAN2B1):c.33C>T (p.Cys11=)
|
rs1599361566
|
|
|
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.343dup (p.Arg115fs)
|
|
|
|
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.358G>A (p.Glu120Lys)
|
rs2024208039
|
|
|
NM_000528.4(MAN2B1):c.360G>A (p.Glu120=)
|
rs2145289378
|
|
|
NM_000528.4(MAN2B1):c.366C>T (p.Ala122=)
|
|
|
|
NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)
|
rs1555709972
|
|
|
NM_000528.4(MAN2B1):c.387C>T (p.His129=)
|
|
|
|
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
|
rs1366682636
|
|
|
NM_000528.4(MAN2B1):c.39C>A (p.Arg13=)
|
rs537304777
|
|
|
NM_000528.4(MAN2B1):c.39C>G (p.Arg13=)
|
rs537304777
|
|
|
NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.414del (p.Val139fs)
|
|
|
|
NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
|
|
|
|
NM_000528.4(MAN2B1):c.418C>A (p.Arg140=)
|
rs370803545
|
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
|
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
|
|
|
|
NM_000528.4(MAN2B1):c.426T>C (p.Leu142=)
|
|
|
|
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
|
rs2024205685
|
|
|
NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
|
|
|
|
NM_000528.4(MAN2B1):c.429G>A (p.Val143=)
|
rs2145288992
|
|
|
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
|
|
|
|
NM_000528.4(MAN2B1):c.436+10C>T
|
|
|
|
NM_000528.4(MAN2B1):c.436+12C>G
|
rs373250649
|
|
|
NM_000528.4(MAN2B1):c.436+13C>G
|
|
|
|
NM_000528.4(MAN2B1):c.436+14A>G
|
|
|
|
NM_000528.4(MAN2B1):c.436+20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.436+20G>T
|
|
|
|
NM_000528.4(MAN2B1):c.437-11T>G
|
|
|
|
NM_000528.4(MAN2B1):c.437-1G>A
|
|
|
|
NM_000528.4(MAN2B1):c.437-1dup
|
rs1160557969
|
|
|
NM_000528.4(MAN2B1):c.437-20C>T
|
|
|
|
NM_000528.4(MAN2B1):c.437-2A>G
|
|
|
|
NM_000528.4(MAN2B1):c.437-2del
|
|
|
|
NM_000528.4(MAN2B1):c.437-4A>G
|
|
|
|
NM_000528.4(MAN2B1):c.437-4dup
|
|
|
|
NM_000528.4(MAN2B1):c.438G>A (p.Gly146=)
|
|
|
|
NM_000528.4(MAN2B1):c.440del (p.Arg147fs)
|
|
|
|
NM_000528.4(MAN2B1):c.446del (p.Glu149fs)
|
rs1057516682
|
|
|
NM_000528.4(MAN2B1):c.447G>A (p.Glu149=)
|
|
|
|
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
|
|
|
|
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
|
|
|
|
NM_000528.4(MAN2B1):c.465G>A (p.Trp155Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
|
rs2024192356
|
|
|
NM_000528.4(MAN2B1):c.468G>A (p.Val156=)
|
rs746115085
|
|
|
NM_000528.4(MAN2B1):c.469del (p.Val156_Met157insTer)
|
|
|
|
NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)
|
|
|
|
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)
|
rs2145287284
|
|
|
NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)
|
rs771479314
|
|
|
NM_000528.4(MAN2B1):c.495C>T (p.Tyr165=)
|
rs771479314
|
|
|
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser)
|
rs749680035
|
|
|
NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val)
|
|
|
|
NM_000528.4(MAN2B1):c.504C>T (p.Ile168=)
|
rs769374044
|
|
|
NM_000528.4(MAN2B1):c.510C>T (p.Asp170=)
|
|
|
|
NM_000528.4(MAN2B1):c.511C>T (p.Gln171Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.522del (p.Leu176fs)
|
|
|
|
NM_000528.4(MAN2B1):c.525G>A (p.Gly175=)
|
rs2145287109
|
|
|
NM_000528.4(MAN2B1):c.526C>T (p.Leu176=)
|
rs750397298
|
|
|
NM_000528.4(MAN2B1):c.531C>A (p.Arg177=)
|
rs2024190021
|
|
|
NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)
|
rs1057516810
|
|
|
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)
|
rs2145294424
|
|
|
NM_000528.4(MAN2B1):c.543C>T (p.Asp181=)
|
|
|
|
NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile)
|
|
|
|
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.561del (p.Arg188fs)
|
rs770297337
|
|
|
NM_000528.4(MAN2B1):c.57A>G (p.Ala19=)
|
rs2024254219
|
|
|
NM_000528.4(MAN2B1):c.582C>T (p.His194=)
|
rs1424705311
|
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
|
NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)
|
|
|
|
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)
|
rs864621978
|
|
|
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
|
|
|
|
NM_000528.4(MAN2B1):c.603_604del (p.Arg202fs)
|
|
|
|
NM_000528.4(MAN2B1):c.603_604dup (p.Arg202fs)
|
|
|
|
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
|
|
|
|
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)
|
rs864621979
|
|
|
NM_000528.4(MAN2B1):c.609G>A (p.Glu203=)
|
rs139290127
|
|
|
NM_000528.4(MAN2B1):c.60C>A (p.Gly20=)
|
rs754783943
|
|
|
NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)
|
|
|
|
NM_000528.4(MAN2B1):c.619C>T (p.Leu207=)
|
|
|
|
NM_000528.4(MAN2B1):c.624T>C (p.Phe208=)
|
rs374524357
|
|
|
NM_000528.4(MAN2B1):c.624dup (p.Ala209fs)
|
|
|
|
NM_000528.4(MAN2B1):c.627G>C (p.Ala209=)
|
|
|
|
NM_000528.4(MAN2B1):c.627_630+1dup
|
rs2145286437
|
|
|
NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.630+10G>A
|
rs1200800972
|
|
|
NM_000528.4(MAN2B1):c.630+12G>A
|
|
|
|
NM_000528.4(MAN2B1):c.630+14C>T
|
|
|
|
NM_000528.4(MAN2B1):c.630+5G>A
|
|
|
|
NM_000528.4(MAN2B1):c.630+7C>A
|
rs1175845932
|
|
|
NM_000528.4(MAN2B1):c.630+9C>G
|
rs756927782
|
|
|
NM_000528.4(MAN2B1):c.631-12C>T
|
|
|
|
NM_000528.4(MAN2B1):c.631-15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.631-17T>G
|
rs2145283422
|
|
|
NM_000528.4(MAN2B1):c.631-2A>C
|
|
|
|
NM_000528.4(MAN2B1):c.631-4C>G
|
|
|
|
NM_000528.4(MAN2B1):c.631-4C>T
|
rs2145283382
|
|
|
NM_000528.4(MAN2B1):c.631-4_631-3del
|
rs781749057
|
|
|
NM_000528.4(MAN2B1):c.631-6C>A
|
|
|
|
NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
|
rs886054233
|
|
|
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
|
|
|
|
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
|
|
|
|
NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)
|
|
|
|
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.660C>T (p.Arg220=)
|
rs2145283213
|
|
|
NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)
|
|
|
|
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
|
|
|
|
NM_000528.4(MAN2B1):c.666T>C (p.Asp222=)
|
|
|
|
NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)
|
rs2145294443
|
|
|
NM_000528.4(MAN2B1):c.670_671del (p.Gln224fs)
|
|
|
|
NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His)
|
rs2024165338
|
|
|
NM_000528.4(MAN2B1):c.681G>A (p.Trp227Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.686G>T (p.Arg229Leu)
|
rs574202419
|
|
|
NM_000528.4(MAN2B1):c.687G>A (p.Arg229=)
|
rs1599357346
|
|
|
NM_000528.4(MAN2B1):c.697C>T (p.Leu233=)
|
|
|
|
NM_000528.4(MAN2B1):c.708G>A (p.Glu236=)
|
|
|
|
NM_000528.4(MAN2B1):c.729C>T (p.Thr243=)
|
rs2145282936
|
|
|
NM_000528.4(MAN2B1):c.732C>T (p.Ser244=)
|
|
|
|
NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)
|
|
|
|
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg)
|
rs117843968
|
|
|
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
|
|
|
|
NM_000528.4(MAN2B1):c.750G>A (p.Ala250=)
|
|
|
|
NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
|
|
|
|
NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)
|
|
|
|
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
|
rs2024162767
|
|
|
NM_000528.4(MAN2B1):c.763+12G>C
|
|
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
|
NM_000528.4(MAN2B1):c.763+9C>A
|
|
|
|
NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
|
|
|
|
NM_000528.4(MAN2B1):c.764-11G>A
|
|
|
|
NM_000528.4(MAN2B1):c.764-14G>T
|
|
|
|
NM_000528.4(MAN2B1):c.764-16T>C
|
|
|
|
NM_000528.4(MAN2B1):c.764-1G>C
|
rs1555709533
|
|
|
NM_000528.4(MAN2B1):c.764-20G>A
|
|
|
|
NM_000528.4(MAN2B1):c.764-5T>G
|
|
|
|
NM_000528.4(MAN2B1):c.764-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.764-7C>T
|
|
|
|
NM_000528.4(MAN2B1):c.771T>A (p.Leu257=)
|
|
|
|
NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
|
|
|
|
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
|
rs2024155693
|
|
|
NM_000528.4(MAN2B1):c.783C>T (p.Tyr261=)
|
rs2024155693
|
|
|
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)
|
rs1555709511
|
|
|
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.792A>C (p.Pro264=)
|
rs2145281669
|
|
|
NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
|
|
|
|
NM_000528.4(MAN2B1):c.801G>A (p.Leu267=)
|
|
|
|
NM_000528.4(MAN2B1):c.804C>T (p.Cys268=)
|
|
|
|
NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)
|
rs1329771201
|
|
|
NM_000528.4(MAN2B1):c.810T>C (p.Asp270=)
|
rs2145281612
|
|
|
NM_000528.4(MAN2B1):c.816G>A (p.Leu272=)
|
|
|
|
NM_000528.4(MAN2B1):c.831_832delinsAG (p.Leu278Val)
|
|
|
|
NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
|
|
|
|
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
|
|
|
|
NM_000528.4(MAN2B1):c.852C>T (p.Ser284=)
|
|
|
|
NM_000528.4(MAN2B1):c.855C>G (p.Pro285=)
|
rs139218045
|
|
|
NM_000528.4(MAN2B1):c.856G>T (p.Glu286Ter)
|
|
|
|
NM_000528.4(MAN2B1):c.861C>T (p.Tyr287=)
|
rs1280139624
|
|
|
NM_000528.4(MAN2B1):c.867C>T (p.Ala289=)
|
rs2145281259
|
|
|
NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)
|
|
|
|
NM_000528.4(MAN2B1):c.879C>A (p.Val293=)
|
rs746756800
|
|
|
NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)
|
|
|
|
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
|
rs973412688
|
|
|
NM_000528.4(MAN2B1):c.885C>T (p.Tyr295=)
|
|
|
|
NM_000528.4(MAN2B1):c.888C>T (p.Phe296=)
|
rs1599356803
|
|
|
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
|
|
|
|
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)
|
rs2024151949
|
|
|
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
|
|
|
|
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
|
|
|
|
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
|
|
|
|
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
|
|
|
|
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
|
|
|
|
NM_000528.4(MAN2B1):c.909+10del
|
rs1568306887
|
|
|
NM_000528.4(MAN2B1):c.909+12G>A
|
|
|
|
NM_000528.4(MAN2B1):c.909+15C>T
|
|
|
|
NM_000528.4(MAN2B1):c.909+1G>C
|
|
|
|
NM_000528.4(MAN2B1):c.909+20C>A
|
|
|
|
NM_000528.4(MAN2B1):c.910-10T>C
|
rs2145273578
|
|
|
NM_000528.4(MAN2B1):c.910-10T>G
|
rs2145273578
|
|
|
NM_000528.4(MAN2B1):c.910-13C>G
|
|
|
|
NM_000528.4(MAN2B1):c.910-13C>T
|
|
|
|
NM_000528.4(MAN2B1):c.910-14C>T
|
|
|
|
NM_000528.4(MAN2B1):c.910-15C>A
|
|
|
|
NM_000528.4(MAN2B1):c.910-15C>G
|
|
|
|
NM_000528.4(MAN2B1):c.910-16C>T
|
|
|
|
NM_000528.4(MAN2B1):c.910-4G>T
|
rs1384001200
|
|
|
NM_000528.4(MAN2B1):c.910-6C>T
|
|
|
|
NM_000528.4(MAN2B1):c.910-7C>T
|
rs2145273567
|
|
|
NM_000528.4(MAN2B1):c.910-8G>C
|
rs2145273572
|
|
|
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
|
rs2024102051
|
|
|
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp)
|
rs202100368
|
|
|
NM_000528.4(MAN2B1):c.915G>A (p.Arg305=)
|
rs755994517
|
|
|
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
|
|
|
|
NM_000528.4(MAN2B1):c.924C>A (p.Arg308=)
|
|
|
|
NM_000528.4(MAN2B1):c.924C>T (p.Arg308=)
|
rs1168829518
|
|
|
NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)
|
rs1054487
|
|
|
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)
|
rs1054487
|
|
|
NM_000528.4(MAN2B1):c.939G>T (p.Val313=)
|
rs942342696
|
|
|
NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)
|
rs1057516972
|
|
|
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
|
|
|
|
NM_000528.4(MAN2B1):c.951C>T (p.Gly317=)
|
|
|
|
NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)
|
rs774034389
|
|
|
NM_000528.4(MAN2B1):c.954G>A (p.Ser318=)
|
|
|
|
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His)
|
rs1251243232
|
|
|
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly)
|
rs1222864490
|
|
|
NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)
|
rs778131120
|
|
|
NM_000528.4(MAN2B1):c.969del (p.Asn324fs)
|
|
|
|
NM_000528.4(MAN2B1):c.972T>C (p.Asn324=)
|
|
|
|
NM_000528.4(MAN2B1):c.975C>T (p.Ala325=)
|
|
|
|
NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)
|
rs2145272932
|
|
|
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile)
|
rs2145272922
|
|
|
NM_000528.4(MAN2B1):c.993C>T (p.Asn331=)
|
rs2145272833
|
|
|
NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)
|
|
|
|
NM_000528.4(MAN2B1):c.99G>C (p.Pro33=)
|
|
|
|
NM_000528.4(MAN2B1):c.9C>T (p.Ala3=)
|
rs1228433382
|
|
|
NM_000528.4(MAN2B1):c.9del (p.Tyr4fs)
|
rs2145294851
|
|
|
NM_000545.5(HNF1A):c.598C>T (p.Arg200Trp)
|
rs193922598
|
|
|
NM_000545.8(HNF1A):c.-119del
|
rs754470733
|
|
|
NM_000545.8(HNF1A):c.-167TGGGGGT[3]
|
rs538476099
|
|
|
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
|
|
|
|
NM_000545.8(HNF1A):c.1022del (p.Pro340_Leu341insTer)
|
rs1877096238
|
|
|
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)
|
rs1877098583
|
|
|
NM_000545.8(HNF1A):c.1114G>A (p.Ala372Thr)
|
rs587780356
|
|
|
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)
|
rs193922576
|
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
|
NM_000545.8(HNF1A):c.1136_1137del (p.Pro379fs)
|
rs1593060890
|
|
|
NM_000545.8(HNF1A):c.1136del (p.Pro379fs)
|
rs1593060859
|
|
|
NM_000545.8(HNF1A):c.1137del (p.Val380fs)
|
rs1555212248
|
|
|
NM_000545.8(HNF1A):c.1139del (p.Val380fs)
|
rs1877113317
|
|
|
NM_000545.8(HNF1A):c.1140dup (p.Ser381fs)
|
rs1593060912
|
|
|
NM_000545.8(HNF1A):c.1193A>C (p.Gln398Pro)
|
|
|
|
NM_000545.8(HNF1A):c.1193_1195delinsGGT (p.Gln398_Gln399delinsArgTer)
|
rs1593060966
|
|
|
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)
|
rs747433197
|
|
|
NM_000545.8(HNF1A):c.1264del (p.Leu422fs)
|
|
|
|
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)
|
rs193922577
|
|
|
NM_000545.8(HNF1A):c.1309+184dup
|
rs201039488
|
|
|
NM_000545.8(HNF1A):c.1309+86TCAT[6]
|
rs58371019
|
|
|
NM_000545.8(HNF1A):c.1309+86TCAT[8]
|
rs58371019
|
|
|
NM_000545.8(HNF1A):c.130del (p.Leu44fs)
|
rs193922578
|
|
|
NM_000545.8(HNF1A):c.1310-1G>A
|
rs1877168655
|
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
|
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)
|
rs776793516
|
|
|
NM_000545.8(HNF1A):c.1333_1334del (p.Ser445fs)
|
rs2135847417
|
|
|
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs)
|
rs2135847490
|
|
|
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)
|
rs1555212359
|
|
|
NM_000545.8(HNF1A):c.1369_1384dup (p.Val462fs)
|
rs2135847592
|
|
|
NM_000545.8(HNF1A):c.1378C>T (p.Gln460Ter)
|
rs1555212363
|
|
|
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
|
rs544842497
|
|
|
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)
|
rs1877175078
|
|
|
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs)
|
rs2135819737
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
|
NM_000545.8(HNF1A):c.142del (p.Glu48fs)
|
rs1566092470
|
|
|
NM_000545.8(HNF1A):c.1456del (p.Gln486fs)
|
|
|
|
NM_000545.8(HNF1A):c.1463_1473del (p.Pro488fs)
|
rs1877180449
|
|
|
NM_000545.8(HNF1A):c.1464C>G (p.Pro488=)
|
rs765827203
|
|
|
NM_000545.8(HNF1A):c.1469T>G (p.Met490Arg)
|
|
|
|
NM_000545.8(HNF1A):c.1483C>T (p.Gln495Ter)
|
rs1565887211
|
|
|
NM_000545.8(HNF1A):c.1487_1494del (p.Leu496fs)
|
|
|
|
NM_000545.8(HNF1A):c.1489C>T (p.Gln497Ter)
|
rs1555212396
|
|
|
NM_000545.8(HNF1A):c.1494C>T (p.Ser498=)
|
rs138145827
|
|
|
NM_000545.8(HNF1A):c.1501+1G>A
|
rs1131692182
|
|
|
NM_000545.8(HNF1A):c.1501+4A>G
|
|
|
|
NM_000545.8(HNF1A):c.1501+5G>C
|
rs1399164820
|
|
|
NM_000545.8(HNF1A):c.1502-6G>A
|
rs1458430820
|
|
|
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
|
rs193922582
|
|
|
NM_000545.8(HNF1A):c.150C>A (p.Cys50Ter)
|
|
|
|
NM_000545.8(HNF1A):c.1516_1624-30del
|
rs1592897526
|
|
|
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp)
|
rs1877291173
|
|
|
NM_000545.8(HNF1A):c.152G>A (p.Gly51Asp)
|
rs776710848
|
|
|
NM_000545.8(HNF1A):c.1531C>G (p.Gln511Glu)
|
rs551484245
|
|
|
NM_000545.8(HNF1A):c.1541dup (p.His514fs)
|
rs1877293842
|
|
|
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
|
|
|
|
NM_000545.8(HNF1A):c.1548C>T (p.Gly516=)
|
rs886038346
|
|
|
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
|
rs587778393
|
|
|
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)
|
rs1421619915
|
|
|
NM_000545.8(HNF1A):c.1602C>T (p.Ala534=)
|
|
|
|
NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly)
|
rs766956862
|
|
|
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
|
|
|
NM_000545.8(HNF1A):c.1611G>A (p.Thr537=)
|
|
|
|
NM_000545.8(HNF1A):c.1614_1617del (p.Thr539fs)
|
|
|
|
NM_000545.8(HNF1A):c.1623+16G>A
|
rs1555212572
|
|
|
NM_000545.8(HNF1A):c.1623+1G>T
|
|
|
|
NM_000545.8(HNF1A):c.1623+3A>G
|
rs886038347
|
|
|
NM_000545.8(HNF1A):c.1623G>A (p.Gln541=)
|
|
|
|
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
|
|
|
|
NM_000545.8(HNF1A):c.1624-2A>G
|
rs1877309778
|
|
|
NM_000545.8(HNF1A):c.1637_1647del (p.Asp546fs)
|
|
|
|
NM_000545.8(HNF1A):c.1671G>A (p.Thr557=)
|
|
|
|
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)
|
rs1877313665
|
|
|
NM_000545.8(HNF1A):c.169del (p.Leu57fs)
|
rs193922588
|
|
|
NM_000545.8(HNF1A):c.1719C>T (p.Ala573=)
|
|
|
|
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
|
|
|
|
NM_000545.8(HNF1A):c.1726C>T (p.Gln576Ter)
|
|
|
|
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
|
|
|
NM_000545.8(HNF1A):c.1728G>A (p.Gln576=)
|
|
|
|
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)
|
rs1877319456
|
|
|
NM_000545.8(HNF1A):c.1733del (p.Leu578fs)
|
rs1592898227
|
|
|
NM_000545.8(HNF1A):c.1740G>A (p.Pro580=)
|
|
|
|
NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG
|
|
|
|
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)
|
rs137853239
|
|
|
NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)
|
rs1592898255
|
|
|
NM_000545.8(HNF1A):c.1749G>C (p.Arg583=)
|
|
|
|
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
|
|
|
|
NM_000545.8(HNF1A):c.1768+11C>T
|
rs886049034
|
|
|
NM_000545.8(HNF1A):c.1768+1G>A
|
rs1877324101
|
|
|
NM_000545.8(HNF1A):c.1768+65del
|
rs193922590
|
|
|
NM_000545.8(HNF1A):c.1768+65dup
|
rs193922590
|
|
|
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile)
|
rs2135854451
|
|
|
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)
|
rs1555212747
|
|
|
NM_000545.8(HNF1A):c.1822_1829del (p.Ser608fs)
|
rs1555212749
|
|
|
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
|
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
|
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile)
|
rs137853241
|
|
|
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
|
|
|
|
NM_000545.8(HNF1A):c.194G>A (p.Gly65Glu)
|
rs2135819938
|
|
|
NM_000545.8(HNF1A):c.19C>T (p.Gln7Ter)
|
rs1566092307
|
|
|
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)
|
rs193922592
|
|
|
NM_000545.8(HNF1A):c.204G>A (p.Arg68=)
|
|
|
|
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
|
|
|
|
NM_000545.8(HNF1A):c.242T>C (p.Phe81Ser)
|
rs1565880245
|
|
|
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)
|
rs1876081310
|
|
|
NM_000545.8(HNF1A):c.26A>T (p.Gln9Leu)
|
rs1876081310
|
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
|
NM_000545.8(HNF1A):c.283G>A (p.Glu95Lys)
|
rs1555210473
|
|
|
NM_000545.8(HNF1A):c.2T>C (p.Met1Thr)
|
rs2135819325
|
|
|
NM_000545.8(HNF1A):c.306C>T (p.Ala102=)
|
rs1486966222
|
|
|
NM_000545.8(HNF1A):c.30G>T (p.Thr10=)
|
rs746020457
|
|
|
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
|
rs193922594
|
|
|
NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)
|
rs2135820413
|
|
|
NM_000545.8(HNF1A):c.326+2T>G
|
rs1555210478
|
|
|
NM_000545.8(HNF1A):c.326+4A>G
|
rs193922595
|
|
|
NM_000545.8(HNF1A):c.327-14T>C
|
rs886049033
|
|
|
NM_000545.8(HNF1A):c.327-3_327-1del
|
rs1593054210
|
|
|
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu)
|
rs137853243
|
|
|
NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter)
|
rs2135832456
|
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
|
|
|
NM_000545.8(HNF1A):c.347C>T (p.Ala116Val)
|
|
|
|
NM_000545.8(HNF1A):c.348G>A (p.Ala116=)
|
|
|
|
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile)
|
rs1179591039
|
|
|
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
|
|
|
|
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys)
|
rs137853237
|
|
|
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val)
|
rs1876669134
|
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
|
NM_000545.8(HNF1A):c.370C>T (p.Gln124Ter)
|
rs1565883507
|
|
|
NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter)
|
|
|
|
NM_000545.8(HNF1A):c.388C>T (p.Gln130Ter)
|
rs1876669962
|
|
|
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp)
|
rs137853244
|
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
|
NM_000545.8(HNF1A):c.404A>C (p.Asp135Ala)
|
rs1876671395
|
|
|
NM_000545.8(HNF1A):c.404del (p.Asp135fs)
|
rs2135832632
|
|
|
NM_000545.8(HNF1A):c.408C>G (p.Thr136=)
|
|
|
|
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
|
|
|
|
NM_000545.8(HNF1A):c.434C>T (p.Ser145Phe)
|
rs1555211426
|
|
|
NM_000545.8(HNF1A):c.43G>A (p.Ala15Thr)
|
rs1265717222
|
|
|
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
|
rs193922597
|
|
|
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp)
|
rs1565883574
|
|
|
NM_000545.8(HNF1A):c.467C>A (p.Thr156Lys)
|
rs150513055
|
|
|
NM_000545.8(HNF1A):c.475C>T (p.Arg159Trp)
|
rs765432081
|
|
|
NM_000545.8(HNF1A):c.476G>A (p.Arg159Gln)
|
rs1172328722
|
|
|
NM_000545.8(HNF1A):c.478del (p.Ala160fs)
|
|
|
|
NM_000545.8(HNF1A):c.485T>C (p.Leu162Pro)
|
rs1555211434
|
|
|
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro)
|
rs772597940
|
|
|
NM_000545.8(HNF1A):c.492C>G (p.Thr164=)
|
|
|
|
NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter)
|
rs1555211436
|
|
|
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
|
|
|
|
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
|
|
|
|
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=)
|
rs1876675633
|
|
|
NM_000545.8(HNF1A):c.4del (p.Val2fs)
|
rs1555260207
|
|
|
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly)
|
rs1057520291
|
|
|
NM_000545.8(HNF1A):c.511C>T (p.Arg171Ter)
|
rs1057520291
|
|
|
NM_000545.8(HNF1A):c.518_526+37del
|
rs386134267
|
|
|
NM_000545.8(HNF1A):c.519G>A (p.Val173=)
|
rs534301078
|
|
|
NM_000545.8(HNF1A):c.523C>T (p.Gln175Ter)
|
|
|
|
NM_000545.8(HNF1A):c.526+1G>A
|
rs1364708195
|
|
|
NM_000545.8(HNF1A):c.526+1G>T
|
|
|
|
NM_000545.8(HNF1A):c.526+2dup
|
rs1555211448
|
|
|
NM_000545.8(HNF1A):c.526+5G>A
|
|
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
|
NM_000545.8(HNF1A):c.527-1G>A
|
rs1555211904
|
|
|
NM_000545.8(HNF1A):c.527-1G>C
|
|
|
|
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)
|
rs1876084046
|
|
|
NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_000545.8(HNF1A):c.55T>G (p.Ser19Ala)
|
rs1064793150
|
|
|
NM_000545.8(HNF1A):c.56C>T (p.Ser19Leu)
|
rs1876084584
|
|
|
NM_000545.8(HNF1A):c.586del (p.Thr196fs)
|
rs1565885524
|
|
|
NM_000545.8(HNF1A):c.587_590del (p.Thr196fs)
|
rs2135839114
|
|
|
NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)
|
rs1249563793
|
|
|
NM_000545.8(HNF1A):c.598C>A (p.Arg200=)
|
rs193922598
|
|
|
NM_000545.8(HNF1A):c.607C>A (p.Arg203Ser)
|
rs1180119907
|
|
|
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)
|
rs1180119907
|
|
|
NM_000545.8(HNF1A):c.60G>C (p.Gly20=)
|
rs1449504165
|
|
|
NM_000545.8(HNF1A):c.60G>T (p.Gly20=)
|
rs1449504165
|
|
|
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg)
|
rs1057524898
|
|
|
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp)
|
rs1555211922
|
|
|
NM_000545.8(HNF1A):c.639C>A (p.Ile213=)
|
rs768753432
|
|
|
NM_000545.8(HNF1A):c.661C>T (p.Gln221Ter)
|
rs2135839643
|
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
|
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)
|
rs193922600
|
|
|
NM_000545.8(HNF1A):c.676_678del (p.Lys226del)
|
rs1555211927
|
|
|
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu)
|
rs1876937295
|
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
|
NM_000545.8(HNF1A):c.686G>A (p.Arg229Gln)
|
rs1057520779
|
|
|
NM_000545.8(HNF1A):c.694dup (p.Leu232fs)
|
rs1057524908
|
|
|
NM_000545.8(HNF1A):c.695T>C (p.Leu232Pro)
|
|
|
|
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)
|
rs1353807357
|
|
|
NM_000545.8(HNF1A):c.704A>G (p.Glu235Gly)
|
rs1593058338
|
|
|
NM_000545.8(HNF1A):c.710A>C (p.Asn237Thr)
|
rs1555211935
|
|
|
NM_000545.8(HNF1A):c.711T>C (p.Asn237=)
|
|
|
|
NM_000545.8(HNF1A):c.713+10C>T
|
|
|
|
NM_000545.8(HNF1A):c.714-1G>A
|
rs1463923467
|
|
|
NM_000545.8(HNF1A):c.717G>A (p.Ala239=)
|
|
|
|
NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)
|
rs1555211975
|
|
|
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)
|
rs193922602
|
|
|
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg)
|
rs2135841196
|
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
|
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala)
|
rs2135841238
|
|
|
NM_000545.8(HNF1A):c.737T>G (p.Val246Gly)
|
rs2135841238
|
|
|
NM_000545.8(HNF1A):c.73G>A (p.Ala25Thr)
|
rs587778394
|
|
|
NM_000545.8(HNF1A):c.748C>T (p.Gln250Ter)
|
rs1308016430
|
|
|
NM_000545.8(HNF1A):c.749A>C (p.Gln250Pro)
|
rs1555211982
|
|
|
NM_000545.8(HNF1A):c.765C>G (p.Gly255=)
|
rs757910486
|
|
|
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe)
|
rs1555211986
|
|
|
NM_000545.8(HNF1A):c.779C>T (p.Thr260Met)
|
rs886039544
|
|
|
NM_000545.8(HNF1A):c.781G>A (p.Glu261Lys)
|
rs2135841592
|
|
|
NM_000545.8(HNF1A):c.788G>A (p.Arg263His)
|
rs1057520504
|
|
|
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
|
rs193922604
|
|
|
NM_000545.8(HNF1A):c.790_791del (p.Val264fs)
|
rs1555211999
|
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
|
NM_000545.8(HNF1A):c.801_802insGGG (p.Trp267_Phe268insGly)
|
rs1555212009
|
|
|
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
|
rs193922605
|
|
|
NM_000545.8(HNF1A):c.805G>T (p.Ala269Ser)
|
rs1426548804
|
|
|
NM_000545.8(HNF1A):c.811C>G (p.Arg271Gly)
|
rs886039386
|
|
|
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)
|
rs886039386
|
|
|
NM_000545.8(HNF1A):c.814C>T (p.Arg272Cys)
|
rs1555212014
|
|
|
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
|
rs137853238
|
|
|
NM_000545.8(HNF1A):c.817A>C (p.Lys273Gln)
|
rs1555212016
|
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
|
NM_000545.8(HNF1A):c.823G>A (p.Glu275Lys)
|
rs2135841942
|
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
|
NM_000545.8(HNF1A):c.830del (p.Phe277fs)
|
|
|
|
NM_000545.8(HNF1A):c.837C>T (p.His279=)
|
|
|
|
NM_000545.8(HNF1A):c.843G>C (p.Leu281=)
|
|
|
|
NM_000545.8(HNF1A):c.85G>C (p.Ala29Pro)
|
rs1876087643
|
|
|
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)
|
rs539507291
|
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
|
NM_000545.8(HNF1A):c.864_897del (p.Pro290fs)
|
rs1565885935
|
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
|
NM_000545.8(HNF1A):c.864delinsCC (p.Gly292fs)
|
rs1593058932
|
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
|
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)
|
rs267603343
|
|
|
NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu)
|
rs267603343
|
|
|
NM_000545.8(HNF1A):c.867C>A (p.Pro289=)
|
|
|
|
NM_000545.8(HNF1A):c.870C>T (p.Pro290=)
|
rs779008957
|
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
|
NM_000545.8(HNF1A):c.872del (p.Pro291fs)
|
rs587776825
|
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
|
NM_000545.8(HNF1A):c.876del (p.Pro293fs)
|
rs2135842335
|
|
|
NM_000545.8(HNF1A):c.944G>C (p.Ser315Thr)
|
rs1298749678
|
|
|
NM_000545.8(HNF1A):c.955+2T>C
|
|
|
|
NM_000545.8(HNF1A):c.955+2dup
|
|
|
|
NM_000545.8(HNF1A):c.955+5G>C
|
|
|
|
NM_000545.8(HNF1A):c.956-1G>A
|
rs1565886545
|
|
|
NM_000545.8(HNF1A):c.956-1G>C
|
rs1565886545
|
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
|
NM_000545.8(HNF1A):c.998_1013del (p.Val333fs)
|
|
|
|
NM_000642.2(AGL):c.84delG
|
rs1553183148
|
|
|
NM_000642.2(AGL):c.[1283G>A];[611T>A]
|
|
|
|
NM_000642.3(AGL):c.*105T>C
|
rs886044924
|
|
|
NM_000642.3(AGL):c.*1817G>A
|
rs1247253899
|
|
|
NM_000642.3(AGL):c.*1T>A
|
rs1422276999
|
|
|
NM_000642.3(AGL):c.*615A>G
|
rs1655565207
|
|
|
NM_000642.3(AGL):c.*83C>G
|
rs1655526406
|
|
|
NM_000642.3(AGL):c.-69+1G>C
|
rs1413359590
|
|
|
NM_000642.3(AGL):c.-82A>G
|
rs1648854148
|
|
|
NM_000642.3(AGL):c.1000dup (p.Thr334fs)
|
rs1553185302
|
|
|
NM_000642.3(AGL):c.1001C>T (p.Thr334Met)
|
rs140348042
|
|
|
NM_000642.3(AGL):c.1002G>T (p.Thr334=)
|
|
|
|
NM_000642.3(AGL):c.1002_1005dup (p.Ile336fs)
|
|
|
|
NM_000642.3(AGL):c.1006A>G (p.Ile336Val)
|
rs1651355891
|
|
|
NM_000642.3(AGL):c.100del (p.Arg34fs)
|
|
|
|
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
|
rs1651356099
|
|
|
NM_000642.3(AGL):c.1017T>G (p.Pro339=)
|
|
|
|
NM_000642.3(AGL):c.1017del (p.Glu340fs)
|
|
|
|
NM_000642.3(AGL):c.1020del (p.Glu340fs)
|
rs1651357012
|
|
|
NM_000642.3(AGL):c.1022A>G (p.Tyr341Cys)
|
rs1651357240
|
|
|
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly)
|
rs1216156102
|
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
|
NM_000642.3(AGL):c.1029G>A (p.Arg343=)
|
|
|
|
NM_000642.3(AGL):c.1029G>C (p.Arg343=)
|
|
|
|
NM_000642.3(AGL):c.102A>T (p.Arg34=)
|
rs2101084521
|
|
|
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter)
|
rs1651358664
|
|
|
NM_000642.3(AGL):c.1039A>G (p.Thr347Ala)
|
|
|
|
NM_000642.3(AGL):c.1041dup (p.Val348fs)
|
rs2101126325
|
|
|
NM_000642.3(AGL):c.1044A>G (p.Val348=)
|
rs2101126342
|
|
|
NM_000642.3(AGL):c.1049T>A (p.Met350Lys)
|
|
|
|
NM_000642.3(AGL):c.1049T>G (p.Met350Arg)
|
rs761122742
|
|
|
NM_000642.3(AGL):c.104T>G (p.Leu35Ter)
|
rs1057516567
|
|
|
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
|
rs1651360894
|
|
|
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys)
|
rs557516658
|
|
|
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
|
rs746977667
|
|
|
NM_000642.3(AGL):c.106G>C (p.Gly36Arg)
|
|
|
|
NM_000642.3(AGL):c.1072A>G (p.Ile358Val)
|
rs923537550
|
|
|
NM_000642.3(AGL):c.1074A>T (p.Ile358=)
|
rs1651363104
|
|
|
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)
|
rs750705888
|
|
|
NM_000642.3(AGL):c.1077A>G (p.Pro359=)
|
|
|
|
NM_000642.3(AGL):c.1080T>C (p.His360=)
|
rs2101126484
|
|
|
NM_000642.3(AGL):c.1082+10G>C
|
|
|
|
NM_000642.3(AGL):c.1082+10G>T
|
rs190435682
|
|
|
NM_000642.3(AGL):c.1082+10dup
|
|
|
|
NM_000642.3(AGL):c.1082+12G>A
|
|
|
|
NM_000642.3(AGL):c.1082+12G>T
|
|
|
|
NM_000642.3(AGL):c.1082+12_1082+13del
|
|
|
|
NM_000642.3(AGL):c.1082+17T>C
|
|
|
|
NM_000642.3(AGL):c.1082+19T>C
|
|
|
|
NM_000642.3(AGL):c.1082+19dup
|
|
|
|
NM_000642.3(AGL):c.1082+3A>G
|
rs757095271
|
|
|
NM_000642.3(AGL):c.1082+8A>T
|
rs1375533728
|
|
|
NM_000642.3(AGL):c.1083-1G>A
|
|
|
|
NM_000642.3(AGL):c.1083-20C>T
|
|
|
|
NM_000642.3(AGL):c.1083-2A>G
|
rs1570433472
|
|
|
NM_000642.3(AGL):c.1083-4C>T
|
rs750423236
|
|
|
NM_000642.3(AGL):c.1083-5T>C
|
rs767354759
|
|
|
NM_000642.3(AGL):c.1083-7G>A
|
rs2101127601
|
|
|
NM_000642.3(AGL):c.1083-8del
|
|
|
|
NM_000642.3(AGL):c.1083-9C>T
|
|
|
|
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)
|
rs928357712
|
|
|
NM_000642.3(AGL):c.1086G>T (p.Lys362Asn)
|
rs1360892895
|
|
|
NM_000642.3(AGL):c.1091del (p.Pro364fs)
|
|
|
|
NM_000642.3(AGL):c.1092A>G (p.Pro364=)
|
rs2101127685
|
|
|
NM_000642.3(AGL):c.1095A>G (p.Ala365=)
|
|
|
|
NM_000642.3(AGL):c.1096G>A (p.Ala366Thr)
|
|
|
|
NM_000642.3(AGL):c.1098A>G (p.Ala366=)
|
|
|
|
NM_000642.3(AGL):c.1102del (p.Glu368fs)
|
rs1553185403
|
|
|
NM_000642.3(AGL):c.1107A>G (p.Glu369=)
|
rs2101127756
|
|
|
NM_000642.3(AGL):c.1107del (p.Glu369fs)
|
|
|
|
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter)
|
rs1651407980
|
|
|
NM_000642.3(AGL):c.1113dup (p.Asn372Ter)
|
|
|
|
NM_000642.3(AGL):c.1115del (p.Asn372fs)
|
|
|
|
NM_000642.3(AGL):c.1119G>T (p.Trp373Cys)
|
|
|
|
NM_000642.3(AGL):c.111A>G (p.Pro37=)
|
|
|
|
NM_000642.3(AGL):c.112A>T (p.Thr38Ser)
|
|
|
|
NM_000642.3(AGL):c.1138G>A (p.Glu380Lys)
|
|
|
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
|
|
NM_000642.3(AGL):c.113C>G (p.Thr38Ser)
|
rs1557746521
|
|
|
NM_000642.3(AGL):c.1140A>G (p.Glu380=)
|
rs1361797793
|
|
|
NM_000642.3(AGL):c.1142_1150del (p.Leu381_Glu384delinsTer)
|
|
|
|
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
|
|
|
|
NM_000642.3(AGL):c.1155G>A (p.Lys385=)
|
rs28730701
|
|
|
NM_000642.3(AGL):c.1156C>T (p.His386Tyr)
|
|
|
|
NM_000642.3(AGL):c.1158T>C (p.His386=)
|
rs2101127937
|
|
|
NM_000642.3(AGL):c.1159C>T (p.Arg387Ter)
|
rs1553185418
|
|
|
NM_000642.3(AGL):c.1164C>T (p.Leu388=)
|
|
|
|
NM_000642.3(AGL):c.1166T>A (p.Ile389Asn)
|
rs2101127992
|
|
|
NM_000642.3(AGL):c.1169_1172del (p.Asn390fs)
|
rs1057516741
|
|
|
NM_000642.3(AGL):c.1173T>C (p.Tyr391=)
|
rs2101128035
|
|
|
NM_000642.3(AGL):c.1175del (p.His392fs)
|
rs2101128055
|
|
|
NM_000642.3(AGL):c.117A>G (p.Leu39=)
|
rs998519383
|
|
|
NM_000642.3(AGL):c.1180G>T (p.Glu394Ter)
|
rs1570433686
|
|
|
NM_000642.3(AGL):c.1182A>G (p.Glu394=)
|
rs749678945
|
|
|
NM_000642.3(AGL):c.1183C>T (p.Gln395Ter)
|
|
|
|
NM_000642.3(AGL):c.1185+10A>G
|
|
|
|
NM_000642.3(AGL):c.1185+11T>C
|
|
|
|
NM_000642.3(AGL):c.1185+18A>G
|
|
|
|
NM_000642.3(AGL):c.1185+1G>A
|
rs1057516948
|
|
|
NM_000642.3(AGL):c.1185+7C>T
|
|
|
|
NM_000642.3(AGL):c.1185+8T>A
|
rs202105587
|
|
|
NM_000642.3(AGL):c.1185+8T>C
|
rs202105587
|
|
|
NM_000642.3(AGL):c.1185G>A (p.Gln395=)
|
|
|
|
NM_000642.3(AGL):c.1186-13T>C
|
|
|
|
NM_000642.3(AGL):c.1186-16A>G
|
|
|
|
NM_000642.3(AGL):c.1186-17A>G
|
|
|
|
NM_000642.3(AGL):c.1186-19A>T
|
|
|
|
NM_000642.3(AGL):c.1186-3C>G
|
rs1651432625
|
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
|
NM_000642.3(AGL):c.1194T>C (p.Asn398=)
|
rs771739331
|
|
|
NM_000642.3(AGL):c.1197C>T (p.Cys399=)
|
rs928269107
|
|
|
NM_000642.3(AGL):c.1201T>C (p.Leu401=)
|
|
|
|
NM_000642.3(AGL):c.1211T>C (p.Val404Ala)
|
|
|
|
NM_000642.3(AGL):c.1215T>C (p.Phe405=)
|
|
|
|
NM_000642.3(AGL):c.1218T>G (p.Tyr406Ter)
|
|
|
|
NM_000642.3(AGL):c.121G>T (p.Gly41Ter)
|
rs1553183178
|
|
|
NM_000642.3(AGL):c.1220A>G (p.Glu407Gly)
|
|
|
|
NM_000642.3(AGL):c.1223G>A (p.Arg408Gln)
|
|
|
|
NM_000642.3(AGL):c.1225C>T (p.Leu409=)
|
rs1454484326
|
|
|
NM_000642.3(AGL):c.1227G>T (p.Leu409=)
|
|
|
|
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
|
|
|
|
NM_000642.3(AGL):c.1230T>C (p.Ala410=)
|
|
|
|
NM_000642.3(AGL):c.1230_1233del (p.Gly411fs)
|
rs1553185474
|
|
|
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
|
rs1651438326
|
|
|
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
|
rs767865657
|
|
|
NM_000642.3(AGL):c.1238G>A (p.Gly413Asp)
|
|
|
|
NM_000642.3(AGL):c.1239T>G (p.Gly413=)
|
|
|
|
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
|
rs758882822
|
|
|
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter)
|
rs2101128697
|
|
|
NM_000642.3(AGL):c.1245A>G (p.Lys415=)
|
|
|
|
NM_000642.3(AGL):c.1252C>A (p.Pro418Thr)
|
rs2101128717
|
|
|
NM_000642.3(AGL):c.1253dup (p.Val419fs)
|
|
|
|
NM_000642.3(AGL):c.1258_1265del (p.Thr420fs)
|
|
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
|
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn)
|
rs1553185488
|
|
|
NM_000642.3(AGL):c.1267C>T (p.His423Tyr)
|
|
|
|
NM_000642.3(AGL):c.1269T>C (p.His423=)
|
|
|
|
NM_000642.3(AGL):c.1276G>A (p.Val426Ile)
|
|
|
|
NM_000642.3(AGL):c.1282A>G (p.Arg428Gly)
|
rs886039883
|
|
|
NM_000642.3(AGL):c.1283+13T>C
|
|
|
|
NM_000642.3(AGL):c.1283+13del
|
rs2101128921
|
|
|
NM_000642.3(AGL):c.1283+14_1283+17del
|
|
|
|
NM_000642.3(AGL):c.1283+15T>C
|
|
|
|
NM_000642.3(AGL):c.1283+19_1283+22del
|
|
|
|
NM_000642.3(AGL):c.1283+22dup
|
rs775216906
|
|
|
NM_000642.3(AGL):c.1283+2T>C
|
|
|
|
NM_000642.3(AGL):c.1283+8A>C
|
rs933362509
|
|
|
NM_000642.3(AGL):c.1283+9T>C
|
|
|
|
NM_000642.3(AGL):c.1284-15A>T
|
|
|
|
NM_000642.3(AGL):c.1284-1G>A
|
|
|
|
NM_000642.3(AGL):c.1284-2A>G
|
rs1651536973
|
|
|
NM_000642.3(AGL):c.1284-3T>C
|
|
|
|
NM_000642.3(AGL):c.1284-4A>T
|
rs372612377
|
|
|
NM_000642.3(AGL):c.1284-5C>T
|
rs2101131895
|
|
|
NM_000642.3(AGL):c.1284G>A (p.Arg428=)
|
rs1651537285
|
|
|
NM_000642.3(AGL):c.1296C>T (p.Phe432=)
|
|
|
|
NM_000642.3(AGL):c.1298_1299del (p.Pro433fs)
|
|
|
|
NM_000642.3(AGL):c.1299A>G (p.Pro433=)
|
rs760818372
|
|
|
NM_000642.3(AGL):c.12T>C (p.Ser4=)
|
rs2101053449
|
|
|
NM_000642.3(AGL):c.1302T>C (p.Phe434=)
|
rs1553185651
|
|
|
NM_000642.3(AGL):c.1308G>C (p.Glu436Asp)
|
rs2101132003
|
|
|
NM_000642.3(AGL):c.1309A>G (p.Ile437Val)
|
|
|
|
NM_000642.3(AGL):c.1311A>G (p.Ile437Met)
|
|
|
|
NM_000642.3(AGL):c.1311A>T (p.Ile437=)
|
|
|
|
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
|
rs149771710
|
|
|
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe)
|
rs149771710
|
|
|
NM_000642.3(AGL):c.1320C>A (p.Ser440=)
|
|
|
|
NM_000642.3(AGL):c.1320C>T (p.Ser440=)
|
rs267597890
|
|
|
NM_000642.3(AGL):c.1322T>C (p.Met441Thr)
|
|
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
|
NM_000642.3(AGL):c.1338T>G (p.Ile446Met)
|
|
|
|
NM_000642.3(AGL):c.133dup (p.Thr45fs)
|
|
|
|
NM_000642.3(AGL):c.1341T>C (p.His447=)
|
|
|
|
NM_000642.3(AGL):c.1347A>G (p.Pro449=)
|
rs777389017
|
|
|
NM_000642.3(AGL):c.1351A>G (p.Lys451Glu)
|
|
|
|
NM_000642.3(AGL):c.135C>G (p.Thr45=)
|
|
|
|
NM_000642.3(AGL):c.136G>A (p.Val46Met)
|
rs762935611
|
|
|
NM_000642.3(AGL):c.136G>C (p.Val46Leu)
|
|
|
|
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
|
rs762935611
|
|
|
NM_000642.3(AGL):c.1375_1378del (p.Asn459fs)
|
rs1651548991
|
|
|
NM_000642.3(AGL):c.1377T>C (p.Asn459=)
|
rs2101132309
|
|
|
NM_000642.3(AGL):c.1379G>A (p.Gly460Glu)
|
|
|
|
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
|
rs1651550127
|
|
|
NM_000642.3(AGL):c.1383G>A (p.Trp461Ter)
|
rs2101132362
|
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
|
NM_000642.3(AGL):c.1386A>G (p.Val462=)
|
|
|
|
NM_000642.3(AGL):c.1391dup (p.Asp465fs)
|
rs786204616
|
|
|
NM_000642.3(AGL):c.1392A>G (p.Gly464=)
|
|
|
|
NM_000642.3(AGL):c.1395T>G (p.Asp465Glu)
|
|
|
|
NM_000642.3(AGL):c.1400del (p.Pro467fs)
|
rs1057516913
|
|
|
NM_000642.3(AGL):c.1405C>G (p.Arg469Gly)
|
rs766536350
|
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
|
NM_000642.3(AGL):c.1406G>A (p.Arg469Gln)
|
|
|
|
NM_000642.3(AGL):c.140dup (p.Tyr47Ter)
|
rs1057517347
|
|
|
NM_000642.3(AGL):c.1413T>C (p.Phe471=)
|
rs2101132549
|
|
|
NM_000642.3(AGL):c.1413_1416del (p.Phe471fs)
|
|
|
|
NM_000642.3(AGL):c.1416T>C (p.Ala472=)
|
rs765766800
|
|
|
NM_000642.3(AGL):c.1416T>G (p.Ala472=)
|
|
|
|
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter)
|
rs1651556356
|
|
|
NM_000642.3(AGL):c.141T>C (p.Tyr47=)
|
|
|
|
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg)
|
rs146493448
|
|
|
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu)
|
rs146493448
|
|
|
NM_000642.3(AGL):c.1423+10T>C
|
|
|
|
NM_000642.3(AGL):c.1423+12_1423+13del
|
rs2101132679
|
|
|
NM_000642.3(AGL):c.1423+19C>T
|
|
|
|
NM_000642.3(AGL):c.1423+1G>A
|
|
|
|
NM_000642.3(AGL):c.1423+1G>C
|
rs751952198
|
|
|
NM_000642.3(AGL):c.1423+1G>T
|
rs751952198
|
|
|
NM_000642.3(AGL):c.1424-11T>C
|
|
|
|
NM_000642.3(AGL):c.1424-13C>T
|
|
|
|
NM_000642.3(AGL):c.1424-14T>A
|
|
|
|
NM_000642.3(AGL):c.1424-8C>T
|
rs775943758
|
|
|
NM_000642.3(AGL):c.1424-9T>A
|
|
|
|
NM_000642.3(AGL):c.1424-9dup
|
|
|
|
NM_000642.3(AGL):c.1424G>A (p.Gly475Asp)
|
|
|
|
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
|
|
|
|
NM_000642.3(AGL):c.1428A>G (p.Ser476=)
|
|
|
|
NM_000642.3(AGL):c.1431A>C (p.Glu477Asp)
|
|
|
|
NM_000642.3(AGL):c.1432G>C (p.Val478Leu)
|
|
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
|
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
|
|
|
|
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
|
|
|
|
NM_000642.3(AGL):c.1450C>A (p.Leu484Ile)
|
|
|
|
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
|
rs1651660863
|
|
|
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)
|
rs1557760604
|
|
|
NM_000642.3(AGL):c.1460G>T (p.Trp487Leu)
|
rs2101136214
|
|
|
NM_000642.3(AGL):c.1462G>A (p.Gly488Arg)
|
|
|
|
NM_000642.3(AGL):c.1463G>C (p.Gly488Ala)
|
|
|
|
NM_000642.3(AGL):c.1467C>G (p.Asp489Glu)
|
|
|
|
NM_000642.3(AGL):c.1468_1469del (p.Ser490fs)
|
|
|
|
NM_000642.3(AGL):c.1476A>G (p.Lys492=)
|
|
|
|
NM_000642.3(AGL):c.1482C>A (p.Arg494=)
|
rs781451112
|
|
|
NM_000642.3(AGL):c.1489A>G (p.Asn497Asp)
|
|
|
|
NM_000642.3(AGL):c.148dup (p.Tyr50fs)
|
|
|
|
NM_000642.3(AGL):c.1494del (p.Lys498fs)
|
|
|
|
NM_000642.3(AGL):c.1497_1500dup (p.Asp501fs)
|
rs1204840140
|
|
|
NM_000642.3(AGL):c.1497del (p.Glu500fs)
|
|
|
|
NM_000642.3(AGL):c.1503C>T (p.Asp501=)
|
|
|
|
NM_000642.3(AGL):c.1505_1514del (p.Cys502fs)
|
rs2101136443
|
|
|
NM_000642.3(AGL):c.1509T>G (p.Pro503=)
|
|
|
|
NM_000642.3(AGL):c.1513dup (p.Leu505fs)
|
|
|
|
NM_000642.3(AGL):c.1515C>G (p.Leu505=)
|
|
|
|
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
|
|
|
|
NM_000642.3(AGL):c.1521A>G (p.Ala507=)
|
|
|
|
NM_000642.3(AGL):c.1524C>T (p.His508=)
|
rs1428902524
|
|
|
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
|
rs1367177057
|
|
|
NM_000642.3(AGL):c.1533A>G (p.Lys511=)
|
|
|
|
NM_000642.3(AGL):c.1533dup (p.Tyr512fs)
|
rs776733170
|
|
|
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
|
|
|
|
NM_000642.3(AGL):c.1536_1545del (p.Lys511_Tyr512insTer)
|
rs1553185883
|
|
|
NM_000642.3(AGL):c.1537_1538del (p.Tyr512_Thr513insTer)
|
rs2101136597
|
|
|
NM_000642.3(AGL):c.1543A>C (p.Ile515Leu)
|
|
|
|
NM_000642.3(AGL):c.1543A>G (p.Ile515Val)
|
|
|
|
NM_000642.3(AGL):c.1549G>C (p.Ala517Pro)
|
|
|
|
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
|
rs1651672111
|
|
|
NM_000642.3(AGL):c.1557T>C (p.Tyr519=)
|
rs2101136695
|
|
|
NM_000642.3(AGL):c.1560C>T (p.Phe520=)
|
rs778983440
|
|
|
NM_000642.3(AGL):c.1565del (p.Gly522fs)
|
rs1570438459
|
|
|
NM_000642.3(AGL):c.1572T>A (p.Arg524=)
|
|
|
|
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser)
|
rs1570438541
|
|
|
NM_000642.3(AGL):c.1587C>T (p.His529=)
|
|
|
|
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter)
|
rs1553185905
|
|
|
NM_000642.3(AGL):c.158del (p.Pro53fs)
|
rs1650040391
|
|
|
NM_000642.3(AGL):c.1592C>G (p.Thr531Arg)
|
rs2101136921
|
|
|
NM_000642.3(AGL):c.1597_1598del (p.Leu533fs)
|
rs1057516570
|
|
|
NM_000642.3(AGL):c.1603G>A (p.Val535Ile)
|
|
|
|
NM_000642.3(AGL):c.160G>A (p.Gly54Arg)
|
|
|
|
NM_000642.3(AGL):c.1611+11del
|
rs2101137047
|
|
|
NM_000642.3(AGL):c.1611+14A>G
|
|
|
|
NM_000642.3(AGL):c.1611+15_1611+17del
|
|
|
|
NM_000642.3(AGL):c.1611+16T>G
|
|
|
|
NM_000642.3(AGL):c.1611+19T>C
|
|
|
|
NM_000642.3(AGL):c.1611+2T>G
|
|
|
|
NM_000642.3(AGL):c.1611+4C>T
|
|
|
|
NM_000642.3(AGL):c.1611+8A>C
|
rs2101137054
|
|
|
NM_000642.3(AGL):c.1611+8A>G
|
rs2101137054
|
|
|
NM_000642.3(AGL):c.1611+9A>G
|
rs2101137063
|
|
|
NM_000642.3(AGL):c.1612-12_1612-11del
|
|
|
|
NM_000642.3(AGL):c.1612-1G>A
|
rs1327892944
|
|
|
NM_000642.3(AGL):c.1612-1G>C
|
rs1327892944
|
|
|
NM_000642.3(AGL):c.1612-3C>T
|
rs1286941369
|
|
|
NM_000642.3(AGL):c.1612-8T>A
|
rs1557762522
|
|
|
NM_000642.3(AGL):c.1615A>G (p.Met539Val)
|
rs764106633
|
|
|
NM_000642.3(AGL):c.1615A>T (p.Met539Leu)
|
rs764106633
|
|
|
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
|
rs749550642
|
|
|
NM_000642.3(AGL):c.1629T>G (p.Ala543=)
|
|
|
|
NM_000642.3(AGL):c.1632G>A (p.Arg544=)
|
rs2101145130
|
|
|
NM_000642.3(AGL):c.1636T>C (p.Leu546=)
|
rs2101145143
|
|
|
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
|
|
|
|
NM_000642.3(AGL):c.1639C>T (p.Gln547Ter)
|
rs2101145154
|
|
|
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
|
|
|
|
NM_000642.3(AGL):c.1641A>G (p.Gln547=)
|
|
|
|
NM_000642.3(AGL):c.1643C>G (p.Pro548Arg)
|
|
|
|
NM_000642.3(AGL):c.1644C>T (p.Pro548=)
|
|
|
|
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter)
|
rs1651872905
|
|
|
NM_000642.3(AGL):c.1656A>G (p.Val552=)
|
|
|
|
NM_000642.3(AGL):c.1659A>G (p.Val553=)
|
rs2101145334
|
|
|
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
|
rs1651873917
|
|
|
NM_000642.3(AGL):c.1668G>A (p.Leu556=)
|
|
|
|
NM_000642.3(AGL):c.1668G>T (p.Leu556=)
|
|
|
|
NM_000642.3(AGL):c.1669T>C (p.Phe557Leu)
|
|
|
|
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
|
rs1651875081
|
|
|
NM_000642.3(AGL):c.1674A>G (p.Thr558=)
|
rs1454235069
|
|
|
NM_000642.3(AGL):c.1674A>T (p.Thr558=)
|
rs1454235069
|
|
|
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
|
|
|
|
NM_000642.3(AGL):c.1686T>C (p.Asp562=)
|
rs2101145564
|
|
|
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs)
|
rs1651876879
|
|
|
NM_000642.3(AGL):c.168_169del (p.Thr56_Phe57insTer)
|
|
|
|
NM_000642.3(AGL):c.1690G>A (p.Asp564Asn)
|
|
|
|
NM_000642.3(AGL):c.1690G>T (p.Asp564Tyr)
|
rs1393453150
|
|
|
NM_000642.3(AGL):c.1692del (p.Asp564fs)
|
rs1651877300
|
|
|
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
|
rs2101145600
|
|
|
NM_000642.3(AGL):c.1695T>C (p.Asn565=)
|
|
|
|
NM_000642.3(AGL):c.1697T>A (p.Val566Asp)
|
|
|
|
NM_000642.3(AGL):c.169T>C (p.Phe57Leu)
|
rs756476562
|
|
|
NM_000642.3(AGL):c.1700_1701del (p.Phe567fs)
|
|
|
|
NM_000642.3(AGL):c.1704T>A (p.Val568=)
|
|
|
|
NM_000642.3(AGL):c.1709G>T (p.Arg570Ile)
|
|
|
|
NM_000642.3(AGL):c.1710A>T (p.Arg570Ser)
|
|
|
|
NM_000642.3(AGL):c.1715G>A (p.Gly572Asp)
|
rs1651880309
|
|
|
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
|
rs1651880309
|
|
|
NM_000642.3(AGL):c.1717dup (p.Ile573fs)
|
rs1651880905
|
|
|
NM_000642.3(AGL):c.1718_1720dup (p.Ile573_Ser574insIle)
|
rs1553186221
|
|
|
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
|
|
|
|
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter)
|
rs1651881949
|
|
|
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del)
|
rs1361477641
|
|
|
NM_000642.3(AGL):c.1729A>T (p.Ile577Leu)
|
|
|
|
NM_000642.3(AGL):c.1732A>C (p.Arg578=)
|
|
|
|
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)
|
rs1570442236
|
|
|
NM_000642.3(AGL):c.1735+11T>C
|
|
|
|
NM_000642.3(AGL):c.1735+15G>A
|
|
|
|
NM_000642.3(AGL):c.1735+16T>G
|
|
|
|
NM_000642.3(AGL):c.1735+17G>T
|
|
|
|
NM_000642.3(AGL):c.1735+1_1735+15del
|
rs1651883514
|
|
|
NM_000642.3(AGL):c.1735+5G>A
|
|
|
|
NM_000642.3(AGL):c.1735+5dup
|
rs766616589
|
|
|
NM_000642.3(AGL):c.1735+9G>A
|
rs1288733181
|
|
|
NM_000642.3(AGL):c.1735G>C (p.Glu579Gln)
|
|
|
|
NM_000642.3(AGL):c.1736-11A>G
|
rs2101148246
|
|
|
NM_000642.3(AGL):c.1736-12A>G
|
|
|
|
NM_000642.3(AGL):c.1736-13T>C
|
|
|
|
NM_000642.3(AGL):c.1736-14G>A
|
|
|
|
NM_000642.3(AGL):c.1736-17T>G
|
|
|
|
NM_000642.3(AGL):c.1736-18T>C
|
|
|
|
NM_000642.3(AGL):c.1736-4G>A
|
rs1651932304
|
|
|
NM_000642.3(AGL):c.1740A>G (p.Ala580=)
|
rs746250061
|
|
|
NM_000642.3(AGL):c.1755T>C (p.Asn585=)
|
rs900875709
|
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
|
|
|
NM_000642.3(AGL):c.175del (p.Arg59fs)
|
rs2101084835
|
|
|
NM_000642.3(AGL):c.1761T>C (p.His587=)
|
|
|
|
NM_000642.3(AGL):c.1767G>A (p.Glu589=)
|
rs146514283
|
|
|
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
|
rs1651935929
|
|
|
NM_000642.3(AGL):c.1770C>T (p.Gly590=)
|
|
|
|
NM_000642.3(AGL):c.1777G>C (p.Val593Leu)
|
rs1312675872
|
|
|
NM_000642.3(AGL):c.177A>G (p.Arg59=)
|
rs2101084841
|
|
|
NM_000642.3(AGL):c.1782C>A (p.Tyr594Ter)
|
rs1057516563
|
|
|
NM_000642.3(AGL):c.1785A>G (p.Arg595=)
|
|
|
|
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter)
|
rs777871903
|
|
|
NM_000642.3(AGL):c.1790G>A (p.Gly597Glu)
|
|
|
|
NM_000642.3(AGL):c.1792G>C (p.Gly598Arg)
|
|
|
|
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
|
rs1651940013
|
|
|
NM_000642.3(AGL):c.1800T>C (p.Pro600=)
|
|
|
|
NM_000642.3(AGL):c.1800T>G (p.Pro600=)
|
|
|
|
NM_000642.3(AGL):c.1803T>A (p.Val601=)
|
rs2101148745
|
|
|
NM_000642.3(AGL):c.1809C>G (p.Ser603=)
|
rs111918608
|
|
|
NM_000642.3(AGL):c.1809C>T (p.Ser603=)
|
rs111918608
|
|
|
NM_000642.3(AGL):c.1815T>C (p.Val605=)
|
|
|
|
NM_000642.3(AGL):c.1821C>G (p.Pro607=)
|
rs1257838110
|
|
|
NM_000642.3(AGL):c.1822T>C (p.Cys608Arg)
|
|
|
|
NM_000642.3(AGL):c.1822T>G (p.Cys608Gly)
|
|
|
|
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr)
|
rs1317587334
|
|
|
NM_000642.3(AGL):c.1828A>C (p.Arg610=)
|
|
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
|
NM_000642.3(AGL):c.1830del (p.Arg610fs)
|
rs2101148971
|
|
|
NM_000642.3(AGL):c.1832C>A (p.Pro611His)
|
|
|
|
NM_000642.3(AGL):c.1836A>G (p.Leu612=)
|
rs2101148994
|
|
|
NM_000642.3(AGL):c.1858C>T (p.Leu620=)
|
|
|
|
NM_000642.3(AGL):c.1858_1859del (p.Leu620fs)
|
|
|
|
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
|
|
|
|
NM_000642.3(AGL):c.1859T>C (p.Leu620Pro)
|
|
|
|
NM_000642.3(AGL):c.1860G>C (p.Leu620=)
|
rs1310988061
|
|
|
NM_000642.3(AGL):c.1863T>G (p.Phe621Leu)
|
|
|
|
NM_000642.3(AGL):c.1864A>G (p.Met622Val)
|
rs145517369
|
|
|
NM_000642.3(AGL):c.1866_1869dup (p.Ile624fs)
|
rs2101149228
|
|
|
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
|
rs146234738
|
|
|
NM_000642.3(AGL):c.1875G>A (p.Thr625=)
|
rs141944878
|
|
|
NM_000642.3(AGL):c.1875G>C (p.Thr625=)
|
rs141944878
|
|
|
NM_000642.3(AGL):c.1877A>G (p.His626Arg)
|
rs1553186368
|
|
|
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr)
|
rs1553186370
|
|
|
NM_000642.3(AGL):c.1882A>C (p.Asn628His)
|
|
|
|
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
|
rs1651950655
|
|
|
NM_000642.3(AGL):c.1883dup (p.Asn628fs)
|
|
|
|
NM_000642.3(AGL):c.1887G>A (p.Glu629=)
|
|
|
|
NM_000642.3(AGL):c.1887G>C (p.Glu629Asp)
|
|
|
|
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter)
|
rs1651951474
|
|
|
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg)
|
rs1553186376
|
|
|
NM_000642.3(AGL):c.1898T>C (p.Val633Ala)
|
|
|
|
NM_000642.3(AGL):c.1899+11A>C
|
|
|
|
NM_000642.3(AGL):c.1899+11A>G
|
|
|
|
NM_000642.3(AGL):c.1899+12A>G
|
|
|
|
NM_000642.3(AGL):c.1899+17T>C
|
|
|
|
NM_000642.3(AGL):c.1899+4A>C
|
|
|
|
NM_000642.3(AGL):c.1899+7A>G
|
|
|
|
NM_000642.3(AGL):c.1899G>T (p.Val633=)
|
rs2101149424
|
|
|
NM_000642.3(AGL):c.18G>A (p.Gln6=)
|
rs1469251200
|
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
|
NM_000642.3(AGL):c.1900-13T>C
|
|
|
|
NM_000642.3(AGL):c.1900-13T>G
|
|
|
|
NM_000642.3(AGL):c.1900-20T>A
|
|
|
|
NM_000642.3(AGL):c.1900-20TTG[3]
|
rs755380433
|
|
|
NM_000642.3(AGL):c.1902T>C (p.His634=)
|
rs2100758372
|
|
|
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
|
|
|
|
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
|
|
|
|
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp)
|
rs1553186447
|
|
|
NM_000642.3(AGL):c.1918G>T (p.Ala640Ser)
|
|
|
|
NM_000642.3(AGL):c.1919C>T (p.Ala640Val)
|
|
|
|
NM_000642.3(AGL):c.1926A>G (p.Pro642=)
|
rs2100758481
|
|
|
NM_000642.3(AGL):c.193C>G (p.Leu65Val)
|
rs772086117
|
|
|
NM_000642.3(AGL):c.193C>T (p.Leu65=)
|
rs772086117
|
|
|
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
|
|
|
|
NM_000642.3(AGL):c.1942dup (p.Ser648fs)
|
rs2100758555
|
|
|
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
|
rs1277302034
|
|
|
NM_000642.3(AGL):c.1950A>C (p.Ala650=)
|
rs776501271
|
|
|
NM_000642.3(AGL):c.1950A>G (p.Ala650=)
|
rs776501271
|
|
|
NM_000642.3(AGL):c.1965A>C (p.Gly655=)
|
|
|
|
NM_000642.3(AGL):c.1970C>T (p.Thr657Ile)
|
rs1245600149
|
|
|
NM_000642.3(AGL):c.1971A>T (p.Thr657=)
|
rs767863471
|
|
|
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
|
rs1173312923
|
|
|
NM_000642.3(AGL):c.1972A>T (p.Arg658Ter)
|
|
|
|
NM_000642.3(AGL):c.1979A>G (p.Tyr660Cys)
|
|
|
|
NM_000642.3(AGL):c.1980T>C (p.Tyr660=)
|
rs2100758758
|
|
|
NM_000642.3(AGL):c.198T>C (p.Asp66=)
|
rs773291730
|
|
|
NM_000642.3(AGL):c.1992G>A (p.Val664=)
|
rs2100758768
|
|
|
NM_000642.3(AGL):c.1994C>T (p.Pro665Leu)
|
|
|
|
NM_000642.3(AGL):c.1998del (p.Gln667fs)
|
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|
|
NM_000642.3(AGL):c.2001+11A>G
|
|
|
|
NM_000642.3(AGL):c.2001+12T>C
|
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|
|
NM_000642.3(AGL):c.2001+16G>T
|
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|
|
NM_000642.3(AGL):c.2001+1G>T
|
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|
|
NM_000642.3(AGL):c.2001+2T>C
|
rs1057516708
|
|
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NM_000642.3(AGL):c.2001+5G>A
|
rs1553186489
|
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NM_000642.3(AGL):c.2001+8_2001+9delinsCG
|
rs1064794512
|
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NM_000642.3(AGL):c.2001+8_2001+9delinsCT
|
rs1064794512
|
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NM_000642.3(AGL):c.2002-17A>G
|
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|
NM_000642.3(AGL):c.2002-1G>C
|
rs2100759240
|
|
|
NM_000642.3(AGL):c.2002-4C>T
|
rs2100759232
|
|
|
NM_000642.3(AGL):c.2002-5T>C
|
rs201718705
|
|
|
NM_000642.3(AGL):c.2002-6G>T
|
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|
NM_000642.3(AGL):c.2004T>C (p.Ile668=)
|
rs186966939
|
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|
NM_000642.3(AGL):c.2007A>G (p.Ser669=)
|
rs2100759275
|
|
|
NM_000642.3(AGL):c.2011_2012del (p.Val671fs)
|
rs1057516666
|
|
|
NM_000642.3(AGL):c.2011del (p.Val671fs)
|
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NM_000642.3(AGL):c.2016T>C (p.Ser672=)
|
rs985097322
|
|
|
NM_000642.3(AGL):c.2022A>C (p.Glu674Asp)
|
|
|
|
NM_000642.3(AGL):c.2022A>G (p.Glu674=)
|
rs1329258484
|
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|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
|
NM_000642.3(AGL):c.2025G>C (p.Arg675=)
|
|
|
|
NM_000642.3(AGL):c.2025G>T (p.Arg675=)
|
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|
NM_000642.3(AGL):c.2033C>G (p.Thr678Ser)
|
rs1198908336
|
|
|
NM_000642.3(AGL):c.2033C>T (p.Thr678Ile)
|
|
|
|
NM_000642.3(AGL):c.2034del (p.Lys679fs)
|
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|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
|
NM_000642.3(AGL):c.2046T>C (p.Pro682=)
|
|
|
|
NM_000642.3(AGL):c.2059T>G (p.Ser687Ala)
|
|
|
|
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
|
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|
|
NM_000642.3(AGL):c.2067A>C (p.Thr689=)
|
|
|
|
NM_000642.3(AGL):c.2067A>G (p.Thr689=)
|
rs2100759548
|
|
|
NM_000642.3(AGL):c.206A>G (p.Asn69Ser)
|
|
|
|
NM_000642.3(AGL):c.206dup (p.Asn69fs)
|
|
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|
NM_000642.3(AGL):c.2079T>C (p.Asn693=)
|
|
|
|
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)
|
rs1570445130
|
|
|
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)
|
rs778021848
|
|
|
NM_000642.3(AGL):c.2085A>G (p.Gln695=)
|
rs1652010292
|
|
|
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser)
|
rs771211030
|
|
|
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys)
|
rs771211030
|
|
|
NM_000642.3(AGL):c.2090G>A (p.Gly697Asp)
|
|
|
|
NM_000642.3(AGL):c.2091C>G (p.Gly697=)
|
|
|
|
NM_000642.3(AGL):c.2091C>T (p.Gly697=)
|
rs759619501
|
|
|
NM_000642.3(AGL):c.2092A>G (p.Ile698Val)
|
rs1257346542
|
|
|
NM_000642.3(AGL):c.2094T>A (p.Ile698=)
|
|
|
|
NM_000642.3(AGL):c.2094T>C (p.Ile698=)
|
rs750666972
|
|
|
NM_000642.3(AGL):c.2094_2127del (p.Ile699fs)
|
rs2100759667
|
|
|
NM_000642.3(AGL):c.2106G>A (p.Arg702=)
|
rs2100759717
|
|
|
NM_000642.3(AGL):c.2107T>C (p.Cys703Arg)
|
rs2100759729
|
|
|
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
|
|
|
|
NM_000642.3(AGL):c.2113A>G (p.Ile705Val)
|
rs1570445259
|
|
|
NM_000642.3(AGL):c.2116A>G (p.Ser706Gly)
|
|
|
|
NM_000642.3(AGL):c.2120_2121del (p.Lys707fs)
|
rs1553186577
|
|
|
NM_000642.3(AGL):c.2121A>G (p.Lys707=)
|
|
|
|
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
|
|
|
|
NM_000642.3(AGL):c.2133G>A (p.Glu711=)
|
rs1652016399
|
|
|
NM_000642.3(AGL):c.2135T>C (p.Leu712Pro)
|
rs2100759804
|
|
|
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg)
|
rs763281839
|
|
|
NM_000642.3(AGL):c.2144del (p.Lys715fs)
|
rs1652017784
|
|
|
NM_000642.3(AGL):c.2145G>A (p.Lys715=)
|
|
|
|
NM_000642.3(AGL):c.2149T>C (p.Phe717Leu)
|
|
|
|
NM_000642.3(AGL):c.214G>C (p.Glu72Gln)
|
|
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
|
NM_000642.3(AGL):c.2151del (p.Phe717fs)
|
|
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
|
NM_000642.3(AGL):c.2157+11A>G
|
|
|
|
NM_000642.3(AGL):c.2157+1G>T
|
|
|
|
NM_000642.3(AGL):c.2157+20G>A
|
|
|
|
NM_000642.3(AGL):c.2157+5G>T
|
|
|
|
NM_000642.3(AGL):c.2158-12T>G
|
|
|
|
NM_000642.3(AGL):c.2158-14T>C
|
|
|
|
NM_000642.3(AGL):c.2158-15C>A
|
rs1447772144
|
|
|
NM_000642.3(AGL):c.2158-17T>G
|
|
|
|
NM_000642.3(AGL):c.2158-18G>A
|
rs2100760038
|
|
|
NM_000642.3(AGL):c.2158-18_2158-16del
|
rs770934299
|
|
|
NM_000642.3(AGL):c.2158-1G>T
|
|
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
|
NM_000642.3(AGL):c.2158-3C>A
|
|
|
|
NM_000642.3(AGL):c.2158-4T>G
|
rs2100760100
|
|
|
NM_000642.3(AGL):c.2158-5C>T
|
|
|
|
NM_000642.3(AGL):c.2158-8C>G
|
rs1570445543
|
|
|
NM_000642.3(AGL):c.2158-8C>T
|
|
|
|
NM_000642.3(AGL):c.2166G>C (p.Val722=)
|
rs2100760140
|
|
|
NM_000642.3(AGL):c.2166G>T (p.Val722=)
|
|
|
|
NM_000642.3(AGL):c.2167_2179del (p.Asp723fs)
|
|
|
|
NM_000642.3(AGL):c.2172A>G (p.Gln724=)
|
rs1553186596
|
|
|
NM_000642.3(AGL):c.2173G>A (p.Val725Ile)
|
rs1269529478
|
|
|
NM_000642.3(AGL):c.2174T>C (p.Val725Ala)
|
|
|
|
NM_000642.3(AGL):c.2175T>A (p.Val725=)
|
rs2100760175
|
|
|
NM_000642.3(AGL):c.2178T>C (p.Asp726=)
|
|
|
|
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
|
rs1652029472
|
|
|
NM_000642.3(AGL):c.2187A>C (p.Ile729=)
|
|
|
|
NM_000642.3(AGL):c.2190G>A (p.Val730=)
|
rs1652030602
|
|
|
NM_000642.3(AGL):c.2194G>A (p.Val732Ile)
|
|
|
|
NM_000642.3(AGL):c.2196A>C (p.Val732=)
|
|
|
|
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
|
|
|
|
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del)
|
rs1553183207
|
|
|
NM_000642.3(AGL):c.2204A>C (p.His735Pro)
|
rs749756974
|
|
|
NM_000642.3(AGL):c.2204_2205del (p.His735fs)
|
|
|
|
NM_000642.3(AGL):c.2205C>T (p.His735=)
|
rs769218837
|
|
|
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
|
|
|
|
NM_000642.3(AGL):c.2211T>C (p.Pro737=)
|
rs935908606
|
|
|
NM_000642.3(AGL):c.2211T>G (p.Pro737=)
|
rs935908606
|
|
|
NM_000642.3(AGL):c.2214C>T (p.Ser738=)
|
|
|
|
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
|
rs1652034992
|
|
|
NM_000642.3(AGL):c.2219A>C (p.His740Pro)
|
|
|
|
NM_000642.3(AGL):c.2221C>T (p.Gln741Ter)
|
|
|
|
NM_000642.3(AGL):c.2223G>A (p.Gln741=)
|
|
|
|
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)
|
rs1553186613
|
|
|
NM_000642.3(AGL):c.2228T>C (p.Val743Ala)
|
|
|
|
NM_000642.3(AGL):c.2229T>A (p.Val743=)
|
rs2100760439
|
|
|
NM_000642.3(AGL):c.2229T>C (p.Val743=)
|
rs2100760439
|
|
|
NM_000642.3(AGL):c.2232G>A (p.Val744=)
|
|
|
|
NM_000642.3(AGL):c.2235T>G (p.Ala745=)
|
|
|
|
NM_000642.3(AGL):c.2236G>A (p.Val746Ile)
|
rs1652038002
|
|
|
NM_000642.3(AGL):c.2238A>G (p.Val746=)
|
rs1487514991
|
|
|
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
|
rs1650046049
|
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
|
NM_000642.3(AGL):c.2241T>G (p.Ser747=)
|
rs754816668
|
|
|
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
|
rs1652038882
|
|
|
NM_000642.3(AGL):c.2243G>T (p.Arg748Ile)
|
|
|
|
NM_000642.3(AGL):c.2245A>T (p.Thr749Ser)
|
rs891610687
|
|
|
NM_000642.3(AGL):c.225T>C (p.Asp75=)
|
|
|
|
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
|
rs1419239485
|
|
|
NM_000642.3(AGL):c.226G>A (p.Asp76Asn)
|
|
|
|
NM_000642.3(AGL):c.2275T>C (p.Tyr759His)
|
rs1652041472
|
|
|
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)
|
|
|
|
NM_000642.3(AGL):c.2277C>T (p.Tyr759=)
|
rs2100760610
|
|
|
NM_000642.3(AGL):c.2278del (p.Ser760fs)
|
rs1057517136
|
|
|
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
|
rs1557764702
|
|
|
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
|
|
|
|
NM_000642.3(AGL):c.2286A>G (p.Glu762=)
|
|
|
|
NM_000642.3(AGL):c.228T>C (p.Asp76=)
|
|
|
|
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu)
|
rs2100760670
|
|
|
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
|
rs1652043382
|
|
|
NM_000642.3(AGL):c.2308+10T>G
|
rs766145135
|
|
|
NM_000642.3(AGL):c.2308+19T>C
|
|
|
|
NM_000642.3(AGL):c.2308+20G>A
|
|
|
|
NM_000642.3(AGL):c.2308+20G>T
|
|
|
|
NM_000642.3(AGL):c.2308+2T>A
|
|
|
|
NM_000642.3(AGL):c.2308+6G>A
|
rs2100760748
|
|
|
NM_000642.3(AGL):c.2308+8A>C
|
rs2100760752
|
|
|
NM_000642.3(AGL):c.2309-12A>T
|
|
|
|
NM_000642.3(AGL):c.2309-16T>G
|
|
|
|
NM_000642.3(AGL):c.2309-17T>A
|
|
|
|
NM_000642.3(AGL):c.2309-18G>A
|
|
|
|
NM_000642.3(AGL):c.2310C>T (p.Gly770=)
|
rs1570450663
|
|
|
NM_000642.3(AGL):c.2313A>G (p.Lys771=)
|
|
|
|
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del)
|
rs766308910
|
|
|
NM_000642.3(AGL):c.2319A>G (p.Glu773=)
|
rs1570450735
|
|
|
NM_000642.3(AGL):c.2325A>C (p.Val775=)
|
|
|
|
NM_000642.3(AGL):c.2325A>G (p.Val775=)
|
rs2100767961
|
|
|
NM_000642.3(AGL):c.2326G>T (p.Val776Phe)
|
|
|
|
NM_000642.3(AGL):c.2332G>A (p.Glu778Lys)
|
rs1173769424
|
|
|
NM_000642.3(AGL):c.2337T>A (p.Ala779=)
|
|
|
|
NM_000642.3(AGL):c.2339G>T (p.Arg780Ile)
|
|
|
|
NM_000642.3(AGL):c.2346del (p.Ile782fs)
|
rs2100768023
|
|
|
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
|
|
|
|
NM_000642.3(AGL):c.234T>C (p.Asp78=)
|
|
|
|
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
|
|
|
|
NM_000642.3(AGL):c.2353_2354del (p.Asn785fs)
|
|
|
|
NM_000642.3(AGL):c.2357C>A (p.Thr786Lys)
|
|
|
|
NM_000642.3(AGL):c.2358G>T (p.Thr786=)
|
rs764022108
|
|
|
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
|
rs1650047298
|
|
|
NM_000642.3(AGL):c.2362_2392dup (p.Gly798delinsAlaLeuTer)
|
|
|
|
NM_000642.3(AGL):c.2364T>C (p.Pro788=)
|
rs1368630389
|
|
|
NM_000642.3(AGL):c.2365T>C (p.Tyr789His)
|
rs1652264808
|
|
|
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
|
rs1557766791
|
|
|
NM_000642.3(AGL):c.2373G>A (p.Lys791=)
|
|
|
|
NM_000642.3(AGL):c.2384C>A (p.Ser795Ter)
|
rs1206517501
|
|
|
NM_000642.3(AGL):c.2384C>T (p.Ser795Leu)
|
|
|
|
NM_000642.3(AGL):c.2388C>T (p.Ile796=)
|
rs2100768193
|
|
|
NM_000642.3(AGL):c.2394A>G (p.Gly798=)
|
|
|
|
NM_000642.3(AGL):c.2397dup (p.Pro800fs)
|
|
|
|
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
|
rs1652268068
|
|
|
NM_000642.3(AGL):c.2404A>G (p.Ile802Val)
|
|
|
|
NM_000642.3(AGL):c.2407A>G (p.Thr803Ala)
|
|
|
|
NM_000642.3(AGL):c.240C>T (p.Tyr80=)
|
rs761894580
|
|
|
NM_000642.3(AGL):c.2418T>A (p.Ile806=)
|
rs780678357
|
|
|
NM_000642.3(AGL):c.2433+14T>C
|
|
|
|
NM_000642.3(AGL):c.2433+15C>A
|
|
|
|
NM_000642.3(AGL):c.2433+15C>T
|
|
|
|
NM_000642.3(AGL):c.2433+17T>C
|
|
|
|
NM_000642.3(AGL):c.2433+18C>G
|
|
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
|
NM_000642.3(AGL):c.2433+2T>C
|
rs2100768436
|
|
|
NM_000642.3(AGL):c.2434-11T>C
|
|
|
|
NM_000642.3(AGL):c.2434-13A>G
|
|
|
|
NM_000642.3(AGL):c.2434-15G>A
|
rs1652280455
|
|
|
NM_000642.3(AGL):c.2434-18A>C
|
|
|
|
NM_000642.3(AGL):c.2434-19T>A
|
|
|
|
NM_000642.3(AGL):c.2434-1G>T
|
rs2100768726
|
|
|
NM_000642.3(AGL):c.2434-4del
|
|
|
|
NM_000642.3(AGL):c.2434-5T>C
|
|
|
|
NM_000642.3(AGL):c.2434-9T>C
|
|
|
|
NM_000642.3(AGL):c.2439T>C (p.Asn813=)
|
rs2100768745
|
|
|
NM_000642.3(AGL):c.2442A>G (p.Glu814=)
|
rs2100768770
|
|
|
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
|
rs1652283067
|
|
|
NM_000642.3(AGL):c.2451T>C (p.Ile817=)
|
|
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
|
NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)
|
|
|
|
NM_000642.3(AGL):c.2465G>A (p.Gly822Glu)
|
rs752820851
|
|
|
NM_000642.3(AGL):c.2465del (p.Gly822fs)
|
|
|
|
NM_000642.3(AGL):c.2466A>T (p.Gly822=)
|
rs2100768839
|
|
|
NM_000642.3(AGL):c.2467G>A (p.Val823Ile)
|
|
|
|
NM_000642.3(AGL):c.246A>G (p.Lys82=)
|
rs1422529746
|
|
|
NM_000642.3(AGL):c.2470G>A (p.Ala824Thr)
|
rs1173687543
|
|
|
NM_000642.3(AGL):c.2473A>G (p.Thr825Ala)
|
|
|
|
NM_000642.3(AGL):c.2474del (p.Thr825fs)
|
rs2100768875
|
|
|
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
|
|
|
|
NM_000642.3(AGL):c.2481G>A (p.Gly827=)
|
|
|
|
NM_000642.3(AGL):c.2484C>T (p.Pro828=)
|
rs1570451390
|
|
|
NM_000642.3(AGL):c.2490A>G (p.Glu830=)
|
|
|
|
NM_000642.3(AGL):c.2491T>C (p.Tyr831His)
|
rs2100768935
|
|
|
NM_000642.3(AGL):c.2492A>G (p.Tyr831Cys)
|
|
|
|
NM_000642.3(AGL):c.2493T>C (p.Tyr831=)
|
|
|
|
NM_000642.3(AGL):c.2494dup (p.Ile832fs)
|
rs2100768945
|
|
|
NM_000642.3(AGL):c.2497C>A (p.Gln833Lys)
|
rs757870729
|
|
|
NM_000642.3(AGL):c.2497C>T (p.Gln833Ter)
|
rs757870729
|
|
|
NM_000642.3(AGL):c.2498A>C (p.Gln833Pro)
|
|
|
|
NM_000642.3(AGL):c.2498A>G (p.Gln833Arg)
|
|
|
|
NM_000642.3(AGL):c.249T>C (p.Leu83=)
|
|
|
|
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
|
rs1648909681
|
|
|
NM_000642.3(AGL):c.2500del (p.Glu834fs)
|
|
|
|
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
|
rs1652287991
|
|
|
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
|
|
|
|
NM_000642.3(AGL):c.2518T>C (p.Leu840=)
|
rs2100769077
|
|
|
NM_000642.3(AGL):c.251dup (p.Asn84fs)
|
rs756175624
|
|
|
NM_000642.3(AGL):c.2522C>A (p.Ser841Tyr)
|
rs150441555
|
|
|
NM_000642.3(AGL):c.2525del (p.Pro842fs)
|
rs1057517425
|
|
|
NM_000642.3(AGL):c.2526A>G (p.Pro842=)
|
|
|
|
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
|
|
|
|
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
|
rs1570451577
|
|
|
NM_000642.3(AGL):c.2538dup (p.Ile847fs)
|
rs1057516984
|
|
|
NM_000642.3(AGL):c.253C>T (p.Leu85=)
|
|
|
|
NM_000642.3(AGL):c.2546+14G>C
|
|
|
|
NM_000642.3(AGL):c.2546+18A>G
|
|
|
|
NM_000642.3(AGL):c.2546+1G>A
|
|
|
|
NM_000642.3(AGL):c.2546+1G>T
|
|
|
|
NM_000642.3(AGL):c.2547-18T>C
|
|
|
|
NM_000642.3(AGL):c.2547-9C>T
|
|
|
|
NM_000642.3(AGL):c.255G>A (p.Leu85=)
|
rs983460815
|
|
|
NM_000642.3(AGL):c.255G>T (p.Leu85=)
|
rs983460815
|
|
|
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
|
rs1652304925
|
|
|
NM_000642.3(AGL):c.2562A>G (p.Pro854=)
|
rs2100769639
|
|
|
NM_000642.3(AGL):c.2565T>C (p.His855=)
|
rs1312742910
|
|
|
NM_000642.3(AGL):c.2566G>A (p.Ala856Thr)
|
rs2100769660
|
|
|
NM_000642.3(AGL):c.2568A>G (p.Ala856=)
|
|
|
|
NM_000642.3(AGL):c.2568A>T (p.Ala856=)
|
rs778333621
|
|
|
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter)
|
rs1652306026
|
|
|
NM_000642.3(AGL):c.2570A>C (p.Gln857Pro)
|
|
|
|
NM_000642.3(AGL):c.2575G>T (p.Ala859Ser)
|
|
|
|
NM_000642.3(AGL):c.2577T>C (p.Ala859=)
|
|
|
|
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
|
rs1652307305
|
|
|
NM_000642.3(AGL):c.2578del (p.Val860fs)
|
|
|
|
NM_000642.3(AGL):c.2585T>A (p.Ile862Asn)
|
|
|
|
NM_000642.3(AGL):c.2589T>C (p.Leu863=)
|
|
|
|
NM_000642.3(AGL):c.2600T>C (p.Leu867Pro)
|
|
|
|
NM_000642.3(AGL):c.2604A>C (p.Thr868=)
|
|
|
|
NM_000642.3(AGL):c.2604A>G (p.Thr868=)
|
|
|
|
NM_000642.3(AGL):c.2605C>T (p.Gln869Ter)
|
rs1057516254
|
|
|
NM_000642.3(AGL):c.2607A>T (p.Gln869His)
|
|
|
|
NM_000642.3(AGL):c.2612G>A (p.Ser871Asn)
|
|
|
|
NM_000642.3(AGL):c.2614C>T (p.Pro872Ser)
|
|
|
|
NM_000642.3(AGL):c.2619C>T (p.His873=)
|
|
|
|
NM_000642.3(AGL):c.2623A>C (p.Lys875Gln)
|
|
|
|
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu)
|
rs750932668
|
|
|
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
|
|
|
|
NM_000642.3(AGL):c.2629G>C (p.Gly877Arg)
|
|
|
|
NM_000642.3(AGL):c.2631C>T (p.Gly877=)
|
|
|
|
NM_000642.3(AGL):c.2635C>T (p.Leu879=)
|
|
|
|
NM_000642.3(AGL):c.2637A>G (p.Leu879=)
|
rs2100769858
|
|
|
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
|
|
|
|
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
|
|
|
|
NM_000642.3(AGL):c.266G>A (p.Gly89Asp)
|
|
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
|
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser)
|
rs777738895
|
|
|
NM_000642.3(AGL):c.2673T>A (p.Pro891=)
|
rs2100769997
|
|
|
NM_000642.3(AGL):c.2673T>C (p.Pro891=)
|
rs2100769997
|
|
|
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
|
rs1652316880
|
|
|
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
|
rs1652317076
|
|
|
NM_000642.3(AGL):c.2681+10C>T
|
|
|
|
NM_000642.3(AGL):c.2681+12T>G
|
|
|
|
NM_000642.3(AGL):c.2681+1G>T
|
rs201201443
|
|
|
NM_000642.3(AGL):c.2681+20T>C
|
|
|
|
NM_000642.3(AGL):c.2681+2T>G
|
|
|
|
NM_000642.3(AGL):c.2681+4dup
|
rs754242194
|
|
|
NM_000642.3(AGL):c.2681+5G>C
|
rs1249689678
|
|
|
NM_000642.3(AGL):c.2681+7A>G
|
rs1480314956
|
|
|
NM_000642.3(AGL):c.2681+8T>C
|
|
|
|
NM_000642.3(AGL):c.2681+9G>A
|
|
|
|
NM_000642.3(AGL):c.2681+9G>C
|
|
|
|
NM_000642.3(AGL):c.2681+9G>T
|
|
|
|
NM_000642.3(AGL):c.2682-10del
|
|
|
|
NM_000642.3(AGL):c.2682-16A>G
|
|
|
|
NM_000642.3(AGL):c.2682-2A>G
|
rs1185321132
|
|
|
NM_000642.3(AGL):c.2682-8A>G
|
|
|
|
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
|
|
|
|
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
|
|
|
|
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
|
|
|
|
NM_000642.3(AGL):c.2699C>G (p.Thr900Ser)
|
|
|
|
NM_000642.3(AGL):c.2700T>G (p.Thr900=)
|
|
|
|
NM_000642.3(AGL):c.2701T>C (p.Leu901=)
|
|
|
|
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
|
|
|
|
NM_000642.3(AGL):c.2706T>C (p.Ala902=)
|
|
|
|
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
|
rs2100778885
|
|
|
NM_000642.3(AGL):c.2707G>T (p.Glu903Ter)
|
|
|
|
NM_000642.3(AGL):c.2708A>C (p.Glu903Ala)
|
rs2100778892
|
|
|
NM_000642.3(AGL):c.2710C>T (p.Leu904=)
|
|
|
|
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet)
|
rs1288036533
|
|
|
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs)
|
rs1553187957
|
|
|
NM_000642.3(AGL):c.2718G>C (p.Gln906His)
|
|
|
|
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
|
|
|
|
NM_000642.3(AGL):c.2727C>G (p.Tyr909Ter)
|
rs1239498701
|
|
|
NM_000642.3(AGL):c.2729G>T (p.Arg910Leu)
|
rs369044372
|
|
|
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter)
|
rs1652583223
|
|
|
NM_000642.3(AGL):c.2739A>C (p.Ser913=)
|
|
|
|
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
|
|
|
|
NM_000642.3(AGL):c.2752G>A (p.Asp918Asn)
|
|
|
|
NM_000642.3(AGL):c.2766C>T (p.Cys922=)
|
rs1652584310
|
|
|
NM_000642.3(AGL):c.2768A>G (p.Tyr923Cys)
|
rs2100779074
|
|
|
NM_000642.3(AGL):c.276G>A (p.Gln92=)
|
|
|
|
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
|
|
|
|
NM_000642.3(AGL):c.2790C>T (p.Ala930=)
|
|
|
|
NM_000642.3(AGL):c.2793del (p.Lys932fs)
|
rs2100779184
|
|
|
NM_000642.3(AGL):c.2799T>C (p.Tyr933=)
|
|
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
|
NM_000642.3(AGL):c.2802A>G (p.Ala934=)
|
rs34230588
|
|
|
NM_000642.3(AGL):c.2802_2803delinsCA (p.Gly935Ser)
|
rs2100779264
|
|
|
NM_000642.3(AGL):c.2806C>T (p.Leu936Phe)
|
rs1652591450
|
|
|
NM_000642.3(AGL):c.2810_2812+21del
|
|
|
|
NM_000642.3(AGL):c.2812+13A>C
|
|
|
|
NM_000642.3(AGL):c.2812+16G>T
|
|
|
|
NM_000642.3(AGL):c.2812+1G>C
|
|
|
|
NM_000642.3(AGL):c.2812G>A (p.Gly938Ser)
|
rs922506679
|
|
|
NM_000642.3(AGL):c.2813-18A>G
|
|
|
|
NM_000642.3(AGL):c.2813-20A>G
|
|
|
|
NM_000642.3(AGL):c.2813-20A>T
|
|
|
|
NM_000642.3(AGL):c.2814T>C (p.Gly938=)
|
rs147590282
|
|
|
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
|
rs754850076
|
|
|
NM_000642.3(AGL):c.2819T>C (p.Met940Thr)
|
rs2100788224
|
|
|
NM_000642.3(AGL):c.2822C>G (p.Ser941Cys)
|
|
|
|
NM_000642.3(AGL):c.2823T>C (p.Ser941=)
|
rs1570463461
|
|
|
NM_000642.3(AGL):c.2823dup (p.Val942fs)
|
rs1652870529
|
|
|
NM_000642.3(AGL):c.2824G>C (p.Val942Leu)
|
|
|
|
NM_000642.3(AGL):c.2832A>T (p.Ala944=)
|
rs1570463525
|
|
|
NM_000642.3(AGL):c.2835A>G (p.Glu945=)
|
rs757493715
|
|
|
NM_000642.3(AGL):c.2840G>A (p.Arg947Lys)
|
|
|
|
NM_000642.3(AGL):c.2842C>T (p.Pro948Ser)
|
|
|
|
NM_000642.3(AGL):c.2844A>G (p.Pro948=)
|
|
|
|
NM_000642.3(AGL):c.2847G>A (p.Lys949=)
|
|
|
|
NM_000642.3(AGL):c.2849A>G (p.Asn950Ser)
|
|
|
|
NM_000642.3(AGL):c.2850T>C (p.Asn950=)
|
|
|
|
NM_000642.3(AGL):c.2851G>A (p.Asp951Asn)
|
|
|
|
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
|
rs1010866326
|
|
|
NM_000642.3(AGL):c.2859G>A (p.Gly953=)
|
rs749596632
|
|
|
NM_000642.3(AGL):c.2865T>C (p.Pro955=)
|
|
|
|
NM_000642.3(AGL):c.2869del (p.Cys957fs)
|
|
|
|
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
|
rs1000217312
|
|
|
NM_000642.3(AGL):c.2892T>C (p.Asp964=)
|
rs2100788564
|
|
|
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter)
|
rs1652877420
|
|
|
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
|
rs772843306
|
|
|
NM_000642.3(AGL):c.289C>T (p.Gln97Ter)
|
rs1553183220
|
|
|
NM_000642.3(AGL):c.2904C>T (p.Asp968=)
|
rs760319249
|
|
|
NM_000642.3(AGL):c.2905dup (p.Tyr969fs)
|
rs1652879873
|
|
|
NM_000642.3(AGL):c.2906_2907del (p.Tyr969fs)
|
rs1553188559
|
|
|
NM_000642.3(AGL):c.2908G>T (p.Val970Phe)
|
|
|
|
NM_000642.3(AGL):c.2909T>C (p.Val970Ala)
|
rs1570463733
|
|
|
NM_000642.3(AGL):c.2910C>T (p.Val970=)
|
|
|
|
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
|
rs1211367569
|
|
|
NM_000642.3(AGL):c.2916C>T (p.Asn972=)
|
rs1652881200
|
|
|
NM_000642.3(AGL):c.2917C>A (p.Arg973=)
|
|
|
|
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
|
rs1012435007
|
|
|
NM_000642.3(AGL):c.2919G>A (p.Arg973=)
|
|
|
|
NM_000642.3(AGL):c.2919G>T (p.Arg973=)
|
|
|
|
NM_000642.3(AGL):c.291A>G (p.Gln97=)
|
|
|
|
NM_000642.3(AGL):c.2920C>T (p.Leu974Phe)
|
|
|
|
NM_000642.3(AGL):c.292G>A (p.Gly98Arg)
|
rs1557746870
|
|
|
NM_000642.3(AGL):c.292G>C (p.Gly98Arg)
|
|
|
|
NM_000642.3(AGL):c.293+10G>A
|
rs2101085296
|
|
|
NM_000642.3(AGL):c.293+10G>T
|
|
|
|
NM_000642.3(AGL):c.293+15T>C
|
|
|
|
NM_000642.3(AGL):c.293+16T>C
|
|
|
|
NM_000642.3(AGL):c.293+19_293+22del
|
rs2101085303
|
|
|
NM_000642.3(AGL):c.293+1G>T
|
|
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
|
NM_000642.3(AGL):c.293+7C>A
|
|
|
|
NM_000642.3(AGL):c.293+7C>G
|
rs777847856
|
|
|
NM_000642.3(AGL):c.293+8A>T
|
rs2101085281
|
|
|
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
|
rs147977213
|
|
|
NM_000642.3(AGL):c.2936G>A (p.Gly979Glu)
|
rs1170310851
|
|
|
NM_000642.3(AGL):c.2936del (p.Gly979fs)
|
|
|
|
NM_000642.3(AGL):c.294-12T>A
|
rs755307948
|
|
|
NM_000642.3(AGL):c.294-18T>C
|
|
|
|
NM_000642.3(AGL):c.294-1G>C
|
rs757967016
|
|
|
NM_000642.3(AGL):c.294-20T>C
|
|
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
|
NM_000642.3(AGL):c.294-5C>T
|
|
|
|
NM_000642.3(AGL):c.294-8dup
|
|
|
|
NM_000642.3(AGL):c.2949+19T>C
|
|
|
|
NM_000642.3(AGL):c.2949+2T>A
|
rs750492389
|
|
|
NM_000642.3(AGL):c.2949+2T>C
|
rs750492389
|
|
|
NM_000642.3(AGL):c.2949+2dup
|
rs1553188589
|
|
|
NM_000642.3(AGL):c.2949+5G>A
|
rs1652885754
|
|
|
NM_000642.3(AGL):c.2949+6T>C
|
rs1557772463
|
|
|
NM_000642.3(AGL):c.2949+7A>G
|
|
|
|
NM_000642.3(AGL):c.2949+8G>C
|
rs2100788937
|
|
|
NM_000642.3(AGL):c.2950-14T>C
|
rs1476205079
|
|
|
NM_000642.3(AGL):c.2950-18A>G
|
|
|
|
NM_000642.3(AGL):c.2950-1G>A
|
rs1057516793
|
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
|
NM_000642.3(AGL):c.2950-20C>A
|
|
|
|
NM_000642.3(AGL):c.2950-2A>C
|
rs770438130
|
|
|
NM_000642.3(AGL):c.2950-2A>G
|
rs770438130
|
|
|
NM_000642.3(AGL):c.2950-4A>G
|
rs895120257
|
|
|
NM_000642.3(AGL):c.2950-9del
|
rs2100789612
|
|
|
NM_000642.3(AGL):c.2953G>A (p.Gly985Ser)
|
|
|
|
NM_000642.3(AGL):c.2958A>G (p.Lys986=)
|
rs776028713
|
|
|
NM_000642.3(AGL):c.2960G>A (p.Trp987Ter)
|
rs1652906180
|
|
|
NM_000642.3(AGL):c.2963del (p.Leu988fs)
|
rs1313973421
|
|
|
NM_000642.3(AGL):c.2967G>A (p.Gln989=)
|
rs2100789733
|
|
|
NM_000642.3(AGL):c.296del (p.Asn99fs)
|
|
|
|
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del)
|
rs1553188647
|
|
|
NM_000642.3(AGL):c.297T>C (p.Asn99=)
|
rs2101086914
|
|
|
NM_000642.3(AGL):c.2981A>C (p.Tyr994Ser)
|
rs1652908148
|
|
|
NM_000642.3(AGL):c.2982C>T (p.Tyr994=)
|
|
|
|
NM_000642.3(AGL):c.2983C>T (p.Leu995=)
|
rs1292106664
|
|
|
NM_000642.3(AGL):c.2985G>A (p.Leu995=)
|
rs2100789816
|
|
|
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
|
|
|
|
NM_000642.3(AGL):c.2990A>G (p.Gln997Arg)
|
rs1336041021
|
|
|
NM_000642.3(AGL):c.2991G>A (p.Gln997=)
|
rs1570464401
|
|
|
NM_000642.3(AGL):c.2996del (p.Pro999fs)
|
rs1652909202
|
|
|
NM_000642.3(AGL):c.2997A>C (p.Pro999=)
|
|
|
|
NM_000642.3(AGL):c.2997A>G (p.Pro999=)
|
|
|
|
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
|
|
|
|
NM_000642.3(AGL):c.2999G>A (p.Arg1000His)
|
|
|
|
NM_000642.3(AGL):c.3001T>A (p.Tyr1001Asn)
|
|
|
|
NM_000642.3(AGL):c.3003C>A (p.Tyr1001Ter)
|
|
|
|
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
|
rs1652911105
|
|
|
NM_000642.3(AGL):c.3011del (p.Pro1004fs)
|
rs1057516306
|
|
|
NM_000642.3(AGL):c.3012A>C (p.Pro1004=)
|
|
|
|
NM_000642.3(AGL):c.3019T>C (p.Phe1007Leu)
|
|
|
|
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
|
rs1652912052
|
|
|
NM_000642.3(AGL):c.3030A>G (p.Ile1010Met)
|
|
|
|
NM_000642.3(AGL):c.3030A>T (p.Ile1010=)
|
|
|
|
NM_000642.3(AGL):c.3033_3036del (p.Ile1012fs)
|
|
|
|
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
|
rs1652913374
|
|
|
NM_000642.3(AGL):c.3042A>G (p.Ala1014=)
|
rs372872214
|
|
|
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
|
rs1652914200
|
|
|
NM_000642.3(AGL):c.3048C>T (p.Thr1016=)
|
|
|
|
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
|
rs534210500
|
|
|
NM_000642.3(AGL):c.3049A>T (p.Thr1017Ser)
|
|
|
|
NM_000642.3(AGL):c.3049dup (p.Thr1017fs)
|
rs1557772907
|
|
|
NM_000642.3(AGL):c.3054_3083+34del
|
|
|
|
NM_000642.3(AGL):c.3060T>C (p.Asp1020=)
|
|
|
|
NM_000642.3(AGL):c.3066A>G (p.Ala1022=)
|
|
|
|
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
|
rs775865279
|
|
|
NM_000642.3(AGL):c.3071A>G (p.Lys1024Arg)
|
|
|
|
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr)
|
rs1570464667
|
|
|
NM_000642.3(AGL):c.3082A>C (p.Ser1028Arg)
|
|
|
|
NM_000642.3(AGL):c.3083+14A>G
|
|
|
|
NM_000642.3(AGL):c.3083+17T>C
|
|
|
|
NM_000642.3(AGL):c.3083+1G>A
|
rs2100790188
|
|
|
NM_000642.3(AGL):c.3083+1G>T
|
|
|
|
NM_000642.3(AGL):c.3083+2T>C
|
rs1057516952
|
|
|
NM_000642.3(AGL):c.3083+5_3083+6del
|
rs781189361
|
|
|
NM_000642.3(AGL):c.3083+6_3083+9dup
|
rs2100790205
|
|
|
NM_000642.3(AGL):c.3083+8C>A
|
rs2100790226
|
|
|
NM_000642.3(AGL):c.3083+8C>G
|
rs2100790226
|
|
|
NM_000642.3(AGL):c.3083+9A>C
|
|
|
|
NM_000642.3(AGL):c.3084-13A>G
|
|
|
|
NM_000642.3(AGL):c.3084-16A>G
|
|
|
|
NM_000642.3(AGL):c.3084-19T>C
|
|
|
|
NM_000642.3(AGL):c.3084-19T>G
|
rs1165628984
|
|
|
NM_000642.3(AGL):c.3084-1G>A
|
|
|
|
NM_000642.3(AGL):c.3084-20T>G
|
|
|
|
NM_000642.3(AGL):c.3084-5dup
|
rs773212374
|
|
|
NM_000642.3(AGL):c.3084-8del
|
|
|
|
NM_000642.3(AGL):c.3085T>C (p.Phe1029Leu)
|
|
|
|
NM_000642.3(AGL):c.3087T>C (p.Phe1029=)
|
rs2100792263
|
|
|
NM_000642.3(AGL):c.3088del (p.Val1030fs)
|
|
|
|
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
|
|
|
|
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
|
|
|
|
NM_000642.3(AGL):c.3096T>C (p.Asn1032=)
|
|
|
|
NM_000642.3(AGL):c.3098G>A (p.Gly1033Asp)
|
rs1255302658
|
|
|
NM_000642.3(AGL):c.3098G>T (p.Gly1033Val)
|
rs1255302658
|
|
|
NM_000642.3(AGL):c.30A>G (p.Leu10=)
|
|
|
|
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
|
|
|
|
NM_000642.3(AGL):c.3108T>A (p.Phe1036Leu)
|
|
|
|
NM_000642.3(AGL):c.310G>A (p.Gly104Arg)
|
rs745610775
|
|
|
NM_000642.3(AGL):c.3110_3111dup (p.Lys1038Ter)
|
|
|
|
NM_000642.3(AGL):c.3123A>G (p.Ser1041=)
|
rs2100792381
|
|
|
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
|
rs764821272
|
|
|
NM_000642.3(AGL):c.3127G>C (p.Gly1043Arg)
|
|
|
|
NM_000642.3(AGL):c.3129T>C (p.Gly1043=)
|
|
|
|
NM_000642.3(AGL):c.3131C>T (p.Ser1044Leu)
|
rs1166582494
|
|
|
NM_000642.3(AGL):c.3133_3137del (p.Val1045fs)
|
|
|
|
NM_000642.3(AGL):c.3138A>G (p.Gln1046=)
|
rs575551045
|
|
|
NM_000642.3(AGL):c.3147A>G (p.Gly1049=)
|
rs2100792528
|
|
|
NM_000642.3(AGL):c.3150A>G (p.Val1050=)
|
rs202095430
|
|
|
NM_000642.3(AGL):c.3159C>T (p.Phe1053=)
|
|
|
|
NM_000642.3(AGL):c.3160C>T (p.Pro1054Ser)
|
rs1269370932
|
|
|
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val)
|
rs774124715
|
|
|
NM_000642.3(AGL):c.3171A>C (p.Pro1057=)
|
rs2100792641
|
|
|
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
|
|
|
|
NM_000642.3(AGL):c.3175C>T (p.Leu1059Phe)
|
rs868699590
|
|
|
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
|
|
|
|
NM_000642.3(AGL):c.3179C>G (p.Ser1060Ter)
|
rs774926455
|
|
|
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
|
rs1475224037
|
|
|
NM_000642.3(AGL):c.3186C>T (p.Ala1062=)
|
rs1652981485
|
|
|
NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal)
|
rs1553188824
|
|
|
NM_000642.3(AGL):c.3192_3197delinsTTCACCTA (p.Met1064fs)
|
|
|
|
NM_000642.3(AGL):c.3193G>A (p.Asp1065Asn)
|
|
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
|
NM_000642.3(AGL):c.3195T>C (p.Asp1065=)
|
|
|
|
NM_000642.3(AGL):c.3198A>G (p.Val1066=)
|
rs1652982572
|
|
|
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
|
rs3753494
|
|
|
NM_000642.3(AGL):c.3204T>C (p.Tyr1068=)
|
|
|
|
NM_000642.3(AGL):c.3204_3205del (p.Tyr1068_Arg1069delinsTer)
|
rs1553188832
|
|
|
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
|
|
|
|
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
|
rs1346677449
|
|
|
NM_000642.3(AGL):c.3213T>A (p.Asn1071Lys)
|
rs765357864
|
|
|
NM_000642.3(AGL):c.3214G>T (p.Glu1072Ter)
|
rs752840373
|
|
|
NM_000642.3(AGL):c.3215A>T (p.Glu1072Val)
|
rs2100792880
|
|
|
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs)
|
rs771069887
|
|
|
NM_000642.3(AGL):c.3219C>A (p.Ile1073=)
|
rs2100792896
|
|
|
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
|
|
|
|
NM_000642.3(AGL):c.3222A>G (p.Thr1074=)
|
|
|
|
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
|
|
|
|
NM_000642.3(AGL):c.3225del (p.Glu1076fs)
|
|
|
|
NM_000642.3(AGL):c.3226G>A (p.Glu1076Lys)
|
|
|
|
NM_000642.3(AGL):c.3227_3231del (p.Glu1076fs)
|
|
|
|
NM_000642.3(AGL):c.3229_3230del (p.Lys1077fs)
|
rs1557773719
|
|
|
NM_000642.3(AGL):c.3234G>A (p.Glu1078=)
|
rs147184258
|
|
|
NM_000642.3(AGL):c.3235C>T (p.Gln1079Ter)
|
rs1553188849
|
|
|
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
|
|
|
|
NM_000642.3(AGL):c.323T>C (p.Val108Ala)
|
|
|
|
NM_000642.3(AGL):c.3242G>C (p.Cys1081Ser)
|
rs147375385
|
|
|
NM_000642.3(AGL):c.324T>C (p.Val108=)
|
rs2101087013
|
|
|
NM_000642.3(AGL):c.3252A>G (p.Leu1084=)
|
rs2100793038
|
|
|
NM_000642.3(AGL):c.3259+12T>G
|
|
|
|
NM_000642.3(AGL):c.3259+13G>T
|
|
|
|
NM_000642.3(AGL):c.3259+18A>G
|
|
|
|
NM_000642.3(AGL):c.3259+1G>C
|
|
|
|
NM_000642.3(AGL):c.3259+20G>T
|
|
|
|
NM_000642.3(AGL):c.3259+3A>C
|
rs748859491
|
|
|
NM_000642.3(AGL):c.3259+9_3259+25del
|
|
|
|
NM_000642.3(AGL):c.3260-14G>A
|
|
|
|
NM_000642.3(AGL):c.3260-14G>T
|
|
|
|
NM_000642.3(AGL):c.3260-14_3260-10dup
|
rs1653309500
|
|
|
NM_000642.3(AGL):c.3260-16G>A
|
rs2100803506
|
|
|
NM_000642.3(AGL):c.3260-16G>T
|
|
|
|
NM_000642.3(AGL):c.3260-2A>T
|
rs775904482
|
|
|
NM_000642.3(AGL):c.3260-3T>C
|
rs1021997139
|
|
|
NM_000642.3(AGL):c.3260-5G>A
|
|
|
|
NM_000642.3(AGL):c.3260-5G>T
|
rs746869422
|
|
|
NM_000642.3(AGL):c.3260-6del
|
rs772280861
|
|
|
NM_000642.3(AGL):c.3260-6dup
|
rs772280861
|
|
|
NM_000642.3(AGL):c.3260-8T>C
|
|
|
|
NM_000642.3(AGL):c.3260-9T>C
|
rs2100803568
|
|
|
NM_000642.3(AGL):c.3260-9T>G
|
|
|
|
NM_000642.3(AGL):c.3264A>G (p.Leu1088=)
|
|
|
|
NM_000642.3(AGL):c.326T>C (p.Val109Ala)
|
|
|
|
NM_000642.3(AGL):c.3270T>C (p.His1090=)
|
|
|
|
NM_000642.3(AGL):c.3276T>C (p.Ser1092=)
|
rs2100803648
|
|
|
NM_000642.3(AGL):c.3279T>C (p.Ser1093=)
|
rs903732071
|
|
|
NM_000642.3(AGL):c.3279T>G (p.Ser1093=)
|
rs903732071
|
|
|
NM_000642.3(AGL):c.3282T>C (p.Gly1094=)
|
|
|
|
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu)
|
rs762157090
|
|
|
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
|
rs762157090
|
|
|
NM_000642.3(AGL):c.3287dup (p.Arg1097fs)
|
|
|
|
NM_000642.3(AGL):c.328del (p.Asp110fs)
|
rs2101087046
|
|
|
NM_000642.3(AGL):c.3291C>T (p.Arg1097=)
|
|
|
|
NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter)
|
rs786204490
|
|
|
NM_000642.3(AGL):c.3299G>A (p.Gly1100Glu)
|
|
|
|
NM_000642.3(AGL):c.3299del (p.Gly1100fs)
|
|
|
|
NM_000642.3(AGL):c.3300A>C (p.Gly1100=)
|
rs2100803771
|
|
|
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
|
|
|
|
NM_000642.3(AGL):c.3303G>A (p.Arg1101=)
|
rs1197553122
|
|
|
NM_000642.3(AGL):c.3309T>C (p.Thr1103=)
|
|
|
|
NM_000642.3(AGL):c.330C>T (p.Asp110=)
|
|
|
|
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
|
rs1653318386
|
|
|
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
|
rs1653318633
|
|
|
NM_000642.3(AGL):c.3314T>C (p.Ile1105Thr)
|
|
|
|
NM_000642.3(AGL):c.3317_3321del (p.Ala1106fs)
|
|
|
|
NM_000642.3(AGL):c.3319C>T (p.Leu1107Phe)
|
|
|
|
NM_000642.3(AGL):c.3327T>G (p.Gly1109=)
|
|
|
|
NM_000642.3(AGL):c.3331C>T (p.Leu1111=)
|
rs1475691182
|
|
|
NM_000642.3(AGL):c.3333G>A (p.Leu1111=)
|
|
|
|
NM_000642.3(AGL):c.3333G>C (p.Leu1111=)
|
|
|
|
NM_000642.3(AGL):c.3336G>A (p.Leu1112=)
|
|
|
|
NM_000642.3(AGL):c.3339T>A (p.Ile1113=)
|
|
|
|
NM_000642.3(AGL):c.333C>T (p.Pro111=)
|
rs1650111656
|
|
|
NM_000642.3(AGL):c.3347G>A (p.Arg1116His)
|
rs746779518
|
|
|
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu)
|
rs746779518
|
|
|
NM_000642.3(AGL):c.3349T>C (p.Tyr1117His)
|
|
|
|
NM_000642.3(AGL):c.3351T>C (p.Tyr1117=)
|
rs2100804056
|
|
|
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly)
|
rs1233797859
|
|
|
NM_000642.3(AGL):c.3361A>G (p.Arg1121Gly)
|
|
|
|
NM_000642.3(AGL):c.3362+11C>T
|
rs2100804172
|
|
|
NM_000642.3(AGL):c.3362+15A>G
|
|
|
|
NM_000642.3(AGL):c.3362+15A>T
|
|
|
|
NM_000642.3(AGL):c.3362+1G>A
|
rs1553189468
|
|
|
NM_000642.3(AGL):c.3362+20G>A
|
|
|
|
NM_000642.3(AGL):c.3362+2T>C
|
rs2100804114
|
|
|
NM_000642.3(AGL):c.3362+5G>T
|
rs2100804143
|
|
|
NM_000642.3(AGL):c.3362+8A>G
|
rs920663521
|
|
|
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys)
|
rs1653326843
|
|
|
NM_000642.3(AGL):c.3362G>T (p.Arg1121Met)
|
rs1653326843
|
|
|
NM_000642.3(AGL):c.3363-13T>C
|
|
|
|
NM_000642.3(AGL):c.3363-1G>A
|
rs1057516513
|
|
|
NM_000642.3(AGL):c.3363-7G>A
|
|
|
|
NM_000642.3(AGL):c.3363-8del
|
rs2100817848
|
|
|
NM_000642.3(AGL):c.3363-9T>C
|
rs763907400
|
|
|
NM_000642.3(AGL):c.3363G>A (p.Arg1121=)
|
|
|
|
NM_000642.3(AGL):c.3367A>G (p.Ile1123Val)
|
|
|
|
NM_000642.3(AGL):c.3371T>C (p.Ile1124Thr)
|
rs2100817894
|
|
|
NM_000642.3(AGL):c.3374T>G (p.Leu1125Ter)
|
rs2100817917
|
|
|
NM_000642.3(AGL):c.3375A>G (p.Leu1125=)
|
rs781078526
|
|
|
NM_000642.3(AGL):c.3378A>G (p.Ala1126=)
|
|
|
|
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
|
|
|
|
NM_000642.3(AGL):c.3381T>C (p.Phe1127=)
|
|
|
|
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val)
|
rs1225426505
|
|
|
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
|
rs779241109
|
|
|
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
|
|
|
|
NM_000642.3(AGL):c.3393G>A (p.Leu1131=)
|
rs2100818013
|
|
|
NM_000642.3(AGL):c.3395G>A (p.Arg1132Lys)
|
rs1216059782
|
|
|
NM_000642.3(AGL):c.3405C>T (p.Leu1135=)
|
rs1553190279
|
|
|
NM_000642.3(AGL):c.3411T>A (p.Pro1137=)
|
rs1185628017
|
|
|
NM_000642.3(AGL):c.3414T>C (p.Asn1138=)
|
|
|
|
NM_000642.3(AGL):c.341G>C (p.Arg114Pro)
|
rs150146360
|
|
|
NM_000642.3(AGL):c.3422G>A (p.Gly1141Asp)
|
|
|
|
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
|
|
|
|
NM_000642.3(AGL):c.3431T>C (p.Ile1144Thr)
|
|
|
|
NM_000642.3(AGL):c.3434_3435del (p.Tyr1145fs)
|
|
|
|
NM_000642.3(AGL):c.3436G>A (p.Ala1146Thr)
|
|
|
|
NM_000642.3(AGL):c.3439A>G (p.Arg1147Gly)
|
rs267606639
|
|
|
NM_000642.3(AGL):c.3439A>T (p.Arg1147Ter)
|
rs267606639
|
|
|
NM_000642.3(AGL):c.3441del (p.Arg1147fs)
|
rs1653759340
|
|
|
NM_000642.3(AGL):c.3443dup (p.Tyr1148Ter)
|
rs1057517079
|
|
|
NM_000642.3(AGL):c.3444C>A (p.Tyr1148Ter)
|
rs776977863
|
|
|
NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter)
|
rs776977863
|
|
|
NM_000642.3(AGL):c.3444C>T (p.Tyr1148=)
|
|
|
|
NM_000642.3(AGL):c.3446A>G (p.Asn1149Ser)
|
|
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
|
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
|
|
|
|
NM_000642.3(AGL):c.3458del (p.Ala1153fs)
|
rs2100818312
|
|
|
NM_000642.3(AGL):c.3459T>C (p.Ala1153=)
|
|
|
|
NM_000642.3(AGL):c.3465G>A (p.Trp1155Ter)
|
rs762547610
|
|
|
NM_000642.3(AGL):c.3470G>A (p.Trp1157Ter)
|
|
|
|
NM_000642.3(AGL):c.3474G>A (p.Leu1158=)
|
rs2100818347
|
|
|
NM_000642.3(AGL):c.3477G>C (p.Gln1159His)
|
rs1570482572
|
|
|
NM_000642.3(AGL):c.3479G>A (p.Cys1160Tyr)
|
|
|
|
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter)
|
rs763652784
|
|
|
NM_000642.3(AGL):c.3481_3589-405del
|
|
|
|
NM_000642.3(AGL):c.3481_3589-407del
|
|
|
|
NM_000642.3(AGL):c.3484C>T (p.Gln1162Ter)
|
rs2100818414
|
|
|
NM_000642.3(AGL):c.3486G>C (p.Gln1162His)
|
|
|
|
NM_000642.3(AGL):c.3488A>G (p.Asp1163Gly)
|
rs2100818432
|
|
|
NM_000642.3(AGL):c.348_373del (p.Ala117fs)
|
rs1057516308
|
|
|
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)
|
rs370202718
|
|
|
NM_000642.3(AGL):c.3492C>T (p.Tyr1164=)
|
rs370202718
|
|
|
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser)
|
rs1570482637
|
|
|
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
|
|
|
|
NM_000642.3(AGL):c.3508A>T (p.Asn1170Tyr)
|
rs1236655933
|
|
|
NM_000642.3(AGL):c.3510T>C (p.Asn1170=)
|
|
|
|
NM_000642.3(AGL):c.3519C>T (p.Asp1173=)
|
rs755972640
|
|
|
NM_000642.3(AGL):c.351T>C (p.Ala117=)
|
|
|
|
NM_000642.3(AGL):c.3525C>T (p.Leu1175=)
|
|
|
|
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
|
rs1653766997
|
|
|
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe)
|
rs1553190315
|
|
|
NM_000642.3(AGL):c.3538del (p.Ser1180fs)
|
rs1553190316
|
|
|
NM_000642.3(AGL):c.3543A>G (p.Arg1181=)
|
|
|
|
NM_000642.3(AGL):c.3544_3551dup (p.Thr1185fs)
|
rs770701389
|
|
|
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile)
|
rs758562610
|
|
|
NM_000642.3(AGL):c.3549T>G (p.Tyr1183Ter)
|
|
|
|
NM_000642.3(AGL):c.3550C>A (p.Pro1184Thr)
|
|
|
|
NM_000642.3(AGL):c.3557A>G (p.Asp1186Gly)
|
|
|
|
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
|
rs2100818758
|
|
|
NM_000642.3(AGL):c.3565G>T (p.Ala1189Ser)
|
|
|
|
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
|
rs1329252752
|
|
|
NM_000642.3(AGL):c.3577G>A (p.Ala1193Thr)
|
rs2100818799
|
|
|
NM_000642.3(AGL):c.3578C>T (p.Ala1193Val)
|
|
|
|
NM_000642.3(AGL):c.3579T>A (p.Ala1193=)
|
|
|
|
NM_000642.3(AGL):c.3579T>C (p.Ala1193=)
|
rs2100818821
|
|
|
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
|
rs370685884
|
|
|
NM_000642.3(AGL):c.3582C>T (p.Gly1194=)
|
|
|
|
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile)
|
rs148930543
|
|
|
NM_000642.3(AGL):c.3588+14T>C
|
|
|
|
NM_000642.3(AGL):c.3588+18A>C
|
|
|
|
NM_000642.3(AGL):c.3588+19A>C
|
|
|
|
NM_000642.3(AGL):c.3588+1G>A
|
|
|
|
NM_000642.3(AGL):c.3588+20T>A
|
|
|
|
NM_000642.3(AGL):c.3588+29_3588+36del
|
|
|
|
NM_000642.3(AGL):c.3588+6G>A
|
rs878931687
|
|
|
NM_000642.3(AGL):c.3588+8T>C
|
|
|
|
NM_000642.3(AGL):c.3588_3588+14del
|
|
|
|
NM_000642.3(AGL):c.3588_3588+2del
|
|
|
|
NM_000642.3(AGL):c.3589-13A>G
|
|
|
|
NM_000642.3(AGL):c.3589-14T>C
|
rs886044920
|
|
|
NM_000642.3(AGL):c.3589-14T>G
|
rs886044920
|
|
|
NM_000642.3(AGL):c.3589-16A>C
|
|
|
|
NM_000642.3(AGL):c.3589-16A>G
|
|
|
|
NM_000642.3(AGL):c.3589-18C>G
|
|
|
|
NM_000642.3(AGL):c.3589-1G>A
|
rs1289339080
|
|
|
NM_000642.3(AGL):c.3589-20A>G
|
|
|
|
NM_000642.3(AGL):c.3589-3C>G
|
rs1653935585
|
|
|
NM_000642.3(AGL):c.3589-7C>T
|
rs2100824673
|
|
|
NM_000642.3(AGL):c.3593A>G (p.Gln1198Arg)
|
|
|
|
NM_000642.3(AGL):c.359A>G (p.His120Arg)
|
|
|
|
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
|
|
|
|
NM_000642.3(AGL):c.3606A>G (p.Glu1202=)
|
|
|
|
NM_000642.3(AGL):c.3609C>G (p.Val1203=)
|
|
|
|
NM_000642.3(AGL):c.3609C>T (p.Val1203=)
|
|
|
|
NM_000642.3(AGL):c.3610A>G (p.Ile1204Val)
|
|
|
|
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu)
|
rs775498547
|
|
|
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter)
|
rs775498547
|
|
|
NM_000642.3(AGL):c.3622A>G (p.Met1208Val)
|
|
|
|
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
|
rs1244477744
|
|
|
NM_000642.3(AGL):c.3630del (p.Lys1210fs)
|
rs1653938652
|
|
|
NM_000642.3(AGL):c.3633C>T (p.His1211=)
|
rs755349696
|
|
|
NM_000642.3(AGL):c.3634A>G (p.Met1212Val)
|
rs1653939546
|
|
|
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
|
rs1653939546
|
|
|
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile)
|
rs1570487362
|
|
|
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)
|
rs1570487381
|
|
|
NM_000642.3(AGL):c.3639G>A (p.Gln1213=)
|
rs1213904866
|
|
|
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
|
rs1213904866
|
|
|
NM_000642.3(AGL):c.3640G>A (p.Gly1214Ser)
|
|
|
|
NM_000642.3(AGL):c.3648G>A (p.Gln1216=)
|
|
|
|
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
|
rs771853367
|
|
|
NM_000642.3(AGL):c.365T>C (p.Leu122Pro)
|
rs1557747438
|
|
|
NM_000642.3(AGL):c.3660G>A (p.Arg1220=)
|
|
|
|
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
|
|
|
|
NM_000642.3(AGL):c.3665del (p.Ala1222fs)
|
|
|
|
NM_000642.3(AGL):c.3666T>A (p.Ala1222=)
|
|
|
|
NM_000642.3(AGL):c.3666T>C (p.Ala1222=)
|
rs1405081089
|
|
|
NM_000642.3(AGL):c.3669T>C (p.Gly1223=)
|
|
|
|
NM_000642.3(AGL):c.366A>T (p.Leu122=)
|
rs1386596170
|
|
|
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser)
|
rs1417784168
|
|
|
NM_000642.3(AGL):c.3674_3696del (p.Gln1225fs)
|
rs1553190751
|
|
|
NM_000642.3(AGL):c.3677T>A (p.Ile1226Lys)
|
|
|
|
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
|
rs749118487
|
|
|
NM_000642.3(AGL):c.3679G>C (p.Asp1227His)
|
|
|
|
NM_000642.3(AGL):c.3681T>C (p.Asp1227=)
|
|
|
|
NM_000642.3(AGL):c.3682C>A (p.Arg1228=)
|
rs113994131
|
|
|
NM_000642.3(AGL):c.3688A>G (p.Met1230Val)
|
|
|
|
NM_000642.3(AGL):c.3689T>A (p.Met1230Lys)
|
|
|
|
NM_000642.3(AGL):c.368C>T (p.Pro123Leu)
|
rs138607658
|
|
|
NM_000642.3(AGL):c.3697G>T (p.Glu1233Ter)
|
rs375254875
|
|
|
NM_000642.3(AGL):c.369C>T (p.Pro123=)
|
|
|
|
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs)
|
rs762545015
|
|
|
NM_000642.3(AGL):c.3700+12T>A
|
|
|
|
NM_000642.3(AGL):c.3700+12T>C
|
|
|
|
NM_000642.3(AGL):c.3700+15_3700+18del
|
rs1284709970
|
|
|
NM_000642.3(AGL):c.3700+1G>A
|
rs2100825216
|
|
|
NM_000642.3(AGL):c.3700+2T>C
|
|
|
|
NM_000642.3(AGL):c.3700+6G>A
|
rs1653947633
|
|
|
NM_000642.3(AGL):c.3700+9C>T
|
rs892325505
|
|
|
NM_000642.3(AGL):c.3701-10T>G
|
|
|
|
NM_000642.3(AGL):c.3701-14_3701-10del
|
|
|
|
NM_000642.3(AGL):c.3701-15C>A
|
|
|
|
NM_000642.3(AGL):c.3701-2A>G
|
|
|
|
NM_000642.3(AGL):c.3701-5T>C
|
|
|
|
NM_000642.3(AGL):c.3701-5T>G
|
rs1057523410
|
|
|
NM_000642.3(AGL):c.3701-9G>T
|
|
|
|
NM_000642.3(AGL):c.3706A>C (p.Asn1236His)
|
|
|
|
NM_000642.3(AGL):c.3707_3714dup (p.Ala1239delinsIleTer)
|
rs752425529
|
|
|
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter)
|
rs1654687449
|
|
|
NM_000642.3(AGL):c.3727G>A (p.Glu1243Lys)
|
|
|
|
NM_000642.3(AGL):c.372G>A (p.Leu124=)
|
rs1650116520
|
|
|
NM_000642.3(AGL):c.3730G>A (p.Glu1244Lys)
|
|
|
|
NM_000642.3(AGL):c.3732A>G (p.Glu1244=)
|
|
|
|
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
|
|
|
|
NM_000642.3(AGL):c.3738A>C (p.Gly1246=)
|
rs780617757
|
|
|
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
|
|
|
|
NM_000642.3(AGL):c.3747dup (p.Gly1250fs)
|
rs1654690647
|
|
|
NM_000642.3(AGL):c.3754A>G (p.Asn1252Asp)
|
|
|
|
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
|
rs1654691063
|
|
|
NM_000642.3(AGL):c.3756dup (p.Arg1253fs)
|
rs2100849117
|
|
|
NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys)
|
|
|
|
NM_000642.3(AGL):c.3767G>T (p.Cys1256Phe)
|
|
|
|
NM_000642.3(AGL):c.3771del (p.Thr1258fs)
|
|
|
|
NM_000642.3(AGL):c.3772_3776del (p.Thr1258fs)
|
rs2100849229
|
|
|
NM_000642.3(AGL):c.3774A>G (p.Thr1258=)
|
rs369393783
|
|
|
NM_000642.3(AGL):c.3777_3778delinsAC (p.Trp1259_Met1260delinsTer)
|
rs2100849251
|
|
|
NM_000642.3(AGL):c.3778A>T (p.Met1260Leu)
|
rs2100849258
|
|
|
NM_000642.3(AGL):c.3781G>A (p.Asp1261Asn)
|
rs2100849278
|
|
|
NM_000642.3(AGL):c.3787del (p.Met1263fs)
|
|
|
|
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
|
rs1654694671
|
|
|
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)
|
rs1553183359
|
|
|
NM_000642.3(AGL):c.3790G>A (p.Gly1264Arg)
|
|
|
|
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
|
|
|
|
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)
|
rs1654695322
|
|
|
NM_000642.3(AGL):c.3796A>G (p.Ser1266Gly)
|
|
|
|
NM_000642.3(AGL):c.3798T>C (p.Ser1266=)
|
|
|
|
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
|
rs1654696617
|
|
|
NM_000642.3(AGL):c.3805G>A (p.Ala1269Thr)
|
|
|
|
NM_000642.3(AGL):c.3807dup (p.Arg1270Ter)
|
rs1057517017
|
|
|
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs)
|
rs867341758
|
|
|
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
|
rs765807203
|
|
|
NM_000642.3(AGL):c.382dup (p.Thr128fs)
|
|
|
|
NM_000642.3(AGL):c.3833C>T (p.Pro1278Leu)
|
|
|
|
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter)
|
rs1654701324
|
|
|
NM_000642.3(AGL):c.3836+12G>A
|
|
|
|
NM_000642.3(AGL):c.3836+14T>C
|
|
|
|
NM_000642.3(AGL):c.3836+16T>C
|
|
|
|
NM_000642.3(AGL):c.3836+1_3836+2dup
|
rs1553192407
|
|
|
NM_000642.3(AGL):c.3836+7T>G
|
|
|
|
NM_000642.3(AGL):c.3837-14T>A
|
|
|
|
NM_000642.3(AGL):c.3837-14T>G
|
|
|
|
NM_000642.3(AGL):c.3837-15G>T
|
|
|
|
NM_000642.3(AGL):c.3837-16C>A
|
rs200553466
|
|
|
NM_000642.3(AGL):c.3837-16C>T
|
|
|
|
NM_000642.3(AGL):c.3837-19A>G
|
|
|
|
NM_000642.3(AGL):c.3837-1G>A
|
rs1570508240
|
|
|
NM_000642.3(AGL):c.3837A>G (p.Arg1279=)
|
|
|
|
NM_000642.3(AGL):c.3838G>T (p.Asp1280Tyr)
|
|
|
|
NM_000642.3(AGL):c.3843G>T (p.Gly1281=)
|
|
|
|
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
|
rs1654811795
|
|
|
