NM_005050.4(ABCD4):c.1753-46A>G
|
rs929449
|
0.99998
|
NM_001081.4(CUBN):c.8150C>G (p.Ser2717Trp)
|
rs2796835
|
0.99996
|
NM_001081.4(CUBN):c.6485G>A (p.Cys2162Tyr)
|
rs1276712
|
0.99748
|
NM_015702.3(MMADHC):c.*89T>C
|
rs6742604
|
0.99742
|
NM_001081.4(CUBN):c.593+33dup
|
rs11409967
|
0.95095
|
NM_001081.4(CUBN):c.594-34G>A
|
rs2295813
|
0.91875
|
NM_001081.4(CUBN):c.123-16C>G
|
rs2281648
|
0.87635
|
NM_001081.4(CUBN):c.2791+130G>A
|
rs4747297
|
0.86168
|
NM_001081.4(CUBN):c.2791+9C>T
|
rs10795440
|
0.85809
|
NM_001081.4(CUBN):c.6463-22A>C
|
rs1276713
|
0.83410
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
NM_001081.4(CUBN):c.7912+25T>C
|
rs780807
|
0.76044
|
NM_001081.4(CUBN):c.10180+30A>G
|
rs703062
|
0.75316
|
NM_001081.4(CUBN):c.8905+137T>A
|
rs780847
|
0.75177
|
NM_001081.4(CUBN):c.4563T>A (p.Ile1521=)
|
rs1801229
|
0.73095
|
NM_001081.4(CUBN):c.4675C>T (p.Pro1559Ser)
|
rs1801231
|
0.73090
|
NM_181697.3(PRDX1):c.107-33A>G
|
rs2356559
|
0.73044
|
NM_001081.4(CUBN):c.758T>C (p.Phe253Ser)
|
rs1801222
|
0.72079
|
NM_000254.3(MTR):c.3711+15G>T
|
rs3820571
|
0.70934
|
NM_001081.4(CUBN):c.9843A>G (p.Thr3281=)
|
rs703064
|
0.70381
|
NM_015702.3(MMADHC):c.479-22G>C
|
rs12232959
|
0.66236
|
NM_000355.3(TCN2):c.-181A>G
|
rs2240433
|
0.64970
|
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro)
|
rs1801198
|
0.63049
|
NM_000355.4(TCN2):c.754-31T>C
|
rs2267163
|
0.63034
|
NM_052845.4(MMAB):c.348+105T>C
|
rs10850380
|
0.58164
|
NM_052845.4(MMAB):c.584+254A>G
|
rs2058805
|
0.58162
|
NM_001081.4(CUBN):c.1165C>A (p.Pro389Thr)
|
rs1801224
|
0.57919
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_052845.4(MMAB):c.*1230G>T
|
rs11067231
|
0.57792
|
NM_052845.4(MMAB):c.*857G>C
|
rs877710
|
0.57567
|
NM_018368.4(LMBRD1):c.*341C>T
|
rs9185
|
0.56654
|
NM_000254.3(MTR):c.3576C>T (p.Leu1192=)
|
rs1131449
|
0.54121
|
NM_172250.3(MMAA):c.*2608T>C
|
rs7699187
|
0.51441
|
NM_172250.3(MMAA):c.*2768A>T
|
rs7699166
|
0.51403
|
NM_001081.4(CUBN):c.5856A>G (p.Ser1952=)
|
rs1801234
|
0.50897
|
NM_015702.3(MMADHC):c.*126A>G
|
rs6923
|
0.49161
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44947
|
NM_015506.3(MMACHC):c.321G>A (p.Val107=)
|
rs2275276
|
0.43226
|
NM_000254.3(MTR):c.2474-18T>A
|
rs10925256
|
0.42308
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
NM_018368.4(LMBRD1):c.1509+22G>A
|
rs3214021
|
0.35441
|
NM_000254.3(MTR):c.3492C>A (p.Arg1164=)
|
rs12070777
|
0.34762
|
NM_000254.3(MTR):c.3144A>G (p.Ala1048=)
|
rs2229276
|
0.34551
|
NM_001081.4(CUBN):c.2487G>A (p.Ser829=)
|
rs1801225
|
0.34517
|
NM_001081.4(CUBN):c.*601A>G
|
rs780635
|
0.33593
|
NM_052845.4(MMAB):c.*2701G>C
|
rs2241201
|
0.33323
|
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)
|
rs12648
|
0.32715
|
NM_052845.4(MMAB):c.290+63T>C
|
rs11836136
|
0.32654
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
NM_052845.4(MMAB):c.57C>A (p.Arg19=)
|
rs10774774
|
0.31358
|
NM_052845.4(MMAB):c.56G>A (p.Arg19His)
|
rs10774775
|
0.31347
|
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)
|
rs1802059
|
0.31218
|
NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr)
|
rs4148077
|
0.30526
|
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)
|
rs3742801
|
0.30506
|
NM_030943.4(AMN):c.1170-37C>G
|
rs148815688
|
0.29891
|
NM_005050.4(ABCD4):c.981C>A (p.Leu327=)
|
rs4148078
|
0.29827
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
NM_001062.4(TCN1):c.846C>T (p.Ser282=)
|
rs1042613
|
0.29591
|
NM_172250.3(MMAA):c.734-74G>A
|
rs11721510
|
0.28813
|
NM_000254.3(MTR):c.2594+15T>C
|
rs1770449
|
0.27320
|
NM_000355.4(TCN2):c.*444C>T
|
rs10418
|
0.26603
|
NM_052845.4(MMAB):c.*3148G>A
|
rs11067227
|
0.24433
|
NM_052845.4(MMAB):c.*625G>C
|
rs11067233
|
0.24420
|
NM_052845.4(MMAB):c.*891C>A
|
rs877709
|
0.24416
|
NM_172250.3(MMAA):c.*2866A>G
|
rs17020500
|
0.22820
|
NM_002454.3(MTRR):c.284-64C>G
|
rs2303079
|
0.22681
|
NM_015506.3(MMACHC):c.*279A>G
|
rs9729395
|
0.22677
|
NM_002454.3(MTRR):c.781-80G>A
|
rs162035
|
0.22379
|
NM_001081.4(CUBN):c.939C>T (p.Asn313=)
|
rs1801223
|
0.21191
|
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly)
|
rs1805087
|
0.21137
|
NM_002454.3(MTRR):c.537T>C (p.Leu179=)
|
rs161870
|
0.20980
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
NM_005334.3(HCFC1):c.1085-22C>G
|
rs17421
|
0.19150
|
NM_001081.4(CUBN):c.5343-8C>A
|
rs2271463
|
0.19092
|
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)
|
rs10380
|
0.18188
|
NM_002454.3(MTRR):c.1557+54T>C
|
rs16879356
|
0.17987
|
NM_001081.4(CUBN):c.6124+8C>T
|
rs2271461
|
0.17332
|
NM_052845.4(MMAB):c.*1535G>A
|
rs34921355
|
0.17160
|
NM_052845.4(MMAB):c.*2835T>C
|
rs12817689
|
0.17090
|
NM_052845.4(MMAB):c.*2684G>C
|
rs35145546
|
0.16925
|
NM_001081.4(CUBN):c.9030T>C (p.Ala3010=)
|
rs1801241
|
0.16648
|
NM_002454.2(MTRR):c.-119T>C
|
rs72716536
|
0.16355
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
NM_000355.4(TCN2):c.753+45_753+46del
|
rs139588634
|
0.15769
|
NM_016579.4(CD320):c.23A>G (p.Gln8Arg)
|
rs2232775
|
0.15598
|
NM_000254.3(MTR):c.3712-8T>C
|
rs12022937
|
0.15072
|
NM_000355.3(TCN2):c.-250C>T
|
rs5753231
|
0.14215
|
NM_000355.4(TCN2):c.*127C>T
|
rs12160073
|
0.13925
|
NM_000355.4(TCN2):c.*82C>T
|
rs12169610
|
0.13762
|
NM_000355.4(TCN2):c.67A>G (p.Ile23Val)
|
rs9606756
|
0.13702
|
NM_001081.4(CUBN):c.4970-22A>C
|
rs74668791
|
0.13460
|
NM_001081.4(CUBN):c.5803A>G (p.Ser1935Gly)
|
rs41289305
|
0.13356
|
NM_001081.4(CUBN):c.9005A>G (p.Glu3002Gly)
|
rs1801240
|
0.13166
|
NM_001081.4(CUBN):c.6459G>C (p.Leu2153Phe)
|
rs62619939
|
0.12797
|
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe)
|
rs9621049
|
0.12714
|
NM_000355.4(TCN2):c.*225A>T
|
rs2072195
|
0.12516
|
NM_001081.4(CUBN):c.*134G>A
|
rs780636
|
0.12332
|
NM_000355.4(TCN2):c.941-21G>A
|
rs2283873
|
0.12200
|
NM_016579.4(CD320):c.268+19T>G
|
rs2232780
|
0.12049
|
NM_016579.4(CD320):c.447G>T (p.Thr149=)
|
rs2232783
|
0.12037
|
NM_016579.4(CD320):c.483C>T (p.Ser161=)
|
rs2232784
|
0.12037
|
NM_016579.4(CD320):c.658G>A (p.Gly220Arg)
|
rs2336573
|
0.12012
|
NM_016579.4(CD320):c.837C>G (p.Thr279=)
|
rs2227289
|
0.11348
|
NM_052845.4(MMAB):c.*1467C>T
|
rs1061440
|
0.10807
|
NM_052845.4(MMAB):c.*192T>C
|
rs8228
|
0.10802
|
NM_052845.4(MMAB):c.*1952T>C
|
rs61940463
|
0.10789
|
NM_052845.4(MMAB):c.*1810G>A
|
rs73414076
|
0.10702
|
NM_005142.3(CBLIF):c.68A>G (p.Gln23Arg)
|
rs35211634
|
0.09973
|
NM_001081.4(CUBN):c.3522C>T (p.Gly1174=)
|
rs1873469
|
0.09173
|
NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr)
|
rs34324219
|
0.09123
|
NM_052845.4(MMAB):c.*721T>G
|
rs11831226
|
0.09002
|
NM_016579.4(CD320):c.707-15A>T
|
rs250511
|
0.08768
|
NM_052845.4(MMAB):c.*378T>A
|
rs66497319
|
0.08528
|
NM_001081.4(CUBN):c.7662A>G (p.Pro2554=)
|
rs3740165
|
0.08317
|
NM_001081.4(CUBN):c.2188C>T (p.His730Tyr)
|
rs7905349
|
0.08051
|
NM_172250.3(MMAA):c.747G>A (p.Ser249=)
|
rs11721553
|
0.07844
|
NM_001081.4(CUBN):c.8950A>G (p.Ile2984Val)
|
rs1801239
|
0.07706
|
NM_052845.4(MMAB):c.584+24A>G
|
rs78599682
|
0.07555
|
NM_172250.3(MMAA):c.*3621G>A
|
rs55770806
|
0.07335
|
NM_001081.4(CUBN):c.5518G>A (p.Gly1840Ser)
|
rs2271462
|
0.07196
|
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp)
|
rs35838082
|
0.07162