NM_000642.3(AGL):c.3846T>C (p.Ser1282=)
|
|
|
|
NM_000642.3(AGL):c.384T>C (p.Thr128=)
|
rs1571227820
|
|
|
NM_000642.3(AGL):c.3858T>C (p.Ile1286=)
|
rs777733324
|
|
|
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
|
rs749109793
|
|
|
NM_000642.3(AGL):c.385C>T (p.Leu129Phe)
|
rs749109793
|
|
|
NM_000642.3(AGL):c.3863G>C (p.Gly1288Ala)
|
rs1333279828
|
|
|
NM_000642.3(AGL):c.3869G>A (p.Ser1290Asn)
|
|
|
|
NM_000642.3(AGL):c.3871A>T (p.Lys1291Ter)
|
|
|
|
NM_000642.3(AGL):c.3879T>C (p.Ala1293=)
|
rs2100854464
|
|
|
NM_000642.3(AGL):c.3879T>G (p.Ala1293=)
|
|
|
|
NM_000642.3(AGL):c.3882T>A (p.Val1294=)
|
rs1570508414
|
|
|
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
|
|
|
|
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly)
|
rs1238498134
|
|
|
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu)
|
rs140481863
|
|
|
NM_000642.3(AGL):c.388C>T (p.Gln130Ter)
|
|
|
|
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter)
|
rs1654817532
|
|
|
NM_000642.3(AGL):c.3897A>C (p.Glu1299Asp)
|
rs2100854534
|
|
|
NM_000642.3(AGL):c.3897A>G (p.Glu1299=)
|
|
|
|
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter)
|
rs1654818141
|
|
|
NM_000642.3(AGL):c.3903C>A (p.Ser1301=)
|
rs2100854559
|
|
|
NM_000642.3(AGL):c.3911del (p.Asn1304fs)
|
rs745757264
|
|
|
NM_000642.3(AGL):c.3911dup (p.Asn1304fs)
|
rs745757264
|
|
|
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys)
|
rs1570508523
|
|
|
NM_000642.3(AGL):c.3921T>G (p.Pro1307=)
|
|
|
|
NM_000642.3(AGL):c.3924T>C (p.Tyr1308=)
|
rs142335994
|
|
|
NM_000642.3(AGL):c.3925_3927del (p.His1309del)
|
|
|
|
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
|
rs1200885928
|
|
|
NM_000642.3(AGL):c.3928G>T (p.Glu1310Ter)
|
rs2100854670
|
|
|
NM_000642.3(AGL):c.3933C>T (p.Val1311=)
|
|
|
|
NM_000642.3(AGL):c.3936A>C (p.Thr1312=)
|
rs1239139705
|
|
|
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly)
|
rs1557789904
|
|
|
NM_000642.3(AGL):c.3939A>G (p.Val1313=)
|
|
|
|
NM_000642.3(AGL):c.3941_3949+12del
|
rs1553192718
|
|
|
NM_000642.3(AGL):c.3948T>C (p.His1316=)
|
|
|
|
NM_000642.3(AGL):c.3949+12A>G
|
|
|
|
NM_000642.3(AGL):c.3949+13T>C
|
|
|
|
NM_000642.3(AGL):c.3949+1G>C
|
|
|
|
NM_000642.3(AGL):c.3949+20del
|
rs780077211
|
|
|
NM_000642.3(AGL):c.3949+8_3949+9del
|
|
|
|
NM_000642.3(AGL):c.3949+9G>A
|
rs2100854765
|
|
|
NM_000642.3(AGL):c.3950-13T>C
|
|
|
|
NM_000642.3(AGL):c.3950-15del
|
|
|
|
NM_000642.3(AGL):c.3950-17C>T
|
rs563757318
|
|
|
NM_000642.3(AGL):c.3950-8T>C
|
|
|
|
NM_000642.3(AGL):c.3955G>C (p.Ala1319Pro)
|
|
|
|
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
|
rs756393699
|
|
|
NM_000642.3(AGL):c.3958A>G (p.Ile1320Val)
|
|
|
|
NM_000642.3(AGL):c.3963G>C (p.Lys1321Asn)
|
rs1198045021
|
|
|
NM_000642.3(AGL):c.3964G>C (p.Val1322Leu)
|
|
|
|
NM_000642.3(AGL):c.3969A>G (p.Ser1323=)
|
|
|
|
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
|
|
|
|
NM_000642.3(AGL):c.3975T>C (p.Asp1325=)
|
rs1384952800
|
|
|
NM_000642.3(AGL):c.3984C>T (p.Asn1328=)
|
rs1298964080
|
|
|
NM_000642.3(AGL):c.3985A>C (p.Arg1329=)
|
rs777095374
|
|
|
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
|
rs1654904369
|
|
|
NM_000642.3(AGL):c.3994C>A (p.Gln1332Lys)
|
|
|
|
NM_000642.3(AGL):c.3995A>C (p.Gln1332Pro)
|
|
|
|
NM_000642.3(AGL):c.3999C>T (p.Asp1333=)
|
|
|
|
NM_000642.3(AGL):c.3G>C (p.Met1Ile)
|
rs1553181400
|
|
|
NM_000642.3(AGL):c.4001A>C (p.Asn1334Thr)
|
|
|
|
NM_000642.3(AGL):c.4002C>T (p.Asn1334=)
|
rs1654905839
|
|
|
NM_000642.3(AGL):c.4014A>G (p.Leu1338=)
|
rs939205432
|
|
|
NM_000642.3(AGL):c.401C>G (p.Ala134Gly)
|
|
|
|
NM_000642.3(AGL):c.401_460+75delinsTATTACAT
|
|
|
|
NM_000642.3(AGL):c.4024del (p.Ser1342fs)
|
|
|
|
NM_000642.3(AGL):c.4027G>T (p.Glu1343Ter)
|
rs112795811
|
|
|
NM_000642.3(AGL):c.402T>C (p.Ala134=)
|
|
|
|
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu)
|
rs1553192908
|
|
|
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
|
rs757161555
|
|
|
NM_000642.3(AGL):c.4043T>G (p.Leu1348Ter)
|
rs1654908371
|
|
|
NM_000642.3(AGL):c.4053G>A (p.Lys1351=)
|
rs1570511119
|
|
|
NM_000642.3(AGL):c.405G>C (p.Lys135Asn)
|
|
|
|
NM_000642.3(AGL):c.4064T>A (p.Leu1355Gln)
|
rs2100859879
|
|
|
NM_000642.3(AGL):c.4075C>T (p.Arg1359Cys)
|
|
|
|
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
|
rs1397039239
|
|
|
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met)
|
rs897156043
|
|
|
NM_000642.3(AGL):c.4083A>T (p.Ile1361=)
|
rs897156043
|
|
|
NM_000642.3(AGL):c.4087A>T (p.Lys1363Ter)
|
rs1654912428
|
|
|
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
|
|
|
|
NM_000642.3(AGL):c.4092T>C (p.Asp1364=)
|
rs2100860095
|
|
|
NM_000642.3(AGL):c.4093A>G (p.Ser1365Gly)
|
|
|
|
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
|
|
|
|
NM_000642.3(AGL):c.409T>C (p.Leu137=)
|
|
|
|
NM_000642.3(AGL):c.4100del (p.Gly1367fs)
|
rs777120567
|
|
|
NM_000642.3(AGL):c.4101A>G (p.Gly1367=)
|
rs1361270660
|
|
|
NM_000642.3(AGL):c.4105T>C (p.Ser1369Pro)
|
rs2100860247
|
|
|
NM_000642.3(AGL):c.4108A>G (p.Ser1370Gly)
|
rs1483370301
|
|
|
NM_000642.3(AGL):c.410_413del (p.Leu137fs)
|
rs2101087361
|
|
|
NM_000642.3(AGL):c.4113T>C (p.Pro1371=)
|
rs2100860295
|
|
|
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter)
|
rs1183383313
|
|
|
NM_000642.3(AGL):c.4116G>A (p.Trp1372Ter)
|
|
|
|
NM_000642.3(AGL):c.4118G>C (p.Cys1373Ser)
|
|
|
|
NM_000642.3(AGL):c.4119T>C (p.Cys1373=)
|
rs1057521342
|
|
|
NM_000642.3(AGL):c.411G>A (p.Leu137=)
|
|
|
|
NM_000642.3(AGL):c.4120G>C (p.Asp1374His)
|
rs1553192955
|
|
|
NM_000642.3(AGL):c.4126C>T (p.Gln1376Ter)
|
rs762602838
|
|
|
NM_000642.3(AGL):c.4131C>T (p.Leu1377=)
|
rs751505814
|
|
|
NM_000642.3(AGL):c.4134G>A (p.Arg1378=)
|
|
|
|
NM_000642.3(AGL):c.414A>G (p.Gly138=)
|
|
|
|
NM_000642.3(AGL):c.4152A>G (p.Ala1384=)
|
|
|
|
NM_000642.3(AGL):c.4153A>G (p.Met1385Val)
|
|
|
|
NM_000642.3(AGL):c.4161+10T>G
|
rs2100860698
|
|
|
NM_000642.3(AGL):c.4161+10dup
|
|
|
|
NM_000642.3(AGL):c.4161+11C>G
|
rs886038361
|
|
|
NM_000642.3(AGL):c.4161+12G>A
|
rs371422723
|
|
|
NM_000642.3(AGL):c.4161+12G>T
|
|
|
|
NM_000642.3(AGL):c.4161+13T>C
|
|
|
|
NM_000642.3(AGL):c.4161+15T>C
|
|
|
|
NM_000642.3(AGL):c.4161+18A>G
|
|
|
|
NM_000642.3(AGL):c.4161+18A>T
|
|
|
|
NM_000642.3(AGL):c.4161+5G>A
|
|
|
|
NM_000642.3(AGL):c.4162-10C>T
|
|
|
|
NM_000642.3(AGL):c.4162-11G>A
|
rs184309460
|
|
|
NM_000642.3(AGL):c.4162-11G>T
|
|
|
|
NM_000642.3(AGL):c.4162-12G>C
|
rs755337032
|
|
|
NM_000642.3(AGL):c.4162-15T>C
|
rs767424449
|
|
|
NM_000642.3(AGL):c.4162-18G>C
|
|
|
|
NM_000642.3(AGL):c.4162-1G>A
|
rs1490339052
|
|
|
NM_000642.3(AGL):c.4162-20T>C
|
|
|
|
NM_000642.3(AGL):c.4162-2A>T
|
|
|
|
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
|
|
|
|
NM_000642.3(AGL):c.4164C>T (p.Ala1388=)
|
rs142809832
|
|
|
NM_000642.3(AGL):c.4165_4166del (p.Ala1388_Pro1389insTer)
|
rs1293077915
|
|
|
NM_000642.3(AGL):c.4166C>G (p.Pro1389Arg)
|
rs2100868485
|
|
|
NM_000642.3(AGL):c.4169A>T (p.Glu1390Val)
|
|
|
|
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp)
|
rs1570514873
|
|
|
NM_000642.3(AGL):c.4173C>T (p.Leu1391=)
|
|
|
|
NM_000642.3(AGL):c.4175_4176del (p.Phe1392fs)
|
rs1057517405
|
|
|
NM_000642.3(AGL):c.4176T>C (p.Phe1392=)
|
|
|
|
NM_000642.3(AGL):c.4176dup (p.Thr1393fs)
|
|
|
|
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
|
rs781588707
|
|
|
NM_000642.3(AGL):c.4181C>T (p.Thr1394Ile)
|
|
|
|
NM_000642.3(AGL):c.4182A>G (p.Thr1394=)
|
rs756382269
|
|
|
NM_000642.3(AGL):c.4183G>C (p.Glu1395Gln)
|
rs780593883
|
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
|
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter)
|
rs1344484845
|
|
|
NM_000642.3(AGL):c.4197A>G (p.Lys1399=)
|
|
|
|
NM_000642.3(AGL):c.4197del (p.Ala1400fs)
|
rs786204595
|
|
|
NM_000642.3(AGL):c.4198G>T (p.Ala1400Ser)
|
|
|
|
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
|
|
|
|
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)
|
rs772976797
|
|
|
NM_000642.3(AGL):c.4209T>C (p.Ile1403=)
|
rs1553193234
|
|
|
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met)
|
rs1553193234
|
|
|
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)
|
rs1300198233
|
|
|
NM_000642.3(AGL):c.420del (p.Phe140fs)
|
rs1406033695
|
|
|
NM_000642.3(AGL):c.4213G>A (p.Glu1405Lys)
|
|
|
|
NM_000642.3(AGL):c.4220_4221del (p.Lys1407fs)
|
rs786204655
|
|
|
NM_000642.3(AGL):c.4221A>G (p.Lys1407=)
|
rs1655045275
|
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
|
NM_000642.3(AGL):c.4222T>C (p.Leu1408=)
|
rs2100869019
|
|
|
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val)
|
rs758570060
|
|
|
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
|
rs758570060
|
|
|
NM_000642.3(AGL):c.4230T>A (p.Gly1410=)
|
|
|
|
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser)
|
rs1557792779
|
|
|
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
|
rs1655046172
|
|
|
NM_000642.3(AGL):c.4233C>T (p.Pro1411=)
|
|
|
|
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
|
|
|
|
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
|
|
|
|
NM_000642.3(AGL):c.4250T>A (p.Leu1417Ter)
|
|
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
|
NM_000642.3(AGL):c.4251A>G (p.Leu1417=)
|
|
|
|
NM_000642.3(AGL):c.4253A>C (p.Asp1418Ala)
|
|
|
|
NM_000642.3(AGL):c.4255C>A (p.Pro1419Thr)
|
|
|
|
NM_000642.3(AGL):c.4255_4259+150del
|
|
|
|
NM_000642.3(AGL):c.4256del (p.Pro1419fs)
|
rs1557792839
|
|
|
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
|
|
|
|
NM_000642.3(AGL):c.4258_4259insGGAGATTCCTTAAAGAACTAAAAGTAGGCTCNNNNNAAAAAGAAAACTTTAGATCCAG (p.Asp1420fs)
|
rs2100869173
|
|
|
NM_000642.3(AGL):c.4259+11A>G
|
|
|
|
NM_000642.3(AGL):c.4259+15A>G
|
|
|
|
NM_000642.3(AGL):c.4259+17G>A
|
rs374758994
|
|
|
NM_000642.3(AGL):c.4259+17G>C
|
|
|
|
NM_000642.3(AGL):c.4259+20T>C
|
rs2100869451
|
|
|
NM_000642.3(AGL):c.4259+3A>T
|
rs1655048891
|
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
|
NM_000642.3(AGL):c.4259+8G>T
|
|
|
|
NM_000642.3(AGL):c.4260-10C>T
|
rs2100874342
|
|
|
NM_000642.3(AGL):c.4260-12A>T
|
|
|
|
NM_000642.3(AGL):c.4260-13A>G
|
|
|
|
NM_000642.3(AGL):c.4260-18A>G
|
|
|
|
NM_000642.3(AGL):c.4260-1G>A
|
|
|
|
NM_000642.3(AGL):c.4260-1G>T
|
|
|
|
NM_000642.3(AGL):c.4260-25_4260-15del
|
|
|
|
NM_000642.3(AGL):c.4260-2A>C
|
|
|
|
NM_000642.3(AGL):c.4260-4G>T
|
rs767426474
|
|
|
NM_000642.3(AGL):c.4260-7T>A
|
|
|
|
NM_000642.3(AGL):c.4260-9A>G
|
rs2100874357
|
|
|
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
|
rs750525703
|
|
|
NM_000642.3(AGL):c.4263T>C (p.Asp1421=)
|
rs200603266
|
|
|
NM_000642.3(AGL):c.4265T>C (p.Met1422Thr)
|
|
|
|
NM_000642.3(AGL):c.4268T>C (p.Val1423Ala)
|
|
|
|
NM_000642.3(AGL):c.4270T>C (p.Tyr1424His)
|
|
|
|
NM_000642.3(AGL):c.4270dup (p.Tyr1424fs)
|
rs1655117230
|
|
|
NM_000642.3(AGL):c.4272C>T (p.Tyr1424=)
|
|
|
|
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter)
|
rs1655117886
|
|
|
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
|
|
|
|
NM_000642.3(AGL):c.4284T>G (p.Tyr1428Ter)
|
|
|
|
NM_000642.3(AGL):c.4290T>C (p.Asn1430=)
|
rs886038362
|
|
|
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
|
|
|
|
NM_000642.3(AGL):c.4297G>A (p.Asp1433Asn)
|
|
|
|
NM_000642.3(AGL):c.4302T>C (p.Asn1434=)
|
rs2100874746
|
|
|
NM_000642.3(AGL):c.4310A>G (p.Tyr1437Cys)
|
rs902469758
|
|
|
NM_000642.3(AGL):c.4311C>G (p.Tyr1437Ter)
|
rs760889909
|
|
|
NM_000642.3(AGL):c.4320T>C (p.Ala1440=)
|
|
|
|
NM_000642.3(AGL):c.4322_4323dup (p.Gly1442fs)
|
rs1057516994
|
|
|
NM_000642.3(AGL):c.4323del (p.Gly1442fs)
|
rs1057516994
|
|
|
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
|
rs1281131845
|
|
|
NM_000642.3(AGL):c.4326T>C (p.Gly1442=)
|
|
|
|
NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu)
|
|
|
|
NM_000642.3(AGL):c.4327T>G (p.Phe1443Val)
|
rs760127227
|
|
|
NM_000642.3(AGL):c.4330A>T (p.Asn1444Tyr)
|
|
|
|
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile)
|
rs143815159
|
|
|
NM_000642.3(AGL):c.4335T>C (p.Tyr1445=)
|
rs369635040
|
|
|
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
|
rs1655124280
|
|
|
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
|
rs1655124520
|
|
|
NM_000642.3(AGL):c.4339C>T (p.Gln1447Ter)
|
|
|
|
NM_000642.3(AGL):c.4342G>C (p.Gly1448Arg)
|
rs118203964
|
|
|
NM_000642.3(AGL):c.4344A>T (p.Gly1448=)
|
rs373302638
|
|
|
NM_000642.3(AGL):c.4347+12A>T
|
|
|
|
NM_000642.3(AGL):c.4347+13T>C
|
|
|
|
NM_000642.3(AGL):c.4347+16A>C
|
|
|
|
NM_000642.3(AGL):c.4347+1G>A
|
rs1553193463
|
|
|
NM_000642.3(AGL):c.4347+1G>C
|
rs1553193463
|
|
|
NM_000642.3(AGL):c.4347+1G>T
|
rs1553193463
|
|
|
NM_000642.3(AGL):c.4347+6A>C
|
|
|
|
NM_000642.3(AGL):c.4347T>A (p.Pro1449=)
|
|
|
|
NM_000642.3(AGL):c.4348-15A>C
|
|
|
|
NM_000642.3(AGL):c.4348-17T>C
|
|
|
|
NM_000642.3(AGL):c.4348-2A>T
|
rs1353062665
|
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
|
NM_000642.3(AGL):c.4348-7T>C
|
rs1328440937
|
|
|
NM_000642.3(AGL):c.4348-8T>G
|
|
|
|
NM_000642.3(AGL):c.4348-9C>G
|
|
|
|
NM_000642.3(AGL):c.4348G>T (p.Glu1450Ter)
|
rs1553193486
|
|
|
NM_000642.3(AGL):c.4352G>A (p.Trp1451Ter)
|
rs1557794036
|
|
|
NM_000642.3(AGL):c.4353del (p.Trp1451fs)
|
|
|
|
NM_000642.3(AGL):c.4354C>T (p.Leu1452=)
|
|
|
|
NM_000642.3(AGL):c.4356G>C (p.Leu1452=)
|
|
|
|
NM_000642.3(AGL):c.4366G>A (p.Gly1456Arg)
|
|
|
|
NM_000642.3(AGL):c.436dup (p.Arg146fs)
|
|
|
|
NM_000642.3(AGL):c.4371T>G (p.Tyr1457Ter)
|
rs1655136943
|
|
|
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
|
|
|
|
NM_000642.3(AGL):c.437G>T (p.Arg146Ile)
|
|
|
|
NM_000642.3(AGL):c.437del (p.Arg146fs)
|
rs1057517344
|
|
|
NM_000642.3(AGL):c.4383A>T (p.Ala1461=)
|
|
|
|
NM_000642.3(AGL):c.4385_4389dup (p.Tyr1464fs)
|
rs1557794150
|
|
|
NM_000642.3(AGL):c.4386A>G (p.Lys1462=)
|
|
|
|
NM_000642.3(AGL):c.4398C>T (p.Ser1466=)
|
rs865973751
|
|
|
NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe)
|
rs2100876196
|
|
|
NM_000642.3(AGL):c.4405A>G (p.Met1469Val)
|
rs747171944
|
|
|
NM_000642.3(AGL):c.440_441del (p.Leu147fs)
|
|
|
|
NM_000642.3(AGL):c.4410C>T (p.Gly1470=)
|
rs2100876239
|
|
|
NM_000642.3(AGL):c.4418C>A (p.Thr1473Asn)
|
|
|
|
NM_000642.3(AGL):c.4419dup (p.Thr1474fs)
|
rs2100876312
|
|
|
NM_000642.3(AGL):c.4422T>C (p.Thr1474=)
|
|
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
|
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
|
rs574307189
|
|
|
NM_000642.3(AGL):c.442del (p.Arg148fs)
|
rs1057516397
|
|
|
NM_000642.3(AGL):c.4431T>C (p.Thr1477=)
|
|
|
|
NM_000642.3(AGL):c.4436T>A (p.Val1479Asp)
|
|
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
|
NM_000642.3(AGL):c.4441G>T (p.Val1481Phe)
|
|
|
|
NM_000642.3(AGL):c.4448A>G (p.Asn1483Ser)
|
|
|
|
NM_000642.3(AGL):c.4448del (p.Asn1483fs)
|
rs2100876453
|
|
|
NM_000642.3(AGL):c.4449T>C (p.Asn1483=)
|
|
|
|
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
|
rs75076115
|
|
|
NM_000642.3(AGL):c.4452T>G (p.Val1484=)
|
rs1455489944
|
|
|
NM_000642.3(AGL):c.4454T>C (p.Leu1485Pro)
|
|
|
|
NM_000642.3(AGL):c.4455T>G (p.Leu1485=)
|
rs1297003611
|
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
|
NM_000642.3(AGL):c.4460G>A (p.Arg1487Gln)
|
|
|
|
NM_000642.3(AGL):c.4464T>C (p.His1488=)
|
rs2100876734
|
|
|
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del)
|
rs1553193523
|
|
|
NM_000642.3(AGL):c.4473T>C (p.His1491=)
|
rs1553193527
|
|
|
NM_000642.3(AGL):c.4476T>G (p.Leu1492=)
|
rs1655148276
|
|
|
NM_000642.3(AGL):c.4481+15G>A
|
|
|
|
NM_000642.3(AGL):c.4481+19G>T
|
|
|
|
NM_000642.3(AGL):c.4481+1G>C
|
rs1553193529
|
|
|
NM_000642.3(AGL):c.4481+2T>G
|
rs1553193530
|
|
|
NM_000642.3(AGL):c.4481+3A>T
|
rs953882029
|
|
|
NM_000642.3(AGL):c.4481+5G>A
|
|
|
|
NM_000642.3(AGL):c.4481+8A>G
|
|
|
|
NM_000642.3(AGL):c.4482-13T>C
|
|
|
|
NM_000642.3(AGL):c.4482-16C>A
|
|
|
|
NM_000642.3(AGL):c.4482-16C>T
|
|
|
|
NM_000642.3(AGL):c.4482-18G>A
|
rs1057521645
|
|
|
NM_000642.3(AGL):c.4482-19T>C
|
rs370127763
|
|
|
NM_000642.3(AGL):c.4482-6A>G
|
|
|
|
NM_000642.3(AGL):c.4482-7C>T
|
|
|
|
NM_000642.3(AGL):c.4486C>T (p.Pro1496Ser)
|
|
|
|
NM_000642.3(AGL):c.4488T>G (p.Pro1496=)
|
rs1570526626
|
|
|
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)
|
|
|
|
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
|
rs1655510736
|
|
|
NM_000642.3(AGL):c.4500del (p.Pro1501fs)
|
|
|
|
NM_000642.3(AGL):c.4503A>G (p.Pro1501=)
|
rs2100901557
|
|
|
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs)
|
rs1064795728
|
|
|
NM_000642.3(AGL):c.450A>G (p.Ala150=)
|
|
|
|
NM_000642.3(AGL):c.4512C>G (p.Thr1504=)
|
|
|
|
NM_000642.3(AGL):c.4514A>G (p.Asn1505Ser)
|
|
|
|
NM_000642.3(AGL):c.4520A>G (p.Asn1507Ser)
|
|
|
|
NM_000642.3(AGL):c.4521T>C (p.Asn1507=)
|
rs2100901683
|
|
|
NM_000642.3(AGL):c.4524C>T (p.Ala1508=)
|
|
|
|
NM_000642.3(AGL):c.4524_4525delinsAA (p.Gln1509Lys)
|
|
|
|
NM_000642.3(AGL):c.4525del (p.Gln1509fs)
|
|
|
|
NM_000642.3(AGL):c.4532G>T (p.Cys1511Phe)
|
|
|
|
NM_000642.3(AGL):c.4542C>G (p.Ser1514Arg)
|
rs367764339
|
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
|
NM_000642.3(AGL):c.4559G>A (p.Trp1520Ter)
|
rs2100902013
|
|
|
NM_000642.3(AGL):c.4561T>C (p.Ser1521Pro)
|
rs1406341617
|
|
|
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
|
|
|
|
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
|
rs995580660
|
|
|
NM_000642.3(AGL):c.4572T>G (p.Thr1524=)
|
rs1322602688
|
|
|
NM_000642.3(AGL):c.4576C>T (p.Leu1526Phe)
|
|
|
|
NM_000642.3(AGL):c.4578T>G (p.Leu1526=)
|
rs2100902191
|
|
|
NM_000642.3(AGL):c.4578_4579insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGGGGGGCTGCTCCGTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCCAATTGCTACTATTCTT (p.Leu1526_Glu1527insPhePhePhePhePhePheXaaXaaXaaXaaGlyGlyGlyLeuLeuArgAlaLeuGlyProArgGlyAlaArgProLeuLeuGlnProLeuProProGlyArgProIleAlaThrIleLeu)
|
|
|
|
NM_000642.3(AGL):c.4586T>G (p.Leu1529Arg)
|
|
|
|
NM_000642.3(AGL):c.458C>A (p.Ser153Ter)
|
rs1650126015
|
|
|
NM_000642.3(AGL):c.4596A>G (p.Leu1532=)
|
|
|
|
NM_000642.3(AGL):c.4599G>C (p.Ter1533Tyr)
|
rs1655521504
|
|
|
NM_000642.3(AGL):c.460+10G>T
|
|
|
|
NM_000642.3(AGL):c.460+14G>A
|
|
|
|
NM_000642.3(AGL):c.460+15C>T
|
|
|
|
NM_000642.3(AGL):c.460+16T>A
|
|
|
|
NM_000642.3(AGL):c.460+19_460+22del
|
|
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
|
NM_000642.3(AGL):c.460+22_460+27del
|
|
|
|
NM_000642.3(AGL):c.460+24del
|
|
|
|
NM_000642.3(AGL):c.461G>C (p.Gly154Ala)
|
rs199622995
|
|
|
NM_000642.3(AGL):c.471del (p.Met157fs)
|
|
|
|
NM_000642.3(AGL):c.476A>G (p.His159Arg)
|
rs2101093703
|
|
|
NM_000642.3(AGL):c.480T>C (p.Phe160=)
|
|
|
|
NM_000642.3(AGL):c.483C>A (p.Thr161=)
|
|
|
|
NM_000642.3(AGL):c.486A>G (p.Pro162=)
|
|
|
|
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
|
rs1218915839
|
|
|
NM_000642.3(AGL):c.500dup (p.Leu168fs)
|
rs1443902661
|
|
|
NM_000642.3(AGL):c.504A>G (p.Leu168=)
|
rs1650329484
|
|
|
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
|
|
|
|
NM_000642.3(AGL):c.50A>G (p.Lys17Arg)
|
|
|
|
NM_000642.3(AGL):c.513A>G (p.Ser171=)
|
rs1236821933
|
|
|
NM_000642.3(AGL):c.514T>G (p.Cys172Gly)
|
rs2101093781
|
|
|
NM_000642.3(AGL):c.516C>A (p.Cys172Ter)
|
rs1650330685
|
|
|
NM_000642.3(AGL):c.518_520dup (p.Tyr173_Ser174insTyr)
|
|
|
|
NM_000642.3(AGL):c.519C>T (p.Tyr173=)
|
|
|
|
NM_000642.3(AGL):c.51A>G (p.Lys17=)
|
|
|
|
NM_000642.3(AGL):c.525del (p.Ala176fs)
|
rs1571232214
|
|
|
NM_000642.3(AGL):c.52C>T (p.Leu18=)
|
rs2101053563
|
|
|
NM_000642.3(AGL):c.530dup (p.Asn177fs)
|
|
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
|
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
|
|
|
|
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
|
rs2101093877
|
|
|
NM_000642.3(AGL):c.545A>G (p.Asn182Ser)
|
rs2101093877
|
|
|
NM_000642.3(AGL):c.546T>C (p.Asn182=)
|
rs2101093890
|
|
|
NM_000642.3(AGL):c.54G>A (p.Leu18=)
|
|
|
|
NM_000642.3(AGL):c.555T>C (p.Phe185=)
|
rs751772979
|
|
|
NM_000642.3(AGL):c.556T>G (p.Ser186Ala)
|
|
|
|
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
|
|
|
|
NM_000642.3(AGL):c.55del (p.Glu19fs)
|
rs1418531169
|
|
|
NM_000642.3(AGL):c.566A>G (p.Asn189Ser)
|
rs1571232301
|
|
|
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
|
rs1650334882
|
|
|
NM_000642.3(AGL):c.570A>G (p.Arg190=)
|
|
|
|
NM_000642.3(AGL):c.573G>A (p.Lys191=)
|
|
|
|
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
|
rs781491884
|
|
|
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)
|
rs1571232325
|
|
|
NM_000642.3(AGL):c.579del (p.Trp194fs)
|
rs2101094012
|
|
|
NM_000642.3(AGL):c.582del (p.Thr193_Trp194insTer)
|
rs1650336680
|
|
|
NM_000642.3(AGL):c.588T>C (p.Asp196=)
|
|
|
|
NM_000642.3(AGL):c.591T>C (p.Val197=)
|
rs2101094054
|
|
|
NM_000642.3(AGL):c.594A>G (p.Gly198=)
|
rs2101094061
|
|
|
NM_000642.3(AGL):c.594A>T (p.Gly198=)
|
rs2101094061
|
|
|
NM_000642.3(AGL):c.603G>A (p.Val201=)
|
rs1650338034
|
|
|
NM_000642.3(AGL):c.604del (p.Glu202fs)
|
|
|
|
NM_000642.3(AGL):c.605A>T (p.Glu202Val)
|
|
|
|
NM_000642.3(AGL):c.609del (p.Lys203fs)
|
rs1571232404
|
|
|
NM_000642.3(AGL):c.60G>A (p.Lys20=)
|
|
|
|
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
|
rs769238334
|
|
|
NM_000642.3(AGL):c.613A>T (p.Lys205Ter)
|
rs562042076
|
|
|
NM_000642.3(AGL):c.615A>G (p.Lys205=)
|
rs1571232440
|
|
|
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
|
|
|
|
NM_000642.3(AGL):c.619del (p.Glu207fs)
|
|
|
|
NM_000642.3(AGL):c.621A>G (p.Glu207=)
|
rs910311069
|
|
|
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
|
|
|
|
NM_000642.3(AGL):c.623_624delinsAT (p.Trp208Tyr)
|
rs2101094202
|
|
|
NM_000642.3(AGL):c.627T>C (p.Asn209=)
|
|
|
|
NM_000642.3(AGL):c.634_636del (p.Cys212del)
|
|
|
|
NM_000642.3(AGL):c.634del (p.Cys212fs)
|
rs1650343836
|
|
|
NM_000642.3(AGL):c.639T>C (p.Ile213=)
|
rs2101094280
|
|
|
NM_000642.3(AGL):c.643G>A (p.Asp215Asn)
|
|
|
|
NM_000642.3(AGL):c.648T>G (p.Val216=)
|
rs765188709
|
|
|
NM_000642.3(AGL):c.64C>G (p.Leu22Val)
|
rs762204351
|
|
|
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
|
rs762204351
|
|
|
NM_000642.3(AGL):c.64del (p.Leu22fs)
|
rs1057517057
|
|
|
NM_000642.3(AGL):c.654C>A (p.Tyr218Ter)
|
|
|
|
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)
|
|
|
|
NM_000642.3(AGL):c.657T>C (p.Asn219=)
|
|
|
|
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
|
rs1415593167
|
|
|
NM_000642.3(AGL):c.664+13T>C
|
|
|
|
NM_000642.3(AGL):c.664+19G>A
|
rs2101094397
|
|
|
NM_000642.3(AGL):c.664+1G>A
|
rs61811105
|
|
|
NM_000642.3(AGL):c.664+1G>C
|
rs61811105
|
|
|
NM_000642.3(AGL):c.664+2T>C
|
rs1650347038
|
|
|
NM_000642.3(AGL):c.664+7G>A
|
rs1650347378
|
|
|
NM_000642.3(AGL):c.665-21_665-19del
|
rs2101111866
|
|
|
NM_000642.3(AGL):c.665-2A>G
|
|
|
|
NM_000642.3(AGL):c.665-7C>T
|
rs765019524
|
|
|
NM_000642.3(AGL):c.665-8dup
|
|
|
|
NM_000642.3(AGL):c.667del (p.Ala223fs)
|
|
|
|
NM_000642.3(AGL):c.66C>G (p.Leu22=)
|
rs1648915915
|
|
|
NM_000642.3(AGL):c.66C>T (p.Leu22=)
|
|
|
|
NM_000642.3(AGL):c.671del (p.Asn224fs)
|
rs2101111970
|
|
|
NM_000642.3(AGL):c.672dup (p.Ser225Ter)
|
rs1057516471
|
|
|
NM_000642.3(AGL):c.673A>G (p.Ser225Gly)
|
|
|
|
NM_000642.3(AGL):c.677A>G (p.Lys226Arg)
|
rs2101112006
|
|
|
NM_000642.3(AGL):c.680G>A (p.Trp227Ter)
|
rs145929061
|
|
|
NM_000642.3(AGL):c.681G>A (p.Trp227Ter)
|
rs753914653
|
|
|
NM_000642.3(AGL):c.68T>A (p.Phe23Tyr)
|
rs1342547734
|
|
|
NM_000642.3(AGL):c.696A>G (p.Pro232=)
|
rs1369758611
|
|
|
NM_000642.3(AGL):c.6A>C (p.Gly2=)
|
|
|
|
NM_000642.3(AGL):c.6A>G (p.Gly2=)
|
|
|
|
NM_000642.3(AGL):c.703G>A (p.Ala235Thr)
|
rs1571242911
|
|
|
NM_000642.3(AGL):c.716dup (p.Asn240fs)
|
rs2101112150
|
|
|
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
|
rs772905291
|
|
|
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
|
rs772905291
|
|
|
NM_000642.3(AGL):c.722C>A (p.Ser241Tyr)
|
rs2101112172
|
|
|
NM_000642.3(AGL):c.724C>T (p.Pro242Ser)
|
rs530123638
|
|
|
NM_000642.3(AGL):c.726A>G (p.Pro242=)
|
|
|
|
NM_000642.3(AGL):c.729C>T (p.His243=)
|
rs2101112196
|
|
|
NM_000642.3(AGL):c.735A>G (p.Lys245=)
|
rs1296061982
|
|
|
NM_000642.3(AGL):c.736C>T (p.Pro246Ser)
|
rs370391954
|
|
|
NM_000642.3(AGL):c.738T>C (p.Pro246=)
|
rs2101112216
|
|
|
NM_000642.3(AGL):c.742T>C (p.Trp248Arg)
|
rs2101112237
|
|
|
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
|
|
|
|
NM_000642.3(AGL):c.747C>G (p.Val249=)
|
|
|
|
NM_000642.3(AGL):c.74_75del (p.Leu25fs)
|
rs2101053661
|
|
|
NM_000642.3(AGL):c.753_756del (p.Asp251fs)
|
rs748789700
|
|
|
NM_000642.3(AGL):c.757G>C (p.Ala253Pro)
|
rs745379427
|
|
|
NM_000642.3(AGL):c.757G>T (p.Ala253Ser)
|
rs745379427
|
|
|
NM_000642.3(AGL):c.758C>G (p.Ala253Gly)
|
|
|
|
NM_000642.3(AGL):c.763T>C (p.Trp255Arg)
|
|
|
|
NM_000642.3(AGL):c.76G>C (p.Glu26Gln)
|
|
|
|
NM_000642.3(AGL):c.771C>G (p.Phe257Leu)
|
|
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
|
NM_000642.3(AGL):c.782T>C (p.Val261Ala)
|
|
|
|
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
|
rs1571243125
|
|
|
NM_000642.3(AGL):c.783T>G (p.Val261=)
|
|
|
|
NM_000642.3(AGL):c.786A>G (p.Ala262=)
|
rs2101112430
|
|
|
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
|
rs1441216143
|
|
|
NM_000642.3(AGL):c.795del (p.Lys265fs)
|
|
|
|
NM_000642.3(AGL):c.801A>C (p.Lys267Asn)
|
|
|
|
NM_000642.3(AGL):c.805A>G (p.Lys269Glu)
|
rs1650900393
|
|
|
NM_000642.3(AGL):c.808G>T (p.Gly270Ter)
|
|
|
|
NM_000642.3(AGL):c.809dup (p.Ile271fs)
|
|
|
|
NM_000642.3(AGL):c.811A>G (p.Ile271Val)
|
rs2101112504
|
|
|
NM_000642.3(AGL):c.82+11A>C
|
|
|
|
NM_000642.3(AGL):c.82+14T>G
|
|
|
|
NM_000642.3(AGL):c.82+1547T>C
|
rs1553181605
|
|
|
NM_000642.3(AGL):c.82+16_82+20del
|
|
|
|
NM_000642.3(AGL):c.82+17T>C
|
|
|
|
NM_000642.3(AGL):c.82+1G>A
|
rs1354714214
|
|
|
NM_000642.3(AGL):c.82+1G>C
|
|
|
|
NM_000642.3(AGL):c.82+1G>T
|
|
|
|
NM_000642.3(AGL):c.82+20G>C
|
|
|
|
NM_000642.3(AGL):c.82+2T>G
|
|
|
|
NM_000642.3(AGL):c.82+6T>C
|
rs1648918421
|
|
|
NM_000642.3(AGL):c.82+7A>G
|
|
|
|
NM_000642.3(AGL):c.82+8G>T
|
|
|
|
NM_000642.3(AGL):c.820T>C (p.Leu274=)
|
|
|
|
NM_000642.3(AGL):c.825del (p.Ile275fs)
|
rs2101112572
|
|
|
NM_000642.3(AGL):c.83-11T>G
|
|
|
|
NM_000642.3(AGL):c.83-13G>A
|
|
|
|
NM_000642.3(AGL):c.83-15G>A
|
|
|
|
NM_000642.3(AGL):c.83-17A>G
|
|
|
|
NM_000642.3(AGL):c.83-19del
|
rs1553183146
|
|
|
NM_000642.3(AGL):c.83-24del
|
rs1553183144
|
|
|
NM_000642.3(AGL):c.83-29G>T
|
rs767476472
|
|
|
NM_000642.3(AGL):c.83-2A>G
|
|
|
|
NM_000642.3(AGL):c.83-7dup
|
|
|
|
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
|
|
|
|
NM_000642.3(AGL):c.837C>A (p.His279Gln)
|
rs1242665410
|
|
|
NM_000642.3(AGL):c.842_846+29del
|
|
|
|
NM_000642.3(AGL):c.846+11A>G
|
|
|
|
NM_000642.3(AGL):c.846+19_846+20dup
|
|
|
|
NM_000642.3(AGL):c.846+7A>G
|
rs2101112714
|
|
|
NM_000642.3(AGL):c.846+9G>C
|
rs2101112725
|
|
|
NM_000642.3(AGL):c.847-11A>G
|
|
|
|
NM_000642.3(AGL):c.847-12G>A
|
|
|
|
NM_000642.3(AGL):c.847-15_847-14del
|
|
|
|
NM_000642.3(AGL):c.847-17C>A
|
|
|
|
NM_000642.3(AGL):c.847-3C>A
|
rs1571243667
|
|
|
NM_000642.3(AGL):c.847-8T>C
|
rs767909893
|
|
|
NM_000642.3(AGL):c.847-9A>G
|
rs2101113215
|
|
|
NM_000642.3(AGL):c.853del (p.Arg285fs)
|
|
|
|
NM_000642.3(AGL):c.854del (p.Arg285fs)
|
rs1553184620
|
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
|
NM_000642.3(AGL):c.867G>A (p.Trp289Ter)
|
rs1650926061
|
|
|
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
|
rs1272589048
|
|
|
NM_000642.3(AGL):c.876T>A (p.Ile292=)
|
|
|
|
NM_000642.3(AGL):c.880C>G (p.Pro294Ala)
|
rs886044917
|
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
|
NM_000642.3(AGL):c.889A>G (p.Lys297Glu)
|
rs2101113398
|
|
|
NM_000642.3(AGL):c.889A>T (p.Lys297Ter)
|
|
|
|
NM_000642.3(AGL):c.891dup (p.Leu298fs)
|
rs775335476
|
|
|
NM_000642.3(AGL):c.893T>C (p.Leu298Pro)
|
|
|
|
NM_000642.3(AGL):c.894_895delinsTA (p.Trp299Arg)
|
|
|
|
NM_000642.3(AGL):c.894_895delinsTC (p.Trp299Arg)
|
rs2101113438
|
|
|
NM_000642.3(AGL):c.894_895delinsTG (p.Trp299Gly)
|
|
|
|
NM_000642.3(AGL):c.894del (p.Trp299fs)
|
|
|
|
NM_000642.3(AGL):c.895T>G (p.Trp299Gly)
|
rs773101055
|
|
|
NM_000642.3(AGL):c.899A>G (p.Glu300Gly)
|
|
|
|
NM_000642.3(AGL):c.89A>G (p.Glu30Gly)
|
|
|
|
NM_000642.3(AGL):c.909A>G (p.Gln303=)
|
rs2101113480
|
|
|
NM_000642.3(AGL):c.90_91delinsAT (p.Glu30_Leu31=)
|
rs2101084456
|
|
|
NM_000642.3(AGL):c.916G>A (p.Val306Ile)
|
rs764208593
|
|
|
NM_000642.3(AGL):c.918C>T (p.Val306=)
|
rs1571243841
|
|
|
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
|
rs774810929
|
|
|
NM_000642.3(AGL):c.91C>T (p.Leu31=)
|
|
|
|
NM_000642.3(AGL):c.921C>A (p.Asn307Lys)
|
rs1294297593
|
|
|
NM_000642.3(AGL):c.921del (p.Asn307fs)
|
rs1571243862
|
|
|
NM_000642.3(AGL):c.922A>G (p.Lys308Glu)
|
rs2101113540
|
|
|
NM_000642.3(AGL):c.923A>G (p.Lys308Arg)
|
|
|
|
NM_000642.3(AGL):c.929T>C (p.Val310Ala)
|
rs2101113568
|
|
|
NM_000642.3(AGL):c.939del (p.Phe313fs)
|
rs760589837
|
|
|
NM_000642.3(AGL):c.940A>G (p.Arg314Gly)
|
rs756443678
|
|
|
NM_000642.3(AGL):c.941G>A (p.Arg314Lys)
|
rs2101113628
|
|
|
NM_000642.3(AGL):c.942A>G (p.Arg314=)
|
rs2101113635
|
|
|
NM_000642.3(AGL):c.947_948del (p.Leu316fs)
|
rs1650934988
|
|
|
NM_000642.3(AGL):c.949C>T (p.Leu317Phe)
|
rs1557754822
|
|
|
NM_000642.3(AGL):c.954A>G (p.Thr318=)
|
rs1057523817
|
|
|
NM_000642.3(AGL):c.955C>T (p.Gln319Ter)
|
rs753488821
|
|
|
NM_000642.3(AGL):c.958+11C>G
|
|
|
|
NM_000642.3(AGL):c.958+11C>T
|
|
|
|
NM_000642.3(AGL):c.958+15C>T
|
|
|
|
NM_000642.3(AGL):c.958+18G>A
|
|
|
|
NM_000642.3(AGL):c.958+1G>A
|
rs1553184657
|
|
|
NM_000642.3(AGL):c.958+1G>C
|
|
|
|
NM_000642.3(AGL):c.958+1G>T
|
rs1553184657
|
|
|
NM_000642.3(AGL):c.959-11C>A
|
rs1553185284
|
|
|
NM_000642.3(AGL):c.959-16C>T
|
|
|
|
NM_000642.3(AGL):c.959-19C>T
|
|
|
|
NM_000642.3(AGL):c.959-4T>G
|
rs1399258321
|
|
|
NM_000642.3(AGL):c.959-72_965dup
|
rs1553185268
|
|
|
NM_000642.3(AGL):c.959-7_959-4del
|
|
|
|
NM_000642.3(AGL):c.959-8T>C
|
rs1651348613
|
|
|
NM_000642.3(AGL):c.959-8del
|
rs765359858
|
|
|
NM_000642.3(AGL):c.959-9T>G
|
|
|
|
NM_000642.3(AGL):c.965G>A (p.Arg322Lys)
|
|
|
|
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG
|
|
|
|
NM_000642.3(AGL):c.966dup (p.Arg323fs)
|
rs35856689
|
|
|
NM_000642.3(AGL):c.967C>A (p.Arg323=)
|
|
|
|
NM_000642.3(AGL):c.967C>T (p.Arg323Ter)
|
rs757987101
|
|
|
NM_000642.3(AGL):c.974C>G (p.Thr325Ser)
|
rs2101126080
|
|
|
NM_000642.3(AGL):c.975C>A (p.Thr325=)
|
|
|
|
NM_000642.3(AGL):c.975C>G (p.Thr325=)
|
|
|
|
NM_000642.3(AGL):c.978G>C (p.Lys326Asn)
|
|
|
|
NM_000642.3(AGL):c.980C>G (p.Ser327Cys)
|
|
|
|
NM_000642.3(AGL):c.991C>T (p.Gln331Ter)
|
rs1651353836
|
|
|
NM_000642.3(AGL):c.994C>T (p.His332Tyr)
|
|
|
|
NM_000642.3(AGL):c.995A>G (p.His332Arg)
|
rs2101126148
|
|
|
NM_000827.4(GRIA1):c.1129C>T (p.Arg377Ter)
|
rs1173036683
|
|
|
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)
|
rs387906778
|
|
|
NM_000891.3(KCNJ2):c.*1226C>G
|
rs749246339
|
|
|
NM_000891.3(KCNJ2):c.*1345G>A
|
rs141156477
|
|
|
NM_000891.3(KCNJ2):c.*1449C>T
|
rs2074403807
|
|
|
NM_000891.3(KCNJ2):c.*1631C>G
|
rs886053333
|
|
|
NM_000891.3(KCNJ2):c.*1646T>C
|
rs2074404964
|
|
|
NM_000891.3(KCNJ2):c.*1678dup
|
rs145779709
|
|
|
NM_000891.3(KCNJ2):c.*1702_*1704dup
|
rs1555604193
|
|
|
NM_000891.3(KCNJ2):c.*1702dup
|
rs886053334
|
|
|
NM_000891.3(KCNJ2):c.*1719_*1721dup
|
rs35753731
|
|
|
NM_000891.3(KCNJ2):c.*1720_*1721dup
|
rs35753731
|
|
|
NM_000891.3(KCNJ2):c.*1721dup
|
rs35753731
|
|
|
NM_000891.3(KCNJ2):c.*2270G>T
|
rs545863243
|
|
|
NM_000891.3(KCNJ2):c.*2328T>G
|
rs1233305858
|
|
|
NM_000891.3(KCNJ2):c.*2339G>C
|
rs1273347996
|
|
|
NM_000891.3(KCNJ2):c.*2343C>T
|
rs536283660
|
|
|
NM_000891.3(KCNJ2):c.*2370C>T
|
rs2074409675
|
|
|
NM_000891.3(KCNJ2):c.*2526A>G
|
rs886053337
|
|
|
NM_000891.3(KCNJ2):c.*2663T>C
|
rs886053338
|
|
|
NM_000891.3(KCNJ2):c.*2748T>C
|
rs9915768
|
|
|
NM_000891.3(KCNJ2):c.*2770_*2775del
|
rs35656864
|
|
|
NM_000891.3(KCNJ2):c.*2771_*2775del
|
rs35656864
|
|
|
NM_000891.3(KCNJ2):c.*2772_*2775del
|
rs35656864
|
|
|
NM_000891.3(KCNJ2):c.*2774_*2775del
|
rs35656864
|
|
|
NM_000891.3(KCNJ2):c.*2775dup
|
rs35656864
|
|
|
NM_000891.3(KCNJ2):c.*2776del
|
rs886053343
|
|
|
NM_000891.3(KCNJ2):c.*308C>T
|
rs2074395230
|
|
|
NM_000891.3(KCNJ2):c.*3173C>A
|
rs1467380962
|
|
|
NM_000891.3(KCNJ2):c.*324del
|
rs570173316
|
|
|
NM_000891.3(KCNJ2):c.*3391_*3392dup
|
rs552636156
|
|
|
NM_000891.3(KCNJ2):c.*3463del
|
rs3841509
|
|
|
NM_000891.3(KCNJ2):c.*596T>A
|
rs886053328
|
|
|
NM_000891.3(KCNJ2):c.*640GTT[4]
|
rs397705636
|
|
|
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT
|
rs376713253
|
|
|
NM_000891.3(KCNJ2):c.-217+1029_422del
|
|
|
|
NM_000891.3(KCNJ2):c.-258C>T
|
rs886053321
|
|
|
NM_000891.3(KCNJ2):c.1005C>T (p.His335=)
|
rs2144377784
|
|
|
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg)
|
rs772815957
|
|
|
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)
|
rs1476737505
|
|
|
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn)
|
rs1476737505
|
|
|
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys)
|
rs2144377812
|
|
|
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=)
|
rs2144377840
|
|
|
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=)
|
rs1473243559
|
|
|
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe)
|
rs1411366891
|
|
|
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe)
|
rs368406938
|
|
|
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
|
|
|
|
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val)
|
rs2074391294
|
|
|
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg)
|
rs1060500054
|
|
|
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn)
|
rs2144377919
|
|
|
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)
|
rs1567823248
|
|
|
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His)
|
rs2144377937
|
|
|
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser)
|
rs2144377959
|
|
|
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu)
|
rs780233256
|
|
|
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys)
|
rs2144377969
|
|
|
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
|
|
|
|
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter)
|
rs1598211614
|
|
|
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
|
|
|
|
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
|
|
|
|
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)
|
rs786205811
|
|
|
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn)
|
rs1567823283
|
|
|
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
|
|
|
|
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn)
|
rs1598211624
|
|
|
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)
|
rs1598211624
|
|
|
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
|
|
|
|
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro)
|
rs766143485
|
|
|
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
|
|
|
|
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=)
|
rs1279223538
|
|
|
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs)
|
rs2074392185
|
|
|
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu)
|
rs863224374
|
|
|
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=)
|
rs863224374
|
|
|
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe)
|
rs753757610
|
|
|
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
|
|
|
|
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys)
|
rs910587867
|
|
|
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile)
|
rs779960704
|
|
|
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
|
|
|
|
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
|
|
|
|
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
|
|
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
|
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=)
|
rs1257779655
|
|
|
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp)
|
rs1478741381
|
|
|
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
|
|
|
|
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu)
|
rs199473390
|
|
|
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)
|
rs2144376459
|
|
|
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
|
|
|
|
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys)
|
rs2144376473
|
|
|
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly)
|
rs2074385043
|
|
|
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys)
|
rs2074385043
|
|
|
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
|
|
|
|
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)
|
rs1042485
|
|
|
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
|
|
|
|
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)
|
rs2144376499
|
|
|
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg)
|
rs1598211051
|
|
|
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly)
|
rs2144376507
|
|
|
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe)
|
rs199473650
|
|
|
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=)
|
rs2144376552
|
|
|
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)
|
rs2144376313
|
|
|
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg)
|
rs2144376559
|
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
|
NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys)
|
rs2144376588
|
|
|
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
|
|
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
|
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
|
|
|
|
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)
|
rs375605948
|
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
|
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
|
|
|
|
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
|
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)
|
rs104894585
|
|
|
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
|
|
|
|
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)
|
rs786205812
|
|
|
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
|
|
|
|
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His)
|
rs199473372
|
|
|
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)
|
rs199473372
|
|
|
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly)
|
rs199473371
|
|
|
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
|
|
|
|
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys)
|
rs2074385891
|
|
|
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His)
|
rs2144376668
|
|
|
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
|
|
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
|
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
|
|
|
|
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val)
|
rs748958117
|
|
|
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
|
|
|
|
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr)
|
rs2144376712
|
|
|
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del)
|
rs797044841
|
|
|
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
|
|
|
|
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=)
|
rs1388829981
|
|
|
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del)
|
rs2144376746
|
|
|
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro)
|
rs2144376751
|
|
|
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del)
|
rs2074386225
|
|
|
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
|
|
|
|
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val)
|
rs1598211153
|
|
|
NM_000891.3(KCNJ2):c.306G>C (p.Val102=)
|
rs2144376790
|
|
|
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
|
|
|
|
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=)
|
rs2074386434
|
|
|
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=)
|
rs371331394
|
|
|
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=)
|
rs900684102
|
|
|
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
|
|
|
|
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro)
|
rs1567822991
|
|
|
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=)
|
rs2144376829
|
|
|
NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)
|
|
|
|
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)
|
rs2074386589
|
|
|
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val)
|
rs886053323
|
|
|
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys)
|
rs2144376873
|
|
|
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys)
|
rs2074386756
|
|
|
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)
|
rs1555603936
|
|
|
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr)
|
rs2074386902
|
|
|
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
|
|
|
|
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
|
rs864622292
|
|
|
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn)
|
rs772055408
|
|
|
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile)
|
rs1060500052
|
|
|
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
|
|
|
|
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
|
|
|
|
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
|
|
|
|
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)
|
rs2144376348
|
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
|
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)
|
rs199473377
|
|
|
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
|
|
|
|
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)
|
rs2074387117
|
|
|
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)
|
rs199473654
|
|
|
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp)
|
rs199473379
|
|
|
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
|
|
|
|
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
|
|
|
|
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
|
|
|
|
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly)
|
rs2144376982
|
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
|
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
|
|
|
|
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met)
|
rs2074387480
|
|
|
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
|
|
|
|
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)
|
rs1470684052
|
|
|
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu)
|
rs140147979
|
|
|
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup)
|
rs2144377032
|
|
|
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
|
|
|
|
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)
|
rs104894584
|
|
|
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser)
|
rs778699148
|
|
|
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu)
|
rs761209037
|
|
|
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser)
|
rs947488726
|
|
|
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
|
|
|
|
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
|
|
|
|
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)
|
rs104894581
|
|
|
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu)
|
rs104894581
|
|
|
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
|
|
|
|
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)
|
rs199473381
|
|
|
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr)
|
rs199473381
|
|
|
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile)
|
rs1598211282
|
|
|
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala)
|
rs199473382
|
|
|
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)
|
rs199473655
|
|
|
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His)
|
rs1555603955
|
|
|
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro)
|
rs1555603955
|
|
|
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
|
|
|
|
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
|
|
|
|
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
|
|
|
|
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
|
|
|
|
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met)
|
|
|
|
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)
|
rs767844416
|
|
|
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
|
|
|
|
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
|
|
|
|
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter)
|
rs2144377213
|
|
|
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
|
|
|
|
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)
|
rs199473383
|
|
|
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His)
|
rs104894583
|
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
|
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile)
|
rs2074388429
|
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
|
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)
|
rs199473384
|
|
|
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)
|
rs199473384
|
|
|
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn)
|
rs2074388522
|
|
|
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)
|
rs1555603968
|
|
|
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly)
|
rs1555603969
|
|
|
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)
|
rs1060500053
|
|
|
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln)
|
rs1234083049
|
|
|
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)
|
rs758144475
|
|
|
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=)
|
rs2074388781
|
|
|
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
|
|
|
|
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
|
|
|
|
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
|
|
|
|
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
|
|
|
|
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
|
|
|
|
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)
|
rs1555603974
|
|
|
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.721del (p.Glu241fs)
|
rs2074388917
|
|
|
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
|
|
|
|
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
|
|
|
|
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
|
|
|
|
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
|
|
|
|
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
|
|
|
|
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)
|
rs1057524125
|
|
|
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)
|
rs199473385
|
|
|
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val)
|
rs2074389312
|
|
|
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
|
|
|
|
NM_000891.3(KCNJ2):c.792G>A (p.Val264=)
|
rs2144377441
|
|
|
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)
|
rs1598211406
|
|
|
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=)
|
rs1381202025
|
|
|
NM_000891.3(KCNJ2):c.810C>T (p.Val270=)
|
rs1049263340
|
|
|
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
|
|
|
|
NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)
|
|
|
|
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=)
|
rs2074389639
|
|
|
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=)
|
rs2144377560
|
|
|
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln)
|
rs2144377579
|
|
|
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)
|
rs1027878057
|
|
|
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)
|
rs201162707
|
|
|
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
|
|
|
|
NM_000891.3(KCNJ2):c.896A>G (p.Glu299Gly)
|
rs786205817
|
|
|
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)
|
rs104894579
|
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
|
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
|
|
|
|
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)
|
rs786205818
|
|
|
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)
|
rs786205818
|
|
|
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met)
|
rs104894582
|
|
|
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro)
|
rs199473387
|
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
|
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser)
|
rs2144377666
|
|
|
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
|
|
|
|
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)
|
rs199473388
|
|
|
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg)
|
rs1598211487
|
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
|
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
|
|
|
|
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys)
|
rs797044842
|
|
|
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
|
|
|
|
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)
|
rs375727662
|
|
|
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
|
|
|
|
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)
|
rs2144377764
|
|
|
NM_000925.4(PDHB):c.*160A>G
|
rs2062883381
|
|
|
NM_000925.4(PDHB):c.*328A>G
|
rs2062880125
|
|
|
NM_000925.4(PDHB):c.*366_*367insAA
|
rs886058775
|
|
|
NM_000925.4(PDHB):c.*92C>A
|
rs4228
|
|
|
NM_000925.4(PDHB):c.1006A>G (p.Lys336Glu)
|
|
|
|
NM_000925.4(PDHB):c.1008G>A (p.Lys336=)
|
rs751210948
|
|
|
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)
|
rs28933391
|
|
|
NM_000925.4(PDHB):c.1035G>A (p.Gln345=)
|
rs987571203
|
|
|
NM_000925.4(PDHB):c.1035G>C (p.Gln345His)
|
|
|
|
NM_000925.4(PDHB):c.1050A>G (p.Ile350Met)
|
|
|
|
NM_000925.4(PDHB):c.1053T>C (p.Phe351=)
|
|
|
|
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
|
rs748366089
|
|
|
NM_000925.4(PDHB):c.1065A>G (p.Lys355=)
|
|
|
|
NM_000925.4(PDHB):c.1068A>T (p.Thr356=)
|
|
|
|
NM_000925.4(PDHB):c.1074T>C (p.Asn358=)
|
|
|
|
NM_000925.4(PDHB):c.114T>C (p.Ala38=)
|
|
|
|
NM_000925.4(PDHB):c.121C>G (p.Gln41Glu)
|
|
|
|
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
|
|
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
|
NM_000925.4(PDHB):c.135G>A (p.Glu45=)
|
|
|
|
NM_000925.4(PDHB):c.138G>A (p.Glu46=)
|
|
|
|
NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)
|
|
|
|
NM_000925.4(PDHB):c.141G>A (p.Leu47=)
|
|
|
|
NM_000925.4(PDHB):c.14C>A (p.Ser5Tyr)
|
rs1053613186
|
|
|
NM_000925.4(PDHB):c.156G>A (p.Lys52=)
|
rs2107941218
|
|
|
NM_000925.4(PDHB):c.15T>A (p.Ser5=)
|
rs775907917
|
|
|
NM_000925.4(PDHB):c.15T>G (p.Ser5=)
|
|
|
|
NM_000925.4(PDHB):c.177A>G (p.Glu59=)
|
|
|
|
NM_000925.4(PDHB):c.183C>T (p.Ala61=)
|
rs1263419219
|
|
|
NM_000925.4(PDHB):c.198A>C (p.Ala66=)
|
|
|
|
NM_000925.4(PDHB):c.1A>G (p.Met1Val)
|
|
|
|
NM_000925.4(PDHB):c.201C>T (p.Tyr67=)
|
|
|
|
NM_000925.4(PDHB):c.204+10A>C
|
|
|
|
NM_000925.4(PDHB):c.204+10A>G
|
|
|
|
NM_000925.4(PDHB):c.204+14A>G
|
|
|
|
NM_000925.4(PDHB):c.204+15T>G
|
|
|
|
NM_000925.4(PDHB):c.204+17A>G
|
|
|
|
NM_000925.4(PDHB):c.204+9A>G
|
|
|
|
NM_000925.4(PDHB):c.205-14A>T
|
|
|
|
NM_000925.4(PDHB):c.205-16C>A
|
|
|
|
NM_000925.4(PDHB):c.205-4G>T
|
rs2107941065
|
|
|
NM_000925.4(PDHB):c.205-6T>C
|
|
|
|
NM_000925.4(PDHB):c.205-8A>C
|
rs2107941071
|
|
|
NM_000925.4(PDHB):c.205-8A>G
|
|
|
|
NM_000925.4(PDHB):c.205-9T>C
|
rs1560188386
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
|
NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)
|
|
|
|
NM_000925.4(PDHB):c.237C>T (p.Asp79=)
|
|
|
|
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)
|
|
|
|
NM_000925.4(PDHB):c.243G>A (p.Arg81=)
|
|
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
|
NM_000925.4(PDHB):c.24G>A (p.Val8=)
|
rs776938446
|
|
|
NM_000925.4(PDHB):c.255T>C (p.Thr85=)
|
rs2107940972
|
|
|
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
|
rs747302644
|
|
|
NM_000925.4(PDHB):c.261A>T (p.Ile87=)
|
|
|
|
NM_000925.4(PDHB):c.267+16G>A
|
|
|
|
NM_000925.4(PDHB):c.267+19A>G
|
|
|
|
NM_000925.4(PDHB):c.267+8T>A
|
|
|
|
NM_000925.4(PDHB):c.268-16A>G
|
|
|
|
NM_000925.4(PDHB):c.268-7T>C
|
rs2107940828
|
|
|
NM_000925.4(PDHB):c.273C>T (p.Gly91=)
|
|
|
|
NM_000925.4(PDHB):c.27G>A (p.Arg9=)
|
|
|
|
NM_000925.4(PDHB):c.27G>C (p.Arg9=)
|
|
|
|
NM_000925.4(PDHB):c.27G>T (p.Arg9=)
|
rs1576959597
|
|
|
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
|
rs2062921405
|
|
|
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)
|
rs2062921303
|
|
|
NM_000925.4(PDHB):c.303+12T>A
|
|
|
|
NM_000925.4(PDHB):c.303+13C>G
|
|
|
|
NM_000925.4(PDHB):c.303+1G>C
|
|
|
|
NM_000925.4(PDHB):c.303+9T>C
|
|
|
|
NM_000925.4(PDHB):c.304-10G>T
|
rs1349270970
|
|
|
NM_000925.4(PDHB):c.304-14T>A
|
|
|
|
NM_000925.4(PDHB):c.304-16G>A
|
|
|
|
NM_000925.4(PDHB):c.304-17C>T
|
|
|
|
NM_000925.4(PDHB):c.304-1G>C
|
|
|
|
NM_000925.4(PDHB):c.304-5T>C
|
rs2107939861
|
|
|
NM_000925.4(PDHB):c.304-8T>C
|
rs2107939867
|
|
|
NM_000925.4(PDHB):c.304-8dup
|
rs781682337
|
|
|
NM_000925.4(PDHB):c.304-9A>C
|
|
|
|
NM_000925.4(PDHB):c.306T>C (p.Ala102=)
|
rs2107939849
|
|
|
NM_000925.4(PDHB):c.309G>A (p.Gly103=)
|
rs773743155
|
|
|
NM_000925.4(PDHB):c.309G>T (p.Gly103=)
|
|
|
|
NM_000925.4(PDHB):c.30A>G (p.Arg10=)
|
rs2107943891
|
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
|
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
|
NM_000925.4(PDHB):c.315G>A (p.Arg105=)
|
|
|
|
NM_000925.4(PDHB):c.336C>T (p.Thr112=)
|
rs2107939787
|
|
|
NM_000925.4(PDHB):c.339C>T (p.Phe113=)
|
|
|
|
NM_000925.4(PDHB):c.33C>T (p.Pro11=)
|
rs771813233
|
|
|
NM_000925.4(PDHB):c.342T>C (p.Asn114=)
|
|
|
|
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
|
|
|
|
NM_000925.4(PDHB):c.375C>T (p.Asn125=)
|
|
|
|
NM_000925.4(PDHB):c.381T>C (p.Ala127=)
|
rs2062913707
|
|
|
NM_000925.4(PDHB):c.390C>G (p.Thr130=)
|
|
|
|
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)
|
rs28935769
|
|
|
NM_000925.4(PDHB):c.396C>T (p.Tyr132=)
|
rs2107939689
|
|
|
NM_000925.4(PDHB):c.39G>A (p.Arg13=)
|
|
|
|
NM_000925.4(PDHB):c.39G>T (p.Arg13=)
|
|
|
|
NM_000925.4(PDHB):c.402T>G (p.Ser134=)
|
rs2107939677
|
|
|
NM_000925.4(PDHB):c.408C>T (p.Gly136=)
|
|
|
|
NM_000925.4(PDHB):c.411T>C (p.Leu137=)
|
|
|
|
NM_000925.4(PDHB):c.41_43-12del
|
|
|
|
NM_000925.4(PDHB):c.42+11G>A
|
|
|
|
NM_000925.4(PDHB):c.42+14C>G
|
|
|
|
NM_000925.4(PDHB):c.42+14C>T
|
|
|
|
NM_000925.4(PDHB):c.42+18G>A
|
|
|
|
NM_000925.4(PDHB):c.42+19C>T
|
|
|
|
NM_000925.4(PDHB):c.42+20C>G
|
|
|
|
NM_000925.4(PDHB):c.42+7A>G
|
rs2062944921
|
|
|
NM_000925.4(PDHB):c.42+9C>G
|
rs755756637
|
|
|
NM_000925.4(PDHB):c.42+9C>T
|
rs755756637
|
|
|
NM_000925.4(PDHB):c.43-11C>T
|
|
|
|
NM_000925.4(PDHB):c.43-7C>T
|
|
|
|
NM_000925.4(PDHB):c.438G>C (p.Gly146=)
|
rs1126551
|
|
|
NM_000925.4(PDHB):c.438G>T (p.Gly146=)
|
|
|
|
NM_000925.4(PDHB):c.441C>T (p.Pro147=)
|
|
|
|
NM_000925.4(PDHB):c.443A>G (p.Asn148Ser)
|
|
|
|
NM_000925.4(PDHB):c.444T>C (p.Asn148=)
|
rs2107939589
|
|
|
NM_000925.4(PDHB):c.449C>A (p.Ala150Asp)
|
|
|
|
NM_000925.4(PDHB):c.450C>T (p.Ala150=)
|
rs2107939582
|
|
|
NM_000925.4(PDHB):c.465T>C (p.Ala155=)
|
|
|
|
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
|
|
|
|
NM_000925.4(PDHB):c.474C>T (p.His158=)
|
|
|
|
NM_000925.4(PDHB):c.478_479del (p.Gln160fs)
|
|
|
|
NM_000925.4(PDHB):c.480G>A (p.Gln160=)
|
|
|
|
NM_000925.4(PDHB):c.483C>T (p.Cys161=)
|
|
|
|
NM_000925.4(PDHB):c.489T>C (p.Ala163=)
|
|
|
|
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
|
rs2062912705
|
|
|
NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)
|
|
|
|
NM_000925.4(PDHB):c.4G>A (p.Ala2Thr)
|
|
|
|
NM_000925.4(PDHB):c.519G>A (p.Lys173=)
|
|
|
|
NM_000925.4(PDHB):c.520G>A (p.Val174Met)
|
|
|
|
NM_000925.4(PDHB):c.531C>T (p.Pro177=)
|
|
|
|
NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)
|
|
|
|
NM_000925.4(PDHB):c.549T>C (p.Ala183=)
|
rs2107939461
|
|
|
NM_000925.4(PDHB):c.570C>T (p.Ala190=)
|
|
|
|
NM_000925.4(PDHB):c.573T>C (p.Ile191=)
|
rs2107939438
|
|
|
NM_000925.4(PDHB):c.578del (p.Asp193fs)
|
|
|
|
NM_000925.4(PDHB):c.582C>T (p.Asn194=)
|
rs994015584
|
|
|
NM_000925.4(PDHB):c.589+11G>A
|
|
|
|
NM_000925.4(PDHB):c.589+14C>T
|
|
|
|
NM_000925.4(PDHB):c.589+7A>G
|
rs762964497
|
|
|
NM_000925.4(PDHB):c.589+8C>G
|
rs2107939394
|
|
|
NM_000925.4(PDHB):c.589+9A>C
|
|
|
|
NM_000925.4(PDHB):c.589+9A>G
|
rs2107939389
|
|
|
NM_000925.4(PDHB):c.590-11A>G
|
|
|
|
NM_000925.4(PDHB):c.590-11_590-10del
|
rs1179603141
|
|
|
NM_000925.4(PDHB):c.590-12T>A
|
|
|
|
NM_000925.4(PDHB):c.590-9G>A
|
|
|
|
NM_000925.4(PDHB):c.597G>A (p.Val199=)
|
|
|
|
NM_000925.4(PDHB):c.5C>T (p.Ala2Val)
|
|
|
|
NM_000925.4(PDHB):c.600A>G (p.Leu200=)
|
|
|
|
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
|
|
|
|
NM_000925.4(PDHB):c.615G>A (p.Met205Ile)
|
|
|
|
NM_000925.4(PDHB):c.621G>A (p.Gly207=)
|
rs2062908611
|
|
|
NM_000925.4(PDHB):c.627T>G (p.Pro209=)
|
|
|
|
NM_000925.4(PDHB):c.639_655del (p.Pro214fs)
|
|
|
|
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)
|
rs886058778
|
|
|
NM_000925.4(PDHB):c.660T>G (p.Asp220Glu)
|
|
|
|
NM_000925.4(PDHB):c.675T>A (p.Ile225=)
|
|
|
|
NM_000925.4(PDHB):c.696G>A (p.Arg232=)
|
rs2107938811
|
|
|
NM_000925.4(PDHB):c.6G>A (p.Ala2=)
|
rs1203148983
|
|
|
NM_000925.4(PDHB):c.6G>C (p.Ala2=)
|
|
|
|
NM_000925.4(PDHB):c.700+17A>T
|
rs754519817
|
|
|
NM_000925.4(PDHB):c.700+18T>C
|
|
|
|
NM_000925.4(PDHB):c.700+9del
|
|
|
|
NM_000925.4(PDHB):c.701-10C>G
|
|
|
|
NM_000925.4(PDHB):c.701-8G>A
|
rs370346593
|
|
|
NM_000925.4(PDHB):c.708T>C (p.His236=)
|
rs2107938396
|
|
|
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)
|
rs779577082
|
|
|
NM_000925.4(PDHB):c.714dup (p.Val239fs)
|
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
|
NM_000925.4(PDHB):c.717G>C (p.Val239=)
|
rs1576956301
|
|
|
NM_000925.4(PDHB):c.721T>C (p.Ser241Pro)
|
|
|
|
NM_000925.4(PDHB):c.730A>C (p.Arg244=)
|
|
|
|
NM_000925.4(PDHB):c.741C>T (p.Gly247=)
|
|
|
|
NM_000925.4(PDHB):c.768A>G (p.Leu256=)
|
rs2062903975
|
|
|
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
|
rs2062903901
|
|
|
NM_000925.4(PDHB):c.776A>G (p.Glu259Gly)
|
|
|
|
NM_000925.4(PDHB):c.781G>A (p.Val261Ile)
|
|
|
|
NM_000925.4(PDHB):c.78C>A (p.Thr26=)
|
|
|
|
NM_000925.4(PDHB):c.792+13T>C
|
|
|
|
NM_000925.4(PDHB):c.792+18T>C
|
|
|
|
NM_000925.4(PDHB):c.792+19_792+24del
|
|
|
|
NM_000925.4(PDHB):c.792+3del
|
|
|
|
NM_000925.4(PDHB):c.792+9A>G
|
rs762944918
|
|
|
NM_000925.4(PDHB):c.793-10_793-7dup
|
rs2062893900
|
|
|
NM_000925.4(PDHB):c.793-13A>G
|
|
|
|
NM_000925.4(PDHB):c.793-15A>G
|
|
|
|
NM_000925.4(PDHB):c.793-16T>C
|
|
|
|
NM_000925.4(PDHB):c.793-16T>G
|
|
|
|
NM_000925.4(PDHB):c.793-19_793-14del
|
rs759146810
|
|
|
NM_000925.4(PDHB):c.793-19_793-16del
|
|
|
|
NM_000925.4(PDHB):c.803del (p.Met268fs)
|
|
|
|
NM_000925.4(PDHB):c.806G>A (p.Arg269His)
|
|
|
|
NM_000925.4(PDHB):c.810C>T (p.Thr270=)
|
rs1444305170
|
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
|
NM_000925.4(PDHB):c.825C>T (p.Asp275=)
|
|
|
|
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
|
rs1392622459
|
|
|
NM_000925.4(PDHB):c.840A>G (p.Glu280=)
|
|
|
|
NM_000925.4(PDHB):c.847G>A (p.Val283Ile)
|
rs2062893319
|
|
|
NM_000925.4(PDHB):c.861T>C (p.Asn287=)
|
rs1237030552
|
|
|
NM_000925.4(PDHB):c.885C>G (p.Gly295=)
|
rs763844372
|
|
|
NM_000925.4(PDHB):c.906A>G (p.Gly302=)
|
|
|
|
NM_000925.4(PDHB):c.90G>A (p.Ala30=)
|
rs2107943592
|
|
|
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)
|
rs145876456
|
|
|
NM_000925.4(PDHB):c.927C>T (p.Ile309=)
|
|
|
|
NM_000925.4(PDHB):c.934+11G>T
|
|
|
|
NM_000925.4(PDHB):c.934+1G>A
|
|
|
|
NM_000925.4(PDHB):c.935-14CTTC[3]
|
|
|
|
NM_000925.4(PDHB):c.935-17A>G
|
|
|
|
NM_000925.4(PDHB):c.935-17del
|
|
|
|
NM_000925.4(PDHB):c.935-4C>T
|
|
|
|
NM_000925.4(PDHB):c.935-5C>A
|
rs1418680590
|
|
|
NM_000925.4(PDHB):c.935-5C>G
|
rs1418680590
|
|
|
NM_000925.4(PDHB):c.935-5C>T
|
rs1418680590
|
|
|
NM_000925.4(PDHB):c.935-7C>T
|
rs2107936427
|
|
|
NM_000925.4(PDHB):c.935-9T>C
|
rs935875454
|
|
|
NM_000925.4(PDHB):c.939T>C (p.Pro313=)
|
rs1576955073
|
|
|
NM_000925.4(PDHB):c.93G>A (p.Leu31=)
|
|
|
|
NM_000925.4(PDHB):c.93G>T (p.Leu31=)
|
rs886058780
|
|
|
NM_000925.4(PDHB):c.951C>T (p.Phe317=)
|
|
|
|
NM_000925.4(PDHB):c.952C>T (p.Leu318=)
|
|
|
|
NM_000925.4(PDHB):c.954G>C (p.Leu318=)
|
rs1576955034
|
|
|
NM_000925.4(PDHB):c.954G>T (p.Leu318=)
|
rs1576955034
|
|
|
NM_000925.4(PDHB):c.96+10G>C
|
rs755528489
|
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
|
NM_000925.4(PDHB):c.96+12G>C
|
rs773433623
|
|
|
NM_000925.4(PDHB):c.96+13G>A
|
|
|
|
NM_000925.4(PDHB):c.96+13G>T
|
|
|
|
NM_000925.4(PDHB):c.96+14G>T
|
|
|
|
NM_000925.4(PDHB):c.96+17C>T
|
|
|
|
NM_000925.4(PDHB):c.96+19C>G
|
|
|
|
NM_000925.4(PDHB):c.96+19C>T
|
|
|
|
NM_000925.4(PDHB):c.96+2T>C
|
rs2107943571
|
|
|
NM_000925.4(PDHB):c.96+6A>T
|
|
|
|
NM_000925.4(PDHB):c.96+8G>T
|
rs2062943444
|
|
|
NM_000925.4(PDHB):c.96+9C>G
|
|
|
|
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
|
rs1576955015
|
|
|
NM_000925.4(PDHB):c.97-10C>T
|
rs2107941338
|
|
|
NM_000925.4(PDHB):c.97-13A>G
|
|
|
|
NM_000925.4(PDHB):c.97-4A>T
|
rs2107941318
|
|
|
NM_000925.4(PDHB):c.97-7G>C
|
rs2107941329
|
|
|
NM_000925.4(PDHB):c.97-8T>C
|
|
|
|
NM_000925.4(PDHB):c.975C>T (p.Val325=)
|
|
|
|
NM_000925.4(PDHB):c.984T>C (p.Ala328=)
|
|
|
|
NM_000925.4(PDHB):c.990C>T (p.Val330=)
|
rs267599918
|
|
|
NM_000925.4(PDHB):c.99G>A (p.Val33=)
|
rs2107941297
|
|
|
NM_000925.4(PDHB):c.99G>T (p.Val33=)
|
|
|
|
NM_000925.4(PDHB):c.9G>T (p.Ala3=)
|
|
|
|
NM_001001671.4(MAP3K15):c.3781-7G>C
|
rs2147195977
|
|
|
NM_001008216.2(GALE):c.*12T>G
|
rs1638931716
|
|
|
NM_001008216.2(GALE):c.*158G>A
|
rs1343467826
|
|
|
NM_001008216.2(GALE):c.*326_*328dup
|
rs557214506
|
|
|
NM_001008216.2(GALE):c.*327A>T
|
rs535702110
|
|
|
NM_001008216.2(GALE):c.-77+205C>G
|
rs910285433
|
|
|
NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)
|
|
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
|
NM_001008216.2(GALE):c.1014G>A (p.Lys338=)
|
|
|
|
NM_001008216.2(GALE):c.102C>T (p.Asn34=)
|
|
|
|
NM_001008216.2(GALE):c.1038G>A (p.Thr346=)
|
|
|
|
NM_001008216.2(GALE):c.110A>G (p.Asn37Ser)
|
|
|
|
NM_001008216.2(GALE):c.114C>T (p.Ala38=)
|
|
|
|
NM_001008216.2(GALE):c.121+10G>A
|
|
|
|
NM_001008216.2(GALE):c.121+11C>T
|
|
|
|
NM_001008216.2(GALE):c.121+16G>T
|
|
|
|
NM_001008216.2(GALE):c.121+18G>T
|
|
|
|
NM_001008216.2(GALE):c.121+7G>A
|
|
|
|
NM_001008216.2(GALE):c.122-11_122-1del
|
|
|
|
NM_001008216.2(GALE):c.122-13T>C
|
|
|
|
NM_001008216.2(GALE):c.122-14A>C
|
|
|
|
NM_001008216.2(GALE):c.122-14A>G
|
|
|
|
NM_001008216.2(GALE):c.122-18C>T
|
|
|
|
NM_001008216.2(GALE):c.122-19C>T
|
|
|
|
NM_001008216.2(GALE):c.122-20G>A
|
|
|
|
NM_001008216.2(GALE):c.122-20G>T
|
|
|
|
NM_001008216.2(GALE):c.122-4C>T
|
|
|
|
NM_001008216.2(GALE):c.122-7del
|
|
|
|
NM_001008216.2(GALE):c.132C>T (p.Ser44=)
|
|
|
|
NM_001008216.2(GALE):c.138T>C (p.Pro46=)
|
|
|
|
NM_001008216.2(GALE):c.138T>G (p.Pro46=)
|
|
|
|
NM_001008216.2(GALE):c.13G>T (p.Val5Leu)
|
rs1570635677
|
|
|
NM_001008216.2(GALE):c.144C>T (p.Ser48=)
|
|
|
|
NM_001008216.2(GALE):c.147G>A (p.Leu49=)
|
|
|
|
NM_001008216.2(GALE):c.147G>C (p.Leu49=)
|
|
|
|
NM_001008216.2(GALE):c.150G>A (p.Arg50=)
|
|
|
|
NM_001008216.2(GALE):c.151_154del (p.Arg51fs)
|
|
|
|
NM_001008216.2(GALE):c.152_155del (p.Arg51fs)
|
|
|
|
NM_001008216.2(GALE):c.153G>A (p.Arg51=)
|
|
|
|
NM_001008216.2(GALE):c.156C>T (p.Val52=)
|
|
|
|
NM_001008216.2(GALE):c.172C>T (p.Arg58Cys)
|
|
|
|
NM_001008216.2(GALE):c.180G>T (p.Val60=)
|
|
|
|
NM_001008216.2(GALE):c.189G>A (p.Glu63=)
|
|
|
|
NM_001008216.2(GALE):c.196dup (p.Asp66fs)
|
|
|
|
NM_001008216.2(GALE):c.1A>G (p.Met1Val)
|
|
|
|
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)
|
rs1261697960
|
|
|
NM_001008216.2(GALE):c.207C>T (p.Asp69=)
|
|
|
|
NM_001008216.2(GALE):c.217C>T (p.Leu73=)
|
|
|
|
NM_001008216.2(GALE):c.224G>A (p.Arg75His)
|
|
|
|
NM_001008216.2(GALE):c.231C>T (p.Phe77=)
|
|
|
|
NM_001008216.2(GALE):c.237+19C>A
|
rs774395385
|
|
|
NM_001008216.2(GALE):c.237+19C>T
|
|
|
|
NM_001008216.2(GALE):c.238-16C>T
|
|
|
|
NM_001008216.2(GALE):c.238-17C>T
|
|
|
|
NM_001008216.2(GALE):c.238-20T>C
|
|
|
|
NM_001008216.2(GALE):c.238-6C>G
|
|
|
|
NM_001008216.2(GALE):c.252G>A (p.Ala84=)
|
|
|
|
NM_001008216.2(GALE):c.266C>T (p.Ala89Val)
|
|
|
|
NM_001008216.2(GALE):c.267G>A (p.Ala89=)
|
|
|
|
NM_001008216.2(GALE):c.269G>A (p.Gly90Glu)
|
rs28940882
|
|
|
NM_001008216.2(GALE):c.270G>A (p.Gly90=)
|
|
|
|
NM_001008216.2(GALE):c.273C>G (p.Leu91=)
|
|
|
|
NM_001008216.2(GALE):c.279C>T (p.Ala93=)
|
|
|
|
NM_001008216.2(GALE):c.285C>T (p.Gly95=)
|
|
|
|
NM_001008216.2(GALE):c.286G>A (p.Glu96Lys)
|
|
|
|
NM_001008216.2(GALE):c.288G>A (p.Glu96=)
|
|
|
|
NM_001008216.2(GALE):c.290C>T (p.Ser97Leu)
|
|
|
|
NM_001008216.2(GALE):c.2T>C (p.Met1Thr)
|
|
|
|
NM_001008216.2(GALE):c.300G>A (p.Lys100=)
|
|
|
|
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)
|
rs28940883
|
|
|
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)
|
rs754850112
|
|
|
NM_001008216.2(GALE):c.324C>T (p.Asn108=)
|
|
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
|
NM_001008216.2(GALE):c.345T>A (p.Leu115=)
|
|
|
|
NM_001008216.2(GALE):c.351+16C>A
|
|
|
|
NM_001008216.2(GALE):c.351+17A>G
|
|
|
|
NM_001008216.2(GALE):c.351+17_351+18del
|
|
|
|
NM_001008216.2(GALE):c.351+1G>T
|
rs1388106856
|
|
|
NM_001008216.2(GALE):c.351+2T>C
|
|
|
|
NM_001008216.2(GALE):c.352-16A>G
|
|
|
|
NM_001008216.2(GALE):c.352-19G>A
|
|
|
|
NM_001008216.2(GALE):c.352-4C>T
|
|
|
|
NM_001008216.2(GALE):c.352-9C>T
|
|
|
|
NM_001008216.2(GALE):c.358A>G (p.Lys120Glu)
|
|
|
|
NM_001008216.2(GALE):c.366C>T (p.His122=)
|
|
|
|
NM_001008216.2(GALE):c.369G>C (p.Gly123=)
|
|
|
|
NM_001008216.2(GALE):c.384G>A (p.Val128=)
|
|
|
|
NM_001008216.2(GALE):c.399C>G (p.Ala133=)
|
|
|
|
NM_001008216.2(GALE):c.3G>A (p.Met1Ile)
|
|
|
|
NM_001008216.2(GALE):c.402T>C (p.Thr134=)
|
|
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
|
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg)
|
rs372715385
|
|
|
NM_001008216.2(GALE):c.426G>A (p.Leu142=)
|
|
|
|
NM_001008216.2(GALE):c.435T>C (p.Asp145=)
|
|
|
|
NM_001008216.2(GALE):c.442C>A (p.His148Asn)
|
rs1006253988
|
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
|
NM_001008216.2(GALE):c.450G>T (p.Thr150=)
|
|
|
|
NM_001008216.2(GALE):c.456T>C (p.Gly152=)
|
|
|
|
NM_001008216.2(GALE):c.459T>C (p.Cys153=)
|
|
|
|
NM_001008216.2(GALE):c.471C>T (p.Tyr157=)
|
|
|
|
NM_001008216.2(GALE):c.472G>A (p.Gly158Ser)
|
|
|
|
NM_001008216.2(GALE):c.477G>A (p.Lys159=)
|
|
|
|
NM_001008216.2(GALE):c.486C>T (p.Phe162=)
|
|
|
|
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys)
|
rs1570632874
|
|
|
NM_001008216.2(GALE):c.493G>C (p.Glu165Gln)
|
|
|
|
NM_001008216.2(GALE):c.504C>A (p.Ile168=)
|
|
|
|
NM_001008216.2(GALE):c.505C>A (p.Arg169=)
|
|
|
|
NM_001008216.2(GALE):c.510C>T (p.Asp170=)
|
|
|
|
NM_001008216.2(GALE):c.517del (p.Gln173fs)
|
|
|
|
NM_001008216.2(GALE):c.51C>T (p.His17=)
|
|
|
|
NM_001008216.2(GALE):c.528+18A>G
|
|
|
|
NM_001008216.2(GALE):c.528+19G>A
|
|
|
|
NM_001008216.2(GALE):c.528+1G>A
|
|
|
|
NM_001008216.2(GALE):c.528+8C>G
|
|
|
|
NM_001008216.2(GALE):c.528+8C>T
|
|
|
|
NM_001008216.2(GALE):c.529-10C>T
|
|
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
|
NM_001008216.2(GALE):c.529-17T>C
|
|
|
|
NM_001008216.2(GALE):c.529-18C>G
|
|
|
|
NM_001008216.2(GALE):c.529-22_535dup
|
|
|
|
NM_001008216.2(GALE):c.529-5C>T
|
|
|
|
NM_001008216.2(GALE):c.529-6C>T
|
|
|
|
NM_001008216.2(GALE):c.529-8T>A
|
|
|
|
NM_001008216.2(GALE):c.531T>C (p.Thr177=)
|
|
|
|
NM_001008216.2(GALE):c.534G>A (p.Trp178Ter)
|
|
|
|
NM_001008216.2(GALE):c.537C>T (p.Asn179=)
|
|
|
|
NM_001008216.2(GALE):c.548T>C (p.Leu183Pro)
|
rs121908045
|
|
|
NM_001008216.2(GALE):c.54G>A (p.Thr18=)
|
|
|
|
NM_001008216.2(GALE):c.54G>C (p.Thr18=)
|
|
|
|
NM_001008216.2(GALE):c.54G>T (p.Thr18=)
|
|
|
|
NM_001008216.2(GALE):c.552C>G (p.Arg184=)
|
|
|
|
NM_001008216.2(GALE):c.560A>G (p.Asn187Ser)
|
|
|
|
NM_001008216.2(GALE):c.563_564del (p.Pro188fs)
|
|
|
|
NM_001008216.2(GALE):c.573C>T (p.Ala191=)
|
|
|
|
NM_001008216.2(GALE):c.579C>A (p.Ala193=)
|
|
|
|
NM_001008216.2(GALE):c.588C>T (p.Cys196=)
|
|
|
|
NM_001008216.2(GALE):c.609C>T (p.Gly203=)
|
|
|
|
NM_001008216.2(GALE):c.621C>T (p.Asn207=)
|
|
|
|
NM_001008216.2(GALE):c.634_635del (p.Val212fs)
|
|
|
|
NM_001008216.2(GALE):c.636C>A (p.Val212=)
|
|
|
|
NM_001008216.2(GALE):c.63G>A (p.Glu21=)
|
|
|
|
NM_001008216.2(GALE):c.642+11A>G
|
|
|
|
NM_001008216.2(GALE):c.642+16A>G
|
|
|
|
NM_001008216.2(GALE):c.642+18G>A
|
|
|
|
NM_001008216.2(GALE):c.642+1G>A
|
|
|
|
NM_001008216.2(GALE):c.642+7C>T
|
|
|
|
NM_001008216.2(GALE):c.643-10C>T
|
|
|
|
NM_001008216.2(GALE):c.643-15G>C
|
|
|
|
NM_001008216.2(GALE):c.643-17C>T
|
|
|
|
NM_001008216.2(GALE):c.643-19A>G
|
|
|
|
NM_001008216.2(GALE):c.643-2A>C
|
|
|
|
NM_001008216.2(GALE):c.643-5T>A
|
|
|
|
NM_001008216.2(GALE):c.643-6C>T
|
|
|
|
NM_001008216.2(GALE):c.651C>T (p.Ile217=)
|
|
|
|
NM_001008216.2(GALE):c.655C>T (p.Arg219Ter)
|
|
|
|
NM_001008216.2(GALE):c.660G>C (p.Arg220=)
|
|
|
|
NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys)
|
|
|
|
NM_001008216.2(GALE):c.689_690del (p.Asp229_Tyr230insTer)
|
|
|
|
NM_001008216.2(GALE):c.695_696del (p.Thr232fs)
|
|
|
|
NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu)
|
|
|
|
NM_001008216.2(GALE):c.69G>A (p.Leu23=)
|
|
|
|
NM_001008216.2(GALE):c.700del (p.Asp234fs)
|
|
|
|
NM_001008216.2(GALE):c.709+14C>T
|
|
|
|
NM_001008216.2(GALE):c.709+15del
|
rs1196635557
|
|
|
NM_001008216.2(GALE):c.709+16G>C
|
|
|
|
NM_001008216.2(GALE):c.709+2_709+17del
|
|
|
|
NM_001008216.2(GALE):c.709+7C>G
|
|
|
|
NM_001008216.2(GALE):c.710-12C>T
|
|
|
|
NM_001008216.2(GALE):c.710-16A>G
|
|
|
|
NM_001008216.2(GALE):c.710-18A>G
|
|
|
|
NM_001008216.2(GALE):c.710-19C>T
|
|
|
|
NM_001008216.2(GALE):c.713T>C (p.Val238Ala)
|
rs1348284514
|
|
|
NM_001008216.2(GALE):c.720T>C (p.Asp240=)
|
|
|
|
NM_001008216.2(GALE):c.732C>G (p.Val244=)
|
|
|
|
NM_001008216.2(GALE):c.732C>T (p.Val244=)
|
|
|
|
NM_001008216.2(GALE):c.735G>C (p.Val245=)
|
|
|
|
NM_001008216.2(GALE):c.744C>T (p.Ala248=)
|
|
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
|
NM_001008216.2(GALE):c.773dup (p.Lys259fs)
|
|
|
|
NM_001008216.2(GALE):c.795+12A>G
|
|
|
|
NM_001008216.2(GALE):c.795+13G>A
|
|
|
|
NM_001008216.2(GALE):c.795+13G>C
|
|
|
|
NM_001008216.2(GALE):c.795+14_795+15del
|
|
|
|
NM_001008216.2(GALE):c.795+16A>G
|
|
|
|
NM_001008216.2(GALE):c.795+1G>A
|
|
|
|
NM_001008216.2(GALE):c.795+20G>T
|
|
|
|
NM_001008216.2(GALE):c.795+7A>C
|
rs755752373
|
|
|
NM_001008216.2(GALE):c.795+9A>C
|
|
|
|
NM_001008216.2(GALE):c.805C>T (p.Leu269=)
|
|
|
|
NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)
|
|
|
|
NM_001008216.2(GALE):c.813G>A (p.Thr271=)
|
|
|
|
NM_001008216.2(GALE):c.815del (p.Gly272fs)
|
|
|
|
NM_001008216.2(GALE):c.822C>T (p.Gly274=)
|
|
|
|
NM_001008216.2(GALE):c.843C>G (p.Val281=)
|
|
|
|
NM_001008216.2(GALE):c.843C>T (p.Val281=)
|
|
|
|
NM_001008216.2(GALE):c.846G>A (p.Gln282=)
|
|
|
|
NM_001008216.2(GALE):c.84G>A (p.Leu28=)
|
|
|
|
NM_001008216.2(GALE):c.855G>A (p.Glu285=)
|
|
|
|
NM_001008216.2(GALE):c.873+12C>G
|
|
|
|
NM_001008216.2(GALE):c.873+14_873+15insCA
|
|
|
|
NM_001008216.2(GALE):c.873+18A>G
|
|
|
|
NM_001008216.2(GALE):c.873+2T>C
|
|
|
|
NM_001008216.2(GALE):c.873+6C>T
|
rs1553130228
|
|
|
NM_001008216.2(GALE):c.873+7C>T
|
rs746500876
|
|
|
NM_001008216.2(GALE):c.873G>A (p.Lys291=)
|
rs1570630092
|
|
|
NM_001008216.2(GALE):c.874-14C>T
|
|
|
|
NM_001008216.2(GALE):c.874-15C>T
|
|
|
|
NM_001008216.2(GALE):c.874-18C>T
|
|
|
|
NM_001008216.2(GALE):c.874-19A>G
|
|
|
|
NM_001008216.2(GALE):c.874-9G>C
|
|
|
|
NM_001008216.2(GALE):c.879G>C (p.Pro293=)
|
rs142332521
|
|
|
NM_001008216.2(GALE):c.87T>C (p.Pro29=)
|
|
|
|
NM_001008216.2(GALE):c.894A>G (p.Ala298=)
|
|
|
|
NM_001008216.2(GALE):c.904G>T (p.Gly302Cys)
|
rs146052241
|
|
|
NM_001008216.2(GALE):c.90G>A (p.Val30=)
|
|
|
|
NM_001008216.2(GALE):c.933del (p.Ser312fs)
|
|
|
|
NM_001008216.2(GALE):c.936C>T (p.Ser312=)
|
rs1570629036
|
|
|
NM_001008216.2(GALE):c.937C>A (p.Leu313Met)
|
rs3180383
|
|
|
NM_001008216.2(GALE):c.951G>A (p.Glu317=)
|
|
|
|
NM_001008216.2(GALE):c.957G>A (p.Gly319=)
|
|
|
|
NM_001008216.2(GALE):c.96C>T (p.Ile32=)
|
|
|
|
NM_001008216.2(GALE):c.978G>A (p.Leu326=)
|
|
|
|
NM_001008216.2(GALE):c.988+11G>T
|
|
|
|
NM_001008216.2(GALE):c.988+12C>T
|
|
|
|
NM_001008216.2(GALE):c.988+14T>C
|
|
|
|
NM_001008216.2(GALE):c.988+17C>T
|
|
|
|
NM_001008216.2(GALE):c.988+19C>T
|
|
|
|
NM_001008216.2(GALE):c.988+5G>A
|
rs1035870470
|
|
|
NM_001008216.2(GALE):c.989-10C>T
|
|
|
|
NM_001008216.2(GALE):c.989-11C>T
|
|
|
|
NM_001008216.2(GALE):c.989-12G>A
|
|
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
|
NM_001008216.2(GALE):c.989-16C>T
|
|
|
|
NM_001008216.2(GALE):c.989-18C>T
|
|
|
|
NM_001008216.2(GALE):c.989-19A>T
|
|
|
|
NM_001008216.2(GALE):c.989-20C>T
|
|
|
|
NM_001008216.2(GALE):c.989-7G>A
|
|
|
|
NM_001008216.2(GALE):c.989-8T>C
|
|
|
|
NM_001008216.2(GALE):c.989-8del
|
|
|
|
NM_001008216.2(GALE):c.989-9G>A
|
|
|
|
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)
|
rs768527360
|
|
|
NM_001008216.2(GALE):c.993G>A (p.Glu331=)
|
|
|
|
NM_001008216.2(GALE):c.996T>C (p.Asp332=)
|
|
|
|
NM_001008216.2(GALE):c.999C>G (p.Leu333=)
|
|
|
|
NM_001008216.2(GALE):c.9G>A (p.Glu3=)
|
|
|
|
NM_001014436.3(DBNL):c.*2022G>A
|
|
|
|
NM_001014436.3(DBNL):c.*2031A>G
|
|
|
|
NM_001014436.3(DBNL):c.*3899C>T
|
|
|
|
NM_001014436.3(DBNL):c.*3913C>A
|
|
|
|
NM_001014436.3(DBNL):c.*4100G>A
|
|
|
|
NM_001014436.3(DBNL):c.*4101G>A
|
rs2128796345
|
|
|
NM_001014436.3(DBNL):c.*4108A>C
|
|
|
|
NM_001014436.3(DBNL):c.*4191G>A
|
|
|
|
NM_001014436.3(DBNL):c.*4194G>A
|
rs2128796381
|
|
|
NM_001039770.3(TMPPE):c.-381G>A
|
|
|
|
NM_001039770.3(TMPPE):c.-382G>A
|
|
|
|
NM_001039770.3(TMPPE):c.-385C>T
|
|
|
|
NM_001039770.3(TMPPE):c.-392G>A
|
rs2125591459
|
|
|
NM_001039770.3(TMPPE):c.-393del
|
|
|
|
NM_001039770.3(TMPPE):c.-394C>G
|
rs2125591464
|
|
|
NM_001039770.3(TMPPE):c.-492C>T
|
rs1233290104
|
|
|
NM_001039770.3(TMPPE):c.-510T>G
|
rs886058344
|
|
|
NM_001039770.3(TMPPE):c.-512C>G
|
rs115554377
|
|
|
NM_001040616.3(LINS1):c.1219_1222+1del
|
rs587777226
|
|
|
NM_001040616.3(LINS1):c.1222+2T>C
|
|
|
|
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)
|
rs2141262985
|
|
|
NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)
|
|
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
|
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)
|
rs2141261531
|
|
|
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
|
|
|
|
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)
|
rs1596871384
|
|
|
NM_001040616.3(LINS1):c.1909G>A (p.Val637Met)
|
rs376634257
|
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
|
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)
|
rs2037687560
|
|
|
NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)
|
|
|
|
NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)
|
|
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
|
NM_001040616.3(LINS1):c.304del (p.Arg102fs)
|
rs760477654
|
|
|
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln)
|
rs2038477427
|
|
|
NM_001040616.3(LINS1):c.332A>C (p.His111Pro)
|
|
|
|
NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln)
|
|
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
|
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)
|
rs747412555
|
|
|
NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)
|
|
|
|
NM_001040616.3(LINS1):c.597del (p.Glu200fs)
|
rs1198074890
|
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
|
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)
|
rs2038007278
|
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
|
NM_001040616.3(LINS1):c.985_988del (p.His328_His329insTer)
|
rs587777225
|
|
|
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn)
|
rs2037993710
|
|
|
NM_001040716.2(PC):c.*101G>A
|
rs561169212
|
|
|
NM_001040716.2(PC):c.*106G>T
|
rs45505701
|
|
|
NM_001040716.2(PC):c.*164dup
|
rs762257488
|
|
|
NM_001040716.2(PC):c.*203T>C
|
rs886048553
|
|
|
NM_001040716.2(PC):c.*88G>A
|
rs1945295941
|
|
|
NM_001040716.2(PC):c.1-35661G>T
|
rs1555040359
|
|
|
NM_001040716.2(PC):c.1002G>C (p.Thr334=)
|
rs778602769
|
|
|
NM_001040716.2(PC):c.1020C>T (p.Thr340=)
|
rs201344655
|
|
|
NM_001040716.2(PC):c.1021G>A (p.Asp341Asn)
|
|
|
|
NM_001040716.2(PC):c.1021G>T (p.Asp341Tyr)
|
rs370810518
|
|
|
NM_001040716.2(PC):c.1022+13G>A
|
|
|
|
NM_001040716.2(PC):c.1022+15G>T
|
|
|
|
NM_001040716.2(PC):c.1022+16_1022+28del
|
|
|
|
NM_001040716.2(PC):c.1022+1G>A
|
rs1555025823
|
|
|
NM_001040716.2(PC):c.1022+20C>T
|
|
|
|
NM_001040716.2(PC):c.1023-13C>A
|
|
|
|
NM_001040716.2(PC):c.1023-13C>T
|
|
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
|
NM_001040716.2(PC):c.1023-14C>T
|
|
|
|
NM_001040716.2(PC):c.1023-14_1023-6del
|
rs2135917623
|
|
|
NM_001040716.2(PC):c.1023-15C>G
|
|
|
|
NM_001040716.2(PC):c.1023-1G>A
|
rs2135917561
|
|
|
NM_001040716.2(PC):c.1023-5T>G
|
|
|
|
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
|
|
|
|
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
|
|
|
|
NM_001040716.2(PC):c.1032G>A (p.Leu344=)
|
|
|
|
NM_001040716.2(PC):c.1038T>C (p.His346=)
|
rs2135917465
|
|
|
NM_001040716.2(PC):c.1042C>T (p.Gln348Ter)
|
rs2135917452
|
|
|
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
|
rs866715653
|
|
|
NM_001040716.2(PC):c.1050C>T (p.His350=)
|
rs770612085
|
|
|
NM_001040716.2(PC):c.1052T>C (p.Val351Ala)
|
rs1261989853
|
|
|
NM_001040716.2(PC):c.105G>A (p.Lys35=)
|
|
|
|
NM_001040716.2(PC):c.1067_1070delinsTCCACGTGGCTGAGGGCAGGCAG (p.Ser356fs)
|
rs2135917229
|
|
|
NM_001040716.2(PC):c.106_107delinsAGACAGT (p.Pro36fs)
|
|
|
|
NM_001040716.2(PC):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
|
|
|
|
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn)
|
rs780215837
|
|
|
NM_001040716.2(PC):c.1084del (p.Leu362fs)
|
rs2135917031
|
|
|
NM_001040716.2(PC):c.1089G>A (p.Arg363=)
|
|
|
|
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
|
|
|
|
NM_001040716.2(PC):c.1095G>A (p.Glu365=)
|
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
|
|
|
NM_001040716.2(PC):c.1104C>T (p.Arg368=)
|
|
|
|
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
|
|
|
|
NM_001040716.2(PC):c.111C>A (p.Ile37=)
|
|
|
|
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
|
|
|
|
NM_001040716.2(PC):c.111C>T (p.Ile37=)
|
|
|
|
NM_001040716.2(PC):c.1123C>T (p.Gln375Ter)
|
rs1310884700
|
|
|
NM_001040716.2(PC):c.112A>C (p.Lys38Gln)
|
|
|
|
NM_001040716.2(PC):c.1131G>A (p.Arg377=)
|
|
|
|
NM_001040716.2(PC):c.1131G>T (p.Arg377=)
|
rs1387922807
|
|
|
NM_001040716.2(PC):c.1146C>T (p.Asp382=)
|
rs958449027
|
|
|
NM_001040716.2(PC):c.1149C>G (p.Pro383=)
|
|
|
|
NM_001040716.2(PC):c.1151C>T (p.Ala384Val)
|
|
|
|
NM_001040716.2(PC):c.1154_1155del (p.Arg385fs)
|
rs1482845179
|
|
|
NM_001040716.2(PC):c.1167G>C (p.Pro389=)
|
rs556534486
|
|
|
NM_001040716.2(PC):c.1168dup (p.Asp390fs)
|
rs1946484568
|
|
|
NM_001040716.2(PC):c.1170C>T (p.Asp390=)
|
|
|
|
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
|
|
|
|
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
|
|
|
|
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)
|
rs1057520687
|
|
|
NM_001040716.2(PC):c.1185+14G>C
|
|
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
|
NM_001040716.2(PC):c.1186-10C>G
|
|
|
|
NM_001040716.2(PC):c.1186-12C>A
|
|
|
|
NM_001040716.2(PC):c.1186-18G>A
|
|
|
|
NM_001040716.2(PC):c.1186-1G>T
|
rs2135904801
|
|
|
NM_001040716.2(PC):c.1186-5C>T
|
|
|
|
NM_001040716.2(PC):c.1186-5del
|
|
|
|
NM_001040716.2(PC):c.1186-8T>A
|
|
|
|
NM_001040716.2(PC):c.1188G>T (p.Val396=)
|
|
|
|
NM_001040716.2(PC):c.118G>C (p.Val40Leu)
|
rs2135943669
|
|
|
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
|
|
|
|
NM_001040716.2(PC):c.1194G>C (p.Arg398=)
|
|
|
|
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)
|
rs1358651584
|
|
|
NM_001040716.2(PC):c.1219C>T (p.Leu407=)
|
|
|
|
NM_001040716.2(PC):c.1225_1227del (p.Asn409del)
|
rs1555023879
|
|
|
NM_001040716.2(PC):c.1236C>T (p.Ala412=)
|
|
|
|
NM_001040716.2(PC):c.1249G>A (p.Val417Ile)
|
|
|
|
NM_001040716.2(PC):c.1251C>T (p.Val417=)
|
|
|
|
NM_001040716.2(PC):c.1257G>C (p.Ser419=)
|
|
|
|
NM_001040716.2(PC):c.1293C>A (p.Ala431=)
|
|
|
|
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
|
|
|
|
NM_001040716.2(PC):c.1296_1304delinsGGCC (p.His432fs)
|
|
|
|
NM_001040716.2(PC):c.1308C>T (p.His436=)
|
rs776517996
|
|
|
NM_001040716.2(PC):c.1313C>T (p.Thr438Met)
|
|
|
|
NM_001040716.2(PC):c.1314G>A (p.Thr438=)
|
rs199877852
|
|
|
NM_001040716.2(PC):c.1323C>A (p.Thr441=)
|
rs2135903937
|
|
|
NM_001040716.2(PC):c.1326G>A (p.Lys442=)
|
rs1458972426
|
|
|
NM_001040716.2(PC):c.1333del (p.Arg445fs)
|
|
|
|
NM_001040716.2(PC):c.1335G>A (p.Arg445=)
|
|
|
|
NM_001040716.2(PC):c.1338C>T (p.Ala446=)
|
rs2135903866
|
|
|
NM_001040716.2(PC):c.1339del (p.Ala448fs)
|
|
|
|
NM_001040716.2(PC):c.1341T>C (p.Leu447=)
|
rs1272780127
|
|
|
NM_001040716.2(PC):c.1343C>T (p.Ala448Val)
|
|
|
|
NM_001040716.2(PC):c.1344G>T (p.Ala448=)
|
|
|
|
NM_001040716.2(PC):c.1345G>T (p.Glu449Ter)
|
rs2135903791
|
|
|
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)
|
rs113994143
|
|
|
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
|
|
|
|
NM_001040716.2(PC):c.1353C>A (p.Arg451=)
|
rs542353629
|
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
|
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
|
|
|
|
NM_001040716.2(PC):c.136+11G>T
|
|
|
|
NM_001040716.2(PC):c.136+12T>G
|
rs201652131
|
|
|
NM_001040716.2(PC):c.136+18C>T
|
|
|
|
NM_001040716.2(PC):c.136+18del
|
|
|
|
NM_001040716.2(PC):c.136+19G>A
|
|
|
|
NM_001040716.2(PC):c.136+1G>T
|
|
|
|
NM_001040716.2(PC):c.136+8C>G
|
rs944736105
|
|
|
NM_001040716.2(PC):c.136+9C>G
|
rs749948216
|
|
|
NM_001040716.2(PC):c.1368+14G>A
|
|
|
|
NM_001040716.2(PC):c.1368+17C>G
|
|
|
|
NM_001040716.2(PC):c.1368+17C>T
|
|
|
|
NM_001040716.2(PC):c.1368+19C>T
|
|
|
|
NM_001040716.2(PC):c.1368+19del
|
|
|
|
NM_001040716.2(PC):c.1368+1G>A
|
rs755640269
|
|
|
NM_001040716.2(PC):c.1368+20G>A
|
|
|
|
NM_001040716.2(PC):c.1368+20G>T
|
|
|
|
NM_001040716.2(PC):c.1368+20del
|
|
|
|
NM_001040716.2(PC):c.1368+7G>C
|
rs2135903631
|
|
|
NM_001040716.2(PC):c.1369-15G>A
|
|
|
|
NM_001040716.2(PC):c.1369-16C>T
|
|
|
|
NM_001040716.2(PC):c.1369-17C>T
|
|
|
|
NM_001040716.2(PC):c.1369-1G>C
|
rs2135822173
|
|
|
NM_001040716.2(PC):c.1369-20C>T
|
|
|
|
NM_001040716.2(PC):c.1369-4G>A
|
rs2135822186
|
|
|
NM_001040716.2(PC):c.1369-5T>C
|
rs2135822203
|
|
|
NM_001040716.2(PC):c.1369-6C>T
|
rs1591127516
|
|
|
NM_001040716.2(PC):c.1369-7C>T
|
rs2135822235
|
|
|
NM_001040716.2(PC):c.1369-8T>A
|
|
|
|
NM_001040716.2(PC):c.1369-9G>A
|
rs2135822255
|
|
|
NM_001040716.2(PC):c.137-12T>C
|
|
|
|
NM_001040716.2(PC):c.137-13C>T
|
|
|
|
NM_001040716.2(PC):c.137-4C>T
|
|
|
|
NM_001040716.2(PC):c.137-5T>A
|
|
|
|
NM_001040716.2(PC):c.137-5T>G
|
|
|
|
NM_001040716.2(PC):c.137-6C>T
|
rs779304016
|
|
|
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)
|
rs2135822119
|
|
|
NM_001040716.2(PC):c.1383C>T (p.Phe461=)
|
|
|
|
NM_001040716.2(PC):c.1395G>A (p.Val465=)
|
|
|
|
NM_001040716.2(PC):c.1395G>T (p.Val465=)
|
rs1945622051
|
|
|
NM_001040716.2(PC):c.1405C>T (p.Gln469Ter)
|
|
|
|
NM_001040716.2(PC):c.1413C>T (p.Phe471=)
|
|
|
|
NM_001040716.2(PC):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_001040716.2(PC):c.1458G>A (p.Glu486=)
|
rs2135821279
|
|
|
NM_001040716.2(PC):c.1465del (p.Gln489fs)
|
|
|
|
NM_001040716.2(PC):c.1470G>A (p.Leu490=)
|
|
|
|
NM_001040716.2(PC):c.1476T>C (p.Pro492=)
|
rs1281726180
|
|
|
NM_001040716.2(PC):c.1479A>C (p.Ala493=)
|
|
|
|
NM_001040716.2(PC):c.1479A>G (p.Ala493=)
|
rs2135821105
|
|
|
NM_001040716.2(PC):c.147C>T (p.Ala49=)
|
|
|
|
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)
|
rs1945617407
|
|
|
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp)
|
rs947957837
|
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
|
NM_001040716.2(PC):c.1497G>A (p.Lys499=)
|
|
|
|
NM_001040716.2(PC):c.1509C>T (p.Tyr503=)
|
|
|
|
NM_001040716.2(PC):c.150C>A (p.Ile50=)
|
|
|
|
NM_001040716.2(PC):c.1513+10G>C
|
rs200660481
|
|
|
NM_001040716.2(PC):c.1513+14C>T
|
rs1945613813
|
|
|
NM_001040716.2(PC):c.1513+15T>C
|
|
|
|
NM_001040716.2(PC):c.1513+17C>T
|
|
|
|
NM_001040716.2(PC):c.1513+18C>T
|
|
|
|
NM_001040716.2(PC):c.1513+1G>A
|
rs1358550062
|
|
|
NM_001040716.2(PC):c.1513+6G>A
|
rs566545355
|
|
|
NM_001040716.2(PC):c.1513+9C>A
|
rs45580638
|
|
|
NM_001040716.2(PC):c.1513+9C>T
|
rs45580638
|
|
|
NM_001040716.2(PC):c.1514-12C>T
|
|
|
|
NM_001040716.2(PC):c.1514-13G>C
|
|
|
|
NM_001040716.2(PC):c.1514-14C>T
|
|
|
|
NM_001040716.2(PC):c.1514-15C>T
|
|
|
|
NM_001040716.2(PC):c.1514-2A>G
|
rs1945585636
|
|
|
NM_001040716.2(PC):c.1514-7T>A
|
|
|
|
NM_001040716.2(PC):c.1514-8C>T
|
rs779743894
|
|
|
NM_001040716.2(PC):c.1520del (p.Val507fs)
|
|
|
|
NM_001040716.2(PC):c.1526_1529del (p.Val509fs)
|
|
|
|
NM_001040716.2(PC):c.1527A>G (p.Val509=)
|
|
|
|
NM_001040716.2(PC):c.1533_1549del (p.Pro512fs)
|
|
|
|
NM_001040716.2(PC):c.1536_1537insG (p.Thr513fs)
|
|
|
|
NM_001040716.2(PC):c.1539C>T (p.Thr513=)
|
rs1251522964
|
|
|
NM_001040716.2(PC):c.1542C>T (p.Thr514=)
|
rs2135817170
|
|
|
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
|
|
|
|
NM_001040716.2(PC):c.1560C>A (p.Ala520=)
|
rs1591125381
|
|
|
NM_001040716.2(PC):c.1560del (p.Ser521fs)
|
|
|
|
NM_001040716.2(PC):c.1563C>T (p.Ser521=)
|
|
|
|
NM_001040716.2(PC):c.1564_1565insAG (p.Pro522fs)
|
|
|
|
NM_001040716.2(PC):c.156G>A (p.Val52=)
|
|
|
|
NM_001040716.2(PC):c.156dup (p.Phe53fs)
|
|
|
|
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
|
|
|
|
NM_001040716.2(PC):c.1574C>T (p.Thr525Met)
|
|
|
|
NM_001040716.2(PC):c.1574del (p.Thr525fs)
|
|
|
|
NM_001040716.2(PC):c.1575G>T (p.Thr525=)
|
rs143833575
|
|
|
NM_001040716.2(PC):c.1581C>G (p.Pro527=)
|
rs570919766
|
|
|
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
|
|
|
|
NM_001040716.2(PC):c.1584T>C (p.Val528=)
|
|
|
|
NM_001040716.2(PC):c.1596G>A (p.Val532=)
|
|
|
|
NM_001040716.2(PC):c.1599C>T (p.Pro533=)
|
|
|
|
NM_001040716.2(PC):c.15A>G (p.Arg5=)
|
rs2135944522
|
|
|
NM_001040716.2(PC):c.1603+17C>T
|
|
|
|
NM_001040716.2(PC):c.1603+18T>G
|
|
|
|
NM_001040716.2(PC):c.1604-12T>C
|
|
|
|
NM_001040716.2(PC):c.1604-13_1604-12del
|
|
|
|
NM_001040716.2(PC):c.1604-14C>T
|
|
|
|
NM_001040716.2(PC):c.1604-15C>T
|
|
|
|
NM_001040716.2(PC):c.1604-4C>T
|
|
|
|
NM_001040716.2(PC):c.1604-6C>T
|
rs746971709
|
|
|
NM_001040716.2(PC):c.1604-7A>T
|
rs2135815923
|
|
|
NM_001040716.2(PC):c.1604-8T>A
|
|
|
|
NM_001040716.2(PC):c.1604-9C>T
|
rs1439987432
|
|
|
NM_001040716.2(PC):c.1605C>A (p.Gly535=)
|
|
|
|
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
|
|
|
|
NM_001040716.2(PC):c.1621_1623delinsAT (p.Phe541fs)
|
|
|
|
NM_001040716.2(PC):c.1638G>A (p.Leu546=)
|
|
|
|
NM_001040716.2(PC):c.1638G>T (p.Leu546=)
|
|
|
|
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)
|
|
|
|
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)
|
rs886048556
|
|
|
NM_001040716.2(PC):c.1668T>G (p.Ala556=)
|
rs1945568303
|
|
|
NM_001040716.2(PC):c.1672C>A (p.Arg558=)
|
rs752901945
|
|
|
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
|
|
|
|
NM_001040716.2(PC):c.1680C>T (p.His560=)
|
|
|
|
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
|
|
|
|
NM_001040716.2(PC):c.1683G>C (p.Pro561=)
|
|
|
|
NM_001040716.2(PC):c.1683G>T (p.Pro561=)
|
rs113071273
|
|
|
NM_001040716.2(PC):c.1687C>T (p.Leu563=)
|
rs2135814981
|
|
|
NM_001040716.2(PC):c.1689G>C (p.Leu563=)
|
|
|
|
NM_001040716.2(PC):c.169A>G (p.Thr57Ala)
|
|
|
|
NM_001040716.2(PC):c.1702_1706del (p.Thr568fs)
|
rs2135814786
|
|
|
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)
|
rs796052029
|
|
|
NM_001040716.2(PC):c.1722C>T (p.His574=)
|
rs2135814600
|
|
|
NM_001040716.2(PC):c.1737C>T (p.Ala579=)
|
rs2135814504
|
|
|
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
|
|
|
|
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
|
|
|
|
NM_001040716.2(PC):c.1745_1746del (p.Val582fs)
|
|
|
|
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
|
|
|
|
NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)
|
rs119103242
|
|
|
NM_001040716.2(PC):c.177G>A (p.Leu59=)
|
|
|
|
NM_001040716.2(PC):c.1783G>T (p.Ala595Ser)
|
|
|
|
NM_001040716.2(PC):c.1791C>T (p.Asn597=)
|
|
|
|
NM_001040716.2(PC):c.1794C>T (p.Phe598=)
|
|
|
|
NM_001040716.2(PC):c.1799dup (p.Leu601fs)
|
|
|
|
NM_001040716.2(PC):c.1803C>G (p.Leu601=)
|
|
|
|
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu)
|
rs2135813970
|
|
|
NM_001040716.2(PC):c.1806C>T (p.Phe602=)
|
|
|
|
NM_001040716.2(PC):c.1815G>A (p.Glu605=)
|
|
|
|
NM_001040716.2(PC):c.1825+10C>T
|
|
|
|
NM_001040716.2(PC):c.1825+14C>G
|
|
|
|
NM_001040716.2(PC):c.1825+17C>T
|
|
|
|
NM_001040716.2(PC):c.1825+18G>A
|
|
|
|
NM_001040716.2(PC):c.1825+18G>T
|
|
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
|
NM_001040716.2(PC):c.1825+2T>G
|
|
|
|
NM_001040716.2(PC):c.1825+2_1825+5del
|
rs2135813862
|
|
|
NM_001040716.2(PC):c.1825+3A>C
|
rs1945555370
|
|
|
NM_001040716.2(PC):c.1825+7T>C
|
rs2135813847
|
|
|
NM_001040716.2(PC):c.1826-14C>T
|
|
|
|
NM_001040716.2(PC):c.1826-18C>T
|
|
|
|
NM_001040716.2(PC):c.1826-1G>C
|
|
|
|
NM_001040716.2(PC):c.1826-4G>A
|
|
|
|
NM_001040716.2(PC):c.1826-6G>C
|
|
|
|
NM_001040716.2(PC):c.1826-8C>T
|
|
|
|
NM_001040716.2(PC):c.1826-9C>T
|
rs572703070
|
|
|
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)
|
rs28940589
|
|
|
NM_001040716.2(PC):c.1830C>T (p.Ala610=)
|
|
|
|
NM_001040716.2(PC):c.1833G>C (p.Thr611=)
|
rs138796998
|
|
|
NM_001040716.2(PC):c.183C>T (p.Ile61=)
|
|
|
|
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr)
|
rs773466708
|
|
|
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
|
|
|
|
NM_001040716.2(PC):c.1851C>T (p.Arg617=)
|
rs2135810236
|
|
|
NM_001040716.2(PC):c.1857G>A (p.Leu619=)
|
|
|
|
NM_001040716.2(PC):c.1860T>C (p.Tyr620=)
|
|
|
|
NM_001040716.2(PC):c.1873C>A (p.Arg625=)
|
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
|
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
|
rs780759271
|
|
|
NM_001040716.2(PC):c.1878G>A (p.Arg626=)
|
|
|
|
NM_001040716.2(PC):c.1890C>T (p.Leu630=)
|
rs1284772953
|
|
|
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
|
|
|
|
NM_001040716.2(PC):c.1896G>A (p.Glu632=)
|
rs745438957
|
|
|
NM_001040716.2(PC):c.1899C>G (p.Leu633=)
|
|
|
|
NM_001040716.2(PC):c.1908C>T (p.Asn636=)
|
rs2135809462
|
|
|
NM_001040716.2(PC):c.1917C>T (p.Phe639=)
|
|
|
|
NM_001040716.2(PC):c.1918C>T (p.Gln640Ter)
|
rs2135809396
|
|
|
NM_001040716.2(PC):c.1924C>T (p.Leu642=)
|
rs2135809346
|
|
|
NM_001040716.2(PC):c.1929G>A (p.Leu643=)
|
|
|
|
NM_001040716.2(PC):c.1930C>A (p.Arg644=)
|
rs1468189989
|
|
|
NM_001040716.2(PC):c.1932G>C (p.Arg644=)
|
rs1591122081
|
|
|
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly)
|
rs1565213970
|
|
|
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
|
|
|
|
NM_001040716.2(PC):c.1953C>T (p.Tyr651=)
|
rs1945510204
|
|
|
NM_001040716.2(PC):c.1968C>T (p.Asp656=)
|
rs2135808762
|
|
|
NM_001040716.2(PC):c.196A>G (p.Ile66Val)
|
rs1409511654
|
|
|
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
|
|
|
|
NM_001040716.2(PC):c.1974G>A (p.Val658=)
|
rs745327162
|
|
|
NM_001040716.2(PC):c.1980del (p.Phe660fs)
|
|
|
|
NM_001040716.2(PC):c.1982+12G>A
|
|
|
|
NM_001040716.2(PC):c.1982+13T>G
|
|
|
|
NM_001040716.2(PC):c.1982+15G>T
|
|
|
|
NM_001040716.2(PC):c.1982+16G>C
|
|
|
|
NM_001040716.2(PC):c.1982+17G>A
|
|
|
|
NM_001040716.2(PC):c.1982+18T>C
|
|
|
|
NM_001040716.2(PC):c.1982+7C>G
|
|
|
|
NM_001040716.2(PC):c.1983-10A>G
|
rs2135804777
|
|
|
NM_001040716.2(PC):c.1983-116C>T
|
rs2135805611
|
|
|
NM_001040716.2(PC):c.1983-11C>T
|
|
|
|
NM_001040716.2(PC):c.1983-15C>G
|
|
|
|
NM_001040716.2(PC):c.1983-16T>G
|
|
|
|
NM_001040716.2(PC):c.1983-18G>A
|
|
|
|
NM_001040716.2(PC):c.1983-18G>C
|
|
|
|
NM_001040716.2(PC):c.1983-19G>C
|
|
|
|
NM_001040716.2(PC):c.1983-5T>G
|
|
|
|
NM_001040716.2(PC):c.1983-7C>G
|
rs2135804751
|
|
|
NM_001040716.2(PC):c.1983-8C>T
|
|
|
|
NM_001040716.2(PC):c.1989_1990dup (p.Glu664fs)
|
|
|
|
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
|
|
|
|
NM_001040716.2(PC):c.2004_2005del (p.Asn669fs)
|
|
|
|
NM_001040716.2(PC):c.200_201del (p.Tyr67fs)
|
|
|
|
NM_001040716.2(PC):c.2016T>C (p.Asp672=)
|
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
|
NM_001040716.2(PC):c.2019C>T (p.Val673=)
|
rs1591119887
|
|
|
NM_001040716.2(PC):c.201C>T (p.Tyr67=)
|
|
|
|
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
|
|
|
|
NM_001040716.2(PC):c.2031T>C (p.Phe677=)
|
rs2135804499
|
|
|
NM_001040716.2(PC):c.2034C>T (p.Asp678=)
|
rs2135804486
|
|
|
NM_001040716.2(PC):c.2037C>A (p.Ser679=)
|
rs2135804472
|
|
|
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
|
|
|
|
NM_001040716.2(PC):c.2040C>T (p.Leu680=)
|
rs1945471644
|
|
|
NM_001040716.2(PC):c.204T>G (p.Ser68=)
|
rs372697822
|
|
|
NM_001040716.2(PC):c.2067C>T (p.Gly689=)
|
|
|
|
NM_001040716.2(PC):c.2085T>C (p.Ser695=)
|
rs2135804147
|
|
|
NM_001040716.2(PC):c.2100G>T (p.Val700=)
|
|
|
|
NM_001040716.2(PC):c.2103G>A (p.Glu701=)
|
|
|
|
NM_001040716.2(PC):c.2113_2114del (p.Ser705fs)
|
|
|
|
NM_001040716.2(PC):c.2114C>A (p.Ser705Ter)
|
rs113994146
|
|
|
NM_001040716.2(PC):c.2121G>C (p.Thr707=)
|
|
|
|
NM_001040716.2(PC):c.2130G>T (p.Val710=)
|
rs2135803710
|
|
|
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
|
|
|
|
NM_001040716.2(PC):c.2136C>T (p.Asp712=)
|
|
|
|
NM_001040716.2(PC):c.2139C>T (p.Pro713=)
|
rs1212515265
|
|
|
NM_001040716.2(PC):c.213C>T (p.Asp71=)
|
rs2135942518
|
|
|
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
|
rs1945464815
|
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
|
NM_001040716.2(PC):c.2151G>A (p.Lys717=)
|
rs1591119216
|
|
|
NM_001040716.2(PC):c.2156_2159del (p.Ser719fs)
|
rs2135803326
|
|
|
NM_001040716.2(PC):c.2157A>G (p.Ser719=)
|
rs2135803352
|
|
|
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
|
|
|
|
NM_001040716.2(PC):c.2160G>A (p.Leu720=)
|
rs1945463615
|
|
|
NM_001040716.2(PC):c.2163G>A (p.Gln721=)
|
|
|
|
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
|
|
|
|
NM_001040716.2(PC):c.216G>C (p.Thr72=)
|
rs117711892
|
|
|
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
|
|
|
|
NM_001040716.2(PC):c.2178G>A (p.Leu726=)
|
|
|
|
NM_001040716.2(PC):c.2181C>T (p.Ala727=)
|
rs761189138
|
|
|
NM_001040716.2(PC):c.2182G>A (p.Glu728Lys)
|
rs193271416
|
|
|
NM_001040716.2(PC):c.2185del (p.Glu729fs)
|
|
|
|
NM_001040716.2(PC):c.2187G>A (p.Glu729=)
|
|
|
|
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
|
|
|
|
NM_001040716.2(PC):c.2193G>C (p.Val731=)
|
|
|
|
NM_001040716.2(PC):c.2205C>T (p.Thr735=)
|
rs2135802801
|
|
|
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
|
|
|
|
NM_001040716.2(PC):c.220C>T (p.Gln74Ter)
|
|
|
|
NM_001040716.2(PC):c.2223+11C>G
|
|
|
|
NM_001040716.2(PC):c.2223+13C>T
|
rs2135802616
|
|
|
NM_001040716.2(PC):c.2223+17T>C
|
|
|
|
NM_001040716.2(PC):c.2223+18C>T
|
|
|
|
NM_001040716.2(PC):c.2223+4C>A
|
|
|
|
NM_001040716.2(PC):c.2223+7G>T
|
|
|
|
NM_001040716.2(PC):c.2223+8G>A
|
|
|
|
NM_001040716.2(PC):c.2223+9G>A
|
|
|
|
NM_001040716.2(PC):c.2224-13C>T
|
|
|
|
NM_001040716.2(PC):c.2224-13_2224-12del
|
|
|
|
NM_001040716.2(PC):c.2224-15T>A
|
|
|
|
NM_001040716.2(PC):c.2224-15T>C
|
|
|
|
NM_001040716.2(PC):c.2224-16_2224-9dup
|
rs2135801603
|
|
|
NM_001040716.2(PC):c.2224-18C>T
|
|
|
|
NM_001040716.2(PC):c.2224-20C>G
|
|
|
|
NM_001040716.2(PC):c.2224-20C>T
|
|
|
|
NM_001040716.2(PC):c.2224-31TC[10]
|
rs139065746
|
|
|
NM_001040716.2(PC):c.2224-31TC[11]
|
rs139065746
|
|
|
NM_001040716.2(PC):c.2224-31TC[12]
|
|
|
|
NM_001040716.2(PC):c.2224-31TC[7]
|
|
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
|
NM_001040716.2(PC):c.2224-3del
|
rs1292656088
|
|
|
NM_001040716.2(PC):c.2224-6C>T
|
|
|
|
NM_001040716.2(PC):c.2224-7C>T
|
rs375657263
|
|
|
NM_001040716.2(PC):c.2224-9T>C
|
|
|
|
NM_001040716.2(PC):c.2227A>G (p.Met743Val)
|
rs1591118129
|
|
|
NM_001040716.2(PC):c.2229G>T (p.Met743Ile)
|
rs28940590
|
|
|
NM_001040716.2(PC):c.2232C>G (p.Ala744=)
|
rs763631086
|
|
|
NM_001040716.2(PC):c.2232C>T (p.Ala744=)
|
rs763631086
|
|
|
NM_001040716.2(PC):c.2244G>A (p.Lys748=)
|
|
|
|
NM_001040716.2(PC):c.2250G>A (p.Thr750=)
|
rs760695580
|
|
|
NM_001040716.2(PC):c.2253C>T (p.Ala751=)
|
rs773060730
|
|
|
NM_001040716.2(PC):c.2253del (p.Cys752fs)
|
|
|
|
NM_001040716.2(PC):c.2256C>T (p.Cys752=)
|
rs1209420938
|
|
|
NM_001040716.2(PC):c.2265G>C (p.Leu755=)
|
|
|
|
NM_001040716.2(PC):c.2271C>T (p.Ser757=)
|
|
|
|
NM_001040716.2(PC):c.2274C>A (p.Ser758=)
|
rs930022211
|
|
|
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp)
|
rs563526275
|
|
|
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
|
rs1945442151
|
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
|
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
|
|
|
|
NM_001040716.2(PC):c.2292C>G (p.Pro764=)
|
rs757918962
|
|
|
NM_001040716.2(PC):c.2292del (p.Asp765fs)
|
|
|
|
NM_001040716.2(PC):c.2293G>A (p.Asp765Asn)
|
|
|
|
NM_001040716.2(PC):c.2298C>A (p.Leu766=)
|
rs2135800527
|
|
|
NM_001040716.2(PC):c.229C>T (p.Arg77Trp)
|
rs928225163
|
|
|
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)
|
rs1453225876
|
|
|
NM_001040716.2(PC):c.2328A>G (p.Ser776=)
|
|
|
|
NM_001040716.2(PC):c.2328_2329del (p.Ala778fs)
|
rs2135800153
|
|
|
NM_001040716.2(PC):c.2333C>T (p.Ala778Val)
|
rs1272540070
|
|
|
NM_001040716.2(PC):c.2337C>T (p.Gly779=)
|
|
|
|