|
NM_001081.4(CUBN):c.5134C>T (p.Leu1712=)
|
rs2271468
|
0.07161
|
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg)
|
rs58272575
|
0.07062
|
NM_005050.4(ABCD4):c.1560-12A>C
|
rs74061802
|
0.06985
|
NM_005050.4(ABCD4):c.668+7C>T
|
rs61757464
|
0.06982
|
NM_005050.4(ABCD4):c.1636+10C>T
|
rs74061801
|
0.06981
|
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val)
|
rs61744947
|
0.06981
|
NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)
|
rs57773157
|
0.06977
|
NM_005050.4(ABCD4):c.492C>G (p.Leu164=)
|
rs36031534
|
0.06974
|
NM_005050.4(ABCD4):c.1302G>A (p.Leu434=)
|
rs11845976
|
0.06972
|
NM_005050.4(ABCD4):c.815-13G>C
|
rs74063815
|
0.06964
|
NM_005050.4(ABCD4):c.858C>T (p.Tyr286=)
|
rs1052000
|
0.06963
|
NM_001081.4(CUBN):c.10295C>G (p.Thr3432Ser)
|
rs7898873
|
0.06787
|
NM_052845.4(MMAB):c.*656C>A
|
rs11067232
|
0.06631
|
NM_172250.3(MMAA):c.-56A>G
|
rs4835011
|
0.06388
|
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile)
|
rs34992370
|
0.06330
|
NM_052845.4(MMAB):c.*1729A>C
|
rs559163901
|
0.06277
|
NM_001081.4(CUBN):c.618C>T (p.Tyr206=)
|
rs41289313
|
0.06126
|
NM_001081.4(CUBN):c.1245T>C (p.Gly415=)
|
rs12571671
|
0.05965
|
NM_005142.3(CBLIF):c.246C>T (p.Ser82=)
|
rs35792306
|
0.05846
|
NM_001081.4(CUBN):c.5304C>T (p.Ile1768=)
|
rs61841454
|
0.05795
|
NM_052845.4(MMAB):c.*376T>A
|
rs527861371
|
0.05729
|
NM_000254.3(MTR):c.340-6C>T
|
rs7526063
|
0.05512
|
NM_052845.4(MMAB):c.*1005A>G
|
rs67432283
|
0.05428
|
NM_052845.4(MMAB):c.*1409G>A
|
rs72650177
|
0.05424
|
NM_052845.4(MMAB):c.135-23T>C
|
rs66580225
|
0.05340
|
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln)
|
rs4820889
|
0.05200
|
NM_052845.4(MMAB):c.*1657G>A
|
rs111869218
|
0.05172
|
NM_001081.4(CUBN):c.7913-11A>G
|
rs7088988
|
0.05036
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
NM_001081.4(CUBN):c.2792-18T>A
|
rs10904871
|
0.05019
|
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)
|
rs35219601
|
0.04960
|
NM_172250.3(MMAA):c.1089G>C (p.Gln363His)
|
rs2270655
|
0.04892
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
NM_016579.4(CD320):c.142+10G>C
|
rs2232776
|
0.04348
|
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)
|
rs2287780
|
0.04230
|
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)
|
rs2287779
|
0.04224
|
NM_052845.4(MMAB):c.288T>C (p.Ile96=)
|
rs62000414
|
0.04206
|
NM_172250.3(MMAA):c.*2142T>C
|
rs72723824
|
0.03954
|
NM_172250.3(MMAA):c.*2658G>A
|
rs72723825
|
0.03953
|
NM_002454.3(MTRR):c.903+518T>A
|
rs77578255
|
0.03893
|
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)
|
rs16879334
|
0.03856
|
NM_001081.4(CUBN):c.109A>C (p.Ile37Leu)
|
rs76788243
|
0.03753
|
NM_172250.3(MMAA):c.*306T>A
|
rs74409983
|
0.03738
|
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser)
|
rs1131603
|
0.03712
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)
|
rs1051151
|
0.03295
|
NM_001062.4(TCN1):c.104G>A (p.Arg35His)
|
rs34528912
|
0.03247
|
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)
|
rs2303080
|
0.03048
|
NM_002454.3(MTRR):c.1676+20A>G
|
rs2303082
|
0.03042
|
NM_172250.3(MMAA):c.*3285G>A
|
rs142885287
|
0.03017
|
NM_005334.3(HCFC1):c.1605+20G>T
|
rs1002679
|
0.02967
|
NM_001081.4(CUBN):c.3417A>G (p.Leu1139=)
|
rs1801228
|
0.02872
|
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)
|
rs6662272
|
0.02835
|
NM_172250.3(MMAA):c.*2364A>G
|
rs13129907
|
0.02803
|
NM_005142.3(CBLIF):c.764A>G (p.Asn255Ser)
|
rs35867471
|
0.02593
|
NM_000355.4(TCN2):c.1023G>A (p.Pro341=)
|
rs76802001
|
0.02514
|
NM_052845.4(MMAB):c.*3178C>A
|
rs73414071
|
0.02490
|
NM_001081.4(CUBN):c.8635C>A (p.Leu2879Ile)
|
rs1801238
|
0.02483
|
NM_052845.4(MMAB):c.*2628C>T
|
rs73414074
|
0.02477
|
NM_052845.4(MMAB):c.*564G>C
|
rs56760240
|
0.02466
|
NM_052845.4(MMAB):c.*374T>A
|
rs549601416
|
0.02435
|
NM_001081.4(CUBN):c.2791+14C>T
|
rs111781659
|
0.02354
|
NM_001081.4(CUBN):c.196G>A (p.Gly66Arg)
|
rs12259370
|
0.02267
|
NM_172250.3(MMAA):c.*2372T>A
|
rs74719174
|
0.02233
|
NM_015702.3(MMADHC):c.-49T>C
|
rs79997772
|
0.02222
|
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser)
|
rs61739582
|
0.02033
|
NM_001081.4(CUBN):c.7724C>G (p.Pro2575Arg)
|
rs3740168
|
0.02019
|
NM_001081.4(CUBN):c.2791+6A>C
|
rs78549445
|
0.01999
|
NM_000254.3(MTR):c.940G>A (p.Asp314Asn)
|
rs2229274
|
0.01853
|
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)
|
rs34172797
|
0.01824
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
NM_000355.4(TCN2):c.*382C>T
|
rs56076607
|
0.01762
|
NM_018368.4(LMBRD1):c.980+11T>C
|
rs114726590
|
0.01756
|
NM_001081.4(CUBN):c.2571C>T (p.Asn857=)
|
rs17432826
|
0.01751
|
NM_001081.4(CUBN):c.10265C>T (p.Thr3422Ile)
|
rs1801230
|
0.01713
|
NM_002454.3(MTRR):c.1464A>G (p.Val488=)
|
rs35890938
|
0.01708
|
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)
|
rs6874544
|
0.01706
|
NM_000254.3(MTR):c.3491G>A (p.Arg1164His)
|
rs61736326
|
0.01657
|
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)
|
rs141722238
|
0.01632
|
NM_001081.4(CUBN):c.8902G>C (p.Glu2968Gln)
|
rs45569534
|
0.01626
|
NM_015702.3(MMADHC):c.478+6T>G
|
rs13402787
|
0.01622
|
NM_001081.4(CUBN):c.*305T>G
|
rs143326344
|
0.01612
|
NM_001081.4(CUBN):c.*781C>T
|
rs115080396
|
0.01607
|
NM_001081.4(CUBN):c.5924C>T (p.Pro1975Leu)
|
rs41289303
|
0.01542
|
NM_002454.3(MTRR):c.1370+19G>A
|
rs113005255
|
0.01540
|
NM_052845.4(MMAB):c.*380A>T
|
rs74967596
|
0.01505
|
NM_172250.3(MMAA):c.*434C>T
|
rs72950841
|
0.01492
|
NM_172250.3(MMAA):c.*3824C>A
|
rs72950842
|
0.01396
|
NM_001081.4(CUBN):c.*93C>A
|
rs111644764
|
0.01367
|
NM_172250.3(MMAA):c.*4336A>G
|
rs138752110
|
0.01347
|
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
|
rs111265129
|
0.01345
|
NM_015506.3(MMACHC):c.738C>T (p.Pro246=)
|
rs16832550
|
0.01337
|
NM_015506.3(MMACHC):c.*269A>G
|
rs35067820
|
0.01308
|
NM_016579.4(CD320):c.769G>A (p.Glu257Lys)
|
rs2232786
|
0.01308
|
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu)
|
rs35915865
|
0.01306
|
NM_000355.4(TCN2):c.65-17C>T
|
rs77763564
|
0.01306
|
NM_172250.3(MMAA):c.*1782A>G
|
rs114134771
|
0.01301
|
NM_000254.3(MTR):c.3496C>T (p.Leu1166=)
|
rs12030699
|
0.01249
|
NM_001081.4(CUBN):c.*151G>A
|
rs76742384
|
0.01235
|
NM_172250.3(MMAA):c.138T>C (p.Ser46=)
|
rs34702224
|
0.01204
|
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=)
|
rs34327883
|
0.01106
|
NM_000254.3(MTR):c.3599-10C>A
|
rs41530146
|
0.01080
|
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)
|
rs61746421
|
0.01067
|
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)
|
rs34886916
|
0.01066
|
NM_001062.4(TCN1):c.172del (p.Val58fs)
|
rs34530014
|
0.01044
|
NM_001081.4(CUBN):c.*45C>T
|
rs7085076
|
0.01027
|
NM_001081.4(CUBN):c.8741C>T (p.Ala2914Val)
|
rs45551835
|
0.01006
|
NM_015702.3(MMADHC):c.*164A>G
|
rs147662711
|
0.00973
|
NM_000355.4(TCN2):c.*300T>G
|
rs187942607
|
0.00942
|
NM_005050.4(ABCD4):c.195T>C (p.Ser65=)
|
rs35417609
|
0.00937
|
NM_005142.3(CBLIF):c.990C>T (p.Asn330=)
|
rs2867802
|
0.00921
|
NM_001081.4(CUBN):c.4872C>T (p.Ile1624=)
|
rs114958584
|
0.00910
|
NM_000254.3(MTR):c.2474-19T>A
|
rs11809449
|
0.00849
|
NM_005142.3(CBLIF):c.290T>C (p.Met97Thr)
|
rs150884181
|
0.00842
|
NM_005050.4(ABCD4):c.1028+6G>T
|