NM_001040716.2(PC):c.2338G>T (p.Val780Leu)
|
rs572440768
|
|
|
NM_001040716.2(PC):c.2342C>T (p.Ala781Val)
|
rs2135799932
|
|
|
NM_001040716.2(PC):c.2355C>A (p.Ala785=)
|
|
|
|
NM_001040716.2(PC):c.2355C>T (p.Ala785=)
|
rs1591117204
|
|
|
NM_001040716.2(PC):c.2359dup (p.Ala787fs)
|
|
|
|
NM_001040716.2(PC):c.2369del (p.Gly790fs)
|
|
|
|
NM_001040716.2(PC):c.2379G>A (p.Val793=)
|
rs1002940972
|
|
|
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
|
|
|
|
NM_001040716.2(PC):c.2385T>C (p.Asp795=)
|
|
|
|
NM_001040716.2(PC):c.239_240insCTTGA (p.Asp81fs)
|
|
|
|
NM_001040716.2(PC):c.240A>G (p.Ala80=)
|
|
|
|
NM_001040716.2(PC):c.240A>T (p.Ala80=)
|
rs768997498
|
|
|
NM_001040716.2(PC):c.2413_2415delinsTGTATAAGAGACAG (p.Thr805fs)
|
|
|
|
NM_001040716.2(PC):c.2423C>A (p.Pro808His)
|
rs1591116883
|
|
|
NM_001040716.2(PC):c.2424C>G (p.Pro808=)
|
rs2135798968
|
|
|
NM_001040716.2(PC):c.2433G>T (p.Gly811=)
|
rs2135798894
|
|
|
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)
|
rs2135798857
|
|
|
NM_001040716.2(PC):c.2436C>T (p.Ala812=)
|
|
|
|
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
|
rs1235315835
|
|
|
NM_001040716.2(PC):c.2448T>C (p.Cys816=)
|
|
|
|
NM_001040716.2(PC):c.2453G>C (p.Arg818Thr)
|
|
|
|
NM_001040716.2(PC):c.2454A>G (p.Arg818=)
|
|
|
|
NM_001040716.2(PC):c.2457G>A (p.Gly819=)
|
|
|
|
NM_001040716.2(PC):c.2463C>T (p.Pro821=)
|
rs2135798570
|
|
|
NM_001040716.2(PC):c.2466G>C (p.Leu822=)
|
|
|
|
NM_001040716.2(PC):c.246A>G (p.Glu82=)
|
|
|
|
NM_001040716.2(PC):c.2473+10_2473+12del
|
|
|
|
NM_001040716.2(PC):c.2473+11C>T
|
|
|
|
NM_001040716.2(PC):c.2473+16G>C
|
|
|
|
NM_001040716.2(PC):c.2473+18C>T
|
|
|
|
NM_001040716.2(PC):c.2473+19C>T
|
|
|
|
NM_001040716.2(PC):c.2473+1G>C
|
rs1304770743
|
|
|
NM_001040716.2(PC):c.2473+20G>A
|
rs776906176
|
|
|
NM_001040716.2(PC):c.2473+20G>T
|
rs776906176
|
|
|
NM_001040716.2(PC):c.2473+2T>C
|
|
|
|
NM_001040716.2(PC):c.2473+2_2473+5del
|
|
|
|
NM_001040716.2(PC):c.2473+7A>G
|
rs2135798430
|
|
|
NM_001040716.2(PC):c.2474-10C>T
|
|
|
|
NM_001040716.2(PC):c.2474-11C>T
|
|
|
|
NM_001040716.2(PC):c.2474-15_2474-14del
|
|
|
|
NM_001040716.2(PC):c.2474-16T>C
|
|
|
|
NM_001040716.2(PC):c.2474-17C>T
|
|
|
|
NM_001040716.2(PC):c.2474-18_2474-13del
|
|
|
|
NM_001040716.2(PC):c.2474-22_2474-20del
|
|
|
|
NM_001040716.2(PC):c.2474-4G>A
|
rs2135796905
|
|
|
NM_001040716.2(PC):c.2474-5T>C
|
rs2135796924
|
|
|
NM_001040716.2(PC):c.2474-9T>C
|
|
|
|
NM_001040716.2(PC):c.2478G>C (p.Val826=)
|
rs928352255
|
|
|
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
|
|
|
|
NM_001040716.2(PC):c.248_249insACTCACCCAAGAT (p.Tyr84fs)
|
|
|
|
NM_001040716.2(PC):c.2490C>A (p.Arg830=)
|
rs373079885
|
|
|
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
|
|
|
|
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)
|
rs756355930
|
|
|
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile)
|
rs1945409904
|
|
|
NM_001040716.2(PC):c.249C>T (p.Ala83=)
|
|
|
|
NM_001040716.2(PC):c.2502C>T (p.Tyr834=)
|
|
|
|
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
|
|
|
|
NM_001040716.2(PC):c.2523T>C (p.Ala841=)
|
|
|
|
NM_001040716.2(PC):c.2532G>A (p.Leu844=)
|
rs1188416837
|
|
|
NM_001040716.2(PC):c.2532_2533del (p.Tyr845fs)
|
|
|
|
NM_001040716.2(PC):c.2535C>A (p.Tyr845Ter)
|
|
|
|
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu)
|
rs1270012365
|
|
|
NM_001040716.2(PC):c.2559C>A (p.Thr853=)
|
rs1255691208
|
|
|
NM_001040716.2(PC):c.2559C>T (p.Thr853=)
|
|
|
|
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
|
|
|
|
NM_001040716.2(PC):c.2568T>G (p.Ser856=)
|
rs2135795793
|
|
|
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
|
rs1946744013
|
|
|
NM_001040716.2(PC):c.2576C>A (p.Ser859Ter)
|
|
|
|
NM_001040716.2(PC):c.2581del (p.Val861fs)
|
rs2135795582
|
|
|
NM_001040716.2(PC):c.2591dup (p.Asn864fs)
|
|
|
|
NM_001040716.2(PC):c.2592T>C (p.Asn864=)
|
rs375784582
|
|
|
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
|
|
|
|
NM_001040716.2(PC):c.259G>C (p.Gly87Arg)
|
rs770055702
|
|
|
NM_001040716.2(PC):c.2604G>A (p.Gly868=)
|
rs2135795366
|
|
|
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
|
|
|
|
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)
|
rs1555015012
|
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
|
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)
|
rs1555015018
|
|
|
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
|
|
|
|
NM_001040716.2(PC):c.2613C>A (p.Tyr871Ter)
|
|
|
|
NM_001040716.2(PC):c.2613C>T (p.Tyr871=)
|
|
|
|
NM_001040716.2(PC):c.2620C>T (p.Leu874=)
|
|
|
|
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
|
|
|
|
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
|
|
|
|
NM_001040716.2(PC):c.2646G>A (p.Gly882=)
|
rs2135794916
|
|
|
NM_001040716.2(PC):c.2661C>T (p.Phe887=)
|
|
|
|
NM_001040716.2(PC):c.2667G>A (p.Glu889=)
|
|
|
|
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
|
rs1006994126
|
|
|
NM_001040716.2(PC):c.2668G>T (p.Val890Phe)
|
rs1555014957
|
|
|
NM_001040716.2(PC):c.2674A>T (p.Lys892Ter)
|
|
|
|
NM_001040716.2(PC):c.2679C>T (p.Ala893=)
|
rs1945398542
|
|
|
NM_001040716.2(PC):c.2685G>A (p.Val895=)
|
|
|
|
NM_001040716.2(PC):c.2688G>A (p.Glu896=)
|
|
|
|
NM_001040716.2(PC):c.2691C>T (p.Ala897=)
|
rs2135794398
|
|
|
NM_001040716.2(PC):c.2695del (p.Gln899fs)
|
|
|
|
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)
|
rs886048555
|
|
|
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)
|
rs1555014903
|
|
|
NM_001040716.2(PC):c.2712C>T (p.Leu904=)
|
rs1315876821
|
|
|
NM_001040716.2(PC):c.2715C>T (p.Ile905=)
|
|
|
|
NM_001040716.2(PC):c.2718+10G>C
|
|
|
|
NM_001040716.2(PC):c.2718+12_2718+13dup
|
|
|
|
NM_001040716.2(PC):c.2718+13C>A
|
|
|
|
NM_001040716.2(PC):c.2718+13C>T
|
|
|
|
NM_001040716.2(PC):c.2718+17G>A
|
|
|
|
NM_001040716.2(PC):c.2718+8C>A
|
rs375215292
|
|
|
NM_001040716.2(PC):c.2718+8C>T
|
rs375215292
|
|
|
NM_001040716.2(PC):c.2718+9G>C
|
rs201942341
|
|
|
NM_001040716.2(PC):c.2719-12C>T
|
|
|
|
NM_001040716.2(PC):c.2719-13G>A
|
|
|
|
NM_001040716.2(PC):c.2719-14G>T
|
|
|
|
NM_001040716.2(PC):c.2719-18C>T
|
|
|
|
NM_001040716.2(PC):c.2719-19T>G
|
|
|
|
NM_001040716.2(PC):c.2719-20C>T
|
|
|
|
NM_001040716.2(PC):c.2719-5C>T
|
|
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
|
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)
|
rs796052032
|
|
|
NM_001040716.2(PC):c.2727C>G (p.Pro909=)
|
|
|
|
NM_001040716.2(PC):c.2733C>T (p.Ser911=)
|
|
|
|
NM_001040716.2(PC):c.2745G>A (p.Gly915=)
|
rs2135792943
|
|
|
NM_001040716.2(PC):c.2746dup (p.Asp916fs)
|
|
|
|
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
|
|
|
|
NM_001040716.2(PC):c.2766G>A (p.Val922=)
|
rs1591113979
|
|
|
NM_001040716.2(PC):c.276C>G (p.Pro92=)
|
rs1475855830
|
|
|
NM_001040716.2(PC):c.276C>T (p.Pro92=)
|
rs1475855830
|
|
|
NM_001040716.2(PC):c.2772T>C (p.Asn924=)
|
|
|
|
NM_001040716.2(PC):c.2778G>A (p.Leu926=)
|
|
|
|
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
|
|
|
|
NM_001040716.2(PC):c.2787A>G (p.Ala929=)
|
rs2135792546
|
|
|
NM_001040716.2(PC):c.2790G>A (p.Glu930=)
|
|
|
|
NM_001040716.2(PC):c.2793C>G (p.Ala931=)
|
rs749960473
|
|
|
NM_001040716.2(PC):c.279G>T (p.Val93=)
|
|
|
|
NM_001040716.2(PC):c.2800C>T (p.Gln934Ter)
|
|
|
|
NM_001040716.2(PC):c.2804_2805del (p.Ala935fs)
|
|
|
|
NM_001040716.2(PC):c.2805G>T (p.Ala935=)
|
|
|
|
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)
|
|
|
|
NM_001040716.2(PC):c.2812C>T (p.Leu938=)
|
|
|
|
NM_001040716.2(PC):c.2814G>A (p.Leu938=)
|
|
|
|
NM_001040716.2(PC):c.2817C>T (p.Ser939=)
|
|
|
|
NM_001040716.2(PC):c.281_282insCCTT (p.Gln94fs)
|
|
|
|
NM_001040716.2(PC):c.2820T>C (p.Phe940=)
|
|
|
|
NM_001040716.2(PC):c.2825G>A (p.Arg942His)
|
|
|
|
NM_001040716.2(PC):c.2826C>A (p.Arg942=)
|
|
|
|
NM_001040716.2(PC):c.2832G>A (p.Val944=)
|
|
|
|
NM_001040716.2(PC):c.2850C>A (p.Gly950=)
|
|
|
|
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys)
|
rs2135791974
|
|
|
NM_001040716.2(PC):c.2862C>T (p.Val954=)
|
|
|
|
NM_001040716.2(PC):c.2865C>T (p.Pro955=)
|
|
|
|
NM_001040716.2(PC):c.2866dup (p.His956fs)
|
|
|
|
NM_001040716.2(PC):c.2868T>C (p.His956=)
|
rs1945375758
|
|
|
NM_001040716.2(PC):c.2874G>A (p.Gly958=)
|
rs1131855
|
|
|
NM_001040716.2(PC):c.2874dup (p.Phe959fs)
|
|
|
|
NM_001040716.2(PC):c.2876dup (p.Glu961fs)
|
rs1565209327
|
|
|
NM_001040716.2(PC):c.2898+10G>C
|
rs2135791382
|
|
|
NM_001040716.2(PC):c.2898+11C>T
|
|
|
|
NM_001040716.2(PC):c.2898+12C>G
|
|
|
|
NM_001040716.2(PC):c.2898+14A>G
|
|
|
|
NM_001040716.2(PC):c.2898+15G>C
|
|
|
|
NM_001040716.2(PC):c.2898+17A>G
|
|
|
|
NM_001040716.2(PC):c.2898+2T>C
|
rs2135791416
|
|
|
NM_001040716.2(PC):c.2898+2_2898+5del
|
|
|
|
NM_001040716.2(PC):c.2899-14G>C
|
|
|
|
NM_001040716.2(PC):c.2899-18C>T
|
|
|
|
NM_001040716.2(PC):c.2899-20T>G
|
|
|
|
NM_001040716.2(PC):c.2899-3del
|
rs752139338
|
|
|
NM_001040716.2(PC):c.2899-4C>A
|
|
|
|
NM_001040716.2(PC):c.2899-7T>C
|
|
|
|
NM_001040716.2(PC):c.2899-9G>C
|
rs372755874
|
|
|
NM_001040716.2(PC):c.2899-9G>T
|
rs372755874
|
|
|
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
|
|
|
|
NM_001040716.2(PC):c.2907G>A (p.Lys969=)
|
|
|
|
NM_001040716.2(PC):c.2913G>A (p.Leu971=)
|
|
|
|
NM_001040716.2(PC):c.2925G>A (p.Glu975=)
|
|
|
|
NM_001040716.2(PC):c.2940C>T (p.Ala980=)
|
|
|
|
NM_001040716.2(PC):c.2942C>T (p.Ser981Phe)
|
|
|
|
NM_001040716.2(PC):c.2943C>T (p.Ser981=)
|
|
|
|
NM_001040716.2(PC):c.2946C>T (p.Leu982=)
|
rs2135790495
|
|
|
NM_001040716.2(PC):c.2948dup (p.Pro984fs)
|
|
|
|
NM_001040716.2(PC):c.2949T>C (p.Pro983=)
|
|
|
|
NM_001040716.2(PC):c.2952C>G (p.Pro984=)
|
|
|
|
NM_001040716.2(PC):c.2952C>T (p.Pro984=)
|
rs1945360928
|
|
|
NM_001040716.2(PC):c.2953del (p.Leu985fs)
|
rs2135790424
|
|
|
NM_001040716.2(PC):c.295del (p.Ile99fs)
|
|
|
|
NM_001040716.2(PC):c.2970G>A (p.Leu990=)
|
rs2062718859
|
|
|
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)
|
|
|
|
NM_001040716.2(PC):c.2973G>A (p.Glu991=)
|
|
|
|
NM_001040716.2(PC):c.2974_2976del (p.Lys992del)
|
rs751225998
|
|
|
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn)
|
rs368895283
|
|
|
NM_001040716.2(PC):c.297C>A (p.Ile99=)
|
|
|
|
NM_001040716.2(PC):c.297C>T (p.Ile99=)
|
|
|
|
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
|
|
|
|
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
|
|
|
|
NM_001040716.2(PC):c.2994T>C (p.His998=)
|
|
|
|
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
|
rs1289376036
|
|
|
NM_001040716.2(PC):c.3006G>T (p.Val1002=)
|
rs1457181158
|
|
|
NM_001040716.2(PC):c.3008del (p.Thr1003fs)
|
|
|
|
NM_001040716.2(PC):c.3021G>A (p.Val1007=)
|
rs1945357309
|
|
|
NM_001040716.2(PC):c.3027A>G (p.Ser1009=)
|
|
|
|
NM_001040716.2(PC):c.3030A>G (p.Ala1010=)
|
rs1591112523
|
|
|
NM_001040716.2(PC):c.3039C>T (p.Tyr1013=)
|
rs1487683285
|
|
|
NM_001040716.2(PC):c.3042C>G (p.Pro1014=)
|
|
|
|
NM_001040716.2(PC):c.3045T>C (p.Asp1015=)
|
rs1945355490
|
|
|
NM_001040716.2(PC):c.3051T>A (p.Phe1017Leu)
|
|
|
|
NM_001040716.2(PC):c.3054C>T (p.Ala1018=)
|
|
|
|
NM_001040716.2(PC):c.3056A>G (p.His1019Arg)
|
|
|
|
NM_001040716.2(PC):c.3060C>T (p.Phe1020=)
|
rs1439546768
|
|
|
NM_001040716.2(PC):c.3066C>T (p.Asp1022=)
|
rs2135789388
|
|
|
NM_001040716.2(PC):c.3069C>T (p.Phe1023=)
|
rs753587788
|
|
|
NM_001040716.2(PC):c.306C>T (p.Ile102=)
|
|
|
|
NM_001040716.2(PC):c.3089del (p.Leu1030fs)
|
|
|
|
NM_001040716.2(PC):c.309C>T (p.Ile103=)
|
|
|
|
NM_001040716.2(PC):c.3102_3103dup (p.Thr1035fs)
|
|
|
|
NM_001040716.2(PC):c.3102dup (p.Thr1035fs)
|
rs2135789146
|
|
|
NM_001040716.2(PC):c.3114C>T (p.Phe1038=)
|
|
|
|
NM_001040716.2(PC):c.3117G>A (p.Leu1039=)
|
rs759899977
|
|
|
NM_001040716.2(PC):c.3117G>T (p.Leu1039=)
|
rs759899977
|
|
|
NM_001040716.2(PC):c.3119A>G (p.Gln1040Arg)
|
|
|
|
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
|
|
|
|
NM_001040716.2(PC):c.3122_3126del (p.Gly1041fs)
|
|
|
|
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu)
|
rs1470869408
|
|
|
NM_001040716.2(PC):c.3137_3138del (p.Glu1046fs)
|
|
|
|
NM_001040716.2(PC):c.3141G>A (p.Glu1047=)
|
|
|
|
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs)
|
rs1555014332
|
|
|
NM_001040716.2(PC):c.3146_3147+1del
|
|
|
|
NM_001040716.2(PC):c.3147+10T>C
|
|
|
|
NM_001040716.2(PC):c.3147+19T>A
|
|
|
|
NM_001040716.2(PC):c.3147+2T>C
|
rs2135788673
|
|
|
NM_001040716.2(PC):c.3147+7G>C
|
rs1945349703
|
|
|
NM_001040716.2(PC):c.3148-12C>T
|
|
|
|
NM_001040716.2(PC):c.3148-19C>G
|
|
|
|
NM_001040716.2(PC):c.3148-4G>A
|
|
|
|
NM_001040716.2(PC):c.3148-4G>C
|
rs2135786822
|
|
|
NM_001040716.2(PC):c.3148-9T>A
|
|
|
|
NM_001040716.2(PC):c.3154C>T (p.Leu1052=)
|
rs2135786784
|
|
|
NM_001040716.2(PC):c.3164del (p.Gly1055fs)
|
rs2135786710
|
|
|
NM_001040716.2(PC):c.3165C>A (p.Gly1055=)
|
|
|
|
NM_001040716.2(PC):c.316G>T (p.Ala106Ser)
|
rs868221703
|
|
|
NM_001040716.2(PC):c.3170del (p.Thr1057fs)
|
|
|
|
NM_001040716.2(PC):c.3171G>T (p.Thr1057=)
|
|
|
|
NM_001040716.2(PC):c.3180C>T (p.Ile1060=)
|
rs745677173
|
|
|
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
|
|
|
|
NM_001040716.2(PC):c.3187C>T (p.Leu1063=)
|
|
|
|
NM_001040716.2(PC):c.3189G>A (p.Leu1063=)
|
|
|
|
NM_001040716.2(PC):c.3190del (p.Ala1064fs)
|
rs2135786512
|
|
|
NM_001040716.2(PC):c.3193G>A (p.Val1065Met)
|
|
|
|
NM_001040716.2(PC):c.3195G>A (p.Val1065=)
|
|
|
|
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
|
|
|
|
NM_001040716.2(PC):c.3207C>T (p.Asn1069=)
|
|
|
|
NM_001040716.2(PC):c.3208C>T (p.Arg1070Trp)
|
|
|
|
NM_001040716.2(PC):c.3209G>A (p.Arg1070Gln)
|
|
|
|
NM_001040716.2(PC):c.321+10G>C
|
|
|
|
NM_001040716.2(PC):c.321+11T>A
|
|
|
|
NM_001040716.2(PC):c.321+12G>C
|
rs2135941845
|
|
|
NM_001040716.2(PC):c.321+13G>A
|
|
|
|
NM_001040716.2(PC):c.321+19C>G
|
|
|
|
NM_001040716.2(PC):c.321+1G>T
|
rs2135941937
|
|
|
NM_001040716.2(PC):c.321+20T>C
|
|
|
|
NM_001040716.2(PC):c.321+8C>T
|
|
|
|
NM_001040716.2(PC):c.321+9A>G
|
|
|
|
NM_001040716.2(PC):c.3212C>G (p.Ala1071Gly)
|
rs149583113
|
|
|
NM_001040716.2(PC):c.3213C>G (p.Ala1071=)
|
|
|
|
NM_001040716.2(PC):c.3216C>T (p.Gly1072=)
|
|
|
|
NM_001040716.2(PC):c.322-12C>T
|
|
|
|
NM_001040716.2(PC):c.322-16T>G
|
|
|
|
NM_001040716.2(PC):c.322-17C>T
|
|
|
|
NM_001040716.2(PC):c.322-2A>G
|
rs2135940951
|
|
|
NM_001040716.2(PC):c.322-4G>T
|
|
|
|
NM_001040716.2(PC):c.322-8A>G
|
rs778409831
|
|
|
NM_001040716.2(PC):c.322-9dup
|
rs2135941001
|
|
|
NM_001040716.2(PC):c.3222G>A (p.Arg1074=)
|
|
|
|
NM_001040716.2(PC):c.3225G>A (p.Gln1075=)
|
rs933670600
|
|
|
NM_001040716.2(PC):c.3228C>T (p.Val1076=)
|
|
|
|
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)
|
rs1555014068
|
|
|
NM_001040716.2(PC):c.3237G>A (p.Glu1079=)
|
rs1447561812
|
|
|
NM_001040716.2(PC):c.3240C>T (p.Leu1080=)
|
rs1591110612
|
|
|
NM_001040716.2(PC):c.3246G>A (p.Gly1082=)
|
rs2135785870
|
|
|
NM_001040716.2(PC):c.3249G>A (p.Gln1083=)
|
rs374682909
|
|
|
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
|
|
|
|
NM_001040716.2(PC):c.324G>A (p.Glu108=)
|
rs2135940927
|
|
|
NM_001040716.2(PC):c.3258C>T (p.Ser1086=)
|
|
|
|
NM_001040716.2(PC):c.3267C>T (p.Val1089=)
|
rs746903912
|
|
|
NM_001040716.2(PC):c.327C>T (p.Asn109=)
|
rs2135940914
|
|
|
NM_001040716.2(PC):c.3284dup (p.Met1095fs)
|
|
|
|
NM_001040716.2(PC):c.3288+10C>T
|
|
|
|
NM_001040716.2(PC):c.3288+11C>A
|
|
|
|
NM_001040716.2(PC):c.3288+12C>G
|
|
|
|
NM_001040716.2(PC):c.3288+13C>T
|
|
|
|
NM_001040716.2(PC):c.3288+14C>T
|
|
|
|
NM_001040716.2(PC):c.3288+14del
|
|
|
|
NM_001040716.2(PC):c.3288+16G>A
|
|
|
|
NM_001040716.2(PC):c.3288+17G>A
|
|
|
|
NM_001040716.2(PC):c.3288+1G>A
|
|
|
|
NM_001040716.2(PC):c.3288+1G>T
|
rs2135785399
|
|
|
NM_001040716.2(PC):c.3288+2T>C
|
rs2135785388
|
|
|
NM_001040716.2(PC):c.3288+4T>C
|
|
|
|
NM_001040716.2(PC):c.3288+5T>C
|
rs1945323792
|
|
|
NM_001040716.2(PC):c.3288+8C>T
|
rs2135785319
|
|
|
NM_001040716.2(PC):c.3289-10G>A
|
|
|
|
NM_001040716.2(PC):c.3289-10G>C
|
rs529411023
|
|
|
NM_001040716.2(PC):c.3289-10G>T
|
|
|
|
NM_001040716.2(PC):c.3289-11T>C
|
|
|
|
NM_001040716.2(PC):c.3289-12C>T
|
|
|
|
NM_001040716.2(PC):c.3289-17C>T
|
|
|
|
NM_001040716.2(PC):c.3289-20C>T
|
|
|
|
NM_001040716.2(PC):c.3289-23_3289-20dup
|
|
|
|
NM_001040716.2(PC):c.3289-8del
|
rs2135784540
|
|
|
NM_001040716.2(PC):c.3297C>T (p.His1099=)
|
rs781571109
|
|
|
NM_001040716.2(PC):c.329dup (p.Asn110fs)
|
|
|
|
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
|
rs1324931037
|
|
|
NM_001040716.2(PC):c.3309G>A (p.Lys1103=)
|
|
|
|
NM_001040716.2(PC):c.330C>T (p.Asn110=)
|
|
|
|
NM_001040716.2(PC):c.3312C>T (p.Ala1104=)
|
|
|
|
NM_001040716.2(PC):c.3316A>T (p.Lys1106Ter)
|
|
|
|
NM_001040716.2(PC):c.3318G>A (p.Lys1106=)
|
rs2135784251
|
|
|
NM_001040716.2(PC):c.3324G>A (p.Val1108=)
|
|
|
|
NM_001040716.2(PC):c.3336C>A (p.Ile1112=)
|
rs776196411
|
|
|
NM_001040716.2(PC):c.3342G>T (p.Ala1114=)
|
|
|
|
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)
|
rs2135783978
|
|
|
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs)
|
rs1555013840
|
|
|
NM_001040716.2(PC):c.3360G>A (p.Val1120=)
|
|
|
|
NM_001040716.2(PC):c.3362_3363del (p.Ile1121fs)
|
|
|
|
NM_001040716.2(PC):c.3369C>T (p.Ile1123=)
|
|
|
|
NM_001040716.2(PC):c.336T>C (p.Asp112=)
|
|
|
|
NM_001040716.2(PC):c.3375G>C (p.Val1125=)
|
rs1945311797
|
|
|
NM_001040716.2(PC):c.3377_3392del (p.Val1126fs)
|
|
|
|
NM_001040716.2(PC):c.3378G>A (p.Val1126=)
|
rs753201697
|
|
|
NM_001040716.2(PC):c.3378G>C (p.Val1126=)
|
rs753201697
|
|
|
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)
|
rs200217380
|
|
|
NM_001040716.2(PC):c.3384G>A (p.Gly1128=)
|
rs145167276
|
|
|
NM_001040716.2(PC):c.3384G>T (p.Gly1128=)
|
|
|
|
NM_001040716.2(PC):c.3386C>T (p.Ala1129Val)
|
|
|
|
NM_001040716.2(PC):c.3387C>G (p.Ala1129=)
|
rs761578681
|
|
|
NM_001040716.2(PC):c.3387C>T (p.Ala1129=)
|
|
|
|
NM_001040716.2(PC):c.3387del (p.Lys1130fs)
|
rs2135783409
|
|
|
NM_001040716.2(PC):c.3390G>A (p.Lys1130=)
|
rs200166901
|
|
|
NM_001040716.2(PC):c.3394G>A (p.Ala1132Thr)
|
|
|
|
NM_001040716.2(PC):c.3396C>T (p.Ala1132=)
|
|
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
|
NM_001040716.2(PC):c.339A>C (p.Ala113=)
|
|
|
|
NM_001040716.2(PC):c.339A>G (p.Ala113=)
|
|
|
|
NM_001040716.2(PC):c.3405G>A (p.Gln1135=)
|
rs747244374
|
|
|
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)
|
rs113994148
|
|
|
NM_001040716.2(PC):c.3414T>C (p.Cys1138=)
|
rs2135782929
|
|
|
NM_001040716.2(PC):c.342_343insTTATATT (p.His115fs)
|
|
|
|
NM_001040716.2(PC):c.3432G>A (p.Lys1144=)
|
|
|
|
NM_001040716.2(PC):c.3441T>C (p.Thr1147=)
|
|
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
|
NM_001040716.2(PC):c.3444G>A (p.Val1148=)
|
|
|
|
NM_001040716.2(PC):c.3447G>C (p.Val1149=)
|
|
|
|
NM_001040716.2(PC):c.3450C>G (p.Thr1150=)
|
|
|
|
NM_001040716.2(PC):c.3450C>T (p.Thr1150=)
|
|
|
|
NM_001040716.2(PC):c.3453A>T (p.Ser1151=)
|
rs571513074
|
|
|
NM_001040716.2(PC):c.3457A>G (p.Met1153Val)
|
|
|
|
NM_001040716.2(PC):c.345C>T (p.His115=)
|
rs2135940811
|
|
|
NM_001040716.2(PC):c.3462G>A (p.Glu1154=)
|
|
|
|
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp)
|
rs373287823
|
|
|
NM_001040716.2(PC):c.3474C>A (p.Arg1158=)
|
|
|
|
NM_001040716.2(PC):c.3475A>G (p.Lys1159Glu)
|
|
|
|
NM_001040716.2(PC):c.3477G>A (p.Lys1159=)
|
|
|
|
NM_001040716.2(PC):c.3489C>G (p.Thr1163=)
|
rs2135782288
|
|
|
NM_001040716.2(PC):c.3492G>A (p.Lys1164=)
|
|
|
|
NM_001040716.2(PC):c.3493G>T (p.Asp1165Tyr)
|
|
|
|
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
|
rs1945302855
|
|
|
NM_001040716.2(PC):c.3497T>C (p.Met1166Thr)
|
|
|
|
NM_001040716.2(PC):c.3501A>G (p.Thr1167=)
|
rs2135782194
|
|
|
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
|
|
|
|
NM_001040716.2(PC):c.3519C>T (p.Leu1173=)
|
rs2135781997
|
|
|
NM_001040716.2(PC):c.3522C>T (p.Ile1174=)
|
|
|
|
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
|
|
|
|
NM_001040716.2(PC):c.3528G>A (p.Glu1176=)
|
|
|
|
NM_001040716.2(PC):c.3531C>A (p.Ile1177=)
|
rs144982348
|
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
|
NM_001040716.2(PC):c.357G>A (p.Gly119=)
|
rs2135940780
|
|
|
NM_001040716.2(PC):c.364del (p.Ser122fs)
|
|
|
|
NM_001040716.2(PC):c.366dup (p.Glu123Ter)
|
rs2135940752
|
|
|
NM_001040716.2(PC):c.370C>T (p.Arg124Ter)
|
|
|
|
NM_001040716.2(PC):c.372_375del (p.Ala125fs)
|
rs1565245427
|
|
|
NM_001040716.2(PC):c.396G>A (p.Gln132=)
|
rs776845894
|
|
|
NM_001040716.2(PC):c.39C>G (p.Leu13=)
|
rs1440597243
|
|
|
NM_001040716.2(PC):c.39C>T (p.Leu13=)
|
|
|
|
NM_001040716.2(PC):c.408C>T (p.Val136=)
|
|
|
|
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
|
|
|
|
NM_001040716.2(PC):c.410G>T (p.Arg137Leu)
|
rs772619045
|
|
|
NM_001040716.2(PC):c.420G>C (p.Gly140=)
|
|
|
|
NM_001040716.2(PC):c.420G>T (p.Gly140=)
|
|
|
|
NM_001040716.2(PC):c.426C>T (p.Ser142=)
|
rs1184131560
|
|
|
NM_001040716.2(PC):c.429A>G (p.Pro143=)
|
rs2135940395
|
|
|
NM_001040716.2(PC):c.42G>C (p.Leu14=)
|
rs2135944286
|
|
|
NM_001040716.2(PC):c.434T>C (p.Val145Ala)
|
rs28940591
|
|
|
NM_001040716.2(PC):c.439C>G (p.Arg147Gly)
|
rs529087425
|
|
|
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
|
|
|
|
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
|
|
|
|
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
|
rs1946724126
|
|
|
NM_001040716.2(PC):c.44del (p.Gly15fs)
|
|
|
|
NM_001040716.2(PC):c.465C>G (p.Ala155=)
|
rs1336829179
|
|
|
NM_001040716.2(PC):c.465C>T (p.Ala155=)
|
rs1336829179
|
|
|
NM_001040716.2(PC):c.485C>T (p.Ala162Val)
|
rs752714051
|
|
|
NM_001040716.2(PC):c.487+11C>A
|
|
|
|
NM_001040716.2(PC):c.487+11C>T
|
|
|
|
NM_001040716.2(PC):c.488-17C>T
|
|
|
|
NM_001040716.2(PC):c.488-20C>T
|
|
|
|
NM_001040716.2(PC):c.488-6C>A
|
|
|
|
NM_001040716.2(PC):c.488-6C>T
|
rs2135939606
|
|
|
NM_001040716.2(PC):c.488-8C>T
|
|
|
|
NM_001040716.2(PC):c.492T>A (p.Val164=)
|
|
|
|
NM_001040716.2(PC):c.516C>T (p.Ala172=)
|
rs1946715352
|
|
|
NM_001040716.2(PC):c.519C>G (p.Pro173=)
|
|
|
|
NM_001040716.2(PC):c.525G>A (p.Thr175=)
|
rs370278016
|
|
|
NM_001040716.2(PC):c.525G>C (p.Thr175=)
|
rs370278016
|
|
|
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)
|
rs144583275
|
|
|
NM_001040716.2(PC):c.531G>A (p.Leu177=)
|
rs2135939413
|
|
|
NM_001040716.2(PC):c.537G>A (p.Glu179=)
|
|
|
|
NM_001040716.2(PC):c.53G>A (p.Arg18Gln)
|
|
|
|
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
|
|
|
|
NM_001040716.2(PC):c.552C>T (p.Ser184=)
|
rs1591188749
|
|
|
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
|
|
|
|
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
|
rs1946713663
|
|
|
NM_001040716.2(PC):c.564C>T (p.Gly188=)
|
|
|
|
NM_001040716.2(PC):c.567C>T (p.Phe189=)
|
rs746873070
|
|
|
NM_001040716.2(PC):c.570C>T (p.Pro190=)
|
rs1946713427
|
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
|
NM_001040716.2(PC):c.585G>A (p.Ala195=)
|
|
|
|
NM_001040716.2(PC):c.585G>C (p.Ala195=)
|
rs375925670
|
|
|
NM_001040716.2(PC):c.585G>T (p.Ala195=)
|
rs375925670
|
|
|
NM_001040716.2(PC):c.593_612del (p.Gly198fs)
|
|
|
|
NM_001040716.2(PC):c.597T>A (p.Gly199=)
|
rs1946712107
|
|
|
NM_001040716.2(PC):c.597_606delinsAA (p.Gly200fs)
|
|
|
|
NM_001040716.2(PC):c.600A>C (p.Gly200=)
|
|
|
|
NM_001040716.2(PC):c.60C>T (p.Ser20=)
|
rs1591192392
|
|
|
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
|
|
|
|
NM_001040716.2(PC):c.615G>A (p.Arg205=)
|
rs2135939020
|
|
|
NM_001040716.2(PC):c.618G>A (p.Val206=)
|
rs2135938987
|
|
|
NM_001040716.2(PC):c.624C>T (p.His208=)
|
|
|
|
NM_001040716.2(PC):c.633+16C>T
|
|
|
|
NM_001040716.2(PC):c.633+38_633+58del
|
rs1213292231
|
|
|
NM_001040716.2(PC):c.633+8A>G
|
|
|
|
NM_001040716.2(PC):c.634-11C>T
|
|
|
|
NM_001040716.2(PC):c.634-12C>G
|
|
|
|
NM_001040716.2(PC):c.634-14G>C
|
|
|
|
NM_001040716.2(PC):c.634-14G>T
|
|
|
|
NM_001040716.2(PC):c.634-17C>G
|
|
|
|
NM_001040716.2(PC):c.634-17C>T
|
|
|
|
NM_001040716.2(PC):c.634-1G>A
|
|
|
|
NM_001040716.2(PC):c.634-4G>A
|
rs368096991
|
|
|
NM_001040716.2(PC):c.634-4G>C
|
|
|
|
NM_001040716.2(PC):c.634-4G>T
|
rs368096991
|
|
|
NM_001040716.2(PC):c.634-7C>G
|
|
|
|
NM_001040716.2(PC):c.639G>A (p.Leu213=)
|
|
|
|
NM_001040716.2(PC):c.651C>T (p.Tyr217=)
|
|
|
|
NM_001040716.2(PC):c.655C>A (p.Arg219=)
|
|
|
|
NM_001040716.2(PC):c.662A>T (p.Tyr221Phe)
|
|
|
|
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
|
|
|
|
NM_001040716.2(PC):c.66C>A (p.Ala22=)
|
rs1294478419
|
|
|
NM_001040716.2(PC):c.66C>T (p.Ala22=)
|
rs1294478419
|
|
|
NM_001040716.2(PC):c.675G>A (p.Leu225=)
|
|
|
|
NM_001040716.2(PC):c.681C>A (p.Ala227=)
|
rs375016949
|
|
|
NM_001040716.2(PC):c.681C>T (p.Ala227=)
|
|
|
|
NM_001040716.2(PC):c.696G>T (p.Ala232=)
|
|
|
|
NM_001040716.2(PC):c.699G>A (p.Leu233=)
|
|
|
|
NM_001040716.2(PC):c.69C>G (p.Pro23=)
|
rs758030072
|
|
|
NM_001040716.2(PC):c.69C>T (p.Pro23=)
|
rs758030072
|
|
|
NM_001040716.2(PC):c.6G>A (p.Leu2=)
|
|
|
|
NM_001040716.2(PC):c.706G>T (p.Glu236Ter)
|
|
|
|
NM_001040716.2(PC):c.723G>A (p.Lys241=)
|
rs2135937673
|
|
|
NM_001040716.2(PC):c.731_732insGGCTTGGGATGGAG (p.His244fs)
|
|
|
|
NM_001040716.2(PC):c.732C>T (p.His244=)
|
rs1322118579
|
|
|
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001040716.2(PC):c.747C>T (p.Ile249=)
|
rs566631933
|
|
|
NM_001040716.2(PC):c.751+10C>T
|
|
|
|
NM_001040716.2(PC):c.751+11C>A
|
|
|
|
NM_001040716.2(PC):c.751+15C>A
|
|
|
|
NM_001040716.2(PC):c.751+15C>T
|
rs202075789
|
|
|
NM_001040716.2(PC):c.751+16G>A
|
|
|
|
NM_001040716.2(PC):c.751+17C>T
|
|
|
|
NM_001040716.2(PC):c.751+20C>G
|
|
|
|
NM_001040716.2(PC):c.751+20C>T
|
|
|
|
NM_001040716.2(PC):c.751+4A>G
|
rs2135937467
|
|
|
NM_001040716.2(PC):c.751+8G>C
|
|
|
|
NM_001040716.2(PC):c.752-10C>A
|
|
|
|
NM_001040716.2(PC):c.752-12C>G
|
|
|
|
NM_001040716.2(PC):c.752-13C>T
|
|
|
|
NM_001040716.2(PC):c.752-4C>A
|
rs760649111
|
|
|
NM_001040716.2(PC):c.752-4C>T
|
rs760649111
|
|
|
NM_001040716.2(PC):c.752-6C>G
|
|
|
|
NM_001040716.2(PC):c.752-8C>T
|
rs2135936097
|
|
|
NM_001040716.2(PC):c.756C>T (p.Asp252=)
|
|
|
|
NM_001040716.2(PC):c.75C>T (p.Ala25=)
|
rs886048557
|
|
|
NM_001040716.2(PC):c.764_765del (p.Gly255fs)
|
|
|
|
NM_001040716.2(PC):c.765G>A (p.Gly255=)
|
|
|
|
NM_001040716.2(PC):c.765G>C (p.Gly255=)
|
rs1377525533
|
|
|
NM_001040716.2(PC):c.768C>T (p.Asn256=)
|
rs2135935982
|
|
|
NM_001040716.2(PC):c.771C>T (p.Ile257=)
|
rs2135935969
|
|
|
NM_001040716.2(PC):c.774G>C (p.Leu258=)
|
rs2135935956
|
|
|
NM_001040716.2(PC):c.77C>T (p.Ser26Phe)
|
rs2135943988
|
|
|
NM_001040716.2(PC):c.786G>A (p.Glu262=)
|
rs200030109
|
|
|
NM_001040716.2(PC):c.787C>A (p.Arg263=)
|
|
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
|
NM_001040716.2(PC):c.789A>T (p.Arg263=)
|
rs1946677605
|
|
|
NM_001040716.2(PC):c.78C>T (p.Ser26=)
|
|
|
|
NM_001040716.2(PC):c.795C>T (p.Cys265=)
|
rs1484456027
|
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
|
NM_001040716.2(PC):c.804G>A (p.Gln268=)
|
|
|
|
NM_001040716.2(PC):c.810G>A (p.Arg270=)
|
|
|
|
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)
|
rs1591186383
|
|
|
NM_001040716.2(PC):c.820G>A (p.Val274Met)
|
|
|
|
NM_001040716.2(PC):c.831T>C (p.Ile277=)
|
|
|
|
NM_001040716.2(PC):c.834C>A (p.Ala278=)
|
rs2135935377
|
|
|
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
|
rs752585997
|
|
|
NM_001040716.2(PC):c.838_844del (p.Ala280fs)
|
|
|
|
NM_001040716.2(PC):c.840C>A (p.Ala280=)
|
|
|
|
NM_001040716.2(PC):c.840C>T (p.Ala280=)
|
rs376393322
|
|
|
NM_001040716.2(PC):c.846C>A (p.His282Gln)
|
|
|
|
NM_001040716.2(PC):c.861T>C (p.Leu287=)
|
rs2135935162
|
|
|
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
|
|
|
|
NM_001040716.2(PC):c.885T>C (p.Ser295=)
|
rs1320318568
|
|
|
NM_001040716.2(PC):c.885_888del (p.Val296fs)
|
|
|
|
NM_001040716.2(PC):c.888G>A (p.Val296=)
|
rs1342125656
|
|
|
NM_001040716.2(PC):c.88C>T (p.Arg30Trp)
|
|
|
|
NM_001040716.2(PC):c.88del (p.Arg30fs)
|
|
|
|
NM_001040716.2(PC):c.894C>G (p.Leu298=)
|
|
|
|
NM_001040716.2(PC):c.897T>C (p.Ala299=)
|
rs2135934934
|
|
|
NM_001040716.2(PC):c.903+18C>T
|
|
|
|
NM_001040716.2(PC):c.903+20T>C
|
|
|
|
NM_001040716.2(PC):c.903+2T>A
|
rs1946669738
|
|
|
NM_001040716.2(PC):c.904-12C>T
|
|
|
|
NM_001040716.2(PC):c.904-4A>G
|
|
|
|
NM_001040716.2(PC):c.904-4A>T
|
|
|
|
NM_001040716.2(PC):c.904-5dup
|
rs2135929887
|
|
|
NM_001040716.2(PC):c.904-9C>T
|
|
|
|
NM_001040716.2(PC):c.908del (p.Gly303fs)
|
|
|
|
NM_001040716.2(PC):c.913G>T (p.Glu305Ter)
|
rs1487446205
|
|
|
NM_001040716.2(PC):c.92G>A (p.Arg31His)
|
|
|
|
NM_001040716.2(PC):c.930G>C (p.Val310=)
|
|
|
|
NM_001040716.2(PC):c.933G>A (p.Glu311=)
|
|
|
|
NM_001040716.2(PC):c.948G>A (p.Arg316=)
|
rs2135929486
|
|
|
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
|
|
|
|
NM_001040716.2(PC):c.954C>A (p.Gly318=)
|
|
|
|
NM_001040716.2(PC):c.954C>G (p.Gly318=)
|
rs370324997
|
|
|
NM_001040716.2(PC):c.966C>T (p.Phe322=)
|
|
|
|
NM_001040716.2(PC):c.96G>A (p.Leu32=)
|
rs1057520946
|
|
|
NM_001040716.2(PC):c.972G>A (p.Glu324=)
|
|
|
|
NM_001040716.2(PC):c.978C>T (p.Asn326=)
|
|
|
|
NM_001040716.2(PC):c.993G>A (p.Val331=)
|
rs761183180
|
|
|
NM_001041.3(SI):c.*473G>A
|
rs1717036361
|
|
|
NM_001041.4(SI):c.*151A>G
|
rs1260115524
|
|
|
NM_001041.4(SI):c.*229T>C
|
rs886058140
|
|
|
NM_001041.4(SI):c.*314del
|
rs145227457
|
|
|
NM_001041.4(SI):c.1022T>C (p.Leu341Pro)
|
rs267607049
|
|
|
NM_001041.4(SI):c.1147-13T>A
|
rs771233611
|
|
|
NM_001041.4(SI):c.119-11dup
|
rs533057264
|
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
|
NM_001041.4(SI):c.1380T>C (p.Ser460=)
|
rs886058148
|
|
|
NM_001041.4(SI):c.1399-402_1513-1189dup
|
|
|
|
NM_001041.4(SI):c.1506T>G (p.Leu502=)
|
rs113511967
|
|
|
NM_001041.4(SI):c.1567A>C (p.Asn523His)
|
rs780055379
|
|
|
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
|
rs1034161542
|
|
|
NM_001041.4(SI):c.16T>C (p.Phe6Leu)
|
rs886058151
|
|
|
NM_001041.4(SI):c.1715+14C>A
|
rs867982218
|
|
|
NM_001041.4(SI):c.1859T>C (p.Leu620Pro)
|
rs121912613
|
|
|
NM_001041.4(SI):c.1910T>G (p.Phe637Cys)
|
rs886058147
|
|
|
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)
|
rs967166732
|
|
|
NM_001041.4(SI):c.2025dup (p.Gly676fs)
|
rs2108219188
|
|
|
NM_001041.4(SI):c.2159+2T>G
|
rs1553775177
|
|
|
NM_001041.4(SI):c.2242C>T (p.Gln748Ter)
|
rs2108217077
|
|
|
NM_001041.4(SI):c.2244+14G>A
|
rs114458546
|
|
|
NM_001041.4(SI):c.2361A>C (p.Ile787=)
|
rs116791931
|
|
|
NM_001041.4(SI):c.2381G>T (p.Gly794Val)
|
rs886058146
|
|
|
NM_001041.4(SI):c.2426+1G>A
|
|
|
|
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
|
rs370537003
|
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
|
NM_001041.4(SI):c.2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-12_2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-17_2737-11del
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-1G>C
|
rs1294620045
|
|
|
NM_001041.4(SI):c.2737-23_2737-22dup
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-23dup
|
rs11452619
|
|
|
NM_001041.4(SI):c.2737-8del
|
rs886058145
|
|
|
NM_001041.4(SI):c.2737-9dup
|
rs747324303
|
|
|
NM_001041.4(SI):c.273_274del (p.Gly92fs)
|
|
|
|
NM_001041.4(SI):c.2772A>G (p.Gly924=)
|
rs1712190551
|
|
|
NM_001041.4(SI):c.2859A>G (p.Gln953=)
|
rs1444268809
|
|
|
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)
|
rs2108202378
|
|
|
NM_001041.4(SI):c.3064G>A (p.Val1022Met)
|
rs201018248
|
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
|
NM_001041.4(SI):c.3423+10A>G
|
rs200899300
|
|
|
NM_001041.4(SI):c.350A>G (p.Gln117Arg)
|
rs121912612
|
|
|
NM_001041.4(SI):c.3540T>C (p.Thr1180=)
|
rs759754319
|
|
|
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
|
rs762898979
|
|
|
NM_001041.4(SI):c.3586_3587del (p.Met1196fs)
|
rs780535026
|
|
|
NM_001041.4(SI):c.3634-5del
|
rs750773954
|
|
|
NM_001041.4(SI):c.3686G>A (p.Cys1229Tyr)
|
rs121912614
|
|
|
NM_001041.4(SI):c.371T>C (p.Ile124Thr)
|
rs889224862
|
|
|
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
|
rs779155501
|
|
|
NM_001041.4(SI):c.373+11C>T
|
rs373374968
|
|
|
NM_001041.4(SI):c.374-11del
|
rs11313475
|
|
|
NM_001041.4(SI):c.374-11dup
|
rs11313475
|
|
|
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)
|
rs886058144
|
|
|
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)
|
rs886058143
|
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
|
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)
|
rs747041492
|
|
|
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
|
rs1718841872
|
|
|
NM_001041.4(SI):c.4077T>C (p.His1359=)
|
rs886058142
|
|
|
NM_001041.4(SI):c.4191G>A (p.Glu1397=)
|
rs886058141
|
|
|
NM_001041.4(SI):c.4209T>C (p.Asn1403=)
|
rs113826825
|
|
|
NM_001041.4(SI):c.4267+9T>C
|
rs1718590792
|
|
|
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
|
rs1717913697
|
|
|
NM_001041.4(SI):c.4793A>T (p.His1598Leu)
|
rs562705407
|
|
|
NM_001041.4(SI):c.483+8T>G
|
rs1714387601
|
|
|
NM_001041.4(SI):c.4841+15T>A
|
rs1041663787
|
|
|
NM_001041.4(SI):c.4842-3G>A
|
rs112107483
|
|
|
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)
|
rs150702232
|
|
|
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)
|
rs760505676
|
|
|
NM_001041.4(SI):c.4999G>A (p.Val1667Ile)
|
rs142018224
|
|
|
NM_001041.4(SI):c.5198-20dup
|
rs566002300
|
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
|
NM_001041.4(SI):c.5319T>C (p.His1773=)
|
rs774545616
|
|
|
NM_001041.4(SI):c.5385G>A (p.Ser1795=)
|
rs759867192
|
|
|
NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)
|
|
|
|
NM_001041.4(SI):c.567G>A (p.Leu189=)
|
rs76463353
|
|
|
NM_001041.4(SI):c.570T>A (p.Tyr190Ter)
|
|
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
|
NM_001041.4(SI):c.635+3A>G
|
rs879204269
|
|
|
NM_001041.4(SI):c.636-14_636-10del
|
rs886058150
|
|
|
NM_001041.4(SI):c.636-22_636-19del
|
rs558953371
|
|
|
NM_001041.4(SI):c.793del (p.Gln265fs)
|
rs1714177959
|
|
|
NM_001041.4(SI):c.853G>T (p.Glu285Ter)
|
rs758259365
|
|
|
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
|
|
|
|
NM_001042351.1(G6PD):c.[376A>G;542A>T]
|
|
|
|
NM_001042351.3(G6PD):c.-9+14C>G
|
rs2070776414
|
|
|
NM_001042351.3(G6PD):c.-9+2T>G
|
|
|
|
NM_001064.4(TKT):c.1136G>A (p.Arg379His)
|
|
|
|
NM_001064.4(TKT):c.1265-47G>C
|
rs3736155
|
|
|
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)
|
|
|
|
NM_001064.4(TKT):c.1697-49C>T
|
rs3816767
|
|
|
NM_001064.4(TKT):c.633G>A (p.Trp211Ter)
|
rs868953318
|
|
|
NM_001080510.5(METTL23):c.126del (p.Lys42fs)
|
rs2143866789
|
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
|
NM_001080510.5(METTL23):c.178dup (p.Glu60fs)
|
rs1382444181
|
|
|
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
|
|
|
|
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
|
|
|
|
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)
|
rs773937309
|
|
|
NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)
|
rs587777645
|
|
|
NM_001080510.5(METTL23):c.322+1del
|
|
|
|
NM_001080510.5(METTL23):c.322+2dup
|
|
|
|
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)
|
rs587777646
|
|
|
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
|
|
|
|
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys)
|
rs2077335572
|
|
|
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr)
|
rs138247613
|
|
|
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val)
|
rs1395171597
|
|
|
NM_001099857.5(IKBKG):c.-16+1G>T
|
rs2148357351
|
|
|
NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)
|
rs1173787317
|
|
|
NM_001104647.3(SLC25A36):c.284+3A>T
|
|
|
|
NM_001104647.3(SLC25A36):c.803dup (p.Ser269fs)
|
|
|
|
NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter)
|
rs1563978827
|
|
|
NM_001136035.4(TRMT1):c.1019+9G>C
|
rs375881785
|
|
|
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
|
|
|
|
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser)
|
rs753225455
|
|
|
NM_001136035.4(TRMT1):c.1106+26G>C
|
rs35601737
|
|
|
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
|
|
|
|
NM_001136035.4(TRMT1):c.1332_1333del (p.Tyr445fs)
|
rs1203487591
|
|
|
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
|
|
|
|
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter)
|
rs2145578013
|
|
|
NM_001136035.4(TRMT1):c.1506+1G>T
|
rs1568361011
|
|
|
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)
|
rs751298016
|
|
|
NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter)
|
rs763302328
|
|
|
NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)
|
|
|
|
NM_001136035.4(TRMT1):c.1834-7C>T
|
|
|
|
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter)
|
rs1357887994
|
|
|
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter)
|
rs2019344087
|
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
|
NM_001136035.4(TRMT1):c.311-1G>A
|
rs2019322057
|
|
|
NM_001136035.4(TRMT1):c.312del (p.Lys105fs)
|
rs2019321826
|
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
|
NM_001136035.4(TRMT1):c.458del (p.Gly153fs)
|
|
|
|
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp)
|
rs1006351159
|
|
|
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)
|
rs746572548
|
|
|
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala)
|
rs759911177
|
|
|
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
|
|
|
|
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His)
|
rs1247214249
|
|
|
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1496-3C>T
|
rs942972668
|
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
|
NM_001160372.4(TRAPPC9):c.1623-1G>A
|
|
|
|
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.175del (p.His59fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1840C>T (p.Arg614Ter)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs)
|
rs2131714597
|
|
|
NM_001160372.4(TRAPPC9):c.2019_2022del (p.Leu674fs)
|
rs2131714307
|
|
|
NM_001160372.4(TRAPPC9):c.203G>A (p.Trp68Ter)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2123del (p.His708fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2186del (p.Gly729fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
|
NM_001160372.4(TRAPPC9):c.2458_2459del (p.Leu820fs)
|
rs2131321455
|
|
|
NM_001160372.4(TRAPPC9):c.2520dup (p.Glu841fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2557-2A>C
|
rs1587520018
|
|
|
NM_001160372.4(TRAPPC9):c.2699+1G>A
|
rs2131922149
|
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
|
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp)
|
rs759330508
|
|
|
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
|
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
|
|
|
|
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
|
|
|
|
NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter)
|
rs786205595
|
|
|
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro)
|
rs1829977055
|
|
|
NM_001160372.4(TRAPPC9):c.3280-8C>G
|
rs752940904
|
|
|
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs)
|
rs1174482090
|
|
|
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
|
|
|
|
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs)
|
rs1554689877
|
|
|
NM_001160372.4(TRAPPC9):c.584+1G>A
|
rs1292031022
|
|
|
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs)
|
rs886062727
|
|
|
NM_001160372.4(TRAPPC9):c.731-31_731-11del
|
rs11267571
|
|
|
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)
|
|
|
|
NM_001164277.1(SLC37A4):c.529_533del
|
rs2089891548
|
|
|
NM_001164277.2(SLC37A4):c.*11G>A
|
rs978301169
|
|
|
NM_001164277.2(SLC37A4):c.*12G>A
|
rs1221264103
|
|
|
NM_001164277.2(SLC37A4):c.*139G>T
|
rs886047747
|
|
|
NM_001164277.2(SLC37A4):c.*1AG[2]
|
rs782195068
|
|
|
NM_001164277.2(SLC37A4):c.*360C>G
|
rs886047744
|
|
|
NM_001164277.2(SLC37A4):c.*5A>C
|
rs373050741
|
|
|
NM_001164277.2(SLC37A4):c.*5A>G
|
rs373050741
|
|
|
NM_001164277.2(SLC37A4):c.*5A>T
|
rs373050741
|
|
|
NM_001164277.2(SLC37A4):c.-108G>A
|
rs536032716
|
|
|
NM_001164277.2(SLC37A4):c.-10C>G
|
rs782655025
|
|
|
NM_001164277.2(SLC37A4):c.-13G>T
|
rs1555191914
|
|
|
NM_001164277.2(SLC37A4):c.-15C>T
|
rs1210959942
|
|
|
NM_001164277.2(SLC37A4):c.-16C>A
|
rs1555191915
|
|
|
NM_001164277.2(SLC37A4):c.-16C>G
|
rs1555191915
|
|
|
NM_001164277.2(SLC37A4):c.-195-11G>T
|
rs886047751
|
|
|
NM_001164277.2(SLC37A4):c.-217G>A
|
rs527772065
|
|
|
NM_001164277.2(SLC37A4):c.-291del
|
rs754442670
|
|
|
NM_001164277.2(SLC37A4):c.-2C>T
|
rs1318999121
|
|
|
NM_001164277.2(SLC37A4):c.-384G>A
|
rs886047753
|
|
|
NM_001164277.2(SLC37A4):c.-439T>C
|
rs1943713097
|
|
|
NM_001164277.2(SLC37A4):c.-498G>T
|
rs1555192177
|
|
|
NM_001164277.2(SLC37A4):c.-504G>C
|
rs1045560610
|
|
|
NM_001164277.2(SLC37A4):c.-506A>G
|
rs1555192180
|
|
|
NM_001164277.2(SLC37A4):c.-528C>T
|
rs1555192184
|
|
|
NM_001164277.2(SLC37A4):c.-535G>A
|
rs138523194
|
|
|
NM_001164277.2(SLC37A4):c.-594A>T
|
rs993428424
|
|
|
NM_001164277.2(SLC37A4):c.-99A>G
|
rs1943684789
|
|
|
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)
|
rs1326123837
|
|
|
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)
|
rs782726848
|
|
|
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=)
|
rs2134628485
|
|
|
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
|
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)
|
rs938040106
|
|
|
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)
|
rs1555190535
|
|
|
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)
|
rs1555190525
|
|
|
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)
|
rs1555190521
|
|
|
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)
|
rs1555190517
|
|
|
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)
|
rs1555190513
|
|
|
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)
|
rs782533083
|
|
|
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)
|
rs1555190509
|
|
|
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)
|
rs1210588522
|
|
|
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=)
|
rs368615623
|
|
|
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)
|
rs2134628172
|
|
|
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)
|
rs1943524404
|
|
|
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)
|
rs1342845276
|
|
|
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)
|
rs1555190504
|
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
|
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)
|
rs547488738
|
|
|
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)
|
rs1555190486
|
|
|
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=)
|
rs1592108548
|
|
|
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)
|
rs1555190480
|
|
|
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)
|
rs1555190477
|
|
|
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)
|
rs782182577
|
|
|
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)
|
rs781797026
|
|
|
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=)
|
rs2134627864
|
|
|
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=)
|
rs1555191843
|
|
|
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=)
|
rs2134627842
|
|
|
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)
|
rs1555190455
|
|
|
NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=)
|
rs1592108432
|
|
|
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)
|
rs1555190443
|
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
|
NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=)
|
rs886047749
|
|
|
NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+12C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+17A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>C
|
rs782630676
|
|
|
NM_001164277.2(SLC37A4):c.1124+20G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+26C>T
|
rs782811246
|
|
|
NM_001164277.2(SLC37A4):c.1124+34C>T
|
rs1555190425
|
|
|
NM_001164277.2(SLC37A4):c.1124+36C>A
|
rs547915912
|
|
|
NM_001164277.2(SLC37A4):c.1124+38C>G
|
rs1184172656
|
|
|
NM_001164277.2(SLC37A4):c.1124+38C>T
|
rs1184172656
|
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>G
|
rs1555190440
|
|
|
NM_001164277.2(SLC37A4):c.1124+51T>C
|
rs1555190420
|
|
|
NM_001164277.2(SLC37A4):c.1124+55G>A
|
rs1555190418
|
|
|
NM_001164277.2(SLC37A4):c.1124+57C>T
|
rs1555190417
|
|
|
NM_001164277.2(SLC37A4):c.1124+5G>A
|
rs2134627689
|
|
|
NM_001164277.2(SLC37A4):c.1124+7G>A
|
rs1555190438
|
|
|
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-10C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-11C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-12T>A
|
rs2134627316
|
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
|
NM_001164277.2(SLC37A4):c.1125-15C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-1G>A
|
rs782202675
|
|
|
NM_001164277.2(SLC37A4):c.1125-3C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-4A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
|
NM_001164277.2(SLC37A4):c.1125-6del
|
rs1565686054
|
|
|
NM_001164277.2(SLC37A4):c.1125-7C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-7dup
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-8C>T
|
rs1555190404
|
|
|
NM_001164277.2(SLC37A4):c.1125-9C>T
|
rs1592108198
|
|
|
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)
|
rs781962569
|
|
|
NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=)
|
rs962377661
|
|
|
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)
|
rs1555190400
|
|
|
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=)
|
rs2134627010
|
|
|
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)
|
rs1555190399
|
|
|
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=)
|
rs1943511879
|
|
|
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)
|
rs782603818
|
|
|
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)
|
rs1440498520
|
|
|
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=)
|
rs1943511456
|
|
|
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=)
|
rs1943511456
|
|
|
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)
|
rs1464199067
|
|
|
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)
|
rs1555190395
|
|
|
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)
|
rs1943511012
|
|
|
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)
|
rs1555190394
|
|
|
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
|
rs2134626765
|
|
|
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)
|
rs1555190388
|
|
|
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)
|
rs1555190381
|
|
|
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)
|
rs2134626678
|
|
|
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)
|
rs2134644472
|
|
|
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)
|
rs1555190378
|
|
|
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
|
|
|
|
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)
|
rs781909798
|
|
|
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)
|
rs781818280
|
|
|
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)
|
rs1592107877
|
|
|
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)
|
rs886047748
|
|
|
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)
|
rs782470624
|
|
|
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)
|
rs1555190367
|
|
|
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)
|
rs1555190359
|
|
|
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)
|
rs2134626404
|
|
|
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)
|
rs2134626360
|
|
|
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)
|
rs782594411
|
|
|
NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)
|
rs890913792
|
|
|
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)
|
rs1555190347
|
|
|
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)
|
rs2134626279
|
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
|
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)
|
rs781849575
|
|
|
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)
|
rs1438944888
|
|
|
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)
|
rs781846380
|
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
|
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)
|
rs782137743
|
|
|
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)
|
rs1245752008
|
|
|
NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
|
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)
|
|
|
|
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=)
|
rs1943673151
|
|
|
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)
|
rs1555191835
|
|
|
NM_001164277.2(SLC37A4):c.139G>C (p.Asp47His)
|
rs1943672924
|
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
|
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)
|
rs1555191832
|
|
|
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=)
|
rs373540523
|
|
|
NM_001164277.2(SLC37A4):c.148+16G>A
|
rs2134643318
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>T
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+20G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
|
NM_001164277.2(SLC37A4):c.148+4A>G
|
rs1943672237
|
|
|
NM_001164277.2(SLC37A4):c.148+6C>T
|
rs1565691594
|
|
|
NM_001164277.2(SLC37A4):c.148+7C>T
|
rs782814241
|
|
|
NM_001164277.2(SLC37A4):c.148+7_148+8del
|
|
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
|
NM_001164277.2(SLC37A4):c.149-17T>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149-18G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149-20A>G
|
rs1555191648
|
|
|
NM_001164277.2(SLC37A4):c.149-21T>G
|
rs1555191649
|
|
|
NM_001164277.2(SLC37A4):c.149-22C>T
|
rs369353938
|
|
|
NM_001164277.2(SLC37A4):c.149-2A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.149-35del
|
rs1555191655
|
|
|
NM_001164277.2(SLC37A4):c.149-6del
|
rs2134640825
|
|
|
NM_001164277.2(SLC37A4):c.149-8C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.149-9T>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)
|
rs2134644442
|
|
|
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=)
|
rs202137454
|
|
|
NM_001164277.2(SLC37A4):c.152TCA[1] (p.Ile52del)
|
rs1943642881
|
|
|
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=)
|
rs1352116986
|
|
|
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)
|
rs1565690903
|
|
|
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)
|
|
|
|
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=)
|
rs2134640708
|
|
|
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)
|
rs1555191904
|
|
|
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=)
|
rs1555191904
|
|
|
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)
|
rs1555191637
|
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
|
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=)
|
rs782548085
|
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
|
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)
|
rs374848317
|
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
|
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)
|
rs1555191626
|
|
|
NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)
|
|
|
|
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)
|
rs1555191625
|
|
|
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)
|
rs1359256648
|
|
|
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)
|
|
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
|
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=)
|
rs1295497535
|
|
|
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=)
|
rs2134640432
|
|
|
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)
|
rs1555191603
|
|
|
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)
|
rs948802122
|
|
|
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)
|
rs782429783
|
|
|
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)
|
rs1417623185
|
|
|
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
|
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
|
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)
|
rs1191615872
|
|
|
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)
|
|
|
|
NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)
|
|
|
|
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
|
rs2134640168
|
|
|
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
|
|
|
|
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=)
|
rs2134640137
|
|
|
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=)
|
rs1555191590
|
|
|
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=)
|
rs1555191590
|
|
|
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)
|
rs193302886
|
|
|
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=)
|
rs782292086
|
|
|
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=)
|
rs2134640047
|
|
|
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)
|
rs1555191582
|
|
|
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)
|
rs1555191580
|
|
|
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)
|
rs1280285676
|
|
|
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)
|
rs1555191573
|
|
|
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)
|
rs782563826
|
|
|
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=)
|
rs2134644380
|
|
|
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=)
|
rs1555191568
|
|
|
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)
|
rs1555191568
|
|
|
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=)
|
rs2134639947
|
|
|
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)
|
rs546577012
|
|
|
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)
|
rs561054469
|
|
|
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)
|
rs1555191550
|
|
|
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=)
|
rs782803340
|
|
|
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)
|
rs1171686379
|
|
|
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=)
|
rs2134639818
|
|
|
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=)
|
rs11552540
|
|
|
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)
|
rs1399227780
|
|
|
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)
|
|
|
|
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)
|
rs1356550790
|
|
|
NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)
|
|
|
|
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)
|
rs2134639714
|
|
|
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)
|
rs1376674013
|
|
|
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)
|
rs782188658
|
|
|
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=)
|
rs782188658
|
|
|
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=)
|
rs1555191533
|
|
|
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)
|
rs1311198538
|
|
|
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)
|
rs1158229491
|
|
|
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)
|
rs1045954164
|
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
|
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=)
|
rs1555191522
|
|
|
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)
|
rs1254956942
|
|
|
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)
|
rs1555191518
|
|
|
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)
|
rs1555191517
|
|
|
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=)
|
rs1218213940
|
|
|
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)
|
rs1555191512
|
|
|
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)
|
rs1555191510
|
|
|
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=)
|
rs137940481
|
|
|
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)
|
|
|
|
NM_001164277.2(SLC37A4):c.381+18G>T
|
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>T
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.381+4A>G
|
rs1555191499
|
|
|
NM_001164277.2(SLC37A4):c.381+5G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.381+8C>T
|
rs782284449
|
|
|
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)
|
rs1315203966
|
|
|
NM_001164277.2(SLC37A4):c.382-15C>T
|
rs1555191417
|
|
|
NM_001164277.2(SLC37A4):c.382-19G>T
|
rs1380601197
|
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
|
NM_001164277.2(SLC37A4):c.382-1del
|
rs1555191406
|
|
|
NM_001164277.2(SLC37A4):c.382-20T>G
|
|
|
|
NM_001164277.2(SLC37A4):c.382-2A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.382-3C>G
|
rs1555191407
|
|
|
NM_001164277.2(SLC37A4):c.382-5C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.382-6C>A
|
rs756248657
|
|
|
NM_001164277.2(SLC37A4):c.382-6C>T
|
rs756248657
|
|
|
NM_001164277.2(SLC37A4):c.382-7C>T
|
rs2134638535
|
|
|
NM_001164277.2(SLC37A4):c.382-8C>T
|
rs2134638543
|
|
|
NM_001164277.2(SLC37A4):c.382-9G>C
|
rs985534169
|
|
|
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)
|
rs1555191405
|
|
|
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)
|
rs1555191405
|
|
|
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)
|
rs1555191401
|
|
|
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)
|
rs1465764979
|
|
|
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)
|
rs752687782
|
|
|
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)
|
rs2134638421
|
|
|
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)
|
rs767772187
|
|
|
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)
|
rs1555191386
|
|
|
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=)
|
rs377452076
|
|
|
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=)
|
rs2134638267
|
|
|
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)
|
rs2134638252
|
|
|
NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)
|
|
|
|
NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)
|
|
|
|
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)
|
rs1555191378
|
|
|
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=)
|
rs766732034
|
|
|
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=)
|
rs766732034
|
|
|
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=)
|
rs1250941400
|
|
|
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)
|
rs1555191372
|
|
|
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=)
|
rs2134638161
|
|
|
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)
|
rs1555191883
|
|
|
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)
|
rs1555191353
|
|
|
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=)
|
rs1555191349
|
|
|
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)
|
rs1555191880
|
|
|
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=)
|
rs1555191880
|
|
|
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=)
|
rs1395373487
|
|
|
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)
|
rs1395094300
|
|
|
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)
|
rs1555191879
|
|
|
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=)
|
rs775227522
|
|
|
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=)
|
rs2134637952
|
|
|
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)
|
rs369399624
|
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
|
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
|
rs1943618079
|
|
|
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)
|
rs1233639372
|
|
|
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup)
|
rs2134637839
|
|
|
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)
|
rs1555191907
|
|
|
NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)
|
|
|
|
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)
|
|
|
|
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)
|
rs1397362093
|
|
|
NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)
|
|
|
|
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)
|
rs1432294427
|
|
|
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)
|
rs369409989
|
|
|
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=)
|
rs1010838306
|
|
|
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)
|
rs56966114
|
|
|
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)
|
rs2134637643
|
|
|
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)
|
|
|
|
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=)
|
rs1780828602
|
|
|
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=)
|
rs760217061
|
|
|
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)
|
rs193302893
|
|
|
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)
|
rs1555191258
|
|
|
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=)
|
rs1300746467
|
|
|
NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)
|
|
|
|
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=)
|
rs891986567
|
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
|
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)
|
rs1943614259
|
|
|
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)
|
rs1452797070
|
|
|
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=)
|
rs1555191248
|
|
|
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)
|
rs1555191237
|
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
|
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)
|
rs1555191231
|
|
|
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)
|
rs1041686986
|
|
|
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)
|
rs1555191222
|
|
|
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)
|
rs2134644210
|
|
|
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=)
|
rs1565689217
|
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
|
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)
|
rs2134637316
|
|
|
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=)
|
rs750870724
|
|
|
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)
|
rs193302881
|
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
|
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)
|
rs1565689207
|
|
|
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=)
|
rs368398459
|
|
|
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)
|
rs764654621
|
|
|
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)
|
rs534894133
|
|
|
NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)
|
|
|
|
NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)
|
|
|
|
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
|
|
|
|
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)
|
rs1943676569
|
|
|
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)
|
rs1272300904
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>A
|
rs757924969
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>T
|
rs757924969
|
|
|
NM_001164277.2(SLC37A4):c.626+10del
|
|
|
|
NM_001164277.2(SLC37A4):c.626+11A>T
|
rs747150144
|
|
|
NM_001164277.2(SLC37A4):c.626+15A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>A
|
rs74673344
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>C
|
rs74673344
|
|
|
NM_001164277.2(SLC37A4):c.626+30G>A
|
rs1555191200
|
|
|
NM_001164277.2(SLC37A4):c.626+35C>G
|
rs1555191199
|
|
|
NM_001164277.2(SLC37A4):c.626+4A>C
|
rs770644132
|
|
|
NM_001164277.2(SLC37A4):c.626+5G>A
|
rs1943610138
|
|
|
NM_001164277.2(SLC37A4):c.626+6C>T
|
rs762685017
|
|
|
NM_001164277.2(SLC37A4):c.626+7C>T
|
rs1555191207
|
|
|
NM_001164277.2(SLC37A4):c.626+8C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-11C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-12T>C
|
rs1555191134
|
|
|
NM_001164277.2(SLC37A4):c.627-16C>G
|
rs1011663035
|
|
|
NM_001164277.2(SLC37A4):c.627-16C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-20C>T
|
rs1191557410
|
|
|
NM_001164277.2(SLC37A4):c.627-3C>T
|
rs1349289897
|
|
|
NM_001164277.2(SLC37A4):c.627-6C>T
|
rs782514947
|
|
|
NM_001164277.2(SLC37A4):c.627-7C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-8A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.627-9C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)
|
|
|
|
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=)
|
rs2134635379
|
|
|
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del)
|
rs782141145
|
|
|
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del)
|
rs1555191121
|
|
|
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=)
|
rs1257759060
|
|
|
NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)
|
|
|
|
NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)
|
|
|
|
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=)
|
rs1555191117
|
|
|
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)
|
rs782005026
|
|
|
NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)
|
|
|
|
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=)
|
rs1943590147
|
|
|
NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)
|
|
|
|
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=)
|
rs2134644140
|
|
|
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)
|
rs996440530
|
|
|
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)
|
rs1555191105
|
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
|
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)
|
rs1555191101
|
|
|
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
|
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)
|
rs782167890
|
|
|
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=)
|
rs925741468
|
|
|
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)
|
rs782333619
|
|
|
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=)
|
rs782333619
|
|
|
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)
|
|
|
|
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)
|
rs141105181
|
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
|
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=)
|
rs1223570543
|
|
|
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)
|
rs781869215
|
|
|
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
|
rs193302887
|
|
|
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)
|
rs1295327218
|
|
|
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)
|
rs1555191080
|
|
|
NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)
|
|
|
|
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)
|
rs2134644045
|
|
|
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)
|
rs1555191079
|
|
|
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)
|
rs782547500
|
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
|
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)
|
rs1555191077
|
|
|
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)
|
rs1555191076
|
|
|
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)
|
rs193302878
|
|
|
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)
|
rs1345697523
|
|
|
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
|
|
|
|
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)
|
rs782584884
|
|
|
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=)
|
rs782584884
|
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
|
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)
|
rs2134634814
|
|
|
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro)
|
rs1565688326
|
|
|
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)
|
rs1555191060
|
|
|
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=)
|
rs782774153
|
|
|
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)
|
|
|
|
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
|
|
|
|
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)
|
rs1555191054
|
|
|
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=)
|
rs1555191052
|
|
|
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu)
|
rs1565688245
|
|
|
NM_001164277.2(SLC37A4):c.785+15G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.785+19C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.785+2T>G
|
rs1592111559
|
|
|
NM_001164277.2(SLC37A4):c.785+8G>A
|
rs782075266
|
|
|
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)
|
rs782692832
|
|
|
NM_001164277.2(SLC37A4):c.786-17A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.786-18_786-16del
|
rs1555191005
|
|
|
NM_001164277.2(SLC37A4):c.786-1G>A
|
rs1943578039
|
|
|
NM_001164277.2(SLC37A4):c.786-20A>G
|
rs1555191008
|
|
|
NM_001164277.2(SLC37A4):c.786-22_786-13del
|
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>G
|
rs2134633880
|
|
|
NM_001164277.2(SLC37A4):c.786-3_787del
|
rs2134633858
|
|
|
NM_001164277.2(SLC37A4):c.786-6C>T
|
rs2134633894
|
|
|
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=)
|
rs2134633851
|
|
|
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=)
|
rs1943675742
|
|
|
NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)
|
|
|
|
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
|
|
|
|
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=)
|
rs2134633831
|
|
|
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)
|
rs1592111172
|
|
|
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)
|
rs1029013255
|
|
|
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=)
|
rs1468281804
|
|
|
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)
|
rs1555190992
|
|
|
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)
|
|
|
|
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)
|
rs1226267943
|
|
|
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)
|
rs2134633732
|
|
|
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)
|
rs1350014866
|
|
|
NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)
|
|
|
|
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)
|
rs1555190969
|
|
|
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)
|
rs1555190956
|
|
|
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)
|
|
|
|
NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)
|
|
|
|
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)
|
rs1943675245
|
|
|
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=)
|
rs782246067
|
|
|
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)
|
rs1555190944
|
|
|
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)
|
rs1555190938
|
|
|
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=)
|
rs1555190933
|
|
|
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)
|
rs1555190931
|
|
|
NM_001164277.2(SLC37A4):c.871+15G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+17G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>T
|
rs782487764
|
|
|
NM_001164277.2(SLC37A4):c.871+1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+1G>T
|
rs1943574435
|
|
|
NM_001164277.2(SLC37A4):c.871+5G>A
|
rs1250046397
|
|
|
NM_001164277.2(SLC37A4):c.871+6C>G
|
rs377101167
|
|
|
NM_001164277.2(SLC37A4):c.871+7G>C
|
rs782177602
|
|
|
NM_001164277.2(SLC37A4):c.871+8G>C
|
rs2134633461
|
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
|
NM_001164277.2(SLC37A4):c.872-12C>T
|
rs200279011
|
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
|
NM_001164277.2(SLC37A4):c.872-17C>T
|
rs1286218803
|
|
|
NM_001164277.2(SLC37A4):c.872-1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
|
NM_001164277.2(SLC37A4):c.872-4A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.872-4A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.872-7_873dup
|
|
|
|
NM_001164277.2(SLC37A4):c.872-8A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.872-8_881del
|
|
|
|
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)
|
rs200147602
|
|
|
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)
|
rs200147602
|
|
|
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)
|
rs974857648
|
|
|
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)
|
rs1320796917
|
|
|
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)
|
rs1555190769
|
|
|
NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)
|
|
|
|
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=)
|
rs1555190765
|
|
|
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=)
|
rs1171604521
|
|
|
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)
|
rs1555190764
|
|
|
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)
|
rs763008231
|
|
|
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)
|
rs1943560243
|
|
|
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
|
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)
|
rs987244110
|
|
|
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=)
|
rs2134631794
|
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
|
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)
|
rs193302891
|
|
|
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)
|
rs1555190753
|
|
|
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)
|
rs374287329
|
|
|
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=)
|
rs1555190749
|
|
|
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)
|
rs1555190747
|
|
|
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)
|
rs1555190745
|
|
|
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=)
|
rs1555190743
|
|
|
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)
|
rs1555190739
|
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
|
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)
|
rs1335122136
|
|
|
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs)
|
rs2134631556
|
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
|
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)
|
rs1943557200
|
|
|
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)
|
rs1943556915
|
|
|
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)
|
rs1555191854
|
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)
|
rs1555190726
|
|
|
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=)
|
rs782577230
|
|
|
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=)
|
rs782577230
|
|
|
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)
|
rs1555190722
|
|
|
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.945_964del (p.Met315fs)
|
rs1943554287
|
|
|
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)
|
|
|
|
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)
|
rs782703235
|
|
|
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=)
|
rs973616226
|
|
|
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=)
|
rs973616226
|
|
|
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)
|
rs1168556886
|
|
|
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)
|
rs1168556886
|
|
|
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)
|
rs1943554955
|
|
|
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)
|
rs1592109970
|
|
|
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
|
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
|
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
|
|
|
|
NM_001164277.2(SLC37A4):c.985+10A>G
|
rs2134631117
|
|
|
NM_001164277.2(SLC37A4):c.985+15C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.985+18G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.985+196del
|
rs1555190657
|
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
|
NM_001164277.2(SLC37A4):c.985+206C>T
|
rs1555190652
|
|
|
NM_001164277.2(SLC37A4):c.985+20C>T
|
rs1453624071
|
|
|
NM_001164277.2(SLC37A4):c.985+219T>C
|
rs1555190648
|
|
|
NM_001164277.2(SLC37A4):c.985+234C>T
|
rs1555190642
|
|
|
NM_001164277.2(SLC37A4):c.985+238dup
|
rs1555190640
|
|
|
NM_001164277.2(SLC37A4):c.985+241C>G
|
rs1555190639
|
|
|
NM_001164277.2(SLC37A4):c.985+244T>G
|
rs1555190637
|
|
|
NM_001164277.2(SLC37A4):c.985+252C>G
|
rs1173737788
|
|
|
NM_001164277.2(SLC37A4):c.985+259G>A
|
rs1384684015
|
|
|
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT
|
rs1555190633
|
|
|
NM_001164277.2(SLC37A4):c.985+278G>A
|
rs781909226
|
|
|
NM_001164277.2(SLC37A4):c.985+286G>A
|
rs1019246810
|
|
|
NM_001164277.2(SLC37A4):c.985+288T>G
|
rs1555190624
|
|
|
NM_001164277.2(SLC37A4):c.985+3A>G
|
rs782121210
|
|
|
NM_001164277.2(SLC37A4):c.985+9G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)
|
rs1555190563
|
|
|
NM_001164277.2(SLC37A4):c.986-13C>A
|
rs2134628756
|
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
|
NM_001164277.2(SLC37A4):c.986-1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.986-1G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.986-3_989del
|
rs1555190559
|
|
|
NM_001164277.2(SLC37A4):c.986-4G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.986-4del
|
rs1555190566
|
|
|
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)
|
rs1555190553
|
|
|
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)
|
rs1555190553
|
|
|
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)
|
rs782443770
|
|
|
NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)
|
|
|
|
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)
|
rs1555191848
|
|
|
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys)
|
rs1556405057
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
|
NM_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
|
|
|
|
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
|
|
|
|
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
|
|
|
|
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
|
|
|
|
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
|
|
|
|
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
|
|
|
|
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
|
|
|
|
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
|
|
|
|
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
|
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
|
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
|
|
|
|
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
|
|
|
|
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
|
|
|
|
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
|
|
|
|
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
|
|
|
|
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)
|
rs2151019809
|
|
|
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
|
|
|
|
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)
|
rs1261199026
|
|
|
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
|
|
|
|
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
|
|
|
|
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
|
|
|
|
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
|
|
|
|
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
|
|
|
|
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
|
rs2072147536
|
|
|
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
|
|
|
|
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
|
|
|
|
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)
|
rs2151015694
|
|
|
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
|
|
|
|
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
|
|
|
|
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
|
rs549146709
|
|
|
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
|
|
|
|
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
|
|
|
|
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
|
|
|
|
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
|
|
|
|
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
|
|
|
|
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.349_361del (p.Leu117fs)
|
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
|
|
|
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
|
|
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
|
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
|
|
|
|
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
|
|
|
|
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)
|
rs2151016133
|
|
|
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
|
|
|
|
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
|
|
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
|
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
|
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
|
|
|
|
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
|
|
|
|
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
|
|
|
|
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
|
rs2072169825
|
|
|
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
|
|
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
|
|
|
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
|
|
|
|
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
|
|
|
|
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
|
|
|
|
NM_001243177.4(ALDOA):c.548A>G (p.Asp183Gly)
|
rs121909533
|
|
|
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
|
|
|
|
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
|
|
|
|
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
|
|
|
|
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
|
|
|
|
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
|
|
|
|
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
|
|
|
|
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
|
|
|
|
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
|
|
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
|
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
|
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
|
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)
|
rs2151018036
|
|
|
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
|
|
|
|
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
|
|
|
|
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
|
|
|
|
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
|
|
|
|
NM_001243177.4(ALDOA):c.781G>A (p.Glu261Lys)
|
rs121909534
|
|
|
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
|
|
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
|
|
|
|
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
|
|
|
|
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
|
|
|
|
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
|
|
|
|
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
|
|
|
|
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
|
|
|
|
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
|
|
|
|
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
|
|
|
|
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
|
|
|
|
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
|
|
|
|
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
|
|
|
|
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
|
|
|
|
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
|
|
|
|
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
|
|
|
|
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
|
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
|
NM_001271838.2(RSRC1):c.268C>T (p.Arg90Ter)
|
rs1183090232
|
|
|
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
|
|
|
|
NM_001271838.2(RSRC1):c.3G>T (p.Met1Ile)
|
rs1335486803
|
|
|
NM_001271838.2(RSRC1):c.441_447dup (p.Glu150fs)
|
rs2108279740
|
|
|
NM_001271838.2(RSRC1):c.532-1G>A
|
rs754550509
|
|
|
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
|
rs140892695
|
|
|
NM_001352514.2(HLCS):c.*1206C>A
|
rs73902720
|
|
|
NM_001352514.2(HLCS):c.*1589CAAA[2]
|
rs201997019
|
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
|
NM_001352514.2(HLCS):c.*2622G>A
|
rs14407
|
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
|
NM_001352514.2(HLCS):c.*7_*9del
|
rs201681436
|
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
|
NM_001352514.2(HLCS):c.1011G>A (p.Val337=)
|
|
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
|
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.1041del (p.Leu348fs)
|
|
|
|
NM_001352514.2(HLCS):c.1044G>A (p.Leu348=)
|
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
|
NM_001352514.2(HLCS):c.1059C>G (p.Leu353=)
|
rs765699943
|
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
|
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.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
|
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.1148A>G (p.Tyr383Cys)
|
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
|
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.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
|
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.1219_1222dup (p.Gly408fs)
|
|
|
|
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)
|
rs771944310
|
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
|
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.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
|
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.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1284G>A (p.Lys428=)
|
|
|
|
NM_001352514.2(HLCS):c.1287C>T (p.Leu429=)
|
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
|
NM_001352514.2(HLCS):c.1302T>C (p.Ser434=)
|
rs2146524204
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
|
NM_001352514.2(HLCS):c.1314C>T (p.Tyr438=)
|
rs2066890502
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
|
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.1326del (p.Val443fs)
|
|
|
|
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.1351C>T (p.Gln451Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1356C>T (p.Gly452=)
|
rs756934917
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
|
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.1404del (p.Phe468fs)
|
|
|
|
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>C (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.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
|
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.1466_1472delinsGCA (p.Asn489fs)
|
|
|
|
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.1524C>G (p.Tyr508Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
|
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.1550_1551insT (p.Leu518fs)
|
|
|
|
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.1610C>A (p.Ser537Ter)
|
|
|
|
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
|
|
|
|
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+1G>A
|
rs1555951858
|
|
|
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.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
|
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.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
|
|
|
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.1752_1759delinsTTT (p.Pro585fs)
|
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
|
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.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
|
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.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
|
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
|
rs973578825
|
|
|
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.1858_1868del (p.Glu620fs)
|
|
|
|
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.1902_1903del (p.Phe634fs)
|
|
|
|
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.1942del (p.Arg648fs)
|
|
|
|
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.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
|
NM_001352514.2(HLCS):c.1960+117A>T
|
rs2835455
|
|
|
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.1961-2A>G
|
|
|
|
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.1974T>A (p.Asn658Lys)
|
|
|
|
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.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
|
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.2092del (p.Glu698fs)
|
|
|
|
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.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
|
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.2185G>A (p.Gly729Arg)
|
|
|
|
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.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
|
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.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
|
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.2341G>T (p.Asp781Tyr)
|
|
|
|
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+136C>T
|
rs9977769
|
|
|
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+2T>A
|
|
|
|
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.2567del (p.Pro856fs)
|
rs1555880930
|
|
|
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.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
|
NM_001352514.2(HLCS):c.2601C>T (p.Leu867=)
|
|
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
|
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.331-1G>C
|
|
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
|
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.476dup (p.Pro160fs)
|
|
|
|
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.493+9C>A
|
rs886057078
|
|
|
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.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
|
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.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
|
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.616del (p.Glu206fs)
|
|
|
|
NM_001352514.2(HLCS):c.633T>C (p.Asp211=)
|
|
|
|
NM_001352514.2(HLCS):c.636C>T (p.Asp212=)
|
|
|
|
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
|
|
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.687del (p.Ser230fs)
|
|
|
|
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>A (p.Cys253Ter)
|
|
|
|
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.767G>T (p.Cys256Phe)
|
rs2066926744
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
|
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.794_795del (p.Glu265fs)
|
|
|
|
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.821_822insTTCCATTG (p.Ile275fs)
|
|
|
|
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.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
|
NM_001352514.2(HLCS):c.846T>C (p.Tyr282=)
|
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
|
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.886G>T (p.Glu296Ter)
|
rs760029192
|
|
|
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.929del (p.Asn310fs)
|
|
|
|
NM_001352514.2(HLCS):c.933C>T (p.Ile311=)
|
rs1057523220
|
|
|
NM_001352514.2(HLCS):c.939C>G (p.Leu313=)
|
|
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
|
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.958dup (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.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
|
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_001354735.1(PFKM):c.53G>T (p.Arg18Leu)
|
rs193298317
|
|
|
NM_001354741.2(PFKM):c.-81+1966C>T
|
|
|
|
NM_001354768.3(NRL):c.-28+11215dup
|
rs61497654
|
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
|
NM_001358263.1(HK1):c.-290G>C
|
rs797044964
|
|
|
NM_001358263.1(HK1):c.1A>G (p.Met1Val)
|
rs1589439508
|
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
|
NM_001358263.1(HK1):c.75+23T>C
|
rs4746837
|
|
|
NM_001360016.2(G6PD):c.*272G>A
|
|
|
|
NM_001360016.2(G6PD):c.*304T>C
|
|
|
|
NM_001360016.2(G6PD):c.*357G>A
|
|
|
|
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
|
|
|
|
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
|
|
|
|
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
|
|
|
|
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
|
|
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
|
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
|
|
|
|
NM_001360016.2(G6PD):c.1051+11C>T
|
rs1258960910
|
|
|
NM_001360016.2(G6PD):c.1051+15C>A
|
rs2070358006
|
|
|
NM_001360016.2(G6PD):c.1052-16C>A
|
|
|
|
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
|
|
|
|
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=)
|
rs782533137
|
|
|
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
|
|
|
|
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
|
|
|
|
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
|
|
|
|
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
|
|
|
|
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
|
|
|
|
NM_001360016.2(G6PD):c.107T>C (p.Ile36Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
|
|
|
|
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)
|
rs1557229736
|
|
|
NM_001360016.2(G6PD):c.1089C>G (p.Asn363Lys)
|
rs137852329
|
|
|
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
|
|
|
|
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)
|
rs1057518975
|
|
|
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=)
|
rs2070354836
|
|
|
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)
|
rs1421656710
|
|
|
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
|
|
|
|
NM_001360016.2(G6PD):c.1118T>C (p.Phe373Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
|
|
|
|
NM_001360016.2(G6PD):c.1138A>G (p.Ile380Val)
|
|
|
|
NM_001360016.2(G6PD):c.1139T>C (p.Ile380Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
|
|
|
|
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)
|
rs2148328905
|
|
|
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
|
|
|
|
NM_001360016.2(G6PD):c.1153T>G (p.Cys385Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
|
|
|
|
NM_001360016.2(G6PD):c.1155C>G (p.Cys385Trp)
|
|
|
|
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1177C>G (p.Arg393Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
|
NM_001360016.2(G6PD):c.1182G>A (p.Val394=)
|
rs2148328863
|
|
|
NM_001360016.2(G6PD):c.1183C>T (p.Gln395Ter)
|
|
|
|
NM_001360016.2(G6PD):c.1186C>G (p.Pro396Ala)
|
rs2148328852
|
|
|
NM_001360016.2(G6PD):c.1187C>G (p.Pro396Arg)
|
rs1557229683
|
|
|
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
|
rs1557229683
|
|
|
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)
|
rs137852325
|
|
|
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
|
|
|
|
NM_001360016.2(G6PD):c.120+13C>G
|
|
|
|
NM_001360016.2(G6PD):c.120+14A>T
|
|
|
|
NM_001360016.2(G6PD):c.120+199dup
|
rs781893284
|
|
|
NM_001360016.2(G6PD):c.120+2955A>G
|
|
|
|
NM_001360016.2(G6PD):c.120+3126T>C
|
|
|
|
NM_001360016.2(G6PD):c.120+7A>G
|
rs369904290
|
|
|
NM_001360016.2(G6PD):c.120+9C>T
|
rs886044853
|
|
|
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=)
|
rs2148328821
|
|
|
NM_001360016.2(G6PD):c.1205C>A (p.Thr402Asn)
|
|
|
|
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
|
|
|
|
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=)
|
rs1355739430
|
|
|
NM_001360016.2(G6PD):c.121-1792T>C
|
|
|
|
NM_001360016.2(G6PD):c.121-1813del
|
|
|
|
NM_001360016.2(G6PD):c.121-19C>A
|
|
|
|
NM_001360016.2(G6PD):c.121-2107T>C
|
|
|
|
NM_001360016.2(G6PD):c.121-2679C>G
|
|
|
|
NM_001360016.2(G6PD):c.121-4460del
|
|
|
|
NM_001360016.2(G6PD):c.121-4A>C
|
|
|
|
NM_001360016.2(G6PD):c.121-5C>T
|
|
|
|
NM_001360016.2(G6PD):c.1215G>A (p.Met405Ile)
|
|
|
|
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
|
|
|
|
NM_001360016.2(G6PD):c.1220A>C (p.Lys407Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1225C>T (p.Pro409Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1226C>A (p.Pro409Gln)
|
|
|
|
NM_001360016.2(G6PD):c.1226C>G (p.Pro409Arg)
|
|
|
|
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=)
|
rs781879876
|
|
|
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
|
|
|
|
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)
|
rs1603411292
|
|
|
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)
|
|
|
|
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=)
|
rs2148328776
|
|
|
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=)
|
rs2148328772
|
|
|
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=)
|
rs2148328766
|
|
|
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
|
NM_001360016.2(G6PD):c.1283dup (p.Tyr428Ter)
|
|
|
|
NM_001360016.2(G6PD):c.1284C>A (p.Tyr428Ter)
|
|
|
|
NM_001360016.2(G6PD):c.1285A>G (p.Lys429Glu)
|
|
|
|
NM_001360016.2(G6PD):c.1287+7T>C
|
|
|
|
NM_001360016.2(G6PD):c.1288-11C>T
|
|
|
|
NM_001360016.2(G6PD):c.1288-12T>A
|
rs2148328659
|
|
|
NM_001360016.2(G6PD):c.1288-13C>G
|
|
|
|
NM_001360016.2(G6PD):c.1288-14T>A
|
|
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
|
NM_001360016.2(G6PD):c.1288-15C>T
|
|
|
|
NM_001360016.2(G6PD):c.1288-16A>C
|
|
|
|
NM_001360016.2(G6PD):c.1288-17C>G
|
|
|
|
NM_001360016.2(G6PD):c.1288-2A>T
|
|
|
|
NM_001360016.2(G6PD):c.1288-4A>G
|
|
|
|
NM_001360016.2(G6PD):c.1288-5C>T
|
|
|
|
NM_001360016.2(G6PD):c.1288-8C>A
|
rs2148328644
|
|
|
NM_001360016.2(G6PD):c.1288-8C>T
|
rs2148328644
|
|
|
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
|
|
|
|
NM_001360016.2(G6PD):c.1292T>G (p.Val431Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
|
|
|
|
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
|
|
|
|
NM_001360016.2(G6PD):c.130G>A (p.Ala44Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
|
NM_001360016.2(G6PD):c.1311T>C (p.Tyr437=)
|
rs2230037
|
|
|
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys)
|
rs2148328604
|
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
|
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
|
|
|
|
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
|
|
|
|
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
|
|
|
|
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
|
|
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
|
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
|
|
|
|
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=)
|
rs2148328562
|
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
|
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
|
|
|
|
NM_001360016.2(G6PD):c.1354_1358del (p.Phe452fs)
|
|
|
|
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
|
|
|
|
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)
|
rs137852324