rs115783644
|
0.00836
|
NM_005050.4(ABCD4):c.669-13T>G
|
rs144451801
|
0.00836
|
NM_001081.4(CUBN):c.6561G>A (p.Ser2187=)
|
rs11254278
|
0.00833
|
NM_172250.3(MMAA):c.*600G>A
|
rs112882351
|
0.00820
|
NM_000355.4(TCN2):c.840T>C (p.Asp280=)
|
rs79999752
|
0.00808
|
NM_001081.4(CUBN):c.6788T>G (p.Phe2263Cys)
|
rs2271460
|
0.00803
|
NM_001081.4(CUBN):c.10039G>A (p.Gly3347Arg)
|
rs146027947
|
0.00789
|
NM_005142.3(CBLIF):c.193G>A (p.Gly65Arg)
|
rs11825834
|
0.00763
|
NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NC_000012.12:g.109573660G>A
|
rs66486014
|
0.00733
|
NM_016579.4(CD320):c.522G>T (p.Pro174=)
|
rs79658260
|
0.00731
|
NM_001081.4(CUBN):c.6924A>T (p.Ser2308=)
|
rs115303408
|
0.00727
|
NM_005050.4(ABCD4):c.10G>C (p.Ala4Pro)
|
rs139863822
|
0.00711
|
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)
|
rs139206262
|
0.00700
|
NM_001081.4(CUBN):c.*872T>C
|
rs116825641
|
0.00690
|
NM_001081.4(CUBN):c.5098G>A (p.Asp1700Asn)
|
rs116114483
|
0.00681
|
NM_000355.3(TCN2):c.-244C>T
|
rs143029449
|
0.00657
|
NM_001081.4(CUBN):c.*737T>C
|
rs114039309
|
0.00648
|
NM_001081.4(CUBN):c.9491C>G (p.Ser3164Trp)
|
rs57163243
|
0.00641
|
NM_030943.4(AMN):c.363G>A (p.Gly121=)
|
rs141455061
|
0.00632
|
NM_001081.4(CUBN):c.5080+17T>C
|
rs79034718
|
0.00630
|
NM_000254.3(MTR):c.3599-11G>A
|
rs76731959
|
0.00621
|
NM_001081.4(CUBN):c.963C>T (p.Pro321=)
|
rs150309054
|
0.00617
|
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)
|
rs114276563
|
0.00611
|
NM_018368.4(LMBRD1):c.*395T>C
|
rs80330045
|
0.00583
|
NM_052845.4(MMAB):c.349-17T>C
|
rs72650187
|
0.00583
|
NM_005142.3(CBLIF):c.247G>A (p.Asp83Asn)
|
rs115964827
|
0.00580
|
NM_001062.4(TCN1):c.401-9C>T
|
rs66980105
|
0.00579
|
NM_000254.3(MTR):c.858C>T (p.Pro286=)
|
rs146019467
|
0.00576
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00569
|
NM_001081.4(CUBN):c.657G>A (p.Gly219=)
|
rs142553474
|
0.00566
|
NM_052845.4(MMAB):c.*3019A>G
|
rs78065254
|
0.00564
|
NM_001081.4(CUBN):c.2445C>T (p.Val815=)
|
rs116350428
|
0.00561
|
NM_001081.4(CUBN):c.3752G>C (p.Ser1251Thr)
|
rs115048360
|
0.00561
|
NM_005050.4(ABCD4):c.543-14T>C
|
rs79311122
|
0.00556
|
NM_001062.4(TCN1):c.925G>A (p.Val309Ile)
|
rs72550758
|
0.00549
|
NM_005334.3(HCFC1):c.1445-14C>T
|
rs184593569
|
0.00544
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_001081.4(CUBN):c.9340G>A (p.Gly3114Ser)
|
rs117035284
|
0.00531
|
NM_000254.3(MTR):c.1033G>A (p.Val345Ile)
|
rs145006491
|
0.00514
|
NM_030943.4(AMN):c.324C>T (p.Asp108=)
|
rs7140429
|
0.00514
|
NM_001081.4(CUBN):c.9986C>T (p.Ser3329Leu)
|
rs74431427
|
0.00513
|
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)
|
rs3027882
|
0.00511
|
NM_000254.3(MTR):c.3474G>A (p.Leu1158=)
|
rs142113735
|
0.00510
|
NM_030943.4(AMN):c.165G>A (p.Met55Ile)
|
rs61731158
|
0.00505
|
NM_001081.4(CUBN):c.4696-16G>T
|
rs140260072
|
0.00504
|
NM_002454.3(MTRR):c.288C>T (p.Leu96=)
|
rs35587995
|
0.00500
|
NM_000254.3(MTR):c.3599-18C>T
|
rs116444161
|
0.00483
|
NM_172250.3(MMAA):c.*2807C>T
|
rs7675466
|
0.00480
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
NM_000254.3(MTR):c.1437C>T (p.Asp479=)
|
rs115424814
|
0.00432
|
NM_030943.4(AMN):c.829A>G (p.Thr277Ala)
|
rs146499374
|
0.00428
|
NM_018368.4(LMBRD1):c.1509+20G>C
|
rs116095397
|
0.00424
|
NM_172250.3(MMAA):c.*541A>G
|
rs114729477
|
0.00424
|
NM_001081.4(CUBN):c.2791+9_2791+16del
|
rs375796983
|
0.00423
|
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)
|
rs143288344
|
0.00421
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)
|
rs41283145
|
0.00414
|
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr)