|
|
|
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
|
|
|
|
NM_001360016.2(G6PD):c.1364+10A>G
|
|
|
|
NM_001360016.2(G6PD):c.1364+15C>T
|
rs2148328536
|
|
|
NM_001360016.2(G6PD):c.1364+16C>T
|
|
|
|
NM_001360016.2(G6PD):c.1364+17G>A
|
|
|
|
NM_001360016.2(G6PD):c.1364+18G>A
|
|
|
|
NM_001360016.2(G6PD):c.1365-19C>T
|
|
|
|
NM_001360016.2(G6PD):c.1365-5C>T
|
rs886044905
|
|
|
NM_001360016.2(G6PD):c.1365-8C>A
|
|
|
|
NM_001360016.2(G6PD):c.1365-8C>T
|
|
|
|
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
|
|
|
|
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
|
|
|
|
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
|
|
|
|
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
|
|
|
|
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
|
|
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
|
NM_001360016.2(G6PD):c.1376del (p.Arg459fs)
|
rs2070346743
|
|
|
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)
|
rs1603411214
|
|
|
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
|
|
|
|
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
|
|
|
|
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
|
|
|
|
NM_001360016.2(G6PD):c.1388G>T (p.Arg463Leu)
|
|
|
|
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
|
|
|
|
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=)
|
rs398123547
|
|
|
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
|
|
|
|
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
|
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
|
NM_001360016.2(G6PD):c.1422G>A (p.Leu474=)
|
|
|
|
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=)
|
rs2148328378
|
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
|
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
|
|
|
|
NM_001360016.2(G6PD):c.1457+10G>A
|
rs2148328331
|
|
|
NM_001360016.2(G6PD):c.1457+11G>C
|
|
|
|
NM_001360016.2(G6PD):c.1457+11G>T
|
|
|
|
NM_001360016.2(G6PD):c.1457+12G>A
|
|
|
|
NM_001360016.2(G6PD):c.1457+14G>T
|
|
|
|
NM_001360016.2(G6PD):c.1457+15G>A
|
|
|
|
NM_001360016.2(G6PD):c.1457+17G>A
|
|
|
|
NM_001360016.2(G6PD):c.1457+37_1458-10dup
|
|
|
|
NM_001360016.2(G6PD):c.1457+7_1458-43del
|
|
|
|
NM_001360016.2(G6PD):c.1457+9A>T
|
|
|
|
NM_001360016.2(G6PD):c.1458-13C>T
|
rs371772243
|
|
|
NM_001360016.2(G6PD):c.1458-7T>A
|
|
|
|
NM_001360016.2(G6PD):c.1458-7T>C
|
|
|
|
NM_001360016.2(G6PD):c.1463G>T (p.Gly488Val)
|
|
|
|
NM_001360016.2(G6PD):c.1465C>T (p.Pro489Ser)
|
rs1603411177
|
|
|
NM_001360016.2(G6PD):c.1466C>T (p.Pro489Leu)
|
|
|
|
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=)
|
rs2148328181
|
|
|
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
|
|
|
|
NM_001360016.2(G6PD):c.1478_1479insAGGAGGCAGA (p.Asp493fs)
|
|
|
|
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
|
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
|
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
|
|
|
|
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
|
|
|
|
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
|
|
|
|
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
|
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
|
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
|
|
|
|
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
|
|
|
|
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
|
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|
NM_001360016.2(G6PD):c.158+16C>T
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|
NM_001360016.2(G6PD):c.158+17A>G
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NM_001360016.2(G6PD):c.159-11C>T
|
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NM_001360016.2(G6PD):c.159-16T>C
|
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NM_001360016.2(G6PD):c.159-17C>T
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NM_001360016.2(G6PD):c.159-3C>T
|
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NM_001360016.2(G6PD):c.159-8G>T
|
rs2148331979
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NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
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NM_001360016.2(G6PD):c.168C>T (p.Phe56=)
|
rs2148331964
|
|
|
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
|
|
|
|
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
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NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
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|
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NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
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NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
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NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
|
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|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
|
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
|
rs2070404146
|
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NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
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NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
|
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NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
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NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
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NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
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NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
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|
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NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
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NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
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NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)
|
rs2148331887
|
|
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NM_001360016.2(G6PD):c.235G>C (p.Asp79His)
|
rs2148331875
|
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NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
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NM_001360016.2(G6PD):c.241C>T (p.Arg81Cys)
|
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NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
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NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
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NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
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NM_001360016.2(G6PD):c.268-12C>T
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NM_001360016.2(G6PD):c.268-13C>T
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NM_001360016.2(G6PD):c.268-24TGTC[2]
|
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NM_001360016.2(G6PD):c.268-6T>C
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NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
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NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
|
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|
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
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NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
|
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NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
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|
NM_001360016.2(G6PD):c.283_285del (p.Lys95del)
|
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NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
|
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NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
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NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser)
|
rs886044847
|
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NM_001360016.2(G6PD):c.30C>A (p.Thr10=)
|
rs982197712
|
|
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NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
|
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|
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
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NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
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NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
|
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NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
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|
NM_001360016.2(G6PD):c.318C>T (p.Ser106=)
|
rs2148331419
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NM_001360016.2(G6PD):c.31C>T (p.Gln11Ter)
|
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|
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=)
|
rs2148331412
|
|
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NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
|
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|
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
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NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
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NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
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NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
|
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NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
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NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
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NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
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NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)
|
rs2148331380
|
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NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
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|
NM_001360016.2(G6PD):c.359G>A (p.Arg120His)
|
rs782820967
|
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NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)
|
rs782820967
|
|
|
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
|
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
|
NM_001360016.2(G6PD):c.384C>T (p.Leu128=)
|
rs2148331335
|
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NM_001360016.2(G6PD):c.404A>C (p.Asn135Thr)
|
rs782322505
|
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
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|
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
|
|
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|
NM_001360016.2(G6PD):c.414C>T (p.Phe138=)
|
rs2148331303
|
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|
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
|
|
|
|
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
|
|
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|
NM_001360016.2(G6PD):c.423C>G (p.Ala141=)
|
rs782627357
|
|
|
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
|
|
|
|
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
|
|
|
|
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
|
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
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NM_001360016.2(G6PD):c.465C>T (p.His155=)
|
|
|
|
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
|
|
|
|
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
|
|
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|
NM_001360016.2(G6PD):c.485+12C>T
|
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|
NM_001360016.2(G6PD):c.485+14T>C
|
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NM_001360016.2(G6PD):c.485+15T>A
|
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NM_001360016.2(G6PD):c.485+17C>T
|
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|
NM_001360016.2(G6PD):c.485+184del
|
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NM_001360016.2(G6PD):c.485+3A>G
|
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|
NM_001360016.2(G6PD):c.486-10C>T
|
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|
NM_001360016.2(G6PD):c.486-17C>T
|
|
|
|
NM_001360016.2(G6PD):c.486-17del
|
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
|
NM_001360016.2(G6PD):c.486-6C>T
|
|
|
|
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
|
|
|
|
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
|
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
|
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
|
|
|
|
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
|
|
|
|
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
|
|
|
|
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
|
|
|
|
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
|
|
|
|
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
|
|
|
|
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
|
|
|
|
NM_001360016.2(G6PD):c.519C>G (p.Phe173Leu)
|
|
|
|
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
|
|
|
|
NM_001360016.2(G6PD):c.536G>A (p.Ser179Asn)
|
|
|
|
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
|
|
|
|
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
|
|
|
|
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
|
|
|
|
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
|
|
|
|
NM_001360016.2(G6PD):c.558C>T (p.His186=)
|
|
|
|
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
|
|
|
|
NM_001360016.2(G6PD):c.562TCC[1] (p.Ser189del)
|
|
|
|
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
|
|
|
|
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
|
|
|
|
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
|
|
|
|
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
|
|
|
|
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
|
|
|
|
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
|
|
|
|
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
|
|
|
|
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
|
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
|
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
|
|
|
|
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
|
|
|
|
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
|
|
|
|
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
|
rs2148330566
|
|
|
NM_001360016.2(G6PD):c.633C>G (p.Leu211=)
|
rs781866029
|
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
|
NM_001360016.2(G6PD):c.644+10A>G
|
|
|
|
NM_001360016.2(G6PD):c.644+19C>T
|
|
|
|
NM_001360016.2(G6PD):c.644+6G>A
|
|
|
|
NM_001360016.2(G6PD):c.644+7C>T
|
|
|
|
NM_001360016.2(G6PD):c.644+9A>C
|
rs1279844136
|
|
|
NM_001360016.2(G6PD):c.645-10C>G
|
|
|
|
NM_001360016.2(G6PD):c.645-14G>T
|
|
|
|
NM_001360016.2(G6PD):c.645-3C>T
|
|
|
|
NM_001360016.2(G6PD):c.645-8_645-5del
|
rs782160396
|
|
|
NM_001360016.2(G6PD):c.645-9T>C
|
rs2148330346
|
|
|
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
|
|
|
|
NM_001360016.2(G6PD):c.672C>T (p.Ile224=)
|
rs2148330315
|
|
|
NM_001360016.2(G6PD):c.679C>T (p.Arg227Trp)
|
|
|
|
NM_001360016.2(G6PD):c.680G>T (p.Arg227Leu)
|
rs137852328
|
|
|
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
|
|
|
|
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
|
|
|
|
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
|
|
|
|
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
|
|
|
|
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
|
|
|
|
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
|
|
|
|
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
|
|
|
|
NM_001360016.2(G6PD):c.713A>G (p.Lys238Arg)
|
|
|
|
NM_001360016.2(G6PD):c.720C>T (p.Pro240=)
|
rs2148330281
|
|
|
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
|
|
|
|
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)
|
rs1557233192
|
|
|
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
|
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
|
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
|
|
|
|
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
|
|
|
|
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
|
|
|
|
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
|
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
|
NM_001360016.2(G6PD):c.770+12T>C
|
|
|
|
NM_001360016.2(G6PD):c.770+8C>T
|
|
|
|
NM_001360016.2(G6PD):c.770G>A (p.Arg257Gln)
|
|
|
|
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
|
|
|
|
NM_001360016.2(G6PD):c.771-13C>A
|
|
|
|
NM_001360016.2(G6PD):c.771-13C>T
|
|
|
|
NM_001360016.2(G6PD):c.771-20C>G
|
|
|
|
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
|
|
|
|
NM_001360016.2(G6PD):c.786C>T (p.Asn262=)
|
rs1179691681
|
|
|
NM_001360016.2(G6PD):c.78C>T (p.Phe26=)
|
rs1487624588
|
|
|
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
|
|
|
|
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
|
|
|
|
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
|
|
|
|
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
|
|
|
|
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
|
|
|
|
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
|
|
|
|
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
|
|
|
|
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
|
|
|
|
NM_001360016.2(G6PD):c.827C>T (p.Pro276Leu)
|
|
|
|
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
|
|
|
|
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)
|
rs1557230050
|
|
|
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
|
|
|
|
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
|
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
|
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
|
|
|
|
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
|
|
|
|
NM_001360016.2(G6PD):c.848A>G (p.Asp283Gly)
|
|
|
|
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
|
|
|
|
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
|
|
|
|
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
|
|
|
|
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
|
|
|
|
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)
|
rs2148329856
|
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
|
NM_001360016.2(G6PD):c.864+10G>T
|
rs2070368182
|
|
|
NM_001360016.2(G6PD):c.864+13C>T
|
|
|
|
NM_001360016.2(G6PD):c.864+16C>G
|
|
|
|
NM_001360016.2(G6PD):c.864+17A>G
|
|
|
|
NM_001360016.2(G6PD):c.864+43G>A
|
|
|
|
NM_001360016.2(G6PD):c.864+44del
|
|
|
|
NM_001360016.2(G6PD):c.864+7G>A
|
rs782256985
|
|
|
NM_001360016.2(G6PD):c.864+8dup
|
rs782714017
|
|
|
NM_001360016.2(G6PD):c.865-18C>T
|
|
|
|
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
|
|
|
|
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
|
|
|
|
NM_001360016.2(G6PD):c.882del (p.Lys293_Cys294insTer)
|
|
|
|
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
|
|
|
|
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)
|
rs367607992
|
|
|
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
|
|
|
|
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
|
|
|
|
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
|
|
|
|
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
|
|
|
|
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
|
|
|
|
NM_001360016.2(G6PD):c.916G>A (p.Gly306Ser)
|
|
|
|
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
|
|
|
|
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
|
|
|
|
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
|
|
|
|
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
|
|
|
|
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
|
|
|
|
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)
|
rs2148329357
|
|
|
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
|
|
|
|
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
|
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
|
NM_001360016.2(G6PD):c.969G>A (p.Leu323=)
|
rs2148329332
|
|
|
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
|
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
|
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
|
|
|
|
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
|
|
|
|
NM_001360016.2(G6PD):c.997ACC[1] (p.Thr334del)
|
|
|
|
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
|
|
|
|
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[1106T>C;499A>T]
|
|
|
|
NM_001360016.2(G6PD):c.[1116G>A;1311=]
|
|
|
|
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
|
|
|
|
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
|
|
|
|
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
|
|
|
|
NM_001360016.2(G6PD):c.[143T>C;202G>A]
|
|
|
|
NM_001360016.2(G6PD):c.[143T>C;563C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[202G>A;563C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[202G>A;871G>A]
|
|
|
|
NM_001360016.2(G6PD):c.[311G>A;376A>G]
|
|
|
|
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;463C>G]
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;563C>T]
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;680G>T]
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;871G>A]
|
|
|
|
NM_001360016.2(G6PD):c.[376A>G;968T>C]
|
|
|
|
NM_001360016.2(G6PD):c.[769C>A;770G>T]
|
|
|
|
NM_001363700.2(LIAS):c.299+1682_299+1690del
|
rs776064587
|
|
|
NM_001365304.2(LOC112694756):c.*1049+12G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*1049+17T>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*1049+20A>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*1049+3G>A
|
rs2072219927
|
|
|
NM_001365304.2(LOC112694756):c.*1049+7C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1049+8T>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*1050-10C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1050-12C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1050-7C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1050-9G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*1133+11A>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*1134-12G>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*1134-17C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*1134-4C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1308+15C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1308+17T>C
|
rs566755208
|
|
|
NM_001365304.2(LOC112694756):c.*1309-2dup
|
|
|
|
NM_001365304.2(LOC112694756):c.*1309-7T>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*1309-8C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9A>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1508+9_*1508+19dup
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-11T>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-14C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-16C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-17C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*1509-18A>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*622-11G>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*622-15A>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*622-3del
|
|
|
|
NM_001365304.2(LOC112694756):c.*622-9C>G
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+10G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+16C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+17C>G
|
rs78209292
|
|
|
NM_001365304.2(LOC112694756):c.*833+17C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+18G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+19G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*833+9A>C
|
|
|
|
NM_001365304.2(LOC112694756):c.*834-14C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*834-19G>A
|
|
|
|
NM_001365304.2(LOC112694756):c.*888+17del
|
rs886051891
|
|
|
NM_001365304.2(LOC112694756):c.*888+8C>T
|
|
|
|
NM_001365304.2(LOC112694756):c.*889-3T>C
|
|
|
|
NM_001366110.1(PAX4):c.*469TATG[3]
|
rs66998513
|
|
|
NM_001366110.1(PAX4):c.*474_*477dup
|
rs1554403669
|
|
|
NM_001366110.1(PAX4):c.*477_*478insATGT
|
rs200757052
|
|
|
NM_001366110.1(PAX4):c.*488GC[4]
|
rs61297182
|
|
|
NM_001366110.1(PAX4):c.*492_*497del
|
rs886061966
|
|
|
NM_001366110.1(PAX4):c.*493_*494insGCAC
|
rs375106423
|
|
|
NM_001366110.1(PAX4):c.*494AC[11]
|
rs36159526
|
|
|
NM_001366110.1(PAX4):c.*494AC[13]
|
rs36159526
|
|
|
NM_001366110.1(PAX4):c.*494AC[14]
|
rs36159526
|
|
|
NM_001366110.1(PAX4):c.*514_*521delinsTGAT
|
rs886061965
|
|
|
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT
|
rs886061964
|
|
|
NM_001366110.1(PAX4):c.*667AT[1]
|
rs59241875
|
|
|
NM_001366110.1(PAX4):c.*66C>T
|
rs886061967
|
|
|
NM_001366110.1(PAX4):c.*722T>C
|
rs759186282
|
|
|
NM_001366110.1(PAX4):c.-101_-100+2del
|
|
|
|
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)
|
rs115887120
|
|
|
NM_001366110.1(PAX4):c.13+175G>C
|
rs327516
|
|
|
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)
|
rs112061448
|
|
|
NM_001366110.1(PAX4):c.225C>G (p.Ser75Arg)
|
|
|
|
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu)
|
rs886061969
|
|
|
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)
|
|
|
|
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)
|
rs1554404073
|
|
|
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)
|
|
|
|
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser)
|
rs3824004
|
|
|
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)
|
|
|
|
NM_001366110.1(PAX4):c.772-13dup
|
rs35434068
|
|
|
NM_001366110.1(PAX4):c.772-3del
|
rs35434068
|
|
|
NM_001366110.1(PAX4):c.779dup (p.Gly261fs)
|
rs536677108
|
|
|
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)
|
rs886061968
|
|
|
NM_001367225.1(CA5A):c.899A>G (p.His300Arg)
|
|
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
|
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+1G>A
|
rs1057516440
|
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
|
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.-17_-17+3del
|
rs1050514843
|
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
|
NM_001370658.1(BTD):c.-18del
|
rs2064260290
|
|
|
NM_001370658.1(BTD):c.-1T>C
|
|
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
|
NM_001370658.1(BTD):c.-28C>T
|
rs2125312689
|
|
|
NM_001370658.1(BTD):c.-45A>T
|
rs540641302
|
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
|
NM_001370658.1(BTD):c.1008A>T (p.Pro336=)
|
|
|
|
NM_001370658.1(BTD):c.1021T>G (p.Phe341Val)
|
rs1204990361
|
|
|
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.1030dup (p.Ile344fs)
|
|
|
|
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.1066C>T (p.Gln356Ter)
|
rs760612966
|
|
|
NM_001370658.1(BTD):c.1068G>A (p.Gln356=)
|
rs891263072
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
|
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.1103dup (p.Asn369fs)
|
rs2125504069
|
|
|
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.1110TCC[1] (p.Pro372del)
|
|
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
|
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.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
|
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.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
|
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.1204dup (p.Leu402fs)
|
rs397514411
|
|
|
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.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
|
NM_001370658.1(BTD):c.1248G>A (p.Glu416=)
|
rs1208591351
|
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
|
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.1259T>C (p.Leu420Pro)
|
rs1575031012
|
|
|
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.1264del (p.Val422fs)
|
rs1057517362
|
|
|
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.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
|
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.1312dup (p.Cys438fs)
|
rs587783007
|
|
|
NM_001370658.1(BTD):c.1314T>C (p.Cys438=)
|
|
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
|
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp)
|
rs397514436
|
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
|
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.1352G>T (p.Cys451Phe)
|
|
|
|
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.1386dup (p.Glu463Ter)
|
|
|
|
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.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
|
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.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
|
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)
|
rs397514425
|
|
|
NM_001370658.1(BTD):c.1434G>A (p.Leu478=)
|
|
|
|
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs)
|
rs398123138
|
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
|
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
|
|
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
|
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
|
NM_001370658.1(BTD):c.1479C>G (p.Gly493=)
|
|
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
|
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.1503del (p.Arg502fs)
|
rs1163419871
|
|
|
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.1541C>T (p.Ala514Val)
|
rs1210441433
|
|
|
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.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
|
NM_001370658.1(BTD):c.177C>G (p.Arg59=)
|
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
|
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.195C>T (p.Leu65=)
|
rs2125454784
|
|
|
NM_001370658.1(BTD):c.202C>T (p.Gln68Ter)
|
rs151071780
|
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
|
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.220G>T (p.Glu74Ter)
|
|
|
|
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.239C>T (p.Ala80Val)
|
rs1553652171
|
|
|
NM_001370658.1(BTD):c.249+19A>C
|
|
|
|
NM_001370658.1(BTD):c.249+1G>A
|
rs373249212
|
|
|
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.250-1G>T
|
rs1553653053
|
|
|
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.270del (p.Pro91fs)
|
|
|
|
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.304A>G (p.Arg102Gly)
|
rs397514354
|
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
|
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.346del (p.Gln116fs)
|
rs1404904752
|
|
|
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.395C>G (p.Thr132Arg)
|
rs587783003
|
|
|
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.406C>T (p.Gln136Ter)
|
rs397514362
|
|
|
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.424G>C (p.Ala142Pro)
|
rs2125500236
|
|
|
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.44_45del (p.Cys15fs)
|
rs750965140
|
|
|
NM_001370658.1(BTD):c.456T>C (p.Asn152=)
|
|
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
|
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.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
|
NM_001370658.1(BTD):c.500del (p.Pro167fs)
|
rs2125500629
|
|
|
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.528_542del (p.Val178_Asn182del)
|
rs1575029290
|
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
|
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.557T>G (p.Leu186Arg)
|
|
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
|
NM_001370658.1(BTD):c.558T>A (p.Leu186=)
|
|
|
|
NM_001370658.1(BTD):c.564C>T (p.Asp188=)
|
|
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
|
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.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
|
NM_001370658.1(BTD):c.58C>T (p.Leu20=)
|
|
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
|
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.623A>G (p.Asp208Gly)
|
rs587783004
|
|
|
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.675C>A (p.Cys225Ter)
|
|
|
|
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.705C>G (p.Ile235Met)
|
rs1575029719
|
|
|
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.721_723del (p.Tyr241del)
|
rs1553653835
|
|
|
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.755G>A (p.Trp252Ter)
|
rs148031701
|
|
|
NM_001370658.1(BTD):c.762C>T (p.Asn254=)
|
rs2065642615
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
|
NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)
|
rs397514336
|
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
|
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.798del (p.Ala267fs)
|
rs1575029897
|
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
|
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.838A>C (p.Asn280His)
|
rs587783006
|
|
|
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.862A>C (p.Met288Leu)
|
rs757604137
|
|
|
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.874G>A (p.Gly292Ser)
|
rs397514396
|
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
|
NM_001370658.1(BTD):c.876C>A (p.Gly292=)
|
|
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
|
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.920dup (p.Asn307fs)
|
|
|
|
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_001543.5(NDST1):c.1846+23G>C
|
rs2304063
|
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
|
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp)
|
rs606231457
|
|
|
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
|
|
|
|
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln)
|
rs606231456
|
|
|
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
|
|
|
|
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)
|
rs760333260
|
|
|
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala)
|
rs1755738807
|
|
|
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
|
|
|
|
NM_001543.5(NDST1):c.340G>T (p.Glu114Ter)
|
rs1085307082
|
|
|
NM_001543.5(NDST1):c.39C>G (p.His13Gln)
|
rs777877507
|
|
|
NM_001543.5(NDST1):c.750A>G (p.Pro250=)
|
rs2273234
|
|
|
NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)
|
|
|
|
NM_001715.2(BLK):c.*500G>T
|
rs767723868
|
|
|
NM_001715.2(BLK):c.-440G>A
|
rs554033678
|
|
|
NM_001715.2(BLK):c.-475A>C
|
rs886062589
|
|
|
NM_001715.3(BLK):c.*130G>T
|
rs576749814
|
|
|
NM_001715.3(BLK):c.*161C>G
|
rs886062597
|
|
|
NM_001715.3(BLK):c.*182del
|
rs570307048
|
|
|
NM_001715.3(BLK):c.*214C>T
|
rs1585428580
|
|
|
NM_001715.3(BLK):c.*271G>A
|
rs1343284509
|
|
|
NM_001715.3(BLK):c.*289G>A
|
rs886062599
|
|
|
NM_001715.3(BLK):c.*42A>G
|
rs759997593
|
|
|
NM_001715.3(BLK):c.-9T>C
|
rs886062594
|
|
|
NM_001715.3(BLK):c.1021T>G (p.Ser341Ala)
|
rs567720261
|
|
|
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)
|
rs886062595
|
|
|
NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)
|
|
|
|
NM_001715.3(BLK):c.1208C>T (p.Ala403Val)
|
rs139210041
|
|
|
NM_001715.3(BLK):c.129C>A (p.Val43=)
|
rs377568491
|
|
|
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
|
|
|
|
NM_001715.3(BLK):c.1374C>T (p.Asp458=)
|
rs376977643
|
|
|
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
|
|
|
|
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)
|
rs1171913284
|
|
|
NM_001715.3(BLK):c.269+13G>C
|
rs144839649
|
|
|
NM_001715.3(BLK):c.311G>T (p.Arg104Ile)
|
rs142298864
|
|
|
NM_001715.3(BLK):c.391C>A (p.Arg131=)
|
rs73663163
|
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
|
NM_001715.3(BLK):c.473-7C>G
|
rs200091252
|
|
|
NM_001715.3(BLK):c.591G>T (p.Ser197=)
|
rs140834602
|
|
|
NM_001715.3(BLK):c.617C>G (p.Ser206Cys)
|
rs550720173
|
|
|
NM_001715.3(BLK):c.668C>T (p.Pro223Leu)
|
rs202028021
|
|
|
NM_001715.3(BLK):c.772+17G>A
|
|
|
|
NM_001715.3(BLK):c.824C>T (p.Thr275Ile)
|
rs748444664
|
|
|
NM_001715.3(BLK):c.84C>A (p.Val28=)
|
rs1585387563
|
|
|
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
|
|
|
|
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
|
|
|
|
NM_001715.3(BLK):c.952G>A (p.Gly318Arg)
|
|
|
|
NM_001715.3(BLK):c.956G>T (p.Cys319Phe)
|
rs1563123027
|
|
|
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.580C>T (p.Gln194Ter)
|
rs2055884613
|
|
|
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.618+1G>T
|
|
|
|
NM_001739.2(CA5A):c.619-3421_774+502del
|
|
|
|
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.83T>A (p.Met28Lys)
|
|
|
|
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_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
|
|
|
|
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)
|
|
|
|
NM_001807.6(CEL):c.1659C>G (p.Thr553=)
|
rs78256304
|
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
|
NM_001807.6(CEL):c.1677del (p.Val560fs)
|
|
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
|
NM_001807.6(CEL):c.1776dup (p.Val593fs)
|
rs193922638
|
|
|
NM_001807.6(CEL):c.1875del (p.Val626fs)
|
|
|
|
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)
|
rs984492184
|
|
|
NM_001807.6(CEL):c.203A>T (p.His68Leu)
|
|
|
|
NM_001807.6(CEL):c.2123A>T (p.Asp708Val)
|
|
|
|
NM_001807.6(CEL):c.277A>C (p.Ser93Arg)
|
|
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
|
NM_001807.6(CEL):c.341-83C>T
|
|
|
|
NM_001807.6(CEL):c.472G>A (p.Val158Met)
|
|
|
|
NM_001807.6(CEL):c.497del (p.Gly166fs)
|
|
|
|
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
|
|
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
|
|
|
NM_001807.6(CEL):c.850C>G (p.Arg284Gly)
|
rs369868891
|
|
|
NM_001807.6(CEL):c.99G>C (p.Val33=)
|
rs199971842
|
|
|
NM_001931.4(DLAT):c.381+22delT
|
rs5794771
|
|
|
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
|
|
|
|
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
|
rs982032675
|
|
|
NM_001931.5(DLAT):c.1130-6T>G
|
|
|
|
NM_001931.5(DLAT):c.1146T>A (p.Gly382=)
|
|
|
|
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)
|
|
|
|
NM_001931.5(DLAT):c.1197+11T>A
|
|
|
|
NM_001931.5(DLAT):c.1197+17T>A
|
rs2137783179
|
|
|
NM_001931.5(DLAT):c.1197+20T>C
|
rs2137783207
|
|
|
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)
|
|
|
|
NM_001931.5(DLAT):c.1287T>G (p.Arg429=)
|
|
|
|
NM_001931.5(DLAT):c.1290+5G>A
|
rs886047694
|
|
|
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)
|
rs782283884
|
|
|
NM_001931.5(DLAT):c.1291-10T>C
|
|
|
|
NM_001931.5(DLAT):c.1291-8G>C
|
|
|
|
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
|
|
|
|
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
|
rs1863289848
|
|
|
NM_001931.5(DLAT):c.1350C>T (p.Ile450=)
|
rs587724011
|
|
|
NM_001931.5(DLAT):c.1353T>C (p.Asp451=)
|
|
|
|
NM_001931.5(DLAT):c.1368A>G (p.Glu456=)
|
|
|
|
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)
|
rs147264946
|
|
|
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)
|
|
|
|
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
|
rs1863296122
|
|
|
NM_001931.5(DLAT):c.1399-13_1399-11del
|
rs587691611
|
|
|
NM_001931.5(DLAT):c.1399-20A>C
|
|
|
|
NM_001931.5(DLAT):c.144G>A (p.Val48=)
|
rs367745211
|
|
|
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)
|
|
|
|
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)
|
|
|
|
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
|
rs1863619150
|
|
|
NM_001931.5(DLAT):c.1515-13dup
|
|
|
|
NM_001931.5(DLAT):c.1515-7T>A
|
|
|
|
NM_001931.5(DLAT):c.1542G>C (p.Ala514=)
|
rs587652725
|
|
|
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)
|
rs2135156193
|
|
|
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
|
|
|
|
NM_001931.5(DLAT):c.1677+21_1677+24del
|
|
|
|
NM_001931.5(DLAT):c.1677+9T>C
|
|
|
|
NM_001931.5(DLAT):c.1678-8del
|
rs781833307
|
|
|
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)
|
rs782260343
|
|
|
NM_001931.5(DLAT):c.1695C>A (p.Ile565=)
|
|
|
|
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)
|
|
|
|
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)
|
rs1566642089
|
|
|
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)
|
rs782810132
|
|
|
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
|
|
|
|
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
|
|
|
|
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)
|
rs1864595330
|
|
|
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
|
|
|
|
NM_001931.5(DLAT):c.1851T>C (p.Ser617=)
|
|
|
|
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)
|
|
|
|
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)
|
|
|
|
NM_001931.5(DLAT):c.222G>A (p.Leu74=)
|
|
|
|
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)
|
rs782202863
|
|
|
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)
|
|
|
|
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
|
|
|
|
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
|
|
|
|
NM_001931.5(DLAT):c.279+18C>T
|
|
|
|
NM_001931.5(DLAT):c.279+18dup
|
|
|
|
NM_001931.5(DLAT):c.280-15C>T
|
rs782149548
|
|
|
NM_001931.5(DLAT):c.306A>G (p.Thr102=)
|
rs2137678633
|
|
|
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)
|
rs1555179245
|
|
|
NM_001931.5(DLAT):c.362_364del (p.Glu121del)
|
rs2137679109
|
|
|
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)
|
rs1555179247
|
|
|
NM_001931.5(DLAT):c.372A>C (p.Leu124=)
|
rs1861999426
|
|
|
NM_001931.5(DLAT):c.381+1G>T
|
|
|
|
NM_001931.5(DLAT):c.381+7T>A
|
rs1165421307
|
|
|
NM_001931.5(DLAT):c.382-16C>T
|
|
|
|
NM_001931.5(DLAT):c.382-19C>G
|
|
|
|
NM_001931.5(DLAT):c.396dup (p.Ala133fs)
|
rs782173047
|
|
|
NM_001931.5(DLAT):c.417C>T (p.Ser139=)
|
rs2137698040
|
|
|
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)
|
rs1201600211
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
|
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)
|
|
|
|
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)
|
|
|
|
NM_001931.5(DLAT):c.486C>G (p.Ile162Met)
|
|
|
|
NM_001931.5(DLAT):c.489C>T (p.Ile163=)
|
|
|
|
NM_001931.5(DLAT):c.507-12T>G
|
rs2137699407
|
|
|
NM_001931.5(DLAT):c.507-16T>A
|
|
|
|
NM_001931.5(DLAT):c.510T>A (p.Pro170=)
|
rs367605727
|
|
|
NM_001931.5(DLAT):c.54C>A (p.Leu18=)
|
rs1286345918
|
|
|
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)
|
|
|
|
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)
|
|
|
|
NM_001931.5(DLAT):c.568C>T (p.Gln190Ter)
|
|
|
|
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)
|
rs2137699929
|
|
|
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)
|
|
|
|
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
|
|
|
|
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)
|
|
|
|
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)
|
|
|
|
NM_001931.5(DLAT):c.660+19G>C
|
|
|
|
NM_001931.5(DLAT):c.723dup (p.Val242fs)
|
|
|
|
NM_001931.5(DLAT):c.735G>A (p.Lys245=)
|
|
|
|
NM_001931.5(DLAT):c.788-20_788-18del
|
|
|
|
NM_001931.5(DLAT):c.802del (p.Glu268fs)
|
|
|
|
NM_001931.5(DLAT):c.810T>G (p.Gly270=)
|
|
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
|
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)
|
|
|
|
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)
|
rs2137753489
|
|
|
NM_001931.5(DLAT):c.891G>A (p.Glu297=)
|
|
|
|
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)
|
rs1862828399
|
|
|
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
|
|
|
|
NM_001931.5(DLAT):c.921G>A (p.Arg307=)
|
rs1555180610
|
|
|
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)
|
|
|
|
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
|
rs1862832629
|
|
|
NM_001931.5(DLAT):c.957A>G (p.Pro319=)
|
|
|
|
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
|
|
|
|
NM_001931.5(DLAT):c.975+13C>T
|
rs2137754185
|
|
|
NM_001931.5(DLAT):c.975+15_975+16delinsGT
|
rs2137754230
|
|
|
NM_001931.5(DLAT):c.975+4G>A
|
|
|
|
NM_001931.5(DLAT):c.976-13T>G
|
|
|
|
NM_001931.5(DLAT):c.976-15A>T
|
rs1555180789
|
|
|
NM_001931.5(DLAT):c.976-2del
|
rs781853215
|
|
|
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)
|
rs1862931114
|
|
|
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)
|
rs2137674476
|
|
|
NM_001931.5(DLAT):c.9C>T (p.Arg3=)
|
|
|
|
NM_002076.3(GNS):c.-168dupC
|
rs145477737
|
|
|
NM_002076.4(GNS):c.*1580A>G
|
rs886049764
|
|
|
NM_002076.4(GNS):c.*1809T>C
|
rs1868815358
|
|
|
NM_002076.4(GNS):c.*1977A>G
|
rs1868809897
|
|
|
NM_002076.4(GNS):c.*2146G>A
|
rs900823217
|
|
|
NM_002076.4(GNS):c.*2406A>G
|
rs1868795917
|
|
|
NM_002076.4(GNS):c.*2489T>C
|
rs529418480
|
|
|
NM_002076.4(GNS):c.*2611dup
|
rs201933913
|
|
|
NM_002076.4(GNS):c.*2787del
|
rs886049760
|
|
|
NM_002076.4(GNS):c.*37G>T
|
rs142001509
|
|
|
NM_002076.4(GNS):c.*574G>A
|
rs886049770
|
|
|
NM_002076.4(GNS):c.*699G>C
|
rs1868848563
|
|
|
NM_002076.4(GNS):c.*734A>G
|
rs886049768
|
|
|
NM_002076.4(GNS):c.*846C>T
|
rs886049765
|
|
|
NM_002076.4(GNS):c.-120A>G
|
rs778270030
|
|
|
NM_002076.4(GNS):c.-39TCCCG[4]
|
rs559286032
|
|
|
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe)
|
|
|
|
NM_002076.4(GNS):c.1017C>T (p.Asp339=)
|
|
|
|
NM_002076.4(GNS):c.1019A>G (p.Lys340Arg)
|
|
|
|
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu)
|
|
|
|
NM_002076.4(GNS):c.1027C>T (p.Leu343=)
|
rs2136244455
|
|
|
NM_002076.4(GNS):c.1029G>A (p.Leu343=)
|
rs371914257
|
|
|
NM_002076.4(GNS):c.1032T>C (p.Tyr344=)
|
|
|
|
NM_002076.4(GNS):c.103C>T (p.Leu35=)
|
|
|
|
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
|
|
|
|
NM_002076.4(GNS):c.1056G>A (p.Leu352=)
|
rs754626354
|
|
|
NM_002076.4(GNS):c.1056G>C (p.Leu352=)
|
|
|
|
NM_002076.4(GNS):c.105G>A (p.Leu35=)
|
|
|
|
NM_002076.4(GNS):c.1063C>T (p.Arg355Ter)
|
rs119461974
|
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
|
NM_002076.4(GNS):c.1068A>G (p.Gly356=)
|
|
|
|
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu)
|
|
|
|
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu)
|
|
|
|
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu)
|
|
|
|
NM_002076.4(GNS):c.108G>T (p.Gly36=)
|
rs1870387135
|
|
|
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile)
|
|
|
|
NM_002076.4(GNS):c.1098+17C>G
|
|
|
|
NM_002076.4(GNS):c.1098+19G>A
|
|
|
|
NM_002076.4(GNS):c.1098+1G>A
|
|
|
|
NM_002076.4(GNS):c.1098+3A>G
|
|
|
|
NM_002076.4(GNS):c.1098+7G>A
|
rs945038474
|
|
|
NM_002076.4(GNS):c.1099-10A>C
|
rs2136240601
|
|
|
NM_002076.4(GNS):c.1099-10A>G
|
rs2136240601
|
|
|
NM_002076.4(GNS):c.1099-13C>T
|
|
|
|
NM_002076.4(GNS):c.1099-17T>C
|
rs2136240606
|
|
|
NM_002076.4(GNS):c.1099-19T>C
|
|
|
|
NM_002076.4(GNS):c.1099-4A>G
|
|
|
|
NM_002076.4(GNS):c.1099-4A>T
|
rs1221669137
|
|
|
NM_002076.4(GNS):c.1099-6T>C
|
rs2136240597
|
|
|
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
|
|
|
|
NM_002076.4(GNS):c.1102C>T (p.Leu368=)
|
|
|
|
NM_002076.4(GNS):c.1104G>C (p.Leu368=)
|
rs766168524
|
|
|
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
|
|
|
|
NM_002076.4(GNS):c.1110C>G (p.Ala370=)
|
|
|
|
NM_002076.4(GNS):c.1110C>T (p.Ala370=)
|
|
|
|
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)
|
rs2136240576
|
|
|
NM_002076.4(GNS):c.111C>A (p.Val37=)
|
rs1156605468
|
|
|
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
|
|
|
|
NM_002076.4(GNS):c.1122G>A (p.Leu374=)
|
|
|
|
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
|
|
|
|
NM_002076.4(GNS):c.1131T>C (p.Thr377=)
|
|
|
|
NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs)
|
rs483352899
|
|
|
NM_002076.4(GNS):c.1140C>T (p.Asp380=)
|
rs749616788
|
|
|
NM_002076.4(GNS):c.1143T>A (p.Ile381=)
|
|
|
|
NM_002076.4(GNS):c.1143T>C (p.Ile381=)
|
|
|
|
NM_002076.4(GNS):c.1146T>A (p.Ala382=)
|
rs2136240550
|
|
|
NM_002076.4(GNS):c.115G>A (p.Gly39Arg)
|
|
|
|
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser)
|
|
|
|
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys)
|
rs2136240532
|
|
|
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile)
|
rs944030718
|
|
|
NM_002076.4(GNS):c.1168C>T (p.Gln390Ter)
|
rs119461975
|
|
|
NM_002076.4(GNS):c.1169del (p.Gln390fs)
|
rs483352898
|
|
|
NM_002076.4(GNS):c.1179G>A (p.Gly393=)
|
rs2136240521
|
|
|
NM_002076.4(GNS):c.118del (p.Val40fs)
|
rs2136259376
|
|
|
NM_002076.4(GNS):c.1194C>G (p.Pro398=)
|
|
|
|
NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer)
|
rs1869297835
|
|
|
NM_002076.4(GNS):c.1200+11C>A
|
rs775301317
|
|
|
NM_002076.4(GNS):c.1200+11C>T
|
|
|
|
NM_002076.4(GNS):c.1200+14C>T
|
|
|
|
NM_002076.4(GNS):c.1200+15C>G
|
|
|
|
NM_002076.4(GNS):c.1200+15C>T
|
|
|
|
NM_002076.4(GNS):c.1200+18A>G
|
|
|
|
NM_002076.4(GNS):c.1200+1G>T
|
|
|
|
NM_002076.4(GNS):c.1200+2T>A
|
rs2136240508
|
|
|
NM_002076.4(GNS):c.1200+5_1200+7del
|
rs2136240506
|
|
|
NM_002076.4(GNS):c.1200+8T>C
|
|
|
|
NM_002076.4(GNS):c.1201-10T>C
|
|
|
|
NM_002076.4(GNS):c.1201-11C>T
|
|
|
|
NM_002076.4(GNS):c.1201-11_1201-10del
|
|
|
|
NM_002076.4(GNS):c.1201-12T>C
|
|
|
|
NM_002076.4(GNS):c.1201-13C>T
|
|
|
|
NM_002076.4(GNS):c.1201-17C>T
|
|
|
|
NM_002076.4(GNS):c.1201-4C>G
|
|
|
|
NM_002076.4(GNS):c.1201-4C>T
|
rs2136237942
|
|
|
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
|
|
|
|
NM_002076.4(GNS):c.1212T>C (p.Ser404=)
|
rs2136237933
|
|
|
NM_002076.4(GNS):c.1215C>T (p.Asn405=)
|
rs1425989538
|
|
|
NM_002076.4(GNS):c.1216T>C (p.Leu406=)
|
|
|
|
NM_002076.4(GNS):c.1221C>T (p.Thr407=)
|
rs773323544
|
|
|
NM_002076.4(GNS):c.1225C>T (p.Arg409Ter)
|
|
|
|
NM_002076.4(GNS):c.1226dup (p.Ser410fs)
|
rs483352900
|
|
|
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
|
|
|
|
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
|
|
|
|
NM_002076.4(GNS):c.1231dup (p.Asp411fs)
|
|
|
|
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
|
|
|
|
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
|
|
|
|
NM_002076.4(GNS):c.1245A>G (p.Glu415=)
|
|
|
|
NM_002076.4(GNS):c.1249C>T (p.Gln417Ter)
|
rs2136237909
|
|
|
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
|
|
|
|
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_002076.4(GNS):c.1269C>T (p.Val423=)
|
|
|
|
NM_002076.4(GNS):c.1281A>G (p.Thr427=)
|
|
|
|
NM_002076.4(GNS):c.1305A>G (p.Val435=)
|
rs1259126055
|
|
|
NM_002076.4(GNS):c.1308+14T>G
|
|
|
|
NM_002076.4(GNS):c.1308+15del
|
|
|
|
NM_002076.4(GNS):c.1308+7A>C
|
|
|
|
NM_002076.4(GNS):c.1308+8A>T
|
|
|
|
NM_002076.4(GNS):c.1308+9T>C
|
|
|
|
NM_002076.4(GNS):c.1309-15G>T
|
|
|
|
NM_002076.4(GNS):c.1309-15del
|
|
|
|
NM_002076.4(GNS):c.1309-16T>C
|
|
|
|
NM_002076.4(GNS):c.1309-20C>T
|
|
|
|
NM_002076.4(GNS):c.1309-4A>T
|
|
|
|
NM_002076.4(GNS):c.1309-6C>G
|
rs1592491918
|
|
|
NM_002076.4(GNS):c.1309-6C>T
|
rs1592491918
|
|
|
NM_002076.4(GNS):c.1309-8C>A
|
|
|
|
NM_002076.4(GNS):c.1309-9T>C
|
rs1869033080
|
|
|
NM_002076.4(GNS):c.1311A>G (p.Gln437=)
|
|
|
|
NM_002076.4(GNS):c.1320A>G (p.Pro440=)
|
|
|
|
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)
|
|
|
|
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
|
|
|
|
NM_002076.4(GNS):c.1326T>C (p.Cys442=)
|
|
|
|
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
|
|
|
|
NM_002076.4(GNS):c.132C>G (p.Thr44=)
|
rs1592514574
|
|
|
NM_002076.4(GNS):c.133C>A (p.Arg45=)
|
rs1870385540
|
|
|
NM_002076.4(GNS):c.1341T>G (p.Ala447=)
|
|
|
|
NM_002076.4(GNS):c.1353C>A (p.Thr451=)
|
rs749445364
|
|
|
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)
|
rs2136237284
|
|
|
NM_002076.4(GNS):c.1371A>C (p.Thr457=)
|
|
|
|
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
|
|
|
|
NM_002076.4(GNS):c.1377A>G (p.Ser459=)
|
|
|
|
NM_002076.4(GNS):c.1380A>G (p.Ala460=)
|
|
|
|
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
|
|
|
|
NM_002076.4(GNS):c.1398T>C (p.Tyr466=)
|
rs2136237264
|
|
|
NM_002076.4(GNS):c.1401C>T (p.Cys467=)
|
|
|
|
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
|
|
|
|
NM_002076.4(GNS):c.1414C>T (p.Gln472Ter)
|
rs2136237257
|
|
|
NM_002076.4(GNS):c.1414dup (p.Gln472fs)
|
|
|
|
NM_002076.4(GNS):c.1419+14C>T
|
|
|
|
NM_002076.4(GNS):c.1419+17C>T
|
|
|
|
NM_002076.4(GNS):c.1419+20G>A
|
|
|
|
NM_002076.4(GNS):c.1419+7G>A
|
|
|
|
NM_002076.4(GNS):c.1419+7G>C
|
|
|
|
NM_002076.4(GNS):c.1420-13T>C
|
|
|
|
NM_002076.4(GNS):c.1420-16C>G
|
|
|
|
NM_002076.4(GNS):c.1420-16C>T
|
|
|
|
NM_002076.4(GNS):c.1420-19A>C
|
|
|
|
NM_002076.4(GNS):c.1420-19A>T
|
rs2136236660
|
|
|
NM_002076.4(GNS):c.1420-2A>G
|
rs2136236649
|
|
|
NM_002076.4(GNS):c.1420-6C>T
|
rs2136236651
|
|
|
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser)
|
|
|
|
NM_002076.4(GNS):c.142A>C (p.Asn48His)
|
|
|
|
NM_002076.4(GNS):c.1433T>G (p.Val478Gly)
|
|
|
|
NM_002076.4(GNS):c.1441C>T (p.Leu481=)
|
rs2136236637
|
|
|
NM_002076.4(GNS):c.1446T>A (p.Thr482=)
|
|
|
|
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)
|
rs1163229693
|
|
|
NM_002076.4(GNS):c.144C>T (p.Asn48=)
|
rs2136259327
|
|
|
NM_002076.4(GNS):c.1455A>G (p.Pro485=)
|
|
|
|
NM_002076.4(GNS):c.1458C>T (p.Asp486=)
|
rs2136236622
|
|
|
NM_002076.4(GNS):c.1459C>T (p.Gln487Ter)
|
rs2136236619
|
|
|
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
|
|
|
|
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
|
|
|
|
NM_002076.4(GNS):c.1473T>A (p.Ile491=)
|
rs2136236609
|
|
|
NM_002076.4(GNS):c.147G>A (p.Val49=)
|
|
|
|
NM_002076.4(GNS):c.1488C>T (p.Asp496=)
|
|
|
|
NM_002076.4(GNS):c.148dup (p.Val50fs)
|
rs2136259310
|
|
|
NM_002076.4(GNS):c.1491A>G (p.Pro497=)
|
rs2136236596
|
|
|
NM_002076.4(GNS):c.1503A>C (p.Gly501=)
|
|
|
|
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
|
|
|
|
NM_002076.4(GNS):c.1518G>A (p.Arg506=)
|
rs1000381159
|
|
|
NM_002076.4(GNS):c.1518G>T (p.Arg506=)
|
rs1000381159
|
|
|
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
|
|
|
|
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
|
|
|
|
NM_002076.4(GNS):c.1539T>C (p.Cys513=)
|
|
|
|
NM_002076.4(GNS):c.153G>C (p.Leu51=)
|
|
|
|
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter)
|
|
|
|
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys)
|
|
|
|
NM_002076.4(GNS):c.1556G>A (p.Arg519His)
|
|
|
|
NM_002076.4(GNS):c.1560T>G (p.Thr520=)
|
|
|
|
NM_002076.4(GNS):c.156C>G (p.Leu52=)
|
rs951936514
|
|
|
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser)
|
|
|
|
NM_002076.4(GNS):c.1575C>T (p.Asp525=)
|
rs2136236573
|
|
|
NM_002076.4(GNS):c.1578C>A (p.Pro526=)
|
|
|
|
NM_002076.4(GNS):c.1578C>G (p.Pro526=)
|
|
|
|
NM_002076.4(GNS):c.1580+10C>T
|
rs2136236567
|
|
|
NM_002076.4(GNS):c.1580+12T>G
|
|
|
|
NM_002076.4(GNS):c.1580+13T>C
|
|
|
|
NM_002076.4(GNS):c.1580+17T>C
|
rs2136236562
|
|
|
NM_002076.4(GNS):c.1580+9C>G
|
rs1429111979
|
|
|
NM_002076.4(GNS):c.1581-14T>C
|
|
|
|
NM_002076.4(GNS):c.1581-15G>A
|
|
|
|
NM_002076.4(GNS):c.1581-1G>A
|
rs1868873740
|
|
|
NM_002076.4(GNS):c.1581-20A>G
|
|
|
|
NM_002076.4(GNS):c.1581-5C>G
|
|
|
|
NM_002076.4(GNS):c.1584C>T (p.Tyr528=)
|
|
|
|
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
|
|
|
|
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
|
|
|
|
NM_002076.4(GNS):c.1596C>T (p.Pro532=)
|
|
|
|
NM_002076.4(GNS):c.159C>T (p.Leu53=)
|
rs2136259284
|
|
|
NM_002076.4(GNS):c.15T>C (p.Pro5=)
|
|
|
|
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)
|
|
|
|
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)
|
rs776925981
|
|
|
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)
|
|
|
|
NM_002076.4(GNS):c.1617C>T (p.Arg539=)
|
rs1592489447
|
|
|
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)
|
|
|
|
NM_002076.4(GNS):c.1623T>C (p.Ser541=)
|
rs2136235293
|
|
|
NM_002076.4(GNS):c.1626C>T (p.Val542=)
|
|
|
|
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)
|
rs763232728
|
|
|
NM_002076.4(GNS):c.1629G>A (p.Arg543=)
|
rs778448292
|
|
|
NM_002076.4(GNS):c.162G>C (p.Thr54=)
|
|
|
|
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
|
|
|
|
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
|
|
|
|
NM_002076.4(GNS):c.1656G>A (p.Leu552=)
|
rs1382653749
|
|
|
NM_002076.4(GNS):c.165C>T (p.Asp55=)
|
rs1345914923
|
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
|
NM_002076.4(GNS):c.174C>T (p.Asp58=)
|
|
|
|
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
|
|
|
|
NM_002076.4(GNS):c.183C>G (p.Leu61=)
|
|
|
|
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
|
|
|
|
NM_002076.4(GNS):c.18A>G (p.Leu6=)
|
rs2136259594
|
|
|
NM_002076.4(GNS):c.192+10C>T
|
|
|
|
NM_002076.4(GNS):c.192+10_192+11del
|
rs1592514466
|
|
|
NM_002076.4(GNS):c.192+12G>T
|
rs1870381062
|
|
|
NM_002076.4(GNS):c.192+15T>A
|
|
|
|
NM_002076.4(GNS):c.192+16C>T
|
|
|
|
NM_002076.4(GNS):c.192+19C>T
|
rs1870380285
|
|
|
NM_002076.4(GNS):c.192+7_192+8del
|
|
|
|
NM_002076.4(GNS):c.192+8T>A
|
|
|
|
NM_002076.4(GNS):c.192+8T>C
|
rs2136259214
|
|
|
NM_002076.4(GNS):c.193-10_193-7del
|
|
|
|
NM_002076.4(GNS):c.193-13C>T
|
|
|
|
NM_002076.4(GNS):c.193-15T>G
|
|
|
|
NM_002076.4(GNS):c.193-7T>C
|
|
|
|
NM_002076.4(GNS):c.198G>T (p.Pro66=)
|
rs1147096
|
|
|
NM_002076.4(GNS):c.201A>G (p.Leu67=)
|
|
|
|
NM_002076.4(GNS):c.214_220del (p.Ala72fs)
|
rs759378094
|
|
|
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
|
|
|
|
NM_002076.4(GNS):c.219C>A (p.Leu73=)
|
rs376829383
|
|
|
NM_002076.4(GNS):c.222C>A (p.Ile74=)
|
|
|
|
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
|
|
|
|
NM_002076.4(GNS):c.222C>T (p.Ile74=)
|
rs1375026446
|
|
|
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
|
|
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
|
NM_002076.4(GNS):c.236_252+8del
|
rs2136253236
|
|
|
NM_002076.4(GNS):c.23del (p.Pro8fs)
|
rs2136259586
|
|
|
NM_002076.4(GNS):c.246C>T (p.Ser82=)
|
rs2136253254
|
|
|
NM_002076.4(GNS):c.246del (p.Ser83fs)
|
|
|
|
NM_002076.4(GNS):c.24A>G (p.Pro8=)
|
rs2136259580
|
|
|
NM_002076.4(GNS):c.252+1G>T
|
rs368414819
|
|
|
NM_002076.4(GNS):c.252+20C>G
|
|
|
|
NM_002076.4(GNS):c.252+20C>T
|
|
|
|
NM_002076.4(GNS):c.253-10del
|
rs201654719
|
|
|
NM_002076.4(GNS):c.253-11T>C
|
rs557641309
|
|
|
NM_002076.4(GNS):c.253-11T>G
|
|
|
|
NM_002076.4(GNS):c.253-15del
|
|
|
|
NM_002076.4(GNS):c.253-17C>T
|
|
|
|
NM_002076.4(GNS):c.253-5T>C
|
|
|
|
NM_002076.4(GNS):c.253-6T>C
|
|
|
|
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
|
|
|
|
NM_002076.4(GNS):c.255T>C (p.Tyr85=)
|
rs765701552
|
|
|
NM_002076.4(GNS):c.255T>G (p.Tyr85Ter)
|
|
|
|
NM_002076.4(GNS):c.257_258del (p.Val86fs)
|
|
|
|
NM_002076.4(GNS):c.270C>T (p.Leu90=)
|
|
|
|
NM_002076.4(GNS):c.276C>T (p.Cys92=)
|
|
|
|
NM_002076.4(GNS):c.279C>T (p.Pro93=)
|
rs1592506570
|
|
|
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
|
|
|
|
NM_002076.4(GNS):c.286_287del (p.Ala96fs)
|
|
|
|
NM_002076.4(GNS):c.294C>T (p.Ile98=)
|
|
|
|
NM_002076.4(GNS):c.295C>T (p.Leu99=)
|
|
|
|
NM_002076.4(GNS):c.297G>A (p.Leu99=)
|
rs1565627083
|
|
|
NM_002076.4(GNS):c.300A>G (p.Thr100=)
|
rs370542872
|
|
|
NM_002076.4(GNS):c.30G>T (p.Arg10=)
|
|
|
|
NM_002076.4(GNS):c.320_326del (p.His107fs)
|
|
|
|
NM_002076.4(GNS):c.321T>C (p.His107=)
|
|
|
|
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
|
|
|
|
NM_002076.4(GNS):c.327T>A (p.Val109=)
|
|
|
|
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
|
|
|
|
NM_002076.4(GNS):c.339T>A (p.Thr113=)
|
rs1869942986
|
|
|
NM_002076.4(GNS):c.345G>A (p.Glu115=)
|
|
|
|
NM_002076.4(GNS):c.348G>A (p.Gly116=)
|
|
|
|
NM_002076.4(GNS):c.34C>T (p.Arg12Trp)
|
|
|
|
NM_002076.4(GNS):c.359G>A (p.Ser120Asn)
|
|
|
|
NM_002076.4(GNS):c.35G>A (p.Arg12Gln)
|
|
|
|
NM_002076.4(GNS):c.360T>C (p.Ser120=)
|
rs2136249902
|
|
|
NM_002076.4(GNS):c.361A>G (p.Lys121Glu)
|
|
|
|
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
|
|
|
|
NM_002076.4(GNS):c.372G>A (p.Gln124=)
|
|
|
|
NM_002076.4(GNS):c.379del (p.Gln127fs)
|
rs1869941124
|
|
|
NM_002076.4(GNS):c.384A>G (p.Glu128=)
|
|
|
|
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
|
|
|
|
NM_002076.4(GNS):c.386dup (p.Asn130fs)
|
rs2136249878
|
|
|
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
|
|
|
|
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
|
|
|
|
NM_002076.4(GNS):c.393T>A (p.Thr131=)
|
|
|
|
NM_002076.4(GNS):c.393T>C (p.Thr131=)
|
rs1869940104
|
|
|
NM_002076.4(GNS):c.393T>G (p.Thr131=)
|
|
|
|
NM_002076.4(GNS):c.39G>A (p.Arg13=)
|
rs956710996
|
|
|
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
|
|
|
|
NM_002076.4(GNS):c.400del (p.Ala134fs)
|
|
|
|
NM_002076.4(GNS):c.413C>A (p.Ser138Ter)
|
|
|
|
NM_002076.4(GNS):c.430A>G (p.Thr144Ala)
|
rs2136249846
|
|
|
NM_002076.4(GNS):c.441del (p.Lys149fs)
|
|
|
|
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
|
|
|
|
NM_002076.4(GNS):c.447A>C (p.Lys149Asn)
|
|
|
|
NM_002076.4(GNS):c.447A>G (p.Lys149=)
|
|
|
|
NM_002076.4(GNS):c.454A>G (p.Asn152Asp)
|
rs2136249836
|
|
|
NM_002076.4(GNS):c.459+10A>G
|
rs762826979
|
|
|
NM_002076.4(GNS):c.459+11T>C
|
|
|
|
NM_002076.4(GNS):c.459+11_459+14del
|
|
|
|
NM_002076.4(GNS):c.459+12G>C
|
|
|
|
NM_002076.4(GNS):c.459+14T>A
|
|
|
|
NM_002076.4(GNS):c.459+16T>G
|
|
|
|
NM_002076.4(GNS):c.459+18T>C
|
|
|
|
NM_002076.4(GNS):c.459+1_459+2del
|
rs2136249835
|
|
|
NM_002076.4(GNS):c.459+8G>T
|
rs199789530
|
|
|
NM_002076.4(GNS):c.460-10T>C
|
|
|
|
NM_002076.4(GNS):c.460-17C>T
|
|
|
|
NM_002076.4(GNS):c.460-20C>G
|
|
|
|
NM_002076.4(GNS):c.460-20C>T
|
|
|
|
NM_002076.4(GNS):c.460-4T>G
|
rs2136248910
|
|
|
NM_002076.4(GNS):c.460-5T>G
|
|
|
|
NM_002076.4(GNS):c.468C>A (p.Ala156=)
|
rs147780685
|
|
|
NM_002076.4(GNS):c.471A>G (p.Pro157=)
|
rs2136248890
|
|
|
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
|
|
|
|
NM_002076.4(GNS):c.477A>G (p.Ala159=)
|
|
|
|
NM_002076.4(GNS):c.486A>G (p.Leu162=)
|
rs766459418
|
|
|
NM_002076.4(GNS):c.48C>G (p.Pro16=)
|
rs2136259544
|
|
|
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
|
|
|
|
NM_002076.4(GNS):c.498T>C (p.Pro166=)
|
rs2136248867
|
|
|
NM_002076.4(GNS):c.49dup (p.Arg17fs)
|
|
|
|
NM_002076.4(GNS):c.4del (p.Arg2fs)
|
rs2136259630
|
|
|
NM_002076.4(GNS):c.504T>C (p.Gly168=)
|
|
|
|
NM_002076.4(GNS):c.506G>A (p.Trp169Ter)
|
rs2136248862
|
|
|
NM_002076.4(GNS):c.510T>C (p.Ser170=)
|
|
|
|
NM_002076.4(GNS):c.513C>T (p.Tyr171=)
|
|
|
|
NM_002076.4(GNS):c.522C>T (p.Ala174=)
|
rs2136248842
|
|
|
NM_002076.4(GNS):c.525+12T>C
|
|
|
|
NM_002076.4(GNS):c.525+16A>T
|
|
|
|
NM_002076.4(GNS):c.525+19C>T
|
|
|
|
NM_002076.4(GNS):c.525+20T>C
|
rs1428097709
|
|
|
NM_002076.4(GNS):c.525G>A (p.Leu175=)
|
rs2136248840
|
|
|
NM_002076.4(GNS):c.526-11C>T
|
rs2136248437
|
|
|
NM_002076.4(GNS):c.526-16T>C
|
|
|
|
NM_002076.4(GNS):c.526-6del
|
rs2136248435
|
|
|
NM_002076.4(GNS):c.526G>T (p.Glu176Ter)
|
rs2136248430
|
|
|
NM_002076.4(GNS):c.537T>G (p.Ser179=)
|
|
|
|
NM_002076.4(GNS):c.538A>T (p.Lys180Ter)
|
rs2136248422
|
|
|
NM_002076.4(GNS):c.54C>T (p.His18=)
|
rs2136259524
|
|
|
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
|
|
|
|
NM_002076.4(GNS):c.55C>T (p.Leu19=)
|
rs1307936431
|
|
|
NM_002076.4(GNS):c.561T>A (p.Ser187=)
|
|
|
|
NM_002076.4(GNS):c.561T>C (p.Ser187=)
|
|
|
|
NM_002076.4(GNS):c.585T>C (p.His195=)
|
rs1322850279
|
|
|
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
|
|
|
|
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
|
|
|
|
NM_002076.4(GNS):c.59_66del (p.Pro20fs)
|
|
|
|
NM_002076.4(GNS):c.600T>C (p.Ser200=)
|
rs2136248388
|
|
|
NM_002076.4(GNS):c.605A>G (p.Asp202Gly)
|
rs1439386150
|
|
|
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
|
rs1439386150
|
|
|
NM_002076.4(GNS):c.60C>T (p.Pro20=)
|
|
|
|
NM_002076.4(GNS):c.616_617del (p.Asp206fs)
|
|
|
|
NM_002076.4(GNS):c.624+11G>A
|
|
|
|
NM_002076.4(GNS):c.624+13A>G
|
|
|
|
NM_002076.4(GNS):c.624+14G>C
|
|
|
|
NM_002076.4(GNS):c.624+14G>T
|
|
|
|
NM_002076.4(GNS):c.624+16T>G
|
|
|
|
NM_002076.4(GNS):c.624+20T>A
|
|
|
|
NM_002076.4(GNS):c.624+7T>G
|
|
|
|
NM_002076.4(GNS):c.624+9C>T
|
|
|
|
NM_002076.4(GNS):c.625-10dup
|
rs2136247672
|
|
|
NM_002076.4(GNS):c.625-11T>G
|
|
|
|
NM_002076.4(GNS):c.625-13T>A
|
rs1195674881
|
|
|
NM_002076.4(GNS):c.625-16T>A
|
|
|
|
NM_002076.4(GNS):c.625-18A>G
|
|
|
|
NM_002076.4(GNS):c.625-1G>A
|
|
|
|
NM_002076.4(GNS):c.625-2A>G
|
rs2136247666
|
|
|
NM_002076.4(GNS):c.625-5G>C
|
rs2136247669
|
|
|
NM_002076.4(GNS):c.627T>A (p.Ala209=)
|
rs772521115
|
|
|
NM_002076.4(GNS):c.633C>A (p.Val211=)
|
rs367799685
|
|
|
NM_002076.4(GNS):c.633C>G (p.Val211=)
|
|
|
|
NM_002076.4(GNS):c.636C>G (p.Ser212=)
|
|
|
|
NM_002076.4(GNS):c.638del (p.Leu213fs)
|
rs2136247658
|
|
|
NM_002076.4(GNS):c.63C>T (p.Ser21=)
|
|
|
|
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr)
|
|
|
|
NM_002076.4(GNS):c.645T>C (p.Phe215=)
|
rs1193339932
|
|
|
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
|
|
|
|
NM_002076.4(GNS):c.654C>A (p.Tyr218Ter)
|
rs2136247644
|
|
|
NM_002076.4(GNS):c.663C>T (p.Asn221=)
|
rs2136247641
|
|
|
NM_002076.4(GNS):c.666T>C (p.Phe222=)
|
|
|
|
NM_002076.4(GNS):c.667G>T (p.Glu223Ter)
|
|
|
|
NM_002076.4(GNS):c.669G>A (p.Glu223=)
|
|
|
|
NM_002076.4(GNS):c.66C>T (p.Cys22=)
|
|
|
|
NM_002076.4(GNS):c.672C>T (p.Pro224=)
|
|
|
|
NM_002076.4(GNS):c.675C>T (p.Phe225=)
|
|
|
|
NM_002076.4(GNS):c.679A>C (p.Met227Leu)
|
rs901034074
|
|
|
NM_002076.4(GNS):c.694C>T (p.Pro232Ser)
|
|
|
|
NM_002076.4(GNS):c.698C>T (p.Ala233Val)
|
rs766044815
|
|
|
NM_002076.4(GNS):c.705T>C (p.His235=)
|
rs2136247609
|
|
|
NM_002076.4(GNS):c.707C>T (p.Ser236Leu)
|
rs769055154
|
|
|
NM_002076.4(GNS):c.708G>T (p.Ser236=)
|
|
|
|
NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
|
|
|
|
NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
|
|
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
|
NM_002076.4(GNS):c.717A>G (p.Thr239=)
|
rs1263645910
|
|
|
NM_002076.4(GNS):c.717A>T (p.Thr239=)
|
|
|
|
NM_002076.4(GNS):c.720T>C (p.Ala240=)
|
rs2136247587
|
|
|
NM_002076.4(GNS):c.720T>G (p.Ala240=)
|
rs2136247587
|
|
|
NM_002076.4(GNS):c.723A>C (p.Ala241=)
|
rs770999308
|
|
|
NM_002076.4(GNS):c.723A>G (p.Ala241=)
|
rs770999308
|
|
|
NM_002076.4(GNS):c.732C>A (p.Tyr244Ter)
|
rs2136247574
|
|
|
NM_002076.4(GNS):c.732C>G (p.Tyr244Ter)
|
|
|
|
NM_002076.4(GNS):c.738G>A (p.Lys246=)
|
|
|
|
NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
|
|
|
|
NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
|
|
|
|
NM_002076.4(GNS):c.744C>T (p.Phe248=)
|
|
|
|
NM_002076.4(GNS):c.750T>C (p.Asn250=)
|
rs752828899
|
|
|
NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
|
|
|
|
NM_002076.4(GNS):c.762A>G (p.Pro254=)
|
rs2136247555
|
|
|
NM_002076.4(GNS):c.763A>C (p.Arg255=)
|
rs754806632
|
|
|
NM_002076.4(GNS):c.76C>G (p.Leu26Val)
|
|
|
|
NM_002076.4(GNS):c.76C>T (p.Leu26=)
|
|
|
|
NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
|
|
|
|
NM_002076.4(GNS):c.779A>G (p.Asn260Ser)
|
rs2136247542
|
|
|
NM_002076.4(GNS):c.783C>T (p.Ile261=)
|
rs2136247536
|
|
|
NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
|
|
|
|
NM_002076.4(GNS):c.789A>G (p.Gly263=)
|
rs2136247530
|
|
|
NM_002076.4(GNS):c.78G>A (p.Leu26=)
|
|
|
|
NM_002076.4(GNS):c.792+12C>G
|
|
|
|
NM_002076.4(GNS):c.792+13A>G
|
|
|
|
NM_002076.4(GNS):c.792+1G>A
|
|
|
|
NM_002076.4(GNS):c.792+9C>T
|
rs2136247523
|
|
|
NM_002076.4(GNS):c.793-11C>T
|
|
|
|
NM_002076.4(GNS):c.793-15del
|
rs754323701
|
|
|
NM_002076.4(GNS):c.793-15dup
|
|
|
|
NM_002076.4(GNS):c.798G>A (p.Lys266=)
|
|
|
|
NM_002076.4(GNS):c.801C>T (p.His267=)
|
rs758411953
|
|
|
NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
|
|
|
|
NM_002076.4(GNS):c.814C>T (p.Gln272Ter)
|
rs1365770233
|
|
|
NM_002076.4(GNS):c.825T>C (p.Thr275=)
|
|
|
|
NM_002076.4(GNS):c.828A>G (p.Pro276=)
|
rs756712675
|
|
|
NM_002076.4(GNS):c.82C>T (p.Leu28=)
|
|
|
|
NM_002076.4(GNS):c.837T>C (p.Asn279=)
|
|
|
|
NM_002076.4(GNS):c.841_842insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTAATTCTT (p.Ser280_Ser281insPhePhePhePhePhePhePheXaaXaaXaaXaaProArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProThrAsnSer)
|
rs2136246147
|
|
|
NM_002076.4(GNS):c.849G>A (p.Gln283=)
|
|
|
|
NM_002076.4(GNS):c.855A>G (p.Leu285=)
|
rs2136246141
|
|
|
NM_002076.4(GNS):c.858T>C (p.Asp286=)
|
rs2136246138
|
|
|
NM_002076.4(GNS):c.859A>G (p.Asn287Asp)
|
|
|
|
NM_002076.4(GNS):c.85C>G (p.Leu29Val)
|
|
|
|
NM_002076.4(GNS):c.85C>T (p.Leu29=)
|
rs1245676297
|
|
|
NM_002076.4(GNS):c.861T>C (p.Asn287=)
|
|
|
|
NM_002076.4(GNS):c.873A>G (p.Lys291=)
|
|
|
|
NM_002076.4(GNS):c.875+11C>G
|
|
|
|
NM_002076.4(GNS):c.875+14C>A
|
|
|
|
NM_002076.4(GNS):c.875+17C>G
|
|
|
|
NM_002076.4(GNS):c.875+18A>G
|
rs748171659
|
|
|
NM_002076.4(GNS):c.875+1G>A
|
rs1214781989
|
|
|
NM_002076.4(GNS):c.875+20A>G
|
|
|
|
NM_002076.4(GNS):c.875+7G>A
|
rs968486495
|
|
|
NM_002076.4(GNS):c.875+7GCT[4]
|
|
|
|
NM_002076.4(GNS):c.875+9dup
|
|
|
|
NM_002076.4(GNS):c.876-17C>T
|
rs2136245561
|
|
|
NM_002076.4(GNS):c.876-19A>G
|
|
|
|
NM_002076.4(GNS):c.876-2A>G
|
|
|
|
NM_002076.4(GNS):c.876-5del
|
rs2136245551
|
|
|
NM_002076.4(GNS):c.876-8A>C
|
|
|
|
NM_002076.4(GNS):c.876-8A>G
|
rs1869660466
|
|
|
NM_002076.4(GNS):c.87G>T (p.Leu29=)
|
rs2136259446
|
|
|
NM_002076.4(GNS):c.882A>C (p.Gln294His)
|
|
|
|
NM_002076.4(GNS):c.882A>G (p.Gln294=)
|
rs2136245535
|
|
|
NM_002076.4(GNS):c.887_888del (p.Leu296fs)
|
rs2136245530
|
|
|
NM_002076.4(GNS):c.896T>C (p.Val299Ala)
|
|
|
|
NM_002076.4(GNS):c.903C>T (p.Asp301=)
|
rs761143788
|
|
|
NM_002076.4(GNS):c.906T>C (p.Leu302=)
|
rs2136245524
|
|
|
NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
|
|
|
|
NM_002076.4(GNS):c.915A>G (p.Lys305=)
|
rs766823105
|
|
|
NM_002076.4(GNS):c.916C>A (p.Leu306Met)
|
|
|
|
NM_002076.4(GNS):c.916C>G (p.Leu306Val)
|
|
|
|
NM_002076.4(GNS):c.918G>A (p.Leu306=)
|
|
|
|
NM_002076.4(GNS):c.921C>G (p.Val307=)
|
|
|
|
NM_002076.4(GNS):c.921C>T (p.Val307=)
|
|
|
|
NM_002076.4(GNS):c.923A>G (p.Lys308Arg)
|
rs1168212943
|
|
|
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)
|
|
|
|
NM_002076.4(GNS):c.927G>A (p.Arg309=)
|
|
|
|
NM_002076.4(GNS):c.937dup (p.Thr313fs)
|
|
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
|
NM_002076.4(GNS):c.940G>A (p.Gly314Arg)
|
|
|
|
NM_002076.4(GNS):c.950A>G (p.Asn317Ser)
|
rs2136245502
|
|
|
NM_002076.4(GNS):c.951C>T (p.Asn317=)
|
|
|
|
NM_002076.4(GNS):c.959dup (p.Tyr320Ter)
|
|
|
|
NM_002076.4(GNS):c.960C>T (p.Tyr320=)
|
rs775564692
|
|
|
NM_002076.4(GNS):c.961A>G (p.Ile321Val)
|
|
|
|
NM_002076.4(GNS):c.96C>A (p.Gly32=)
|
|
|
|
NM_002076.4(GNS):c.96C>T (p.Gly32=)
|
|
|
|
NM_002076.4(GNS):c.974C>G (p.Ser325Ter)
|
|
|
|
NM_002076.4(GNS):c.975A>G (p.Ser325=)
|
|
|
|
NM_002076.4(GNS):c.978C>T (p.Asp326=)
|
rs2136245486
|
|
|
NM_002076.4(GNS):c.986A>G (p.Tyr329Cys)
|
rs1338188022
|
|
|
NM_002076.4(GNS):c.994+15T>G
|
rs1592501849
|
|
|
NM_002076.4(GNS):c.994+20A>G
|
|
|
|
NM_002076.4(GNS):c.994+7G>A
|
|
|
|
NM_002076.4(GNS):c.995-13G>A
|
|
|
|
NM_002076.4(GNS):c.995-19T>G
|
|
|
|
NM_002076.4(GNS):c.995-2A>C
|
|
|
|
NM_002076.4(GNS):c.995-4T>G
|
|
|
|
NM_002076.4(GNS):c.995-9T>A
|
rs2136244474
|
|
|
NM_002103.4(GYS1):c.-253delG
|
rs370753423
|
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
|
NM_002103.5(GYS1):c.*143C>G
|
rs995248958
|
|
|
NM_002103.5(GYS1):c.*26G>A
|
rs886054567
|
|
|
NM_002103.5(GYS1):c.*465G>A
|
rs2038501511
|
|
|
NM_002103.5(GYS1):c.*59A>T
|
rs973667510
|
|
|
NM_002103.5(GYS1):c.-157C>T
|
rs748554746
|
|
|
NM_002103.5(GYS1):c.-172T>C
|
rs886054574
|
|
|
NM_002103.5(GYS1):c.-195T>A
|
rs2038974225
|
|
|
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)
|
|
|
|
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
|
rs2038777847
|
|
|
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)
|
|
|
|
NM_002103.5(GYS1):c.101G>T (p.Trp34Leu)
|
rs1131691586
|
|
|
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
|
rs13306415
|
|
|
NM_002103.5(GYS1):c.1042C>A (p.Arg348=)
|
|
|
|
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
|
|
|
|
NM_002103.5(GYS1):c.1062+10G>A
|
rs1025097657
|
|
|
NM_002103.5(GYS1):c.1062+11G>A
|
|
|
|
NM_002103.5(GYS1):c.1062+15A>G
|
|
|
|
NM_002103.5(GYS1):c.1063-17C>T
|
|
|
|
NM_002103.5(GYS1):c.1063-18T>G
|
rs2122505836
|
|
|
NM_002103.5(GYS1):c.1063-19C>G
|
|
|
|
NM_002103.5(GYS1):c.1063-2A>G
|
|
|
|
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
|
|
|
|
NM_002103.5(GYS1):c.1074C>T (p.Ser358=)
|
|
|
|
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
|
rs2038765010
|
|
|
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala)
|
|
|
|
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile)
|
rs1309992388
|
|
|
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
|
rs2038763501
|
|
|
NM_002103.5(GYS1):c.1137C>T (p.Thr379=)
|
rs2122505335
|
|
|
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr)
|
rs1363049243
|
|
|
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
|
rs1172290122
|
|
|
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp)
|
rs886054571
|
|
|
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)
|
rs769788885
|
|
|
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
|
rs868354195
|
|
|
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
|
|
|
|
NM_002103.5(GYS1):c.1164G>A (p.Gln388=)
|
|
|
|
NM_002103.5(GYS1):c.1169+19G>A
|
|
|
|
NM_002103.5(GYS1):c.1169+9C>T
|
rs766614540
|
|
|
NM_002103.5(GYS1):c.1170-13C>T
|
rs886054570
|
|
|
NM_002103.5(GYS1):c.1170-20T>C
|
|
|
|
NM_002103.5(GYS1):c.1170-6C>G
|
|
|
|
NM_002103.5(GYS1):c.1170-6C>T
|
rs903123136
|
|
|
NM_002103.5(GYS1):c.118+10C>T
|
rs2122549543
|
|
|
NM_002103.5(GYS1):c.118+18C>A
|
rs776546579
|
|
|
NM_002103.5(GYS1):c.118+3_118+4delinsAG
|
|
|
|
NM_002103.5(GYS1):c.1185G>A (p.Thr395=)
|
|
|
|
NM_002103.5(GYS1):c.1185G>T (p.Thr395=)
|
rs777198699
|
|
|
NM_002103.5(GYS1):c.119-14G>A
|
|
|
|
NM_002103.5(GYS1):c.119-15C>T
|
|
|
|
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg)
|
rs1600138867
|
|
|
NM_002103.5(GYS1):c.1192_1193insCAAGG (p.Glu398fs)
|
|
|
|
NM_002103.5(GYS1):c.1194A>G (p.Glu398=)
|
|
|
|
NM_002103.5(GYS1):c.1200C>T (p.Phe400=)
|
|
|
|
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
|
|
|
|
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu)
|
rs1056476850
|
|
|
NM_002103.5(GYS1):c.1204del (p.Arg402fs)
|
rs1568619900
|
|
|
NM_002103.5(GYS1):c.1218A>G (p.Glu406=)
|
rs2122491545
|
|
|
NM_002103.5(GYS1):c.1229+15C>G
|
|
|
|
NM_002103.5(GYS1):c.1229+16T>G
|
|
|
|
NM_002103.5(GYS1):c.1229+19G>C
|
rs1286503875
|
|
|
NM_002103.5(GYS1):c.1229+1G>A
|
rs111911126
|
|
|
NM_002103.5(GYS1):c.1230-2A>G
|
|
|
|
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
|
|
|
|
NM_002103.5(GYS1):c.1269A>G (p.Glu423=)
|
|
|
|
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
|
rs2038685440
|
|
|
NM_002103.5(GYS1):c.1288A>C (p.Arg430=)
|
rs1429444927
|
|
|
NM_002103.5(GYS1):c.1299T>C (p.Phe433=)
|
|
|
|
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
|
|
|
|
NM_002103.5(GYS1):c.1308+20G>A
|
|
|
|
NM_002103.5(GYS1):c.1309-17T>C
|
rs2122477632
|
|
|
NM_002103.5(GYS1):c.1309-20C>T
|
|
|
|
NM_002103.5(GYS1):c.1309-8T>C
|
rs1555798424
|
|
|
NM_002103.5(GYS1):c.1309-9del
|
|
|
|
NM_002103.5(GYS1):c.1314G>A (p.Gln438=)
|
rs2122477515
|
|
|
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)
|
rs1600135048
|
|
|
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
|
rs142951866
|
|
|
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
|
rs1600154972
|
|
|
NM_002103.5(GYS1):c.1362C>T (p.Asp454=)
|
|
|
|
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr)
|
|
|
|
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
|
rs2038617042
|
|
|
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
|
rs2038616834
|
|
|
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
|
rs556352989
|
|
|
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
|
|
|
|
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
|
rs1306162963
|
|
|
NM_002103.5(GYS1):c.1423-10del
|
|
|
|
NM_002103.5(GYS1):c.1423-13T>A
|
|
|
|
NM_002103.5(GYS1):c.1423-15_1423-13del
|
|
|
|
NM_002103.5(GYS1):c.1423-20T>A
|
|
|
|
NM_002103.5(GYS1):c.1423-3C>T
|
|
|
|
NM_002103.5(GYS1):c.1423-4C>A
|
rs1197579441
|
|
|
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
|
rs2038611813
|
|
|
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
|
rs764928908
|
|
|
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
|
rs2038611070
|
|
|
NM_002103.5(GYS1):c.1482G>A (p.Glu494=)
|
|
|
|
NM_002103.5(GYS1):c.14G>A (p.Arg5His)
|
|
|
|
NM_002103.5(GYS1):c.150G>A (p.Lys50=)
|
rs1600154925
|
|
|
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
|
|
|
|
NM_002103.5(GYS1):c.1518C>T (p.Pro506=)
|
rs920576632
|
|
|
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys)
|
rs1400682175
|
|
|
NM_002103.5(GYS1):c.1539del (p.Tyr514fs)
|
|
|
|
NM_002103.5(GYS1):c.1549+16dup
|
|
|
|
NM_002103.5(GYS1):c.1549+18G>C
|
|
|
|
NM_002103.5(GYS1):c.1549+19G>C
|
rs2038608930
|
|
|
NM_002103.5(GYS1):c.1550-10C>T
|
rs2038557112
|
|
|
NM_002103.5(GYS1):c.1550-17C>G
|
|
|
|
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu)
|
rs2122462376
|
|
|
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)
|
|
|
|
NM_002103.5(GYS1):c.1602C>T (p.Phe534=)
|
|
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
|
NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter)
|
rs561646250
|
|
|
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)
|
|
|
|
NM_002103.5(GYS1):c.1645+12G>A
|
|
|
|
NM_002103.5(GYS1):c.1645+18T>C
|
|
|
|
NM_002103.5(GYS1):c.1645+1G>A
|
|
|
|
NM_002103.5(GYS1):c.1646-1_1647del
|
rs2122461010
|
|
|
NM_002103.5(GYS1):c.1646-4A>G
|
|
|
|
NM_002103.5(GYS1):c.1646-6C>T
|
|
|
|
NM_002103.5(GYS1):c.1646-9C>G
|
|
|
|
NM_002103.5(GYS1):c.1662C>T (p.Asp554=)
|
|
|
|
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
|
|
|
|
NM_002103.5(GYS1):c.168C>T (p.Asp56=)
|
|
|
|
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
|
|
|
|
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
|
|
|
|
NM_002103.5(GYS1):c.169G>T (p.Glu57Ter)
|
|
|
|
NM_002103.5(GYS1):c.1716C>T (p.Tyr572=)
|
|
|
|
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys)
|
rs770398662
|
|
|
NM_002103.5(GYS1):c.1749C>A (p.Ile583=)
|
rs146698792
|
|
|
NM_002103.5(GYS1):c.1749C>T (p.Ile583=)
|
rs146698792
|
|
|
NM_002103.5(GYS1):c.1763G>A (p.Arg588His)
|
|
|
|
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)
|
|
|
|
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro)
|
rs143040823
|
|
|
NM_002103.5(GYS1):c.1809+13C>A
|
|
|
|
NM_002103.5(GYS1):c.1809+9C>G
|
rs1327230198
|
|
|
NM_002103.5(GYS1):c.1810-11C>T
|
|
|
|
NM_002103.5(GYS1):c.1810-15C>T
|
|
|
|
NM_002103.5(GYS1):c.1810-19C>T
|
rs367581750
|
|
|
NM_002103.5(GYS1):c.1810-20C>G
|
|
|
|
NM_002103.5(GYS1):c.1810-20C>T
|
|
|
|
NM_002103.5(GYS1):c.1810-7C>A
|
rs778919596
|
|
|
NM_002103.5(GYS1):c.1810-7C>T
|
|
|
|
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys)
|
|
|
|
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys)
|
rs760423376
|
|
|
NM_002103.5(GYS1):c.1815T>C (p.Tyr605=)
|
|
|
|
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
|
rs2038528076
|
|
|
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
|
rs767229493
|
|
|
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser)
|
rs957644060
|
|
|
NM_002103.5(GYS1):c.1826G>A (p.Arg609His)
|
|
|
|
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
|
rs773394859
|
|
|
NM_002103.5(GYS1):c.1836G>A (p.Ala612=)
|
|
|
|
NM_002103.5(GYS1):c.1839G>C (p.Leu613=)
|
|
|
|
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)
|
|
|
|
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile)
|
rs2038526450
|
|
|
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu)
|
rs2122454338
|
|
|
NM_002103.5(GYS1):c.1890+1G>T
|
|
|
|
NM_002103.5(GYS1):c.1891-19C>T
|
|
|
|
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
|
rs764135201
|
|
|
NM_002103.5(GYS1):c.1899G>T (p.Gly633=)
|
rs1555797705
|
|
|
NM_002103.5(GYS1):c.1908C>T (p.Tyr636=)
|
rs2122453422
|
|
|
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala)
|
rs1600128045
|
|
|
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
|
|
|
|
NM_002103.5(GYS1):c.192G>A (p.Leu64=)
|
|
|
|
NM_002103.5(GYS1):c.1932G>A (p.Pro644=)
|
rs1600127983
|
|
|
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
|
|
|
|
NM_002103.5(GYS1):c.1962G>A (p.Pro654=)
|
rs1274965475
|
|
|
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)
|
rs1199839572
|
|
|
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
|
rs2038519963
|
|
|
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)
|
|
|
|
NM_002103.5(GYS1):c.198G>A (p.Gly66=)
|
|
|
|
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)
|
|
|
|
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)
|
|
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
|
NM_002103.5(GYS1):c.2001G>T (p.Pro667=)
|
rs1164592345
|
|
|
NM_002103.5(GYS1):c.2007G>A (p.Glu669=)
|
|
|
|
NM_002103.5(GYS1):c.2016C>A (p.Gly672=)
|
rs1213596695
|
|
|
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
|
rs779582211
|
|
|
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
|
rs2038518151
|
|
|
NM_002103.5(GYS1):c.2043C>A (p.Ala681=)
|
|
|
|
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
|
rs1419163800
|
|
|
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)
|
|
|
|
NM_002103.5(GYS1):c.2057G>A (p.Arg686His)
|
rs1049444314
|
|
|
NM_002103.5(GYS1):c.2070A>G (p.Ala690=)
|
rs1307896845
|
|
|
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)
|
|
|
|
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)
|
|
|
|
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs)
|
rs2122451939
|
|
|
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)
|
|
|
|
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
|
rs928549424
|
|
|
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
|
rs1298302518
|
|
|
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu)
|
rs893694315
|
|
|
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met)
|
rs771678316
|
|
|
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
|
rs759776076
|
|
|
NM_002103.5(GYS1):c.2165del (p.Pro722fs)
|
rs757063983
|
|
|
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn)
|
rs1468841188
|
|
|
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)
|
|
|
|
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)
|
rs1053724936
|
|
|
NM_002103.5(GYS1):c.2178C>T (p.Leu726=)
|
rs2122451246
|
|
|
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)
|
|
|
|
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp)
|
rs2122451107
|
|
|
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
|
rs2038513000
|
|
|
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr)
|
rs1600154718
|
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
|
NM_002103.5(GYS1):c.243G>A (p.Glu81=)
|
|
|
|
NM_002103.5(GYS1):c.27G>C (p.Met9Ile)
|
rs1568628315
|
|
|
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu)
|
rs764543224
|
|
|
NM_002103.5(GYS1):c.297C>T (p.Cys99=)
|
|
|
|
NM_002103.5(GYS1):c.300+11G>A
|
rs201417230
|
|
|
NM_002103.5(GYS1):c.300+11G>T
|
rs201417230
|
|
|
NM_002103.5(GYS1):c.300+11del
|
|
|
|
NM_002103.5(GYS1):c.300+7C>G
|
|
|
|
NM_002103.5(GYS1):c.300G>A (p.Lys100=)
|
rs886054572
|
|
|
NM_002103.5(GYS1):c.301-10C>A
|
|
|
|
NM_002103.5(GYS1):c.301-10C>T
|
rs2122525723
|
|
|
NM_002103.5(GYS1):c.301-16C>T
|
|
|
|
NM_002103.5(GYS1):c.301-2A>C
|
rs2122525708
|
|
|
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
|
rs5455
|
|
|
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
|
|
|
|
NM_002103.5(GYS1):c.348C>T (p.Leu116=)
|
rs1294127713
|
|
|
NM_002103.5(GYS1):c.359del (p.Gly120fs)
|
|
|
|
NM_002103.5(GYS1):c.375C>A (p.Ala125=)
|
rs2038857803
|
|
|
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)
|
|
|
|
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu)
|
rs2122550059
|
|
|
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
|
rs758161697
|
|
|
NM_002103.5(GYS1):c.405_420del (p.Asp135fs)
|
rs2122525139
|
|
|
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
|
rs753758690
|
|
|
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr)
|
rs2038856931
|
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
|
NM_002103.5(GYS1):c.432C>T (p.Tyr144=)
|
|
|
|
NM_002103.5(GYS1):c.435C>T (p.Asp145=)
|
|
|
|
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
|
|
|
|
NM_002103.5(GYS1):c.447C>T (p.Asn149=)
|
|
|
|
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr)
|
rs548135246
|
|
|
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
|
|
|
|
NM_002103.5(GYS1):c.483C>T (p.Phe161=)
|
|
|
|
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
|
|
|
|
NM_002103.5(GYS1):c.489T>G (p.Gly163=)
|
|
|
|
NM_002103.5(GYS1):c.492+10G>A
|
rs772808320
|
|
|
NM_002103.5(GYS1):c.492+16C>T
|
|
|
|
NM_002103.5(GYS1):c.492+17A>G
|
|
|
|
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
|
|
|
|
NM_002103.5(GYS1):c.498G>A (p.Leu166=)
|
|
|
|
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
|
|
|
|
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
|
rs1432620791
|
|
|
NM_002103.5(GYS1):c.546G>A (p.Trp182Ter)
|
rs1225603414
|
|
|
NM_002103.5(GYS1):c.568C>G (p.Leu190Val)
|
rs1345491779
|
|
|
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
|
rs2122549955
|
|
|
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp)
|
rs1455481597
|
|
|
NM_002103.5(GYS1):c.583C>T (p.Arg195Ter)
|
|
|
|
NM_002103.5(GYS1):c.601A>G (p.Ile201Val)
|
|
|
|
NM_002103.5(GYS1):c.603C>T (p.Ile201=)
|
rs2122520643
|
|
|
NM_002103.5(GYS1):c.645C>G (p.Ala215=)
|
rs371721154
|
|
|
NM_002103.5(GYS1):c.645C>T (p.Ala215=)
|
rs371721154
|
|
|
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
|
rs141601517
|
|
|
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala)
|
rs2038835260
|
|
|
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
|
rs148365002
|
|
|
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
|
rs771977818
|
|
|
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp)
|
|
|
|
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
|
rs201548356
|
|
|
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
|
rs201548356
|
|
|
NM_002103.5(GYS1):c.678+14G>A
|
|
|
|
NM_002103.5(GYS1):c.678+2T>G
|
rs2122520177
|
|
|
NM_002103.5(GYS1):c.679-18C>T
|
|
|
|
NM_002103.5(GYS1):c.679-19G>A
|
|
|
|
NM_002103.5(GYS1):c.679-4C>G
|
|
|
|
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)
|
|
|
|
NM_002103.5(GYS1):c.681C>T (p.Phe227=)
|
rs2122519311
|
|
|
NM_002103.5(GYS1):c.699_700del (p.Arg236fs)
|
rs1345327745
|
|
|
NM_002103.5(GYS1):c.6T>C (p.Pro2=)
|
rs2038966717
|
|
|
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
|
rs2038830108
|
|
|
NM_002103.5(GYS1):c.714C>A (p.Ile238=)
|
|
|
|
NM_002103.5(GYS1):c.717C>T (p.Tyr239=)
|
rs2038830065
|
|
|
NM_002103.5(GYS1):c.721C>T (p.Arg241Ter)
|
|
|
|
NM_002103.5(GYS1):c.786C>T (p.Thr262=)
|
|
|
|
NM_002103.5(GYS1):c.797C>T (p.Ala266Val)
|
rs1253678206
|
|
|
NM_002103.5(GYS1):c.7_8del (p.Leu3fs)
|
|
|
|
NM_002103.5(GYS1):c.801G>A (p.Gln267=)
|
rs2122518762
|
|
|
NM_002103.5(GYS1):c.816G>A (p.Arg272=)
|
|
|
|
NM_002103.5(GYS1):c.823+11G>A
|
|
|
|
NM_002103.5(GYS1):c.823+11_823+12del
|
rs750236338
|
|
|
NM_002103.5(GYS1):c.823+13C>T
|
|
|
|
NM_002103.5(GYS1):c.823+20C>T
|
rs1343844948
|
|
|
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr)
|
rs2038788050
|
|
|
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
|
rs760885403
|
|
|
NM_002103.5(GYS1):c.867C>A (p.Ala289=)
|
|
|
|
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
|
rs967075263
|
|
|
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
|
|
|
|
NM_002103.5(GYS1):c.907C>T (p.Arg303Ter)
|
rs1269675538
|
|
|
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
|
|
|
|
NM_002103.5(GYS1):c.913C>T (p.Gln305Ter)
|
rs2122509752
|
|
|
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln)
|
rs1183870445
|
|
|
NM_002103.5(GYS1):c.927G>C (p.Arg309=)
|
rs2122509669
|
|
|
NM_002103.5(GYS1):c.929del (p.Gly310fs)
|
rs2122509664
|
|
|
NM_002103.5(GYS1):c.941+10dup
|
|
|
|
NM_002103.5(GYS1):c.941+20A>G
|
|
|
|
NM_002103.5(GYS1):c.941+5G>A
|
|
|
|
NM_002103.5(GYS1):c.942-13G>C
|
|
|
|
NM_002103.5(GYS1):c.942-14del
|
|
|
|
NM_002103.5(GYS1):c.942-20G>T
|
rs368204451
|
|
|
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
|
rs1432327187
|
|
|
NM_002103.5(GYS1):c.981T>C (p.Phe327=)
|
|
|
|
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)
|
|
|
|
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)
|
|
|
|
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro)
|
rs1280294667
|
|
|
NM_002103.5(GYS1):c.996T>C (p.Tyr332=)
|
|
|
|
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
|
|
|
|
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
|
|
|
|
NM_002294.3(LAMP2):c.*1243A>G
|
rs147825361
|
|
|
NM_002294.3(LAMP2):c.*1701dup
|
rs373005118
|
|
|
NM_002294.3(LAMP2):c.*2148AT[8]
|
rs753399289
|
|
|
NM_002294.3(LAMP2):c.*2148AT[9]
|
rs753399289
|
|
|
NM_002294.3(LAMP2):c.*2736T>A
|
rs1057515738
|
|
|
NM_002294.3(LAMP2):c.*2955A>G
|
rs1275264834
|
|
|
NM_002294.3(LAMP2):c.*3031dup
|
rs113549733
|
|
|
NM_002294.3(LAMP2):c.*3347GTTA[1]
|
rs764018077
|
|
|
NM_002294.3(LAMP2):c.*33A>G
|
rs745798436
|
|
|
NM_002294.3(LAMP2):c.*3413T>C
|
rs1180263874
|
|
|
NM_002294.3(LAMP2):c.*3459GTT[3]
|
rs199705754
|
|
|
NM_002294.3(LAMP2):c.*3563T>G
|
rs2058504321
|
|
|
NM_002294.3(LAMP2):c.*3677C>A
|
rs1057515737
|
|
|
NM_002294.3(LAMP2):c.*653A>G
|
rs1057515744
|
|
|
NM_002294.3(LAMP2):c.*692G>A
|
rs1057515743
|
|
|
NM_002294.3(LAMP2):c.-103G>C
|
rs1057515747
|
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|
NM_002294.3(LAMP2):c.-26_-15dup
|
rs1556124241
|
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
|
NM_002294.3(LAMP2):c.-4G>C
|
rs200297370
|
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|
NM_002294.3(LAMP2):c.1002G>A (p.Glu334=)
|
|
|
|
NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)
|
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|
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter)
|
rs1060502305
|
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|
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu)
|
rs1602532154
|
|
|
NM_002294.3(LAMP2):c.1020del (p.Gly341fs)
|
rs727504597
|
|
|
NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)
|
|
|
|
NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)
|
|
|
|
NM_002294.3(LAMP2):c.1037del (p.Asn346fs)
|
rs2058573264
|
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|
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser)
|
rs730880487
|
|
|
NM_002294.3(LAMP2):c.1041del (p.Phe348fs)
|
rs2147278864
|
|
|
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val)
|
rs1057515745
|
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|
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
|
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|
|
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter)
|
rs2147278858
|
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|
NM_002294.3(LAMP2):c.1082del (p.Lys361fs)
|
rs1436664364
|
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NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
|
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|
|
NM_002294.3(LAMP2):c.1089T>C (p.Ser363=)
|
|
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|
NM_002294.3(LAMP2):c.1093+10A>G
|
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NM_002294.3(LAMP2):c.1093+11A>G
|
|
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NM_002294.3(LAMP2):c.1093+14A>T
|
rs2147278803
|
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NM_002294.3(LAMP2):c.1093+1G>A
|
rs727504742
|
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|
NM_002294.3(LAMP2):c.1093+2440_1093+2441del
|
rs2147277541
|
|
|
NM_002294.3(LAMP2):c.1093+2469C>A
|
rs770877964
|
|
|
NM_002294.3(LAMP2):c.1093+2524T>C
|
rs1602530731
|
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NM_002294.3(LAMP2):c.1093+2532G>T
|
rs730880488
|
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|
NM_002294.3(LAMP2):c.1093+5G>A
|
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NM_002294.3(LAMP2):c.1093+7A>G
|
|
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|
NM_002294.3(LAMP2):c.1093+9C>G
|
rs371259269
|
|
|
NM_002294.3(LAMP2):c.1094-19G>A
|
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|
NM_002294.3(LAMP2):c.1094-19G>T
|
rs1353282320
|
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|
NM_002294.3(LAMP2):c.1094-1G>C
|
rs1331940434
|
|
|
NM_002294.3(LAMP2):c.1094-2A>G
|
rs2147273254
|
|
|
NM_002294.3(LAMP2):c.1094-9C>T
|
rs2147273257
|
|
|
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
|
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|
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del)
|
rs730880494
|
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|
NM_002294.3(LAMP2):c.1118A>T (p.Asp373Val)
|
rs769995100
|
|
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NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
|
rs2058522629
|
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NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
|
rs2058522581
|
|
|
NM_002294.3(LAMP2):c.1134C>T (p.Pro378=)
|
rs2147273218
|
|
|
NM_002294.3(LAMP2):c.1140G>T (p.Ala380=)
|
rs1029569080
|
|
|
NM_002294.3(LAMP2):c.1143G>A (p.Val381=)
|
rs2147273199
|
|
|
NM_002294.3(LAMP2):c.1152C>T (p.Ala384=)
|
rs2147273194
|
|
|
NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)
|
|
|
|
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr)
|
rs727504625
|
|
|
NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala)
|
|
|
|
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn)
|
rs1418868953
|
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|
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
|
|
|
|
NM_002294.3(LAMP2):c.1205A>G (p.His402Arg)
|
rs2058522237
|
|
|
NM_002294.3(LAMP2):c.120T>C (p.Thr40=)
|
|
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|
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr)
|
rs1556078130
|
|
|
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)
|
rs2058522120
|
|
|
NM_002294.3(LAMP2):c.121del (p.Cys41fs)
|
rs727504600
|
|
|
NM_002294.3(LAMP2):c.1224G>A (p.Glu408=)
|
|
|
|
NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)
|
|
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|
NM_002294.3(LAMP2):c.124del (p.Leu42fs)
|
rs2147287645
|
|
|
NM_002294.3(LAMP2):c.128_129dup (p.Ala44fs)
|
rs730880344
|
|
|
NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter)
|
|
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|
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter)
|
rs1569371591
|
|
|
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter)
|
rs1271031981
|
|
|
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)
|
rs2147287624
|
|
|
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)
|
rs2147294900
|
|
|
NM_002294.3(LAMP2):c.141G>A (p.Gln47=)
|
|
|
|
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu)
|
rs1921666685
|
|
|
NM_002294.3(LAMP2):c.14del (p.Arg5fs)
|
rs1183994410
|
|
|
NM_002294.3(LAMP2):c.150C>T (p.Phe50=)
|
rs1057521701
|
|
|
NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)
|
|
|
|
NM_002294.3(LAMP2):c.156_157delinsTT (p.Arg53Cys)
|
rs1556114013
|
|
|
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
|
|
|
|
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala)
|
rs2147287602
|
|
|
NM_002294.3(LAMP2):c.183+17A>G
|
rs1052902953
|
|
|
NM_002294.3(LAMP2):c.183+1G>A
|
rs727503120
|
|
|
NM_002294.3(LAMP2):c.183+2T>C
|
rs2147287565
|
|
|
NM_002294.3(LAMP2):c.183+8T>C
|
rs997912625
|
|
|
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter)
|
rs397516736
|
|
|
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter)
|
rs397516736
|
|
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NM_002294.3(LAMP2):c.183_183+4del
|
|
|
|
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)
|
|
|
|
NM_002294.3(LAMP2):c.184-11A>G
|
rs2147286997
|
|
|
NM_002294.3(LAMP2):c.184-18A>G
|
|
|
|
NM_002294.3(LAMP2):c.184-9T>G
|
rs774218764
|
|
|
NM_002294.3(LAMP2):c.190_191del (p.Val64fs)
|
rs1569371330
|
|
|
NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)
|
|
|
|
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro)
|
rs2147286966
|
|
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NM_002294.3(LAMP2):c.1A>C (p.Met1Leu)
|
rs1556124149
|
|
|
NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)
|
|
|
|
NM_002294.3(LAMP2):c.204C>T (p.Asp68=)
|
rs376215728
|
|
|
NM_002294.3(LAMP2):c.205_218del (p.His69fs)
|
rs1602540152
|
|
|
NM_002294.3(LAMP2):c.207T>C (p.His69=)
|
|
|
|
NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)
|
|
|
|
NM_002294.3(LAMP2):c.212C>G (p.Thr71Ser)
|
|
|
|
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
|
|
|
|
NM_002294.3(LAMP2):c.219A>G (p.Thr73=)
|
rs1921054102
|
|
|
NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)
|
|
|
|
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs)
|
rs1921053197
|
|
|
NM_002294.3(LAMP2):c.251A>G (p.Asn84Ser)
|
rs2147286887
|
|
|
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu)
|
rs1921665698
|
|
|
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr)
|
rs1556112678
|
|
|
NM_002294.3(LAMP2):c.261A>G (p.Lys87=)
|
|
|
|
NM_002294.3(LAMP2):c.263T>C (p.Ile88Thr)
|
rs1569371283
|
|
|
NM_002294.3(LAMP2):c.264dup (p.Ala89fs)
|
|
|
|
NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala)
|
rs2147286839
|
|
|
NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)
|
|
|
|
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
|
rs1421127800
|
|
|
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter)
|
rs397516740
|
|
|
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter)
|
rs876657696
|
|
|
NM_002294.3(LAMP2):c.2T>C (p.Met1Thr)
|
|
|
|
NM_002294.3(LAMP2):c.300G>C (p.Ala100=)
|
rs765548221
|
|
|
NM_002294.3(LAMP2):c.300G>T (p.Ala100=)
|
rs765548221
|
|
|
NM_002294.3(LAMP2):c.30G>C (p.Pro10=)
|
|
|
|
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
|
|
|
|
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr)
|
rs1305798857
|
|
|
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser)
|
rs1305798857
|
|
|
NM_002294.3(LAMP2):c.327T>A (p.Tyr109Ter)
|
rs1397410765
|
|
|
NM_002294.3(LAMP2):c.327T>C (p.Tyr109=)
|
rs1397410765
|
|
|
NM_002294.3(LAMP2):c.331A>G (p.Ile111Val)
|
rs762218821
|
|
|
NM_002294.3(LAMP2):c.333T>C (p.Ile111=)
|
rs397516742
|
|
|
NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)
|
|
|
|
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg)
|
rs147369153
|
|
|
NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)
|
|
|
|
NM_002294.3(LAMP2):c.34dup (p.Ser12fs)
|
rs1921663802
|
|
|
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=)
|
rs1602539967
|
|
|
NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro)
|
|
|
|
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn)
|
rs730880480
|
|
|
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs)
|
rs1436181133
|
|
|
NM_002294.3(LAMP2):c.370ACA[1] (p.Thr125del)
|
rs760602347
|
|
|
NM_002294.3(LAMP2):c.372A>G (p.Thr124=)
|
|
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
|
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
|
rs1200950486
|
|
|
NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)
|
|
|
|
NM_002294.3(LAMP2):c.387T>C (p.Ala129=)
|
|
|
|
NM_002294.3(LAMP2):c.391del (p.Asp131fs)
|
rs2147286730
|
|
|
NM_002294.3(LAMP2):c.393T>C (p.Asp131=)
|
|
|
|
NM_002294.3(LAMP2):c.397+16del
|
|
|
|
NM_002294.3(LAMP2):c.397+19T>C
|
|
|
|
NM_002294.3(LAMP2):c.398-14A>G
|
|
|
|
NM_002294.3(LAMP2):c.398G>A (p.Gly133Glu)
|
rs2147283120
|
|
|
NM_002294.3(LAMP2):c.3G>A (p.Met1Ile)
|
rs2147294924
|
|
|
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu)
|
rs2147283117
|
|
|
NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly)
|
|
|
|
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter)
|
rs1569369940
|
|
|
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val)
|
rs1602536486
|
|
|
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
|
rs2058610678
|
|
|
NM_002294.3(LAMP2):c.425C>T (p.Ala142Val)
|
|
|
|
NM_002294.3(LAMP2):c.426C>T (p.Ala142=)
|
rs2147283103
|
|
|
NM_002294.3(LAMP2):c.429C>T (p.Ile143=)
|
rs1602536478
|
|
|
NM_002294.3(LAMP2):c.42C>G (p.Leu14=)
|
rs727503122
|
|
|
NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs)
|
rs2147283096
|
|
|
NM_002294.3(LAMP2):c.440T>A (p.Leu147Ter)
|
rs137852527
|
|
|
NM_002294.3(LAMP2):c.449T>A (p.Leu150His)
|
|
|
|
NM_002294.3(LAMP2):c.450T>C (p.Leu150=)
|
rs2147283088
|
|
|
NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)
|
|
|
|
NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr)
|
rs2058610425
|
|
|
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe)
|
rs2058610425
|
|
|
NM_002294.3(LAMP2):c.45T>A (p.Val15=)
|
|
|
|
NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)
|
|
|
|
NM_002294.3(LAMP2):c.463del (p.Ser155fs)
|
rs193922649
|
|
|
NM_002294.3(LAMP2):c.465T>C (p.Ser155=)
|
|
|
|
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
|
rs1385890053
|
|
|
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter)
|
rs1385890053
|
|
|
NM_002294.3(LAMP2):c.490G>A (p.Val164Ile)
|
|
|
|
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile)
|
rs777718603
|
|
|
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter)
|
rs104894857
|
|
|
NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)
|
|
|
|
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro)
|
rs775432228
|
|
|
NM_002294.3(LAMP2):c.533A>G (p.Gln178Arg)
|
rs775432228
|
|
|
NM_002294.3(LAMP2):c.546G>T (p.Val182=)
|
rs2147282968
|
|
|
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs)
|
rs1060502302
|
|
|
NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter)
|
rs2147294814
|
|
|
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser)
|
rs1207197859
|
|
|
NM_002294.3(LAMP2):c.556+10G>A
|
|
|
|
NM_002294.3(LAMP2):c.557-10C>G
|
|
|
|
NM_002294.3(LAMP2):c.557-11G>A
|
|
|
|
NM_002294.3(LAMP2):c.557-20T>A
|
rs2147282562
|
|
|
NM_002294.3(LAMP2):c.562C>T (p.Leu188=)
|
|
|
|
NM_002294.3(LAMP2):c.565del (p.Cys189fs)
|
|
|
|
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
|
rs2058605695
|
|
|
NM_002294.3(LAMP2):c.576C>T (p.Asp192=)
|
rs1569369724
|
|
|
NM_002294.3(LAMP2):c.579A>G (p.Lys193=)
|
|
|
|
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn)
|
rs1033442580
|
|
|
NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)
|
|
|
|
NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)
|
|
|
|
NM_002294.3(LAMP2):c.582T>C (p.Thr194=)
|
rs1602535931
|
|
|
NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs)
|
|
|
|
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs)
|
rs730880492
|
|
|
NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)
|
|
|
|
NM_002294.3(LAMP2):c.589G>A (p.Val197Met)
|
|
|
|
NM_002294.3(LAMP2):c.589G>C (p.Val197Leu)
|
rs1360458497
|
|
|
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
|
|
|
|
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
|
rs1921661568
|
|
|
NM_002294.3(LAMP2):c.600C>T (p.Thr200=)
|
rs2147282502
|
|
|
NM_002294.3(LAMP2):c.609C>A (p.Thr203=)
|
rs1602535881
|
|
|
NM_002294.3(LAMP2):c.614_615del (p.Val205fs)
|
rs2058605108
|
|
|
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu)
|
rs1602535864
|
|
|
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
|
rs2058604992
|
|
|
NM_002294.3(LAMP2):c.636T>C (p.Pro212=)
|
|
|
|
NM_002294.3(LAMP2):c.64+15C>A
|
|
|
|
NM_002294.3(LAMP2):c.64+16C>T
|
rs780307352
|
|
|
NM_002294.3(LAMP2):c.64+1G>C
|
rs957313991
|
|
|
NM_002294.3(LAMP2):c.64+20C>T
|
|
|
|
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
|
rs2058604823
|
|
|
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter)
|
rs2147282434
|
|
|
NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter)
|
rs2147294800
|
|
|
NM_002294.3(LAMP2):c.65-1G>C
|
rs730880496
|
|
|
NM_002294.3(LAMP2):c.65-20_65-18del
|
|
|
|
NM_002294.3(LAMP2):c.65-2A>G
|
rs397516743
|
|
|
NM_002294.3(LAMP2):c.65-6A>G
|
rs1921113552
|
|
|
NM_002294.3(LAMP2):c.65-6A>T
|
|
|
|
NM_002294.3(LAMP2):c.653del (p.Pro218fs)
|
|
|
|
NM_002294.3(LAMP2):c.659dup (p.Gly221fs)
|
rs1556101640
|
|
|
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
|
|
|
|
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
|
|
|
|
NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn)
|
|
|
|
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)
|
rs1556101523
|
|
|
NM_002294.3(LAMP2):c.697C>T (p.Leu233=)
|
|
|
|
NM_002294.3(LAMP2):c.6G>A (p.Val2=)
|
rs2147294923
|
|
|
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
|
rs2058604458
|
|
|
NM_002294.3(LAMP2):c.710T>C (p.Met237Thr)
|
rs2147282386
|
|
|
NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)
|
|
|
|
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val)
|
rs730880481
|
|
|
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)
|
rs1556101420
|
|
|
NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)
|
|
|
|
NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)
|
|
|
|
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
|
rs1288096114
|
|
|
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
|
rs1246477767
|
|
|
NM_002294.3(LAMP2):c.737A>G (p.Asp246Gly)
|
rs730880482
|
|
|
NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)
|
|
|
|
NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)
|
|
|
|
NM_002294.3(LAMP2):c.741+10_741+11insTT
|
|
|
|
NM_002294.3(LAMP2):c.741+13A>G
|
|
|
|
NM_002294.3(LAMP2):c.741+1G>A
|
rs1251075016
|
|
|
NM_002294.3(LAMP2):c.741+2T>A
|
rs2147282355
|
|
|
NM_002294.3(LAMP2):c.741+6G>A
|
|
|
|
NM_002294.3(LAMP2):c.741+7G>T
|
rs2147282351
|
|
|
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
|
|
|
|
NM_002294.3(LAMP2):c.742-11T>C
|
|
|
|
NM_002294.3(LAMP2):c.742-16TCT[2]
|
rs730880476
|
|
|
NM_002294.3(LAMP2):c.742-7_742-5del
|
rs779710402
|
|
|
NM_002294.3(LAMP2):c.742-8T>C
|
|
|
|
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
|
rs2058596707
|
|
|
NM_002294.3(LAMP2):c.753dup (p.Ile252fs)
|
|
|
|
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr)
|
rs141541387
|
|
|
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
|
|
|
|
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer)
|
rs2058596487
|
|
|
NM_002294.3(LAMP2):c.768del (p.Asn257fs)
|
rs2147281483
|
|
|
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser)
|
rs1569369275
|
|
|
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg)
|
rs111703410
|
|
|
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
|
|
|
|
NM_002294.3(LAMP2):c.786A>G (p.Thr262=)
|
|
|
|
NM_002294.3(LAMP2):c.788del (p.Gly263fs)
|
rs1060502303
|
|
|
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter)
|
rs730880483
|
|
|
NM_002294.3(LAMP2):c.807T>C (p.Thr269=)
|
rs1211870519
|
|
|
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
|
rs1449153826
|
|
|
NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)
|
|
|
|
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
|
rs1569369217
|
|
|
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)
|
rs1569369217
|
|
|
NM_002294.3(LAMP2):c.823A>C (p.Asn275His)
|
rs143699208
|
|
|
NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro)
|
rs2147281387
|
|
|
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys)
|
rs397516748
|
|
|
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter)
|
rs1569369194
|
|
|
NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)
|
|
|
|
NM_002294.3(LAMP2):c.851_852del (p.Phe284fs)
|
rs727504648
|
|
|
NM_002294.3(LAMP2):c.864+18T>C
|
rs2147281341
|
|
|
NM_002294.3(LAMP2):c.864+1G>T
|
rs727503119
|
|
|
NM_002294.3(LAMP2):c.864+3_864+6del
|
rs397516751
|
|
|
NM_002294.3(LAMP2):c.864+4A>G
|
rs2147281356
|
|
|
NM_002294.3(LAMP2):c.864+5G>C
|
rs1352584474
|
|
|
NM_002294.3(LAMP2):c.864+5G>T
|
rs1352584474
|
|
|
NM_002294.3(LAMP2):c.864+6T>C
|
rs2147281347
|
|
|
NM_002294.3(LAMP2):c.864+7A>G
|
|
|
|
NM_002294.3(LAMP2):c.864+8A>T
|
rs923254412
|
|
|
NM_002294.3(LAMP2):c.864G>A (p.Val288=)
|
rs2147281364
|
|
|
NM_002294.3(LAMP2):c.865-12dup
|
rs746330494
|
|
|
NM_002294.3(LAMP2):c.865-18A>T
|
|
|
|
NM_002294.3(LAMP2):c.865-4del
|
rs781417368
|
|
|
NM_002294.3(LAMP2):c.865-8T>C
|
rs2147279553
|
|
|
NM_002294.3(LAMP2):c.865-8del
|
rs746330494
|
|
|
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
|
|
|
|
NM_002294.3(LAMP2):c.876C>T (p.Asn292=)
|
|
|
|
NM_002294.3(LAMP2):c.877C>A (p.Arg293=)
|
rs727503118
|
|
|
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)
|
rs727503118
|
|
|
NM_002294.3(LAMP2):c.878G>A (p.Arg293Gln)
|
rs1224940162
|
|
|
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs)
|
rs1327363415
|
|
|
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro)
|
rs730880486
|
|
|
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg)
|
rs730880486
|
|
|
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
|
|
|
|
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
|
|
|
|
NM_002294.3(LAMP2):c.906C>T (p.Ser302=)
|
|
|
|
NM_002294.3(LAMP2):c.907A>G (p.Met303Val)
|
rs768369360
|
|
|
NM_002294.3(LAMP2):c.907A>T (p.Met303Leu)
|
|
|
|
NM_002294.3(LAMP2):c.90A>G (p.Glu30=)
|
rs1602540965
|
|
|
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter)
|
rs876657648
|
|
|
NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp)
|
rs2147279488
|
|
|
NM_002294.3(LAMP2):c.928+11C>T
|
|
|
|
NM_002294.3(LAMP2):c.928+18C>T
|
|
|
|
NM_002294.3(LAMP2):c.928+3A>G
|
rs2147279469
|
|
|
NM_002294.3(LAMP2):c.928+3A>T
|
rs2147279469
|
|
|
NM_002294.3(LAMP2):c.928+4A>G
|
rs1602532732
|
|
|
NM_002294.3(LAMP2):c.928+5G>A
|
|
|
|
NM_002294.3(LAMP2):c.928+8A>T
|
|
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
|
NM_002294.3(LAMP2):c.928G>C (p.Val310Leu)
|
rs104894858
|
|
|
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
|
rs104894858
|
|
|
NM_002294.3(LAMP2):c.929-12T>C
|
rs2147278991
|
|
|
NM_002294.3(LAMP2):c.929-13C>G
|
|
|
|
NM_002294.3(LAMP2):c.929-197_1070del
|
rs2147278850
|
|
|
NM_002294.3(LAMP2):c.929-1G>A
|
rs727504262
|
|
|
NM_002294.3(LAMP2):c.929-4G>C
|
|
|
|
NM_002294.3(LAMP2):c.929-9del
|
rs1338648665
|
|
|
NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)
|
|
|
|
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
|
|
|
|
NM_002294.3(LAMP2):c.955del (p.Ser319fs)
|
rs2147278957
|
|
|
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)
|
rs104894859
|
|
|
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter)
|
rs1060502306
|
|
|
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
|
|
|
|
NM_002294.3(LAMP2):c.966T>C (p.Asp322=)
|
rs2147278937
|
|
|
NM_002294.3(LAMP2):c.969C>A (p.Ala323=)
|
rs1602532246
|
|
|
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser)
|
rs866736614
|
|
|
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
|
|
|
|
NM_002294.3(LAMP2):c.973dup (p.Leu325fs)
|
rs1556092459
|
|
|
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs)
|
|
|
|
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
|
|
|
|
NM_002294.3(LAMP2):c.987T>C (p.Tyr329=)
|
|
|
|
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
|
|
|
|
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu)
|
rs1057515746
|
|
|
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
|
|
|
|
NM_002299.4(LCT):c.*193C>T
|
rs1189424123
|
|
|
NM_002299.4(LCT):c.*239C>T
|
rs16832012
|
|
|
NM_002299.4(LCT):c.*251G>A
|
rs886054860
|
|
|
NM_002299.4(LCT):c.*442GT[1]
|
rs140433552
|
|
|
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys)
|
rs886054868
|
|
|
NM_002299.4(LCT):c.122A>C (p.His41Pro)
|
rs757541640
|
|
|
NM_002299.4(LCT):c.1692_1696del (p.Val565fs)
|
rs386833832
|
|
|
NM_002299.4(LCT):c.2349C>T (p.Leu783=)
|
rs2077740890
|
|
|
NM_002299.4(LCT):c.2718C>T (p.Asp906=)
|
rs1454730571
|
|
|
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)
|
rs2077714482
|
|
|
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)
|
rs201881537
|
|
|
NM_002299.4(LCT):c.2983C>T (p.His995Tyr)
|
rs1261476069
|
|
|
NM_002299.4(LCT):c.318C>T (p.Asp106=)
|
rs34307240
|
|
|
NM_002299.4(LCT):c.3390G>A (p.Glu1130=)
|
rs886054865
|
|
|
NM_002299.4(LCT):c.3532C>T (p.Leu1178=)
|
rs886054864
|
|
|
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)
|
rs886054863
|
|
|
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)
|
rs138785223
|
|
|
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)
|
rs2077699049
|
|
|
NM_002299.4(LCT):c.3804C>A (p.Pro1268=)
|
rs748206266
|
|
|
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=)
|
rs557321611
|
|
|
NM_002299.4(LCT):c.4173+6_4173+8del
|
rs375300532
|
|
|
NM_002299.4(LCT):c.4239A>G (p.Pro1413=)
|
rs752925060
|
|
|
NM_002299.4(LCT):c.4363C>T (p.Arg1455Cys)
|
rs763006562
|
|
|
NM_002299.4(LCT):c.4404G>A (p.Ala1468=)
|
rs151321629
|
|
|
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)
|
rs386833834
|
|
|
NM_002299.4(LCT):c.4434T>C (p.Asp1478=)
|
rs778761405
|
|
|
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)
|
rs139591272
|
|
|
NM_002299.4(LCT):c.4664-10A>G
|
rs1575334525
|
|
|
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=)
|
rs886054862
|
|
|
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)
|
rs386833835
|
|
|
NM_002299.4(LCT):c.4866+2T>G
|
|
|
|
NM_002299.4(LCT):c.4950C>A (p.Ser1650Arg)
|
rs1312031160
|
|
|
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)
|
rs386833836
|
|
|
NM_002299.4(LCT):c.5387del (p.Asp1796fs)
|
rs386833837
|
|
|
NM_002299.4(LCT):c.54G>C (p.Trp18Cys)
|
rs886054870
|
|
|
NM_002299.4(LCT):c.5563+7T>C
|
rs2077518427
|
|
|
NM_002299.4(LCT):c.5768C>A (p.Pro1923Gln)
|
rs114828879
|
|
|
NM_002299.4(LCT):c.621C>T (p.His207=)
|
rs369174474
|
|
|
NM_002299.4(LCT):c.653_654del (p.Ser218fs)
|
rs386833838
|
|
|
NM_002299.4(LCT):c.655G>A (p.Val219Ile)
|
rs3754689
|
|
|
NM_002299.4(LCT):c.729C>G (p.Val243=)
|
rs3816088
|
|
|
NM_002299.4(LCT):c.804G>C (p.Gln268His)
|
rs121908937
|
|
|
NM_002300.7(LDHB):c.-109C>T
|
rs886049167
|
|
|
NM_002300.8(LDHB):c.*73T>C
|
rs886049163
|
|
|
NM_002300.8(LDHB):c.-34A>G
|
rs1938903896
|
|
|
NM_002300.8(LDHB):c.-71C>G
|
rs977721300
|
|
|
NM_002300.8(LDHB):c.130-3_130-2del
|
rs200371155
|
|
|
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)
|
rs1938543300
|
|
|
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)
|
rs1938542112
|
|
|
NM_002300.8(LDHB):c.385A>C (p.Ser129Arg)
|
rs118203896
|
|
|
NM_002300.8(LDHB):c.528T>A (p.Ala176=)
|
rs886049164
|
|
|
NM_002300.8(LDHB):c.843G>A (p.Met281Ile)
|
rs150060988
|
|
|
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter)
|
rs1565623986
|
|
|
NM_002300.8(LDHB):c.973T>C (p.Trp325Arg)
|
rs267607212
|
|
|
NM_002500.4(NEUROD1):c.*1486A>G
|
rs1688569851
|
|
|
NM_002500.5(NEUROD1):c.*1125T>G
|
rs1688578868
|
|
|
NM_002500.5(NEUROD1):c.*1A>G
|
|
|
|
NM_002500.5(NEUROD1):c.*463del
|
rs886055325
|
|
|
NM_002500.5(NEUROD1):c.*608T>C
|
rs1688595150
|
|
|
NM_002500.5(NEUROD1):c.*617C>T
|
rs886055323
|
|
|
NM_002500.5(NEUROD1):c.*640_*641dup
|
rs886055322
|
|
|
NM_002500.5(NEUROD1):c.*642_*643del
|
rs886055321
|
|
|
NM_002500.5(NEUROD1):c.*674_*677dup
|
rs374172497
|
|
|
NM_002500.5(NEUROD1):c.*676_*677dup
|
rs374172497
|
|
|
NM_002500.5(NEUROD1):c.*677dup
|
rs374172497
|
|
|
NM_002500.5(NEUROD1):c.*75G>T
|
rs1688606060
|
|
|
NM_002500.5(NEUROD1):c.*773A>C
|
rs886055319
|
|
|
NM_002500.5(NEUROD1):c.*795T>C
|
rs946367001
|
|
|
NM_002500.5(NEUROD1):c.*819C>G
|
rs1688587199
|
|
|
NM_002500.5(NEUROD1):c.*859C>A
|
rs752652027
|
|
|
NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile)
|
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
|
|
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=)
|
rs116321775
|
|
|
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=)
|
rs116321775
|
|
|
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)
|
rs553756272
|
|
|
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=)
|
rs2105595687
|
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
|
NM_002500.5(NEUROD1):c.309C>G (p.Arg103=)
|
rs149703259
|
|
|
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg)
|
rs376752352
|
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
|
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp)
|
rs201174472
|
|
|
NM_002500.5(NEUROD1):c.616dup (p.His206fs)
|
rs387906384
|
|
|
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro)
|
rs761826783
|
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
|
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)
|
rs886055327
|
|
|
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)
|
rs1559135056
|
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
|
NM_002591.4(PCK1):c.*202G>A
|
rs886056795
|
|
|
NM_002591.4(PCK1):c.*349AT[4]
|
rs201179319
|
|
|
NM_002591.4(PCK1):c.*349AT[6]
|
rs201179319
|
|
|
NM_002591.4(PCK1):c.*357_*360del
|
rs147972610
|
|
|
NM_002591.4(PCK1):c.*357_*362del
|
rs760440639
|
|
|
NM_002591.4(PCK1):c.*358TG[14]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[15]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[16]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[17]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[19]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[20]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[21]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*358TG[24]
|
rs141075201
|
|
|
NM_002591.4(PCK1):c.*51G>C
|
rs6025630
|
|
|
NM_002591.4(PCK1):c.*608A>C
|
rs2070206106
|
|
|
NM_002591.4(PCK1):c.-40-12T>C
|
rs2070139661
|
|
|
NM_002591.4(PCK1):c.-54C>T
|
rs886056794
|
|
|
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp)
|
rs368426390
|
|
|
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met)
|
rs762446688
|
|
|
NM_002591.4(PCK1):c.1674C>T (p.Ile558=)
|
rs115841045
|
|
|
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)
|
rs1256902604
|
|
|
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu)
|
rs147273759
|
|
|
NM_002591.4(PCK1):c.474C>T (p.Ile158=)
|
rs764002893
|
|
|
NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)
|
|
|
|
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)
|
rs139902878
|
|
|
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)
|
rs763473369
|
|
|
NM_002591.4(PCK1):c.824del (p.Gly275fs)
|
rs748437548
|
|
|
NM_002591.4(PCK1):c.831G>A (p.Lys277=)
|
rs371044564
|
|
|
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)
|
rs200817092
|
|
|
NM_002637.4(PHKA1):c.*1375A>G
|
rs142925152
|
|
|
NM_002637.4(PHKA1):c.*2056T>A
|
rs2052298372
|
|
|
NM_002637.4(PHKA1):c.*503C>T
|
rs1433119416
|
|
|
NM_002637.4(PHKA1):c.*772C>T
|
rs2052317488
|
|
|
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu)
|
|
|
|
NM_002637.4(PHKA1):c.1041+19A>T
|
|
|
|
NM_002637.4(PHKA1):c.1041+20G>A
|
|
|
|
NM_002637.4(PHKA1):c.1042-20T>G
|
|
|
|
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys)
|
|
|
|
NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)
|
|
|
|
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg)
|
rs2147761614
|
|
|
NM_002637.4(PHKA1):c.1092T>C (p.Asn364=)
|
|
|
|
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
|
|
|
|
NM_002637.4(PHKA1):c.1137+13G>A
|
|
|
|
NM_002637.4(PHKA1):c.1137+17C>T
|
|
|
|
NM_002637.4(PHKA1):c.1138-20C>T
|
|
|
|
NM_002637.4(PHKA1):c.1176A>C (p.Arg392=)
|
|
|
|
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn)
|
|
|
|
NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)
|
|
|
|
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe)
|
rs2147760351
|
|
|
NM_002637.4(PHKA1):c.1245+20C>A
|
|
|
|
NM_002637.4(PHKA1):c.126T>C (p.Ala42=)
|
|
|
|
NM_002637.4(PHKA1):c.1275C>T (p.Pro425=)
|
|
|
|
NM_002637.4(PHKA1):c.1276C>T (p.Leu426=)
|
|
|
|
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys)
|
rs2147757116
|
|
|
NM_002637.4(PHKA1):c.1285A>C (p.Arg429=)
|
|
|
|
NM_002637.4(PHKA1):c.1296T>A (p.Thr432=)
|
|
|
|
NM_002637.4(PHKA1):c.1308C>T (p.Pro436=)
|
|
|
|
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1325-5T>C
|
|
|
|
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr)
|
|
|
|
NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)
|
|
|
|
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val)
|
|
|
|
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=)
|
rs782491320
|
|
|
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
|
|
|
|
NM_002637.4(PHKA1):c.1431T>A (p.Arg477=)
|
|
|
|
NM_002637.4(PHKA1):c.1459+19C>T
|
|
|
|
NM_002637.4(PHKA1):c.1459+6_1459+8del
|
rs782679415
|
|
|
NM_002637.4(PHKA1):c.1460-12A>G
|
|
|
|
NM_002637.4(PHKA1):c.1460-15T>A
|
|
|
|
NM_002637.4(PHKA1):c.1460-15T>C
|
|
|
|
NM_002637.4(PHKA1):c.1460-17T>C
|
|
|
|
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
|
rs2054403951
|
|
|
NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)
|
|
|
|
NM_002637.4(PHKA1):c.1536C>T (p.Asp512=)
|
|
|
|
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
|
|
|
|
NM_002637.4(PHKA1):c.1569+16T>A
|
|
|
|
NM_002637.4(PHKA1):c.1569+19A>G
|
|
|
|
NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)
|
|
|
|
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp)
|
|
|
|
NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)
|
|
|
|
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys)
|
|
|
|
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp)
|
|
|
|
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
|
|
|
|
NM_002637.4(PHKA1):c.169T>C (p.Leu57=)
|
|
|
|
NM_002637.4(PHKA1):c.1715-16T>C
|
|
|
|
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr)
|
|
|
|
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met)
|
|
|
|
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
|
rs2053084669
|
|
|
NM_002637.4(PHKA1):c.1749G>C (p.Leu583=)
|
|
|
|
NM_002637.4(PHKA1):c.174C>T (p.Gly58=)
|
|
|
|
NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
|
|
|
|
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
|
|
|
|
NM_002637.4(PHKA1):c.1776G>T (p.Gly592=)
|
|
|
|
NM_002637.4(PHKA1):c.1793+14A>G
|
|
|
|
NM_002637.4(PHKA1):c.1793+18A>G
|
|
|
|
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
|
|
|
|
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys)
|
rs2054403362
|
|
|
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
|
|
|
|
NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
|
|
|
|
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
|
|
|
|
NM_002637.4(PHKA1):c.1961-14C>G
|
|
|
|
NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
|
|
|
|
NM_002637.4(PHKA1):c.198C>T (p.Asp66=)
|
|
|
|
NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
|
|
|
|
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser)
|
rs2052967940
|
|
|
NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
|
|
|
|
NM_002637.4(PHKA1):c.2007G>A (p.Ala669=)
|
|
|
|
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
|
|
|
|
NM_002637.4(PHKA1):c.2019C>G (p.Pro673=)
|
|
|
|
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp)
|
rs1247275284
|
|
|
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
|
|
|
|
NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn)
|
rs1064796509
|
|
|
NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
|
|
|
|
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
|
|
|
|
NM_002637.4(PHKA1):c.2102C>T (p.Ser701Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2137+13G>A
|
|
|
|
NM_002637.4(PHKA1):c.2138-16T>C
|
|
|
|
NM_002637.4(PHKA1):c.2138-5T>C
|
|
|
|
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
|
|
|
|
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
|
|
|
|
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
|
|
|
|
NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn)
|
|
|
|
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
|
|
|
|
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg)
|
rs2147705472
|
|
|
NM_002637.4(PHKA1):c.2229+15G>A
|
|
|
|
NM_002637.4(PHKA1):c.2230-18T>C
|
|
|
|
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)
|
rs2147704831
|
|
|
NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
|
|
|
|
NM_002637.4(PHKA1):c.229T>C (p.Leu77=)
|
rs2054402218
|
|
|
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val)
|
|
|
|
NM_002637.4(PHKA1):c.2369+12A>G
|
|
|
|
NM_002637.4(PHKA1):c.2369+17A>G
|
|
|
|
NM_002637.4(PHKA1):c.237+16A>G
|
|
|
|
NM_002637.4(PHKA1):c.2370-13G>A
|
|
|
|
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
|
|
|
|
NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
|
|
|
|
NM_002637.4(PHKA1):c.238-14A>C
|
|
|
|
NM_002637.4(PHKA1):c.238-2A>T
|
|
|
|
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
|
|
|
|
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=)
|
|
|
|
NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2439G>C (p.Leu813=)
|
rs2052803141
|
|
|
NM_002637.4(PHKA1):c.2460dup (p.Arg821fs)
|
|
|
|
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
|
|
|
|
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
|
|
|
|
NM_002637.4(PHKA1):c.2526+5T>C
|
rs1556259531
|
|
|
NM_002637.4(PHKA1):c.2526+6A>G
|
|
|
|
NM_002637.4(PHKA1):c.2527-12A>G
|
|
|
|
NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)
|
|
|
|
NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
|
|
|
|
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs)
|
rs2052776972
|
|
|
NM_002637.4(PHKA1):c.2606+7A>G
|
|
|
|
NM_002637.4(PHKA1):c.2607-15T>G
|
rs2147681346
|
|
|
NM_002637.4(PHKA1):c.2607-7T>C
|
|
|
|
NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2613G>A (p.Leu871=)
|
|
|
|
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
|
|
|
|
NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
|
|
|
|
NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
|
|
|
|
NM_002637.4(PHKA1):c.2667C>T (p.Ser889=)
|
|
|
|
NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)
|
|
|
|
NM_002637.4(PHKA1):c.2685+13G>A
|
|
|
|
NM_002637.4(PHKA1):c.2685+17A>G
|
|
|
|
NM_002637.4(PHKA1):c.2685+8_2685+10del
|
rs782176924
|
|
|
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
|
|
|
|
NM_002637.4(PHKA1):c.2697A>G (p.Val899=)
|
|
|
|
NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile)
|
rs1603254167
|
|
|
NM_002637.4(PHKA1):c.2739T>G (p.Ala913=)
|
|
|
|
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
|
|
|
|
NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
|
|
|
|
NM_002637.4(PHKA1):c.2751A>T (p.Arg917=)
|
|
|
|
NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)
|
|
|
|
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
|
|
|
|
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
|
rs2054264983
|
|
|
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
|
|
|
|
NM_002637.4(PHKA1):c.280A>C (p.Arg94=)
|
|
|
|
NM_002637.4(PHKA1):c.2815+15A>G
|
|
|
|
NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
|
|
|
|
NM_002637.4(PHKA1):c.285+5G>A
|
|
|
|
NM_002637.4(PHKA1):c.285+7T>C
|
|
|
|
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)
|
rs782602098
|
|
|
NM_002637.4(PHKA1):c.286-9T>C
|
|
|
|
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
|
|
|
|
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
|
|
|
|
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
|
|
|
|
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
|
|
|
|
NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
|
|
|
|
NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
|
|
|
|
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
|
|
|
|
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
|
|
|
|
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln)
|
rs1603278200
|
|
|
NM_002637.4(PHKA1):c.3006C>A (p.Ile1002=)
|
|
|
|
NM_002637.4(PHKA1):c.3024G>A (p.Glu1008=)
|
|
|
|
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=)
|
rs2147674398
|
|
|
NM_002637.4(PHKA1):c.303C>T (p.Ser101=)
|
|
|
|
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=)
|
rs2147674384
|
|
|
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
|
|
|
|
NM_002637.4(PHKA1):c.3072+3G>A
|
|
|
|
NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
|
|
|
|
NM_002637.4(PHKA1):c.3081A>T (p.Gly1027=)
|
|
|
|
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
|
|
|
|
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
|
|
|
|
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
|
|
|
|
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
|
|
|
|
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
|
|
|
|
NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)
|
|
|
|
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His)
|
|
|
|
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly)
|
|
|
|
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg)
|
rs2147825866
|
|
|
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3243+7A>G
|
|
|
|
NM_002637.4(PHKA1):c.3244-12del
|
|
|
|
NM_002637.4(PHKA1):c.3244-12dup
|
|
|
|
NM_002637.4(PHKA1):c.3244-19T>C
|
|
|
|
NM_002637.4(PHKA1):c.3244-29_3244-15del
|
|
|
|
NM_002637.4(PHKA1):c.3255T>G (p.Leu1085=)
|
|
|
|
NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
|
|
|
|
NM_002637.4(PHKA1):c.3297+11C>G
|
|
|
|
NM_002637.4(PHKA1):c.3298-7A>G
|
|
|
|
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
|
|
|
|
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=)
|
|
|
|
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr)
|
rs782034813
|
|
|
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
|
|
|
|
NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=)
|
|
|
|
NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=)
|
|
|
|
NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)
|
|
|
|
NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)
|
|
|
|
NM_002637.4(PHKA1):c.3498+1G>C
|
|
|
|
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=)
|
rs782682520
|
|
|
NM_002637.4(PHKA1):c.3510C>T (p.Gly1170=)
|
|
|
|
NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
|
|
|
|
NM_002637.4(PHKA1):c.3526T>C (p.Leu1176=)
|
|
|
|
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
|
rs2052331052
|
|
|
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
|
|
|
|
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His)
|
rs2147636584
|
|
|
NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
|
|
|
|
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
|
rs2052328981
|
|
|
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=)
|
|
|
|
NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=)
|
|
|
|
NM_002637.4(PHKA1):c.3657C>T (p.Ile1219=)
|
|
|
|
NM_002637.4(PHKA1):c.381T>C (p.Asp127=)
|
|
|
|
NM_002637.4(PHKA1):c.384T>C (p.Asp128=)
|
|
|
|
NM_002637.4(PHKA1):c.387A>G (p.Gln129=)
|
|
|
|
NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)
|
|
|
|
NM_002637.4(PHKA1):c.426G>A (p.Leu142=)
|
|
|
|
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
|
|
|
|
NM_002637.4(PHKA1):c.454+12G>A
|
|
|
|
NM_002637.4(PHKA1):c.455-5C>T
|
|
|
|
NM_002637.4(PHKA1):c.459C>G (p.Leu153=)
|
|
|
|
NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
|
|
|
|
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
|
|
|
|
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val)
|
rs2053946596
|
|
|
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
|
rs2053946293
|
|
|
NM_002637.4(PHKA1):c.534T>G (p.Thr178=)
|
|
|
|
NM_002637.4(PHKA1):c.537+5G>A
|
|
|
|
NM_002637.4(PHKA1):c.538-19A>G
|
|
|
|
NM_002637.4(PHKA1):c.543C>T (p.Phe181=)
|
|
|
|
NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
|
|
|
|
NM_002637.4(PHKA1):c.618+16T>G
|
|
|
|
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter)
|
rs2147781328
|
|
|
NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
|
|
|
|
NM_002637.4(PHKA1):c.663A>G (p.Lys221=)
|
|
|
|
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
|
|
|
|
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
|
|
|
|
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg)
|
rs137852548
|
|
|
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)
|
rs2053626907
|
|
|
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
|
|
|
|
NM_002637.4(PHKA1):c.691C>T (p.Leu231=)
|
|
|
|
NM_002637.4(PHKA1):c.695del (p.Ala232fs)
|
rs1603266754
|
|
|
NM_002637.4(PHKA1):c.6G>A (p.Arg2=)
|
|
|
|
NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
|
|
|
|
NM_002637.4(PHKA1):c.718-9T>C
|
|
|
|
NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
|
|
|
|
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
|
|
|
|
NM_002637.4(PHKA1):c.732A>C (p.Ser244=)
|
|
|
|
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
|
|
|
|
NM_002637.4(PHKA1):c.777A>G (p.Leu259=)
|
rs1015048037
|
|
|
NM_002637.4(PHKA1):c.78+15G>A
|
|
|
|
NM_002637.4(PHKA1):c.78+16TC[2]
|
rs781902933
|
|
|
NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
|
|
|
|
NM_002637.4(PHKA1):c.79-5dup
|
|
|
|
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs)
|
rs2147779873
|
|
|
NM_002637.4(PHKA1):c.864+12T>A
|
|
|
|
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter)
|
rs1256371424
|
|
|
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val)
|
rs137852547
|
|
|
NM_002637.4(PHKA1):c.900A>G (p.Gly300=)
|
|
|
|
NM_002637.4(PHKA1):c.919-17T>C
|
|
|
|
NM_002637.4(PHKA1):c.919-2A>G
|
rs2147766482
|
|
|
NM_002637.4(PHKA1):c.975G>A (p.Glu325=)
|
|
|
|
NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)
|
|
|
|
NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)
|
rs1752408637
|
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
|
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
|
|
|
|
NM_002863.5(PYGL):c.*11del
|
rs3216001
|
|
|
NM_002863.5(PYGL):c.*129T>C
|
rs886050536
|
|
|
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1]
|
rs561479231
|
|
|
NM_002863.5(PYGL):c.1000G>C (p.Val334Leu)
|
rs2142798340
|
|
|
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp)
|
rs886050538
|
|
|
NM_002863.5(PYGL):c.1006A>G (p.Ile336Val)
|
rs570077088
|
|
|
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)
|
rs113993976
|
|
|
NM_002863.5(PYGL):c.1038G>T (p.Ala346=)
|
rs759759626
|
|
|
NM_002863.5(PYGL):c.1063G>A (p.Val355Met)
|
rs771331012
|
|
|
NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)
|
|
|
|
NM_002863.5(PYGL):c.1093-16C>A
|
|
|
|
NM_002863.5(PYGL):c.1093-16C>T
|
|
|
|
NM_002863.5(PYGL):c.1093-7C>G
|
|
|
|
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
|
|
|
|
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)
|
rs113993977
|
|
|
NM_002863.5(PYGL):c.1137A>G (p.Thr379=)
|
|
|
|
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys)
|
rs773575319
|
|
|
NM_002863.5(PYGL):c.1160G>A (p.Arg387His)
|
|
|
|
NM_002863.5(PYGL):c.1160G>T (p.Arg387Leu)
|
|
|
|
NM_002863.5(PYGL):c.117G>T (p.Thr39=)
|
|
|
|
NM_002863.5(PYGL):c.1195C>G (p.Arg399Gly)
|
rs113993978
|
|
|
NM_002863.5(PYGL):c.1228A>T (p.Lys410Ter)
|
|
|
|
NM_002863.5(PYGL):c.1252T>C (p.Leu418=)
|
|
|
|
NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)
|
|
|
|
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
|
rs2050437440
|
|
|
NM_002863.5(PYGL):c.1365C>T (p.Gly455=)
|
|
|
|
NM_002863.5(PYGL):c.1389C>T (p.Ile463=)
|
|
|
|
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu)
|
rs779051230
|
|
|
NM_002863.5(PYGL):c.1403+7C>G
|
|
|
|
NM_002863.5(PYGL):c.1404-10C>T
|
|
|
|
NM_002863.5(PYGL):c.1404-1G>A
|
rs750567664
|
|
|
NM_002863.5(PYGL):c.1475G>A (p.Trp492Ter)
|
|
|
|
NM_002863.5(PYGL):c.1518G>A (p.Glu506=)
|
rs748519147
|
|
|
NM_002863.5(PYGL):c.1605C>T (p.Leu535=)
|
|
|
|
NM_002863.5(PYGL):c.1620+12A>T
|
rs377310825
|
|
|
NM_002863.5(PYGL):c.1620+1G>C
|
rs113993981
|
|
|
NM_002863.5(PYGL):c.1620+1G>T
|
rs113993981
|
|
|
NM_002863.5(PYGL):c.1668G>A (p.Val556=)
|
rs1213156043
|
|
|
NM_002863.5(PYGL):c.166C>T (p.Leu56=)
|
|
|
|
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro)
|
rs2050732195
|
|
|
NM_002863.5(PYGL):c.1715A>G (p.His572Arg)
|
|
|
|
NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)
|
|
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
|
NM_002863.5(PYGL):c.1769-15C>T
|
rs1269501651
|
|
|
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)
|
rs150483902
|
|
|
NM_002863.5(PYGL):c.179_197del (p.Val60fs)
|
|
|
|
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)
|
|
|
|
NM_002863.5(PYGL):c.1827+19A>G
|
|
|
|
NM_002863.5(PYGL):c.1828-2del
|
rs11356035
|
|
|
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)
|
rs767847163
|
|
|
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile)
|
rs113993983
|
|
|
NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)
|
|
|
|
NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)
|
|
|
|
NM_002863.5(PYGL):c.1964_1969+4delinsGAAAAA
|
|
|
|
NM_002863.5(PYGL):c.1969+7C>A
|
|
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
|
NM_002863.5(PYGL):c.198del (p.Arg67fs)
|
|
|
|
NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro)
|
rs1241000496
|
|
|
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)
|
rs113993985
|
|
|
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)
|
rs113993987
|
|
|
NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)
|
|
|
|
NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg)
|
rs2050377435
|
|
|
NM_002863.5(PYGL):c.2062C>G (p.Leu688Val)
|
|
|
|
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)
|
rs2050376472
|
|
|
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)
|
rs2142788432
|
|
|
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)
|
rs539898848
|
|
|
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)
|
rs539898848
|
|
|
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)
|
|
|
|
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser)
|
rs1555328661
|
|
|
NM_002863.5(PYGL):c.211A>C (p.Thr71Pro)
|
|
|
|
NM_002863.5(PYGL):c.2142G>A (p.Met714Ile)
|
|
|
|
NM_002863.5(PYGL):c.2163T>C (p.Ala721=)
|
|
|
|
NM_002863.5(PYGL):c.2177+17T>C
|
|
|
|
NM_002863.5(PYGL):c.2177+2T>C
|
rs1368182301
|
|
|
NM_002863.5(PYGL):c.2178-10T>A
|
rs879201864
|
|
|
NM_002863.5(PYGL):c.2178-11del
|
rs1555326336
|
|
|
NM_002863.5(PYGL):c.2178-8_2178-7insT
|
|
|
|
NM_002863.5(PYGL):c.2181C>T (p.Tyr727=)
|
|
|
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
|
|
|
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser)
|
rs759925909
|
|
|
NM_002863.5(PYGL):c.229_231del (p.Asp77del)
|
|
|
|
NM_002863.5(PYGL):c.2312+12T>C
|
|
|
|
NM_002863.5(PYGL):c.2313-20T>C
|
|
|
|
NM_002863.5(PYGL):c.2341T>C (p.Tyr781His)
|
rs2142785955
|
|
|
NM_002863.5(PYGL):c.2380-12T>C
|
|
|
|
NM_002863.5(PYGL):c.2430G>A (p.Gly810=)
|
|
|
|
NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)
|
|
|
|
NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)
|
|
|
|
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)
|
|
|
|
NM_002863.5(PYGL):c.2502G>A (p.Lys834=)
|
|
|
|
NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)
|
|
|
|
NM_002863.5(PYGL):c.258C>A (p.Leu86=)
|
|
|
|
NM_002863.5(PYGL):c.25_44dup (p.Ser15fs)
|
rs786204785
|
|
|
NM_002863.5(PYGL):c.275T>G (p.Met92Arg)
|
rs767745350
|
|
|
NM_002863.5(PYGL):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala)
|
rs200623468
|
|
|
NM_002863.5(PYGL):c.298_307del (p.Met100fs)
|
rs1555328280
|
|
|
NM_002863.5(PYGL):c.309C>G (p.Leu103=)
|
rs773420518
|
|
|
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser)
|
rs762102544
|
|
|
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr)
|
rs745625131
|
|
|
NM_002863.5(PYGL):c.33dup (p.Arg12fs)
|
rs2050731690
|
|
|
NM_002863.5(PYGL):c.360A>T (p.Ile120=)
|
rs1159794818
|
|
|
NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)
|
|
|
|
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro)
|
rs113993972
|
|
|
NM_002863.5(PYGL):c.390T>C (p.Ala130=)
|
|
|
|
NM_002863.5(PYGL):c.393A>G (p.Gly131=)
|
|
|
|
NM_002863.5(PYGL):c.406G>C (p.Gly136Arg)
|
rs2139194721
|
|
|
NM_002863.5(PYGL):c.407dup (p.Leu137fs)
|
|
|
|
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn)
|
rs1566518078
|
|
|
NM_002863.5(PYGL):c.444G>A (p.Met148Ile)
|
rs2050603053
|
|
|
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile)
|
rs1596047964
|
|
|
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)
|
|
|
|
NM_002863.5(PYGL):c.49C>T (p.Arg17Cys)
|
|
|
|
NM_002863.5(PYGL):c.508_510delinsTAA (p.Lys170Ter)
|
rs1596047883
|
|
|
NM_002863.5(PYGL):c.514C>T (p.Arg172Ter)
|
|
|
|
NM_002863.5(PYGL):c.528+15T>A
|
|
|
|
NM_002863.5(PYGL):c.528+1G>A
|
|
|
|
NM_002863.5(PYGL):c.528+2T>C
|
rs1243388778
|
|
|
NM_002863.5(PYGL):c.529-1G>C
|
rs113993974
|
|
|
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg)
|
rs770642815
|
|
|
NM_002863.5(PYGL):c.592A>C (p.Met198Leu)
|
|
|
|
NM_002863.5(PYGL):c.607T>G (p.Phe203Val)
|
rs1345778137
|
|
|
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)
|
rs1043083798
|
|
|
NM_002863.5(PYGL):c.647G>A (p.Trp216Ter)
|
|
|
|
NM_002863.5(PYGL):c.660+12_660+33del
|
rs2050523960
|
|
|
NM_002863.5(PYGL):c.660+16G>A
|
|
|
|
NM_002863.5(PYGL):c.661-20G>C
|
|
|
|
NM_002863.5(PYGL):c.715_716del (p.Val239fs)
|
|
|
|
NM_002863.5(PYGL):c.728G>A (p.Arg243His)
|
rs1445713979
|
|
|
NM_002863.5(PYGL):c.72C>A (p.Asn24Lys)
|
rs1375868904
|
|
|
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
|
rs1472614445
|
|
|
NM_002863.5(PYGL):c.772+2_772+3del
|
rs765425704
|
|
|
NM_002863.5(PYGL):c.772+5G>T
|
rs2050494485
|
|
|
NM_002863.5(PYGL):c.773-13A>G
|
rs775151283
|
|
|
NM_002863.5(PYGL):c.777T>A (p.Asn259Lys)
|
|
|
|
NM_002863.5(PYGL):c.780del (p.Gly261fs)
|
rs1489848369
|
|
|
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp)
|
rs2050490818
|
|
|
NM_002863.5(PYGL):c.825C>T (p.Asn275=)
|
|
|
|
NM_002863.5(PYGL):c.865G>A (p.Gly289Arg)
|
rs2139174321
|
|
|
NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)
|
|
|
|
NM_003041.4(SLC5A2):c.*160C>T
|
rs2082559242
|
|
|
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)
|
|
|
|
NM_003041.4(SLC5A2):c.1129+6G>A
|
rs2082520576
|
|
|
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)
|
rs770588592
|
|
|
NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs)
|
|
|
|
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)
|
rs1198340932
|
|
|
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=)
|
rs537643888
|
|
|
NM_003041.4(SLC5A2):c.127-16C>A
|
rs398122801
|
|
|
NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)
|
rs2082525420
|
|
|
NM_003041.4(SLC5A2):c.1291del (p.Val431fs)
|
rs1555496083
|
|
|
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala)
|
rs886051961
|
|
|
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)
|
rs121918621
|
|
|
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys)
|
rs773289713
|
|
|
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
|
rs2082529261
|
|
|
NM_003041.4(SLC5A2):c.1373C>T (p.Ala458Val)
|
|
|
|
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)
|
rs1426433916
|
|
|
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly)
|
rs387906682
|
|
|
NM_003041.4(SLC5A2):c.1449+14G>A
|
rs777309894
|
|
|
NM_003041.4(SLC5A2):c.1450-4G>A
|
rs886051962
|
|
|
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp)
|
rs1309307492
|
|
|
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)
|
rs2082481220
|
|
|
NM_003041.4(SLC5A2):c.1532G>C (p.Cys511Ser)
|
|
|
|
NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)
|
|
|
|
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
|
|
|
|
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)
|
rs772983040
|
|
|
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)
|
|
|
|
NM_003041.4(SLC5A2):c.1792+2T>C
|
|
|
|
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)
|
rs368649902
|
|
|
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)
|
rs1188721313
|
|
|
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del)
|
rs771257793
|
|
|
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)
|
rs760556743
|
|
|
NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)
|
rs141376808
|
|
|
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)
|
rs2082556858
|
|
|
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)
|
|
|
|
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu)
|
rs398122802
|
|
|
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)
|
|
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
|
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
|
rs146552221
|
|
|
NM_003041.4(SLC5A2):c.469-2A>T
|
|
|
|
NM_003041.4(SLC5A2):c.655+5G>A
|
|
|
|
NM_003041.4(SLC5A2):c.655+6G>C
|
rs779984246
|
|
|
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)
|
|
|
|
NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val)
|
|
|
|
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
|
|
|
|
NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro)
|
|
|
|
NM_003051.3(SLC16A1):c.-214C>G
|
rs183726141
|
|
|
NM_003051.3(SLC16A1):c.-226G>A
|
rs886045089
|
|
|
NM_003051.3(SLC16A1):c.-249C>G
|
rs60953496
|
|
|
NM_003051.3(SLC16A1):c.-249C>T
|
rs60953496
|
|
|
NM_003051.3(SLC16A1):c.-313T>C
|
rs886045090
|
|
|
NM_003051.3(SLC16A1):c.-314A>G
|
rs886045091
|
|
|
NM_003051.3(SLC16A1):c.-316G>A
|
rs1313637478
|
|
|
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG
|
rs606231172
|
|
|
NM_003051.4(SLC16A1):c.*1044T>G
|
rs1190989254
|
|
|
NM_003051.4(SLC16A1):c.*1051G>A
|
rs886045064
|
|
|
NM_003051.4(SLC16A1):c.*1064G>T
|
rs886045063
|
|
|
NM_003051.4(SLC16A1):c.*1071T>C
|
rs1648368024
|
|
|
NM_003051.4(SLC16A1):c.*1072G>T
|
rs886045062
|
|
|
NM_003051.4(SLC16A1):c.*361G>T
|
rs1407575522
|
|
|
NM_003051.4(SLC16A1):c.*739T>C
|
rs570060559
|
|
|
NM_003051.4(SLC16A1):c.*739T>G
|
rs570060559
|
|
|
NM_003051.4(SLC16A1):c.-202G>A
|
rs387906403
|
|
|
NM_003051.4(SLC16A1):c.1228+6G>A
|
rs190615745
|
|
|
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)
|
rs886045067
|
|
|
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)
|
rs1570623881
|
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
|
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=)
|
rs145916504
|
|
|
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser)
|
rs200143982
|
|
|
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu)
|
rs766830652
|
|
|
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=)
|
rs760137043
|
|
|
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
|
|
|
|
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)
|
rs606231310
|
|
|
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu)
|
rs774823539
|
|
|
NM_003292.3(TPR):c.2610+5G>A
|
|
|
|
NM_003292.3(TPR):c.6625C>T (p.Arg2209Ter)
|
|
|
|
NM_003355.3(UCP2):c.685A>G (p.Thr229Ala)
|
rs2135363060
|
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
|
NM_003384.3(VRK1):c.-5-146A>G
|
|
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
|
NM_003384.3(VRK1):c.1038T>C (p.Asn346=)
|
rs2139815079
|
|
|
NM_003384.3(VRK1):c.103_104del (p.Lys35fs)
|
rs2139748811
|
|
|
NM_003384.3(VRK1):c.1056A>G (p.Lys352=)
|
rs2139815109
|
|
|
NM_003384.3(VRK1):c.1058_1060del (p.Thr353del)
|
rs794727029
|
|
|
NM_003384.3(VRK1):c.1059A>C (p.Thr353=)
|
rs1226336700
|
|
|
NM_003384.3(VRK1):c.105G>A (p.Lys35=)
|
|
|
|
NM_003384.3(VRK1):c.105_108del (p.Lys35fs)
|
|
|
|
NM_003384.3(VRK1):c.1061dup (p.Thr355fs)
|
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
|
NM_003384.3(VRK1):c.1068+10G>A
|
|
|
|
NM_003384.3(VRK1):c.1068+17_1068+21del
|
|
|
|
NM_003384.3(VRK1):c.1068+20T>C
|
|
|
|
NM_003384.3(VRK1):c.1068+20T>G
|
|
|
|
NM_003384.3(VRK1):c.1068+9T>C
|
|
|
|
NM_003384.3(VRK1):c.1069-12T>G
|
|
|
|
NM_003384.3(VRK1):c.1069-17T>C
|
|
|
|
NM_003384.3(VRK1):c.1069-17T>G
|
|
|
|
NM_003384.3(VRK1):c.1069-19_1069-16del
|
|
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
|
NM_003384.3(VRK1):c.1069-9A>T
|
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
|
NM_003384.3(VRK1):c.1072C>A (p.Arg358=)
|
|
|
|
NM_003384.3(VRK1):c.1081_1084del (p.Glu361fs)
|
|
|
|
NM_003384.3(VRK1):c.1083A>G (p.Glu361=)
|
|
|
|
NM_003384.3(VRK1):c.1086T>C (p.Ile362=)
|
rs2139845833
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
|
NM_003384.3(VRK1):c.1096_1097insTGAAGCA (p.Lys366fs)
|
rs2139845849
|
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
|
NM_003384.3(VRK1):c.110G>A (p.Trp37Ter)
|
rs2139748841
|
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
|
NM_003384.3(VRK1):c.1119G>A (p.Thr373=)
|
rs777515325
|
|
|
NM_003384.3(VRK1):c.1122A>G (p.Glu374=)
|
|
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
|
NM_003384.3(VRK1):c.1133_1136del (p.Thr378fs)
|
rs1889019962
|
|
|
NM_003384.3(VRK1):c.1134A>G (p.Thr378=)
|
|
|
|
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
|
|
|
|
NM_003384.3(VRK1):c.1144dup (p.Glu382fs)
|
|
|
|
NM_003384.3(VRK1):c.1146G>A (p.Glu382=)
|
rs1889020417
|
|
|
NM_003384.3(VRK1):c.1149C>T (p.Ala383=)
|
rs1257711610
|
|
|
NM_003384.3(VRK1):c.1149del (p.Ile384fs)
|
|
|
|
NM_003384.3(VRK1):c.1159+10A>G
|
rs756764690
|
|
|
NM_003384.3(VRK1):c.1159+11C>T
|
|
|
|
NM_003384.3(VRK1):c.1159+18G>T
|
|
|
|
NM_003384.3(VRK1):c.1159+1G>A
|
rs774877872
|
|
|
NM_003384.3(VRK1):c.1160-14G>C
|
|
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
|
NM_003384.3(VRK1):c.1160-4C>G
|
|
|
|
NM_003384.3(VRK1):c.1160-4C>T
|
|
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
|
NM_003384.3(VRK1):c.1160-7C>T
|
rs1251234541
|
|
|
NM_003384.3(VRK1):c.1160-7del
|
|
|
|
NM_003384.3(VRK1):c.1160-8del
|
rs2139857568
|
|
|
NM_003384.3(VRK1):c.1161T>C (p.Arg387=)
|
rs1196862965
|
|
|
NM_003384.3(VRK1):c.1161T>G (p.Arg387=)
|
|
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
|
NM_003384.3(VRK1):c.1176G>A (p.Lys392=)
|
|
|
|
NM_003384.3(VRK1):c.120A>G (p.Gly40=)
|
|
|
|
NM_003384.3(VRK1):c.12A>T (p.Val4=)
|
|
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
|
NM_003384.3(VRK1):c.135A>G (p.Gln45=)
|
rs1595660598
|
|
|
NM_003384.3(VRK1):c.138A>G (p.Gly46=)
|
|
|
|
NM_003384.3(VRK1):c.150T>C (p.Cys50=)
|
rs747562164
|
|
|
NM_003384.3(VRK1):c.156T>A (p.Tyr52Ter)
|
rs1887100431
|
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
|
NM_003384.3(VRK1):c.159_160insCATATATCTT (p.Ala54fs)
|
|
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
|
NM_003384.3(VRK1):c.160+1del
|
|
|
|
NM_003384.3(VRK1):c.161-10T>C
|
|
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
|
NM_003384.3(VRK1):c.161-6A>T
|
|
|
|
NM_003384.3(VRK1):c.161-7dup
|
rs1295596727
|
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
|
NM_003384.3(VRK1):c.183A>G (p.Ser61=)
|
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
|
NM_003384.3(VRK1):c.216+9T>C
|
|
|
|
NM_003384.3(VRK1):c.217-10A>G
|
rs2139778948
|
|
|
NM_003384.3(VRK1):c.217-10dup
|
|
|
|
NM_003384.3(VRK1):c.217-12T>C
|
|
|
|
NM_003384.3(VRK1):c.217-14T>C
|
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
|
NM_003384.3(VRK1):c.217-7T>C
|
rs2139778978
|
|
|
NM_003384.3(VRK1):c.217-8_217-7del
|
|
|
|
NM_003384.3(VRK1):c.217-9T>C
|
rs529433051
|
|
|
NM_003384.3(VRK1):c.217-9del
|
rs2139778965
|
|
|
NM_003384.3(VRK1):c.219A>G (p.Glu73=)
|
|
|
|
NM_003384.3(VRK1):c.21T>C (p.Ala7=)
|
|
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
|
NM_003384.3(VRK1):c.222C>T (p.Pro74=)
|
|
|
|
NM_003384.3(VRK1):c.222del (p.Ser75fs)
|
rs2139779014
|
|
|
NM_003384.3(VRK1):c.22C>T (p.Gln8Ter)
|
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
|
NM_003384.3(VRK1):c.237T>G (p.Pro79=)
|
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
|
NM_003384.3(VRK1):c.252A>G (p.Leu84=)
|
|
|
|
NM_003384.3(VRK1):c.261C>T (p.Tyr87=)
|
rs748309797
|
|
|
NM_003384.3(VRK1):c.270T>C (p.Ala90=)
|
|
|
|
NM_003384.3(VRK1):c.280_284del (p.Glu94fs)
|
|
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
|
NM_003384.3(VRK1):c.286+11C>A
|
|
|
|
NM_003384.3(VRK1):c.286+11C>T
|
|
|
|
NM_003384.3(VRK1):c.286+15A>G
|
|
|
|
NM_003384.3(VRK1):c.287-11T>C
|
|
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
|
NM_003384.3(VRK1):c.287-4G>A
|
rs1395180911
|
|
|
NM_003384.3(VRK1):c.287-4G>T
|
rs1395180911
|
|
|
NM_003384.3(VRK1):c.287-7T>C
|
|
|
|
NM_003384.3(VRK1):c.287-8_287-7delinsTA
|
rs1064795545
|
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
|
NM_003384.3(VRK1):c.306C>G (p.Thr102=)
|
rs1326352230
|
|
|
NM_003384.3(VRK1):c.312G>A (p.Lys104=)
|
rs1269621133
|
|
|
NM_003384.3(VRK1):c.31A>T (p.Arg11Ter)
|
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
|
NM_003384.3(VRK1):c.327T>A (p.Gly109=)
|
|
|
|
NM_003384.3(VRK1):c.330T>C (p.Val110=)
|
|
|
|
NM_003384.3(VRK1):c.339T>C (p.Tyr113=)
|
|
|
|
NM_003384.3(VRK1):c.354A>G (p.Leu118=)
|
|
|
|
NM_003384.3(VRK1):c.362_365del (p.Lys121fs)
|
rs772146380
|
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
|
NM_003384.3(VRK1):c.374+15G>C
|
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
|
NM_003384.3(VRK1):c.374+7A>T
|
|
|
|
NM_003384.3(VRK1):c.374+7dup
|
|
|
|
NM_003384.3(VRK1):c.375-10T>C
|
rs2139795498
|
|
|
NM_003384.3(VRK1):c.375-12A>G
|
|
|
|
NM_003384.3(VRK1):c.375-14A>G
|
|
|
|
NM_003384.3(VRK1):c.375-19T>C
|
|
|
|
NM_003384.3(VRK1):c.375-4T>C
|
|
|
|
NM_003384.3(VRK1):c.378C>T (p.Tyr126=)
|
rs1344283744
|
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
|
NM_003384.3(VRK1):c.381G>A (p.Arg127=)
|
rs2139795531
|
|
|
NM_003384.3(VRK1):c.387dup (p.Ile130fs)
|
rs2139795550
|
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
|
NM_003384.3(VRK1):c.396T>C (p.Asp132=)
|
rs2139795583
|
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
|
NM_003384.3(VRK1):c.399C>T (p.Arg133=)
|
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
|
NM_003384.3(VRK1):c.426T>C (p.Tyr142=)
|
rs2139795639
|
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
|
NM_003384.3(VRK1):c.444G>A (p.Arg148=)
|
|
|
|
NM_003384.3(VRK1):c.456A>G (p.Lys152=)
|
rs2139795727
|
|
|
NM_003384.3(VRK1):c.459T>C (p.Thr153=)
|
rs145911601
|
|
|
NM_003384.3(VRK1):c.462C>A (p.Val154=)
|
rs757654085
|
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
|
NM_003384.3(VRK1):c.471A>C (p.Leu157=)
|
rs2139795805
|
|
|
NM_003384.3(VRK1):c.474C>T (p.Ser158=)
|
rs2139795825
|
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
|
NM_003384.3(VRK1):c.483+10_483+23del
|
rs1888009081
|
|
|
NM_003384.3(VRK1):c.483+12A>G
|
|
|
|
NM_003384.3(VRK1):c.483+15T>A
|
|
|
|
NM_003384.3(VRK1):c.483+17C>G
|
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
|
NM_003384.3(VRK1):c.483+20_483+22del
|
rs566207500
|
|
|
NM_003384.3(VRK1):c.483+20dup
|
|
|
|
NM_003384.3(VRK1):c.483+8A>G
|
rs2139795917
|
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
|
NM_003384.3(VRK1):c.484-15A>T
|
|
|
|
NM_003384.3(VRK1):c.484-16T>C
|
|
|
|
NM_003384.3(VRK1):c.484-18T>C
|
|
|
|
NM_003384.3(VRK1):c.484-18T>G
|
|
|
|
NM_003384.3(VRK1):c.484-5C>T
|
|
|
|
NM_003384.3(VRK1):c.484-6T>G
|
|
|
|
NM_003384.3(VRK1):c.484-6dup
|
rs2139796250
|
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
|
NM_003384.3(VRK1):c.495G>C (p.Leu165=)
|
rs2139796298
|
|
|
NM_003384.3(VRK1):c.500del (p.Tyr167fs)
|
|
|
|
NM_003384.3(VRK1):c.502_503del (p.Ile168fs)
|
|
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
|
NM_003384.3(VRK1):c.513T>C (p.His171=)
|
rs2139796362
|
|
|
NM_003384.3(VRK1):c.516G>A (p.Glu172=)
|
rs2139796370
|
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
|
NM_003384.3(VRK1):c.534C>T (p.Ile178=)
|
|
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
|
NM_003384.3(VRK1):c.537G>A (p.Lys179=)
|
rs1888016926
|
|
|
NM_003384.3(VRK1):c.542C>G (p.Ser181Ter)
|
|
|
|
NM_003384.3(VRK1):c.542_543insGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGGCCTC (p.Ser181_Asn182insArgGlyGlySerArgLeuTer)
|
rs2139796429
|
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
|
NM_003384.3(VRK1):c.549T>C (p.Leu183=)
|
rs1888017489
|
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
|
NM_003384.3(VRK1):c.555G>C (p.Leu185=)
|
rs2139796508
|
|
|
NM_003384.3(VRK1):c.561C>T (p.Tyr187=)
|
rs2139796518
|
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
|
NM_003384.3(VRK1):c.576+11A>G
|
|
|
|
NM_003384.3(VRK1):c.576+18A>G
|
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
|
NM_003384.3(VRK1):c.577-11del
|
|
|
|
NM_003384.3(VRK1):c.577-16G>C
|
|
|
|
NM_003384.3(VRK1):c.577-18G>A
|
|
|
|
NM_003384.3(VRK1):c.577-18G>T
|
|
|
|
NM_003384.3(VRK1):c.577-18del
|
rs759260596
|
|
|
NM_003384.3(VRK1):c.577-5T>C
|
|
|
|
NM_003384.3(VRK1):c.57T>C (p.Leu19=)
|
rs2139748645
|
|
|
NM_003384.3(VRK1):c.582C>T (p.Tyr194=)
|
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
|
NM_003384.3(VRK1):c.588A>G (p.Val196=)
|
rs1387075963
|
|
|
NM_003384.3(VRK1):c.591T>C (p.Asp197=)
|
|
|
|
NM_003384.3(VRK1):c.600T>C (p.Leu200=)
|
|
|
|
NM_003384.3(VRK1):c.603T>G (p.Ala201=)
|
rs1157448476
|
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
|
NM_003384.3(VRK1):c.609G>A (p.Arg203=)
|
|
|
|
NM_003384.3(VRK1):c.609G>C (p.Arg203=)
|
rs1298227038
|
|
|
NM_003384.3(VRK1):c.615C>T (p.Cys205=)
|
rs772730428
|
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
|
NM_003384.3(VRK1):c.633_636del (p.Lys211fs)
|
|
|
|
NM_003384.3(VRK1):c.636A>G (p.Glu212=)
|
rs776975502
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
|
NM_003384.3(VRK1):c.648C>T (p.Asp216=)
|
rs765348075
|
|
|
NM_003384.3(VRK1):c.651C>G (p.Pro217=)
|
rs2139801938
|
|
|
NM_003384.3(VRK1):c.651C>T (p.Pro217=)
|
rs2139801938
|
|
|
NM_003384.3(VRK1):c.652A>T (p.Lys218Ter)
|
rs2139801958
|
|
|
NM_003384.3(VRK1):c.660T>A (p.Cys220Ter)
|
rs762979613
|
|
|
NM_003384.3(VRK1):c.660T>C (p.Cys220=)
|
rs762979613
|
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
|
NM_003384.3(VRK1):c.669C>T (p.Gly223=)
|
|
|
|
NM_003384.3(VRK1):c.672T>A (p.Thr224=)
|
|
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
|
NM_003384.3(VRK1):c.684G>A (p.Thr228=)
|
rs753585913
|
|
|
NM_003384.3(VRK1):c.684G>C (p.Thr228=)
|
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
|
NM_003384.3(VRK1):c.705C>G (p.Gly235=)
|
rs2230532
|
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
|
NM_003384.3(VRK1):c.709+12G>A
|
|
|
|
NM_003384.3(VRK1):c.709+13T>A
|
|
|
|
NM_003384.3(VRK1):c.709+14A>G
|
|
|
|
NM_003384.3(VRK1):c.709+17G>A
|
|
|
|
NM_003384.3(VRK1):c.709+18G>T
|
|
|
|
NM_003384.3(VRK1):c.709+7_709+12dup
|
|
|
|
NM_003384.3(VRK1):c.709+8A>G
|
|
|
|
NM_003384.3(VRK1):c.710-13C>G
|
|
|
|
NM_003384.3(VRK1):c.710-15C>G
|
rs757988438
|
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
|
NM_003384.3(VRK1):c.710-8A>G
|
rs781693457
|
|
|
NM_003384.3(VRK1):c.710-9C>T
|
|
|
|
NM_003384.3(VRK1):c.711C>T (p.Ala237=)
|
rs2139803845
|
|
|
NM_003384.3(VRK1):c.729T>C (p.Asp243=)
|
|
|
|
NM_003384.3(VRK1):c.72A>G (p.Ala24=)
|
|
|
|
NM_003384.3(VRK1):c.733G>T (p.Glu245Ter)
|
rs1200170208
|
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
|
NM_003384.3(VRK1):c.747T>C (p.Tyr249=)
|
|
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
|
NM_003384.3(VRK1):c.768T>C (p.Thr256=)
|
rs2139804008
|
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
|
NM_003384.3(VRK1):c.779del (p.Pro260fs)
|
|
|
|
NM_003384.3(VRK1):c.783G>A (p.Trp261Ter)
|
rs2139804073
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
|
NM_003384.3(VRK1):c.804T>C (p.Pro268=)
|
|
|
|
NM_003384.3(VRK1):c.804T>G (p.Pro268=)
|
|
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
|
NM_003384.3(VRK1):c.810T>G (p.Tyr270Ter)
|
|
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
|
NM_003384.3(VRK1):c.822C>T (p.Ser274=)
|
|
|
|
NM_003384.3(VRK1):c.830+12C>T
|
|
|
|
NM_003384.3(VRK1):c.830+16_830+20del
|
|
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
|
NM_003384.3(VRK1):c.830+7G>A
|
rs2139804244
|
|
|
NM_003384.3(VRK1):c.830+9A>G
|
rs2139804260
|
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
|
NM_003384.3(VRK1):c.831-12A>T
|
|
|
|
NM_003384.3(VRK1):c.831-16C>T
|
|
|
|
NM_003384.3(VRK1):c.831-9T>C
|
rs2139804862
|
|
|
NM_003384.3(VRK1):c.837A>G (p.Arg279=)
|
|
|
|
NM_003384.3(VRK1):c.854del (p.Ser284_Leu285insTer)
|
|
|
|
NM_003384.3(VRK1):c.864A>G (p.Lys288=)
|
rs1744342065
|
|
|
NM_003384.3(VRK1):c.881del (p.Asn294fs)
|
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
|
NM_003384.3(VRK1):c.883_886del (p.Lys295fs)
|
rs779282547
|
|
|
NM_003384.3(VRK1):c.889+10G>A
|
|
|
|
NM_003384.3(VRK1):c.889+10G>T
|
rs1456272984
|
|
|
NM_003384.3(VRK1):c.889+11A>G
|
|
|
|
NM_003384.3(VRK1):c.889+14T>C
|
|
|
|
NM_003384.3(VRK1):c.889+15C>T
|
|
|
|
NM_003384.3(VRK1):c.889+18C>T
|
|
|
|
NM_003384.3(VRK1):c.889+19A>C
|
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
|
NM_003384.3(VRK1):c.889+20G>C
|
rs1347150139
|
|
|
NM_003384.3(VRK1):c.889+20G>T
|
rs1347150139
|
|
|
NM_003384.3(VRK1):c.889+8A>G
|
|
|
|
NM_003384.3(VRK1):c.889+9T>C
|
rs1257886278
|
|
|
NM_003384.3(VRK1):c.890-10A>G
|
|
|
|
NM_003384.3(VRK1):c.890-15G>A
|
|
|
|
NM_003384.3(VRK1):c.890-19G>A
|
|
|
|
NM_003384.3(VRK1):c.890-19G>C
|
|
|
|
NM_003384.3(VRK1):c.890-22_890-15del
|
|
|
|
NM_003384.3(VRK1):c.890-4T>C
|
rs2139814659
|
|
|
NM_003384.3(VRK1):c.894A>G (p.Glu298=)
|
|
|
|
NM_003384.3(VRK1):c.897T>C (p.Ile299=)
|
|
|
|
NM_003384.3(VRK1):c.897del (p.Ile299fs)
|
rs2139814687
|
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
|
NM_003384.3(VRK1):c.913dup (p.Thr305fs)
|
rs2139814734
|
|
|
NM_003384.3(VRK1):c.915A>G (p.Thr305=)
|
rs1481654179
|
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
|
NM_003384.3(VRK1):c.933C>T (p.Tyr311=)
|
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
|
NM_003384.3(VRK1):c.948T>C (p.Leu316=)
|
|
|
|
NM_003384.3(VRK1):c.948T>G (p.Leu316=)
|
|
|
|
NM_003384.3(VRK1):c.950_951dup (p.Glu318fs)
|
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
|
NM_003384.3(VRK1):c.969T>C (p.Ile323=)
|
|
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
|
NM_003384.3(VRK1):c.972T>C (p.Leu324=)
|
rs2139814880
|
|
|
NM_003384.3(VRK1):c.972T>G (p.Leu324=)
|
|
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
|
NM_003384.3(VRK1):c.984A>G (p.Leu328=)
|
rs765633672
|
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
|
NM_003384.3(VRK1):c.9T>G (p.Arg3=)
|
rs771646609
|
|
|
NM_003477.2(PDHX):c.-129_-127delCGG
|
rs371074122
|
|
|
NM_003477.2(PDHX):c.-208C>T
|
rs555380381
|
|
|
NM_003477.2(PDHX):c.-271G>T
|
rs780153979
|
|
|
NM_003477.2(PDHX):c.78_162del
|
|
|
|
NM_003477.3(PDHX):c.*662A>T
|
rs1855847638
|
|
|
NM_003477.3(PDHX):c.*783G>T
|
rs751318367
|
|
|
NM_003477.3(PDHX):c.*821A>T
|
rs1020596537
|
|
|
NM_003477.3(PDHX):c.*874A>G
|
rs1855851456
|
|
|
NM_003477.3(PDHX):c.*904G>T
|
rs182283782
|
|
|
NM_003477.3(PDHX):c.-27C>T
|
rs529801753
|
|
|
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
|
|
|
|
NM_003477.3(PDHX):c.1024-1G>A
|
rs724159830
|
|
|
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)
|
rs200189510
|
|
|
NM_003477.3(PDHX):c.1183-3088_1247+760del
|
|
|
|
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
|
rs756801221
|
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
|
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
|
|
|
|
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
|
|
|
|
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
|
|
|
|
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
|
rs200419151
|
|
|
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
|
|
|
|
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)
|
rs769476738
|
|
|
NM_003477.3(PDHX):c.557del (p.Pro186fs)
|
|
|
|
NM_003477.3(PDHX):c.585C>G (p.His195Gln)
|
rs886048247
|
|
|
NM_003477.3(PDHX):c.620del (p.Pro207fs)
|
rs724159979
|
|
|
NM_003477.3(PDHX):c.641+1G>A
|
rs724159829
|
|
|
NM_003477.3(PDHX):c.702T>C (p.Thr234=)
|
rs772231144
|
|
|
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
|
|
|
|
NM_003477.3(PDHX):c.711dup (p.Thr238fs)
|
rs776567343
|
|
|
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
|
|
|
|
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)
|
|
|
|
NM_003477.3(PDHX):c.793dup (p.Thr265fs)
|
rs1057518180
|
|
|
NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)
|
|
|
|
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)
|
rs886048248
|
|
|
NM_003477.3(PDHX):c.88_91del (p.Lys30fs)
|
rs724159828
|
|
|
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
|
rs1855230194
|
|
|
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)
|
rs1554989996
|
|
|
NM_003597.5(KLF11):c.*122C>T
|
rs576978858
|
|
|
NM_003597.5(KLF11):c.*1296T>C
|
rs886054730
|
|
|
NM_003597.5(KLF11):c.*1423T>C
|
rs571234569
|
|
|
NM_003597.5(KLF11):c.*1495G>A
|
rs886054733
|
|
|
NM_003597.5(KLF11):c.*1612C>G
|
rs886054734
|
|
|
NM_003597.5(KLF11):c.*1894A>G
|
rs557209557
|
|
|
NM_003597.5(KLF11):c.*226_*227dup
|
rs34206941
|
|
|
NM_003597.5(KLF11):c.*227dup
|
rs34206941
|
|
|
NM_003597.5(KLF11):c.*319C>T
|
rs777727299
|
|
|
NM_003597.5(KLF11):c.*457A>T
|
rs920552860
|
|
|
NM_003597.5(KLF11):c.*96dup
|
rs886054725
|
|
|
NM_003597.5(KLF11):c.-95GCC[5]
|
rs372827624
|
|
|
NM_003597.5(KLF11):c.-95GCC[7]
|
rs372827624
|
|
|
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)
|
rs964899969
|
|
|
NM_003597.5(KLF11):c.1050G>A (p.Pro350=)
|
rs145193520
|
|
|
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)
|
rs886054724
|
|
|
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly)
|
rs757875185
|
|
|
NM_003597.5(KLF11):c.308C>T (p.Thr103Ile)
|
|
|
|
NM_003597.5(KLF11):c.351A>G (p.Pro117=)
|
rs781433096
|
|
|
NM_003597.5(KLF11):c.42+18C>G
|
rs1476684022
|
|
|
NM_003597.5(KLF11):c.57C>A (p.Asp19Glu)
|
|
|
|
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg)
|
rs1347317649
|
|
|
NM_003597.5(KLF11):c.870C>T (p.Ile290=)
|
rs149235463
|
|
|
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser)
|
rs1661291203
|
|
|
NM_003619.4(PRSS12):c.*1431C>T
|
rs548846144
|
|
|
NM_003619.4(PRSS12):c.*1577A>G
|
rs1742810283
|
|
|
NM_003619.4(PRSS12):c.*1699T>C
|
rs886059024
|
|
|
NM_003619.4(PRSS12):c.*260C>T
|
rs886059031
|
|
|
NM_003619.4(PRSS12):c.*263A>G
|
rs957795451
|
|
|
NM_003619.4(PRSS12):c.*278T>A
|
rs886059030
|
|
|
NM_003619.4(PRSS12):c.*526T>A
|
rs886059029
|
|
|
NM_003619.4(PRSS12):c.*531C>A
|
rs886059028
|
|
|
NM_003619.4(PRSS12):c.*830C>T
|
rs886059026
|
|
|
NM_003619.4(PRSS12):c.*839T>C
|
rs1343646133
|
|
|
NM_003619.4(PRSS12):c.*842C>G
|
rs886059025
|
|
|
NM_003619.4(PRSS12):c.*849C>T
|
rs1742836402
|
|
|
NM_003619.4(PRSS12):c.*906A>G
|
rs1742834260
|
|
|
NM_003619.4(PRSS12):c.*950A>C
|
rs1314051273
|
|
|
NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu)
|
|
|
|
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)
|
rs761103069
|
|
|
NM_003619.4(PRSS12):c.1355_1358del (p.Asp452fs)
|
rs876657372
|
|
|
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly)
|
rs1743806508
|
|
|
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter)
|
rs1560774339
|
|
|
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
|
|
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
|
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=)
|
rs886059035
|
|
|
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=)
|
rs1743319957
|
|
|
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=)
|
rs886059034
|
|
|
NM_003619.4(PRSS12):c.1917-4T>C
|
rs1743223579
|
|
|
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
|
|
|
|
NM_003619.4(PRSS12):c.195C>T (p.Phe65=)
|
rs1671147684
|
|
|
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser)
|
rs371384574
|
|
|
NM_003619.4(PRSS12):c.2040-1G>C
|
rs780630558
|
|
|
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly)
|
rs369577707
|
|
|
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His)
|
rs558433873
|
|
|
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
|
|
|
|
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)
|
rs767822958
|
|
|
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys)
|
rs1724538705
|
|
|
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg)
|
rs1191488477
|
|
|
NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)
|
|
|
|
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu)
|
rs755655664
|
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
|
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp)
|
rs72677056
|
|
|
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn)
|
rs1723924890
|
|
|
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu)
|
rs1723924725
|
|
|
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)
|
rs1217293329
|
|
|
NM_003754.3(EIF3F):c.*24C>T
|
rs15879
|
|
|
NM_003754.3(EIF3F):c.653+3G>T
|
rs200275224
|
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
|
NM_003754.3(EIF3F):c.861dup (p.Gln288fs)
|
rs2133674310
|
|
|
NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)
|
|
|
|
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe)
|
rs199846727
|
|
|
NM_004130.4(GYG1):c.1005A>C (p.Ala335=)
|
rs2107925024
|
|
|
NM_004130.4(GYG1):c.1016ACA[1] (p.Asn340del)
|
rs1368197366
|
|
|
NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)
|
|
|
|
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
|
rs759064665
|
|
|
NM_004130.4(GYG1):c.105G>A (p.Leu35=)
|
|
|
|
NM_004130.4(GYG1):c.108C>T (p.Val36=)
|
|
|
|
NM_004130.4(GYG1):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)
|
|
|
|
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_004130.4(GYG1):c.143+19C>A
|
|
|
|
NM_004130.4(GYG1):c.143+3G>T
|
|
|
|
NM_004130.4(GYG1):c.144-11T>G
|
|
|
|
NM_004130.4(GYG1):c.144-16G>A
|
|
|
|
NM_004130.4(GYG1):c.154G>T (p.Glu52Ter)
|
rs1559834349
|
|
|
NM_004130.4(GYG1):c.160G>T (p.Val54Phe)
|
|
|
|
NM_004130.4(GYG1):c.174C>T (p.Val58=)
|
rs751279594
|
|
|
NM_004130.4(GYG1):c.179T>C (p.Met60Thr)
|
rs2107886926
|
|
|
NM_004130.4(GYG1):c.183A>G (p.Val61=)
|
|
|
|
NM_004130.4(GYG1):c.201C>A (p.Gly67=)
|
|
|
|
NM_004130.4(GYG1):c.203A>G (p.Asp68Gly)
|
rs1712787449
|
|
|
NM_004130.4(GYG1):c.221T>A (p.Leu74Ter)
|
|
|
|
NM_004130.4(GYG1):c.234A>G (p.Pro78=)
|
|
|
|
NM_004130.4(GYG1):c.240G>A (p.Leu80=)
|
|
|
|
NM_004130.4(GYG1):c.248C>G (p.Thr83Arg)
|
rs267606858
|
|
|
NM_004130.4(GYG1):c.248C>T (p.Thr83Met)
|
rs267606858
|
|
|
NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)
|
|
|
|
NM_004130.4(GYG1):c.25C>G (p.Leu9Val)
|
rs111907916
|
|
|
NM_004130.4(GYG1):c.25C>T (p.Leu9=)
|
|
|
|
NM_004130.4(GYG1):c.261C>T (p.Leu87=)
|
|
|
|
NM_004130.4(GYG1):c.26dup (p.Thr10fs)
|
|
|
|
NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)
|
|
|
|
NM_004130.4(GYG1):c.273G>A (p.Ser91=)
|
|
|
|
NM_004130.4(GYG1):c.318+20T>G
|
|
|
|
NM_004130.4(GYG1):c.318+6T>A
|
|
|
|
NM_004130.4(GYG1):c.319-19C>G
|
rs144099043
|
|
|
NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)
|
|
|
|
NM_004130.4(GYG1):c.337G>C (p.Asp113His)
|
rs968503138
|
|
|
NM_004130.4(GYG1):c.339T>A (p.Asp113Glu)
|
rs781200988
|
|
|
NM_004130.4(GYG1):c.352_353del (p.Glu118fs)
|
|
|
|
NM_004130.4(GYG1):c.36C>G (p.Asn12Lys)
|
rs761710847
|
|
|
NM_004130.4(GYG1):c.370C>T (p.Pro124Ser)
|
rs1712821278
|
|
|
NM_004130.4(GYG1):c.375C>T (p.Asp125=)
|
|
|
|
NM_004130.4(GYG1):c.384G>A (p.Trp128Ter)
|
|
|
|
NM_004130.4(GYG1):c.3G>C (p.Met1Ile)
|
rs1365446658
|
|
|
NM_004130.4(GYG1):c.411C>T (p.Phe137=)
|
|
|
|
NM_004130.4(GYG1):c.425C>T (p.Ser142Leu)
|
rs1576538459
|
|
|
NM_004130.4(GYG1):c.429T>C (p.Val143=)
|
|
|
|
NM_004130.4(GYG1):c.440A>G (p.Asn147Ser)
|
|
|
|
NM_004130.4(GYG1):c.442C>A (p.Gln148Lys)
|
|
|
|
NM_004130.4(GYG1):c.452A>G (p.His151Arg)
|
rs35054019
|
|
|
NM_004130.4(GYG1):c.452A>T (p.His151Leu)
|
rs35054019
|
|
|
NM_004130.4(GYG1):c.482-14T>A
|
rs1365158355
|
|
|
NM_004130.4(GYG1):c.482-1G>C
|
|
|
|
NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)
|
|
|
|
NM_004130.4(GYG1):c.487G>A (p.Asp163Asn)
|
rs2107902685
|
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
|
NM_004130.4(GYG1):c.490C>T (p.Gln164Ter)
|
|
|
|
NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)
|
|
|
|
NM_004130.4(GYG1):c.501G>A (p.Leu167=)
|
|
|
|
NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)
|
|
|
|
NM_004130.4(GYG1):c.533A>T (p.Asp178Val)
|
rs752987232
|
|
|
NM_004130.4(GYG1):c.555T>C (p.Phe185=)
|
|
|
|
NM_004130.4(GYG1):c.56C>T (p.Ala19Val)
|
|
|
|
NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)
|
|
|
|
NM_004130.4(GYG1):c.597G>A (p.Pro199=)
|
|
|
|
NM_004130.4(GYG1):c.597G>T (p.Pro199=)
|
|
|
|
NM_004130.4(GYG1):c.599C>T (p.Ala200Val)
|
|
|
|
NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)
|
|
|
|
NM_004130.4(GYG1):c.607G>A (p.Val203Met)
|
|
|
|
NM_004130.4(GYG1):c.609-10C>T
|
|
|
|
NM_004130.4(GYG1):c.609-11T>A
|
|
|
|
NM_004130.4(GYG1):c.609-13G>A
|
|
|
|
NM_004130.4(GYG1):c.609-15dup
|
|
|
|
NM_004130.4(GYG1):c.609-16T>C
|
rs998673604
|
|
|
NM_004130.4(GYG1):c.60G>T (p.Leu20=)
|
rs145419359
|
|
|
NM_004130.4(GYG1):c.615T>G (p.Gly205=)
|
|
|
|
NM_004130.4(GYG1):c.633G>A (p.Val211=)
|
|
|
|
NM_004130.4(GYG1):c.646C>T (p.Arg216Ter)
|
|
|
|
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln)
|
rs1035133767
|
|
|
NM_004130.4(GYG1):c.657A>G (p.Pro219=)
|
|
|
|
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr)
|
rs1412348949
|
|
|
NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)
|
|
|
|
NM_004130.4(GYG1):c.672T>C (p.Tyr224=)
|
|
|
|
NM_004130.4(GYG1):c.683del (p.Thr228fs)
|
|
|
|
NM_004130.4(GYG1):c.7+17C>G
|
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
|
NM_004130.4(GYG1):c.705C>T (p.Ala235=)
|
|
|
|
NM_004130.4(GYG1):c.738C>T (p.Leu246=)
|
|
|
|
NM_004130.4(GYG1):c.749G>A (p.Trp250Ter)
|
rs727502870
|
|
|
NM_004130.4(GYG1):c.750G>T (p.Trp250Cys)
|
|
|
|
NM_004130.4(GYG1):c.752A>T (p.Asn251Ile)
|
|
|
|
NM_004130.4(GYG1):c.764C>T (p.Thr255Ile)
|
rs2107921962
|
|
|
NM_004130.4(GYG1):c.765C>T (p.Thr255=)
|
|
|
|
NM_004130.4(GYG1):c.769G>A (p.Val257Ile)
|
|
|
|
NM_004130.4(GYG1):c.8-13T>C
|
|
|
|
NM_004130.4(GYG1):c.810C>G (p.Thr270=)
|
|
|
|
NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)
|
|
|
|
NM_004130.4(GYG1):c.815C>T (p.Ser272Leu)
|
rs1226277771
|
|
|
NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter)
|
rs1714533252
|
|
|
NM_004130.4(GYG1):c.820G>A (p.Val274Ile)
|
|
|
|
NM_004130.4(GYG1):c.828+9T>C
|
|
|
|
NM_004130.4(GYG1):c.829-17T>C
|
rs2107924343
|
|
|
NM_004130.4(GYG1):c.829-5T>C
|
|
|
|
NM_004130.4(GYG1):c.829-9T>C
|
|
|
|
NM_004130.4(GYG1):c.82C>T (p.Gln28Ter)
|
|
|
|
NM_004130.4(GYG1):c.844_845insG (p.Tyr282Ter)
|
|
|
|
NM_004130.4(GYG1):c.844dup (p.Tyr282fs)
|
|
|
|
NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)
|
|
|
|
NM_004130.4(GYG1):c.865G>A (p.Gly289Ser)
|
rs1167301212
|
|
|
NM_004130.4(GYG1):c.866G>T (p.Gly289Val)
|
rs1553733613
|
|
|
NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)
|
|
|
|
NM_004130.4(GYG1):c.879+14A>G
|
|
|
|
NM_004130.4(GYG1):c.879+16A>G
|
rs2107924455
|
|
|
NM_004130.4(GYG1):c.880-17T>C
|
|
|
|
NM_004130.4(GYG1):c.880-19A>G
|
|
|
|
NM_004130.4(GYG1):c.880-7T>C
|
|
|
|
NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)
|
|
|
|
NM_004130.4(GYG1):c.883G>A (p.Asp295Asn)
|
rs202085215
|
|
|
NM_004130.4(GYG1):c.890C>T (p.Ser297Leu)
|
rs2107924774
|
|
|
NM_004130.4(GYG1):c.896C>T (p.Ala299Val)
|
|
|
|
NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)
|
|
|
|
NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)
|
|
|
|
NM_004130.4(GYG1):c.933G>A (p.Met311Ile)
|
rs2107924879
|
|
|
NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)
|
|
|
|
NM_004130.4(GYG1):c.93dup (p.Thr32fs)
|
|
|
|
NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)
|
|
|
|
NM_004130.4(GYG1):c.954G>A (p.Ser318=)
|
|
|
|
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln)
|
rs1714679440
|
|
|
NM_004130.4(GYG1):c.962G>A (p.Arg321Gln)
|
rs566702762
|
|
|
NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)
|
|
|
|
NM_004130.4(GYG1):c.98_100delinsATT (p.Arg33_Arg34delinsAsnTrp)
|
rs2107884534
|
|
|
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)
|
rs201059299
|
|
|
NM_004563.4(PCK2):c.1907G>A (p.Arg636His)
|
rs145739132
|
|
|
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)
|
rs771187723
|
|
|
NM_004830.4(MED23):c.1078-6T>G
|
|
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
|
NM_004830.4(MED23):c.1708T>G (p.Leu570Val)
|
rs1775691162
|
|
|
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)
|
rs745997916
|
|
|
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp)
|
rs1775354988
|
|
|
NM_004830.4(MED23):c.224del (p.Arg75fs)
|
rs2114781844
|
|
|
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)
|
rs760262127
|
|
|
NM_004830.4(MED23):c.2528T>C (p.Leu843Pro)
|
|
|
|
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)
|
rs866726564
|
|
|
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)
|
rs146599947
|
|
|
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)
|
rs527236035
|
|
|
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)
|
rs527236036
|
|
|
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)
|
rs786205583
|
|
|
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)
|
rs2114757071
|
|
|
NM_004830.4(MED23):c.539C>A (p.Ala180Asp)
|
rs2114756866
|
|
|
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)
|
rs1293450628
|
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
|
NM_005271.5(GLUD1):c.*355T>G
|
rs569595849
|
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
|
NM_005271.5(GLUD1):c.-44C>T
|
rs886047379
|
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
|
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala)
|
rs121909735
|
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
|
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.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
|
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.1279-3T>C
|
rs1845868081
|
|
|
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.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
|
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.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
|
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)
|
rs121909734
|
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
|
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)
|
rs121909732
|
|
|
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.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
|
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)
|
rs2133874774
|
|
|
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.446-5634T>C
|
rs1841280208
|
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
|
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.546T>C (p.Ala182=)
|
rs886047378
|
|
|
NM_005271.5(GLUD1):c.582+18A>G
|
|
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
|
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.677T>G (p.Met226Arg)
|
rs886047377
|
|
|
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
|
|
|
|
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.757G>A (p.Ala253Thr)
|
|
|
|
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.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
|
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
|
|
|
|
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_005327.4(HADH):c.-193G>T
|
rs10017687
|
|
|
NM_005327.4(HADH):c.-195A>C
|
rs886058979
|
|
|
NM_005327.4(HADH):c.-195A>G
|
rs886058979
|
|
|
NM_005327.4(HADH):c.-195A>T
|
rs886058979
|
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
|
NM_005327.7(HADH):c.*660_*661del
|
|
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
|
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.118G>A (p.Ala40Thr)
|
rs137853101
|
|
|
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.130C>T (p.Gln44Ter)
|
|
|
|
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.132+6C>G
|
rs772843585
|
|
|
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.166_169del (p.Val56fs)
|
|
|
|
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.21G>A (p.Gln7=)
|
rs886058980
|
|
|
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+1G>A
|
rs1398546361
|
|
|
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.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
|
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.419+1G>A
|
|
|
|
NM_005327.7(HADH):c.419+1G>C
|
|
|
|
NM_005327.7(HADH):c.419+39del
|
rs550348868
|
|
|
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.424dup (p.Thr142fs)
|
|
|
|
NM_005327.7(HADH):c.426A>G (p.Thr142=)
|
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
|
NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
|
|
|
|
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.547-3_549del
|
rs2126234459
|
|
|
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.617del (p.Lys206fs)
|
rs1735963864
|
|
|
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+2_636+3insCT
|
rs2126234552
|
|
|
NM_005327.7(HADH):c.636+471G>T
|
rs786200932
|
|
|
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.688G>A (p.Ala230Thr)
|
rs780574282
|
|
|
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.710-822C>A
|
rs183387994
|
|
|
NM_005327.7(HADH):c.710-822C>T
|
rs183387994
|
|
|
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.773C>T (p.Pro258Leu)
|
rs137853103
|
|
|
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.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
|
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_005536.4(IMPA1):c.489_493dup (p.Ser165fs)
|
rs1057519491
|
|
|
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp)
|
rs1260261553
|
|
|
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)
|
rs1308325707
|
|
|
NM_005566.3(LDHA):c.-152dup
|
rs371317664
|
|
|
NM_005566.4(LDHA):c.*18T>C
|
rs1866725270
|
|
|
NM_005566.4(LDHA):c.*48C>T
|
rs1866727073
|
|
|
NM_005566.4(LDHA):c.*501C>A
|
rs886048090
|
|
|
NM_005566.4(LDHA):c.*52G>T
|
rs1866727649
|
|
|
NM_005566.4(LDHA):c.*586A>G
|
rs886048091
|
|
|
NM_005566.4(LDHA):c.*694C>T
|
rs1866763337
|
|
|
NM_005566.4(LDHA):c.117C>G (p.Ile39Met)
|
rs756599511
|
|
|
NM_005566.4(LDHA):c.121A>G (p.Met41Val)
|
|
|
|
NM_005566.4(LDHA):c.126+17C>T
|
|
|
|
NM_005566.4(LDHA):c.126+2T>C
|
|
|
|
NM_005566.4(LDHA):c.126+3_126+6del
|
rs776715682
|
|
|
NM_005566.4(LDHA):c.126G>A (p.Lys42=)
|
|
|
|
NM_005566.4(LDHA):c.138T>C (p.Asp46=)
|
rs2134021527
|
|
|
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg)
|
rs2134021578
|
|
|
NM_005566.4(LDHA):c.172T>C (p.Leu58=)
|
|
|
|
NM_005566.4(LDHA):c.189G>A (p.Met63Ile)
|
|
|
|
NM_005566.4(LDHA):c.231T>C (p.Ile77=)
|
|
|
|
NM_005566.4(LDHA):c.244G>A (p.Asp82Asn)
|
|
|
|
NM_005566.4(LDHA):c.245-11C>T
|
|
|
|
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)
|
|
|
|
NM_005566.4(LDHA):c.273G>C (p.Leu91=)
|
|
|
|
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)
|
|
|
|
NM_005566.4(LDHA):c.300G>A (p.Gln100=)
|
|
|
|
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)
|
|
|
|
NM_005566.4(LDHA):c.315C>T (p.Ser105=)
|
|
|
|
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
|
|
|
|
NM_005566.4(LDHA):c.339C>T (p.Asn113=)
|
|
|
|
NM_005566.4(LDHA):c.340G>A (p.Val114Met)
|
|
|
|
NM_005566.4(LDHA):c.369TGT[1] (p.Val125del)
|
|
|
|
NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)
|
|
|
|
NM_005566.4(LDHA):c.386C>T (p.Pro129Leu)
|
|
|
|
NM_005566.4(LDHA):c.396G>T (p.Lys132Asn)
|
|
|
|
NM_005566.4(LDHA):c.410C>A (p.Ser137Ter)
|
|
|
|
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_005566.4(LDHA):c.419-16T>G
|
|
|
|
NM_005566.4(LDHA):c.436G>A (p.Val146Met)
|
|
|
|
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)
|
|
|
|
NM_005566.4(LDHA):c.460C>T (p.Pro154Ser)
|
|
|
|
NM_005566.4(LDHA):c.470G>A (p.Arg157His)
|
rs368815124
|
|
|
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)
|
rs768761936
|
|
|
NM_005566.4(LDHA):c.484G>A (p.Gly162Ser)
|
|
|
|
NM_005566.4(LDHA):c.493C>A (p.Leu165Met)
|
|
|
|
NM_005566.4(LDHA):c.505C>T (p.Arg169Ter)
|
|
|
|
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)
|
|
|
|
NM_005566.4(LDHA):c.538G>T (p.Val180Phe)
|
rs200586792
|
|
|
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)
|
|
|
|
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_005566.4(LDHA):c.543C>T (p.His181=)
|
|
|
|
NM_005566.4(LDHA):c.57C>G (p.Pro19=)
|
|
|
|
NM_005566.4(LDHA):c.592+17T>G
|
|
|
|
NM_005566.4(LDHA):c.592+7A>G
|
rs770770614
|
|
|
NM_005566.4(LDHA):c.593-11A>G
|
|
|
|
NM_005566.4(LDHA):c.593-20G>A
|
|
|
|
NM_005566.4(LDHA):c.593-7C>A
|
rs1866576661
|
|
|
NM_005566.4(LDHA):c.631_632dup (p.Leu211_Lys212insTer)
|
|
|
|
NM_005566.4(LDHA):c.675del (p.Glu225fs)
|
rs751851558
|
|
|
NM_005566.4(LDHA):c.710+16A>T
|
|
|
|
NM_005566.4(LDHA):c.710+19T>C
|
rs1430822822
|
|
|
NM_005566.4(LDHA):c.710+5T>C
|
|
|
|
NM_005566.4(LDHA):c.711-19A>G
|
|
|
|
NM_005566.4(LDHA):c.711-3C>T
|
|
|
|
NM_005566.4(LDHA):c.732C>T (p.Leu244=)
|
|
|
|
NM_005566.4(LDHA):c.759_778del (p.Leu254fs)
|
|
|
|
NM_005566.4(LDHA):c.762C>G (p.Leu254=)
|
|
|
|
NM_005566.4(LDHA):c.764_765del (p.Ser255fs)
|
rs779893062
|
|
|
NM_005566.4(LDHA):c.766G>A (p.Val256Ile)
|
|
|
|
NM_005566.4(LDHA):c.768A>C (p.Val256=)
|
|
|
|
NM_005566.4(LDHA):c.7A>G (p.Thr3Ala)
|
|
|
|
NM_005566.4(LDHA):c.803G>A (p.Arg268Lys)
|
|
|
|
NM_005566.4(LDHA):c.808G>T (p.Val270Leu)
|
|
|
|
NM_005566.4(LDHA):c.810G>A (p.Val270=)
|
|
|
|
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
|
|
|
|
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)
|
|
|
|
NM_005566.4(LDHA):c.834+20C>T
|
|
|
|
NM_005566.4(LDHA):c.835-14C>T
|
|
|
|
NM_005566.4(LDHA):c.835-14_835-11del
|
|
|
|
NM_005566.4(LDHA):c.835-8A>C
|
|
|
|
NM_005566.4(LDHA):c.83T>C (p.Val28Ala)
|
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
|
NM_005566.4(LDHA):c.854A>T (p.Asp285Val)
|
|
|
|
NM_005566.4(LDHA):c.861C>T (p.Val287=)
|
|
|
|
NM_005566.4(LDHA):c.882T>C (p.Ile294=)
|
|
|
|
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro)
|
rs1866719004
|
|
|
NM_005566.4(LDHA):c.933G>A (p.Glu311=)
|
|
|
|
NM_005566.4(LDHA):c.941C>T (p.Ala314Val)
|
|
|
|
NM_005566.4(LDHA):c.942C>G (p.Ala314=)
|
|
|
|
NM_005566.4(LDHA):c.943C>T (p.Arg315Cys)
|
|
|
|
NM_005566.4(LDHA):c.975G>T (p.Gly325=)
|
rs1866722555
|
|
|
NM_005566.4(LDHA):c.984G>A (p.Lys328=)
|
rs1866722699
|
|
|
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter)
|
rs121912479
|
|
|
NM_005566.4(LDHA):c.999_*1del (p.Phe332_Ter333insTer)
|
|
|
|
NM_005609.2(PYGM):c.-556C>G
|
rs886048467
|
|
|
NM_005609.2(PYGM):c.-668C>T
|
rs886048468
|
|
|
NM_005609.4(PYGM):c.-23G>A
|
rs886048465
|
|
|
NM_005609.4(PYGM):c.1000-12C>T
|
|
|
|
NM_005609.4(PYGM):c.1000-13C>A
|
|
|
|
NM_005609.4(PYGM):c.1000-15C>T
|
|
|
|
NM_005609.4(PYGM):c.1000-15del
|
|
|
|
NM_005609.4(PYGM):c.1000-17C>T
|
|
|
|
NM_005609.4(PYGM):c.1000-18C>T
|
|
|
|
NM_005609.4(PYGM):c.1000-20G>T
|
|
|
|
NM_005609.4(PYGM):c.1000-24_1000-14dup
|
|
|
|
NM_005609.4(PYGM):c.1000-6C>T
|
rs2135834766
|
|
|
NM_005609.4(PYGM):c.1000-9C>G
|
rs2135834771
|
|
|
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
|
|
|
|
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
|
|
|
|
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter)
|
rs2135834746
|
|
|
NM_005609.4(PYGM):c.100C>A (p.Arg34=)
|
rs531748591
|
|
|
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg)
|
|
|
|
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
|
|
|
|
NM_005609.4(PYGM):c.1020C>T (p.Asp340=)
|
rs1376160425
|
|
|
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
|
|
|
|
NM_005609.4(PYGM):c.1029C>T (p.Pro343=)
|
|
|
|
NM_005609.4(PYGM):c.1032C>T (p.Ser344=)
|
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
|
NM_005609.4(PYGM):c.1044del (p.Glu349fs)
|
rs1592412131
|
|
|
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
|
|
|
|
NM_005609.4(PYGM):c.1048C>T (p.Leu350=)
|
|
|
|
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
|
|
|
|
NM_005609.4(PYGM):c.1059C>A (p.Ile353=)
|
rs766772774
|
|
|
NM_005609.4(PYGM):c.105C>T (p.His35=)
|
|
|
|
NM_005609.4(PYGM):c.1060C>T (p.Leu354=)
|
rs560441482
|
|
|
NM_005609.4(PYGM):c.1068C>T (p.Asp356=)
|
|
|
|
NM_005609.4(PYGM):c.106C>T (p.Leu36=)
|
|
|
|
NM_005609.4(PYGM):c.1071G>C (p.Leu357=)
|
|
|
|
NM_005609.4(PYGM):c.1072del (p.Glu358fs)
|
|
|
|
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
|
|
|
|
NM_005609.4(PYGM):c.108del (p.His37fs)
|
|
|
|
NM_005609.4(PYGM):c.1092+1G>C
|
rs749560316
|
|
|
NM_005609.4(PYGM):c.1093-10del
|
|
|
|
NM_005609.4(PYGM):c.1093-13C>A
|
|
|
|
NM_005609.4(PYGM):c.1093-13dup
|
rs1304298343
|
|
|
NM_005609.4(PYGM):c.1093-16C>G
|
|
|
|
NM_005609.4(PYGM):c.1093-18G>T
|
|
|
|
NM_005609.4(PYGM):c.1093-1G>T
|
rs1163710370
|
|
|
NM_005609.4(PYGM):c.1093-20C>T
|
|
|
|
NM_005609.4(PYGM):c.1093-2A>T
|
|
|
|
NM_005609.4(PYGM):c.1093-3C>T
|
|
|
|
NM_005609.4(PYGM):c.1093-6T>C
|
|
|
|
NM_005609.4(PYGM):c.1093-9G>A
|
rs571244371
|
|
|
NM_005609.4(PYGM):c.110A>G (p.His37Arg)
|
rs1170598133
|
|
|
NM_005609.4(PYGM):c.1113G>A (p.Arg371=)
|
rs777245778
|
|
|
NM_005609.4(PYGM):c.1114del (p.Thr372fs)
|
|
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
|
NM_005609.4(PYGM):c.111T>C (p.His37=)
|
rs2135842719
|
|
|
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
|
rs1592411804
|
|
|
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile)
|
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|
|
NM_005609.4(PYGM):c.1128C>T (p.Thr376=)
|
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|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
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|
NM_005609.4(PYGM):c.112_122del (p.Phe38fs)
|
rs2058422018
|
|
|
NM_005609.4(PYGM):c.1134C>A (p.His378Gln)
|
rs2135834122
|
|
|
NM_005609.4(PYGM):c.1137G>A (p.Thr379=)
|
rs756447366
|
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|
NM_005609.4(PYGM):c.1137G>T (p.Thr379=)
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|
NM_005609.4(PYGM):c.1138_1144del (p.Val380fs)
|
rs2135834073
|
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|
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro)
|
rs1156945983
|
|
|
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
|
|
|
|
NM_005609.4(PYGM):c.1149G>A (p.Glu383=)
|
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|
NM_005609.4(PYGM):c.114C>T (p.Phe38=)
|
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|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
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|
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
|
rs2058376262
|
|
|
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)
|
rs2058376345
|
|
|
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln)
|
rs149649134
|
|
|
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
|
|
|
|
NM_005609.4(PYGM):c.1176C>G (p.Leu392=)
|
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|
NM_005609.4(PYGM):c.1179G>A (p.Leu393=)
|
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|
|
NM_005609.4(PYGM):c.117A>G (p.Thr39=)
|
rs2135842695
|
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|
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro)
|
rs119103254
|
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|
NM_005609.4(PYGM):c.1189C>T (p.Leu397=)
|
rs1592411631
|
|
|
NM_005609.4(PYGM):c.1191G>A (p.Leu397=)
|
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|
NM_005609.4(PYGM):c.1195C>A (p.Arg399=)
|
rs747675778
|
|
|
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
|
rs2058375583
|
|
|
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro)
|
rs2135833836
|
|
|
NM_005609.4(PYGM):c.1206G>A (p.Gln402=)
|
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|
NM_005609.4(PYGM):c.120C>A (p.Leu40=)
|
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|
NM_005609.4(PYGM):c.120C>G (p.Leu40=)
|
rs370819554
|
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|
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
|
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|
NM_005609.4(PYGM):c.1212C>T (p.Ile404=)
|
rs2135833826
|
|
|
NM_005609.4(PYGM):c.1218G>A (p.Glu406=)
|
rs757762621
|
|
|
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val)
|
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|
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
|
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|
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
|
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|
|
NM_005609.4(PYGM):c.1224C>T (p.Asn408=)
|
rs1440882452
|
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|
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
|
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|
|
NM_005609.4(PYGM):c.122_126del (p.Val41fs)
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|
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
|
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|
|
NM_005609.4(PYGM):c.1239+13G>C
|
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|
NM_005609.4(PYGM):c.1239+17G>T
|
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|
NM_005609.4(PYGM):c.1239+1G>T
|
rs759657964
|
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|
NM_005609.4(PYGM):c.1239+8C>A
|
rs886048461
|
|
|
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys)
|
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|
|
NM_005609.4(PYGM):c.1239_1239+1delinsAT
|
rs2135833743
|
|
|
NM_005609.4(PYGM):c.1240-13_1240-12delinsAA
|
rs2135833430
|
|
|
NM_005609.4(PYGM):c.1240-19C>A
|
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|
NM_005609.4(PYGM):c.1240-22_1240-20del
|
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|
NM_005609.4(PYGM):c.1240-2A>G
|
rs1212333772
|
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|
NM_005609.4(PYGM):c.1240-9T>C
|
rs2135833424
|
|
|
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)
|
rs11231866
|
|
|
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
|
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|
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
|
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|
NM_005609.4(PYGM):c.1242G>A (p.Arg414=)
|
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|
NM_005609.4(PYGM):c.1245G>A (p.Val415=)
|
rs2135833386
|
|
|
NM_005609.4(PYGM):c.1248G>C (p.Ala416=)
|
|
|
|
NM_005609.4(PYGM):c.1251C>G (p.Ala417=)
|
rs1328262607
|
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|
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
|
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|
|
NM_005609.4(PYGM):c.1254A>G (p.Ala418=)
|
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|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
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|
NM_005609.4(PYGM):c.1260A>C (p.Pro420=)
|
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|
|
NM_005609.4(PYGM):c.1260A>T (p.Pro420=)
|
rs2135833329
|
|
|
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
|
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|
NM_005609.4(PYGM):c.1263G>A (p.Gly421=)
|
rs2135833320
|
|
|
NM_005609.4(PYGM):c.1263G>C (p.Gly421=)
|
|
|
|
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
|
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|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_005609.4(PYGM):c.126G>A (p.Lys42=)
|
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|
|
NM_005609.4(PYGM):c.1273C>A (p.Arg425=)
|
rs577821154
|
|
|
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp)