|
rs57335729
|
0.00406
|
NM_001081.4(CUBN):c.7868A>C (p.Glu2623Ala)
|
rs115449747
|
0.00403
|
NM_000254.3(MTR):c.2474-17A>T
|
rs571901048
|
0.00401
|
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg)
|
rs113042166
|
0.00401
|
NM_000254.3(MTR):c.669+20C>T
|
rs200305844
|
0.00392
|
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg)
|
rs116605132
|
0.00388
|
NM_001081.4(CUBN):c.3292G>T (p.Ala1098Ser)
|
rs146593010
|
0.00386
|
NM_018368.4(LMBRD1):c.-18T>A
|
rs202192515
|
0.00384
|
NM_005050.4(ABCD4):c.1023G>A (p.Thr341=)
|
rs35522023
|
0.00378
|
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser)
|
rs142581908
|
0.00371
|
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)
|
rs114259126
|
0.00366
|
NM_018368.4(LMBRD1):c.562+18T>A
|
rs183663902
|
0.00364
|
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)
|
rs141937843
|
0.00363
|
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=)
|
rs140184467
|
0.00358
|
NM_001081.4(CUBN):c.6997A>G (p.Ile2333Val)
|
rs149507036
|
0.00349
|
NM_000355.4(TCN2):c.877C>T (p.Leu293=)
|
rs45624233
|
0.00347
|
NM_030943.4(AMN):c.208-10T>C
|
rs115851517
|
0.00345
|
NM_002454.3(MTRR):c.876C>T (p.Thr292=)
|
rs144724549
|
0.00341
|
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=)
|
rs149650795
|
0.00341
|
NM_172250.3(MMAA):c.*1966C>T
|
rs147742767
|
0.00337
|
NM_001081.4(CUBN):c.*769G>A
|
rs149618660
|
0.00335
|
NM_000254.3(MTR):c.1076-8C>T
|
rs115186224
|
0.00321
|
NM_000355.4(TCN2):c.360G>A (p.Arg120=)
|
rs115272037
|
0.00321
|
NM_016579.4(CD320):c.143-11C>T
|
rs116345590
|
0.00321
|
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile)
|
rs145872906
|
0.00305
|
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val)
|
rs76789390
|
0.00304
|
NM_052845.4(MMAB):c.*3295C>T
|
rs144430513
|
0.00304
|
NM_172250.3(MMAA):c.*4326A>T
|
rs182426004
|
0.00304
|
NM_002454.3(MTRR):c.210C>G (p.Arg70=)
|
rs41282641
|
0.00303
|
NM_052845.4(MMAB):c.*1088A>T
|
rs142486697
|
0.00303
|
NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)
|
rs149729439
|
0.00292
|
NM_001081.4(CUBN):c.2103A>G (p.Thr701=)
|
rs143693723
|
0.00290
|
NM_001081.4(CUBN):c.8411-14T>C
|
rs141775273
|
0.00287
|
NM_172250.3(MMAA):c.*1610C>T
|
rs185925141
|
0.00285
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
NM_030943.4(AMN):c.843+12G>A
|
rs140902778
|
0.00278
|
NM_000254.3(MTR):c.250-7G>A
|
rs184332230
|
0.00277
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_001062.4(TCN1):c.1000A>G (p.Ile334Val)
|
rs142805308
|
0.00272
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_001081.4(CUBN):c.10033-17C>T
|
rs188241873
|
0.00271
|
NM_000254.3(MTR):c.1485G>A (p.Met495Ile)
|
rs2229275
|
0.00265
|
NM_016579.4(CD320):c.840G>A (p.Ser280=)
|
rs2232787
|
0.00264
|
NM_172250.3(MMAA):c.597G>A (p.Glu199=)
|
rs116773849
|
0.00262
|
NM_000254.3(MTR):c.2349C>T (p.Asp783=)
|
rs150734119
|
0.00261
|
NM_000254.3(MTR):c.2473+8G>T
|
rs144061765
|
0.00260
|
NM_001062.4(TCN1):c.653G>T (p.Ser218Ile)
|
rs75927196
|
0.00258
|
NM_000355.4(TCN2):c.230A>T (p.Lys77Met)
|
rs75680863
|
0.00255
|
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=)
|
rs144472791
|
0.00255
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_052845.4(MMAB):c.*2186T>C
|
rs147647465
|
0.00246
|
NM_052845.4(MMAB):c.*1685G>A
|
rs117011771
|
0.00244
|
NM_172250.3(MMAA):c.*4533C>T
|
rs114762906
|
0.00244
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_052845.4(MMAB):c.*404T>G
|
rs148289390
|
0.00240
|
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)
|
rs116836001
|
0.00235
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_052845.4(MMAB):c.*1067C>T
|
rs143292900
|
0.00226
|
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu)
|
rs147752521
|
0.00217
|
NM_030943.4(AMN):c.208-16C>T
|
rs202004969
|
0.00214
|
NM_001081.4(CUBN):c.1530+12A>C
|
rs138936163
|
0.00212
|
NM_030943.4(AMN):c.843+11C>T
|
rs369361298
|
0.00210
|
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)
|
rs146071220
|
0.00203
|
NM_000355.4(TCN2):c.64+11C>T
|
rs141519384
|
0.00203
|
NM_000254.3(MTR):c.2474-18_2474-17del
|
rs1491459998
|
0.00202
|
NM_015506.3(MMACHC):c.276+17T>A
|
rs115028762
|
0.00201
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu)
|
rs146009793
|
0.00196
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)
|
rs75737363
|
0.00192
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_001081.4(CUBN):c.9987G>A (p.Ser3329=)
|
rs80308930
|
0.00182
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001081.4(CUBN):c.7706-4T>C
|
rs374979108
|
0.00180
|
NM_172250.3(MMAA):c.*97G>C
|
rs148424051
|
0.00178
|
NM_052845.4(MMAB):c.185C>T (p.Thr62Met)
|
rs115802744
|
0.00177
|
NM_172250.3(MMAA):c.*3325C>T
|
rs529131828
|
0.00170
|
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)
|
rs115888073
|
0.00169
|
NM_001081.4(CUBN):c.10119C>A (p.Val3373=)
|
rs139596037
|
0.00168
|
NM_172250.3(MMAA):c.-66+10G>C
|
rs546775043
|
0.00165
|
NM_000254.3(MTR):c.685G>A (p.Val229Ile)
|
rs61736441
|
0.00164
|
NM_172250.3(MMAA):c.-14C>T
|
rs138947726
|
0.00164
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000254.3(MTR):c.2474-16A>T
|
rs539082928
|
0.00162
|
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)
|
rs11557600
|
0.00162
|
NM_052845.4(MMAB):c.*2342G>A
|
rs72650176
|
0.00162
|
NM_001081.4(CUBN):c.*436C>A
|
rs574512019
|
0.00159
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_001081.4(CUBN):c.910G>A (p.Glu304Lys)
|
rs78201384
|
0.00159
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_000254.3(MTR):c.764+16T>C
|
rs138222686
|
0.00158
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
NM_001081.4(CUBN):c.1417+20T>C
|
rs181536212
|
0.00156
|
NM_172250.3(MMAA):c.*1988A>T
|
rs141116337
|
0.00156
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_000355.4(TCN2):c.623G>A (p.Arg208His)
|
rs150472705
|
0.00154
|
NM_000355.4(TCN2):c.-98T>G
|
rs370882214
|
0.00150
|
NM_001081.4(CUBN):c.6938A>T (p.Tyr2313Phe)
|
rs140806389
|
0.00150
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_172250.3(MMAA):c.*188A>G
|
rs886059091
|
0.00150
|
NM_000355.4(TCN2):c.138C>T (p.Ser46=)
|
rs143250551
|
0.00148
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
NM_002454.3(MTRR):c.177C>G (p.Thr59=)
|
rs142098262
|
0.00147
|
NM_052845.4(MMAB):c.624C>T (p.Asn208=)
|
rs146687452
|
0.00146
|
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)
|
rs16879355
|
0.00145
|
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu)
|
rs146995189
|
0.00143
|
NM_015702.3(MMADHC):c.9+14C>T
|
rs140075619
|
0.00140
|
NM_005142.3(CBLIF):c.872-8C>A
|
rs200571955
|
0.00138
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_172250.3(MMAA):c.*3035A>C
|
rs576544645
|
0.00135
|
NM_172250.3(MMAA):c.102C>T (p.Leu34=)
|
rs146372922
|
0.00135
|
NM_000355.4(TCN2):c.428-4T>C
|
rs201408393
|
0.00134
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
NM_052845.4(MMAB):c.-4G>C
|
rs372195202
|
0.00134
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_000355.4(TCN2):c.*381T>G
|
rs149713328
|
0.00128
|
NM_016579.4(CD320):c.745C>T (p.Leu249Phe)
|
rs115054912
|
0.00126
|
NM_001081.4(CUBN):c.1947+9T>A
|
rs376950340
|
0.00125
|
NM_001081.4(CUBN):c.2792-6C>G
|
rs185269080
|
0.00125