|
rs577821154
|
|
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
|
|
NM_005609.4(PYGM):c.1275G>C (p.Arg425=)
|
|
|
|
NM_005609.4(PYGM):c.1275G>T (p.Arg425=)
|
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|
|
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
|
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
|
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
|
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
|
|
|
|
NM_005609.4(PYGM):c.1284C>T (p.Arg428=)
|
|
|
|
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del)
|
|
|
|
NM_005609.4(PYGM):c.129_150del (p.Asp43fs)
|
rs2058421657
|
|
|
NM_005609.4(PYGM):c.1302G>A (p.Glu434=)
|
|
|
|
NM_005609.4(PYGM):c.1305C>A (p.Gly435=)
|
|
|
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
|
|
|
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
|
|
|
|
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup)
|
rs1555135069
|
|
|
NM_005609.4(PYGM):c.1320C>A (p.Ile440=)
|
|
|
|
NM_005609.4(PYGM):c.1323C>T (p.Asn441=)
|
rs1202544673
|
|
|
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
|
|
|
|
NM_005609.4(PYGM):c.1333C>T (p.Leu445=)
|
rs2135833136
|
|
|
NM_005609.4(PYGM):c.1338C>T (p.Cys446=)
|
|
|
|
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs)
|
|
|
|
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)
|
rs568496266
|
|
|
NM_005609.4(PYGM):c.1341C>T (p.Ile447=)
|
rs1483894861
|
|
|
NM_005609.4(PYGM):c.1344G>A (p.Ala448=)
|
rs1466751658
|
|
|
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
|
|
|
|
NM_005609.4(PYGM):c.1350G>A (p.Ser450=)
|
rs1399322723
|
|
|
NM_005609.4(PYGM):c.1350G>T (p.Ser450=)
|
rs1399322723
|
|
|
NM_005609.4(PYGM):c.1352_1372del (p.His451_Ala457del)
|
|
|
|
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
|
|
|
|
NM_005609.4(PYGM):c.1356C>G (p.Ala452=)
|
rs756953943
|
|
|
NM_005609.4(PYGM):c.1356C>T (p.Ala452=)
|
rs756953943
|
|
|
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
|
|
|
|
NM_005609.4(PYGM):c.1358_1364del (p.Val453fs)
|
rs2135833005
|
|
|
NM_005609.4(PYGM):c.135T>C (p.Asn45=)
|
rs2058421873
|
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
|
|
|
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
|
|
|
|
NM_005609.4(PYGM):c.1365C>G (p.Gly455=)
|
|
|
|
NM_005609.4(PYGM):c.1368G>A (p.Val456=)
|
|
|
|
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
|
|
|
|
NM_005609.4(PYGM):c.1371G>T (p.Ala457=)
|
|
|
|
NM_005609.4(PYGM):c.1374C>T (p.Arg458=)
|
|
|
|
NM_005609.4(PYGM):c.1379A>G (p.His460Arg)
|
rs2135832903
|
|
|
NM_005609.4(PYGM):c.1383C>G (p.Ser461=)
|
rs775978754
|
|
|
NM_005609.4(PYGM):c.1389C>T (p.Ile463=)
|
|
|
|
NM_005609.4(PYGM):c.138G>A (p.Val46=)
|
rs776928047
|
|
|
NM_005609.4(PYGM):c.1398G>A (p.Lys466=)
|
|
|
|
NM_005609.4(PYGM):c.13_14del (p.Leu5fs)
|
rs772194378
|
|
|
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
|
|
|
|
NM_005609.4(PYGM):c.1403+12T>C
|
|
|
|
NM_005609.4(PYGM):c.1403+15C>G
|
|
|
|
NM_005609.4(PYGM):c.1403+1G>A
|
rs1191939323
|
|
|
NM_005609.4(PYGM):c.1403+1dup
|
|
|
|
NM_005609.4(PYGM):c.1403+7C>A
|
|
|
|
NM_005609.4(PYGM):c.1403+7C>T
|
rs2135832833
|
|
|
NM_005609.4(PYGM):c.1403+8C>A
|
|
|
|
NM_005609.4(PYGM):c.1403+9C>T
|
|
|
|
NM_005609.4(PYGM):c.1404-16C>T
|
|
|
|
NM_005609.4(PYGM):c.1404-19G>A
|
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|
|
NM_005609.4(PYGM):c.1404-20C>T
|
|
|
|
NM_005609.4(PYGM):c.1404-4G>T
|
rs1397436069
|
|
|
NM_005609.4(PYGM):c.1404-9A>C
|
rs2135832402
|
|
|
NM_005609.4(PYGM):c.1419T>C (p.Tyr473=)
|
|
|
|
NM_005609.4(PYGM):c.141C>T (p.Ala47=)
|
|
|
|
NM_005609.4(PYGM):c.141del (p.Thr48fs)
|
|
|
|
NM_005609.4(PYGM):c.1431T>A (p.Pro477=)
|
rs2135832336
|
|
|
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)
|
rs758131128
|
|
|
NM_005609.4(PYGM):c.1437G>A (p.Lys479=)
|
rs2058368149
|
|
|
NM_005609.4(PYGM):c.1440C>T (p.Phe480=)
|
rs2135832303
|
|
|
NM_005609.4(PYGM):c.1443G>C (p.Gln481His)
|
rs767125939
|
|
|
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs)
|
|
|
|
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr)
|
rs2135832293
|
|
|
NM_005609.4(PYGM):c.1458C>G (p.Gly486=)
|
|
|
|
NM_005609.4(PYGM):c.1461C>A (p.Ile487=)
|
|
|
|
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn)
|
rs1555134900
|
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
|
|
|
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
|
|
|
|
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
|
|
|
|
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
|
|
|
|
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
|
|
|
|
NM_005609.4(PYGM):c.1477del (p.Leu493fs)
|
rs2058367842
|
|
|
NM_005609.4(PYGM):c.1498C>T (p.Leu500=)
|
rs2058367583
|
|
|
NM_005609.4(PYGM):c.1506G>A (p.Glu502=)
|
rs2058367541
|
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
|
NM_005609.4(PYGM):c.150A>G (p.Arg50=)
|
|
|
|
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
|
|
|
|
NM_005609.4(PYGM):c.1515T>C (p.Ala505=)
|
|
|
|
NM_005609.4(PYGM):c.1518+10C>T
|
|
|
|
NM_005609.4(PYGM):c.1518+12C>T
|
|
|
|
NM_005609.4(PYGM):c.1518+13C>T
|
|
|
|
NM_005609.4(PYGM):c.1518+15T>C
|
|
|
|
NM_005609.4(PYGM):c.1518+18G>A
|
|
|
|
NM_005609.4(PYGM):c.1518+7G>C
|
rs749236693
|
|
|
NM_005609.4(PYGM):c.1519-11T>C
|
|
|
|
NM_005609.4(PYGM):c.1519-13C>G
|
|
|
|
NM_005609.4(PYGM):c.1519-13C>T
|
|
|
|
NM_005609.4(PYGM):c.1519-14C>A
|
|
|
|
NM_005609.4(PYGM):c.1519-1G>A
|
rs2135831491
|
|
|
NM_005609.4(PYGM):c.1519-5C>T
|
rs1006803617
|
|
|
NM_005609.4(PYGM):c.1519-5del
|
|
|
|
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
|
|
|
|
NM_005609.4(PYGM):c.1523del (p.Ile508fs)
|
rs2135831473
|
|
|
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
|
|
|
|
NM_005609.4(PYGM):c.1524C>T (p.Ile508=)
|
rs540436223
|
|
|
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs)
|
rs1057516612
|
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
|
|
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del)
|
rs1325298827
|
|
|
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup)
|
rs1325298827
|
|
|
NM_005609.4(PYGM):c.1531del (p.Asp511fs)
|
rs2058363821
|
|
|
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
|
|
|
|
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
|
|
|
|
NM_005609.4(PYGM):c.1536C>T (p.Phe512=)
|
|
|
|
NM_005609.4(PYGM):c.1542T>C (p.Ser514=)
|
rs2135831386
|
|
|
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
|
|
|
|
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
|
rs2058363627
|
|
|
NM_005609.4(PYGM):c.1551C>T (p.Asp517=)
|
|
|
|
NM_005609.4(PYGM):c.1555C>T (p.Leu519=)
|
rs774694090
|
|
|
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter)
|
rs1592410003
|
|
|
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
|
|
|
|
NM_005609.4(PYGM):c.1569C>T (p.Leu523=)
|
rs114138772
|
|
|
NM_005609.4(PYGM):c.156C>T (p.Tyr52=)
|
|
|
|
NM_005609.4(PYGM):c.157del (p.Tyr53fs)
|
rs2135842587
|
|
|
NM_005609.4(PYGM):c.15G>C (p.Leu5=)
|
rs886038565
|
|
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
|
|
|
NM_005609.4(PYGM):c.1602T>C (p.Asp534=)
|
rs2135831234
|
|
|
NM_005609.4(PYGM):c.1608C>G (p.Ala536=)
|
|
|
|
NM_005609.4(PYGM):c.1608C>T (p.Ala536=)
|
rs2058362978
|
|
|
NM_005609.4(PYGM):c.1614G>A (p.Val538=)
|
rs747854789
|
|
|
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
|
|
|
|
NM_005609.4(PYGM):c.1620+13G>A
|
|
|
|
NM_005609.4(PYGM):c.1620+16A>G
|
|
|
|
NM_005609.4(PYGM):c.1620+17T>C
|
|
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
|
NM_005609.4(PYGM):c.1620+1G>T
|
|
|
|
NM_005609.4(PYGM):c.1620+5G>T
|
rs2135831177
|
|
|
NM_005609.4(PYGM):c.1620+6G>A
|
rs2058362817
|
|
|
NM_005609.4(PYGM):c.1620+7A>G
|
|
|
|
NM_005609.4(PYGM):c.1621-15C>T
|
|
|
|
NM_005609.4(PYGM):c.1621-16C>G
|
|
|
|
NM_005609.4(PYGM):c.1621-17C>T
|
|
|
|
NM_005609.4(PYGM):c.1621-18C>G
|
|
|
|
NM_005609.4(PYGM):c.1621-19del
|
rs571976523
|
|
|
NM_005609.4(PYGM):c.1621-20T>C
|
|
|
|
NM_005609.4(PYGM):c.1621-8G>A
|
|
|
|
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter)
|
rs119103257
|
|
|
NM_005609.4(PYGM):c.1623A>G (p.Glu541=)
|
rs1592409772
|
|
|
NM_005609.4(PYGM):c.1626C>T (p.Asn542=)
|
|
|
|
NM_005609.4(PYGM):c.1629G>A (p.Lys543=)
|
rs2058360665
|
|
|
NM_005609.4(PYGM):c.1630T>C (p.Leu544=)
|
rs973893149
|
|
|
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
|
|
|
|
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
|
rs780193588
|
|
|
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
|
|
|
|
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)
|
rs1311913891
|
|
|
NM_005609.4(PYGM):c.166C>T (p.Leu56=)
|
rs2135842567
|
|
|
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
|
|
|
|
NM_005609.4(PYGM):c.1673dup (p.Asn559fs)
|
|
|
|
NM_005609.4(PYGM):c.1680del (p.Asn561fs)
|
rs1057516259
|
|
|
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
|
|
|
|
NM_005609.4(PYGM):c.1686A>C (p.Ser562=)
|
|
|
|
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
|
|
|
|
NM_005609.4(PYGM):c.1695C>T (p.Asp565=)
|
rs2058360148
|
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
|
NM_005609.4(PYGM):c.1719A>G (p.Glu573=)
|
rs2135830648
|
|
|
NM_005609.4(PYGM):c.1722T>C (p.Tyr574=)
|
|
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
|
NM_005609.4(PYGM):c.1725del (p.Lys575fs)
|
rs786200874
|
|
|
NM_005609.4(PYGM):c.1726C>A (p.Arg576=)
|
|
|
|
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)
|
rs759218298
|
|
|
NM_005609.4(PYGM):c.1731G>A (p.Gln577=)
|
|
|
|
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del)
|
rs1592409633
|
|
|
NM_005609.4(PYGM):c.1734C>T (p.Leu578=)
|
|
|
|
NM_005609.4(PYGM):c.1737C>T (p.Leu579=)
|
|
|
|
NM_005609.4(PYGM):c.1742del (p.Cys581fs)
|
rs1592409631
|
|
|
NM_005609.4(PYGM):c.1752C>T (p.Val584=)
|
|
|
|
NM_005609.4(PYGM):c.1758C>T (p.Thr586=)
|
rs2135830553
|
|
|
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
|
|
|
|
NM_005609.4(PYGM):c.1764C>T (p.Tyr588=)
|
|
|
|
NM_005609.4(PYGM):c.1768+13C>G
|
|
|
|
NM_005609.4(PYGM):c.1768+17C>G
|
|
|
|
NM_005609.4(PYGM):c.1768+19A>G
|
|
|
|
NM_005609.4(PYGM):c.1768+8_1768+11dup
|
|
|
|
NM_005609.4(PYGM):c.1769-12G>C
|
|
|
|
NM_005609.4(PYGM):c.1769-13C>T
|
|
|
|
NM_005609.4(PYGM):c.1769-16T>C
|
|
|
|
NM_005609.4(PYGM):c.1769-19C>A
|
|
|
|
NM_005609.4(PYGM):c.1769-1G>A
|
rs2058357329
|
|
|
NM_005609.4(PYGM):c.1769-4A>C
|
rs1592409359
|
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
|
NM_005609.4(PYGM):c.1769-8C>T
|
rs2135830209
|
|
|
NM_005609.4(PYGM):c.1769-9T>A
|
rs1022322449
|
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
|
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter)
|
rs2135830163
|
|
|
NM_005609.4(PYGM):c.1776G>A (p.Lys592=)
|
|
|
|
NM_005609.4(PYGM):c.177C>A (p.Thr59=)
|
rs753355735
|
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
|
NM_005609.4(PYGM):c.1788T>C (p.Asn596=)
|
|
|
|
NM_005609.4(PYGM):c.1791G>A (p.Lys597=)
|
rs1392210978
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
|
NM_005609.4(PYGM):c.1809T>C (p.Thr603=)
|
rs2135830103
|
|
|
NM_005609.4(PYGM):c.180G>A (p.Val60=)
|
rs1395197579
|
|
|
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
|
|
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
|
NM_005609.4(PYGM):c.1824G>C (p.Gly608=)
|
rs968462901
|
|
|
NM_005609.4(PYGM):c.1827+10C>T
|
rs1255226594
|
|
|
NM_005609.4(PYGM):c.1827+13G>C
|
|
|
|
NM_005609.4(PYGM):c.1827+17C>T
|
|
|
|
NM_005609.4(PYGM):c.1827+18A>C
|
|
|
|
NM_005609.4(PYGM):c.1827+1G>C
|
rs1057517442
|
|
|
NM_005609.4(PYGM):c.1827+20C>T
|
|
|
|
NM_005609.4(PYGM):c.1827+9C>A
|
|
|
|
NM_005609.4(PYGM):c.1828-11T>C
|
|
|
|
NM_005609.4(PYGM):c.1828-11_1828-9del
|
|
|
|
NM_005609.4(PYGM):c.1828-16G>C
|
|
|
|
NM_005609.4(PYGM):c.1828-19C>T
|
|
|
|
NM_005609.4(PYGM):c.1828-1G>A
|
|
|
|
NM_005609.4(PYGM):c.1828-1G>T
|
|
|
|
NM_005609.4(PYGM):c.1828-2A>G
|
rs2135829883
|
|
|
NM_005609.4(PYGM):c.1828-5C>A
|
|
|
|
NM_005609.4(PYGM):c.1828-7C>A
|
|
|
|
NM_005609.4(PYGM):c.1828-8C>T
|
|
|
|
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
|
|
|
|
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala)
|
rs1419658107
|
|
|
NM_005609.4(PYGM):c.1842C>T (p.Tyr614=)
|
|
|
|
NM_005609.4(PYGM):c.1845C>T (p.His615=)
|
rs552502008
|
|
|
NM_005609.4(PYGM):c.1853dup (p.Met619fs)
|
rs2135829844
|
|
|
NM_005609.4(PYGM):c.1863C>T (p.Ile621=)
|
rs1592409104
|
|
|
NM_005609.4(PYGM):c.1869C>A (p.Leu623=)
|
rs144764922
|
|
|
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile)
|
|
|
|
NM_005609.4(PYGM):c.1902C>T (p.Asp634=)
|
rs776043985
|
|
|
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
|
|
|
|
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr)
|
rs1592409000
|
|
|
NM_005609.4(PYGM):c.1917C>T (p.Asp639=)
|
rs1565533767
|
|
|
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
|
|
|
NM_005609.4(PYGM):c.1923C>G (p.Leu641=)
|
|
|
|
NM_005609.4(PYGM):c.192C>T (p.Leu64=)
|
rs912904130
|
|
|
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
|
|
|
|
NM_005609.4(PYGM):c.1947C>T (p.Tyr649=)
|
|
|
|
NM_005609.4(PYGM):c.1948del (p.Arg650fs)
|
rs2058354383
|
|
|
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
|
|
|
|
NM_005609.4(PYGM):c.1953C>A (p.Val651=)
|
rs2058354200
|
|
|
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
|
|
|
|
NM_005609.4(PYGM):c.1962C>A (p.Ala654=)
|
rs368964406
|
|
|
NM_005609.4(PYGM):c.1962C>G (p.Ala654=)
|
rs368964406
|
|
|
NM_005609.4(PYGM):c.1969+16_1969+17del
|
|
|
|
NM_005609.4(PYGM):c.1969+1G>A
|
|
|
|
NM_005609.4(PYGM):c.1969+1G>C
|
|
|
|
NM_005609.4(PYGM):c.1969+1G>T
|
rs753181427
|
|
|
NM_005609.4(PYGM):c.1969+20A>G
|
|
|
|
NM_005609.4(PYGM):c.1969+7G>T
|
|
|
|
NM_005609.4(PYGM):c.1969+9T>C
|
|
|
|
NM_005609.4(PYGM):c.1970-17dup
|
|
|
|
NM_005609.4(PYGM):c.1970-19C>T
|
|
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
|
NM_005609.4(PYGM):c.1970-20C>T
|
|
|
|
NM_005609.4(PYGM):c.1970-20_1970-5dup
|
rs747398326
|
|
|
NM_005609.4(PYGM):c.1970-2A>C
|
|
|
|
NM_005609.4(PYGM):c.1970-2A>T
|
rs1064797157
|
|
|
NM_005609.4(PYGM):c.1970-4A>C
|
rs919302363
|
|
|
NM_005609.4(PYGM):c.1970-5C>G
|
|
|
|
NM_005609.4(PYGM):c.1970-6C>T
|
|
|
|
NM_005609.4(PYGM):c.1974C>T (p.Ile658=)
|
|
|
|
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
|
|
|
|
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
|
|
|
|
NM_005609.4(PYGM):c.1986C>T (p.Asp662=)
|
rs1592408469
|
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
|
NM_005609.4(PYGM):c.1992T>C (p.Ser664=)
|
|
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
|
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)
|
|
|
|
NM_005609.4(PYGM):c.1A>C (p.Met1Leu)
|
rs267606993
|
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
|
NM_005609.4(PYGM):c.1A>T (p.Met1Leu)
|
rs267606993
|
|
|
NM_005609.4(PYGM):c.2001C>T (p.Ile667=)
|
rs2058349107
|
|
|
NM_005609.4(PYGM):c.2007T>C (p.Thr669=)
|
rs1330878809
|
|
|
NM_005609.4(PYGM):c.2007T>G (p.Thr669=)
|
rs1330878809
|
|
|
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
|
|
|
|
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr)
|
rs2058348746
|
|
|
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
|
|
|
|
NM_005609.4(PYGM):c.2028C>A (p.Gly676=)
|
|
|
|
NM_005609.4(PYGM):c.2031C>A (p.Thr677=)
|
|
|
|
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg)
|
rs755716626
|
|
|
NM_005609.4(PYGM):c.2043G>A (p.Lys681=)
|
rs2058348408
|
|
|
NM_005609.4(PYGM):c.2047A>G (p.Met683Val)
|
rs1309230359
|
|
|
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
|
NM_005609.4(PYGM):c.2053A>C (p.Asn685His)
|
rs1592408348
|
|
|
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu)
|
|
|
|
NM_005609.4(PYGM):c.2064G>A (p.Leu688=)
|
|
|
|
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs)
|
rs1592408302
|
|
|
NM_005609.4(PYGM):c.2076C>A (p.Thr692=)
|
rs1186035337
|
|
|
NM_005609.4(PYGM):c.207C>T (p.Ile69=)
|
|
|
|
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
|
rs773543072
|
|
|
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
|
|
|
|
NM_005609.4(PYGM):c.2085G>A (p.Gly695=)
|
rs147725917
|
|
|
NM_005609.4(PYGM):c.2085G>T (p.Gly695=)
|
|
|
|
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
|
|
|
|
NM_005609.4(PYGM):c.2088C>T (p.Ala696=)
|
rs2058347562
|
|
|
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
|
|
|
|
NM_005609.4(PYGM):c.2091T>C (p.Asn697=)
|
rs2135828504
|
|
|
NM_005609.4(PYGM):c.2094G>A (p.Val698=)
|
|
|
|
NM_005609.4(PYGM):c.2097G>A (p.Glu699=)
|
rs2058347485
|
|
|
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
|
|
|
|
NM_005609.4(PYGM):c.2113_2114del (p.Gly705fs)
|
rs2058347214
|
|
|
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
|
|
|
|
NM_005609.4(PYGM):c.2118G>A (p.Glu706=)
|
rs2135828438
|
|
|
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
|
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
|
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
|
|
|
|
NM_005609.4(PYGM):c.2127C>T (p.Phe709=)
|
|
|
|
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
|
|
|
|
NM_005609.4(PYGM):c.2133C>T (p.Ile711=)
|
|
|
|
NM_005609.4(PYGM):c.2136dup (p.Gly713fs)
|
rs1057517067
|
|
|
NM_005609.4(PYGM):c.213G>T (p.Thr71=)
|
|
|
|
NM_005609.4(PYGM):c.2143C>A (p.Arg715=)
|
rs780656375
|
|
|
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
|
|
|
|
NM_005609.4(PYGM):c.2151G>A (p.Glu717=)
|
|
|
|
NM_005609.4(PYGM):c.2154del (p.Asp718fs)
|
rs2135828360
|
|
|
NM_005609.4(PYGM):c.2163G>A (p.Lys721=)
|
rs2058346455
|
|
|
NM_005609.4(PYGM):c.216G>A (p.Gln72=)
|
|
|
|
NM_005609.4(PYGM):c.2177+11C>G
|
|
|
|
NM_005609.4(PYGM):c.2177+15G>A
|
|
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
|
NM_005609.4(PYGM):c.2177+1G>T
|
|
|
|
NM_005609.4(PYGM):c.2177+20C>T
|
|
|
|
NM_005609.4(PYGM):c.2177+9G>A
|
rs1592408105
|
|
|
NM_005609.4(PYGM):c.2178-12dup
|
|
|
|
NM_005609.4(PYGM):c.2178-16A>T
|
|
|
|
NM_005609.4(PYGM):c.2178-4del
|
|
|
|
NM_005609.4(PYGM):c.2178-8C>T
|
|
|
|
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter)
|
rs1057517361
|
|
|
NM_005609.4(PYGM):c.2181dup (p.Asn728fs)
|
rs2058321851
|
|
|
NM_005609.4(PYGM):c.2184T>C (p.Asn728=)
|
rs1009359544
|
|
|
NM_005609.4(PYGM):c.2187C>T (p.Ala729=)
|
|
|
|
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs)
|
|
|
|
NM_005609.4(PYGM):c.2190G>A (p.Gln730=)
|
|
|
|
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
|
rs140102591
|
|
|
NM_005609.4(PYGM):c.219_220del (p.His74fs)
|
rs1555136752
|
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
|
NM_005609.4(PYGM):c.2214G>A (p.Glu738=)
|
rs772707447
|
|
|
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)
|
rs370144967
|
|
|
NM_005609.4(PYGM):c.2220G>A (p.Arg740=)
|
|
|
|
NM_005609.4(PYGM):c.2229T>C (p.Ile743=)
|
rs1592405688
|
|
|
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
|
|
|
|
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs)
|
rs1057517058
|
|
|
NM_005609.4(PYGM):c.2238G>A (p.Leu746=)
|
|
|
|
NM_005609.4(PYGM):c.2244T>C (p.Ser748=)
|
|
|
|
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
|
|
|
|
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del)
|
rs758842259
|
|
|
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
|
|
|
|
NM_005609.4(PYGM):c.2253C>T (p.Phe751=)
|
rs1565531467
|
|
|
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs)
|
rs2058320138
|
|
|
NM_005609.4(PYGM):c.2259C>A (p.Pro753=)
|
rs747072799
|
|
|
NM_005609.4(PYGM):c.2259C>G (p.Pro753=)
|
|
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
|
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
|
rs773361937
|
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
|
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
|
|
|
|
NM_005609.4(PYGM):c.2272C>T (p.Leu758=)
|
rs2135824043
|
|
|
NM_005609.4(PYGM):c.2274G>T (p.Leu758=)
|
rs765011069
|
|
|
NM_005609.4(PYGM):c.2274del (p.Phe759fs)
|
|
|
|
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
|
|
|
|
NM_005609.4(PYGM):c.2280G>A (p.Lys760=)
|
|
|
|
NM_005609.4(PYGM):c.2289C>T (p.Val763=)
|
|
|
|
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)
|
|
|
|
NM_005609.4(PYGM):c.2292T>C (p.Asn764=)
|
rs1592405461
|
|
|
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys)
|
rs886048464
|
|
|
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
|
|
|
|
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
|
|
|
|
NM_005609.4(PYGM):c.2307T>C (p.His769=)
|
|
|
|
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly)
|
rs369382075
|
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
|
NM_005609.4(PYGM):c.2312+10T>G
|
rs1173087362
|
|
|
NM_005609.4(PYGM):c.2312+13_2312+50del
|
rs1555133408
|
|
|
NM_005609.4(PYGM):c.2312+15C>T
|
|
|
|
NM_005609.4(PYGM):c.2312+16del
|
|
|
|
NM_005609.4(PYGM):c.2312+17G>A
|
|
|
|
NM_005609.4(PYGM):c.2312+19G>A
|
|
|
|
NM_005609.4(PYGM):c.2312+19del
|
|
|
|
NM_005609.4(PYGM):c.2312+3G>C
|
rs1555133430
|
|
|
NM_005609.4(PYGM):c.2312+8G>C
|
|
|
|
NM_005609.4(PYGM):c.2312+9G>C
|
|
|
|
NM_005609.4(PYGM):c.2313-13C>T
|
|
|
|
NM_005609.4(PYGM):c.2313-16A>C
|
|
|
|
NM_005609.4(PYGM):c.2313-1G>A
|
|
|
|
NM_005609.4(PYGM):c.2313-7C>T
|
rs768815722
|
|
|
NM_005609.4(PYGM):c.2313-8C>T
|
rs865978483
|
|
|
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
|
rs2058315823
|
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
|
NM_005609.4(PYGM):c.2322C>A (p.Val774=)
|
|
|
|
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
|
|
|
|
NM_005609.4(PYGM):c.2331T>C (p.Asp777=)
|
rs2135823373
|
|
|
NM_005609.4(PYGM):c.2334T>C (p.Tyr778=)
|
rs2135823364
|
|
|
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys)
|
rs2135823341
|
|
|
NM_005609.4(PYGM):c.2343C>T (p.Tyr781=)
|
|
|
|
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
|
|
|
|
NM_005609.4(PYGM):c.2355G>A (p.Gln785=)
|
rs1592405031
|
|
|
NM_005609.4(PYGM):c.2358G>A (p.Glu786=)
|
rs1467645013
|
|
|
NM_005609.4(PYGM):c.2361A>G (p.Lys787=)
|
rs2135823301
|
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
|
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
|
rs750356895
|
|
|
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
|
|
|
|
NM_005609.4(PYGM):c.2370C>T (p.Ala790=)
|
|
|
|
NM_005609.4(PYGM):c.2370del (p.Leu791fs)
|
|
|
|
NM_005609.4(PYGM):c.2371T>C (p.Leu791=)
|
|
|
|
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
|
rs2058315104
|
|
|
NM_005609.4(PYGM):c.2376C>T (p.Tyr792=)
|
|
|
|
NM_005609.4(PYGM):c.2379+10C>A
|
rs2135823178
|
|
|
NM_005609.4(PYGM):c.2379+11C>A
|
|
|
|
NM_005609.4(PYGM):c.2379+11C>T
|
|
|
|
NM_005609.4(PYGM):c.2379+1G>A
|
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
|
NM_005609.4(PYGM):c.2380-11T>G
|
|
|
|
NM_005609.4(PYGM):c.2380-14C>T
|
|
|
|
NM_005609.4(PYGM):c.2380-15C>G
|
|
|
|
NM_005609.4(PYGM):c.2380-16T>C
|
|
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
|
NM_005609.4(PYGM):c.2380-2A>G
|
|
|
|
NM_005609.4(PYGM):c.2380-6C>T
|
rs2135822859
|
|
|
NM_005609.4(PYGM):c.2380-7C>T
|
|
|
|
NM_005609.4(PYGM):c.2380-8A>G
|
|
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
|
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
|
|
|
|
NM_005609.4(PYGM):c.2385A>C (p.Pro795=)
|
rs2135822804
|
|
|
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg)
|
rs119103258
|
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
|
NM_005609.4(PYGM):c.2394del (p.Glu797_Trp798insTer)
|
|
|
|
NM_005609.4(PYGM):c.2398C>A (p.Arg800=)
|
|
|
|
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
|
|
|
|
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
|
|
|
|
NM_005609.4(PYGM):c.2412G>C (p.Arg804=)
|
rs199927544
|
|
|
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
|
|
|
|
NM_005609.4(PYGM):c.2421C>G (p.Ala807=)
|
|
|
|
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
|
|
|
|
NM_005609.4(PYGM):c.243+13A>C
|
|
|
|
NM_005609.4(PYGM):c.243+14G>A
|
|
|
|
NM_005609.4(PYGM):c.243+14G>T
|
|
|
|
NM_005609.4(PYGM):c.243+16C>T
|
|
|
|
NM_005609.4(PYGM):c.243+18G>C
|
|
|
|
NM_005609.4(PYGM):c.243+8T>C
|
|
|
|
NM_005609.4(PYGM):c.2433G>A (p.Lys811=)
|
|
|
|
NM_005609.4(PYGM):c.244-14G>A
|
|
|
|
NM_005609.4(PYGM):c.244-15C>T
|
|
|
|
NM_005609.4(PYGM):c.244-18A>G
|
|
|
|
NM_005609.4(PYGM):c.244-1G>A
|
rs2135840980
|
|
|
NM_005609.4(PYGM):c.244-20C>G
|
|
|
|
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG
|
rs60191633
|
|
|
NM_005609.4(PYGM):c.244-4G>A
|
rs2135840983
|
|
|
NM_005609.4(PYGM):c.244-5G>C
|
|
|
|
NM_005609.4(PYGM):c.244-9T>C
|
|
|
|
NM_005609.4(PYGM):c.2445C>T (p.Asp815=)
|
|
|
|
NM_005609.4(PYGM):c.2448C>A (p.Arg816=)
|
rs1225428523
|
|
|
NM_005609.4(PYGM):c.2448dup (p.Thr817fs)
|
rs2135822512
|
|
|
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn)
|
rs886048460
|
|
|
NM_005609.4(PYGM):c.2457C>G (p.Ala819=)
|
rs1592404476
|
|
|
NM_005609.4(PYGM):c.2457C>T (p.Ala819=)
|
|
|
|
NM_005609.4(PYGM):c.2460G>A (p.Gln820=)
|
|
|
|
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
|
|
|
|
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
|
|
|
|
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
|
|
|
|
NM_005609.4(PYGM):c.2469G>A (p.Arg823=)
|
|
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
|
NM_005609.4(PYGM):c.2487G>A (p.Glu829=)
|
rs1199818497
|
|
|
NM_005609.4(PYGM):c.2490T>C (p.Pro830=)
|
|
|
|
NM_005609.4(PYGM):c.2493C>T (p.Ser831=)
|
rs1255956938
|
|
|
NM_005609.4(PYGM):c.2496C>T (p.Arg832=)
|
|
|
|
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
|
|
|
|
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
|
|
|
|
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
|
|
|
|
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
|
|
|
|
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
|
rs2058310112
|
|
|
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
|
|
|
|
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
|
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
|
|
|
|
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)
|
rs1400353740
|
|
|
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu)
|
rs1057516529
|
|
|
NM_005609.4(PYGM):c.253T>C (p.Tyr85His)
|
|
|
|
NM_005609.4(PYGM):c.253del (p.Tyr85fs)
|
rs1057516629
|
|
|
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs)
|
rs2135840945
|
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
|
NM_005609.4(PYGM):c.260_261del (p.Ser87fs)
|
rs757762109
|
|
|
NM_005609.4(PYGM):c.262_263del (p.Leu88fs)
|
rs1555136540
|
|
|
NM_005609.4(PYGM):c.27G>A (p.Glu9=)
|
rs2135842913
|
|
|
NM_005609.4(PYGM):c.286C>T (p.Leu96=)
|
rs2135840874
|
|
|
NM_005609.4(PYGM):c.297C>T (p.Thr99=)
|
|
|
|
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
|
rs2058423391
|
|
|
NM_005609.4(PYGM):c.306C>T (p.Asn102=)
|
rs2135840838
|
|
|
NM_005609.4(PYGM):c.307C>G (p.Leu103Val)
|
rs2135840833
|
|
|
NM_005609.4(PYGM):c.321T>C (p.Asn107=)
|
|
|
|
NM_005609.4(PYGM):c.324C>T (p.Ala108=)
|
rs2135840802
|
|
|
NM_005609.4(PYGM):c.333G>A (p.Glu111=)
|
|
|
|
NM_005609.4(PYGM):c.345+11G>A
|
rs760751053
|
|
|
NM_005609.4(PYGM):c.345+12G>A
|
|
|
|
NM_005609.4(PYGM):c.345+12G>T
|
|
|
|
NM_005609.4(PYGM):c.345+14G>A
|
|
|
|
NM_005609.4(PYGM):c.345+17G>C
|
|
|
|
NM_005609.4(PYGM):c.345+17_345+18delinsAA
|
|
|
|
NM_005609.4(PYGM):c.345+18C>T
|
|
|
|
NM_005609.4(PYGM):c.345+20A>T
|
|
|
|
NM_005609.4(PYGM):c.345+2TG[3]
|
|
|
|
NM_005609.4(PYGM):c.345+7G>A
|
rs1730757719
|
|
|
NM_005609.4(PYGM):c.345+9G>A
|
rs1370814699
|
|
|
NM_005609.4(PYGM):c.345G>C (p.Gln115His)
|
rs2135840732
|
|
|
NM_005609.4(PYGM):c.346-11C>T
|
|
|
|
NM_005609.4(PYGM):c.346-12T>C
|
|
|
|
NM_005609.4(PYGM):c.346-13C>T
|
|
|
|
NM_005609.4(PYGM):c.346-16A>G
|
|
|
|
NM_005609.4(PYGM):c.346-19G>A
|
|
|
|
NM_005609.4(PYGM):c.346-4C>T
|
rs2135840541
|
|
|
NM_005609.4(PYGM):c.346-5T>C
|
rs1016613332
|
|
|
NM_005609.4(PYGM):c.346-5T>G
|
|
|
|
NM_005609.4(PYGM):c.348G>A (p.Leu116=)
|
rs1341899522
|
|
|
NM_005609.4(PYGM):c.354G>C (p.Leu118=)
|
|
|
|
NM_005609.4(PYGM):c.357C>T (p.Asp119=)
|
|
|
|
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
|
|
|
|
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
|
|
|
|
NM_005609.4(PYGM):c.369G>A (p.Leu123=)
|
|
|
|
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
|
NM_005609.4(PYGM):c.373del (p.Glu125fs)
|
rs2135840482
|
|
|
NM_005609.4(PYGM):c.384G>A (p.Glu128=)
|
rs1437348857
|
|
|
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
|
rs2058409644
|
|
|
NM_005609.4(PYGM):c.393del (p.Leu132fs)
|
|
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
|
NM_005609.4(PYGM):c.396G>C (p.Leu132=)
|
|
|
|
NM_005609.4(PYGM):c.398del (p.Gly133fs)
|
|
|
|
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)
|
|
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
|
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
|
|
|
|
NM_005609.4(PYGM):c.405G>A (p.Gly135=)
|
|
|
|
NM_005609.4(PYGM):c.405G>T (p.Gly135=)
|
|
|
|
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
|
|
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
|
NM_005609.4(PYGM):c.409C>T (p.Leu137=)
|
|
|
|
NM_005609.4(PYGM):c.414C>A (p.Gly138=)
|
rs757263362
|
|
|
NM_005609.4(PYGM):c.414C>T (p.Gly138=)
|
|
|
|
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
|
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
|
NM_005609.4(PYGM):c.417G>T (p.Arg139=)
|
rs1247168884
|
|
|
NM_005609.4(PYGM):c.418C>T (p.Leu140=)
|
rs2135840331
|
|
|
NM_005609.4(PYGM):c.420G>A (p.Leu140=)
|
|
|
|
NM_005609.4(PYGM):c.424+12G>C
|
|
|
|
NM_005609.4(PYGM):c.424+1G>A
|
|
|
|
NM_005609.4(PYGM):c.424+1G>T
|
|
|
|
NM_005609.4(PYGM):c.424+4A>G
|
|
|
|
NM_005609.4(PYGM):c.424+7A>C
|
rs759436324
|
|
|
NM_005609.4(PYGM):c.424+8G>A
|
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|
|
NM_005609.4(PYGM):c.424+8G>C
|
rs2135840303
|
|
|
NM_005609.4(PYGM):c.424+9_424+12del
|
rs1393111280
|
|
|
NM_005609.4(PYGM):c.425-10A>G
|
rs2135840188
|
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|
NM_005609.4(PYGM):c.425-18C>A
|
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|
NM_005609.4(PYGM):c.425-18C>T
|
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|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
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|
NM_005609.4(PYGM):c.425-4C>T
|
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|
NM_005609.4(PYGM):c.425-5C>A
|
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|
NM_005609.4(PYGM):c.425-5C>T
|
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|
NM_005609.4(PYGM):c.425-6C>T
|
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|
NM_005609.4(PYGM):c.438C>T (p.Asp146=)
|
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|
|
NM_005609.4(PYGM):c.445_448del (p.Ala149fs)
|
rs1057517400
|
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|
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
|
|
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|
NM_005609.4(PYGM):c.456C>G (p.Gly152=)
|
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|
|
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg)
|
rs2135840127
|
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|
NM_005609.4(PYGM):c.459G>C (p.Leu153=)
|
rs775811645
|
|
|
NM_005609.4(PYGM):c.45T>C (p.Ser15=)
|
rs2135842875
|
|
|
NM_005609.4(PYGM):c.45_67del (p.Ser15fs)
|
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|
NM_005609.4(PYGM):c.462C>T (p.Ala154=)
|
rs1410374422
|
|
|
NM_005609.4(PYGM):c.462dup (p.Ala155fs)
|
|
|
|
NM_005609.4(PYGM):c.465C>T (p.Ala155=)
|
rs2058407860
|
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|
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
|
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|
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
|
rs2058407754
|
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|
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
|
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|
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
|
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|
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg)
|
rs760654579
|
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|
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
|
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|
|
NM_005609.4(PYGM):c.493_514del (p.Gly165fs)
|
rs2135839973
|
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|
NM_005609.4(PYGM):c.495G>C (p.Gly165=)
|
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|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
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|
NM_005609.4(PYGM):c.504C>T (p.Asn168=)
|
rs2135840016
|
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|
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter)
|
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|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
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|
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
|
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|
NM_005609.4(PYGM):c.510G>A (p.Lys170=)
|
rs1214431808
|
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|
NM_005609.4(PYGM):c.513C>T (p.Ile171=)
|
rs2135839977
|
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|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
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|
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)
|
rs1555136375
|
|
|
NM_005609.4(PYGM):c.521del (p.Gly174fs)
|
rs2058407169
|
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|
NM_005609.4(PYGM):c.521dup (p.Trp175fs)
|
rs2058407169
|
|
|
NM_005609.4(PYGM):c.522C>T (p.Gly174=)
|
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|
NM_005609.4(PYGM):c.528+13G>A
|
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|
NM_005609.4(PYGM):c.528+1G>A
|
rs1262967083
|
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|
NM_005609.4(PYGM):c.528+1G>T
|
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|
NM_005609.4(PYGM):c.528+2T>G
|
rs1057516468
|
|
|
NM_005609.4(PYGM):c.528+4AGC[3]
|
rs2135839913
|
|
|
NM_005609.4(PYGM):c.528+9C>A
|
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|
NM_005609.4(PYGM):c.529-12C>T
|
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|
NM_005609.4(PYGM):c.529-13_529-10del
|
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|
NM_005609.4(PYGM):c.529-15C>G
|
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|
NM_005609.4(PYGM):c.529-18G>C
|
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|
NM_005609.4(PYGM):c.535G>C (p.Glu179Gln)
|
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|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
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|
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
|
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|
|
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)
|
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|
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer)
|
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|
NM_005609.4(PYGM):c.55C>T (p.Leu19=)
|
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|
|
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
|
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|
|
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys)
|
rs604595
|
|
|
NM_005609.4(PYGM):c.564C>T (p.Asn188=)
|
rs604595
|
|
|
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter)
|
rs2135839308
|
|
|
NM_005609.4(PYGM):c.579C>T (p.Ala193=)
|
|
|
|
NM_005609.4(PYGM):c.580del (p.Arg194fs)
|
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|
|
NM_005609.4(PYGM):c.582G>T (p.Arg194=)
|
rs2135839278
|
|
|
NM_005609.4(PYGM):c.586G>A (p.Glu196Lys)
|
|
|
|
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
|
|
|
|
NM_005609.4(PYGM):c.600T>A (p.Pro200=)
|
rs2135839246
|
|
|
NM_005609.4(PYGM):c.609C>T (p.Phe203=)
|
|
|
|
NM_005609.4(PYGM):c.60C>A (p.Ala20=)
|
|
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
|
NM_005609.4(PYGM):c.615C>T (p.Gly205=)
|
|
|
|
NM_005609.4(PYGM):c.624G>A (p.Glu208=)
|
|
|
|
NM_005609.4(PYGM):c.627C>T (p.His209=)
|
rs2135839184
|
|
|
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
|
|
|
|
NM_005609.4(PYGM):c.630C>T (p.Thr210=)
|
rs115141783
|
|
|
NM_005609.4(PYGM):c.632del (p.Ser211fs)
|
rs759015176
|
|
|
NM_005609.4(PYGM):c.633C>T (p.Ser211=)
|
rs757861426
|
|
|
NM_005609.4(PYGM):c.642C>T (p.Ala214=)
|
|
|
|
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)
|
|
|
|
NM_005609.4(PYGM):c.651G>T (p.Val217=)
|
|
|
|
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
|
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
|
NM_005609.4(PYGM):c.658del (p.Gln220fs)
|
|
|
|
NM_005609.4(PYGM):c.660+13_660+15del
|
rs760532304
|
|
|
NM_005609.4(PYGM):c.660+17G>A
|
|
|
|
NM_005609.4(PYGM):c.660+18G>C
|
|
|
|
NM_005609.4(PYGM):c.660+18G>T
|
|
|
|
NM_005609.4(PYGM):c.660+1G>A
|
rs1555136208
|
|
|
NM_005609.4(PYGM):c.660+9G>A
|
rs2135839093
|
|
|
NM_005609.4(PYGM):c.661-10C>G
|
rs759810824
|
|
|
NM_005609.4(PYGM):c.661-4G>C
|
|
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
|
NM_005609.4(PYGM):c.661-5C>T
|
rs75633423
|
|
|
NM_005609.4(PYGM):c.661-5del
|
rs768761419
|
|
|
NM_005609.4(PYGM):c.661-7C>A
|
rs2135836733
|
|
|
NM_005609.4(PYGM):c.661-9C>T
|
rs776779910
|
|
|
NM_005609.4(PYGM):c.667C>G (p.Leu223Val)
|
rs772025653
|
|
|
NM_005609.4(PYGM):c.667C>T (p.Leu223=)
|
|
|
|
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
|
|
|
|
NM_005609.4(PYGM):c.678C>T (p.Pro226=)
|
|
|
|
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)
|
rs1555136828
|
|
|
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)
|
rs377503100
|
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
|
NM_005609.4(PYGM):c.687G>C (p.Thr229=)
|
rs764624576
|
|
|
NM_005609.4(PYGM):c.687G>T (p.Thr229=)
|
|
|
|
NM_005609.4(PYGM):c.690C>T (p.Pro230=)
|
rs946190237
|
|
|
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
|
|
|
|
NM_005609.4(PYGM):c.693G>A (p.Val231=)
|
|
|
|
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
|
|
|
|
NM_005609.4(PYGM):c.699C>T (p.Gly233=)
|
rs2135836588
|
|
|
NM_005609.4(PYGM):c.699del (p.Tyr234fs)
|
|
|
|
NM_005609.4(PYGM):c.708C>T (p.Asn236=)
|
rs2135836560
|
|
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
|
|
|
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
|
rs1312195500
|
|
|
NM_005609.4(PYGM):c.729C>A (p.Arg243=)
|
rs151160016
|
|
|
NM_005609.4(PYGM):c.730del (p.Leu244fs)
|
rs2135836491
|
|
|
NM_005609.4(PYGM):c.732C>G (p.Leu244=)
|
rs542897023
|
|
|
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter)
|
rs2135836483
|
|
|
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
|
|
|
|
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)
|
rs1555135785
|
|
|
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
|
|
|
|
NM_005609.4(PYGM):c.741C>T (p.Ala247=)
|
rs1259011777
|
|
|
NM_005609.4(PYGM):c.744G>A (p.Lys248=)
|
rs1325452379
|
|
|
NM_005609.4(PYGM):c.750C>G (p.Pro250=)
|
|
|
|
NM_005609.4(PYGM):c.75G>A (p.Val25=)
|
|
|
|
NM_005609.4(PYGM):c.768G>A (p.Lys256=)
|
|
|
|
NM_005609.4(PYGM):c.772+10T>C
|
|
|
|
NM_005609.4(PYGM):c.772+14C>T
|
|
|
|
NM_005609.4(PYGM):c.772+16G>A
|
|
|
|
NM_005609.4(PYGM):c.772+18T>G
|
rs2135836360
|
|
|
NM_005609.4(PYGM):c.772+1G>T
|
|
|
|
NM_005609.4(PYGM):c.772+2T>A
|
|
|
|
NM_005609.4(PYGM):c.772+2_772+3del
|
|
|
|
NM_005609.4(PYGM):c.772+8C>G
|
|
|
|
NM_005609.4(PYGM):c.773-1G>C
|
rs2135836264
|
|
|
NM_005609.4(PYGM):c.773-5C>G
|
|
|
|
NM_005609.4(PYGM):c.773-5C>T
|
rs748541324
|
|
|
NM_005609.4(PYGM):c.773-6C>G
|
|
|
|
NM_005609.4(PYGM):c.773-9G>A
|
|
|
|
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
|
|
|
|
NM_005609.4(PYGM):c.777T>C (p.Asn259=)
|
rs1357492907
|
|
|
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
|
|
|
|
NM_005609.4(PYGM):c.783T>G (p.Gly261=)
|
|
|
|
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
|
|
|
|
NM_005609.4(PYGM):c.801G>A (p.Val267=)
|
|
|
|
NM_005609.4(PYGM):c.802T>C (p.Leu268=)
|
rs750576348
|
|
|
NM_005609.4(PYGM):c.803del (p.Leu268fs)
|
|
|
|
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
|
|
|
|
NM_005609.4(PYGM):c.814C>T (p.Leu272=)
|
|
|
|
NM_005609.4(PYGM):c.816G>A (p.Leu272=)
|
rs2135836180
|
|
|
NM_005609.4(PYGM):c.819G>A (p.Ala273=)
|
rs763918119
|
|
|
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
|
|
|
|
NM_005609.4(PYGM):c.828C>T (p.Ile276=)
|
rs1198004865
|
|
|
NM_005609.4(PYGM):c.82C>T (p.Leu28=)
|
|
|
|
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro)
|
rs775556109
|
|
|
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
|
|
|
|
NM_005609.4(PYGM):c.840G>C (p.Leu280=)
|
rs2135836148
|
|
|
NM_005609.4(PYGM):c.849T>C (p.Asn283=)
|
rs1592413061
|
|
|
NM_005609.4(PYGM):c.852T>C (p.Asp284=)
|
|
|
|
NM_005609.4(PYGM):c.855+10C>A
|
rs780270624
|
|
|
NM_005609.4(PYGM):c.855+13del
|
|
|
|
NM_005609.4(PYGM):c.855+14T>G
|
|
|
|
NM_005609.4(PYGM):c.855+15G>A
|
|
|
|
NM_005609.4(PYGM):c.855+19T>G
|
|
|
|
NM_005609.4(PYGM):c.855+1G>A
|
rs2135836123
|
|
|
NM_005609.4(PYGM):c.855+20G>A
|
|
|
|
NM_005609.4(PYGM):c.855+3G>T
|
|
|
|
NM_005609.4(PYGM):c.855+7C>A
|
rs2135836112
|
|
|
NM_005609.4(PYGM):c.855+7C>T
|
rs2135836112
|
|
|
NM_005609.4(PYGM):c.855+8A>G
|
rs2135836107
|
|
|
NM_005609.4(PYGM):c.855+9C>A
|
|
|
|
NM_005609.4(PYGM):c.855+9C>T
|
|
|
|
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
|
|
|
|
NM_005609.4(PYGM):c.856-12T>C
|
rs2135835596
|
|
|
NM_005609.4(PYGM):c.856-17C>A
|
|
|
|
NM_005609.4(PYGM):c.856-2A>C
|
rs1565536363
|
|
|
NM_005609.4(PYGM):c.856-6C>A
|
|
|
|
NM_005609.4(PYGM):c.856-8G>C
|
rs759072956
|
|
|
NM_005609.4(PYGM):c.856-9T>C
|
|
|
|
NM_005609.4(PYGM):c.864A>G (p.Glu288=)
|
rs2135835559
|
|
|
NM_005609.4(PYGM):c.873G>A (p.Glu291=)
|
|
|
|
NM_005609.4(PYGM):c.880C>T (p.Leu294=)
|
|
|
|
NM_005609.4(PYGM):c.882G>A (p.Leu294=)
|
|
|
|
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
|
|
|
|
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
|
|
|
|
NM_005609.4(PYGM):c.898G>A (p.Val300Met)
|
rs757387408
|
|
|
NM_005609.4(PYGM):c.898G>C (p.Val300Leu)
|
rs757387408
|
|
|
NM_005609.4(PYGM):c.922del (p.Ile308fs)
|
|
|
|
NM_005609.4(PYGM):c.932G>A (p.Arg311His)
|
|
|
|
NM_005609.4(PYGM):c.936C>T (p.Phe312=)
|
|
|
|
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
|
|
|
|
NM_005609.4(PYGM):c.945C>G (p.Ser315=)
|
rs2135835417
|
|
|
NM_005609.4(PYGM):c.945C>T (p.Ser315=)
|
|
|
|
NM_005609.4(PYGM):c.966C>T (p.Pro322=)
|
rs377041639
|
|
|
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
|
rs770104418
|
|
|
NM_005609.4(PYGM):c.96C>T (p.Phe32=)
|
|
|
|
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
|
|
|
|
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
|
|
|
|
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
|
|
|
|
NM_005609.4(PYGM):c.978C>T (p.Asn326=)
|
|
|
|
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
|
rs758682386
|
|
|
NM_005609.4(PYGM):c.987C>G (p.Ala329=)
|
rs1565536189
|
|
|
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
|
|
|
|
NM_005609.4(PYGM):c.990C>T (p.Phe330=)
|
rs2135835271
|
|
|
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
|
|
|
|
NM_005609.4(PYGM):c.993A>C (p.Pro331=)
|
rs748361251
|
|
|
NM_005609.4(PYGM):c.993A>G (p.Pro331=)
|
|
|
|
NM_005609.4(PYGM):c.999+10G>T
|
|
|
|
NM_005609.4(PYGM):c.999+16A>T
|
|
|
|
NM_005609.4(PYGM):c.999+18G>T
|
|
|
|
NM_005609.4(PYGM):c.999+1G>A
|
|
|
|
NM_005609.4(PYGM):c.999+7T>C
|
rs1565536175
|
|
|
NM_005609.4(PYGM):c.999+8G>A
|
|
|
|
NM_005609.4(PYGM):c.999+9C>A
|
rs183026465
|
|
|
NM_005609.4(PYGM):c.999+9C>G
|
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
|
NM_005645.4(TAF13):c.-2G>A
|
|
|
|
NM_005645.4(TAF13):c.119T>A (p.Met40Lys)
|
rs1060505029
|
|
|
NM_005645.4(TAF13):c.204+1G>T
|
rs2102105455
|
|
|
NM_005645.4(TAF13):c.92T>A (p.Leu31His)
|
rs1060505030
|
|
|
NM_005670.4(EPM2A):c.108_139del (p.Ala37fs)
|
rs1204045237
|
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
|
NM_005670.4(EPM2A):c.166G>T (p.Glu56Ter)
|
rs796052424
|
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
|
NM_005670.4(EPM2A):c.322del (p.Arg108fs)
|
rs2128614455
|
|
|
NM_005670.4(EPM2A):c.335dup (p.Tyr112Ter)
|
rs587776553
|
|
|
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
|
|
|
|
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)
|
rs1776588836
|
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
|
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
|
|
|
|
NM_005670.4(EPM2A):c.835G>A (p.Gly279Ser)
|
rs137852917
|
|
|
NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly)
|
rs104893955
|
|
|
NM_005670.4(EPM2A):c.953dup (p.Gln319fs)
|
rs587776554
|
|
|
NM_005883.3(APC2):c.2595C>A (p.His865Gln)
|
rs2145233148
|
|
|
NM_005883.3(APC2):c.278C>T (p.Pro93Leu)
|
|
|
|
NM_005883.3(APC2):c.4384A>C (p.Arg1462=)
|
rs265273
|
|
|
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro)
|
rs367655515
|
|
|
NM_005883.3(APC2):c.5199dup (p.Lys1734fs)
|
rs886040957
|
|
|
NM_005883.3(APC2):c.5772G>C (p.Gln1924His)
|
rs2084082995
|
|
|
NM_005883.3(APC2):c.583C>T (p.Arg195Cys)
|
rs1158412843
|
|
|
NM_005883.3(APC2):c.6111C>T (p.Phe2037=)
|
rs1405418055
|
|
|
NM_005883.3(APC2):c.6620C>T (p.Pro2207Leu)
|
rs1338563418
|
|
|
NM_005883.3(APC2):c.757C>T (p.Pro253Ser)
|
rs555858661
|
|
|
NM_005883.3(APC2):c.796C>A (p.Pro266Thr)
|
rs146579468
|
|
|
NM_005908.4(MANBA):c.*314A>G
|
rs886058966
|
|
|
NM_005908.4(MANBA):c.*328T>A
|
rs1729383430
|
|
|
NM_005908.4(MANBA):c.*503G>C
|
rs1022995879
|
|
|
NM_005908.4(MANBA):c.-13_112del (p.Met1fs)
|
|
|
|
NM_005908.4(MANBA):c.-58G>A
|
rs548442432
|
|
|
NM_005908.4(MANBA):c.1002A>G (p.Lys334=)
|
|
|
|
NM_005908.4(MANBA):c.102G>A (p.Gly34=)
|
|
|
|
NM_005908.4(MANBA):c.102G>C (p.Gly34=)
|
|
|
|
NM_005908.4(MANBA):c.1047C>T (p.Pro349=)
|
|
|
|
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
|
|
|
|
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr)
|
rs2110226355
|
|
|
NM_005908.4(MANBA):c.1086A>G (p.Ser362=)
|
|
|
|
NM_005908.4(MANBA):c.1096C>T (p.Arg366Ter)
|
|
|
|
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
|
|
|
|
NM_005908.4(MANBA):c.1098A>G (p.Arg366=)
|
|
|
|
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
|
|
|
|
NM_005908.4(MANBA):c.1101_1111del (p.Thr368fs)
|
|
|
|
NM_005908.4(MANBA):c.1107T>G (p.Ser369=)
|
|
|
|
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
|
|
|
|
NM_005908.4(MANBA):c.1112+10T>C
|
|
|
|
NM_005908.4(MANBA):c.1112+13C>T
|
|
|
|
NM_005908.4(MANBA):c.1112+17C>A
|
|
|
|
NM_005908.4(MANBA):c.1112+1G>T
|
|
|
|
NM_005908.4(MANBA):c.1113-17T>C
|
|
|
|
NM_005908.4(MANBA):c.1113-6C>T
|
|
|
|
NM_005908.4(MANBA):c.1116A>G (p.Leu372=)
|
|
|
|
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
|
|
|
|
NM_005908.4(MANBA):c.1119G>T (p.Arg373=)
|
|
|
|
NM_005908.4(MANBA):c.1128A>G (p.Leu376=)
|
|
|
|
NM_005908.4(MANBA):c.1134T>A (p.Ser378=)
|
|
|
|
NM_005908.4(MANBA):c.1140G>A (p.Val380=)
|
|
|
|
NM_005908.4(MANBA):c.1143T>C (p.Asp381=)
|
|
|
|
NM_005908.4(MANBA):c.1149T>C (p.Asn383=)
|
|
|
|
NM_005908.4(MANBA):c.1153_1162del (p.Asn385fs)
|
|
|
|
NM_005908.4(MANBA):c.1156_1157del (p.Thr386fs)
|
|
|
|
NM_005908.4(MANBA):c.1162C>T (p.Arg388Trp)
|
|
|
|
NM_005908.4(MANBA):c.1164G>A (p.Arg388=)
|
|
|
|
NM_005908.4(MANBA):c.1164G>C (p.Arg388=)
|
|
|
|
NM_005908.4(MANBA):c.1169G>A (p.Trp390Ter)
|
|
|
|
NM_005908.4(MANBA):c.1173A>G (p.Gly391=)
|
|
|
|
NM_005908.4(MANBA):c.1176A>C (p.Gly392=)
|
|
|
|
NM_005908.4(MANBA):c.1188G>A (p.Glu396=)
|
|
|
|
NM_005908.4(MANBA):c.120G>A (p.Leu40=)
|
|
|
|
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val)
|
|
|
|
NM_005908.4(MANBA):c.1230+12A>G
|
|
|
|
NM_005908.4(MANBA):c.1230+13T>C
|
|
|
|
NM_005908.4(MANBA):c.1230+14A>G
|
|
|
|
NM_005908.4(MANBA):c.1230+15G>A
|
|
|
|
NM_005908.4(MANBA):c.1230+17A>G
|
|
|
|
NM_005908.4(MANBA):c.1230+9T>A
|
|
|
|
NM_005908.4(MANBA):c.1231-14A>G
|
|
|
|
NM_005908.4(MANBA):c.1231-16T>G
|
|
|
|
NM_005908.4(MANBA):c.1231-16_1231-15del
|
|
|
|
NM_005908.4(MANBA):c.1231-1G>A
|
|
|
|
NM_005908.4(MANBA):c.1231-20C>G
|
|
|
|
NM_005908.4(MANBA):c.1231-6T>G
|
|
|
|
NM_005908.4(MANBA):c.1234dup (p.Trp412fs)
|
|
|
|
NM_005908.4(MANBA):c.1235G>A (p.Trp412Ter)
|
|
|
|
NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter)
|
rs1553945794
|
|
|
NM_005908.4(MANBA):c.1239G>A (p.Gln413=)
|
|
|
|
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn)
|
rs2110220981
|
|
|
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg)
|
|
|
|
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg)
|
|
|
|
NM_005908.4(MANBA):c.1257T>C (p.Cys419=)
|
|
|
|
NM_005908.4(MANBA):c.126G>A (p.Gly42=)
|
|
|
|
NM_005908.4(MANBA):c.1276C>T (p.Gln426Ter)
|
rs121434336
|
|
|
NM_005908.4(MANBA):c.1293A>G (p.Ser431=)
|
|
|
|
NM_005908.4(MANBA):c.130G>A (p.Val44Ile)
|
rs1432738569
|
|
|
NM_005908.4(MANBA):c.1311C>T (p.Ala437=)
|
|
|
|
NM_005908.4(MANBA):c.1312del (p.Tyr438fs)
|
|
|
|
NM_005908.4(MANBA):c.1317+12C>A
|
|
|
|
NM_005908.4(MANBA):c.1317+17C>T
|
|
|
|
NM_005908.4(MANBA):c.1318-13T>C
|
|
|
|
NM_005908.4(MANBA):c.1318-13del
|
|
|
|
NM_005908.4(MANBA):c.1318-19_1318-18del
|
|
|
|
NM_005908.4(MANBA):c.1318-9A>C
|
|
|
|
NM_005908.4(MANBA):c.1319T>A (p.Ile440Asn)
|
|
|
|
NM_005908.4(MANBA):c.132C>T (p.Val44=)
|
|
|
|
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys)
|
|
|
|
NM_005908.4(MANBA):c.135T>G (p.Pro45=)
|
|
|
|
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val)
|
|
|
|
NM_005908.4(MANBA):c.1383G>A (p.Ala461=)
|
|
|
|
NM_005908.4(MANBA):c.1384C>T (p.Leu462=)
|
|
|
|
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
|
|
|
|
NM_005908.4(MANBA):c.1395T>C (p.Asn465=)
|
|
|
|
NM_005908.4(MANBA):c.1398G>A (p.Trp466Ter)
|
rs1208178394
|
|
|
NM_005908.4(MANBA):c.13C>T (p.Leu5=)
|
|
|
|
NM_005908.4(MANBA):c.1413C>T (p.Phe471=)
|
|
|
|
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp)
|
rs141230920
|
|
|
NM_005908.4(MANBA):c.1422_1477dup (p.Val493delinsGlyGlnSerThrSerArgThrMetTer)
|
|
|
|
NM_005908.4(MANBA):c.1428C>A (p.Ile476=)
|
|
|
|
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
|
|
|
|
NM_005908.4(MANBA):c.1443T>C (p.Tyr481=)
|
|
|
|
NM_005908.4(MANBA):c.1446G>A (p.Val482=)
|
|
|
|
NM_005908.4(MANBA):c.1452_1453del (p.Tyr485fs)
|
rs764364492
|
|
|
NM_005908.4(MANBA):c.1453dup (p.Tyr485fs)
|
|
|
|
NM_005908.4(MANBA):c.1454_1455del (p.Tyr485fs)
|
rs1188116333
|
|
|
NM_005908.4(MANBA):c.1470del (p.Glu491fs)
|
|
|
|
NM_005908.4(MANBA):c.1473G>A (p.Glu491=)
|
|
|
|
NM_005908.4(MANBA):c.1480C>T (p.Leu494=)
|
|
|
|
NM_005908.4(MANBA):c.1485+16del
|
rs2110216761
|
|
|
NM_005908.4(MANBA):c.1485+18A>G
|
|
|
|
NM_005908.4(MANBA):c.1485+9T>A
|
rs199592616
|
|
|
NM_005908.4(MANBA):c.1485+9T>C
|
rs199592616
|
|
|
NM_005908.4(MANBA):c.1486-13T>C
|
|
|
|
NM_005908.4(MANBA):c.1486-15T>C
|
|
|
|
NM_005908.4(MANBA):c.1513T>C (p.Ser505Pro)
|
rs121434334
|
|
|
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
|
|
|
|
NM_005908.4(MANBA):c.1534G>T (p.Glu512Ter)
|
|
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
|
NM_005908.4(MANBA):c.1545A>G (p.Ala515=)
|
|
|
|
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
|
|
|
|
NM_005908.4(MANBA):c.1551C>G (p.Ala517=)
|
|
|
|
NM_005908.4(MANBA):c.1551C>T (p.Ala517=)
|
|
|
|
NM_005908.4(MANBA):c.1553G>A (p.Trp518Ter)
|
|
|
|
NM_005908.4(MANBA):c.1557C>G (p.Val519=)
|
rs958430573
|
|
|
NM_005908.4(MANBA):c.1557C>T (p.Val519=)
|
|
|
|
NM_005908.4(MANBA):c.1561C>T (p.Gln521Ter)
|
|
|
|
NM_005908.4(MANBA):c.1563A>G (p.Gln521=)
|
|
|
|
NM_005908.4(MANBA):c.1572T>C (p.Asn524=)
|
rs2110210086
|
|
|
NM_005908.4(MANBA):c.1575C>T (p.Ser525=)
|
|
|
|
NM_005908.4(MANBA):c.1581T>A (p.Tyr527Ter)
|
|
|
|
NM_005908.4(MANBA):c.1581T>C (p.Tyr527=)
|
|
|
|
NM_005908.4(MANBA):c.1584T>C (p.Phe528=)
|
|
|
|
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
|
|
|
|
NM_005908.4(MANBA):c.1593A>G (p.Val531=)
|
|
|
|
NM_005908.4(MANBA):c.15G>A (p.Leu5=)
|
|
|
|
NM_005908.4(MANBA):c.15G>C (p.Leu5=)
|
|
|
|
NM_005908.4(MANBA):c.1605C>T (p.Asp535=)
|
|
|
|
NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)
|
|
|
|
NM_005908.4(MANBA):c.162G>A (p.Gln54=)
|
|
|
|
NM_005908.4(MANBA):c.1638C>T (p.Phe546=)
|
|
|
|
NM_005908.4(MANBA):c.1644del (p.Ala549fs)
|
|
|
|
NM_005908.4(MANBA):c.1648C>T (p.Arg550Ter)
|
|
|
|
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln)
|
rs745958233
|
|
|
NM_005908.4(MANBA):c.1649del (p.Arg550fs)
|
|
|
|
NM_005908.4(MANBA):c.1653T>C (p.Phe551=)
|
|
|
|
NM_005908.4(MANBA):c.1668A>G (p.Gly556=)
|
|
|
|
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
|
|
|
|
NM_005908.4(MANBA):c.1683G>A (p.Pro561=)
|
|
|
|
NM_005908.4(MANBA):c.1686C>T (p.Ser562=)
|
|
|
|
NM_005908.4(MANBA):c.1689C>T (p.Phe563=)
|
|
|
|
NM_005908.4(MANBA):c.1695A>G (p.Thr565=)
|
|
|
|
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
|
|
|
|
NM_005908.4(MANBA):c.169C>A (p.Leu57Met)
|
rs1349054936
|
|
|
NM_005908.4(MANBA):c.169C>T (p.Leu57=)
|
|
|
|
NM_005908.4(MANBA):c.1704+10C>T
|
|
|
|
NM_005908.4(MANBA):c.1704+11G>A
|
|
|
|
NM_005908.4(MANBA):c.1704+12T>A
|
|
|
|
NM_005908.4(MANBA):c.1704+1G>T
|
|
|
|
NM_005908.4(MANBA):c.1705-13C>A
|
rs34754408
|
|
|
NM_005908.4(MANBA):c.1705-13C>T
|
rs34754408
|
|
|
NM_005908.4(MANBA):c.1705-14T>C
|
|
|
|
NM_005908.4(MANBA):c.1705-17T>C
|
|
|
|
NM_005908.4(MANBA):c.1705-1G>A
|
rs1730296951
|
|
|
NM_005908.4(MANBA):c.1705-2A>G
|
|
|
|
NM_005908.4(MANBA):c.1710G>A (p.Ser570=)
|
|
|
|
NM_005908.4(MANBA):c.1724G>A (p.Trp575Ter)
|
|
|
|
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
|
|
|
|
NM_005908.4(MANBA):c.1733del (p.Asn578fs)
|
|
|
|
NM_005908.4(MANBA):c.1734T>C (p.Asn578=)
|
|
|
|
NM_005908.4(MANBA):c.1737C>T (p.Ser579=)
|
|
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
|
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln)
|
rs200033515
|
|
|
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
|
rs200033515
|
|
|
NM_005908.4(MANBA):c.1764C>T (p.His588=)
|
|
|
|
NM_005908.4(MANBA):c.177+12G>C
|
|
|
|
NM_005908.4(MANBA):c.177+14C>A
|
|
|
|
NM_005908.4(MANBA):c.177+18C>T
|
|
|
|
NM_005908.4(MANBA):c.177+19C>A
|
|
|
|
NM_005908.4(MANBA):c.177+19C>G
|
|
|
|
NM_005908.4(MANBA):c.177+20C>T
|
|
|
|
NM_005908.4(MANBA):c.177+2T>C
|
rs779221957
|
|
|
NM_005908.4(MANBA):c.177+3A>G
|
rs2110217534
|
|
|
NM_005908.4(MANBA):c.177+4T>A
|
|
|
|
NM_005908.4(MANBA):c.177+7C>A
|
|
|
|
NM_005908.4(MANBA):c.177+7C>G
|
|
|
|
NM_005908.4(MANBA):c.178-12T>C
|
|
|
|
NM_005908.4(MANBA):c.178-15A>G
|
|
|
|
NM_005908.4(MANBA):c.178-2A>G
|
|
|
|
NM_005908.4(MANBA):c.178-3C>T
|
rs556686364
|
|
|
NM_005908.4(MANBA):c.1794G>A (p.Gln598=)
|
|
|
|
NM_005908.4(MANBA):c.1800A>G (p.Gly600=)
|
|
|
|
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
|
rs1730287301
|
|
|
NM_005908.4(MANBA):c.1827A>G (p.Thr609=)
|
|
|
|
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
|
|
|
|
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
|
|
|
|
NM_005908.4(MANBA):c.1836dup (p.Arg613fs)
|
|
|
|
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
|
|
|
|
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
|
|
|
|
NM_005908.4(MANBA):c.1839C>T (p.Arg613=)
|
|
|
|
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
|
|
|
|
NM_005908.4(MANBA):c.1851T>C (p.Asp617=)
|
rs2110203050
|
|
|
NM_005908.4(MANBA):c.1854C>T (p.Thr618=)
|
|
|
|
NM_005908.4(MANBA):c.1869+17C>A
|
|
|
|
NM_005908.4(MANBA):c.1869+20G>A
|
|
|
|
NM_005908.4(MANBA):c.1869+8G>A
|
|
|
|
NM_005908.4(MANBA):c.1870-16T>C
|
|
|
|
NM_005908.4(MANBA):c.1870-5A>T
|
|
|
|
NM_005908.4(MANBA):c.1872G>A (p.Val624=)
|
|
|
|
NM_005908.4(MANBA):c.1878G>A (p.Gln626=)
|
|
|
|
NM_005908.4(MANBA):c.1881C>G (p.Ala627=)
|
|
|
|
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro)
|
|
|
|
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
|
|
|
|
NM_005908.4(MANBA):c.1905A>G (p.Glu635=)
|
|
|
|
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
|
|
|
|
NM_005908.4(MANBA):c.1917T>C (p.Arg639=)
|
|
|
|
NM_005908.4(MANBA):c.1920T>C (p.Ser640=)
|
|
|
|
NM_005908.4(MANBA):c.1926C>T (p.Ser642=)
|
|
|
|
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys)
|
|
|
|
NM_005908.4(MANBA):c.1944A>G (p.Gln648=)
|
|
|
|
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
|
rs1729796963
|
|
|
NM_005908.4(MANBA):c.1947G>A (p.Gly649=)
|
|
|
|
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del)
|
rs1300919851
|
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
|
NM_005908.4(MANBA):c.1959G>A (p.Gly653=)
|
|
|
|
NM_005908.4(MANBA):c.1959G>C (p.Gly653=)
|
|
|
|
NM_005908.4(MANBA):c.1962A>G (p.Ala654=)
|
|
|
|
NM_005908.4(MANBA):c.1992A>G (p.Gln664=)
|
|
|
|
NM_005908.4(MANBA):c.2014+8T>C
|
|
|
|
NM_005908.4(MANBA):c.2015-11del
|
|
|
|
NM_005908.4(MANBA):c.2015-12G>T
|
|
|
|
NM_005908.4(MANBA):c.2015-16T>G
|
|
|
|
NM_005908.4(MANBA):c.2015-1G>A
|
|
|
|
NM_005908.4(MANBA):c.2015-7T>C
|
|
|
|
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
|
rs1729616711
|
|
|
NM_005908.4(MANBA):c.2030G>A (p.Trp677Ter)
|
rs371368353
|
|
|
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
|
|
|
|
NM_005908.4(MANBA):c.2046C>T (p.Tyr682=)
|
|
|
|
NM_005908.4(MANBA):c.2057del (p.Asn686fs)
|
|
|
|
NM_005908.4(MANBA):c.2070A>G (p.Pro690=)
|
|
|
|
NM_005908.4(MANBA):c.2072del (p.Leu691fs)
|
|
|
|
NM_005908.4(MANBA):c.2079A>G (p.Pro693=)
|
|
|
|
NM_005908.4(MANBA):c.2100C>T (p.Asn700=)
|
|
|
|
NM_005908.4(MANBA):c.2101_2102insTGTGACGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGAATGAAAACA (p.Thr701delinsMetTer)
|
|
|
|
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg)
|
rs2866413
|
|
|
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)
|
rs2866413
|
|
|
NM_005908.4(MANBA):c.2102_2103insAT (p.Phe702fs)
|
|
|
|
NM_005908.4(MANBA):c.2103G>A (p.Thr701=)
|
|
|
|
NM_005908.4(MANBA):c.2103G>T (p.Thr701=)
|
|
|
|
NM_005908.4(MANBA):c.210C>T (p.Tyr70=)
|
|
|
|
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu)
|
|
|
|
NM_005908.4(MANBA):c.2145G>A (p.Ser715=)
|
|
|
|
NM_005908.4(MANBA):c.2154C>G (p.Leu718=)
|
|
|
|
NM_005908.4(MANBA):c.2157+12G>A
|
|
|
|
NM_005908.4(MANBA):c.2157+17G>C
|
|
|
|
NM_005908.4(MANBA):c.2157+19T>A
|
|
|
|
NM_005908.4(MANBA):c.2157+8A>G
|
|
|
|
NM_005908.4(MANBA):c.2157+9C>T
|
|
|
|
NM_005908.4(MANBA):c.2158-10T>G
|
|
|
|
NM_005908.4(MANBA):c.2158-14T>G
|
|
|
|
NM_005908.4(MANBA):c.2158-17G>A
|
|
|
|
NM_005908.4(MANBA):c.2158-5C>T
|
|
|
|
NM_005908.4(MANBA):c.2158-6C>G
|
|
|
|
NM_005908.4(MANBA):c.2158-6C>T
|
|
|
|
NM_005908.4(MANBA):c.2158-7T>A
|
|
|
|
NM_005908.4(MANBA):c.2158-9T>A
|
|
|
|
NM_005908.4(MANBA):c.2160G>A (p.Val720=)
|
|
|
|
NM_005908.4(MANBA):c.2161A>T (p.Arg721Ter)
|
|
|
|
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
|
|
|
|
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser)
|
rs2110188789
|
|
|
NM_005908.4(MANBA):c.2175dup (p.Ser726fs)
|
rs771465504
|
|
|
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
|
|
|
|
NM_005908.4(MANBA):c.2178C>T (p.Ser726=)
|
|
|
|
NM_005908.4(MANBA):c.2181C>G (p.Ser727=)
|
|
|
|
NM_005908.4(MANBA):c.2190C>T (p.Pro730=)
|
|
|
|
NM_005908.4(MANBA):c.2193G>A (p.Val731=)
|
|
|
|
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
|
rs143630504
|
|
|
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro)
|
|
|
|
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys)
|
rs763613927
|
|
|
NM_005908.4(MANBA):c.2229A>C (p.Gly743=)
|
|
|
|
NM_005908.4(MANBA):c.2229A>T (p.Gly743=)
|
|
|
|
NM_005908.4(MANBA):c.2232A>C (p.Gly744=)
|
|
|
|
NM_005908.4(MANBA):c.2241C>T (p.Val747=)
|
|
|
|
NM_005908.4(MANBA):c.2244C>A (p.Cys748Ter)
|
|
|
|
NM_005908.4(MANBA):c.2244C>T (p.Cys748=)
|
|
|
|
NM_005908.4(MANBA):c.2247T>C (p.Leu749=)
|
|
|
|
NM_005908.4(MANBA):c.2253G>A (p.Glu751=)
|
|
|
|
NM_005908.4(MANBA):c.225G>A (p.Leu75=)
|
|
|
|
NM_005908.4(MANBA):c.2265T>C (p.Ser755=)
|
|
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
|
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)
|
rs538584064
|
|
|
NM_005908.4(MANBA):c.2296C>A (p.Arg766=)
|
|
|
|
NM_005908.4(MANBA):c.2298G>A (p.Arg766=)
|
|
|
|
NM_005908.4(MANBA):c.2310G>A (p.Val770=)
|
|
|
|
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile)
|
|
|
|
NM_005908.4(MANBA):c.2316C>G (p.Ser772=)
|
|
|
|
NM_005908.4(MANBA):c.2333_2334del (p.Asp778fs)
|
|
|
|
NM_005908.4(MANBA):c.2334C>T (p.Asp778=)
|
|
|
|
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu)
|
rs116340501
|
|
|
NM_005908.4(MANBA):c.2352G>A (p.Pro784=)
|
|
|
|
NM_005908.4(MANBA):c.2352G>T (p.Pro784=)
|
|
|
|
NM_005908.4(MANBA):c.2355C>T (p.Thr785=)
|
|
|
|
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
|
|
|
|
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser)
|
rs2110188500
|
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
|
NM_005908.4(MANBA):c.2363A>T (p.His788Leu)
|
rs2110188478
|
|
|
NM_005908.4(MANBA):c.2388C>T (p.Ala796=)
|
|
|
|
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
|
|
|
|
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln)
|
rs2110188388
|
|
|
NM_005908.4(MANBA):c.2403G>A (p.Lys801=)
|
|
|
|
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
|
|
|
|
NM_005908.4(MANBA):c.2406G>A (p.Ala802=)
|
rs758859697
|
|
|
NM_005908.4(MANBA):c.2415+11G>A
|
|
|
|
NM_005908.4(MANBA):c.2415+11_2415+17dup
|
|
|
|
NM_005908.4(MANBA):c.2415+14A>T
|
|
|
|
NM_005908.4(MANBA):c.2415+15T>C
|
|
|
|
NM_005908.4(MANBA):c.2415+18C>T
|
|
|
|
NM_005908.4(MANBA):c.2415+1G>C
|
rs1284324018
|
|
|
NM_005908.4(MANBA):c.2416-10del
|
rs5860729
|
|
|
NM_005908.4(MANBA):c.2416-11_2416-10del
|
rs5860729
|
|
|
NM_005908.4(MANBA):c.2416-19T>C
|
|
|
|
NM_005908.4(MANBA):c.2416-20dup
|
rs5860729
|
|
|
NM_005908.4(MANBA):c.2416-22_2416-18del
|
rs2110185741
|
|
|
NM_005908.4(MANBA):c.2416-4T>C
|
|
|
|
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn)
|
rs372866446
|
|
|
NM_005908.4(MANBA):c.2433A>G (p.Gln811=)
|
|
|
|
NM_005908.4(MANBA):c.243C>T (p.Ser81=)
|
|
|
|
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
|
|
|
|
NM_005908.4(MANBA):c.2472C>A (p.Val824=)
|
|
|
|
NM_005908.4(MANBA):c.2472C>G (p.Val824=)
|
|
|
|
NM_005908.4(MANBA):c.2472C>T (p.Val824=)
|
|
|
|
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
|
rs182869272
|
|
|
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser)
|
rs182869272
|
|
|
NM_005908.4(MANBA):c.247G>T (p.Glu83Ter)
|
rs121434335
|
|
|
NM_005908.4(MANBA):c.2488T>C (p.Leu830=)
|
|
|
|
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
|
rs1729412034
|
|
|
NM_005908.4(MANBA):c.249A>G (p.Glu83=)
|
|
|
|
NM_005908.4(MANBA):c.2511G>A (p.Gly837=)
|
|
|
|
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys)
|
rs1382838664
|
|
|
NM_005908.4(MANBA):c.2526T>C (p.Asn842=)
|
|
|
|
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu)
|
|
|
|
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro)
|
rs2110185461
|
|
|
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
|
rs749997217
|
|
|
NM_005908.4(MANBA):c.2547G>A (p.Lys849=)
|
|
|
|
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter)
|
rs200999022
|
|
|
NM_005908.4(MANBA):c.2553A>G (p.Arg851=)
|
|
|
|
NM_005908.4(MANBA):c.2556T>A (p.Thr852=)
|
|
|
|
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
|
|
|
|
NM_005908.4(MANBA):c.2577G>A (p.Glu859=)
|
|
|
|
NM_005908.4(MANBA):c.2592T>C (p.Asn864=)
|
rs1578852747
|
|
|
NM_005908.4(MANBA):c.2613T>C (p.His871=)
|
|
|
|
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly)
|
rs752396515
|
|
|
NM_005908.4(MANBA):c.270T>A (p.Ile90=)
|
|
|
|
NM_005908.4(MANBA):c.272+13G>A
|
|
|
|
NM_005908.4(MANBA):c.272+15G>T
|
|
|
|
NM_005908.4(MANBA):c.272+16G>C
|
|
|
|
NM_005908.4(MANBA):c.272+17G>A
|
|
|
|
NM_005908.4(MANBA):c.272+17G>T
|
|
|
|
NM_005908.4(MANBA):c.272+2T>C
|
|
|
|
NM_005908.4(MANBA):c.272+7A>G
|
|
|
|
NM_005908.4(MANBA):c.273-10T>C
|
|
|
|
NM_005908.4(MANBA):c.273-11C>G
|
|
|
|
NM_005908.4(MANBA):c.273-11_273-7del
|
|
|
|
NM_005908.4(MANBA):c.273-1G>A
|
|
|
|
NM_005908.4(MANBA):c.273-3del
|
|
|
|
NM_005908.4(MANBA):c.273-3dup
|
|
|
|
NM_005908.4(MANBA):c.273-7T>A
|
|
|
|
NM_005908.4(MANBA):c.273-9T>C
|
|
|
|
NM_005908.4(MANBA):c.27C>A (p.Leu9=)
|
|
|
|
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
|
|
|
|
NM_005908.4(MANBA):c.285A>G (p.Lys95=)
|
|
|
|
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
|
|
|
|
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
|
|
|
|
NM_005908.4(MANBA):c.309G>A (p.Val103=)
|
|
|
|
NM_005908.4(MANBA):c.30G>A (p.Ala10=)
|
|
|
|
NM_005908.4(MANBA):c.320C>A (p.Ser107Ter)
|
|
|
|
NM_005908.4(MANBA):c.328C>T (p.Leu110=)
|
|
|
|
NM_005908.4(MANBA):c.33G>A (p.Leu11=)
|
|
|
|
NM_005908.4(MANBA):c.357A>G (p.Thr119=)
|
|
|
|
NM_005908.4(MANBA):c.357A>T (p.Thr119=)
|
|
|
|
NM_005908.4(MANBA):c.360C>T (p.Asp120=)
|
|
|
|
NM_005908.4(MANBA):c.372T>C (p.Asn124=)
|
|
|
|
NM_005908.4(MANBA):c.378+14G>A
|
|
|
|
NM_005908.4(MANBA):c.378+15A>C
|
|
|
|
NM_005908.4(MANBA):c.378+15A>G
|
|
|
|
NM_005908.4(MANBA):c.378+16C>T
|
|
|
|
NM_005908.4(MANBA):c.378+17A>G
|
|
|
|
NM_005908.4(MANBA):c.378+19T>C
|
|
|
|
NM_005908.4(MANBA):c.378+2T>C
|
|
|
|
NM_005908.4(MANBA):c.378+9A>G
|
|
|
|
NM_005908.4(MANBA):c.379-14T>C
|
|
|
|
NM_005908.4(MANBA):c.379-16G>T
|
|
|
|
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)
|
|
|
|
NM_005908.4(MANBA):c.386del (p.Asp129fs)
|
|
|
|
NM_005908.4(MANBA):c.396C>T (p.Asn132=)
|
|
|
|
NM_005908.4(MANBA):c.397G>A (p.Val133Met)
|
|
|
|
NM_005908.4(MANBA):c.39T>G (p.Gly13=)
|
|
|
|
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
|
rs779626922
|
|
|
NM_005908.4(MANBA):c.408C>T (p.Asp136=)
|
|
|
|
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
|
|
|
|
NM_005908.4(MANBA):c.426G>A (p.Leu142=)
|
|
|
|
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
|
|
|
|
NM_005908.4(MANBA):c.42A>G (p.Ala14=)
|
|
|
|
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
|
|
|
|
NM_005908.4(MANBA):c.441G>A (p.Ala147=)
|
|
|
|
NM_005908.4(MANBA):c.462G>A (p.Gln154=)
|
|
|
|
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala)
|
rs2110193651
|
|
|
NM_005908.4(MANBA):c.480C>T (p.Arg160=)
|
|
|
|
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
|
rs939522322
|
|
|
NM_005908.4(MANBA):c.483C>T (p.Tyr161=)
|
|
|
|
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
|
|
|
|
NM_005908.4(MANBA):c.487G>T (p.Val163Phe)
|
|
|
|
NM_005908.4(MANBA):c.489T>C (p.Val163=)
|
|
|
|
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
|
rs1722640489
|
|
|
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu)
|
rs941610876
|
|
|
NM_005908.4(MANBA):c.510T>A (p.Leu170=)
|
|
|
|
NM_005908.4(MANBA):c.51C>A (p.Thr17=)
|
|
|
|
NM_005908.4(MANBA):c.51C>T (p.Thr17=)
|
|
|
|
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys)
|
rs2110193570
|
|
|
NM_005908.4(MANBA):c.540T>C (p.Phe180=)
|
|
|
|
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)
|
rs759103361
|
|
|
NM_005908.4(MANBA):c.547A>T (p.Lys183Ter)
|
|
|
|
NM_005908.4(MANBA):c.549+18A>G
|
|
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
|
NM_005908.4(MANBA):c.549+20G>A
|
|
|
|
NM_005908.4(MANBA):c.549+7G>A
|
|
|
|
NM_005908.4(MANBA):c.549+8T>C
|
|
|
|
NM_005908.4(MANBA):c.54C>A (p.Ala18=)
|
|
|
|
NM_005908.4(MANBA):c.54C>T (p.Ala18=)
|
|
|
|
NM_005908.4(MANBA):c.550-6T>C
|
|
|
|
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)
|
|
|
|
NM_005908.4(MANBA):c.564T>C (p.Phe188=)
|
|
|
|
NM_005908.4(MANBA):c.579G>A (p.Gly193=)
|
|
|
|
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg)
|
rs1553951373
|
|
|
NM_005908.4(MANBA):c.597G>A (p.Gln199=)
|
rs1213852355
|
|
|
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala)
|
rs2110273623
|
|
|
NM_005908.4(MANBA):c.63_64del (p.Ser22fs)
|
|
|
|
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys)
|
|
|
|
NM_005908.4(MANBA):c.673+12G>A
|
|
|
|
NM_005908.4(MANBA):c.673+17G>A
|
|
|
|
NM_005908.4(MANBA):c.673+18A>G
|
|
|
|
NM_005908.4(MANBA):c.673+1G>A
|
|
|
|
NM_005908.4(MANBA):c.673+6C>A
|
|
|
|
NM_005908.4(MANBA):c.674-16T>C
|
|
|
|
NM_005908.4(MANBA):c.674-17T>C
|
|
|
|
NM_005908.4(MANBA):c.674-1G>C
|
|
|
|
NM_005908.4(MANBA):c.674-2A>G
|
|
|
|
NM_005908.4(MANBA):c.674-6T>A
|
|
|
|
NM_005908.4(MANBA):c.674-7A>G
|
|
|
|
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu)
|
rs750030697
|
|
|
NM_005908.4(MANBA):c.677del (p.Lys226fs)
|
|
|
|
NM_005908.4(MANBA):c.681T>C (p.Ser227=)
|
|
|
|
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
|
|
|
|
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
|
rs1724216325
|
|
|
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
|
|
|
|
NM_005908.4(MANBA):c.735G>A (p.Lys245=)
|
|
|
|
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
|
rs1732436667
|
|
|
NM_005908.4(MANBA):c.748C>T (p.Gln250Ter)
|
|
|
|
NM_005908.4(MANBA):c.756C>T (p.Ile252=)
|
|
|
|
NM_005908.4(MANBA):c.759A>C (p.Val253=)
|
|
|
|
NM_005908.4(MANBA):c.762C>T (p.Ala254=)
|
|
|
|
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg)
|
|
|
|
NM_005908.4(MANBA):c.771G>A (p.Lys257=)
|
|
|
|
NM_005908.4(MANBA):c.774G>A (p.Leu258=)
|
|
|
|
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
|
rs767103860
|
|
|
NM_005908.4(MANBA):c.780A>T (p.Thr260=)
|
rs1318996389
|
|
|
NM_005908.4(MANBA):c.780dup (p.Gln261fs)
|
|
|
|
NM_005908.4(MANBA):c.781C>T (p.Gln261Ter)
|
|
|
|
NM_005908.4(MANBA):c.784C>T (p.Gln262Ter)
|
|
|
|
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
|
|
|
|
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg)
|
rs957064535
|
|
|
NM_005908.4(MANBA):c.819del (p.Ile274fs)
|
|
|
|
NM_005908.4(MANBA):c.822T>C (p.Ile274=)
|
|
|
|
NM_005908.4(MANBA):c.828G>A (p.Glu276=)
|
|
|
|
NM_005908.4(MANBA):c.843T>C (p.Ile281=)
|
|
|
|
NM_005908.4(MANBA):c.849+13del
|
|
|
|
NM_005908.4(MANBA):c.849+8A>G
|
|
|
|
NM_005908.4(MANBA):c.84C>T (p.Asn28=)
|
|
|
|
NM_005908.4(MANBA):c.850-10T>C
|
|
|
|
NM_005908.4(MANBA):c.850-18T>G
|
|
|
|
NM_005908.4(MANBA):c.850-19T>C
|
|
|
|
NM_005908.4(MANBA):c.850-5A>T
|
|
|
|
NM_005908.4(MANBA):c.870G>A (p.Trp290Ter)
|
|
|
|
NM_005908.4(MANBA):c.873G>A (p.Trp291Ter)
|
|
|
|
NM_005908.4(MANBA):c.885T>C (p.His295=)
|
|
|
|
NM_005908.4(MANBA):c.891C>T (p.Asn297=)
|
|
|
|
NM_005908.4(MANBA):c.897T>G (p.Thr299=)
|
|
|
|
NM_005908.4(MANBA):c.908T>A (p.Met303Lys)
|
rs1171801333
|
|
|
NM_005908.4(MANBA):c.913G>A (p.Val305Ile)
|
rs939795867
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
|
NM_005908.4(MANBA):c.921T>C (p.Phe307=)
|
|
|
|
NM_005908.4(MANBA):c.925C>T (p.Leu309=)
|
|
|
|
NM_005908.4(MANBA):c.930T>C (p.Asp310=)
|
|
|
|
NM_005908.4(MANBA):c.936C>T (p.Gly312=)
|
|
|
|
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr)
|
|
|
|
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
|
|
|
|
NM_005908.4(MANBA):c.954A>G (p.Ser318=)
|
|
|
|
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
|
|
|
|
NM_005908.4(MANBA):c.960+19A>C
|
|
|
|
NM_005908.4(MANBA):c.960+9G>A
|
|
|
|
NM_005908.4(MANBA):c.961-16A>C
|
|
|
|
NM_005908.4(MANBA):c.961-2A>C
|
rs1411236177
|
|
|
NM_005908.4(MANBA):c.961-8C>A
|
rs886058969
|
|
|
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala)
|
|
|
|
NM_005908.4(MANBA):c.987A>G (p.Ile329Met)
|
|
|
|
NM_005908.4(MANBA):c.997A>G (p.Ile333Val)
|
|
|
|
NM_005908.4(MANBA):c.9C>T (p.Leu3=)
|
|
|
|
NM_005915.6(MCM6):c.1366G>A (p.Val456Met)
|
|
|
|
NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)
|
|
|
|
NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)
|
|
|
|
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs)
|
rs1724954436
|
|
|
NM_006279.5(ST3GAL3):c.1068dup (p.Glu357fs)
|
rs1391400488
|
|
|
NM_006279.5(ST3GAL3):c.1108G>T (p.Asp370Tyr)
|
rs1557612719
|
|
|
NM_006279.5(ST3GAL3):c.118+39G>T
|
rs766784665
|
|
|
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn)
|
rs1365012948
|
|
|
NM_006279.5(ST3GAL3):c.38C>A (p.Ala13Asp)
|
rs387906943
|
|
|
NM_006279.5(ST3GAL3):c.891+1del
|
rs1387140766
|
|
|
NM_006488.3(KHK):c.*11C>T
|
rs759689060
|
|
|
NM_006488.3(KHK):c.*159G>A
|
rs886055892
|
|
|
NM_006488.3(KHK):c.*176G>A
|
rs1558454561
|
|
|
NM_006488.3(KHK):c.*198A>C
|
rs886055893
|
|
|
NM_006488.3(KHK):c.*20AC[2]
|
rs370253620
|
|
|
NM_006488.3(KHK):c.*739G>C
|
rs751242318
|
|
|
NM_006488.3(KHK):c.-140G>A
|
rs886055884
|
|
|
NM_006488.3(KHK):c.112C>T (p.Gln38Ter)
|
|
|
|
NM_006488.3(KHK):c.15G>A (p.Gln5=)
|
rs1669712582
|
|
|
NM_006488.3(KHK):c.210-245C>G
|
rs202153228
|
|
|
NM_006488.3(KHK):c.500G>A (p.Arg167Gln)
|
rs201707861
|
|
|
NM_006488.3(KHK):c.557G>A (p.Gly186Glu)
|
rs886055888
|
|
|
NM_006488.3(KHK):c.643G>C (p.Val215Leu)
|
rs886055889
|
|
|
NM_006488.3(KHK):c.653+5G>A
|
rs1670622215
|
|
|
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del)
|
rs745546639
|
|
|
NM_006488.3(KHK):c.826G>A (p.Glu276Lys)
|
rs761486852
|
|
|
NM_006516.2(SLC2A1):c.-388G>T
|
rs544483207
|
|
|
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs)
|
rs587784393
|
|
|
NM_006516.4(SLC2A1):c.*1079T>G
|
rs1426402573
|
|
|
NM_006516.4(SLC2A1):c.*1081T>A
|
rs886046333
|
|
|
NM_006516.4(SLC2A1):c.*1147G>C
|
rs886046332
|
|
|
NM_006516.4(SLC2A1):c.*1337A>G
|
rs113441673
|
|
|
NM_006516.4(SLC2A1):c.*1564C>T
|
rs1057515570
|
|
|
NM_006516.4(SLC2A1):c.*1611T>C
|
rs1057515457
|
|
|
NM_006516.4(SLC2A1):c.*216C>T
|
rs1643431578
|
|
|
NM_006516.4(SLC2A1):c.*462G>C
|
rs4658
|
|
|
NM_006516.4(SLC2A1):c.*92G>A
|
rs1266657991
|
|
|
NM_006516.4(SLC2A1):c.-202G>C
|
rs1016572946
|
|
|
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)
|
rs755946345
|
|
|
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del)
|
rs587784389
|
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
|
NM_006516.4(SLC2A1):c.1011C>T (p.His337=)
|
rs2229681
|
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
|
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)
|
rs80359812
|
|
|
NM_006516.4(SLC2A1):c.1023C>T (p.Leu341=)
|
rs143588685
|
|
|
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)
|
rs1643457017
|
|
|
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)
|
rs1570601007
|
|
|
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs)
|
rs1553155973
|
|
|
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)
|
rs2124447951
|
|
|
NM_006516.4(SLC2A1):c.1075-14G>A
|
rs777450540
|
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
|
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer)
|
rs587784391
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
|
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)
|
rs2124446490
|
|
|
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)
|
rs2124446500
|
|
|
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
|
|
|
|
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser)
|
rs1643442833
|
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
|
NM_006516.4(SLC2A1):c.115-2A>G
|
rs2124450950
|
|
|
NM_006516.4(SLC2A1):c.1155C>T (p.Pro385=)
|
rs76860965
|
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
|
NM_006516.4(SLC2A1):c.1199G>T (p.Arg400Leu)
|
rs776095655
|
|
|
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)
|
rs1570590905
|
|
|
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)
|
rs2124446305
|
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
|
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)
|
rs1570590859
|
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
|
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg)
|
rs1557644984
|
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
|
NM_006516.4(SLC2A1):c.1272T>G (p.Tyr424Ter)
|
rs796053264
|
|
|
NM_006516.4(SLC2A1):c.1278+12del
|
rs368437445
|
|
|
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT
|
rs2124446051
|
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
|
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)
|
rs2124445661
|
|
|
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)
|
rs75485205
|
|
|
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
|
rs1570590528
|
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
|
NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)
|
|
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
|
NM_006516.4(SLC2A1):c.1347C>A (p.Tyr449Ter)
|
rs80359828
|
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
|
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs)
|
rs2124445519
|
|
|
NM_006516.4(SLC2A1):c.1362G>A (p.Glu454=)
|
rs1469205406
|
|
|
NM_006516.4(SLC2A1):c.1366A>T (p.Lys456Ter)
|
rs80359829
|
|
|
NM_006516.4(SLC2A1):c.136C>T (p.Gln46Ter)
|
rs754791604
|
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
|
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)
|
rs150863093
|
|
|
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
|
|
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
|
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
|
|
|
|
NM_006516.4(SLC2A1):c.16A>T (p.Lys6Ter)
|
|
|
|
NM_006516.4(SLC2A1):c.18+1G>A
|
rs80359841
|
|
|
NM_006516.4(SLC2A1):c.18+5439G>T
|
rs1570607542
|
|
|
NM_006516.4(SLC2A1):c.19-2A>G
|
rs796053272
|
|
|
NM_006516.4(SLC2A1):c.194G>A (p.Trp65Ter)
|
|
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
|
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val)
|
rs2124450819
|
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
|
NM_006516.4(SLC2A1):c.272G>A (p.Gly91Asp)
|
rs80359814
|
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
|
NM_006516.4(SLC2A1):c.274del (p.Arg92fs)
|
rs1570593820
|
|
|
NM_006516.4(SLC2A1):c.275+1del
|
rs2124450705
|
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
|
NM_006516.4(SLC2A1):c.276-1G>A
|
rs1570593665
|
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
|
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)
|
rs267607060
|
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
|
NM_006516.4(SLC2A1):c.293del (p.Met98fs)
|
rs1643481831
|
|
|
NM_006516.4(SLC2A1):c.299dup (p.Asn100fs)
|
rs1557646673
|
|
|
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)
|
rs2124461926
|
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
|
NM_006516.4(SLC2A1):c.2T>G (p.Met1Arg)
|
|
|
|
NM_006516.4(SLC2A1):c.312C>T (p.Phe104=)
|
rs76672402
|
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
|
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
|
rs1643480923
|
|
|
NM_006516.4(SLC2A1):c.354C>T (p.Ser118=)
|
rs1393465480
|
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
|
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)
|
rs80359816
|
|
|
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)
|
rs2124461913
|
|
|
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)
|
rs80359819
|
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
|
NM_006516.4(SLC2A1):c.418G>A (p.Val140Met)
|
rs1057517822
|
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
|
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)
|
rs1570601060
|
|
|
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)
|
rs1413339367
|
|
|
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)
|
|
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
|
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
|
rs773339124
|
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
|
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter)
|
rs1345986424
|
|
|
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
|
|
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
|
NM_006516.4(SLC2A1):c.517-1G>C
|
rs869312673
|
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
|
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)
|
rs2124449452
|
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
|
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)
|
rs2124449417
|
|
|
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs)
|
rs878853161
|
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
|
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=)
|
rs2229682
|
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
|
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del)
|
rs1557646075
|
|
|
NM_006516.4(SLC2A1):c.624del (p.Glu209fs)
|
rs1570592844
|
|
|
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)
|
rs1387203768
|
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
|
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)
|
rs387907312
|
|
|
NM_006516.4(SLC2A1):c.634del (p.Arg212fs)
|
rs2124449299
|
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
|
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
|
rs2124449287
|
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
|
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)
|
rs796053248
|
|
|
NM_006516.4(SLC2A1):c.679+3A>G
|
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
|
NM_006516.4(SLC2A1):c.679+7G>C
|
rs13306757
|
|
|
NM_006516.4(SLC2A1):c.679+7G>T
|
rs13306757
|
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
|
NM_006516.4(SLC2A1):c.680-3C>G
|
rs112081052
|
|
|
NM_006516.4(SLC2A1):c.684A>G (p.Leu228=)
|
rs2124449097
|
|
|
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
|
rs2124449089
|
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
|
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val)
|
rs2124449030
|
|
|
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
|
rs1064795363
|
|
|
NM_006516.4(SLC2A1):c.732del (p.Met244fs)
|
rs1553156069
|
|
|
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)
|
rs1570592604
|
|
|
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
|
|
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
|
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)
|
|
|
|
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)
|
rs587784396
|
|
|
NM_006516.4(SLC2A1):c.750G>A (p.Gln250=)
|
rs1553156067
|
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
|
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)
|
rs1557651193
|
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
|
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)
|
rs1553156053
|
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
|
NM_006516.4(SLC2A1):c.835C>T (p.Gln279Ter)
|
rs1553156051
|
|
|
NM_006516.4(SLC2A1):c.839T>A (p.Leu280Gln)
|
|
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
|
NM_006516.4(SLC2A1):c.844C>T (p.Gln282Ter)
|
rs1057521066
|
|
|
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)
|
rs1553156047
|
|
|
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)
|
rs587784397
|
|
|
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)
|
rs2124448826
|
|
|
NM_006516.4(SLC2A1):c.852G>A (p.Leu284=)
|
rs1553156049
|
|
|
NM_006516.4(SLC2A1):c.857G>A (p.Gly286Asp)
|
rs864309514
|
|
|
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)
|
rs2124448406
|
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
|
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
|
|
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
|
NM_006516.4(SLC2A1):c.939dup (p.Gly314fs)
|
rs886041590
|
|
|
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)
|
rs121909739
|
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
|
NM_006516.4(SLC2A1):c.945C>T (p.Ile315=)
|
rs780528770
|
|
|
NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro)
|
rs2124448276
|
|
|
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
|
|
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
|
NM_006516.4(SLC2A1):c.972+20C>G
|
rs781545555
|
|
|
NM_006516.4(SLC2A1):c.972+7C>G
|
rs1553155998
|
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
|
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys)
|
rs2124448063
|
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
|
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser)
|
rs1295611134
|
|
|
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser)
|
rs1656013992
|
|
|
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
|
|
|
|
NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)
|
|
|
|
NM_006618.5(KDM5B):c.2074T>G (p.Cys692Gly)
|
|
|
|
NM_006618.5(KDM5B):c.2117del (p.Cys706fs)
|
|
|
|
NM_006618.5(KDM5B):c.2198+25dup
|
rs3216061
|
|
|
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
|
|
|
|
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu)
|
rs1244407080
|
|
|
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
|
|
|
|
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
|
|
|
|
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val)
|
rs1655336497
|
|
|
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
|
|
|
|
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro)
|
rs748231291
|
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
|
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
|
|
|
|
NM_006618.5(KDM5B):c.3085-4T>G
|
|
|
|
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=)
|
rs1141109
|
|
|
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
|
|
|
|
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
|
|
|
|
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
|
|
|
|
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)
|
rs1572705473
|
|
|
NM_006618.5(KDM5B):c.3799del (p.Gln1267fs)
|
rs1558479778
|
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
|
NM_006618.5(KDM5B):c.4109_4113del (p.Leu1370fs)
|
|
|
|
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
|
|
|
|
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
|
|
|
|
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
|
|
|
|
NM_006618.5(KDM5B):c.453_454del (p.Trp152fs)
|
|
|
|
NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)
|
|
|
|
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
|
|
|
|
NM_006618.5(KDM5B):c.622dup (p.Tyr208fs)
|
rs1558501648
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
|
NM_006618.5(KDM5B):c.787C>T (p.Pro263Ser)
|
rs375695605
|
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
|
NM_006721.4(ADK):c.*157G>A
|
rs886047237
|
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
|
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
|
|
|
|
NM_006721.4(ADK):c.441C>T (p.Asp147=)
|
rs886047236
|
|
|
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)
|
rs1219524919
|
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
|
NM_006721.4(ADK):c.66-23967G>T
|
rs1842356778
|
|
|
NM_006721.4(ADK):c.66-24083G>C
|
rs886047233
|
|
|
NM_006721.4(ADK):c.66-24133G>A
|
rs1036870011
|
|
|
NM_006721.4(ADK):c.66-24151A>T
|
rs886047232
|
|
|
NM_006721.4(ADK):c.704A>C (p.Asp235Ala)
|
rs397514453
|
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
|
NM_006721.4(ADK):c.89G>A (p.Gly30Glu)
|
rs397514454
|
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
|
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)
|
rs397514452
|
|
|
NM_006755.1(TALDO1):c.-30_-19del
|
rs71464113
|
|
|
NM_006755.1(TALDO1):c.-36_-34CGC[7]
|
rs71464113
|
|
|
NM_006755.2(TALDO1):c.330-10_330delinsAGA
|
rs796249314
|
|
|
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)
|
rs1862905275
|
|
|
NM_006755.2(TALDO1):c.409G>T (p.Asp137Tyr)
|
rs376434268
|
|
|
NM_006755.2(TALDO1):c.488A>G (p.His163Arg)
|
rs886048664
|
|
|
NM_006755.2(TALDO1):c.512C>T (p.Ser171Phe)
|
|
|
|
NM_006755.2(TALDO1):c.512_514del (p.Ser171del)
|
rs137853085
|
|
|
NM_006755.2(TALDO1):c.516dup (p.Ala173fs)
|
rs797045110
|
|
|
NM_006755.2(TALDO1):c.568G>T (p.Val190Phe)
|
|
|
|
NM_006755.2(TALDO1):c.643_644del (p.Lys215fs)
|
|
|
|
NM_006755.2(TALDO1):c.669C>G (p.Tyr223Ter)
|
rs1448870204
|
|
|
NM_006755.2(TALDO1):c.695_696del (p.Ile232fs)
|
|
|
|
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly)
|
rs201836196
|
|
|
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)
|
rs1863002079
|
|
|
NM_006755.2(TALDO1):c.78C>G (p.Ala26=)
|
rs886048659
|
|
|
NM_006755.2(TALDO1):c.793del (p.Gln265fs)
|
rs727502867
|
|
|
NM_006755.2(TALDO1):c.884G>A (p.Arg295His)
|
rs1564994861
|
|
|
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)
|
rs1863010811
|
|
|
NM_006755.2(TALDO1):c.931G>T (p.Gly311Trp)
|
rs753787975
|
|
|
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)
|
rs866261597
|
|
|
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)
|
rs1863012392
|
|
|
NM_006755.2(TALDO1):c.982-8_982-5del
|
rs773135701
|
|
|
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)
|
rs1554486894
|
|
|
NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)
|
|
|
|
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
|
|
|
|
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
|
|
|
|
NM_006765.4(TUSC3):c.159A>C (p.Val53=)
|
|
|
|
NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)
|
rs387906804
|
|
|
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
|
|
|
|
NM_006765.4(TUSC3):c.225del (p.Lys75fs)
|
rs1554461593
|
|
|
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
|
|
|
|
NM_006765.4(TUSC3):c.255C>T (p.Ser85=)
|
|
|
|
NM_006765.4(TUSC3):c.309-15C>G
|
|
|
|
NM_006765.4(TUSC3):c.309-16C>T
|
|
|
|
NM_006765.4(TUSC3):c.420dup (p.Gln141fs)
|
rs773426468
|
|
|
NM_006765.4(TUSC3):c.426+16G>A
|
|
|
|
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
|
|
|
|
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)
|
rs2129132447
|
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
|
NM_006765.4(TUSC3):c.568-2A>G
|
rs2129179995
|
|
|
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
|
|
|
|
NM_006765.4(TUSC3):c.609T>G (p.Ala203=)
|
|
|
|
NM_006765.4(TUSC3):c.640T>C (p.Leu214=)
|
|
|
|
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val)
|
rs1807455847
|
|
|
NM_006765.4(TUSC3):c.708+16G>T
|
|
|
|
NM_006765.4(TUSC3):c.786dup (p.Asn263fs)
|
rs1585215916
|
|
|
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
|
|
|
|
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
|
|
|
|
NM_006765.4(TUSC3):c.867C>T (p.Ala289=)
|
|
|
|
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_006765.4(TUSC3):c.87C>T (p.Leu29=)
|
rs78626330
|
|
|
NM_006765.4(TUSC3):c.924T>G (p.Val308=)
|
|
|
|
NM_006765.4(TUSC3):c.938-10C>G
|
|
|
|
NM_006765.4(TUSC3):c.93G>C (p.Leu31=)
|
|
|
|
NM_006765.4(TUSC3):c.946C>T (p.Leu316=)
|
|
|
|
NM_006765.4(TUSC3):c.94C>T (p.Leu32=)
|
|
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
|
NM_006828.4(ASCC3):c.1597-2A>G
|
|
|
|
NM_006828.4(ASCC3):c.3434del (p.Lys1145fs)
|
rs759097017
|
|
|
NM_006828.4(ASCC3):c.3522dup (p.Cys1175fs)
|
|
|
|
NM_006828.4(ASCC3):c.3631C>T (p.Gln1211Ter)
|
|
|
|
NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)
|
|
|
|
NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)
|
|
|
|
NM_006828.4(ASCC3):c.4553G>A (p.Arg1518His)
|
|
|
|
NM_006828.4(ASCC3):c.4690T>C (p.Ser1564Pro)
|
|
|
|
NM_006828.4(ASCC3):c.4955G>A (p.Gly1652Asp)
|
|
|
|
NM_006828.4(ASCC3):c.4984A>T (p.Ile1662Phe)
|
|
|
|
NM_006828.4(ASCC3):c.5281C>T (p.Arg1761Ter)
|
|
|
|
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
|
|
|
|
NM_006828.4(ASCC3):c.801+1G>T
|
rs1432792609
|
|
|
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.1063G>C (p.Ala355Pro)
|
rs1745058899
|
|
|
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.393+7C>G
|
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.475G>A (p.Glu159Lys)
|
rs1744708135
|
|
|
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys)
|
rs869320760
|
|
|
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.587C>A (p.Thr196Asn)
|
rs1744715983
|
|
|
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.643del (p.Asp215fs)
|
rs1744806313
|
|
|
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_006895.3(HNMT):c.137+2287G>A
|
|
|
|
NM_006895.3(HNMT):c.179G>A (p.Gly60Asp)
|
rs758252808
|
|
|
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu)
|
rs755441595
|
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
|
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
|
|
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
|
NM_007180.3(TREH):c.259C>A (p.Gln87Lys)
|
|
|
|
NM_007180.3(TREH):c.90-9_106del
|
rs527655595
|
|
|
NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter)
|
rs869320673
|
|
|
NM_012096.3(APPL1):c.280G>A (p.Asp94Asn)
|
rs796065047
|
|
|
NM_012096.3(APPL1):c.374-9C>T
|
|
|
|
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)
|
|
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
|
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
|
|
|
|
NM_012203.2(GRHPR):c.*132T>C
|
rs1823695311
|
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
|
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
|
|
|
|
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
|
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
|
NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)
|
|
|
|
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter)
|
rs202022170
|
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
|
NM_012203.2(GRHPR):c.156C>G (p.Ala52=)
|
rs754532633
|
|
|
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
|
|
|
|
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
|
|
|
|
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
|
|
|
|
NM_012203.2(GRHPR):c.188_189del (p.Val63fs)
|
rs1554746565
|
|
|
NM_012203.2(GRHPR):c.1A>G (p.Met1Val)
|
rs1554746094
|
|
|
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu)
|
rs1554746094
|
|
|
NM_012203.2(GRHPR):c.206_214+11del
|
|
|
|
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
|
|
|
|
NM_012203.2(GRHPR):c.214+1G>C
|
rs1244822375
|
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
|
NM_012203.2(GRHPR):c.215-11C>T
|
rs796052076
|
|
|
NM_012203.2(GRHPR):c.215-2_215-1del
|
rs1554746793
|
|
|
NM_012203.2(GRHPR):c.228dup (p.Val77fs)
|
rs1057517238
|
|
|
NM_012203.2(GRHPR):c.248_249del (p.Val83fs)
|
rs672601351
|
|
|
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
|
|
|
|
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
|
|
|
|
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro)
|
rs1588751701
|
|
|
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
|
|
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
|
NM_012203.2(GRHPR):c.287+2T>C
|
rs1564297234
|
|
|
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
|
|
|
|
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu)
|
rs796052078
|
|
|
NM_012203.2(GRHPR):c.287_287+4delinsCCC
|
|
|
|
NM_012203.2(GRHPR):c.288-1G>C
|
|
|
|
NM_012203.2(GRHPR):c.288-2_288del
|
rs796052081
|
|
|
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg)
|
rs1554746097
|
|
|
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter)
|
rs1823086297
|
|
|
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile)
|
rs761490627
|
|
|
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
|
|
|
|
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter)
|
rs180177307
|
|
|
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
|
|
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
|
|
|
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
|
|
|
|
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
|
|
|
|
NM_012203.2(GRHPR):c.375del (p.Leu126fs)
|
rs180177308
|
|
|
NM_012203.2(GRHPR):c.390C>T (p.Ile130=)
|
rs752869610
|
|
|
NM_012203.2(GRHPR):c.403_404+1del
|
rs1554747007
|
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
|
NM_012203.2(GRHPR):c.404del (p.Asn135fs)
|
rs1057516299
|
|
|
NM_012203.2(GRHPR):c.405-1G>A
|
rs779208888
|
|
|
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
|
|
|
|
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs)
|
rs1057517333
|
|
|
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs)
|
rs1057517026
|
|
|
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)
|
rs1243273371
|
|
|
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter)
|
rs1341484544
|
|
|
NM_012203.2(GRHPR):c.45del (p.Ala17fs)
|
rs180177311
|
|
|
NM_012203.2(GRHPR):c.493+2T>A
|
rs180177313
|
|
|
NM_012203.2(GRHPR):c.494-2A>G
|
|
|
|
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
|
|
|
|
NM_012203.2(GRHPR):c.496del (p.Gln166fs)
|
rs1554747871
|
|
|
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
|
|
|
|
NM_012203.2(GRHPR):c.501del (p.Ile168fs)
|
|
|
|
NM_012203.2(GRHPR):c.515del (p.Leu172fs)
|
rs1057516990
|
|
|
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
|
|
|
|
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
|
|
|
|
NM_012203.2(GRHPR):c.540del (p.Leu181fs)
|
rs180177315
|
|
|
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
|
|
|
|
NM_012203.2(GRHPR):c.589del (p.Ala197fs)
|
rs1564300408
|
|
|
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs)
|
rs1588757756
|
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
|
NM_012203.2(GRHPR):c.598+1G>T
|
rs111256477
|
|
|
NM_012203.2(GRHPR):c.598+1del
|
rs1554747933
|
|
|
NM_012203.2(GRHPR):c.599-1G>A
|
|
|
|
NM_012203.2(GRHPR):c.599-1G>C
|
rs1422977131
|
|
|
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro)
|
rs886063930
|
|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
|
|
|
|
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs)
|
rs1564300888
|
|
|
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
|
|
|
|
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
|
|
|
|
NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)
|
|
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
|
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
|
|
|
|
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
|
|
|
|
NM_012203.2(GRHPR):c.694del (p.Gln232fs)
|
rs796052082
|
|
|
NM_012203.2(GRHPR):c.737dup
|
|
|
|
NM_012203.2(GRHPR):c.755dup (p.Asp252fs)
|
rs1057516823
|
|
|
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
|
|
|
|
NM_012203.2(GRHPR):c.769dup (p.Ala257fs)
|
|
|
|
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
|
|
|
|
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
|
|
|
|
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs)
|
rs1554748528
|
|
|
NM_012203.2(GRHPR):c.783del (p.Lys262fs)
|
|
|
|
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter)
|
rs1554748534
|
|
|
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
|
|
|
|
NM_012203.2(GRHPR):c.83+1G>A
|
|
|
|
NM_012203.2(GRHPR):c.83+1G>C
|
rs1822898131
|
|
|
NM_012203.2(GRHPR):c.83+51G>A
|
rs1554746162
|
|
|
NM_012203.2(GRHPR):c.83+51_83+52delinsA
|
rs35891798
|
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
|
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
|
|
|
|
NM_012203.2(GRHPR):c.84-2A>G
|
rs180177319
|
|
|
NM_012203.2(GRHPR):c.84-8_84-5del
|
rs180177320
|
|
|
NM_012203.2(GRHPR):c.849dup (p.Thr284fs)
|
rs1554748574
|
|
|
NM_012203.2(GRHPR):c.863del (p.Cys288fs)
|
rs1554748598
|
|
|
NM_012203.2(GRHPR):c.865+1del
|
|
|
|
NM_012203.2(GRHPR):c.865+2T>C
|
|
|
|
NM_012203.2(GRHPR):c.865+2dup
|
rs1218448371
|
|
|
NM_012203.2(GRHPR):c.866_867del (p.Val289fs)
|
rs180177321
|
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
|
NM_012203.2(GRHPR):c.871C>T (p.Leu291=)
|
rs1135283
|
|
|
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro)
|
rs1588768370
|
|
|
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser)
|
rs1823674233
|
|
|
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)
|
rs200632069
|
|
|
NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)
|
|
|
|
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
|
|
|
|
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)
|
|
|
|
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
|
|
|
|
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp)
|
rs180177324
|
|
|
NM_012203.2(GRHPR):c.935dup (p.Asn312fs)
|
rs1554749668
|
|
|
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
|
|
|
|
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)
|
rs1554749672
|
|
|
NM_012203.2(GRHPR):c.954del (p.Glu320fs)
|
rs1057516831
|
|
|
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
|
|
|
|
NM_012203.2(GRHPR):c.964_965del (p.Met322fs)
|
rs1554749707
|
|
|
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr)
|
rs180177325
|
|
|
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg)
|
rs180177325
|
|
|
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)
|
rs1554749727
|
|
|
NM_012203.2:c.215_493del
|
|
|
|
NM_012434.5(SLC17A5):c.*1056A>G
|
rs938117850
|
|
|
NM_012434.5(SLC17A5):c.*1332T>A
|
rs886061728
|
|
|
NM_012434.5(SLC17A5):c.*1332del
|
rs559455789
|
|
|
NM_012434.5(SLC17A5):c.*1587del
|
rs886061725
|
|
|
NM_012434.5(SLC17A5):c.*501G>A
|
rs933119464
|
|
|
NM_012434.5(SLC17A5):c.*595C>G
|
rs540399289
|
|
|
NM_012434.5(SLC17A5):c.*666C>T
|
rs886061732
|
|
|
NM_012434.5(SLC17A5):c.*764G>A
|
rs139964473
|
|
|
NM_012434.5(SLC17A5):c.-56C>G
|
rs886061736
|
|
|
NM_012434.5(SLC17A5):c.-73C>A
|
rs1769998487
|
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
|
NM_012434.5(SLC17A5):c.1008A>G (p.Leu336=)
|
|
|
|
NM_012434.5(SLC17A5):c.1019dup (p.Leu340fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1023T>C (p.Cys341=)
|
|
|
|
NM_012434.5(SLC17A5):c.1032G>A (p.Leu344=)
|
rs2150091563
|
|
|
NM_012434.5(SLC17A5):c.1035_1036insCTTATACACA (p.Gly346fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1039C>T (p.Gln347Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)
|
rs1767808770
|
|
|
NM_012434.5(SLC17A5):c.1048del (p.Asp350fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1050C>T (p.Asp350=)
|
|
|
|
NM_012434.5(SLC17A5):c.1086del (p.Cys362fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile)
|
rs2150091513
|
|
|
NM_012434.5(SLC17A5):c.1092C>T (p.Arg364=)
|
|
|
|
NM_012434.5(SLC17A5):c.1095A>G (p.Arg365=)
|
|
|
|
NM_012434.5(SLC17A5):c.1096delinsTGTGTATAAGAGACAGT (p.Ile366delinsCysValTer)
|
|
|
|
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
|
|
|
|
NM_012434.5(SLC17A5):c.1111+10G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1111+15C>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+16A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+17G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1111+1G>T
|
rs777862172
|
|
|
NM_012434.5(SLC17A5):c.1111+8A>T
|
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1111+9A>T
|
|
|
|
NM_012434.5(SLC17A5):c.1111G>A (p.Gly371Arg)
|
rs1277966688
|
|
|
NM_012434.5(SLC17A5):c.1112-12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1112-12_1112-5del
|
rs2150086759
|
|
|
NM_012434.5(SLC17A5):c.1112-14C>T
|
|
|
|
NM_012434.5(SLC17A5):c.1112-8A>C
|
rs1581962639
|
|
|
NM_012434.5(SLC17A5):c.1112-9T>A
|
|
|
|
NM_012434.5(SLC17A5):c.1121del (p.Gly374fs)
|
rs1057517119
|
|
|
NM_012434.5(SLC17A5):c.1127del (p.Ala376fs)
|
rs1057517111
|
|
|
NM_012434.5(SLC17A5):c.1131A>G (p.Val377=)
|
rs2150086727
|
|
|
NM_012434.5(SLC17A5):c.1131A>T (p.Val377=)
|
|
|
|
NM_012434.5(SLC17A5):c.1137G>C (p.Leu379=)
|
|
|
|
NM_012434.5(SLC17A5):c.1140A>C (p.Val380=)
|
rs2150086711
|
|
|
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.1149C>T (p.Gly383=)
|
|
|
|
NM_012434.5(SLC17A5):c.114T>C (p.Ala38=)
|
|
|
|
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1161T>C (p.Cys387=)
|
|
|
|
NM_012434.5(SLC17A5):c.1167T>C (p.Tyr389=)
|
rs1054309453
|
|
|
NM_012434.5(SLC17A5):c.1176C>A (p.Ala392=)
|
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
|
NM_012434.5(SLC17A5):c.1182T>C (p.Ala394=)
|
|
|
|
NM_012434.5(SLC17A5):c.1197A>C (p.Ser399=)
|
|
|
|
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
|
|
|
|
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
|
|
|
|
NM_012434.5(SLC17A5):c.1208del (p.Gly403fs)
|
rs1554161865
|
|
|
NM_012434.5(SLC17A5):c.120C>T (p.Tyr40=)
|
|
|
|
NM_012434.5(SLC17A5):c.1215T>C (p.Phe405=)
|
rs2150086614
|
|
|
NM_012434.5(SLC17A5):c.1223del (p.Ser408fs)
|
rs868677428
|
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
|
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.1254T>C (p.Ala418=)
|
|
|
|
NM_012434.5(SLC17A5):c.1259+11A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1259+12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1259+14_1259+15del
|
|
|
|
NM_012434.5(SLC17A5):c.1259+18G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1259+1G>T
|
rs146095590
|
|
|
NM_012434.5(SLC17A5):c.1259+2T>C
|
rs1064794334
|
|
|
NM_012434.5(SLC17A5):c.1259+3G>A
|
|
|
|
NM_012434.5(SLC17A5):c.1259+8C>G
|
|
|
|
NM_012434.5(SLC17A5):c.1260-15A>G
|
|
|
|
NM_012434.5(SLC17A5):c.1260-2A>C
|
|
|
|
NM_012434.5(SLC17A5):c.1260-4A>G
|
rs764321218
|
|
|
NM_012434.5(SLC17A5):c.1260-5T>A
|
|
|
|
NM_012434.5(SLC17A5):c.1260-6C>T
|
rs2150075911
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
|
NM_012434.5(SLC17A5):c.1263T>C (p.Tyr421=)
|
|
|
|
NM_012434.5(SLC17A5):c.1272C>T (p.Ile424=)
|
rs374241516
|
|
|
NM_012434.5(SLC17A5):c.1275C>T (p.Leu425=)
|
|
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
|
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr)
|
rs545973
|
|
|
NM_012434.5(SLC17A5):c.1287A>G (p.Thr429=)
|
|
|
|
NM_012434.5(SLC17A5):c.1293A>G (p.Thr431=)
|
|
|
|
NM_012434.5(SLC17A5):c.129A>G (p.Ala43=)
|
rs966339277
|
|
|
NM_012434.5(SLC17A5):c.1302T>G (p.Thr434=)
|
|
|
|
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
|
|
|
|
NM_012434.5(SLC17A5):c.1317T>C (p.Val439=)
|
|
|
|
NM_012434.5(SLC17A5):c.1320G>C (p.Gly440=)
|
rs373258092
|
|
|
NM_012434.5(SLC17A5):c.1323C>T (p.Pro441=)
|
|
|
|
NM_012434.5(SLC17A5):c.1326C>T (p.Val442=)
|
|
|
|
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)
|
rs1554160766
|
|
|
NM_012434.5(SLC17A5):c.1341del (p.Thr448fs)
|
|
|
|
NM_012434.5(SLC17A5):c.1344C>T (p.Thr448=)
|
|
|
|
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.1350+13T>G
|
|
|
|
NM_012434.5(SLC17A5):c.1350+15T>C
|
|
|
|
NM_012434.5(SLC17A5):c.1350+1G>A
|
rs1057516951
|
|
|
NM_012434.5(SLC17A5):c.1350+8G>C
|
rs918930871
|
|
|
NM_012434.5(SLC17A5):c.1351-15del
|
rs1341837566
|
|
|
NM_012434.5(SLC17A5):c.1351-15dup
|
|
|
|
NM_012434.5(SLC17A5):c.1351-2A>G
|
rs1554160244
|
|
|
NM_012434.5(SLC17A5):c.1351-5T>C
|
rs2150071217
|
|
|
NM_012434.5(SLC17A5):c.1351-9C>A
|
rs1201860872
|
|
|
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)
|
rs886061735
|
|
|
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)
|
rs1554160239
|
|
|
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.1374C>T (p.Thr458=)
|
|
|
|
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
|
|
|
NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)
|
|
|
|
NM_012434.5(SLC17A5):c.1401T>C (p.Asn467=)
|
rs1017115082
|
|
|
NM_012434.5(SLC17A5):c.1407T>C (p.Phe469=)
|
|
|
|
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)
|
rs1554160223
|
|
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.1422T>C (p.Phe474=)
|
rs766608932
|
|
|
NM_012434.5(SLC17A5):c.1440T>C (p.Gly480=)
|
rs2150071076
|
|
|
NM_012434.5(SLC17A5):c.144T>C (p.Phe48=)
|
|
|
|
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs)
|
rs1562000876
|
|
|
NM_012434.5(SLC17A5):c.1452C>T (p.Asn484=)
|
|
|
|
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
|
|
|
|
NM_012434.5(SLC17A5):c.146del (p.Gly49fs)
|
rs2150120888
|
|
|
NM_012434.5(SLC17A5):c.1473T>C (p.His491=)
|
|
|
|
NM_012434.5(SLC17A5):c.1479C>T (p.His493=)
|
|
|
|
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)
|
rs1554160206
|
|
|
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)
|
rs1554160209
|
|
|
NM_012434.5(SLC17A5):c.1482A>G (p.Arg494=)
|
rs2150071024
|
|
|
NM_012434.5(SLC17A5):c.156T>C (p.Ile52=)
|
|
|
|
NM_012434.5(SLC17A5):c.157del (p.Val53fs)
|
rs2150120881
|
|
|
NM_012434.5(SLC17A5):c.159G>A (p.Val53=)
|
|
|
|
NM_012434.5(SLC17A5):c.169C>T (p.Arg57Cys)
|
rs754150739
|
|
|
NM_012434.5(SLC17A5):c.178C>T (p.Leu60=)
|
|
|
|
NM_012434.5(SLC17A5):c.180G>C (p.Leu60=)
|
|
|
|
NM_012434.5(SLC17A5):c.192A>G (p.Leu64=)
|
|
|
|
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.198T>C (p.Asp66=)
|
rs2150120840
|
|
|
NM_012434.5(SLC17A5):c.1A>C (p.Met1Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.1A>G (p.Met1Val)
|
rs1304456183
|
|
|
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu)
|
rs1304456183
|
|
|
NM_012434.5(SLC17A5):c.1del (p.Met1*)
|
|
|
|
NM_012434.5(SLC17A5):c.204del (p.Asp69fs)
|
rs1057516549
|
|
|
NM_012434.5(SLC17A5):c.215_216del (p.Thr72fs)
|
rs1057516505
|
|
|
NM_012434.5(SLC17A5):c.215del (p.Thr72fs)
|
rs1057517269
|
|
|
NM_012434.5(SLC17A5):c.221T>A (p.Leu74Ter)
|
rs1474077825
|
|
|
NM_012434.5(SLC17A5):c.221T>G (p.Leu74Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.222A>G (p.Leu74=)
|
rs760030802
|
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
|
|
|
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
|
|
|
|
NM_012434.5(SLC17A5):c.231T>C (p.Asn77=)
|
|
|
|
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.240C>A (p.Ser80=)
|
rs374617105
|
|
|
NM_012434.5(SLC17A5):c.240C>T (p.Ser80=)
|
rs374617105
|
|
|
NM_012434.5(SLC17A5):c.243G>A (p.Lys81=)
|
rs2150120782
|
|
|
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro)
|
rs199727701
|
|
|
NM_012434.5(SLC17A5):c.24G>A (p.Leu8=)
|
|
|
|
NM_012434.5(SLC17A5):c.254del (p.Glu85fs)
|
|
|
|
NM_012434.5(SLC17A5):c.261T>C (p.Ser87=)
|
rs1389502020
|
|
|
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.264T>C (p.Ala88=)
|
rs777927222
|
|
|
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
|
|
|
|
NM_012434.5(SLC17A5):c.267del (p.Pro89_Ile90insTer)
|
|
|
|
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala)
|
rs2150120727
|
|
|
NM_012434.5(SLC17A5):c.286C>T (p.Gln96Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.289dup (p.Thr97fs)
|
|
|
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
|
|
|
NM_012434.5(SLC17A5):c.291+10A>T
|
rs770302216
|
|
|
NM_012434.5(SLC17A5):c.291+13T>G
|
|
|
|
NM_012434.5(SLC17A5):c.291+14T>C
|
|
|
|
NM_012434.5(SLC17A5):c.291+16dup
|
|
|
|
NM_012434.5(SLC17A5):c.291+7G>A
|
rs1211429440
|
|
|
NM_012434.5(SLC17A5):c.291+7G>T
|
|
|
|
NM_012434.5(SLC17A5):c.292-13C>G
|
|
|
|
NM_012434.5(SLC17A5):c.292-15T>C
|
|
|
|
NM_012434.5(SLC17A5):c.292-1G>C
|
rs1554164322
|
|
|
NM_012434.5(SLC17A5):c.292-2A>C
|
rs1057516528
|
|
|
NM_012434.5(SLC17A5):c.292-4G>C
|
rs370580788
|
|
|
NM_012434.5(SLC17A5):c.294T>C (p.Gly98=)
|
rs2150118517
|
|
|
NM_012434.5(SLC17A5):c.294_310del
|
|
|
|
NM_012434.5(SLC17A5):c.306A>G (p.Gln102=)
|
rs2150118493
|
|
|
NM_012434.5(SLC17A5):c.308G>A (p.Trp103Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)
|
rs386833991
|
|
|
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn)
|
rs2150118480
|
|
|
NM_012434.5(SLC17A5):c.321T>G (p.Thr107=)
|
|
|
|
NM_012434.5(SLC17A5):c.321_322insGTCTCTTATA (p.Gln108fs)
|
|
|
|
NM_012434.5(SLC17A5):c.329G>A (p.Trp110Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.342C>G (p.Ser114=)
|
rs2150118452
|
|
|
NM_012434.5(SLC17A5):c.349dup (p.Tyr117fs)
|
rs772039085
|
|
|
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.360C>A (p.Ile120=)
|
|
|
|
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
|
|
|
|
NM_012434.5(SLC17A5):c.36T>C (p.Asp12=)
|
rs776780567
|
|
|
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
|
|
|
|
NM_012434.5(SLC17A5):c.384T>A (p.Tyr128Ter)
|
rs1057516257
|
|
|
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr)
|
rs201070520
|
|
|
NM_012434.5(SLC17A5):c.390del (p.Ser131fs)
|
|
|
|
NM_012434.5(SLC17A5):c.39C>G (p.Gly13=)
|
|
|
|
NM_012434.5(SLC17A5):c.3del (p.Met1fs)
|
|
|
|
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
|
|
|
|
NM_012434.5(SLC17A5):c.407A>G (p.Lys136Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.408A>G (p.Lys136=)
|
|
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
|
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.423del (p.Phe141fs)
|
rs1057516419
|
|
|
NM_012434.5(SLC17A5):c.436_437insACTCCTAAAT (p.Thr146delinsAsnSerTer)
|
|
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
|
NM_012434.5(SLC17A5):c.441T>A (p.Ala147=)
|
|
|
|
NM_012434.5(SLC17A5):c.441T>C (p.Ala147=)
|
rs2150118328
|
|
|
NM_012434.5(SLC17A5):c.444C>T (p.Val148=)
|
rs754150320
|
|
|
NM_012434.5(SLC17A5):c.447C>T (p.Leu149=)
|
|
|
|
NM_012434.5(SLC17A5):c.453G>A (p.Leu151=)
|
rs138093163
|
|
|
NM_012434.5(SLC17A5):c.456C>T (p.Phe152=)
|
|
|
|
NM_012434.5(SLC17A5):c.458_460delinsATCTAAGTGT (p.Thr153fs)
|
|
|
|
NM_012434.5(SLC17A5):c.45G>A (p.Glu15=)
|
|
|
|
NM_012434.5(SLC17A5):c.479del (p.Gly160fs)
|
|
|
|
NM_012434.5(SLC17A5):c.485_486insCAAGAGAGCAAAATAC (p.Pro163fs)
|
|
|
|
NM_012434.5(SLC17A5):c.489A>G (p.Pro163=)
|
rs1769294987
|
|
|
NM_012434.5(SLC17A5):c.492C>T (p.Leu164=)
|
rs2150118298
|
|
|
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
|
|
|
|
NM_012434.5(SLC17A5):c.4A>C (p.Arg2=)
|
|
|
|
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.507A>C (p.Ala169=)
|
rs369334689
|
|
|
NM_012434.5(SLC17A5):c.507A>T (p.Ala169=)
|
|
|
|
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met)
|
rs2150128046
|
|
|
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del)
|
rs2150118267
|
|
|
NM_012434.5(SLC17A5):c.517C>T (p.Leu173=)
|
rs2150118262
|
|
|
NM_012434.5(SLC17A5):c.519A>G (p.Leu173=)
|
rs377101723
|
|
|
NM_012434.5(SLC17A5):c.51G>T (p.Thr17=)
|
rs1380441539
|
|
|
NM_012434.5(SLC17A5):c.525+16C>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+19_525+20del
|
|
|
|
NM_012434.5(SLC17A5):c.525+20T>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+36G>C
|
rs12192476
|
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
|
|
|
NM_012434.5(SLC17A5):c.525+9C>G
|
rs1769291251
|
|
|
NM_012434.5(SLC17A5):c.525+9C>T
|
|
|
|
NM_012434.5(SLC17A5):c.526-10C>T
|
|
|
|
NM_012434.5(SLC17A5):c.526-18_526-16del
|
|
|
|
NM_012434.5(SLC17A5):c.526-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.526-2A>G
|
rs1554164096
|
|
|
NM_012434.5(SLC17A5):c.526-8TC[2]
|
rs1581985046
|
|
|
NM_012434.5(SLC17A5):c.527G>T (p.Gly176Val)
|
|
|
|
NM_012434.5(SLC17A5):c.531T>A (p.Val177=)
|
|
|
|
NM_012434.5(SLC17A5):c.532dup (p.Thr178fs)
|
|
|
|
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu)
|
rs1454840237
|
|
|
NM_012434.5(SLC17A5):c.548A>G (p.His183Arg)
|
rs119491109
|
|
|
NM_012434.5(SLC17A5):c.549T>C (p.His183=)
|
|
|
|
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
|
|
|
|
NM_012434.5(SLC17A5):c.575del (p.Pro192fs)
|
|
|
|
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
|
|
|
|
NM_012434.5(SLC17A5):c.579T>G (p.Leu193=)
|
|
|
|
NM_012434.5(SLC17A5):c.579_580insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCCCCCCCCCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGGGGCTCCCCCTCTT (p.Leu193_Glu194insPhePhePhePhePhePheXaaXaaXaaXaaProProProProProSerArgThrGlyArgLeuAlaGlyGlnArgGlySerSerLeuProSerArgGlyGlyArgAlaGluGlyAlaProProLeu)
|
rs2150115214
|
|
|
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
|
|
|
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.600C>T (p.Ser200=)
|
rs2150115197
|
|
|
NM_012434.5(SLC17A5):c.606A>T (p.Ser202=)
|
|
|
|
NM_012434.5(SLC17A5):c.609T>C (p.Tyr203=)
|
|
|
|
NM_012434.5(SLC17A5):c.609dup (p.Ala204fs)
|
|
|
|
NM_012434.5(SLC17A5):c.60G>A (p.Thr20=)
|
|
|
|
NM_012434.5(SLC17A5):c.60G>T (p.Thr20=)
|
rs1163686601
|
|
|
NM_012434.5(SLC17A5):c.613+11A>G
|
|
|
|
NM_012434.5(SLC17A5):c.613+12A>G
|
|
|
|
NM_012434.5(SLC17A5):c.613+14T>C
|
|
|
|
NM_012434.5(SLC17A5):c.613+19A>T
|
|
|
|
NM_012434.5(SLC17A5):c.613+1G>A
|
rs1769124033
|
|
|
NM_012434.5(SLC17A5):c.613+2T>A
|
rs1554164078
|
|
|
NM_012434.5(SLC17A5):c.614-13T>C
|
|
|
|
NM_012434.5(SLC17A5):c.614-14dup
|
|
|
|
NM_012434.5(SLC17A5):c.614-1G>A
|
rs1554163958
|
|
|
NM_012434.5(SLC17A5):c.614-7_614-5del
|
|
|
|
NM_012434.5(SLC17A5):c.614-8T>C
|
|
|
|
NM_012434.5(SLC17A5):c.614-9T>C
|
rs2150113641
|
|
|
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter)
|
rs1769021763
|
|
|
NM_012434.5(SLC17A5):c.627G>A (p.Gly209=)
|
|
|
|
NM_012434.5(SLC17A5):c.627G>T (p.Gly209=)
|
|
|
|
NM_012434.5(SLC17A5):c.63T>G (p.Pro21=)
|
rs2150128022
|
|
|
NM_012434.5(SLC17A5):c.642T>C (p.Leu214=)
|
rs2150113603
|
|
|
NM_012434.5(SLC17A5):c.663C>T (p.Cys221=)
|
|
|
|
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
|
|
|
|
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser)
|
rs2150113556
|
|
|
NM_012434.5(SLC17A5):c.681T>C (p.Thr227=)
|
rs2150113553
|
|
|
NM_012434.5(SLC17A5):c.683_698del (p.Tyr228fs)
|
|
|
|
NM_012434.5(SLC17A5):c.684T>C (p.Tyr228=)
|
rs1554163945
|
|
|
NM_012434.5(SLC17A5):c.684T>G (p.Tyr228Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.693C>A (p.Tyr231Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
|
rs1057516862
|
|
|
NM_012434.5(SLC17A5):c.699del (p.Phe233fs)
|
rs779548058
|
|
|
NM_012434.5(SLC17A5):c.699dup (p.Gly234fs)
|
|
|
|
NM_012434.5(SLC17A5):c.700+12A>T
|
|
|
|
NM_012434.5(SLC17A5):c.700+2T>C
|
rs1440688652
|
|
|
NM_012434.5(SLC17A5):c.700+8T>A
|
|
|
|
NM_012434.5(SLC17A5):c.701-14T>C
|
|
|
|
NM_012434.5(SLC17A5):c.701-16A>G
|
|
|
|
NM_012434.5(SLC17A5):c.701-19_701-18del
|
|
|
|
NM_012434.5(SLC17A5):c.701-1G>A
|
|
|
|
NM_012434.5(SLC17A5):c.701-22_701-19del
|
rs1561997520
|
|
|
NM_012434.5(SLC17A5):c.701-7T>C
|
|
|
|
NM_012434.5(SLC17A5):c.701-8A>G
|
|
|
|
NM_012434.5(SLC17A5):c.711A>G (p.Gly237=)
|
|
|
|
NM_012434.5(SLC17A5):c.718dup (p.Trp240fs)
|
rs1554163878
|
|
|
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)
|
rs386833993
|
|
|
NM_012434.5(SLC17A5):c.727T>C (p.Leu243=)
|
rs2150112400
|
|
|
NM_012434.5(SLC17A5):c.729G>A (p.Leu243=)
|
rs1207694346
|
|
|
NM_012434.5(SLC17A5):c.735dup (p.Trp246fs)
|
|
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
|
NM_012434.5(SLC17A5):c.744_747del (p.Ser249fs)
|
rs753141230
|
|
|
NM_012434.5(SLC17A5):c.757C>T (p.Gln253Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
|
|
|
|
NM_012434.5(SLC17A5):c.75C>A (p.Gly25=)
|
|
|
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
|
|
|
NM_012434.5(SLC17A5):c.768G>A (p.Lys256=)
|
|
|
|
NM_012434.5(SLC17A5):c.771A>G (p.Arg257=)
|
|
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
|
NM_012434.5(SLC17A5):c.780T>C (p.His260=)
|
|
|
|
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)
|
rs1768948534
|
|
|
NM_012434.5(SLC17A5):c.790G>T (p.Glu264Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.792A>G (p.Glu264=)
|
|
|
|
NM_012434.5(SLC17A5):c.795C>T (p.Tyr265=)
|
|
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
|
NM_012434.5(SLC17A5):c.804A>T (p.Ser268=)
|
rs750559102
|
|
|
NM_012434.5(SLC17A5):c.809T>A (p.Leu270Ter)
|
rs1768947396
|
|
|
NM_012434.5(SLC17A5):c.813A>G (p.Arg271=)
|
|
|
|
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg)
|
rs761959120
|
|
|
NM_012434.5(SLC17A5):c.819+1G>A
|
rs1057517028
|
|
|
NM_012434.5(SLC17A5):c.819+7A>C
|
rs2150112286
|
|
|
NM_012434.5(SLC17A5):c.820-16T>C
|
|
|
|
NM_012434.5(SLC17A5):c.820-17A>G
|
|
|
|
NM_012434.5(SLC17A5):c.820-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.820-2A>C
|
rs1554162842
|
|
|
NM_012434.5(SLC17A5):c.825T>C (p.Ser275=)
|
rs2150099476
|
|
|
NM_012434.5(SLC17A5):c.825T>G (p.Ser275=)
|
rs2150099476
|
|
|
NM_012434.5(SLC17A5):c.828A>C (p.Ser276=)
|
|
|
|
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter)
|
rs1768174708
|
|
|
NM_012434.5(SLC17A5):c.82C>A (p.Arg28=)
|
|
|
|
NM_012434.5(SLC17A5):c.837A>G (p.Ser279=)
|
rs2150099452
|
|
|
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)
|
rs1554162837
|
|
|
NM_012434.5(SLC17A5):c.843G>T (p.Pro281=)
|
rs567868125
|
|
|
NM_012434.5(SLC17A5):c.846_849del (p.Trp282fs)
|
|
|
|
NM_012434.5(SLC17A5):c.849A>T (p.Val283=)
|
rs1561992699
|
|
|
NM_012434.5(SLC17A5):c.857T>A (p.Leu286Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.860_863dup (p.Leu289fs)
|
rs2150099393
|
|
|
NM_012434.5(SLC17A5):c.864C>A (p.Ser288=)
|
rs1392111099
|
|
|
NM_012434.5(SLC17A5):c.864C>G (p.Ser288=)
|
rs1392111099
|
|
|
NM_012434.5(SLC17A5):c.867G>A (p.Leu289=)
|
|
|
|
NM_012434.5(SLC17A5):c.873T>C (p.Leu291=)
|
rs746795819
|
|
|
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)
|
|
|
|
NM_012434.5(SLC17A5):c.882C>T (p.Ile294=)
|
rs1768170111
|
|
|
NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.905del (p.Asn302fs)
|
rs771156053
|
|
|
NM_012434.5(SLC17A5):c.908G>A (p.Trp303Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.909G>A (p.Trp303Ter)
|
rs1057516601
|
|
|
NM_012434.5(SLC17A5):c.915_916del (p.Phe305fs)
|
|
|
|
NM_012434.5(SLC17A5):c.916del (p.Tyr306fs)
|
|
|
|
NM_012434.5(SLC17A5):c.923T>G (p.Leu308Ter)
|
rs766036082
|
|
|
NM_012434.5(SLC17A5):c.924A>G (p.Leu308=)
|
rs2150099285
|
|
|
NM_012434.5(SLC17A5):c.927G>A (p.Leu309=)
|
|
|
|
NM_012434.5(SLC17A5):c.933A>G (p.Leu311=)
|
|
|
|
NM_012434.5(SLC17A5):c.94+12G>T
|
|
|
|
NM_012434.5(SLC17A5):c.94+13G>A
|
|
|
|
NM_012434.5(SLC17A5):c.94+13del
|
|
|
|
NM_012434.5(SLC17A5):c.94+15C>A
|
|
|
|
NM_012434.5(SLC17A5):c.94+1G>A
|
|
|
|
NM_012434.5(SLC17A5):c.94+2T>A
|
rs1769984400
|
|
|
NM_012434.5(SLC17A5):c.94+7G>A
|
rs1221669032
|
|
|
NM_012434.5(SLC17A5):c.94+7G>C
|
|
|
|
NM_012434.5(SLC17A5):c.94+9C>A
|
|
|
|
NM_012434.5(SLC17A5):c.945T>C (p.Tyr315=)
|
rs2150099250
|
|
|
NM_012434.5(SLC17A5):c.95-13A>T
|
|
|
|
NM_012434.5(SLC17A5):c.95-19T>C
|
|
|
|
NM_012434.5(SLC17A5):c.95-19del
|
|
|
|
NM_012434.5(SLC17A5):c.95-1G>A
|
|
|
|
NM_012434.5(SLC17A5):c.95-20T>G
|
|
|
|
NM_012434.5(SLC17A5):c.95-37_95-20del
|
rs771211311
|
|
|
NM_012434.5(SLC17A5):c.952G>T (p.Glu318Ter)
|
|
|
|
NM_012434.5(SLC17A5):c.954G>A (p.Glu318=)
|
|
|
|
NM_012434.5(SLC17A5):c.964_976del (p.Phe322fs)
|
rs2150099225
|
|
|
NM_012434.5(SLC17A5):c.96T>A (p.Ala32=)
|
|
|
|
NM_012434.5(SLC17A5):c.972T>C (p.Val324=)
|
|
|
|
NM_012434.5(SLC17A5):c.976G>T (p.Glu326Ter)
|
rs745386414
|
|
|
NM_012434.5(SLC17A5):c.978+11dup
|
rs2150099214
|
|
|
NM_012434.5(SLC17A5):c.978+13_978+15del
|
|
|
|
NM_012434.5(SLC17A5):c.978+16C>T
|
|
|
|
NM_012434.5(SLC17A5):c.978+17_978+19del
|
|
|
|
NM_012434.5(SLC17A5):c.978+18T>A
|
|
|
|
NM_012434.5(SLC17A5):c.978+1G>A
|
rs2150099218
|
|
|
NM_012434.5(SLC17A5):c.979-10T>C
|
|
|
|
NM_012434.5(SLC17A5):c.979-11A>G
|
|
|
|
NM_012434.5(SLC17A5):c.979-12T>C
|
|
|
|
NM_012434.5(SLC17A5):c.979-1G>T
|
|
|
|
NM_012434.5(SLC17A5):c.979-2A>G
|
rs1554162230
|
|
|
NM_012434.5(SLC17A5):c.979-7C>T
|
rs1247597551
|
|
|
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
|
rs386833996
|
|
|
NM_012434.5(SLC17A5):c.992_995delinsAT (p.Ser331fs)
|
|
|
|
NM_012434.5(SLC17A5):c.994del (p.Ser332fs)
|
|
|
|
NM_012434.5(SLC17A5):c.998del (p.Leu333fs)
|
rs779494716
|
|
|
NM_012434.5(SLC17A5):c.999G>A (p.Leu333=)
|
rs1561989819
|
|
|
NM_012434.5(SLC17A5):c.9T>A (p.Ser3=)
|
|
|
|
NM_012434.5(SLC17A5):c.9T>C (p.Ser3=)
|
|
|
|
NM_013276.4(SHPK):c.211G>T (p.Glu71Ter)
|
rs748544120
|
|
|
NM_013276.4(SHPK):c.495-19dup
|
rs140922564
|
|
|
NM_013995.2(LAMP2):c.-168dup
|
rs760941179
|
|
|
NM_014026.6(DCPS):c.201+2T>C
|
rs1057519083
|
|
|
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu)
|
rs140377449
|
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
|
NM_014026.6(DCPS):c.918G>C (p.Glu306Asp)
|
rs1215363009
|
|
|
NM_014168.4(METTL5):c.224+1G>A
|
|
|
|
NM_014168.4(METTL5):c.344_345del (p.Arg115fs)
|
rs1573972562
|
|
|
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
|
|
|
|
NM_014168.4(METTL5):c.406+5G>A
|
rs2105721464
|
|
|
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)
|
rs1247557050
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
|
NM_014168.4(METTL5):c.571_572del (p.Lys191fs)
|
rs1573965358
|
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
|
NM_014226.3(MOK):c.630_631dup (p.Ile211fs)
|
rs769431982
|
|
|
NM_014415.4(ZBTB11):c.154C>T (p.Arg52Trp)
|
|
|
|
NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)
|
|
|
|
NM_014415.4(ZBTB11):c.2185C>T (p.His729Tyr)
|
rs1559982532
|
|
|
NM_014415.4(ZBTB11):c.2640T>G (p.His880Gln)
|
rs1559981249
|
|
|
NM_014415.4(ZBTB11):c.2668A>G (p.Thr890Ala)
|
|
|
|
NM_014415.4(ZBTB11):c.2734C>T (p.Arg912Trp)
|
|
|
|
NM_014415.4(ZBTB11):c.2779C>T (p.Arg927Ter)
|
|
|
|
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe)
|
rs1436155983
|
|
|
NM_014415.4(ZBTB11):c.85_97del (p.Val29fs)
|
|
|
|
NM_014415.4(ZBTB11):c.907A>T (p.Ile303Phe)
|
|
|
|
NM_014704.4(CEP104):c.1901dup (p.Leu634fs)
|
rs1411591918
|
|
|
NM_014704.4(CEP104):c.2356_2357insTT (p.Cys786fs)
|
rs2124647615
|
|
|
NM_014704.4(CEP104):c.643C>T (p.Arg215Ter)
|
rs759675006
|
|
|
NM_014806.5(RUSC2):c.1525G>C (p.Val509Leu)
|
|
|
|
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
|
|
|
|
NM_014806.5(RUSC2):c.2596C>T (p.Arg866Ter)
|
rs1402086660
|
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
|
NM_014806.5(RUSC2):c.3720GGAAGA[1] (p.Glu1245_Glu1246del)
|
rs145749994
|
|
|
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile)
|
rs762004622
|
|
|
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys)
|
rs1563876680
|
|
|
NM_014806.5(RUSC2):c.3952C>T (p.Arg1318Ter)
|
rs1554645052
|
|
|
NM_014806.5(RUSC2):c.567C>A (p.His189Gln)
|
rs1030373633
|
|
|
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr)
|
rs1821748484
|
|
|
NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)
|
|
|
|
NM_015028.4(TNIK):c.2724G>T (p.Thr908=)
|
rs377530882
|
|
|
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)
|
rs35090763
|
|
|
NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln)
|
rs1340420482
|
|
|
NM_015028.4(TNIK):c.538C>T (p.Arg180Ter)
|
rs886037841
|
|
|
NM_015275.3(WASHC4):c.1038+1G>T
|
rs1881282106
|
|
|
NM_015275.3(WASHC4):c.1324C>T (p.Gln442Ter)
|
rs2135773055
|
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
|
NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)
|
|
|
|
NM_015275.3(WASHC4):c.1731del (p.Pro579fs)
|
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
|
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys)
|
rs768574664
|
|
|
NM_015275.3(WASHC4):c.3056C>G (p.Pro1019Arg)
|
rs587777411
|
|
|
NM_015275.3(WASHC4):c.3143A>G (p.Asp1048Gly)
|
rs1212552985
|
|
|
NM_015275.3(WASHC4):c.3420G>A (p.Ala1140=)
|
|
|
|
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser)
|
rs1881275367
|
|
|
NM_015957.4(APIP):c.-14C>T
|
rs886048245
|
|
|
NM_015957.4(APIP):c.-53C>T
|
rs2956113
|
|
|
NM_015957.4(APIP):c.57+57C>G
|
rs988171497
|
|
|
NM_015957.4(APIP):c.57+78A>G
|
rs2016814
|
|
|
NM_015957.4(APIP):c.57+91G>T
|
rs561463212
|
|
|
NM_015981.4(CAMK2A):c.1429C>T (p.His477Tyr)
|
rs1554119274
|
|
|
NM_015981.4(CAMK2A):c.1467-87A>T
|
rs17712679
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
|
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)
|
rs2150279471
|
|
|
NM_016042.4(EXOSC3):c.*118G>T
|
rs1059059
|
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
|
NM_016042.4(EXOSC3):c.100C>T (p.Leu34=)
|
|
|
|
NM_016042.4(EXOSC3):c.105C>T (p.Leu35=)
|
|
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
|
NM_016042.4(EXOSC3):c.126G>T (p.Ala42=)
|
|
|
|
NM_016042.4(EXOSC3):c.129del (p.Gly44fs)
|
|
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
|
NM_016042.4(EXOSC3):c.150G>A (p.Glu50=)
|
|
|
|
NM_016042.4(EXOSC3):c.151C>T (p.Arg51Ter)
|
|
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
|
NM_016042.4(EXOSC3):c.156G>A (p.Pro52=)
|
|
|
|
NM_016042.4(EXOSC3):c.15G>T (p.Ala5=)
|
|
|
|
NM_016042.4(EXOSC3):c.167_174del (p.Asn56fs)
|
|
|
|
NM_016042.4(EXOSC3):c.171T>C (p.Ala57=)
|
rs1589061382
|
|
|
NM_016042.4(EXOSC3):c.174_183del (p.Arg58fs)
|
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
|
NM_016042.4(EXOSC3):c.180del (p.Ser61fs)
|
|
|
|
NM_016042.4(EXOSC3):c.1A>G (p.Met1Val)
|
|
|
|
NM_016042.4(EXOSC3):c.1A>T (p.Met1Leu)
|
|
|
|
NM_016042.4(EXOSC3):c.201C>T (p.Cys67=)
|
|
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
|
|
|
NM_016042.4(EXOSC3):c.21C>A (p.Val7=)
|
|
|
|
NM_016042.4(EXOSC3):c.21C>G (p.Val7=)
|
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
|
NM_016042.4(EXOSC3):c.231C>T (p.Arg77=)
|
|
|
|
NM_016042.4(EXOSC3):c.234G>C (p.Leu78=)
|
|
|
|
NM_016042.4(EXOSC3):c.234G>T (p.Leu78=)
|
|
|
|
NM_016042.4(EXOSC3):c.240C>T (p.Val80=)
|
|
|
|
NM_016042.4(EXOSC3):c.246G>A (p.Lys82=)
|
|
|
|
NM_016042.4(EXOSC3):c.249C>T (p.Cys83=)
|
|
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
|
NM_016042.4(EXOSC3):c.258C>T (p.Leu86=)
|
|
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
|
NM_016042.4(EXOSC3):c.261T>A (p.Arg87=)
|
rs1294998925
|
|
|
NM_016042.4(EXOSC3):c.264C>T (p.His88=)
|
|
|
|
NM_016042.4(EXOSC3):c.276C>T (p.Gly92=)
|
|
|
|
NM_016042.4(EXOSC3):c.279T>C (p.Ser93=)
|
|
|
|
NM_016042.4(EXOSC3):c.27T>C (p.Ala9=)
|
|
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
|
NM_016042.4(EXOSC3):c.288C>T (p.Gly96=)
|
|
|
|
NM_016042.4(EXOSC3):c.294_303del (p.Val99fs)
|
rs672601331
|
|
|
NM_016042.4(EXOSC3):c.297_298insG (p.Tyr100fs)
|
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.300C>T (p.Tyr100=)
|
|
|
|
NM_016042.4(EXOSC3):c.301del (p.Trp101fs)
|
|
|
|
NM_016042.4(EXOSC3):c.309C>T (p.Asp103=)
|
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
|
NM_016042.4(EXOSC3):c.321G>A (p.Lys107=)
|
|
|
|
NM_016042.4(EXOSC3):c.324+9G>T
|
|
|
|
NM_016042.4(EXOSC3):c.325-10C>G
|
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
|
NM_016042.4(EXOSC3):c.325-20C>T
|
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
|
NM_016042.4(EXOSC3):c.366A>C (p.Thr122=)
|
|
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
|
NM_016042.4(EXOSC3):c.36C>T (p.Leu12=)
|
|
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
|
NM_016042.4(EXOSC3):c.382dup (p.Ile128fs)
|
rs2118980242
|
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
|
NM_016042.4(EXOSC3):c.396T>C (p.Asp132=)
|
|
|
|
NM_016042.4(EXOSC3):c.3G>A (p.Met1Ile)
|
|
|
|
NM_016042.4(EXOSC3):c.3G>T (p.Met1Ile)
|
rs1198691735
|
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
|
NM_016042.4(EXOSC3):c.404_407del (p.Gly135fs)
|
rs2118980158
|
|
|
NM_016042.4(EXOSC3):c.414A>G (p.Pro138=)
|
|
|
|
NM_016042.4(EXOSC3):c.417T>C (p.Ala139=)
|
|
|
|
NM_016042.4(EXOSC3):c.421T>C (p.Leu141=)
|
|
|
|
NM_016042.4(EXOSC3):c.422del (p.Leu141fs)
|
|
|
|
NM_016042.4(EXOSC3):c.423G>A (p.Leu141=)
|
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
|
NM_016042.4(EXOSC3):c.429C>T (p.Tyr143=)
|
|
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
|
NM_016042.4(EXOSC3):c.441A>G (p.Glu147=)
|
|
|
|
NM_016042.4(EXOSC3):c.444T>C (p.Gly148=)
|
|
|
|
NM_016042.4(EXOSC3):c.46A>C (p.Arg16=)
|
|
|
|
NM_016042.4(EXOSC3):c.474+11G>C
|
|
|
|
NM_016042.4(EXOSC3):c.474+11del
|
|
|
|
NM_016042.4(EXOSC3):c.474+13G>A
|
|
|
|
NM_016042.4(EXOSC3):c.474+14C>T
|
|
|
|
NM_016042.4(EXOSC3):c.474+15C>T
|
|
|
|
NM_016042.4(EXOSC3):c.474+16T>C
|
|
|
|
NM_016042.4(EXOSC3):c.474+8C>T
|
|
|
|
NM_016042.4(EXOSC3):c.474+9G>A
|
|
|
|
NM_016042.4(EXOSC3):c.475-15T>A
|
|
|
|
NM_016042.4(EXOSC3):c.475-6T>C
|
|
|
|
NM_016042.4(EXOSC3):c.475-8_475-6del
|
|
|
|
NM_016042.4(EXOSC3):c.475-8del
|
|
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.51G>C (p.Ala17=)
|
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
|
NM_016042.4(EXOSC3):c.531G>A (p.Glu177=)
|
|
|
|
NM_016042.4(EXOSC3):c.537C>T (p.Val179=)
|
|
|
|
NM_016042.4(EXOSC3):c.546C>T (p.Asp182=)
|
|
|
|
NM_016042.4(EXOSC3):c.551del (p.Cys184fs)
|
|
|
|
NM_016042.4(EXOSC3):c.555A>G (p.Gly185=)
|
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
|
NM_016042.4(EXOSC3):c.571G>T (p.Gly191Cys)
|
rs730882145
|
|
|
NM_016042.4(EXOSC3):c.579T>C (p.Ile193=)
|
|
|
|
NM_016042.4(EXOSC3):c.57T>C (p.Ala19=)
|
|
|
|
NM_016042.4(EXOSC3):c.582A>G (p.Gly194=)
|
|
|
|
NM_016042.4(EXOSC3):c.591T>G (p.Gly197=)
|
rs753935327
|
|
|
NM_016042.4(EXOSC3):c.592C>T (p.Leu198=)
|
|
|
|
NM_016042.4(EXOSC3):c.594G>A (p.Leu198=)
|
|
|
|
NM_016042.4(EXOSC3):c.594G>C (p.Leu198=)
|
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
|
NM_016042.4(EXOSC3):c.60A>G (p.Ala20=)
|
|
|
|
NM_016042.4(EXOSC3):c.615C>T (p.Gly205=)
|
|
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.626+11A>G
|
|
|
|
NM_016042.4(EXOSC3):c.626+15C>G
|
|
|
|
NM_016042.4(EXOSC3):c.627-12_627-8del
|
rs778480656
|
|
|
NM_016042.4(EXOSC3):c.627-16_627-12del
|
|
|
|
NM_016042.4(EXOSC3):c.627-18C>A
|
|
|
|
NM_016042.4(EXOSC3):c.630A>G (p.Leu210=)
|
|
|
|
NM_016042.4(EXOSC3):c.63C>G (p.Arg21=)
|
|
|
|
NM_016042.4(EXOSC3):c.63C>T (p.Arg21=)
|
|
|
|
NM_016042.4(EXOSC3):c.642T>C (p.Asp214=)
|
|
|
|
NM_016042.4(EXOSC3):c.663G>A (p.Val221=)
|
|
|
|
NM_016042.4(EXOSC3):c.66A>C (p.Thr22=)
|
|
|
|
NM_016042.4(EXOSC3):c.66A>G (p.Thr22=)
|
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
|
NM_016042.4(EXOSC3):c.675T>C (p.Tyr225=)
|
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
|
NM_016042.4(EXOSC3):c.684G>A (p.Glu228=)
|
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
|
NM_016042.4(EXOSC3):c.69A>G (p.Val23=)
|
|
|
|
NM_016042.4(EXOSC3):c.6C>A (p.Ala2=)
|
|
|
|
NM_016042.4(EXOSC3):c.6C>G (p.Ala2=)
|
|
|
|
NM_016042.4(EXOSC3):c.6C>T (p.Ala2=)
|
|
|
|
NM_016042.4(EXOSC3):c.702T>C (p.Asn234=)
|
|
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
|
NM_016042.4(EXOSC3):c.70C>T (p.Leu24=)
|
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
|
NM_016042.4(EXOSC3):c.714G>A (p.Trp238Ter)
|
|
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
|
NM_016042.4(EXOSC3):c.741T>C (p.Thr247=)
|
|
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
|
NM_016042.4(EXOSC3):c.753A>C (p.Ala251=)
|
|
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
|
NM_016042.4(EXOSC3):c.804C>T (p.Ile268=)
|
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
|
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
|
|
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
|
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
|
|
|
|
NM_016042.4(EXOSC3):c.816G>A (p.Leu272=)
|
|
|
|
NM_016042.4(EXOSC3):c.81G>C (p.Val27=)
|
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
|
NM_016042.4(EXOSC3):c.825T>C (p.Ser275=)
|
|
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
|
NM_016100.5(NAA20):c.239C>T (p.Ala80Val)
|
rs768029717
|
|
|
NM_016203.3(PRKAG2):c.-517G>T
|
rs886062107
|
|
|
NM_016203.3(PRKAG2):c.-575C>T
|
rs886062108
|
|
|
NM_016203.3(PRKAG2):c.-580C>T
|
rs886062109
|
|
|
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA
|
rs1584964948
|
|
|
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT
|
rs886062094
|
|
|
NM_016203.4(PRKAG2):c.*1021del
|
rs11329945
|
|
|
NM_016203.4(PRKAG2):c.*1029dup
|
rs1554444891
|
|
|
NM_016203.4(PRKAG2):c.*1040del
|
rs56898021
|
|
|
NM_016203.4(PRKAG2):c.*1040dup
|
rs56898021
|
|
|
NM_016203.4(PRKAG2):c.*1041dup
|
rs886062093
|
|
|
NM_016203.4(PRKAG2):c.*350C>A
|
rs886062099
|
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
|
NM_016203.4(PRKAG2):c.-274C>A
|
rs886062104
|
|
|
NM_016203.4(PRKAG2):c.-351G>A
|
rs886062105
|
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
|
NM_016203.4(PRKAG2):c.1005+12C>A
|
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>C
|
|
|
|
NM_016203.4(PRKAG2):c.1005+13A>T
|
|
|
|
NM_016203.4(PRKAG2):c.1005+20A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1005+6T>C
|
rs1554464077
|
|
|
NM_016203.4(PRKAG2):c.1005+8G>C
|
rs1245068890
|
|
|
NM_016203.4(PRKAG2):c.1006-13_1006-9dup
|
|
|
|
NM_016203.4(PRKAG2):c.1006-19A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1006-4G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1006-9del
|
rs775574266
|
|
|
NM_016203.4(PRKAG2):c.1006-9dup
|
rs775574266
|
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
|
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu)
|
rs727504707
|
|
|
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala)
|
rs2151024166
|
|
|
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn)
|
rs1807867041
|
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
|
NM_016203.4(PRKAG2):c.102C>G (p.Arg34=)
|
rs1057522970
|
|
|
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)
|
rs2151024054
|
|
|
NM_016203.4(PRKAG2):c.1032T>C (p.His344=)
|
|
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
|
NM_016203.4(PRKAG2):c.1044A>C (p.Thr348=)
|
|
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
|
NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)
|
rs2151023937
|
|
|
NM_016203.4(PRKAG2):c.1051+10_1051+11del
|
|
|
|
NM_016203.4(PRKAG2):c.1051+11T>A
|
|
|
|
NM_016203.4(PRKAG2):c.1051+14G>T
|
|
|
|
NM_016203.4(PRKAG2):c.1051+17G>A
|
|
|
|
NM_016203.4(PRKAG2):c.1051+6C>G
|
|
|
|
NM_016203.4(PRKAG2):c.1051_1051+2dup
|
rs2151023914
|
|
|
NM_016203.4(PRKAG2):c.1052-10A>G
|
rs1032360031
|
|
|
NM_016203.4(PRKAG2):c.1052-12C>T
|
|
|
|
NM_016203.4(PRKAG2):c.1052-4A>G
|
rs977597576
|
|
|
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
|
|
|
|
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys)
|
rs1554459431
|
|
|
NM_016203.4(PRKAG2):c.105G>T (p.Val35=)
|
|
|
|
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val)
|
rs1554459423
|
|
|
NM_016203.4(PRKAG2):c.1068A>G (p.Glu356=)
|
|
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
|
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
|
rs2080409943
|
|
|
NM_016203.4(PRKAG2):c.108C>T (p.His36=)
|
rs753210415
|
|
|
NM_016203.4(PRKAG2):c.1095T>C (p.Ser365=)
|
|
|
|
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
|
rs1807219152
|
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
|
NM_016203.4(PRKAG2):c.1106+10dup
|
rs374874465
|
|
|
NM_016203.4(PRKAG2):c.1106+14T>A
|
|
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
|
NM_016203.4(PRKAG2):c.1106+4A>C
|
rs912304170
|
|
|
NM_016203.4(PRKAG2):c.1106+9G>A
|
rs200429988
|
|
|
NM_016203.4(PRKAG2):c.1106+9G>T
|
rs200429988
|
|
|
NM_016203.4(PRKAG2):c.1106+9_1106+11del
|
rs759705299
|
|
|
NM_016203.4(PRKAG2):c.1107-10TC[4]
|
|
|
|
NM_016203.4(PRKAG2):c.1107-12del
|
|
|
|
NM_016203.4(PRKAG2):c.1107-14G>C
|
rs201150309
|
|
|
NM_016203.4(PRKAG2):c.1107-17A>G
|
|
|
|
NM_016203.4(PRKAG2):c.1107-18T>C
|
rs1563152454
|
|
|
NM_016203.4(PRKAG2):c.1107-3C>T
|
rs2151008803
|
|
|
NM_016203.4(PRKAG2):c.1107-9C>T
|
rs1806877306
|
|
|
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.1113C>T (p.Phe371=)
|
rs1806873615
|
|
|
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)
|
rs760826751
|
|
|
NM_016203.4(PRKAG2):c.111T>C (p.Ile37=)
|
rs144426409
|
|
|
NM_016203.4(PRKAG2):c.1128C>T (p.Ser376=)
|
|
|
|
NM_016203.4(PRKAG2):c.114+13034A>T
|
|
|
|
NM_016203.4(PRKAG2):c.114+14C>G
|
|
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
|
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)
|
rs121908988
|
|
|
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)
|
rs397517261
|
|
|
NM_016203.4(PRKAG2):c.115-18G>A
|
|
|
|
NM_016203.4(PRKAG2):c.115-20G>A
|
|
|
|
NM_016203.4(PRKAG2):c.115-9C>T
|
|
|
|
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr)
|
rs730882148
|
|
|
NM_016203.4(PRKAG2):c.1158C>T (p.Pro386=)
|
rs747247488
|
|
|
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
|
|
|
|
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu)
|
rs2151008453
|
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
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NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
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rs1806859703
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NM_016203.4(PRKAG2):c.1197T>C (p.Leu399=)
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NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala)
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rs1554457901
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NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
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NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)
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rs2151920498
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NM_016203.4(PRKAG2):c.1200C>G (p.Thr400=)
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NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp)
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rs878855017
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NM_016203.4(PRKAG2):c.1215C>T (p.Leu405=)
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rs1584956582
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NM_016203.4(PRKAG2):c.1233+14A>G
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NM_016203.4(PRKAG2):c.1233+16C>T
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rs1226861026
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NM_016203.4(PRKAG2):c.1233+17G>A
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rs372612064
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NM_016203.4(PRKAG2):c.1233+17G>T
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NM_016203.4(PRKAG2):c.1233+1G>C
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NM_016203.4(PRKAG2):c.1234-13A>G
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NM_016203.4(PRKAG2):c.1234-18C>T
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NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
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NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
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NM_016203.4(PRKAG2):c.1260C>T (p.Phe420=)
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NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
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rs1806121695
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NM_016203.4(PRKAG2):c.1281G>A (p.Glu427=)
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NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
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NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
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NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)
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rs2150996293
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NM_016203.4(PRKAG2):c.1296G>C (p.Thr432=)
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NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
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NM_016203.4(PRKAG2):c.1305C>T (p.Asn435=)
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NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
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NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)
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rs762111172
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NM_016203.4(PRKAG2):c.1311C>T (p.Ala437=)
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rs1258494294
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NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
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rs1806111411
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NM_016203.4(PRKAG2):c.1332C>T (p.Pro444=)
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NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)
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rs1344209675
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NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser)
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rs1554455087
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NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
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NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
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NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
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NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
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NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
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rs779098740
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NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala)
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rs1554455000
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NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
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rs878855018
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NM_016203.4(PRKAG2):c.1383T>G (p.Pro461=)
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NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu)
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rs2150995495
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NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
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NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
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NM_016203.4(PRKAG2):c.1399+18T>A
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NM_016203.4(PRKAG2):c.1399+8T>C
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rs750475269
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NM_016203.4(PRKAG2):c.1399+8T>G
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NM_016203.4(PRKAG2):c.1399+9G>A
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rs2150995396
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NM_016203.4(PRKAG2):c.1400-17A>G
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NM_016203.4(PRKAG2):c.1400-18T>C
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NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
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rs1806009426
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NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
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rs1806007620
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NM_016203.4(PRKAG2):c.1425A>G (p.Lys475=)
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NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
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rs1806004431
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NM_016203.4(PRKAG2):c.1437+11T>G
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NM_016203.4(PRKAG2):c.1437+17T>C
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rs780581700
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NM_016203.4(PRKAG2):c.1437+6T>C
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NM_016203.4(PRKAG2):c.1438-17C>A
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NM_016203.4(PRKAG2):c.1438-18T>C
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NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr)
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rs2150988951
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NM_016203.4(PRKAG2):c.1449T>C (p.Ala483=)
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rs148632949
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NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
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NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
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rs267606976
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NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
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NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
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rs1805709675
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NM_016203.4(PRKAG2):c.1464T>C (p.Asn488=)
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NM_016203.4(PRKAG2):c.1466del (p.Asn489fs)
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rs1584934953
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NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)
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rs730880981
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NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
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NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
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rs761196275
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NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
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NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr)
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rs1584934806
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NM_016203.4(PRKAG2):c.1509G>A (p.Gln503=)
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rs2150988654
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NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
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NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
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NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
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rs766113743
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NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
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rs766113743
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NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp)
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rs2150988575
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NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
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NM_016203.4(PRKAG2):c.154C>T (p.Leu52=)
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NM_016203.4(PRKAG2):c.1551G>A (p.Leu517=)
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NM_016203.4(PRKAG2):c.1554G>A (p.Glu518=)
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NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
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rs1060503024
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NM_016203.4(PRKAG2):c.1560C>T (p.Ile520=)
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rs376762359
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NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn)
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rs199985555
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NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)
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rs2150988481
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NM_016203.4(PRKAG2):c.156G>A (p.Leu52=)
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rs1169139558
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NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg)
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rs1563141020
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NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
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NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
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NM_016203.4(PRKAG2):c.1584+17A>G
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rs2150988377
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NM_016203.4(PRKAG2):c.1584+3G>A
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NM_016203.4(PRKAG2):c.1585-19C>G
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rs1057523714
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NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)
|
rs1563132006
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NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp)
|
rs1804721948
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NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)
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rs267606977
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NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)
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rs121908990
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NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
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rs121908991
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NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu)
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rs121908991
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NM_016203.4(PRKAG2):c.1594C>T (p.Leu532=)
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NM_016203.4(PRKAG2):c.1596G>C (p.Leu532=)
|
rs1804717541
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NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
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NM_016203.4(PRKAG2):c.1605A>G (p.Val535=)
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NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
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rs1804709862
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NM_016203.4(PRKAG2):c.1619G>A (p.Ser540Asn)
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NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
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NM_016203.4(PRKAG2):c.1629T>A (p.Gly543=)
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rs1258497596
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NM_016203.4(PRKAG2):c.162T>C (p.Gly54=)
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NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
|
rs1804703888
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NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
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NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
|
rs267606979
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NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
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NM_016203.4(PRKAG2):c.1642T>G (p.Ser548Ala)
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NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu)
|
rs1563131309
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NM_016203.4(PRKAG2):c.1651C>T (p.Leu551=)
|
rs2150971482
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NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)
|
rs1563131128
|
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NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
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NM_016203.4(PRKAG2):c.1668C>A (p.Leu556=)
|
rs1307794877
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NM_016203.4(PRKAG2):c.1678+11G>T
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NM_016203.4(PRKAG2):c.1678+16C>G
|
rs761012285
|
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NM_016203.4(PRKAG2):c.1678+18G>A
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NM_016203.4(PRKAG2):c.1678+18G>T
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NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
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NM_016203.4(PRKAG2):c.1679-12A>G
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NM_016203.4(PRKAG2):c.1679-14C>T
|
rs1803943848
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NM_016203.4(PRKAG2):c.1679-19A>G
|
rs200262620
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NM_016203.4(PRKAG2):c.1679-19A>T
|
rs200262620
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NM_016203.4(PRKAG2):c.1679-1G>A
|
rs1563120287
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NM_016203.4(PRKAG2):c.1679-7C>T
|
rs554184398
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NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
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NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
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NM_016203.4(PRKAG2):c.1698A>C (p.Thr566=)
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NM_016203.4(PRKAG2):c.1704G>C (p.Thr568=)
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NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
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NM_016203.4(PRKAG2):c.1707G>A (p.Glu569=)
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NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)
|
rs2150957786
|
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NM_016203.4(PRKAG2):c.171G>A (p.Lys57=)
|
rs2077016039
|
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NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
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NM_016203.4(PRKAG2):c.186+10C>T
|
rs759913875
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NM_016203.4(PRKAG2):c.186+20A>C
|
rs771538031
|
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NM_016203.4(PRKAG2):c.186+3A>G
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NM_016203.4(PRKAG2):c.186+4A>C
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NM_016203.4(PRKAG2):c.187-7dup
|
rs1304458769
|
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NM_016203.4(PRKAG2):c.187-8T>C
|
rs1220186527
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NM_016203.4(PRKAG2):c.187-9T>C
|
rs1269982225
|
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NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
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NM_016203.4(PRKAG2):c.189G>T (p.Val63=)
|
rs1216653645
|
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NM_016203.4(PRKAG2):c.192C>T (p.Asp64=)
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NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
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NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)
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|
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|
NM_016203.4(PRKAG2):c.204C>T (p.Gly68=)
|
rs761181432
|
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NM_016203.4(PRKAG2):c.207G>C (p.Pro69=)
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|
NM_016203.4(PRKAG2):c.207G>T (p.Pro69=)
|
rs144384573
|
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NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)
|
rs2151803809
|
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NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)
|
rs199963585
|
|
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NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
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NM_016203.4(PRKAG2):c.231C>T (p.Phe77=)
|
|
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|
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
|
|
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|
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
|
|
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|
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
|
|
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|
NM_016203.4(PRKAG2):c.240C>G (p.Gly80=)
|
rs142482217
|
|
|
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
|
rs368871685
|
|
|
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu)
|
rs757900380
|
|
|
NM_016203.4(PRKAG2):c.249C>T (p.Pro83=)
|
|
|
|
NM_016203.4(PRKAG2):c.24C>A (p.Thr8=)
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|
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|
NM_016203.4(PRKAG2):c.252G>C (p.Arg84=)
|
rs2076658352
|
|
|
NM_016203.4(PRKAG2):c.253C>A (p.Pro85Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
|
|
|
|
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.261C>T (p.Ser87=)
|
rs1377817526
|
|
|
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)
|
rs2076657636
|
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
|
NM_016203.4(PRKAG2):c.273A>T (p.Ala91=)
|
|
|
|
NM_016203.4(PRKAG2):c.27G>A (p.Lys9=)
|
|
|
|
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.291C>A (p.Thr97=)
|
|
|
|
NM_016203.4(PRKAG2):c.303T>C (p.Ser101=)
|
rs774628602
|
|
|
NM_016203.4(PRKAG2):c.310A>G (p.Thr104Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.321G>A (p.Pro107=)
|
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
|
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)
|
rs1060503025
|
|
|
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly)
|
rs1563659108
|
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
|
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
|
rs369471907
|
|
|
NM_016203.4(PRKAG2):c.351C>T (p.Ser117=)
|
rs1048504272
|
|
|
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser)
|
rs1554596200
|
|
|
NM_016203.4(PRKAG2):c.357A>G (p.Arg119=)
|
rs1586487326
|
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
|
rs775756069
|
|
|
NM_016203.4(PRKAG2):c.375G>A (p.Gly125=)
|
rs748041666
|
|
|
NM_016203.4(PRKAG2):c.381C>T (p.Phe127=)
|
|
|
|
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)
|
rs2151803284
|
|
|
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
|
|
|
|
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr)
|
rs748790230
|
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.396A>G (p.Lys132=)
|
|
|
|
NM_016203.4(PRKAG2):c.399G>A (p.Glu133=)
|
|
|
|
NM_016203.4(PRKAG2):c.402T>C (p.Ser134=)
|
|
|
|
NM_016203.4(PRKAG2):c.405C>T (p.Ser135=)
|
rs2151803247
|
|
|
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
|
rs1386603764
|
|
|
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser)
|
rs1042047141
|
|
|
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
|
rs2076650288
|
|
|
NM_016203.4(PRKAG2):c.435G>C (p.Gly145=)
|
rs1432408242
|
|
|
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)
|
rs1563775284
|
|
|
NM_016203.4(PRKAG2):c.441C>A (p.Ile147=)
|
|
|
|
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
|
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
|
NM_016203.4(PRKAG2):c.466+11G>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+19T>G
|
|
|
|
NM_016203.4(PRKAG2):c.466+1G>A
|
rs1563658309
|
|
|
NM_016203.4(PRKAG2):c.466+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.466+6A>G
|
rs2076648193
|
|
|
NM_016203.4(PRKAG2):c.466+8C>T
|
rs958349957
|
|
|
NM_016203.4(PRKAG2):c.467-10T>G
|
rs727503378
|
|
|
NM_016203.4(PRKAG2):c.467-16G>C
|
|
|
|
NM_016203.4(PRKAG2):c.467-19C>G
|
|
|
|
NM_016203.4(PRKAG2):c.467-2A>T
|
rs1554531076
|
|
|
NM_016203.4(PRKAG2):c.467-41_467-18del
|
|
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
|
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=)
|
rs141804012
|
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
|
NM_016203.4(PRKAG2):c.477C>T (p.Leu159=)
|
rs1585681762
|
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
|
NM_016203.4(PRKAG2):c.47G>C (p.Ser16Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
|
NM_016203.4(PRKAG2):c.492A>G (p.Ser164=)
|
|
|
|
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.501C>A (p.Thr167=)
|
|
|
|
NM_016203.4(PRKAG2):c.510C>G (p.Thr170=)
|
|
|
|
NM_016203.4(PRKAG2):c.510C>T (p.Thr170=)
|
rs1209179957
|
|
|
NM_016203.4(PRKAG2):c.516G>A (p.Gln172=)
|
rs1022959045
|
|
|
NM_016203.4(PRKAG2):c.51C>T (p.Pro17=)
|
|
|
|
NM_016203.4(PRKAG2):c.528C>G (p.Pro176=)
|
|
|
|
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
|
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
|
|
|
|
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln)
|
rs1131692281
|
|
|
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala)
|
rs545533727
|
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
|
rs772303730
|
|
|
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser)
|
rs2151477098
|
|
|
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)
|
rs202200501
|
|
|
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu)
|
rs551795395
|
|
|
NM_016203.4(PRKAG2):c.571A>G (p.Ile191Val)
|
rs528201736
|
|
|
NM_016203.4(PRKAG2):c.575A>G (p.Tyr192Cys)
|
|
|
|
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
|
rs2151477004
|
|
|
NM_016203.4(PRKAG2):c.585T>C (p.Ser195=)
|
|
|
|
NM_016203.4(PRKAG2):c.585T>G (p.Ser195=)
|
|
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
|
NM_016203.4(PRKAG2):c.591C>A (p.Pro197=)
|
rs587781126
|
|
|
NM_016203.4(PRKAG2):c.591C>G (p.Pro197=)
|
rs587781126
|
|
|
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
|
rs41317142
|
|
|
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
|
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
|
NM_016203.4(PRKAG2):c.600A>G (p.Thr200=)
|
|
|
|
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu)
|
rs1554530705
|
|
|
NM_016203.4(PRKAG2):c.609G>A (p.Arg203=)
|
rs2151476806
|
|
|
NM_016203.4(PRKAG2):c.612C>T (p.Phe204=)
|
rs2151476792
|
|
|
NM_016203.4(PRKAG2):c.618G>T (p.Pro206=)
|
rs145827515
|
|
|
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del)
|
rs2151476689
|
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
|
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
|
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
|
NM_016203.4(PRKAG2):c.660G>T (p.Pro220=)
|
rs774279454
|
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
|
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg)
|
rs1289045435
|
|
|
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
|
|
|
|
NM_016203.4(PRKAG2):c.66C>G (p.Gly22=)
|
rs730880971
|
|
|
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser)
|
rs2151476444
|
|
|
NM_016203.4(PRKAG2):c.684+10G>C
|
|
|
|
NM_016203.4(PRKAG2):c.684+14C>G
|
|
|
|
NM_016203.4(PRKAG2):c.684+19G>A
|
|
|
|
NM_016203.4(PRKAG2):c.684+1G>C
|
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[3]
|
|
|
|
NM_016203.4(PRKAG2):c.685-19TCC[5]
|
rs1265462032
|
|
|
NM_016203.4(PRKAG2):c.685-20_685-18dup
|
|
|
|
NM_016203.4(PRKAG2):c.685-3C>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-5C>T
|
rs779931367
|
|
|
NM_016203.4(PRKAG2):c.685-6C>A
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.685-6C>T
|
rs772481251
|
|
|
NM_016203.4(PRKAG2):c.685-8C>T
|
rs397517279
|
|
|
NM_016203.4(PRKAG2):c.685-9C>A
|
|
|
|
NM_016203.4(PRKAG2):c.685-9C>T
|
rs1824696243
|
|
|
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
|
|
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
|
NM_016203.4(PRKAG2):c.690G>T (p.Ala230=)
|
rs756008063
|
|
|
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)
|
rs931540862
|
|
|
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)
|
rs878855020
|
|
|
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)
|
rs1338523761
|
|
|
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
|
rs201240745
|
|
|
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
|
|
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
|
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.711C>G (p.Pro237=)
|
|
|
|
NM_016203.4(PRKAG2):c.714G>C (p.Ala238=)
|
|
|
|
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)
|
rs1271179381
|
|
|
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
|
|
|
|
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
|
rs1824657994
|
|
|
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)
|
rs752351250
|
|
|
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)
|
rs765544988
|
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
|
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
|
rs2151325092
|
|
|
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)
|
rs397517281
|
|
|
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
|
rs1824644597
|
|
|
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
|
|
|
|
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)
|
rs1585369730
|
|
|
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.754+10C>A
|
|
|
|
NM_016203.4(PRKAG2):c.754+10C>T
|
rs1162430810
|
|
|
NM_016203.4(PRKAG2):c.754+11C>T
|
|
|
|
NM_016203.4(PRKAG2):c.754+13dup
|
rs747490039
|
|
|
NM_016203.4(PRKAG2):c.754+17C>A
|
rs772286759
|
|
|
NM_016203.4(PRKAG2):c.754+17C>T
|
|
|
|
NM_016203.4(PRKAG2):c.754+18G>A
|
|
|
|
NM_016203.4(PRKAG2):c.754+19C>G
|
rs1824623715
|
|
|
NM_016203.4(PRKAG2):c.754+19_754+24del
|
rs1287642826
|
|
|
NM_016203.4(PRKAG2):c.755-10T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-19T>C
|
|
|
|
NM_016203.4(PRKAG2):c.755-7C>A
|
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.762A>G (p.Glu254=)
|
rs1158352901
|
|
|
NM_016203.4(PRKAG2):c.777T>C (p.Gly259=)
|
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
|
NM_016203.4(PRKAG2):c.780T>A (p.Val260=)
|
rs2151134876
|
|
|
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
|
|
|
|
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)
|
rs886062100
|
|
|
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_016203.4(PRKAG2):c.798G>A (p.Arg266=)
|
rs2151134700
|
|
|
NM_016203.4(PRKAG2):c.807G>A (p.Lys269=)
|
rs727504618
|
|
|
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=)
|
rs61752000
|
|
|
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter)
|
rs1814236823
|
|
|
NM_016203.4(PRKAG2):c.813T>C (p.Tyr271=)
|
|
|
|
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
|
|
|
|
NM_016203.4(PRKAG2):c.816C>T (p.Asp272=)
|
rs2151134561
|
|
|
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
|
rs1164114205
|
|
|
NM_016203.4(PRKAG2):c.846C>T (p.Val282=)
|
rs1563213791
|
|
|
NM_016203.4(PRKAG2):c.852T>C (p.Asp284=)
|
|
|
|
NM_016203.4(PRKAG2):c.858A>T (p.Thr286=)
|
rs763018098
|
|
|
NM_016203.4(PRKAG2):c.861A>G (p.Leu287=)
|
rs2151134396
|
|
|
NM_016203.4(PRKAG2):c.864+10C>G
|
rs1554480836
|
|
|
NM_016203.4(PRKAG2):c.864+10C>T
|
|
|
|
NM_016203.4(PRKAG2):c.864+19C>T
|
|
|
|
NM_016203.4(PRKAG2):c.864+20A>T
|
|
|
|
NM_016203.4(PRKAG2):c.865-14del
|
rs750383082
|
|
|
NM_016203.4(PRKAG2):c.865-7T>G
|
rs1433226385
|
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)
|
rs397517282
|
|
|
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile)
|
rs1808950153
|
|
|
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
|
|
|
|
NM_016203.4(PRKAG2):c.876C>G (p.Ala292=)
|
rs781760634
|
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
|
NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)
|
|
|
|
NM_016203.4(PRKAG2):c.87G>A (p.Lys29=)
|
rs2080410736
|
|
|
NM_016203.4(PRKAG2):c.885T>A (p.Ala295=)
|
rs1425474186
|
|
|
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)
|
rs730880976
|
|
|
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
|
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
|
|
|
|
NM_016203.4(PRKAG2):c.900T>A (p.Gly300=)
|
rs1334497430
|
|
|
NM_016203.4(PRKAG2):c.904C>A (p.Arg302=)
|
|
|
|
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro)
|
rs121908987
|
|
|
NM_016203.4(PRKAG2):c.909A>C (p.Ala303=)
|
rs2151043022
|
|
|
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
|
rs1808933429
|
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=)
|
rs145029525
|
|
|
NM_016203.4(PRKAG2):c.915A>C (p.Pro305=)
|
|
|
|
NM_016203.4(PRKAG2):c.915A>T (p.Pro305=)
|
rs998511488
|
|
|
NM_016203.4(PRKAG2):c.916C>T (p.Leu306=)
|
|
|
|
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
|
|
|
|
NM_016203.4(PRKAG2):c.924G>A (p.Glu308=)
|
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)
|
rs2151042865
|
|
|
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
|
|
|
|
NM_016203.4(PRKAG2):c.946+10G>A
|
|
|
|
NM_016203.4(PRKAG2):c.946+15C>T
|
|
|
|
NM_016203.4(PRKAG2):c.946+7A>G
|
rs2151042729
|
|
|
NM_016203.4(PRKAG2):c.946+8G>A
|
rs2151042715
|
|
|
NM_016203.4(PRKAG2):c.946+9T>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-11C>G
|
rs1808531347
|
|
|
NM_016203.4(PRKAG2):c.947-15A>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-18T>C
|
|
|
|
NM_016203.4(PRKAG2):c.947-19A>G
|
|
|
|
NM_016203.4(PRKAG2):c.947-19_947-18del
|
|
|
|
NM_016203.4(PRKAG2):c.947-22_947-6dup
|
rs1808529942
|
|
|
NM_016203.4(PRKAG2):c.947-7G>A
|
rs1554464198
|
|
|
NM_016203.4(PRKAG2):c.947-7G>C
|
|
|
|
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
|
|
|
|
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)
|
rs397517283
|
|
|
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)
|
rs730880977
|
|
|
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
|
|
|
|
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met)
|
rs1060503023
|
|
|
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)
|
|
|
|
NM_016203.4(PRKAG2):c.993T>C (p.Tyr331=)
|
rs397517284
|
|
|
NM_016203.4(PRKAG2):c.9C>T (p.Ser3=)
|
|
|
|
NM_016219.5(MAN1B1):c.*258C>T
|
rs755189897
|
|
|
NM_016219.5(MAN1B1):c.*470C>T
|
rs558804715
|
|
|
NM_016219.5(MAN1B1):c.*498G>C
|
rs886063734
|
|
|
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
|
|
|
|
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
|
|
|
|
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
|
|
|
|
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)
|
rs1038179177
|
|
|
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
|
|
|
|
NM_016219.5(MAN1B1):c.102T>C (p.Thr34=)
|
|
|
|
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
|
|
|
|
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn)
|
rs756197449
|
|
|
NM_016219.5(MAN1B1):c.1066-10C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1066-15C>G
|
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>G
|
|
|
|
NM_016219.5(MAN1B1):c.1066-18A>T
|
|
|
|
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
|
|
|
|
NM_016219.5(MAN1B1):c.1075G>T (p.Gly359Ter)
|
|
|
|
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
|
|
|
|
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
|
|
|
|
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
|
|
|
|
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=)
|
rs2131023045
|
|
|
NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)
|
rs538804415
|
|
|
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)
|
rs538804415
|
|
|
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1225T>C (p.Ser409Pro)
|
rs1158130828
|
|
|
NM_016219.5(MAN1B1):c.1228del (p.Arg410fs)
|
|
|
|
NM_016219.5(MAN1B1):c.1236_1237del (p.Gly413_Asp414insTer)
|
|
|
|
NM_016219.5(MAN1B1):c.1241del (p.Asp414fs)
|
|
|
|
NM_016219.5(MAN1B1):c.1254+13G>C
|
|
|
|
NM_016219.5(MAN1B1):c.1254+14C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1254+15T>C
|
|
|
|
NM_016219.5(MAN1B1):c.1254+9G>A
|
|
|
|
NM_016219.5(MAN1B1):c.1255-13C>G
|
|
|
|
NM_016219.5(MAN1B1):c.1255-13del
|
|
|
|
NM_016219.5(MAN1B1):c.1255-4G>A
|
rs201918928
|
|
|
NM_016219.5(MAN1B1):c.1255-9C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
|
|
|
|
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)
|
rs794729645
|
|
|
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=)
|
rs779030233
|
|
|
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
|
|
|
|
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu)
|
rs774769293
|
|
|
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
|
|
|
|
NM_016219.5(MAN1B1):c.1311del (p.Leu438fs)
|
rs747262065
|
|
|
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
|
|
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
|
|
|
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
|
|
|
|
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
|
|
|
|
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
|
|
|
|
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
|
|
|
|
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
|
|
|
|
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
|
|
|
|
NM_016219.5(MAN1B1):c.1397_1398del (p.Tyr465_Tyr466insTer)
|
|
|
|
NM_016219.5(MAN1B1):c.1418G>A (p.Trp473Ter)
|
rs1564311909
|
|
|
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
|
|
|
|
NM_016219.5(MAN1B1):c.1444C>T (p.Gln482Ter)
|
rs1831100789
|
|
|
NM_016219.5(MAN1B1):c.1445+15G>A
|
|
|
|
NM_016219.5(MAN1B1):c.1445+2_1445+5del
|
rs1831100970
|
|
|
NM_016219.5(MAN1B1):c.1445+31_1445+79dup
|
rs757502368
|
|
|
NM_016219.5(MAN1B1):c.1445+6G>T
|
|
|
|
NM_016219.5(MAN1B1):c.1445+9C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1446-10G>C
|
|
|
|
NM_016219.5(MAN1B1):c.1446-19T>C
|
|
|
|
NM_016219.5(MAN1B1):c.1446-4A>G
|
|
|
|
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
|
|
|
|
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
|
|
|
|
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
|
|
|
|
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln)
|
rs775259244
|
|
|
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
|
|
|
|
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
|
|
|
|
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
|
|
|
|
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=)
|
rs1168317937
|
|
|
NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.1566+11C>G
|
|
|
|
NM_016219.5(MAN1B1):c.1566+14C>A
|
|
|
|
NM_016219.5(MAN1B1):c.1566+15G>A
|
|
|
|
NM_016219.5(MAN1B1):c.1566+20C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1567-13C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1567-18G>A
|
|
|
|
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
|
|
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
|
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
|
|
|
|
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
|
|
|
|
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=)
|
rs886063730
|
|
|
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
|
|
|
|
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
|
|
|
|
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
|
|
|
|
NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys)
|
rs1017935955
|
|
|
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
|
|
|
|
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
|
|
|
|
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1764+14T>C
|
|
|
|
NM_016219.5(MAN1B1):c.1764+15G>A
|
rs2131131764
|
|
|
NM_016219.5(MAN1B1):c.1764+17G>A
|
|
|
|
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
|
|
|
|
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
|
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn)
|
rs929390325
|
|
|
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
|
|
|
|
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
|
|
|
|
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=)
|
rs886063731
|
|
|
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)
|
rs797045687
|
|
|
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.1896+16C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1896+17G>C
|
|
|
|
NM_016219.5(MAN1B1):c.1896+8C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1896+9C>T
|
|
|
|
NM_016219.5(MAN1B1):c.1897-5C>A
|
|
|
|
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=)
|
rs114484315
|
|
|
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
|
|
|
|
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=)
|
rs34355967
|
|
|
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=)
|
rs1244821111
|
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
|
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys)
|
rs371136351
|
|
|
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
|
|
|
|
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
|
|
|
|
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
|
|
|
|
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
|
|
|
|
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.219+13C>T
|
|
|
|
NM_016219.5(MAN1B1):c.219+16G>C
|
|
|
|
NM_016219.5(MAN1B1):c.219+1G>A
|
rs2130983856
|
|
|
NM_016219.5(MAN1B1):c.219+20G>A
|
|
|
|
NM_016219.5(MAN1B1):c.219+9C>A
|
|
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
|
NM_016219.5(MAN1B1):c.220-10C>T
|
|
|
|
NM_016219.5(MAN1B1):c.220-7C>G
|
|
|
|
NM_016219.5(MAN1B1):c.220-9C>T
|
|
|
|
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
|
|
|
|
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val)
|
rs1830422438
|
|
|
NM_016219.5(MAN1B1):c.242T>A (p.Leu81Ter)
|
rs2130986124
|
|
|
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
|
|
|
|
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
|
|
|
|
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.329-14C>T
|
|
|
|
NM_016219.5(MAN1B1):c.329-9G>C
|
|
|
|
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
|
|
|
|
NM_016219.5(MAN1B1):c.36C>G (p.Leu12=)
|
|
|
|
NM_016219.5(MAN1B1):c.36C>T (p.Leu12=)
|
|
|
|
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
|
|
|
|
NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)
|
|
|
|
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
|
|
|
|
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
|
|
|
|
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=)
|
rs199738190
|
|
|
NM_016219.5(MAN1B1):c.42C>T (p.Ser14=)
|
|
|
|
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=)
|
rs886063727
|
|
|
NM_016219.5(MAN1B1):c.465+1462_620+529del
|
|
|
|
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr)
|
rs2131002805
|
|
|
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
|
|
|
|
NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)
|
|
|
|
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
|
|
|
|
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
|
|
|
|
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val)
|
rs886063728
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
|
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly)
|
rs2131002949
|
|
|
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
|
|
|
|
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=)
|
rs1554752187
|
|
|
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu)
|
rs200410163
|
|
|
NM_016219.5(MAN1B1):c.620+10G>A
|
|
|
|
NM_016219.5(MAN1B1):c.620+10G>T
|
|
|
|
NM_016219.5(MAN1B1):c.620+12A>G
|
|
|
|
NM_016219.5(MAN1B1):c.620+20C>G
|
|
|
|
NM_016219.5(MAN1B1):c.621-14C>T
|
|
|
|
NM_016219.5(MAN1B1):c.621-2A>G
|
rs937318545
|
|
|
NM_016219.5(MAN1B1):c.621-4G>T
|
|
|
|
NM_016219.5(MAN1B1):c.624G>A (p.Trp208Ter)
|
|
|
|
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
|
|
|
|
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
|
|
|
|
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)
|
rs145554887
|
|
|
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
|
|
|
|
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=)
|
rs536127999
|
|
|
NM_016219.5(MAN1B1):c.730+13C>G
|
|
|
|
NM_016219.5(MAN1B1):c.730+16C>T
|
|
|
|
NM_016219.5(MAN1B1):c.730+5G>A
|
|
|
|
NM_016219.5(MAN1B1):c.730+8C>T
|
|
|
|
NM_016219.5(MAN1B1):c.731-16C>T
|
|
|
|
NM_016219.5(MAN1B1):c.731-17T>C
|
rs1164752378
|
|
|
NM_016219.5(MAN1B1):c.731-18CT[2]
|
|
|
|
NM_016219.5(MAN1B1):c.731-8C>A
|
rs375902720
|
|
|
NM_016219.5(MAN1B1):c.731-8C>T
|
rs375902720
|
|
|
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
|
|
|
|
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
|
|
|
|
NM_016219.5(MAN1B1):c.761_764del (p.Ile254fs)
|
rs1564281411
|
|
|
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
|
|
|
|
NM_016219.5(MAN1B1):c.772_775del (p.Leu258fs)
|
|
|
|
NM_016219.5(MAN1B1):c.78G>C (p.Gly26=)
|
|
|
|
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs)
|
rs1190243291
|
|
|
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
|
|
|
|
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
|
|
|
|
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
|
|
|
|
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
|
|
|
|
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
|
|
|
|
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
|
|
|
|
NM_016219.5(MAN1B1):c.916+10G>A
|
|
|
|
NM_016219.5(MAN1B1):c.916+14T>C
|
|
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
|
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)
|
|
|
|
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
|
|
|
|
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
|
|
|
|
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala)
|
rs546612497
|
|
|
NM_016219.5(MAN1B1):c.9C>G (p.Ala3=)
|
rs752045534
|
|
|
NM_016219.5(MAN1B1):c.9C>T (p.Ala3=)
|
|
|
|
NM_016286.4(DCXR):c.583del (p.His195fs)
|
rs747887427
|
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
|
NM_016302.4(CRBN):c.129dup (p.Pro44fs)
|
rs1707782133
|
|
|
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly)
|
rs137880766
|
|
|
NM_016302.4(CRBN):c.40A>T (p.Met14Leu)
|
rs753095651
|
|
|
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter)
|
rs1575094649
|
|
|
NM_016302.4(CRBN):c.835+1G>A
|
rs1226252969
|
|
|
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
|
|
|
|
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)
|
rs774357851
|
|
|
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
|
|
|
|
NM_017721.5(CC2D1A):c.1223-294_1642-220del
|
|
|
|
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
|
|
|
|
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met)
|
rs200445152
|
|
|
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=)
|
rs1971378002
|
|
|
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)
|
rs1971392241
|
|
|
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn)
|
rs1971475798
|
|
|
NM_017721.5(CC2D1A):c.1764+1G>C
|
rs2145350143
|
|
|
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])
|
rs1028125077
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
|
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
|
|
|
|
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
|
|
|
|
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs)
|
rs1423002835
|
|
|
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
|
|
|
|
NM_017721.5(CC2D1A):c.2711-2A>G
|
|
|
|
NM_017721.5(CC2D1A):c.2836-3C>A
|
|
|
|
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)
|
rs1568405628
|
|
|
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
|
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
|
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile)
|
rs781498477
|
|
|
NM_017755.6(NSUN2):c.*532A>G
|
rs1317432691
|
|
|
NM_017755.6(NSUN2):c.*619G>A
|
rs1018606113
|
|
|
NM_017755.6(NSUN2):c.*97C>A
|
rs759455426
|
|
|
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)
|
rs1579368865
|
|
|
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu)
|
rs1560975832
|
|
|
NM_017755.6(NSUN2):c.1114C>T (p.Gln372Ter)
|
rs387907191
|
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
|
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
|
|
|
|
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
|
|
|
|
NM_017755.6(NSUN2):c.138G>A (p.Lys46=)
|
rs886060729
|
|
|
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)
|
|
|
|
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
|
|
|
|
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala)
|
rs1736795903
|
|
|
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
|
|
|
|
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)
|
rs762288077
|
|
|
NM_017755.6(NSUN2):c.1818+4A>G
|
rs1736685253
|
|
|
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)
|
rs1403893283
|
|
|
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met)
|
rs139224594
|
|
|
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly)
|
rs747908747
|
|
|
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
|
|
|
|
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu)
|
rs1736492714
|
|
|
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
|
|
|
|
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser)
|
rs1736479408
|
|
|
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln)
|
rs61744358
|
|
|
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)
|
rs2126513553
|
|
|
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)
|
rs1579377990
|
|
|
NM_017755.6(NSUN2):c.538-11T>G
|
rs2126499522
|
|
|
NM_017755.6(NSUN2):c.538-1G>C
|
rs1560982564
|
|
|
NM_017755.6(NSUN2):c.604A>G (p.Met202Val)
|
rs1737468532
|
|
|
NM_017755.6(NSUN2):c.615C>A (p.Pro205=)
|
rs773951967
|
|
|
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)
|
rs387907190
|
|
|
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys)
|
rs1456146368
|
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
|
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)
|
rs1579370234
|
|
|
NM_017755.6(NSUN2):c.953A>C (p.Tyr318Ser)
|
|
|
|
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
|
|
|
|
NM_017755.6(NSUN2):c.97-1G>C
|
|
|
|
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly)
|
rs1737229372
|
|
|
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)
|
rs564938323
|
|
|
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)
|
rs2091405838
|
|
|
NM_018117.12(WDR11):c.1255C>T (p.Gln419Ter)
|
rs2133748193
|
|
|
NM_018117.12(WDR11):c.1439del (p.Asn480fs)
|
rs747938475
|
|
|
NM_018117.12(WDR11):c.2931+1G>A
|
rs1252726486
|
|
|
NM_018117.12(WDR11):c.3033_3036del
|
rs760973100
|
|
|
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)
|
rs2090517565
|
|
|
NM_018255.4(ELP2):c.1385G>T (p.Arg462Leu)
|
rs371310428
|
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
|
|
|
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro)
|
rs772450541
|
|
|
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
|
|
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
|
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
|
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
|
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
|
|
|
|
NM_018255.4(ELP2):c.454C>A (p.Leu152Ile)
|
rs2144603879
|
|
|
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs)
|
rs762131179
|
|
|
NM_018297.4(NGLY1):c.1124_1125del (p.Tyr375fs)
|
|
|
|
NM_018297.4(NGLY1):c.1168C>G (p.Arg390Gly)
|
|
|
|
NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu)
|
|
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
|
NM_018297.4(NGLY1):c.1764_1785del (p.Asp588fs)
|
rs2125442722
|
|
|
NM_018297.4(NGLY1):c.1891del (p.Gln631fs)
|
rs587776982
|
|
|
NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr)
|
|
|
|
NM_018297.4(NGLY1):c.490dup (p.Thr164fs)
|
|
|
|
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)
|
rs762276611
|
|
|
NM_018444.3(PDP1):c.-273T>A
|
rs4469422
|
|
|
NM_018444.4(PDP1):c.*1661del
|
rs60316663
|
|
|
NM_018444.4(PDP1):c.*724del
|
rs886063179
|
|
|
NM_018444.4(PDP1):c.*898CTT[1]
|
rs756226872
|
|
|
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)
|
rs267606938
|
|
|
NM_018444.4(PDP1):c.500dup (p.Leu167fs)
|
rs1810312864
|
|
|
NM_018444.4(PDP1):c.851_853del (p.Leu284del)
|
rs1554572756
|
|
|
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
|
|
|
|
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile)
|
rs200347646
|
|
|
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr)
|
rs1463766241
|
|
|
NM_020066.5(FMN2):c.1394dup (p.Ala466fs)
|
rs727502860
|
|
|
NM_020066.5(FMN2):c.1550del (p.Pro517fs)
|
rs1390970926
|
|
|
NM_020066.5(FMN2):c.1591G>T (p.Asp531Tyr)
|
|
|
|
NM_020066.5(FMN2):c.1618C>T (p.Arg540Ter)
|
rs1247510585
|
|
|
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del)
|
rs71929261
|
|
|
NM_020066.5(FMN2):c.162del (p.Gly55fs)
|
rs1572736047
|
|
|
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
|
|
|
|
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter)
|
rs1426355851
|
|
|
NM_020066.5(FMN2):c.2515del (p.Thr839fs)
|
rs727502861
|
|
|
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
|
|
|
|
NM_020066.5(FMN2):c.2842_2873del (p.Leu948fs)
|
|
|
|
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu)
|
rs202165125
|
|
|
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
|
|
|
|
NM_020066.5(FMN2):c.3324TCC[1] (p.Pro1112del)
|
rs780903069
|
|
|
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
|
|
|
|
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
|
|
|
|
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)
|
rs757511770
|
|
|
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
|
|
|
|
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
|
|
|
|
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
|
|
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
|
NM_020374.4(C12orf4):c.187G>T (p.Glu63Ter)
|
|
|
|
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)
|
rs730882197
|
|
|
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
|
|
|
|
NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)
|
|
|
|
NM_020897.3(HCN3):c.*1354A>G
|
rs1674455124
|
|
|
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr)
|
rs768220615
|
|
|
NM_021956.5(GRIK2):c.1095+2T>A
|
|
|
|
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe)
|
rs1356066581
|
|
|
NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter)
|
rs749995448
|
|
|
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile)
|
rs1780549634
|
|
|
NM_021957.4(GYS2):c.*290G>T
|
rs17849015
|
|
|
NM_021957.4(GYS2):c.*437dup
|
rs60154469
|
|
|
NM_021957.4(GYS2):c.*468T>C
|
rs1943911606
|
|
|
NM_021957.4(GYS2):c.*545G>A
|
rs562024109
|
|
|
NM_021957.4(GYS2):c.*567del
|
rs886049152
|
|
|
NM_021957.4(GYS2):c.*684C>T
|
rs746414953
|
|
|
NM_021957.4(GYS2):c.*735TAAA[1]
|
rs886049151
|
|
|
NM_021957.4(GYS2):c.1062+13T>C
|
|
|
|
NM_021957.4(GYS2):c.1062+1G>T
|
rs781511110
|
|
|
NM_021957.4(GYS2):c.1094_1098del (p.Phe365fs)
|
rs2136877292
|
|
|
NM_021957.4(GYS2):c.1170-4A>G
|
rs886049157
|
|
|
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr)
|
rs763052951
|
|
|
NM_021957.4(GYS2):c.1176T>C (p.Val392=)
|
|
|
|
NM_021957.4(GYS2):c.117T>A (p.Asn39Lys)
|
rs777214550
|
|
|
NM_021957.4(GYS2):c.121+20del
|
rs780527297
|
|
|
NM_021957.4(GYS2):c.1229+11G>C
|
|
|
|
NM_021957.4(GYS2):c.1229+20_1229+26del
|
|
|
|
NM_021957.4(GYS2):c.1230-14dup
|
rs752714629
|
|
|
NM_021957.4(GYS2):c.1245C>T (p.Asp415=)
|
|
|
|
NM_021957.4(GYS2):c.1335G>A (p.Thr445=)
|
|
|
|
NM_021957.4(GYS2):c.1336C>G (p.His446Asp)
|
rs121918425
|
|
|
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs)
|
|
|
|
NM_021957.4(GYS2):c.1418T>G (p.Val473Gly)
|
rs886049156
|
|
|
NM_021957.4(GYS2):c.1422+7C>A
|
rs1591788895
|
|
|
NM_021957.4(GYS2):c.1447T>C (p.Ser483Pro)
|
rs121918424
|
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
|
NM_021957.4(GYS2):c.1477T>A (p.Tyr493Asn)
|
rs539369206
|
|
|
NM_021957.4(GYS2):c.1542T>C (p.Tyr514=)
|
rs2136849748
|
|
|
NM_021957.4(GYS2):c.1549+12G>A
|
|
|
|
NM_021957.4(GYS2):c.1550-12T>C
|
rs2136842291
|
|
|
NM_021957.4(GYS2):c.1623C>A (p.His541Gln)
|
rs532771906
|
|
|
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
|
rs1565591921
|
|
|
NM_021957.4(GYS2):c.1735C>T (p.Arg579Cys)
|
|
|
|
NM_021957.4(GYS2):c.1739G>A (p.Arg580His)
|
|
|
|
NM_021957.4(GYS2):c.174A>G (p.Glu58=)
|
|
|
|
NM_021957.4(GYS2):c.1753C>T (p.Gln585Ter)
|
|
|
|
NM_021957.4(GYS2):c.1820A>G (p.His607Arg)
|
rs886049155
|
|
|
NM_021957.4(GYS2):c.1890+25del
|
rs36023861
|
|
|
NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)
|
|
|
|
NM_021957.4(GYS2):c.2055T>C (p.Phe685=)
|
rs201063818
|
|
|
NM_021957.4(GYS2):c.2068G>A (p.Val690Ile)
|
|
|
|
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
|
rs574787003
|
|
|
NM_021957.4(GYS2):c.279C>T (p.Asp93=)
|
rs779704436
|
|
|
NM_021957.4(GYS2):c.283A>G (p.Met95Val)
|
|
|
|
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu)
|
rs886049161
|
|
|
NM_021957.4(GYS2):c.294T>C (p.His98=)
|
|
|
|
NM_021957.4(GYS2):c.299G>A (p.Cys100Tyr)
|
rs144077289
|
|
|
NM_021957.4(GYS2):c.308A>G (p.His103Arg)
|
|
|
|
NM_021957.4(GYS2):c.36G>A (p.Leu12=)
|
rs773596311
|
|
|
NM_021957.4(GYS2):c.376_377del (p.Asn126fs)
|
|
|
|
NM_021957.4(GYS2):c.420C>G (p.Val140=)
|
|
|
|
NM_021957.4(GYS2):c.464T>G (p.Phe155Cys)
|
|
|
|
NM_021957.4(GYS2):c.465del (p.Phe155fs)
|
rs763929651
|
|
|
NM_021957.4(GYS2):c.495+10A>G
|
|
|
|
NM_021957.4(GYS2):c.496-11dup
|
|
|
|
NM_021957.4(GYS2):c.513T>C (p.Asp171=)
|
|
|
|
NM_021957.4(GYS2):c.522T>G (p.Tyr174Ter)
|
|
|
|
NM_021957.4(GYS2):c.574C>A (p.Arg192=)
|
|
|
|
NM_021957.4(GYS2):c.574C>T (p.Arg192Ter)
|
rs150382575
|
|
|
NM_021957.4(GYS2):c.601A>T (p.Ile201Leu)
|
|
|
|
NM_021957.4(GYS2):c.693A>C (p.Lys231Asn)
|
|
|
|
NM_021957.4(GYS2):c.710_711delinsCC (p.Gln237Pro)
|
|
|
|
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)
|
rs779543684
|
|
|
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly)
|
rs886049160
|
|
|
NM_021957.4(GYS2):c.823+18A>G
|
|
|
|
NM_021957.4(GYS2):c.840C>T (p.Asn280=)
|
|
|
|
NM_021957.4(GYS2):c.941+1G>C
|
rs587776831
|
|
|
NM_021957.4(GYS2):c.941+20A>G
|
|
|
|
NM_021957.4(GYS2):c.942-2A>G
|
|
|
|
NM_021957.4(GYS2):c.942-6T>C
|
rs886049158
|
|
|
NM_022042.4(SLC26A1):c.*1030G>A
|
rs538533905
|
|
|
NM_022042.4(SLC26A1):c.*874C>A
|
rs775172497
|
|
|
NM_022042.4(SLC26A1):c.*874C>G
|
rs775172497
|
|
|
NM_022042.4(SLC26A1):c.1357del (p.Ala453fs)
|
rs768949918
|
|
|
NM_022042.4(SLC26A1):c.139del (p.Arg47fs)
|
rs1553915793
|
|
|
NM_022042.4(SLC26A1):c.1484del (p.Ile495fs)
|
rs1553915253
|
|
|
NM_022042.4(SLC26A1):c.154del (p.Asp52fs)
|
rs1553915784
|
|
|
NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs)
|
rs1553915228
|
|
|
NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs)
|
rs1265696919
|
|
|
NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs)
|
rs1265696919
|
|
|
NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr)
|
rs387907481
|
|
|
NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del)
|
rs1553915189
|
|
|
NM_022042.4(SLC26A1):c.1735del (p.Glu579fs)
|
rs1372086275
|
|
|
NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)
|
rs1553915192
|
|
|
NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter)
|
rs200798328
|
|
|
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs)
|
rs1553915188
|
|
|
NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer)
|
rs1553915173
|
|
|
NM_022042.4(SLC26A1):c.1901del (p.Arg634fs)
|
rs1553915155
|
|
|
NM_022042.4(SLC26A1):c.1915del (p.Ala639fs)
|
rs1553915149
|
|
|
NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter)
|
rs752252231
|
|
|
NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter)
|
rs1553915726
|
|
|
NM_022042.4(SLC26A1):c.335del (p.Tyr112fs)
|
rs1553915711
|
|
|
NM_022042.4(SLC26A1):c.347del (p.Gly116fs)
|
rs756881822
|
|
|
NM_022172.2(PC):c.[2095G>A];[2095G>T]
|
|
|
|
NM_022895.3(C12orf43):c.*1890C>A
|
rs886049035
|
|
|
NM_022895.3(C12orf43):c.*1890C>T
|
rs886049035
|
|
|
NM_022895.3(C12orf43):c.*2372G>A
|
rs55962050
|
|
|
NM_022895.3(C12orf43):c.*2626G>A
|
rs1877483762
|
|
|
NM_022895.3(C12orf43):c.*2694A>C
|
rs571084139
|
|
|
NM_022895.3(C12orf43):c.*2765C>T
|
rs1877471070
|
|
|
NM_022895.3(C12orf43):c.*2768G>A
|
rs972789249
|
|
|
NM_022895.3(C12orf43):c.*2768G>T
|
rs972789249
|
|
|
NM_022895.3(C12orf43):c.*2922C>A
|
rs758414199
|
|
|
NM_022895.3(C12orf43):c.*2922C>G
|
rs758414199
|
|
|
NM_024036.5(LRFN4):c.1882G>T (p.Glu628Ter)
|
rs1230803568
|
|
|
NM_024298.5(MBOAT7):c.-1587C>G
|
rs145947907
|
|
|
NM_024298.5(MBOAT7):c.1031+17A>G
|
rs1034934225
|
|
|
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln)
|
rs761899500
|
|
|
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)
|
rs2076017638
|
|
|
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)
|
rs2076013475
|
|
|
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro)
|
rs2076008543
|
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
|
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
|
|
|
|
NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs)
|
rs548203729
|
|
|
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)
|
rs2076508722
|
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
|
NM_024298.5(MBOAT7):c.423del (p.Leu142fs)
|
rs886041059
|
|
|
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)
|
|
|
|
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro)
|
rs185682596
|
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
|
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)
|
rs868498080
|
|
|
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)
|
rs750035706
|
|
|
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)
|
rs2146989146
|
|
|
NM_024298.5(MBOAT7):c.820_826del (p.Gly274fs)
|
rs886041061
|
|
|
NM_024298.5(MBOAT7):c.823G>A (p.Gly275Ser)
|
rs756299945
|
|
|
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala)
|
rs1055465093
|
|
|
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=)
|
rs767593470
|
|
|
NM_024298.5(MBOAT7):c.854+1G>C
|
rs886041060
|
|
|
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu)
|
rs2076188195
|
|
|
NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del)
|
rs2146977904
|
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
|
NM_024312.5(GNPTAB):c.3435-1G>A
|
rs281865037
|
|
|
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)
|
rs34946266
|
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
|
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met)
|
rs145589459
|
|
|
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu)
|
rs1235563636
|
|
|
NM_024735.5(FBXO31):c.638C>A (p.Pro213His)
|
rs1905261526
|
|
|
NM_024735.5(FBXO31):c.847_852delinsA (p.Cys283fs)
|
rs587777703
|
|
|
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu)
|
rs201527519
|
|
|
NM_024824.5(ZC3H14):c.1354+15A>G
|
rs2297124
|
|
|
NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe)
|
rs370546299
|
|
|
NM_024824.5(ZC3H14):c.2204+17_2204+41del
|
rs571303442
|
|
|
NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter)
|
rs886037950
|
|
|
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
|
|
|
|
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
|
|
|
|
NM_024989.4(PGAP1):c.1062G>A (p.Val354=)
|
rs1576164995
|
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
|
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)
|
rs747024084
|
|
|
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
|
|
|
|
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
|
|
|
|
NM_024989.4(PGAP1):c.1089+16A>G
|
|
|
|
NM_024989.4(PGAP1):c.1090-2A>G
|
rs869025581
|
|
|
NM_024989.4(PGAP1):c.1113A>G (p.Thr371=)
|
|
|
|
NM_024989.4(PGAP1):c.1173+10T>C
|
rs767930615
|
|
|
NM_024989.4(PGAP1):c.1182T>C (p.Asn394=)
|
|
|
|
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
|
|
|
|
NM_024989.4(PGAP1):c.1220+10_1220+11del
|
rs2125812459
|
|
|
NM_024989.4(PGAP1):c.1220+3A>G
|
rs2125812472
|
|
|
NM_024989.4(PGAP1):c.1221-3A>G
|
rs1701868598
|
|
|
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=)
|
rs2125812117
|
|
|
NM_024989.4(PGAP1):c.124A>G (p.Met42Val)
|
rs772948939
|
|
|
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
|
|
|
|
NM_024989.4(PGAP1):c.1273-17dup
|
rs3835877
|
|
|
NM_024989.4(PGAP1):c.1273-18_1273-16del
|
rs1446681212
|
|
|
NM_024989.4(PGAP1):c.1273-8del
|
rs3835877
|
|
|
NM_024989.4(PGAP1):c.129T>C (p.Phe43=)
|
|
|
|
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
|
|
|
|
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA
|
rs759795498
|
|
|
NM_024989.4(PGAP1):c.1351-22_1351-19del
|
|
|
|
NM_024989.4(PGAP1):c.1351-2A>G
|
|
|
|
NM_024989.4(PGAP1):c.1362T>C (p.Asp454=)
|
|
|
|
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
|
|
|
|
NM_024989.4(PGAP1):c.1394_1397del (p.Ile465fs)
|
rs781325598
|
|
|
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
|
|
|
|
NM_024989.4(PGAP1):c.1426+17T>A
|
|
|
|
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met)
|
rs1329688368
|
|
|
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)
|
rs1329688368
|
|
|
NM_024989.4(PGAP1):c.1458A>C (p.Thr486=)
|
|
|
|
NM_024989.4(PGAP1):c.147+5G>C
|
|
|
|
NM_024989.4(PGAP1):c.148-9T>A
|
|
|
|
NM_024989.4(PGAP1):c.1494T>C (p.Phe498=)
|
rs1553601067
|
|
|
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
|
|
|
|
NM_024989.4(PGAP1):c.1500+14A>T
|
|
|
|
NM_024989.4(PGAP1):c.1501-18G>A
|
|
|
|
NM_024989.4(PGAP1):c.1501-2A>G
|
rs1288514578
|
|
|
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
|
|
|
|
NM_024989.4(PGAP1):c.1553-15dup
|
|
|
|
NM_024989.4(PGAP1):c.1553-16T>A
|
|
|
|
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)
|
rs869025578
|
|
|
NM_024989.4(PGAP1):c.1617A>G (p.Ala539=)
|
|
|
|
NM_024989.4(PGAP1):c.1621G>A (p.Ala541Thr)
|
|
|
|
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
|
|
|
|
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
|
|
|
|
NM_024989.4(PGAP1):c.1729-16_1729-13del
|
|
|
|
NM_024989.4(PGAP1):c.1743T>A (p.Thr581=)
|
|
|
|
NM_024989.4(PGAP1):c.1755A>G (p.Gln585=)
|
|
|
|
NM_024989.4(PGAP1):c.1862-19A>T
|
rs2125779528
|
|
|
NM_024989.4(PGAP1):c.1867del (p.Cys623fs)
|
|
|
|
NM_024989.4(PGAP1):c.1869C>T (p.Cys623=)
|
|
|
|
NM_024989.4(PGAP1):c.186C>T (p.Pro62=)
|
|
|
|
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)
|
rs1334582239
|
|
|
NM_024989.4(PGAP1):c.189A>G (p.Ala63=)
|
|
|
|
NM_024989.4(PGAP1):c.1952+1G>T
|
rs587777202
|
|
|
NM_024989.4(PGAP1):c.1953-14T>G
|
|
|
|
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
|
|
|
|
NM_024989.4(PGAP1):c.195G>A (p.Glu65=)
|
|
|
|
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
|
|
|
|
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2040C>T (p.Pro680=)
|
|
|
|
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)
|
rs2125778704
|
|
|
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
|
|
|
|
NM_024989.4(PGAP1):c.20del (p.Asn7fs)
|
|
|
|
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
|
|
|
|
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)
|
rs1700574769
|
|
|
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
|
|
|
|
NM_024989.4(PGAP1):c.2137C>T (p.Leu713=)
|
|
|
|
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
|
|
|
|
NM_024989.4(PGAP1):c.2199C>T (p.Pro733=)
|
rs1700545839
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
|
NM_024989.4(PGAP1):c.2286+11T>C
|
|
|
|
NM_024989.4(PGAP1):c.2286+13A>G
|
|
|
|
NM_024989.4(PGAP1):c.2286+5G>A
|
rs937847069
|
|
|
NM_024989.4(PGAP1):c.2287-12T>C
|
|
|
|
NM_024989.4(PGAP1):c.2287-1G>A
|
|
|
|
NM_024989.4(PGAP1):c.2287-20G>A
|
|
|
|
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2301A>G (p.Gln767=)
|
|
|
|
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
|
|
|
|
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
|
|
|
|
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
|
|
|
|
NM_024989.4(PGAP1):c.2338-16C>T
|
|
|
|
NM_024989.4(PGAP1):c.2338-19C>T
|
|
|
|
NM_024989.4(PGAP1):c.2338-2A>C
|
rs1559328283
|
|
|
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)
|
rs760816428
|
|
|
NM_024989.4(PGAP1):c.2352T>C (p.Ser784=)
|
|
|
|
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
|
|
|
|
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
|
|
|
|
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
|
|
|
|
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
|
|
|
|
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
|
|
|
|
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
|
|
|
|
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
|
|
|
|
NM_024989.4(PGAP1):c.2525+4C>T
|
|
|
|
NM_024989.4(PGAP1):c.2526-4A>G
|
|
|
|
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)
|
rs2125775207
|
|
|
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)
|
rs1700449009
|
|
|
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
|
|
|
|
NM_024989.4(PGAP1):c.2630+20C>A
|
|
|
|
NM_024989.4(PGAP1):c.2631-7T>C
|
|
|
|
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)
|
rs1559326086
|
|
|
NM_024989.4(PGAP1):c.2709T>C (p.Tyr903=)
|
|
|
|
NM_024989.4(PGAP1):c.2724T>C (p.Phe908=)
|
rs112469537
|
|
|
NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
|
|
|
|
NM_024989.4(PGAP1):c.274_276del (p.Pro92del)
|
rs869025579
|
|
|
NM_024989.4(PGAP1):c.275del (p.Pro92fs)
|
|
|
|
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
|
|
|
|
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
|
|
|
|
NM_024989.4(PGAP1):c.301+10_301+12del
|
|
|
|
NM_024989.4(PGAP1):c.301+14G>A
|
|
|
|
NM_024989.4(PGAP1):c.301+17G>T
|
rs371993991
|
|
|
NM_024989.4(PGAP1):c.301+5G>A
|
|
|
|
NM_024989.4(PGAP1):c.301+7C>T
|
|
|
|
NM_024989.4(PGAP1):c.302-17A>G
|
rs2125837560
|
|
|
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val)
|
rs375123215
|
|
|
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
|
|
|
|
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)
|
rs1457240197
|
|
|
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)
|
rs1703369332
|
|
|
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
|
|
|
|
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
|
|
|
|
NM_024989.4(PGAP1):c.427C>T (p.Gln143Ter)
|
rs1410587479
|
|
|
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
|
|
|
|
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr)
|
rs1364134988
|
|
|
NM_024989.4(PGAP1):c.477+12G>A
|
|
|
|
NM_024989.4(PGAP1):c.478-15G>T
|
|
|
|
NM_024989.4(PGAP1):c.492T>G (p.Ala164=)
|
rs1246230813
|
|
|
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
|
|
|
|
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
|
|
|
|
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
|
|
|
|
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
|
|
|
|
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
|
|
|
|
NM_024989.4(PGAP1):c.573T>C (p.His191=)
|
|
|
|
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
|
|
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
|
NM_024989.4(PGAP1):c.630A>G (p.Pro210=)
|
rs1299716452
|
|
|
NM_024989.4(PGAP1):c.649+8C>G
|
|
|
|
NM_024989.4(PGAP1):c.684A>G (p.Leu228=)
|
|
|
|
NM_024989.4(PGAP1):c.705A>G (p.Leu235=)
|
rs2125827476
|
|
|
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
|
|
|
|
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
|
|
|
|
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
|
|
|
|
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
|
|
|
|
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter)
|
rs1702534679
|
|
|
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
|
|
|
|
NM_024989.4(PGAP1):c.807+13del
|
|
|
|
NM_024989.4(PGAP1):c.807+14A>G
|
|
|
|
NM_024989.4(PGAP1):c.807+5T>C
|
|
|
|
NM_024989.4(PGAP1):c.808-7_808-3del
|
rs570708925
|
|
|
NM_024989.4(PGAP1):c.822T>G (p.Pro274=)
|
|
|
|
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
|
|
|
|
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
|
|
|
|
NM_024989.4(PGAP1):c.860+16T>C
|
|
|
|
NM_024989.4(PGAP1):c.861-14_861-11del
|
rs751306632
|
|
|
NM_024989.4(PGAP1):c.891A>C (p.Arg297=)
|
|
|
|
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)
|
rs1385705047
|
|
|
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
|
|
|
|
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val)
|
rs1323722383
|
|
|
NM_024989.4(PGAP1):c.915T>C (p.Ala305=)
|
|
|
|
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
|
|
|
|
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs)
|
rs869025580
|
|
|
NM_024989.4(PGAP1):c.927+12dup
|
rs1162737906
|
|
|
NM_024989.4(PGAP1):c.927+9T>A
|
|
|
|
NM_024989.4(PGAP1):c.928-17A>G
|
rs750038255
|
|
|
NM_024989.4(PGAP1):c.928-20T>G
|
|
|
|
NM_024989.4(PGAP1):c.951A>G (p.Lys317=)
|
|
|
|
NM_024989.4(PGAP1):c.984C>T (p.His328=)
|
|
|
|
NM_025083.5(EDC3):c.161T>C (p.Phe54Ser)
|
rs1057517676
|
|
|
NM_030805.4(LMAN2L):c.158G>A (p.Arg53Gln)
|
rs869320632
|
|
|
NM_030805.4(LMAN2L):c.424+11C>T
|
rs2078470068
|
|
|
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)
|
rs1028008100
|
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
|
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)
|
rs2077918865
|
|
|
NM_031229.4(RBCK1):c.1006C>T (p.Leu336=)
|
rs2122282595
|
|
|
NM_031229.4(RBCK1):c.1009C>T (p.Leu337=)
|
rs2122282623
|
|
|
NM_031229.4(RBCK1):c.100C>T (p.Leu34=)
|
rs1440300058
|
|
|
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys)
|
rs2122282675
|
|
|
NM_031229.4(RBCK1):c.1017G>A (p.Arg339=)
|
rs2122282701
|
|
|
NM_031229.4(RBCK1):c.1029+7C>T
|
rs2122282889
|
|
|
NM_031229.4(RBCK1):c.1029+8C>T
|
|
|
|
NM_031229.4(RBCK1):c.1030-12G>A
|
|
|
|
NM_031229.4(RBCK1):c.1030-16C>T
|
|
|
|
NM_031229.4(RBCK1):c.1044G>A (p.Glu348=)
|
rs2122324309
|
|
|
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
|
|
|
|
NM_031229.4(RBCK1):c.1065C>T (p.Asp355=)
|
|
|
|
NM_031229.4(RBCK1):c.1068G>C (p.Leu356=)
|
|
|
|
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser)
|
rs2122324503
|
|
|
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
|
|
|
|
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs)
|
|
|
|
NM_031229.4(RBCK1):c.1111dup (p.Cys371fs)
|
|
|
|
NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)
|
rs1555787599
|
|
|
NM_031229.4(RBCK1):c.1119C>A (p.Thr373=)
|
|
|
|
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
|
|
|
|
NM_031229.4(RBCK1):c.1136G>A (p.Trp379Ter)
|
|
|
|
NM_031229.4(RBCK1):c.1149G>A (p.Glu383=)
|
|
|
|
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
|
|
|
|
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
|
|
|
|
NM_031229.4(RBCK1):c.1170C>G (p.Thr390=)
|
|
|
|
NM_031229.4(RBCK1):c.1176T>C (p.Pro392=)
|
|
|
|
NM_031229.4(RBCK1):c.1188C>T (p.His396=)
|
rs766618284
|
|
|
NM_031229.4(RBCK1):c.1206C>T (p.Cys402=)
|
|
|
|
NM_031229.4(RBCK1):c.1209+11C>G
|
|
|
|
NM_031229.4(RBCK1):c.1209+24del
|
|
|
|
NM_031229.4(RBCK1):c.1209+6G>T
|
|
|
|
NM_031229.4(RBCK1):c.1209+8C>T
|
|
|
|
NM_031229.4(RBCK1):c.1210-19A>G
|
|
|
|
NM_031229.4(RBCK1):c.1210-7G>A
|
|
|
|
NM_031229.4(RBCK1):c.1210-8C>T
|
|
|
|
NM_031229.4(RBCK1):c.1221G>A (p.Glu407=)
|
rs2122333198
|
|
|
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
|
|
|
|
NM_031229.4(RBCK1):c.1239G>A (p.Glu413=)
|
|
|
|
NM_031229.4(RBCK1):c.1258_1259dup (p.Arg421fs)
|
rs2122333654
|
|
|
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met)
|
rs763071132
|
|
|
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
|
|
|
|
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
|
|
|
|
NM_031229.4(RBCK1):c.12G>A (p.Lys4=)
|
|
|
|
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile)
|
rs1600315243
|
|
|
NM_031229.4(RBCK1):c.1305G>A (p.Leu435=)
|
|
|
|
NM_031229.4(RBCK1):c.1308+12A>G
|
|
|
|
NM_031229.4(RBCK1):c.1308+13C>T
|
|
|
|
NM_031229.4(RBCK1):c.1308+1G>T
|
rs1555787903
|
|
|
NM_031229.4(RBCK1):c.1308+7C>T
|
rs2122334650
|
|
|
NM_031229.4(RBCK1):c.1309-14C>G
|
|
|
|
NM_031229.4(RBCK1):c.1309-9C>T
|
|
|
|
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
|
|
|
|
NM_031229.4(RBCK1):c.132A>G (p.Gln44=)
|
rs145132343
|
|
|
NM_031229.4(RBCK1):c.1332C>G (p.Ala444=)
|
|
|
|
NM_031229.4(RBCK1):c.1344C>T (p.Pro448=)
|
rs756825937
|
|
|
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
|
|
|
|
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
|
|
|
|
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
|
|
|
|
NM_031229.4(RBCK1):c.1377C>T (p.Gly459=)
|
rs2122338340
|
|
|
NM_031229.4(RBCK1):c.1383C>T (p.Asp461=)
|
|
|
|
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
|
|
|
|
NM_031229.4(RBCK1):c.1386G>A (p.Trp462Ter)
|
|
|
|
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
|
|
|
|
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
|
|
|
|
NM_031229.4(RBCK1):c.1410C>A (p.Thr470=)
|
|
|
|
NM_031229.4(RBCK1):c.141T>C (p.Pro47=)
|
|
|
|
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
|
|
|
|
NM_031229.4(RBCK1):c.1431G>A (p.Lys477=)
|
rs2122338869
|
|
|
NM_031229.4(RBCK1):c.1434C>T (p.Gly478=)
|
rs767016233
|
|
|
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala)
|
rs756720324
|
|
|
NM_031229.4(RBCK1):c.1452+15G>T
|
|
|
|
NM_031229.4(RBCK1):c.1452+6T>C
|
rs2122339130
|
|
|
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
|
rs2015609266
|
|
|
NM_031229.4(RBCK1):c.1473G>C (p.Gly491=)
|
|
|
|
NM_031229.4(RBCK1):c.1482C>T (p.Arg494=)
|
|
|
|
NM_031229.4(RBCK1):c.1488G>A (p.Arg496=)
|
rs2122349257
|
|
|
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
|
rs2016958362
|
|
|
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
|
|
|
|
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
|
|
|
|
NM_031229.4(RBCK1):c.1522_1526del (p.Asn508fs)
|
rs2122349615
|
|
|
NM_031229.4(RBCK1):c.1530C>T (p.His510=)
|
rs1002077278
|
|
|
NM_031229.4(RBCK1):c.156G>A (p.Thr52=)
|
|
|
|
NM_031229.4(RBCK1):c.167+10G>A
|
|
|
|
NM_031229.4(RBCK1):c.167+3G>A
|
rs2015610951
|
|
|
NM_031229.4(RBCK1):c.167+9T>C
|
|
|
|
NM_031229.4(RBCK1):c.168-14G>C
|
|
|
|
NM_031229.4(RBCK1):c.168-20G>A
|
|
|
|
NM_031229.4(RBCK1):c.169C>T (p.Leu57=)
|
|
|
|
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)
|
rs1568554230
|
|
|
NM_031229.4(RBCK1):c.186G>A (p.Glu62=)
|
|
|
|
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
|
|
|
|
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
|
rs778362577
|
|
|
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu)
|
rs778362577
|
|
|
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
|
|
|
|
NM_031229.4(RBCK1):c.22+11G>A
|
|
|
|
NM_031229.4(RBCK1):c.22+17G>C
|
|
|
|
NM_031229.4(RBCK1):c.222A>T (p.Thr74=)
|
|
|
|
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
|
|
|
|
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro)
|
rs772407882
|
|
|
NM_031229.4(RBCK1):c.228C>G (p.Arg76=)
|
rs2122225668
|
|
|
NM_031229.4(RBCK1):c.240A>G (p.Thr80=)
|
|
|
|
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala)
|
rs778228682
|
|
|
NM_031229.4(RBCK1):c.261+14C>T
|
|
|
|
NM_031229.4(RBCK1):c.261+15G>A
|
rs11698154
|
|
|
NM_031229.4(RBCK1):c.261+20G>A
|
|
|
|
NM_031229.4(RBCK1):c.261+6_261+9del
|
rs754865819
|
|
|
NM_031229.4(RBCK1):c.262-17C>G
|
|
|
|
NM_031229.4(RBCK1):c.262-4C>G
|
|
|
|
NM_031229.4(RBCK1):c.262-6C>A
|
|
|
|
NM_031229.4(RBCK1):c.282C>T (p.Phe94=)
|
rs753580979
|
|
|
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
|
|
|
|
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly)
|
rs764728866
|
|
|
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln)
|
rs752153553
|
|
|
NM_031229.4(RBCK1):c.325C>T (p.Arg109Ter)
|
rs1568554654
|
|
|
NM_031229.4(RBCK1):c.330C>T (p.Asp110=)
|
|
|
|
NM_031229.4(RBCK1):c.331C>T (p.Gln111Ter)
|
rs746197240
|
|
|
NM_031229.4(RBCK1):c.348C>G (p.Ser116=)
|
|
|
|
NM_031229.4(RBCK1):c.354G>A (p.Gly118=)
|
rs560528051
|
|
|
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
|
|
|
|
NM_031229.4(RBCK1):c.366T>C (p.Asn122=)
|
rs2122227710
|
|
|
NM_031229.4(RBCK1):c.372C>T (p.Asp124=)
|
|
|
|
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
|
|
|
|
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu)
|
rs2122228193
|
|
|
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)
|
rs1471676178
|
|
|
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
|
|
|
|
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys)
|
rs1555785275
|
|
|
NM_031229.4(RBCK1):c.441G>A (p.Arg147=)
|
|
|
|
NM_031229.4(RBCK1):c.447G>A (p.Leu149=)
|
|
|
|
NM_031229.4(RBCK1):c.450G>T (p.Arg150=)
|
rs2016096112
|
|
|
NM_031229.4(RBCK1):c.456G>A (p.Leu152=)
|
|
|
|
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
|
|
|
|
NM_031229.4(RBCK1):c.460+12C>T
|
|
|
|
NM_031229.4(RBCK1):c.460+13C>T
|
|
|
|
NM_031229.4(RBCK1):c.460+14_460+47del
|
rs2122228766
|
|
|
NM_031229.4(RBCK1):c.460+15T>C
|
|
|
|
NM_031229.4(RBCK1):c.461-12C>G
|
|
|
|
NM_031229.4(RBCK1):c.461-2A>G
|
rs2016220601
|
|
|
NM_031229.4(RBCK1):c.461-8C>A
|
|
|
|
NM_031229.4(RBCK1):c.462T>C (p.Asp154=)
|
|
|
|
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)
|
rs2016220877
|
|
|
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala)
|
rs2016222055
|
|
|
NM_031229.4(RBCK1):c.483G>A (p.Thr161=)
|
|
|
|
NM_031229.4(RBCK1):c.492G>A (p.Pro164=)
|
rs765582031
|
|
|
NM_031229.4(RBCK1):c.492G>T (p.Pro164=)
|
|
|
|
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys)
|
rs2122242440
|
|
|
NM_031229.4(RBCK1):c.49C>T (p.Arg17Ter)
|
|
|
|
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
|
|
|
|
NM_031229.4(RBCK1):c.513C>T (p.Gly171=)
|
rs777854248
|
|
|
NM_031229.4(RBCK1):c.516C>T (p.Pro172=)
|
|
|
|
NM_031229.4(RBCK1):c.525C>T (p.Pro175=)
|
|
|
|
NM_031229.4(RBCK1):c.528G>T (p.Gly176=)
|
|
|
|
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala)
|
rs766968693
|
|
|
NM_031229.4(RBCK1):c.531C>A (p.Val177=)
|
|
|
|
NM_031229.4(RBCK1):c.531C>G (p.Val177=)
|
rs375018967
|
|
|
NM_031229.4(RBCK1):c.543C>T (p.Pro181=)
|
rs377036635
|
|
|
NM_031229.4(RBCK1):c.549G>C (p.Arg183=)
|
rs1029755805
|
|
|
NM_031229.4(RBCK1):c.549G>T (p.Arg183=)
|
rs1029755805
|
|
|
NM_031229.4(RBCK1):c.570T>G (p.Pro190=)
|
|
|
|
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
|
|
|
|
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
|
|
|
|
NM_031229.4(RBCK1):c.582+17C>T
|
|
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
|
NM_031229.4(RBCK1):c.582+1G>C
|
rs1017046170
|
|
|
NM_031229.4(RBCK1):c.582+9_582+15dup
|
|
|
|
NM_031229.4(RBCK1):c.583-17G>C
|
|
|
|
NM_031229.4(RBCK1):c.586_596del (p.Gly196fs)
|
rs1487503835
|
|
|
NM_031229.4(RBCK1):c.594G>A (p.Gln198=)
|
|
|
|
NM_031229.4(RBCK1):c.600C>T (p.Pro200=)
|
rs561932073
|
|
|
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
|
|
|
|
NM_031229.4(RBCK1):c.606C>T (p.Cys202=)
|
|
|
|
NM_031229.4(RBCK1):c.621G>A (p.Lys207=)
|
rs1394794776
|
|
|
NM_031229.4(RBCK1):c.627G>A (p.Thr209=)
|
|
|
|
NM_031229.4(RBCK1):c.633T>C (p.Pro211=)
|
|
|
|
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu)
|
rs764357407
|
|
|
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
|
|
|
|
NM_031229.4(RBCK1):c.657G>A (p.Ala219=)
|
|
|
|
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
|
|
|
|
NM_031229.4(RBCK1):c.663del (p.Glu222fs)
|
rs2122245228
|
|
|
NM_031229.4(RBCK1):c.672C>T (p.Tyr224=)
|
|
|
|
NM_031229.4(RBCK1):c.687A>G (p.Ser229=)
|
rs2122245613
|
|
|
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup)
|
rs2016250689
|
|
|
NM_031229.4(RBCK1):c.696C>A (p.Pro232=)
|
|
|
|
NM_031229.4(RBCK1):c.696C>G (p.Pro232=)
|
rs549369680
|
|
|
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn)
|
rs1056596650
|
|
|
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
|
|
|
|
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln)
|
rs756811010
|
|
|
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup)
|
rs2016252024
|
|
|
NM_031229.4(RBCK1):c.701_708dup (p.Ala238fs)
|
|
|
|
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly)
|
rs2122246121
|
|
|
NM_031229.4(RBCK1):c.709C>A (p.Arg237=)
|
|
|
|
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln)
|
rs770302308
|
|
|
NM_031229.4(RBCK1):c.714G>A (p.Ala238=)
|
|
|
|
NM_031229.4(RBCK1):c.714G>T (p.Ala238=)
|
|
|
|
NM_031229.4(RBCK1):c.717C>T (p.Arg239=)
|
|
|
|
NM_031229.4(RBCK1):c.720G>A (p.Leu240=)
|
|
|
|
NM_031229.4(RBCK1):c.723G>A (p.Ala241=)
|
rs762123098
|
|
|
NM_031229.4(RBCK1):c.724_727dup (p.Glu243fs)
|
rs730880329
|
|
|
NM_031229.4(RBCK1):c.727G>T (p.Glu243Ter)
|
rs727503765
|
|
|
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
|
|
|
|
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser)
|
rs993862197
|
|
|
NM_031229.4(RBCK1):c.744T>A (p.Arg248=)
|
|
|
|
NM_031229.4(RBCK1):c.745C>T (p.Gln249Ter)
|
rs2016260522
|
|
|
NM_031229.4(RBCK1):c.751C>T (p.Gln251Ter)
|
rs2016261486
|
|
|
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys)
|
rs2016261661
|
|
|
NM_031229.4(RBCK1):c.756+10A>G
|
|
|
|
NM_031229.4(RBCK1):c.757-10G>A
|
rs1472775469
|
|
|
NM_031229.4(RBCK1):c.757-11C>T
|
|
|
|
NM_031229.4(RBCK1):c.757-13C>T
|
|
|
|
NM_031229.4(RBCK1):c.757-16C>T
|
|
|
|
NM_031229.4(RBCK1):c.757-20G>A
|
|
|
|
NM_031229.4(RBCK1):c.757-20_757-8del
|
rs746640446
|
|
|
NM_031229.4(RBCK1):c.757-4C>T
|
|
|
|
NM_031229.4(RBCK1):c.757-7T>C
|
|
|
|
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp)
|
rs867822612
|
|
|
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
|
|
|
|
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu)
|
rs2016380869
|
|
|
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del)
|
rs770767944
|
|
|
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
|
|
|
|
NM_031229.4(RBCK1):c.765G>C (p.Gln255His)
|
rs1167649288
|
|
|
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg)
|
rs755744736
|
|
|
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
|
|
|
|
NM_031229.4(RBCK1):c.772C>T (p.Gln258Ter)
|
|
|
|
NM_031229.4(RBCK1):c.790C>T (p.Gln264Ter)
|
rs587777561
|
|
|
NM_031229.4(RBCK1):c.795C>G (p.His265Gln)
|
rs1001816526
|
|
|
NM_031229.4(RBCK1):c.799C>T (p.Gln267Ter)
|
rs2122268166
|
|
|
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
|
|
|
|
NM_031229.4(RBCK1):c.831G>A (p.Thr277=)
|
|
|
|
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
|
|
|
|
NM_031229.4(RBCK1):c.836C>A (p.Pro279His)
|
rs778259648
|
|
|
NM_031229.4(RBCK1):c.837C>T (p.Pro279=)
|
rs1433038293
|
|
|
NM_031229.4(RBCK1):c.840C>T (p.Ala280=)
|
|
|
|
NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr)
|
rs1600298063
|
|
|
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
|
|
|
|
NM_031229.4(RBCK1):c.867G>A (p.Leu289=)
|
|
|
|
NM_031229.4(RBCK1):c.873C>A (p.Pro291=)
|
|
|
|
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
|
|
|
|
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
|
|
|
|
NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
|
|
|
|
NM_031229.4(RBCK1):c.882C>A (p.Ala294=)
|
|
|
|
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu)
|
rs765956229
|
|
|
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del)
|
rs2122269453
|
|
|
NM_031229.4(RBCK1):c.891G>A (p.Leu297=)
|
|
|
|
NM_031229.4(RBCK1):c.893G>A (p.Arg298His)
|
rs2016395491
|
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
|
NM_031229.4(RBCK1):c.900T>C (p.Cys300=)
|
|
|
|
NM_031229.4(RBCK1):c.903G>T (p.Leu301=)
|
rs1228337215
|
|
|
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_031229.4(RBCK1):c.909C>T (p.Thr303=)
|
|
|
|
NM_031229.4(RBCK1):c.917+11dup
|
|
|
|
NM_031229.4(RBCK1):c.917+12A>G
|
|
|
|
NM_031229.4(RBCK1):c.917+17C>T
|
|
|
|
NM_031229.4(RBCK1):c.917+19C>A
|
|
|
|
NM_031229.4(RBCK1):c.917+19C>G
|
|
|
|
NM_031229.4(RBCK1):c.918-14C>T
|
|
|
|
NM_031229.4(RBCK1):c.918-16C>G
|
|
|
|
NM_031229.4(RBCK1):c.918-18T>G
|
|
|
|
NM_031229.4(RBCK1):c.918-19_918-18del
|
rs1440664609
|
|
|
NM_031229.4(RBCK1):c.918-7C>G
|
|
|
|
NM_031229.4(RBCK1):c.927G>A (p.Leu309=)
|
|
|
|
NM_031229.4(RBCK1):c.933C>T (p.Gly311=)
|
rs2016473810
|
|
|
NM_031229.4(RBCK1):c.936C>T (p.Thr312=)
|
|
|
|
NM_031229.4(RBCK1):c.942C>T (p.Arg314=)
|
|
|
|
NM_031229.4(RBCK1):c.948C>T (p.Ser316=)
|
|
|
|
NM_031229.4(RBCK1):c.949C>T (p.Gln317Ter)
|
rs2122281705
|
|
|
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
|
|
|
|
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
|
|
|
|
NM_031229.4(RBCK1):c.981C>T (p.Asp327=)
|
rs2122282048
|
|
|
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
|
|
|
|
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys)
|
rs2122282171
|
|
|
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp)
|
rs781592121
|
|
|
NM_031229.4(RBCK1):c.993G>T (p.Ser331=)
|
rs750664557
|
|
|
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser)
|
rs2122282299
|
|
|
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del)
|
rs2122282189
|
|
|
NM_031229.4(RBCK1):c.996C>T (p.Cys332=)
|
|
|
|
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
|
|
|
|
NM_031229.4(RBCK1):c.999G>A (p.Ser333=)
|
rs146181107
|
|
|
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
|
|
|
|
NM_031466.8(TRAPPC9):c.-124dup
|
rs765943218
|
|
|
NM_031466.8(TRAPPC9):c.-129_-109dup
|
rs367682297
|
|
|
NM_032119.4(ADGRV1):c.11429G>T (p.Gly3810Val)
|
rs2149973288
|
|
|
NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser)
|
rs752345868
|
|
|
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg)
|
rs868551107
|
|
|
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
|
|
|
|
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
|
|
|
|
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
|
|
|
|
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
|
|
|
|
NM_032982.4(CASP2):c.876+1G>T
|
|
|
|
NM_033159.4(HYAL1):c.*106G>C
|
rs903056291
|
|
|
NM_033159.4(HYAL1):c.*333C>G
|
rs1702060462
|
|
|
NM_033159.4(HYAL1):c.1005C>T (p.Ala335=)
|
|
|
|
NM_033159.4(HYAL1):c.1014G>A (p.Glu338=)
|
|
|
|
NM_033159.4(HYAL1):c.1017T>C (p.Tyr339=)
|
rs2109302970
|
|
|
NM_033159.4(HYAL1):c.102C>G (p.Thr34=)
|
rs373591585
|
|
|
NM_033159.4(HYAL1):c.102C>T (p.Thr34=)
|
rs373591585
|
|
|
NM_033159.4(HYAL1):c.1030C>T (p.Leu344=)
|
rs1239924466
|
|
|
NM_033159.4(HYAL1):c.1038C>G (p.Pro346=)
|
|
|
|
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
|
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
|
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
|
|
|
|
NM_033159.4(HYAL1):c.104del (p.Val35fs)
|
rs2109309063
|
|
|
NM_033159.4(HYAL1):c.1056C>T (p.Thr352=)
|
|
|
|
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
|
|
|
|
NM_033159.4(HYAL1):c.1071C>T (p.Leu357=)
|
|
|
|
NM_033159.4(HYAL1):c.1084C>T (p.Leu362=)
|
rs1702098144
|
|
|
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
|
rs1702097712
|
|
|
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
|
|
|
|
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
|
|
|
|
NM_033159.4(HYAL1):c.110_134dup (p.Arg46fs)
|
|
|
|
NM_033159.4(HYAL1):c.1110C>A (p.Val370=)
|
|
|
|
NM_033159.4(HYAL1):c.1110C>G (p.Val370=)
|
|
|
|
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
|
|
|
|
NM_033159.4(HYAL1):c.111T>C (p.Asn37=)
|
|
|
|
NM_033159.4(HYAL1):c.1125C>T (p.His375=)
|
|
|
|
NM_033159.4(HYAL1):c.1137C>T (p.Leu379=)
|
|
|
|
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
|
rs782055404
|
|
|
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
|
|
|
|
NM_033159.4(HYAL1):c.1155C>T (p.Ala385=)
|
|
|
|
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)
|
rs781999703
|
|
|
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
|
|
|
|
NM_033159.4(HYAL1):c.1173C>T (p.Leu391=)
|
rs2109302277
|
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
|
NM_033159.4(HYAL1):c.1176G>C (p.Thr392=)
|
rs587680396
|
|
|
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
|
|
|
|
NM_033159.4(HYAL1):c.1197C>T (p.Ser399=)
|
rs1553712441
|
|
|
NM_033159.4(HYAL1):c.1198C>T (p.Leu400=)
|
rs989449756
|
|
|
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
|
|
|
|
NM_033159.4(HYAL1):c.1203G>T (p.Arg401=)
|
rs2109302089
|
|
|
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
|
|
|
|
NM_033159.4(HYAL1):c.1209C>G (p.Ala403=)
|
rs1553712428
|
|
|
NM_033159.4(HYAL1):c.120C>G (p.Thr40=)
|
rs782749500
|
|
|
NM_033159.4(HYAL1):c.1212C>G (p.Leu404=)
|
rs1702084252
|
|
|
NM_033159.4(HYAL1):c.1230A>G (p.Ala410=)
|
|
|
|
NM_033159.4(HYAL1):c.1230A>T (p.Ala410=)
|
|
|
|
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
|
|
|
|
NM_033159.4(HYAL1):c.1245G>A (p.Glu415=)
|
rs1702083003
|
|
|
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
|
|
|
|
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
|
|
|
|
NM_033159.4(HYAL1):c.1269C>A (p.Gly423=)
|
|
|
|
NM_033159.4(HYAL1):c.1299C>T (p.Ser433=)
|
|
|
|
NM_033159.4(HYAL1):c.133G>T (p.Glu45Ter)
|
rs1575517577
|
|
|
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
|
|
|
|
NM_033159.4(HYAL1):c.147G>A (p.Val49=)
|
|
|
|
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
|
|
|
|
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
|
|
|
|
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
|
|
|
|
NM_033159.4(HYAL1):c.15G>C (p.Leu5=)
|
rs1702232203
|
|
|
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
|
|
|
|
NM_033159.4(HYAL1):c.190C>T (p.Gln64Ter)
|
|
|
|
NM_033159.4(HYAL1):c.201del (p.Gly68fs)
|
|
|
|
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
|
|
|
|
NM_033159.4(HYAL1):c.219T>A (p.Ile73=)
|
rs782696394
|
|
|
NM_033159.4(HYAL1):c.21C>T (p.Pro7=)
|
|
|
|
NM_033159.4(HYAL1):c.221del (p.Phe74fs)
|
|
|
|
NM_033159.4(HYAL1):c.221dup (p.Tyr75fs)
|
rs1450097579
|
|
|
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile)
|
rs1221211075
|
|
|
NM_033159.4(HYAL1):c.235C>T (p.Leu79=)
|
|
|
|
NM_033159.4(HYAL1):c.238_239del (p.Gly80fs)
|
rs782636282
|
|
|
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
|
|
|
|
NM_033159.4(HYAL1):c.24C>T (p.Ile8=)
|
rs370239620
|
|
|
NM_033159.4(HYAL1):c.250del (p.Tyr84fs)
|
|
|
|
NM_033159.4(HYAL1):c.255C>T (p.Tyr85=)
|
rs2109308586
|
|
|
NM_033159.4(HYAL1):c.261C>T (p.Pro87=)
|
rs942837278
|
|
|
NM_033159.4(HYAL1):c.267G>A (p.Gly89=)
|
rs587724757
|
|
|
NM_033159.4(HYAL1):c.267G>C (p.Gly89=)
|
rs587724757
|
|
|
NM_033159.4(HYAL1):c.268del (p.Glu90fs)
|
|
|
|
NM_033159.4(HYAL1):c.288G>T (p.Leu96=)
|
rs2109308488
|
|
|
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys)
|
rs782638873
|
|
|
NM_033159.4(HYAL1):c.30C>T (p.Ala10=)
|
|
|
|
NM_033159.4(HYAL1):c.312C>G (p.Ala104=)
|
|
|
|
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
|
|
|
|
NM_033159.4(HYAL1):c.318G>T (p.Leu106=)
|
rs782692193
|
|
|
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
|
|
|
|
NM_033159.4(HYAL1):c.327A>T (p.Thr109=)
|
|
|
|
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
|
rs781865734
|
|
|
NM_033159.4(HYAL1):c.345_348dup (p.Ile117fs)
|
|
|
|
NM_033159.4(HYAL1):c.348C>T (p.Ala116=)
|
|
|
|
NM_033159.4(HYAL1):c.363C>T (p.Asp121=)
|
rs2109308228
|
|
|
NM_033159.4(HYAL1):c.36C>T (p.Phe12=)
|
rs2109309315
|
|
|
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
|
|
|
|
NM_033159.4(HYAL1):c.387C>T (p.Asp129=)
|
|
|
|
NM_033159.4(HYAL1):c.390G>A (p.Trp130Ter)
|
|
|
|
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg)
|
rs1471550375
|
|
|
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
|
|
|
|
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
|
|
|
|
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
|
|
|
|
NM_033159.4(HYAL1):c.407G>A (p.Arg136His)
|
rs376279134
|
|
|
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
|
rs782343934
|
|
|
NM_033159.4(HYAL1):c.410G>A (p.Trp137Ter)
|
|
|
|
NM_033159.4(HYAL1):c.417C>T (p.Phe139=)
|
|
|
|
NM_033159.4(HYAL1):c.420C>T (p.Asn140=)
|
rs782291492
|
|
|
NM_033159.4(HYAL1):c.432G>A (p.Lys144=)
|
|
|
|
NM_033159.4(HYAL1):c.43T>C (p.Leu15=)
|
rs1702231251
|
|
|
NM_033159.4(HYAL1):c.440del (p.Tyr147fs)
|
|
|
|
NM_033159.4(HYAL1):c.441C>G (p.Tyr147Ter)
|
rs1702209886
|
|
|
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln)
|
rs144539557
|
|
|
NM_033159.4(HYAL1):c.445C>T (p.Gln149Ter)
|
rs1702209367
|
|
|
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
|
|
|
|
NM_033159.4(HYAL1):c.44del (p.Leu15fs)
|
rs1553713469
|
|
|
NM_033159.4(HYAL1):c.454C>A (p.Arg152=)
|
rs587774476
|
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
|
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln)
|
rs781929111
|
|
|
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
|
|
|
|
NM_033159.4(HYAL1):c.4del (p.Ala2fs)
|
|
|
|
NM_033159.4(HYAL1):c.504G>A (p.Glu168=)
|
rs1553713217
|
|
|
NM_033159.4(HYAL1):c.516G>A (p.Gln172=)
|
rs2109307766
|
|
|
NM_033159.4(HYAL1):c.521_524dup (p.Phe175fs)
|
rs2109307739
|
|
|
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
|
|
|
|
NM_033159.4(HYAL1):c.528G>A (p.Gln176=)
|
|
|
|
NM_033159.4(HYAL1):c.534T>C (p.Ala178=)
|
|
|
|
NM_033159.4(HYAL1):c.537A>T (p.Ala179=)
|
|
|
|
NM_033159.4(HYAL1):c.540G>A (p.Arg180=)
|
rs2109307682
|
|
|
NM_033159.4(HYAL1):c.545G>A (p.Trp182Ter)
|
|
|
|
NM_033159.4(HYAL1):c.546G>A (p.Trp182Ter)
|
rs1553713200
|
|
|
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
|
|
|
|
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)
|
rs1225771471
|
|
|
NM_033159.4(HYAL1):c.564G>A (p.Gln188=)
|
|
|
|
NM_033159.4(HYAL1):c.571C>A (p.Arg191=)
|
rs143791794
|
|
|
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
|
|
|
|
NM_033159.4(HYAL1):c.573G>A (p.Arg191=)
|
|
|
|
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
|
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
|
NM_033159.4(HYAL1):c.597G>A (p.Trp199Ter)
|
|
|
|
NM_033159.4(HYAL1):c.599del (p.Gly200fs)
|
|
|
|
NM_033159.4(HYAL1):c.600C>T (p.Gly200=)
|
rs374928005
|
|
|
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
|
|
|
|
NM_033159.4(HYAL1):c.612C>T (p.Phe204=)
|
rs781783393
|
|
|
NM_033159.4(HYAL1):c.615T>G (p.Pro205=)
|
|
|
|
NM_033159.4(HYAL1):c.621C>A (p.Cys207Ter)
|
rs1702200130
|
|
|
NM_033159.4(HYAL1):c.621C>T (p.Cys207=)
|
|
|
|
NM_033159.4(HYAL1):c.627C>T (p.Asn209=)
|
|
|
|
NM_033159.4(HYAL1):c.637C>T (p.Leu213=)
|
rs782132370
|
|
|
NM_033159.4(HYAL1):c.639A>G (p.Leu213=)
|
rs1559819460
|
|
|
NM_033159.4(HYAL1):c.63C>A (p.Gly21=)
|
|
|
|
NM_033159.4(HYAL1):c.651C>T (p.Tyr217=)
|
rs2109307304
|
|
|
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
|
|
|
|
NM_033159.4(HYAL1):c.658C>T (p.Gln220Ter)
|
|
|
|
NM_033159.4(HYAL1):c.663_670dup (p.Gly224fs)
|
rs1702197212
|
|
|
NM_033159.4(HYAL1):c.666A>G (p.Pro222=)
|
rs1366454491
|
|
|
NM_033159.4(HYAL1):c.669A>G (p.Ser223=)
|
rs939067401
|
|
|
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
|
|
|
|
NM_033159.4(HYAL1):c.691del (p.Gln231fs)
|
rs1553713128
|
|
|
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
|
|
|
|
NM_033159.4(HYAL1):c.705G>A (p.Leu235=)
|
|
|
|
NM_033159.4(HYAL1):c.707G>A (p.Trp236Ter)
|
rs2109307152
|
|
|
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
|
|
|
|
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
|
|
|
|
NM_033159.4(HYAL1):c.735C>T (p.Ser245=)
|
|
|
|
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
|
|
|
|
NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251fs)
|
rs1553713075
|
|
|
NM_033159.4(HYAL1):c.753G>A (p.Val251=)
|
rs2109307030
|
|
|
NM_033159.4(HYAL1):c.75C>G (p.Pro25=)
|
|
|
|
NM_033159.4(HYAL1):c.765A>G (p.Thr255=)
|
rs2109307002
|
|
|
NM_033159.4(HYAL1):c.768G>C (p.Gly256=)
|
|
|
|
NM_033159.4(HYAL1):c.774A>G (p.Ser258=)
|
rs1363657470
|
|
|
NM_033159.4(HYAL1):c.775C>T (p.Gln259Ter)
|
|
|
|
NM_033159.4(HYAL1):c.783T>C (p.Tyr261=)
|
rs2109306923
|
|
|
NM_033159.4(HYAL1):c.789A>G (p.Gln263=)
|
rs1702190189
|
|
|
NM_033159.4(HYAL1):c.792C>T (p.His264=)
|
|
|
|
NM_033159.4(HYAL1):c.801C>G (p.Ala267=)
|
|
|
|
NM_033159.4(HYAL1):c.801C>T (p.Ala267=)
|
rs149438911
|
|
|
NM_033159.4(HYAL1):c.81del (p.Asn29fs)
|
rs781974681
|
|
|
NM_033159.4(HYAL1):c.825T>G (p.Ala275=)
|
|
|
|
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
|
|
|
|
NM_033159.4(HYAL1):c.834C>T (p.Asp278=)
|
|
|
|
NM_033159.4(HYAL1):c.837C>G (p.Pro279=)
|
rs2109306714
|
|
|
NM_033159.4(HYAL1):c.837C>T (p.Pro279=)
|
rs2109306714
|
|
|
NM_033159.4(HYAL1):c.846G>C (p.Pro282=)
|
rs782094366
|
|
|
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
|
rs902728091
|
|
|
NM_033159.4(HYAL1):c.855C>G (p.Pro285=)
|
rs2109306638
|
|
|
NM_033159.4(HYAL1):c.85_88dup (p.Arg30fs)
|
|
|
|
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
|
|
|
|
NM_033159.4(HYAL1):c.876C>T (p.Asp292=)
|
|
|
|
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
|
|
|
|
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
|
|
|
|
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
|
|
|
|
NM_033159.4(HYAL1):c.900+10C>G
|
|
|
|
NM_033159.4(HYAL1):c.900+14A>T
|
|
|
|
NM_033159.4(HYAL1):c.900+16C>A
|
|
|
|
NM_033159.4(HYAL1):c.900+16C>G
|
|
|
|
NM_033159.4(HYAL1):c.900+17C>T
|
|
|
|
NM_033159.4(HYAL1):c.900+18T>G
|
|
|
|
NM_033159.4(HYAL1):c.900+1G>A
|
|
|
|
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
|
|
|
|
NM_033159.4(HYAL1):c.901-13G>A
|
|
|
|
NM_033159.4(HYAL1):c.901-16G>A
|
|
|
|
NM_033159.4(HYAL1):c.901-20C>T
|
rs2109304533
|
|
|
NM_033159.4(HYAL1):c.901-7T>C
|
|
|
|
NM_033159.4(HYAL1):c.90G>A (p.Arg30=)
|
rs2109309118
|
|
|
NM_033159.4(HYAL1):c.919C>T (p.Leu307=)
|
rs587687583
|
|
|
NM_033159.4(HYAL1):c.921G>A (p.Leu307=)
|
rs782200873
|
|
|
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
|
|
|
|
NM_033159.4(HYAL1):c.933G>C (p.Ala311=)
|
|
|
|
NM_033159.4(HYAL1):c.936C>G (p.Ala312=)
|
rs375213606
|
|
|
NM_033159.4(HYAL1):c.937C>T (p.Gln313Ter)
|
rs2109304251
|
|
|
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
|
|
|
|
NM_033159.4(HYAL1):c.954G>A (p.Val318=)
|
rs2109304145
|
|
|
NM_033159.4(HYAL1):c.957G>A (p.Val319=)
|
|
|
|
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)
|
rs1553712742
|
|
|
NM_033159.4(HYAL1):c.966G>A (p.Val322=)
|
rs1467161408
|
|
|
NM_033159.4(HYAL1):c.969C>T (p.Ser323=)
|
rs978042622
|
|
|
NM_033159.4(HYAL1):c.987C>A (p.Thr329=)
|
|
|
|
NM_033159.4(HYAL1):c.990+12C>T
|
|
|
|
NM_033159.4(HYAL1):c.990+15G>A
|
|
|
|
NM_033159.4(HYAL1):c.990+19T>A
|
|
|
|
NM_033159.4(HYAL1):c.991-11T>A
|
|
|
|
NM_033159.4(HYAL1):c.991-20T>C
|
|
|
|
NM_033159.4(HYAL1):c.991-5C>T
|
|
|
|
NM_033159.4(HYAL1):c.991-6A>C
|
|
|
|
NM_033159.4(HYAL1):c.996A>C (p.Ser332=)
|
|
|
|
NM_033159.4(HYAL1):c.996A>G (p.Ser332=)
|
|
|
|
NM_033159.4(HYAL1):c.99C>A (p.Thr33=)
|
|
|
|
NM_033507.2(GCK):c.488del
|
rs1246464603
|
|
|
NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs)
|
rs1298530904
|
|
|
NM_053013.4(ENO3):c.103G>A (p.Val35Met)
|
rs1317890147
|
|
|
NM_053013.4(ENO3):c.1047G>C (p.Ser349=)
|
|
|
|
NM_053013.4(ENO3):c.105G>A (p.Val35=)
|
|
|
|
NM_053013.4(ENO3):c.1067+16C>T
|
|
|
|
NM_053013.4(ENO3):c.1067+1G>A
|
|
|
|
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr)
|
rs2151144481
|
|
|
NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile)
|
|
|
|
NM_053013.4(ENO3):c.108C>T (p.Pro36=)
|
|
|
|
NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)
|
|
|
|
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)
|
rs1971740543
|
|
|
NM_053013.4(ENO3):c.1115G>A (p.Arg372His)
|
|
|
|
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys)
|
rs770822790
|
|
|
NM_053013.4(ENO3):c.1176+10G>A
|
|
|
|
NM_053013.4(ENO3):c.1176+16C>T
|
|
|
|
NM_053013.4(ENO3):c.1176G>A (p.Gln392=)
|
|
|
|
NM_053013.4(ENO3):c.1177-16C>A
|
|
|
|
NM_053013.4(ENO3):c.1177-16C>T
|
rs372893427
|
|
|
NM_053013.4(ENO3):c.1177-7T>G
|
rs1567674013
|
|
|
NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)
|
|
|
|
NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser)
|
|
|
|
NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)
|
|
|
|
NM_053013.4(ENO3):c.1185T>C (p.Thr395=)
|
|
|
|
NM_053013.4(ENO3):c.1194dup (p.Cys399fs)
|
rs757440599
|
|
|
NM_053013.4(ENO3):c.1199G>A (p.Arg400His)
|
|
|
|
NM_053013.4(ENO3):c.1202C>T (p.Ser401Leu)
|
|
|
|
NM_053013.4(ENO3):c.1203G>A (p.Ser401=)
|
|
|
|
NM_053013.4(ENO3):c.1215C>T (p.Ala405=)
|
|
|
|
NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)
|
|
|
|
NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)
|
|
|
|
NM_053013.4(ENO3):c.1235+19G>A
|
|
|
|
NM_053013.4(ENO3):c.1235+5A>G
|
|
|
|
NM_053013.4(ENO3):c.1236-14T>C
|
|
|
|
NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)
|
|
|
|
NM_053013.4(ENO3):c.1239C>T (p.Ile413=)
|
|
|
|
NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)
|
|
|
|
NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)
|
|
|
|
NM_053013.4(ENO3):c.1272T>C (p.Ala424=)
|
|
|
|
NM_053013.4(ENO3):c.1272T>G (p.Ala424=)
|
|
|
|
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
|
|
|
|
NM_053013.4(ENO3):c.1286G>A (p.Arg429His)
|
|
|
|
NM_053013.4(ENO3):c.1291C>A (p.Pro431Thr)
|
rs1821447881
|
|
|
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
|
|
|
|
NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)
|
|
|
|
NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)
|
|
|
|
NM_053013.4(ENO3):c.132T>C (p.Tyr44=)
|
rs1971587909
|
|
|
NM_053013.4(ENO3):c.135G>A (p.Glu45=)
|
|
|
|
NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)
|
|
|
|
NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)
|
|
|
|
NM_053013.4(ENO3):c.153C>T (p.Asp51=)
|
|
|
|
NM_053013.4(ENO3):c.181+16C>T
|
|
|
|
NM_053013.4(ENO3):c.181+17G>A
|
|
|
|
NM_053013.4(ENO3):c.181+17G>C
|
|
|
|
NM_053013.4(ENO3):c.181+6_181+8del
|
|
|
|
NM_053013.4(ENO3):c.182-18A>G
|
|
|
|
NM_053013.4(ENO3):c.182-7T>C
|
|
|
|
NM_053013.4(ENO3):c.186C>T (p.Val62=)
|
|
|
|
NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)
|
|
|
|
NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)
|
|
|
|
NM_053013.4(ENO3):c.228T>C (p.Ala76=)
|
|
|
|
NM_053013.4(ENO3):c.228T>G (p.Ala76=)
|
|
|
|
NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)
|
|
|
|
NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)
|
|
|
|
NM_053013.4(ENO3):c.240+13G>T
|
rs1555553596
|
|
|
NM_053013.4(ENO3):c.240+16C>T
|
|
|
|
NM_053013.4(ENO3):c.240+18C>T
|
|
|
|
NM_053013.4(ENO3):c.240+20C>G
|
|
|
|
NM_053013.4(ENO3):c.240+9G>A
|
|
|
|
NM_053013.4(ENO3):c.240G>A (p.Lys80=)
|
rs980318534
|
|
|
NM_053013.4(ENO3):c.255G>A (p.Val85=)
|
|
|
|
NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)
|
|
|
|
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu)
|
rs1597699325
|
|
|
NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)
|
|
|
|
NM_053013.4(ENO3):c.300C>T (p.Thr100=)
|
|
|
|
NM_053013.4(ENO3):c.310+11G>C
|
|
|
|
NM_053013.4(ENO3):c.310+18G>A
|
|
|
|
NM_053013.4(ENO3):c.310+1G>C
|
rs113298706
|
|
|
NM_053013.4(ENO3):c.310+3G>A
|
|
|
|
NM_053013.4(ENO3):c.310+7G>A
|
|
|
|
NM_053013.4(ENO3):c.311-15C>T
|
|
|
|
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)
|
rs143749502
|
|
|
NM_053013.4(ENO3):c.339C>T (p.Gly113=)
|
|
|
|
NM_053013.4(ENO3):c.34T>C (p.Leu12=)
|
|
|
|
NM_053013.4(ENO3):c.351C>T (p.Ala117=)
|
|
|
|
NM_053013.4(ENO3):c.352G>A (p.Val118Met)
|
|
|
|
NM_053013.4(ENO3):c.354G>C (p.Val118=)
|
|
|
|
NM_053013.4(ENO3):c.360G>C (p.Lys120Asn)
|
|
|
|
NM_053013.4(ENO3):c.378G>A (p.Lys126=)
|
|
|
|
NM_053013.4(ENO3):c.378G>C (p.Lys126Asn)
|
|
|
|
NM_053013.4(ENO3):c.381G>T (p.Gly127=)
|
|
|
|
NM_053013.4(ENO3):c.382dup (p.Val128fs)
|
|
|
|
NM_053013.4(ENO3):c.383T>A (p.Val128Asp)
|
|
|
|
NM_053013.4(ENO3):c.384C>T (p.Val128=)
|
|
|
|
NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)
|
|
|
|
NM_053013.4(ENO3):c.39C>T (p.Asp13=)
|
|
|
|
NM_053013.4(ENO3):c.3G>A (p.Met1Ile)
|
|
|
|
NM_053013.4(ENO3):c.404C>T (p.Ala135Val)
|
|
|
|
NM_053013.4(ENO3):c.411C>T (p.Leu137=)
|
|
|
|
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr)
|
rs202030238
|
|
|
NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)
|
|
|
|
NM_053013.4(ENO3):c.444+13A>G
|
|
|
|
NM_053013.4(ENO3):c.444+14C>T
|
|
|
|
NM_053013.4(ENO3):c.444+1G>T
|
|
|
|
NM_053013.4(ENO3):c.444+5G>A
|
|
|
|
NM_053013.4(ENO3):c.444+7G>A
|
|
|
|
NM_053013.4(ENO3):c.445-11C>T
|
|
|
|
NM_053013.4(ENO3):c.445-13C>T
|
|
|
|
NM_053013.4(ENO3):c.445-15C>T
|
|
|
|
NM_053013.4(ENO3):c.445-18dup
|
|
|
|
NM_053013.4(ENO3):c.451A>G (p.Asn151Asp)
|
|
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
|
NM_053013.4(ENO3):c.462C>T (p.Asn154=)
|
|
|
|
NM_053013.4(ENO3):c.468C>T (p.Gly156=)
|
|
|
|
NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)
|
|
|
|
NM_053013.4(ENO3):c.475G>C (p.Ala159Pro)
|
rs1971675855
|
|
|
NM_053013.4(ENO3):c.483C>A (p.Asn161Lys)
|
|
|
|
NM_053013.4(ENO3):c.496C>G (p.Gln166Glu)
|
rs1179493512
|
|
|
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp)
|
rs1971550702
|
|
|
NM_053013.4(ENO3):c.501G>A (p.Glu167=)
|
|
|
|
NM_053013.4(ENO3):c.518T>G (p.Val173Gly)
|
rs1597702371
|
|
|
NM_053013.4(ENO3):c.522A>G (p.Gly174=)
|
|
|
|
NM_053013.4(ENO3):c.524C>T (p.Ala175Val)
|
|
|
|
NM_053013.4(ENO3):c.531C>T (p.Ser177=)
|
|
|
|
NM_053013.4(ENO3):c.540A>G (p.Glu180=)
|
|
|
|
NM_053013.4(ENO3):c.544A>G (p.Met182Val)
|
rs1401088566
|
|
|
NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)
|
|
|
|
NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)
|
|
|
|
NM_053013.4(ENO3):c.563T>C (p.Val188Ala)
|
|
|
|
NM_053013.4(ENO3):c.564C>G (p.Val188=)
|
|
|
|
NM_053013.4(ENO3):c.56C>T (p.Thr19Met)
|
|
|
|
NM_053013.4(ENO3):c.570C>T (p.His190=)
|
|
|
|
NM_053013.4(ENO3):c.573C>A (p.His191Gln)
|
|
|
|
NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)
|
|
|
|
NM_053013.4(ENO3):c.615C>T (p.Thr205=)
|
|
|
|
NM_053013.4(ENO3):c.618T>C (p.Asn206=)
|
|
|
|
NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)
|
|
|
|
NM_053013.4(ENO3):c.639C>A (p.Phe213Leu)
|
rs373847361
|
|
|
NM_053013.4(ENO3):c.639C>T (p.Phe213=)
|
|
|
|
NM_053013.4(ENO3):c.651C>T (p.Ile217=)
|
|
|
|
NM_053013.4(ENO3):c.657G>A (p.Glu219=)
|
|
|
|
NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)
|
|
|
|
NM_053013.4(ENO3):c.667+11del
|
|
|
|
NM_053013.4(ENO3):c.667+17C>G
|
|
|
|
NM_053013.4(ENO3):c.667+24dup
|
rs754023017
|
|
|
NM_053013.4(ENO3):c.668-6C>T
|
|
|
|
NM_053013.4(ENO3):c.675G>A (p.Glu225=)
|
|
|
|
NM_053013.4(ENO3):c.687G>A (p.Thr229=)
|
|
|
|
NM_053013.4(ENO3):c.687G>C (p.Thr229=)
|
|
|
|
NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)
|
rs757486701
|
|
|
NM_053013.4(ENO3):c.699G>T (p.Ala233=)
|
|
|
|
NM_053013.4(ENO3):c.6C>T (p.Ala2=)
|
|
|
|
NM_053013.4(ENO3):c.710C>G (p.Pro237Arg)
|
|
|
|
NM_053013.4(ENO3):c.710del (p.Pro237fs)
|
rs778664924
|
|
|
NM_053013.4(ENO3):c.714C>T (p.Asp238=)
|
|
|
|
NM_053013.4(ENO3):c.726C>A (p.Ile242=)
|
|
|
|
NM_053013.4(ENO3):c.726C>T (p.Ile242=)
|
|
|
|
NM_053013.4(ENO3):c.738G>A (p.Val246=)
|
rs1266761542
|
|
|
NM_053013.4(ENO3):c.744A>G (p.Ala248=)
|
|
|
|
NM_053013.4(ENO3):c.750G>A (p.Glu250=)
|
|
|
|
NM_053013.4(ENO3):c.758G>A (p.Arg253His)
|
|
|
|
NM_053013.4(ENO3):c.771C>G (p.Tyr257Ter)
|
|
|
|
NM_053013.4(ENO3):c.771C>T (p.Tyr257=)
|
|
|
|
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn)
|
rs772780015
|
|
|
NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr)
|
|
|
|
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)
|
rs199677913
|
|
|
NM_053013.4(ENO3):c.77C>T (p.Thr26Met)
|
rs199677913
|
|
|
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)
|
rs748865733
|
|
|
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup)
|
rs548538086
|
|
|
NM_053013.4(ENO3):c.789G>A (p.Ser263=)
|
rs75748087
|
|
|
NM_053013.4(ENO3):c.789G>C (p.Ser263=)
|
rs75748087
|
|
|
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup)
|
rs1567672833
|
|
|
NM_053013.4(ENO3):c.78G>A (p.Thr26=)
|
rs758704680
|
|
|
NM_053013.4(ENO3):c.801C>T (p.Pro267=)
|
|
|
|
NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)
|
|
|
|
NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)
|
|
|
|
NM_053013.4(ENO3):c.834del (p.Glu278fs)
|
rs779920188
|
|
|
NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)
|
|
|
|
NM_053013.4(ENO3):c.85+14C>T
|
|
|
|
NM_053013.4(ENO3):c.85+15A>T
|
|
|
|
NM_053013.4(ENO3):c.85+4A>T
|
|
|
|
NM_053013.4(ENO3):c.86-12C>T
|
|
|
|
NM_053013.4(ENO3):c.86-18C>T
|
|
|
|
NM_053013.4(ENO3):c.86-3del
|
rs151153333
|
|
|
NM_053013.4(ENO3):c.865+11C>T
|
|
|
|
NM_053013.4(ENO3):c.865+12G>A
|
|
|
|
NM_053013.4(ENO3):c.865+7C>T
|
|
|
|
NM_053013.4(ENO3):c.865+8G>A
|
|
|
|
NM_053013.4(ENO3):c.866-13C>T
|
|
|
|
NM_053013.4(ENO3):c.866-15T>C
|
|
|
|
NM_053013.4(ENO3):c.866-4C>A
|
|
|
|
NM_053013.4(ENO3):c.866-8C>A
|
|
|
|
NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)
|
|
|
|
NM_053013.4(ENO3):c.87C>A (p.Gly29=)
|
rs771319383
|
|
|
NM_053013.4(ENO3):c.87C>T (p.Gly29=)
|
|
|
|
NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)
|
|
|
|
NM_053013.4(ENO3):c.910del (p.Trp304fs)
|
|
|
|
NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)
|
|
|
|
NM_053013.4(ENO3):c.915C>G (p.Thr305=)
|
|
|
|
NM_053013.4(ENO3):c.915C>T (p.Thr305=)
|
rs565982583
|
|
|
NM_053013.4(ENO3):c.926C>T (p.Ser309Leu)
|
|
|
|
NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)
|
|
|
|
NM_053013.4(ENO3):c.931G>T (p.Val311Leu)
|
|
|
|
NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)
|
|
|
|
NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)
|
|
|
|
NM_053013.4(ENO3):c.969C>T (p.Thr323=)
|
|
|
|
NM_053013.4(ENO3):c.981G>C (p.Arg327Ser)
|
|
|
|
NM_053013.4(ENO3):c.99A>T (p.Ala33=)
|
|
|
|
NM_080749.4(NEURL2):c.-92del
|
rs554760054
|
|
|
NM_138413.4(HOGA1):c.*1059A>C
|
rs886047524
|
|
|
NM_138413.4(HOGA1):c.*186C>A
|
rs576078709
|
|
|
NM_138413.4(HOGA1):c.*204T>A
|
rs886047519
|
|
|
NM_138413.4(HOGA1):c.*288A>C
|
rs886047520
|
|
|
NM_138413.4(HOGA1):c.*291C>T
|
rs1451536369
|
|
|
NM_138413.4(HOGA1):c.*350dup
|
rs1554875325
|
|
|
NM_138413.4(HOGA1):c.*353_*354dup
|
rs5787248
|
|
|
NM_138413.4(HOGA1):c.*354dup
|
rs5787248
|
|
|
NM_138413.4(HOGA1):c.*359dup
|
rs561998392
|
|
|
NM_138413.4(HOGA1):c.*381AG[1]
|
rs886047523
|
|
|
NM_138413.4(HOGA1):c.*391T>C
|
rs2041201199
|
|
|
NM_138413.4(HOGA1):c.*415T>A
|
rs148648470
|
|
|
NM_138413.4(HOGA1):c.*427G>A
|
rs181759217
|
|
|
NM_138413.4(HOGA1):c.*485C>T
|
rs553100036
|
|
|
NM_138413.4(HOGA1):c.*560T>C
|
rs1977641
|
|
|
NM_138413.4(HOGA1):c.*592C>G
|
rs573565860
|
|
|
NM_138413.4(HOGA1):c.*592C>T
|
rs573565860
|
|
|
NM_138413.4(HOGA1):c.*637G>A
|
rs1977640
|
|
|
NM_138413.4(HOGA1):c.*665C>T
|
rs2041204731
|
|
|
NM_138413.4(HOGA1):c.*733C>T
|
rs764120248
|
|
|
NM_138413.4(HOGA1):c.*803A>G
|
rs542605022
|
|
|
NM_138413.4(HOGA1):c.*887C>G
|
rs2041206041
|
|
|
NM_138413.4(HOGA1):c.*937C>T
|
rs532737566
|
|
|
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
|
|
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
|
NM_138413.4(HOGA1):c.110G>A (p.Gly37Asp)
|
|
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
|
NM_138413.4(HOGA1):c.122_123del (p.Pro41fs)
|
rs1564753668
|
|
|
NM_138413.4(HOGA1):c.122del (p.Pro41fs)
|
|
|
|
NM_138413.4(HOGA1):c.122dup (p.Val42fs)
|
rs1425736036
|
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
|
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)
|
rs1221444661
|
|
|
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp)
|
rs1347221993
|
|
|
NM_138413.4(HOGA1):c.158del (p.Asp53fs)
|
rs796052091
|
|
|
NM_138413.4(HOGA1):c.186_187del (p.His62fs)
|
|
|
|
NM_138413.4(HOGA1):c.189del (p.Lys63fs)
|
rs1247079002
|
|
|
NM_138413.4(HOGA1):c.18C>T (p.Val6=)
|
rs1589899135
|
|
|
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)
|
|
|
|
NM_138413.4(HOGA1):c.206T>G (p.Phe69Cys)
|
|
|
|
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
|
|
|
|
NM_138413.4(HOGA1):c.212-1G>A
|
|
|
|
NM_138413.4(HOGA1):c.212G>T (p.Gly71Val)
|
|
|
|
NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp)
|
rs796052088
|
|
|
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)
|
rs1554872338
|
|
|
NM_138413.4(HOGA1):c.234T>A (p.Asn78Lys)
|
|
|
|
NM_138413.4(HOGA1):c.238G>T (p.Glu80Ter)
|
|
|
|
NM_138413.4(HOGA1):c.250del (p.Phe83_Leu84insTer)
|
|
|
|
NM_138413.4(HOGA1):c.251T>C (p.Leu84Pro)
|
|
|
|
NM_138413.4(HOGA1):c.266G>A (p.Arg89His)
|
|
|
|
NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile)
|
rs796052089
|
|
|
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)
|
rs150702945
|
|
|
NM_138413.4(HOGA1):c.340+1G>A
|
|
|
|
NM_138413.4(HOGA1):c.341-82del
|
rs796052083
|
|
|
NM_138413.4(HOGA1):c.341-8T>C
|
rs2041094866
|
|
|
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser)
|
rs2041094955
|
|
|
NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter)
|
rs767405535
|
|
|
NM_138413.4(HOGA1):c.356T>A (p.Val119Glu)
|
|
|
|
NM_138413.4(HOGA1):c.356T>G (p.Val119Gly)
|
|
|
|
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile)
|
|
|
|
NM_138413.4(HOGA1):c.376G>A (p.Ala126Thr)
|
|
|
|
NM_138413.4(HOGA1):c.3G>A (p.Met1Ile)
|
|
|
|
NM_138413.4(HOGA1):c.404del (p.Val135fs)
|
rs1554874148
|
|
|
NM_138413.4(HOGA1):c.413del (p.Pro138fs)
|
rs777683624
|
|
|
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
|
|
|
|
NM_138413.4(HOGA1):c.425G>A (p.Arg142His)
|
|
|
|
NM_138413.4(HOGA1):c.448del (p.Leu150fs)
|
rs746776892
|
|
|
NM_138413.4(HOGA1):c.469-13C>T
|
rs750664684
|
|
|
NM_138413.4(HOGA1):c.469-1G>C
|
|
|
|
NM_138413.4(HOGA1):c.477T>C (p.Asp159=)
|
rs2041100859
|
|
|
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu)
|
|
|
|
NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro)
|
rs796052090
|
|
|
NM_138413.4(HOGA1):c.533_535delinsCGA (p.Leu178_Pro179delinsProThr)
|
|
|
|
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)
|
rs374327791
|
|
|
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser)
|
|
|
|
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
|
|
|
|
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
|
|
|
|
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr)
|
|
|
|
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)
|
|
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
|
NM_138413.4(HOGA1):c.604-4G>T
|
rs2041104477
|
|
|
NM_138413.4(HOGA1):c.634A>C (p.Thr212Pro)
|
|
|
|
NM_138413.4(HOGA1):c.64G>A (p.Val22Met)
|
rs1425518232
|
|
|
NM_138413.4(HOGA1):c.651dup (p.Gln218fs)
|
|
|
|
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr)
|
rs2041104991
|
|
|
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
|
|
|
|
NM_138413.4(HOGA1):c.700+2T>A
|
|
|
|
NM_138413.4(HOGA1):c.700+4G>T
|
rs2041105506
|
|
|
NM_138413.4(HOGA1):c.701-11_701-8dup
|
rs143018385
|
|
|
NM_138413.4(HOGA1):c.701-2A>G
|
rs776817346
|
|
|
NM_138413.4(HOGA1):c.713del (p.Gly238fs)
|
rs760930050
|
|
|
NM_138413.4(HOGA1):c.720C>A (p.Cys240Ter)
|
|
|
|
NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp)
|
rs796052085
|
|
|
NM_138413.4(HOGA1):c.733G>A (p.Val245Ile)
|
rs755562733
|
|
|
NM_138413.4(HOGA1):c.733G>T (p.Val245Phe)
|
rs755562733
|
|
|
NM_138413.4(HOGA1):c.743del (p.Ala248fs)
|
|
|
|
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)
|
rs886047518
|
|
|
NM_138413.4(HOGA1):c.754C>T (p.Gln252Ter)
|
|
|
|
NM_138413.4(HOGA1):c.769_770del (p.Cys257fs)
|
|
|
|
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met)
|
rs144103035
|
|
|
NM_138413.4(HOGA1):c.785G>A (p.Trp262Ter)
|
|
|
|
NM_138413.4(HOGA1):c.787G>T (p.Glu263Ter)
|
|
|
|
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)
|
|
|
|
NM_138413.4(HOGA1):c.796C>T (p.Gln266Ter)
|
rs752277936
|
|
|
NM_138413.4(HOGA1):c.803_805del (p.Leu268del)
|
rs796052092
|
|
|
NM_138413.4(HOGA1):c.814C>G (p.Leu272Val)
|
|
|
|
NM_138413.4(HOGA1):c.833C>A (p.Ala278Glu)
|
|
|
|
NM_138413.4(HOGA1):c.834+1G>A
|
rs749315029
|
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
|
NM_138413.4(HOGA1):c.834G>T (p.Ala278=)
|
rs770050262
|
|
|
NM_138413.4(HOGA1):c.834_834+1delinsTT
|
rs1564760008
|
|
|
NM_138413.4(HOGA1):c.835-7T>A
|
rs768061627
|
|
|
NM_138413.4(HOGA1):c.844C>T (p.Arg282Cys)
|
|
|
|
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
|
|
|
|
NM_138413.4(HOGA1):c.85G>T (p.Glu29Ter)
|
|
|
|
NM_138413.4(HOGA1):c.860G>A (p.Gly287Glu)
|
|
|
|
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr)
|
rs1554875257
|
|
|
NM_138413.4(HOGA1):c.875T>C (p.Met292Thr)
|
rs796052087
|
|
|
NM_138413.4(HOGA1):c.881G>A (p.Trp294Ter)
|
|
|
|
NM_138413.4(HOGA1):c.895G>C (p.Gly299Arg)
|
|
|
|
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
|
|
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
|
NM_138413.4(HOGA1):c.926T>C (p.Leu309Pro)
|
|
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
|
NM_138413.4(HOGA1):c.940G>T (p.Glu314Ter)
|
|
|
|
NM_138501.6(TECR):c.545C>T (p.Pro182Leu)
|
rs199469705
|
|
|
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
|
|
|
|
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)
|
rs532327456
|
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
|
NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)
|
|
|
|
NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)
|
rs1591234203
|
|
|
NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)
|
|
|
|
NM_138775.3(ALKBH8):c.772-72_772-71del
|
rs5794554
|
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
|
|
|
NM_138801.3(GALM):c.244C>T (p.Arg82Ter)
|
rs115413295
|
|
|
NM_138801.3(GALM):c.294del (p.Ile99fs)
|
rs751902026
|
|
|
NM_138801.3(GALM):c.799C>G (p.Arg267Gly)
|
rs1229797646
|
|
|
NM_144563.3(RPIA):c.*134A>C
|
rs892159755
|
|
|
NM_144563.3(RPIA):c.*281A>G
|
rs1052569032
|
|
|
NM_144563.3(RPIA):c.*291del
|
rs113052379
|
|
|
NM_144563.3(RPIA):c.*599GTT[1]
|
rs371885783
|
|
|
NM_144563.3(RPIA):c.*635A>G
|
rs150350485
|
|
|
NM_144563.3(RPIA):c.*807C>G
|
rs886056426
|
|
|
NM_144563.3(RPIA):c.-17C>A
|
rs776488875
|
|
|
NM_144563.3(RPIA):c.177C>T (p.Ser59=)
|
rs1676938837
|
|
|
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
|
rs1399404493
|
|
|
NM_144563.3(RPIA):c.347-1G>A
|
rs1422698928
|
|
|
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)
|
rs760452079
|
|
|
NM_144563.3(RPIA):c.493G>A (p.Val165Ile)
|
rs886056422
|
|
|
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys)
|
rs1558699183
|
|
|
NM_144563.3(RPIA):c.633G>A (p.Lys211=)
|
rs72930711
|
|
|
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)
|
|
|
|
NM_144563.3(RPIA):c.738+18del
|
rs750253754
|
|
|
NM_144563.3(RPIA):c.762del (p.Asn255fs)
|
rs730880316
|
|
|
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr)
|
rs2104137690
|
|
|
NM_144976.4(ZNF564):c.4-9193_4-8037del
|
|
|
|
NM_145262.4(GLYCTK):c.1057del (p.His353fs)
|
rs1700517033
|
|
|
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)
|
rs1700426072
|
|
|
NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)
|
|
|
|
NM_145262.4(GLYCTK):c.1448del (p.Phe483fs)
|
rs121909447
|
|
|
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs)
|
rs121909449
|
|
|
NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser)
|
rs558300707
|
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
|
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)
|
rs1379123977
|
|
|
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)
|
rs1553621315
|
|
|
NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)
|
|
|
|
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)
|
rs2133768184
|
|
|
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
|
|
|
|
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)
|
|
|
|
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
|
|
|
|
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)
|
rs2133759109
|
|
|
NM_145886.4(PIDD1):c.2275-1G>A
|
rs2133753509
|
|
|
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)
|
rs1224174574
|
|
|
NM_152419.3(HGSNAT):c.*1026G>C
|
rs533282054
|
|
|
NM_152419.3(HGSNAT):c.*1086G>C
|
rs145370743
|
|
|
NM_152419.3(HGSNAT):c.*1100_*1103del
|
rs886062959
|
|
|
NM_152419.3(HGSNAT):c.*1204C>A
|
rs763225051
|
|
|
NM_152419.3(HGSNAT):c.*1214C>A
|
rs1250097718
|
|
|
NM_152419.3(HGSNAT):c.*1219G>A
|
rs989915640
|
|
|
NM_152419.3(HGSNAT):c.*1331T>A
|
rs543569352
|
|
|
NM_152419.3(HGSNAT):c.*1584A>G
|
rs1804905348
|
|
|
NM_152419.3(HGSNAT):c.*1696T>G
|
rs1278712308
|
|
|
NM_152419.3(HGSNAT):c.*1750C>T
|
rs886062961
|
|
|
NM_152419.3(HGSNAT):c.*1925A>G
|
rs1804916088
|
|
|
NM_152419.3(HGSNAT):c.*1942A>G
|
rs112626858
|
|
|
NM_152419.3(HGSNAT):c.*196T>G
|
rs886062956
|
|
|
NM_152419.3(HGSNAT):c.*2434G>A
|
rs1804930624
|
|
|
NM_152419.3(HGSNAT):c.*2620A>C
|
rs1804936973
|
|
|
NM_152419.3(HGSNAT):c.*2755C>T
|
rs76686222
|
|
|
NM_152419.3(HGSNAT):c.*2802C>G
|
rs187372766
|
|
|
NM_152419.3(HGSNAT):c.*2806G>C
|
rs541393074
|
|
|
NM_152419.3(HGSNAT):c.*2950A>G
|
rs1804948886
|
|
|
NM_152419.3(HGSNAT):c.*3044dup
|
rs886062965
|
|
|
NM_152419.3(HGSNAT):c.*574C>G
|
rs1804870887
|
|
|
NM_152419.3(HGSNAT):c.*581T>C
|
rs772452020
|
|
|
NM_152419.3(HGSNAT):c.*600C>T
|
rs377372501
|
|
|
NM_152419.3(HGSNAT):c.*612A>C
|
rs1325231089
|
|
|
NM_152419.3(HGSNAT):c.*857C>T
|
rs143991538
|
|
|
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+2dup
|
rs1554533241
|
|
|
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.1058_1059insT (p.Val354fs)
|
|
|
|
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.1170G>A (p.Trp390Ter)
|
rs1804526900
|
|
|
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)
|
rs748387885
|
|
|
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
|
rs1804527192
|
|
|
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.1358_1361del (p.Tyr453fs)
|
|
|
|
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.1378-1G>A
|
rs1804617510
|
|
|
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.1411G>T (p.Glu471Ter)
|
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.1457G>T (p.Gly486Val)
|
rs1804622640
|
|
|
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.1517G>A (p.Arg506Gln)
|
|
|
|
NM_152419.3(HGSNAT):c.1517_1523del (p.Arg506fs)
|
|
|
|
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+1G>A
|
rs1554537612
|
|
|
NM_152419.3(HGSNAT):c.1542+1G>C
|
rs1554537612
|
|
|
NM_152419.3(HGSNAT):c.1542+2T>G
|
rs1554537613
|
|
|
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.1567A>T (p.Lys523Ter)
|
rs73569592
|
|
|
NM_152419.3(HGSNAT):c.1575_1576del (p.Glu526fs)
|
|
|
|
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
|
rs1802738210
|
|
|
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.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
|
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.1856G>C (p.Trp619Ser)
|
rs1563388121
|
|
|
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter)
|
rs1554538302
|
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
|
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs)
|
rs1554538306
|
|
|
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.220G>T (p.Glu74Ter)
|
rs1802741140
|
|
|
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.268A>G (p.Ser90Gly)
|
rs764229375
|
|
|
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.283A>T (p.Lys95Ter)
|
rs1803167331
|
|
|
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.429_432delinsA (p.His143_Asn144delinsGln)
|
rs1554529803
|
|
|
NM_152419.3(HGSNAT):c.42C>A (p.Ala14=)
|
|
|
|
NM_152419.3(HGSNAT):c.42C>T (p.Ala14=)
|
|
|
|
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
|
rs1803182974
|
|
|
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.469G>T (p.Glu157Ter)
|
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.55_66dup (p.Ser19_Leu22dup)
|
rs1303048852
|
|
|
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.567_568delinsT (p.Leu189fs)
|
|
|
|
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.671_673dup (p.Gly224dup)
|
rs1554531686
|
|
|
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.716_720del (p.Arg239fs)
|
|
|
|
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.728dup (p.Asp244fs)
|
|
|
|
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.742G>A (p.Gly248Arg)
|
|
|
|
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+1del
|
rs1554531744
|
|
|
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.744-2A>G
|
rs762402992
|
|
|
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.784G>A (p.Gly262Arg)
|
rs1803654249
|
|
|
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
|
rs1803654249
|
|
|
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.819T>G (p.Asn273Lys)
|
rs1554532014
|
|
|
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.836A>C (p.Asp279Ala)
|
rs1085307112
|
|
|
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.851+1G>A
|
rs1554532283
|
|
|
NM_152419.3(HGSNAT):c.851+1G>T
|
rs1554532283
|
|
|
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.906A>T (p.Gln302His)
|
rs886062954
|
|
|
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.962T>G (p.Leu321Ter)
|
rs121908283
|
|
|
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_152419.3(HGSNAT):c.9_10insCG (p.Ala4fs)
|
rs1554526454
|
|
|
NM_152649.4(MLKL):c.565C>T (p.Pro189Ser)
|
|
|
|
NM_153281.2(HYAL1):c.-237A>T
|
rs1702408973
|
|
|
NM_153281.2(HYAL1):c.-310+12dup
|
rs886058696
|
|
|
NM_153281.2(HYAL1):c.-384G>A
|
rs886058698
|
|
|
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
|
|
|
|
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter)
|
rs375570541
|
|
|
NM_153747.2(PIGC):c.223A>G (p.Met75Val)
|
|
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
|
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)
|
rs786205667
|
|
|
NM_153747.2(PIGC):c.859G>T (p.Glu287Ter)
|
|
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
|
NM_175914.5(HNF4A):c.*1089del
|
rs749515492
|
|
|
NM_175914.5(HNF4A):c.*1106G>A
|
rs753675648
|
|
|
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]
|
rs3834658
|
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
|
NM_175914.5(HNF4A):c.*1809C>G
|
rs2063876979
|
|
|
NM_175914.5(HNF4A):c.*1826G>A
|
rs1763003018
|
|
|
NM_175914.5(HNF4A):c.*2167T>G
|
rs886056687
|
|
|
NM_175914.5(HNF4A):c.*217C>T
|
rs1019701119
|
|
|
NM_175914.5(HNF4A):c.*2256C>G
|
rs537829031
|
|
|
NM_175914.5(HNF4A):c.*226C>A
|
rs886056680
|
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
|
NM_175914.5(HNF4A):c.*2674_*2675del
|
rs886056691
|
|
|
NM_175914.5(HNF4A):c.*2676dup
|
rs886056692
|
|
|
NM_175914.5(HNF4A):c.*2677_*2683del
|
rs886056693
|
|
|
NM_175914.5(HNF4A):c.*2677dup
|
rs886056694
|
|
|
NM_175914.5(HNF4A):c.*2678_*2679insTT
|
rs761222838
|
|
|
NM_175914.5(HNF4A):c.*2678dup
|
rs761222838
|
|
|
NM_175914.5(HNF4A):c.*2679del
|
rs886056695
|
|
|
NM_175914.5(HNF4A):c.*2698_*2703dup
|
rs11450239
|
|
|
NM_175914.5(HNF4A):c.*2698_*2704del
|
rs886056697
|
|
|
NM_175914.5(HNF4A):c.*2703del
|
rs11450239
|
|
|
NM_175914.5(HNF4A):c.*2703dup
|
rs11450239
|
|
|
NM_175914.5(HNF4A):c.*2707del
|
rs886056698
|
|
|
NM_175914.5(HNF4A):c.*2707dup
|
rs886056699
|
|
|
NM_175914.5(HNF4A):c.*2761G>C
|
rs1212257046
|
|
|
NM_175914.5(HNF4A):c.*2761G>T
|
rs1212257046
|
|
|
NM_175914.5(HNF4A):c.*2777del
|
rs886056700
|
|
|
NM_175914.5(HNF4A):c.*2782A>C
|
rs1192263020
|
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
|
NM_175914.5(HNF4A):c.*3024C>T
|
rs886056702
|
|
|
NM_175914.5(HNF4A):c.*3052G>A
|
rs546761850
|
|
|
NM_175914.5(HNF4A):c.*3104A>C
|
rs886056703
|
|
|
NM_175914.5(HNF4A):c.*3142del
|
rs141563916
|
|
|
NM_175914.5(HNF4A):c.*35C>A
|
rs1019496764
|
|
|
NM_175914.5(HNF4A):c.*657G>A
|
rs3212209
|
|
|
NM_175914.5(HNF4A):c.*76G>T
|
rs11574743
|
|
|
NM_175914.5(HNF4A):c.*906A>C
|
rs3212210
|
|
|
NM_175914.5(HNF4A):c.*906A>T
|
rs3212210
|
|
|
NM_175914.5(HNF4A):c.*965G>T
|
rs886056683
|
|
|
NM_175914.5(HNF4A):c.*987G>T
|
rs886056684
|
|
|
NM_175914.5(HNF4A):c.*993G>A
|
rs2063867733
|
|
|
NM_175914.5(HNF4A):c.-181G>A
|
rs2146126966
|
|
|
NM_175914.5(HNF4A):c.-181G>C
|
rs2146126966
|
|
|
NM_175914.5(HNF4A):c.100del (p.Val34fs)
|
rs1555813267
|
|
|
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)
|
rs2063496235
|
|
|
NM_175914.5(HNF4A):c.1033G>T (p.Asp345Tyr)
|
|
|
|
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg)
|
rs137853338
|
|
|
NM_175914.5(HNF4A):c.1052_1053dup (p.Leu352fs)
|
rs2063787705
|
|
|
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg)
|
rs1568741527
|
|
|
NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg)
|
|
|
|
NM_175914.5(HNF4A):c.1064-1G>T
|
|
|
|
NM_175914.5(HNF4A):c.1086dup (p.Ala363fs)
|
|
|
|
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
|
|
|
|
NM_175914.5(HNF4A):c.111G>T (p.Leu37=)
|
rs2063496608
|
|
|
NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg)
|
rs199956600
|
|
|
NM_175914.5(HNF4A):c.114T>C (p.Cys38=)
|
|
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
|
NM_175914.5(HNF4A):c.1259G>A (p.Gly420Glu)
|
rs2063851984
|
|
|
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)
|
|
|
|
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)
|
rs530389600
|
|
|
NM_175914.5(HNF4A):c.1293C>T (p.Val431=)
|
|
|
|
NM_175914.5(HNF4A):c.1305C>G (p.Val435=)
|
|
|
|
NM_175914.5(HNF4A):c.179G>T (p.Gly60Val)
|
rs2146368271
|
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
|
NM_175914.5(HNF4A):c.188G>A (p.Arg63Gln)
|
rs1057517745
|
|
|
NM_175914.5(HNF4A):c.194G>T (p.Ser65Ile)
|
|
|
|
NM_175914.5(HNF4A):c.195C>T (p.Ser65=)
|
rs1008906897
|
|
|
NM_175914.5(HNF4A):c.1del (p.Met1fs)
|
rs2146127577
|
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
|
NM_175914.5(HNF4A):c.201del (p.Lys68fs)
|
rs1385251852
|
|
|
NM_175914.5(HNF4A):c.221G>A (p.Cys74Tyr)
|
rs1555813342
|
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
|
NM_175914.5(HNF4A):c.224+1G>A
|
rs1600707958
|
|
|
NM_175914.5(HNF4A):c.224+288G>C
|
rs3212184
|
|
|
NM_175914.5(HNF4A):c.224+2T>C
|
rs1057524790
|
|
|
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)
|
rs1131692187
|
|
|
NM_175914.5(HNF4A):c.225-3C>A
|
|
|
|
NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)
|
|
|
|
NM_175914.5(HNF4A):c.265C>T (p.Gln89Ter)
|
rs1568724014
|
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
|
NM_175914.5(HNF4A):c.282G>A (p.Arg94=)
|
rs1463516865
|
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
|
NM_175914.5(HNF4A):c.300G>T (p.Arg100=)
|
|
|
|
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
|
|
|
|
NM_175914.5(HNF4A):c.319+2T>C
|
rs1600710669
|
|
|
NM_175914.5(HNF4A):c.319G>C (p.Ala107Pro)
|
rs2063517684
|
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
|
NM_175914.5(HNF4A):c.352C>T (p.Arg118Ter)
|
rs2146412136
|
|
|
NM_175914.5(HNF4A):c.3G>A (p.Met1Ile)
|
rs2146127594
|
|
|
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)
|
rs1555815158
|
|
|
NM_175914.5(HNF4A):c.407C>T (p.Ala136Val)
|
|
|
|
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter)
|
rs137853335
|
|
|
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)
|
rs765237979
|
|
|
NM_175914.5(HNF4A):c.426+7G>C
|
rs1600723028
|
|
|
NM_175914.5(HNF4A):c.426G>A (p.Gln142=)
|
|
|
|
NM_175914.5(HNF4A):c.426G>C (p.Gln142His)
|
|
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
|
NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)
|
|
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
|
NM_175914.5(HNF4A):c.476T>C (p.Ile159Thr)
|
|
|
|
NM_175914.5(HNF4A):c.47dup (p.Tyr16Ter)
|
rs2146127847
|
|
|
NM_175914.5(HNF4A):c.48C>A (p.Tyr16Ter)
|
rs2146127862
|
|
|
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter)
|
rs2146127862
|
|
|
NM_175914.5(HNF4A):c.49+1G>T
|
|
|
|
NM_175914.5(HNF4A):c.498T>A (p.Cys166Ter)
|
rs1555815393
|
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
|
NM_175914.5(HNF4A):c.50-4560G>T
|
rs1254732171
|
|
|
NM_175914.5(HNF4A):c.50-4589G>A
|
|
|
|
NM_175914.5(HNF4A):c.50-4630T>C
|
rs2063407237
|
|
|
NM_175914.5(HNF4A):c.50-4682C>T
|
|
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
|
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
|
|
|
|
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)
|
rs1555815396
|
|
|
NM_175914.5(HNF4A):c.530T>C (p.Val177Ala)
|
rs2146417574
|
|
|
NM_175914.5(HNF4A):c.537G>A (p.Trp179Ter)
|
|
|
|
NM_175914.5(HNF4A):c.537G>C (p.Trp179Cys)
|
|
|
|
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro)
|
rs193922474
|
|
|
NM_175914.5(HNF4A):c.575_582+10del
|
rs193922475
|
|
|
NM_175914.5(HNF4A):c.582+1G>A
|
rs1392795567
|
|
|
NM_175914.5(HNF4A):c.583-1G>C
|
|
|
|
NM_175914.5(HNF4A):c.583-2del
|
rs1600731198
|
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
|
NM_175914.5(HNF4A):c.590T>C (p.Leu197Pro)
|
rs1555816279
|
|
|
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg)
|
rs1568735272
|
|
|
NM_175914.5(HNF4A):c.595A>C (p.Arg199=)
|
|
|
|
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)
|
rs2146437968
|
|
|
NM_175914.5(HNF4A):c.610G>A (p.Glu204Lys)
|
rs753476712
|
|
|
NM_175914.5(HNF4A):c.614A>C (p.His205Pro)
|
rs2146438016
|
|
|
NM_175914.5(HNF4A):c.622C>T (p.Leu208Phe)
|
|
|
|
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr)
|
rs1060499693
|
|
|
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
|
|
|
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
|
rs193922476
|
|
|
NM_175914.5(HNF4A):c.670+18C>A
|
rs751211080
|
|
|
NM_175914.5(HNF4A):c.670+5G>C
|
rs1568735505
|
|
|
NM_175914.5(HNF4A):c.677A>T (p.Asp226Val)
|
|
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
|
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
|
|
|
NM_175914.5(HNF4A):c.724del (p.Val242fs)
|
rs1555816642
|
|
|
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro)
|
rs1555816654
|
|
|
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)
|
rs137853334
|
|
|
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter)
|
rs137853334
|
|
|
NM_175914.5(HNF4A):c.778G>A (p.Asp260Asn)
|
|
|
|
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr)
|
rs1236613475
|
|
|
NM_175914.5(HNF4A):c.787G>C (p.Glu263Gln)
|
|
|
|
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp)
|
rs1568736971
|
|
|
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
|
|
|
|
NM_175914.5(HNF4A):c.823C>T (p.Pro275Ser)
|
|
|
|
NM_175914.5(HNF4A):c.826+169A>G
|
rs3212201
|
|
|
NM_175914.5(HNF4A):c.827-1G>A
|
rs2146467548
|
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
|
NM_175914.5(HNF4A):c.912C>A (p.Arg304=)
|
rs760811566
|
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
|
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)
|
rs193922480
|
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
|
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg)
|
rs2146468685
|
|
|
NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln)
|
rs1568741207
|
|
|
NM_175914.5(HNF4A):c.956T>C (p.Leu319Pro)
|
rs2063786151
|
|
|
NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp)
|
rs2146468795
|
|
|
NM_175914.5(HNF4A):c.968del (p.Gln323fs)
|
rs1555817851
|
|
|
NM_175914.5(HNF4A):c.981G>A (p.Trp327Ter)
|
|
|
|
NM_175914.5(HNF4A):c.990C>T (p.Ile330=)
|
|
|
|
NM_178161.3(PTF1A):c.*126_*129del
|
rs533517653
|
|
|
NM_178161.3(PTF1A):c.*157GAT[1]
|
rs149560393
|
|
|
NM_178161.3(PTF1A):c.784+1G>A
|
|
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
|
|
|
NM_181503.3(EXOSC8):c.55-10_55-9del
|
rs144158336
|
|
|
NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val)
|
rs606231285
|
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
|
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)
|
rs1554147220
|
|
|
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)
|
rs1567502487
|
|
|
NM_198150.3(ARSK):c.1251C>G (p.Tyr417Ter)
|
|
|
|
NM_198150.3(ARSK):c.1312C>T (p.Gln438Ter)
|
|
|
|
NM_198150.3(ARSK):c.560T>A (p.Leu187Ter)
|
rs762342379
|
|
|
NM_198586.3(NHLRC1):c.*153A>T
|
rs895212001
|
|
|
NM_198586.3(NHLRC1):c.*175T>C
|
rs1783727115
|
|
|
NM_198586.3(NHLRC1):c.*248C>A
|
rs182779486
|
|
|
NM_198586.3(NHLRC1):c.*248C>G
|
rs182779486
|
|
|
NM_198586.3(NHLRC1):c.*327G>C
|
rs375143655
|
|
|
NM_198586.3(NHLRC1):c.*358_*361del
|
rs550375620
|
|
|
NM_198586.3(NHLRC1):c.*406A>G
|
rs886061251
|
|
|
NM_198586.3(NHLRC1):c.*482C>G
|
rs114713758
|
|
|
NM_198586.3(NHLRC1):c.*55G>C
|
rs11966789
|
|
|
NM_198586.3(NHLRC1):c.*662C>G
|
rs150615281
|
|
|
NM_198586.3(NHLRC1):c.*875T>A
|
rs72839174
|
|
|
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
|
|
|
|
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)
|
rs781739043
|
|
|
NM_198586.3(NHLRC1):c.1036T>C (p.Leu346=)
|
rs2150702721
|
|
|
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
|
rs1783733675
|
|
|
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser)
|
rs1783733228
|
|
|
NM_198586.3(NHLRC1):c.1065G>C (p.Pro355=)
|
rs752799460
|
|
|
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
|
rs764691077
|
|
|
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
|
rs764691077
|
|
|
NM_198586.3(NHLRC1):c.108G>A (p.Arg36=)
|
rs903344687
|
|
|
NM_198586.3(NHLRC1):c.1091C>A (p.Ser364Ter)
|
rs78324544
|
|
|
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
|
|
|
|
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
|
rs1422730903
|
|
|
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)
|
rs771702699
|
|
|
NM_198586.3(NHLRC1):c.1120G>T (p.Glu374Ter)
|
|
|
|
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
|
rs1783731105
|
|
|
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)
|
rs753959228
|
|
|
NM_198586.3(NHLRC1):c.1185G>A (p.Gly395=)
|
rs760726977
|
|
|
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
|
|
|
|
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
|
|
|
|
NM_198586.3(NHLRC1):c.123G>A (p.Pro41=)
|
rs1161024300
|
|
|
NM_198586.3(NHLRC1):c.123G>C (p.Pro41=)
|
rs1161024300
|
|
|
NM_198586.3(NHLRC1):c.126C>T (p.Arg42=)
|
|
|
|
NM_198586.3(NHLRC1):c.129C>T (p.Asn43=)
|
rs1438368642
|
|
|
NM_198586.3(NHLRC1):c.135C>G (p.Ser45=)
|
rs2150703342
|
|
|
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
|
|
|
|
NM_198586.3(NHLRC1):c.138C>T (p.Cys46=)
|
rs1489142985
|
|
|
NM_198586.3(NHLRC1):c.147G>A (p.Val49=)
|
|
|
|
NM_198586.3(NHLRC1):c.150C>T (p.Val50=)
|
|
|
|
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
|
|
|
|
NM_198586.3(NHLRC1):c.171C>T (p.Ala57=)
|
rs2150703320
|
|
|
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
|
|
|
|
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
|
rs1783757283
|
|
|
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)
|
rs761458140
|
|
|
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His)
|
rs796052754
|
|
|
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
|
NM_198586.3(NHLRC1):c.195C>T (p.Ala65=)
|
rs370573413
|
|
|
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys)
|
rs779507031
|
|
|
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
|
rs1783756475
|
|
|
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
|
rs1582030466
|
|
|
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu)
|
rs1280991443
|
|
|
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
|
|
|
|
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
|
|
|
|
NM_198586.3(NHLRC1):c.228G>T (p.Arg76=)
|
rs1409114977
|
|
|
NM_198586.3(NHLRC1):c.230del (p.Gly77fs)
|
|
|
|
NM_198586.3(NHLRC1):c.234C>T (p.Cys78=)
|
rs755232826
|
|
|
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)
|
rs2150703425
|
|
|
NM_198586.3(NHLRC1):c.243C>T (p.Ser81=)
|
rs1174745955
|
|
|
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
|
rs1582030401
|
|
|
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
|
|
|
|
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
|
|
|
|
NM_198586.3(NHLRC1):c.276C>G (p.Leu92=)
|
rs1203128687
|
|
|
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu)
|
rs1340355518
|
|
|
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser)
|
rs1484414595
|
|
|
NM_198586.3(NHLRC1):c.303G>A (p.Pro101=)
|
rs187783545
|
|
|
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
|
rs568131096
|
|
|
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu)
|
rs1166657109
|
|
|
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly)
|
rs1255416149
|
|
|
NM_198586.3(NHLRC1):c.318C>T (p.Ala106=)
|
rs2150703205
|
|
|
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)
|
rs796052755
|
|
|
NM_198586.3(NHLRC1):c.321C>T (p.Ala107=)
|
rs772440533
|
|
|
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
|
rs1783752059
|
|
|
NM_198586.3(NHLRC1):c.336A>G (p.Gly112=)
|
|
|
|
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)
|
rs2150703412
|
|
|
NM_198586.3(NHLRC1):c.354C>T (p.His118=)
|
rs2150703182
|
|
|
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile)
|
rs1783751214
|
|
|
NM_198586.3(NHLRC1):c.360C>T (p.Phe120=)
|
rs754279385
|
|
|
NM_198586.3(NHLRC1):c.368G>A (p.Trp123Ter)
|
rs1783750860
|
|
|
NM_198586.3(NHLRC1):c.372G>A (p.Gly124=)
|
|
|
|
NM_198586.3(NHLRC1):c.372G>C (p.Gly124=)
|
|
|
|
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.378G>C (p.Leu126=)
|
|
|
|
NM_198586.3(NHLRC1):c.37_38insTC (p.His13fs)
|
rs1217276014
|
|
|
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)
|
rs967125703
|
|
|
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
|
rs1783749949
|
|
|
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)
|
rs1367848969
|
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
|
NM_198586.3(NHLRC1):c.399G>T (p.Ala133=)
|
rs1382326927
|
|
|
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln)
|
rs2150703410
|
|
|
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)
|
rs1561882043
|
|
|
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
|
rs1783749565
|
|
|
NM_198586.3(NHLRC1):c.414G>C (p.Thr138=)
|
|
|
|
NM_198586.3(NHLRC1):c.423C>G (p.Val141=)
|
|
|
|
NM_198586.3(NHLRC1):c.423_425del (p.Val144del)
|
rs1783748374
|
|
|
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro)
|
rs1783748075
|
|
|
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
|
rs200559475
|
|
|
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His)
|
rs749599233
|
|
|
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
|
|
|
|
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
|
|
|
|
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn)
|
rs2150703098
|
|
|
NM_198586.3(NHLRC1):c.45C>A (p.Leu15=)
|
rs770992577
|
|
|
NM_198586.3(NHLRC1):c.462dup (p.Asp155Ter)
|
rs1157872508
|
|
|
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
|
|
|
|
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
|
rs781300542
|
|
|
NM_198586.3(NHLRC1):c.483G>A (p.Ala161=)
|
rs1783746446
|
|
|
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
|
rs1217974765
|
|
|
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)
|
rs1554136449
|
|
|
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys)
|
rs796052757
|
|
|
NM_198586.3(NHLRC1):c.507C>T (p.Asp169=)
|
|
|
|
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
|
rs1783745635
|
|
|
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
|
|
|
|
NM_198586.3(NHLRC1):c.519del (p.Asp173fs)
|
|
|
|
NM_198586.3(NHLRC1):c.525G>A (p.Arg175=)
|
rs1414840416
|
|
|
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
|
rs1403101337
|
|
|
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys)
|
rs771805307
|
|
|
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)
|
rs886061253
|
|
|
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
|
|
|
|
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
|
|
|
|
NM_198586.3(NHLRC1):c.558_562del (p.His187fs)
|
|
|
|
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
|
|
|
|
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
|
rs1194084403
|
|
|
NM_198586.3(NHLRC1):c.583del (p.Asp195fs)
|
rs2150703022
|
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
|
NM_198586.3(NHLRC1):c.612del (p.Phe204fs)
|
rs1171412241
|
|
|
NM_198586.3(NHLRC1):c.618G>A (p.Gln206=)
|
rs747084695
|
|
|
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
|
|
|
|
NM_198586.3(NHLRC1):c.630C>A (p.Val210=)
|
rs2150702986
|
|
|
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser)
|
rs1783743169
|
|
|
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His)
|
rs754756237
|
|
|
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
|
|
|
|
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)
|
rs1449381352
|
|
|
NM_198586.3(NHLRC1):c.670_673del (p.Thr224fs)
|
rs2150702964
|
|
|
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu)
|
rs1783742476
|
|
|
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)
|
rs1060503098
|
|
|
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn)
|
rs371640803
|
|
|
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
|
|
|
|
NM_198586.3(NHLRC1):c.69G>A (p.Leu23=)
|
rs1170288661
|
|
|
NM_198586.3(NHLRC1):c.702G>A (p.Ala234=)
|
|
|
|
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
|
rs1173727000
|
|
|
NM_198586.3(NHLRC1):c.705G>A (p.Glu235=)
|
rs1783741826
|
|
|
NM_198586.3(NHLRC1):c.711G>T (p.Gly237=)
|
|
|
|
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
|
rs747276703
|
|
|
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu)
|
rs146420615
|
|
|
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn)
|
rs2150702925
|
|
|
NM_198586.3(NHLRC1):c.738C>T (p.Phe246=)
|
rs1561881781
|
|
|
NM_198586.3(NHLRC1):c.742G>T (p.Glu248Ter)
|
rs750055958
|
|
|
NM_198586.3(NHLRC1):c.742del (p.Glu248fs)
|
|
|
|
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
|
|
|
|
NM_198586.3(NHLRC1):c.747G>A (p.Gly249=)
|
rs1582029822
|
|
|
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
|
rs1244886517
|
|
|
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
|
|
|
|
NM_198586.3(NHLRC1):c.756G>A (p.Arg252=)
|
rs2150702898
|
|
|
NM_198586.3(NHLRC1):c.757A>C (p.Arg253=)
|
|
|
|
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
|
|
|
|
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)
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NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
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rs1783740022
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NM_198586.3(NHLRC1):c.793C>T (p.Arg265Ter)
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rs121917875
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NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
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NM_198586.3(NHLRC1):c.799del (p.Val267fs)
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rs1362520746
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NM_198586.3(NHLRC1):c.799dup (p.Val267fs)
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rs1362520746
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NM_198586.3(NHLRC1):c.807G>A (p.Val269=)
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NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)
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rs2150702863
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NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
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rs568213488
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NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg)
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rs568213488
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NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
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NM_198586.3(NHLRC1):c.831G>A (p.Ala277=)
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NM_198586.3(NHLRC1):c.831G>C (p.Ala277=)
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rs556216487
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NM_198586.3(NHLRC1):c.831G>T (p.Ala277=)
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rs556216487
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NM_198586.3(NHLRC1):c.837G>A (p.Leu279=)
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NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg)
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rs2150702844
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NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)
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rs2150702844
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NM_198586.3(NHLRC1):c.865_880del (p.Gly288_Val289insTer)
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rs1193841505
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NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
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NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
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rs1783736655
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NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
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NM_198586.3(NHLRC1):c.923A>C (p.Asp308Ala)
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rs137852859
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NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
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NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)
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rs2150702790
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NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
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NM_198586.3(NHLRC1):c.969C>A (p.Ser323=)
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NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
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NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys)
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rs757759398
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NM_198586.3(NHLRC1):c.992del (p.Gly331fs)
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rs587776543
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NM_198586.3(NHLRC1):c.9C>G (p.Ala3=)
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NM_213606.4(SLC16A12):c.733C>T (p.Gln245Ter)
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rs121909386
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NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)
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rs1564568302
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PCK1, 12-BP DEL, NT369
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PKLR, 1-BP DEL
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SLC17A5, 500-BP INS, NT978
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SLC2A2, 1-BP INS, 793C
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Single allele
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c.2475-2A-G
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c.[708G>C]+[784C>T]
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c.[c.38dupA]+[1571G>A]
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p.X466Trp
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t(1;11)(p36.32;q13.2)
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