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_002454.3(MTRR):c.144C>T (p.Thr48=)
|
rs138612190
|
0.00120
|
NM_002454.3(MTRR):c.828G>A (p.Val276=)
|
rs115289458
|
0.00120
|
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)
|
rs145183787
|
0.00118
|
NM_030943.4(AMN):c.57G>T (p.Ala19=)
|
rs145328398
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_030943.4(AMN):c.1169+11C>G
|
rs764673271
|
0.00115
|
NM_001081.4(CUBN):c.348+17C>T
|
rs200466568
|
0.00114
|
NM_001081.4(CUBN):c.5967G>C (p.Val1989=)
|
rs139153235
|
0.00111
|
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)
|
rs140862613
|
0.00111
|
NM_052845.4(MMAB):c.*1988C>T
|
rs183354300
|
0.00111
|
NM_000355.4(TCN2):c.998C>T (p.Thr333Met)
|
rs117458738
|
0.00108
|
NM_000254.3(MTR):c.3477C>T (p.Asp1159=)
|
rs117061132
|
0.00106
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_001081.4(CUBN):c.2677A>G (p.Thr893Ala)
|
rs188342700
|
0.00104
|
NM_002454.3(MTRR):c.781-14A>G
|
rs112996747
|
0.00104
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)
|
rs185998087
|
0.00101
|
NM_000355.4(TCN2):c.941-13C>T
|
rs192009509
|
0.00099
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_018368.4(LMBRD1):c.981-11A>T
|
rs75847296
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_001081.4(CUBN):c.10245C>T (p.Tyr3415=)
|
rs147730705
|
0.00091
|
NM_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_001081.4(CUBN):c.9204C>T (p.Ile3068=)
|
rs117755237
|
0.00091
|
NM_001081.4(CUBN):c.9206C>T (p.Thr3069Ile)
|
rs117400821
|
0.00091
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
NM_052845.4(MMAB):c.*2023C>T
|
rs546885397
|
0.00091
|
NM_001081.4(CUBN):c.3495C>T (p.Cys1165=)
|
rs143531829
|
0.00090
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
NM_030943.4(AMN):c.844-3C>T
|
rs145519816
|
0.00088
|
NM_001081.4(CUBN):c.10575C>T (p.Pro3525=)
|
rs145569358
|
0.00086
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)
|
rs147457956
|
0.00085
|
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg)
|
rs141489700
|
0.00083
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_018368.4(LMBRD1):c.1509+19C>T
|
rs200824654
|
0.00083
|
NM_005142.3(CBLIF):c.1138G>A (p.Val380Ile)
|
rs144070828
|
0.00082
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
0.00081
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_030943.4(AMN):c.275C>T (p.Ser92Leu)
|
rs144707331
|
0.00079
|
NM_001081.4(CUBN):c.4671T>G (p.Leu1557=)
|
rs151197305
|
0.00078
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
NM_172250.3(MMAA):c.*192G>A
|
rs188845060
|
0.00078
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)
|
rs139369078
|
0.00077
|
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)
|
rs11254385
|
0.00076
|
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)
|
rs144160012
|
0.00076
|
NM_000254.3(MTR):c.3774C>T (p.Pro1258=)
|
rs76418646
|
0.00075
|
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
NM_001081.4(CUBN):c.2110+18T>C
|
rs117028815
|
0.00075
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)
|
rs201813445
|
0.00075
|
NM_172250.3(MMAA):c.*1952T>C
|
rs79927727
|
0.00074
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_172250.3(MMAA):c.966A>G (p.Pro322=)
|
rs150692463
|
0.00073
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_172250.3(MMAA):c.879A>G (p.Gly293=)
|
rs146352309
|
0.00072
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
NM_001081.4(CUBN):c.10105A>G (p.Ser3369Gly)
|
rs145023719
|
0.00070
|
NM_001081.4(CUBN):c.8399C>T (p.Thr2800Ile)
|
rs141737312
|
0.00070
|
NM_005142.3(CBLIF):c.82G>A (p.Val28Ile)
|
rs139090732
|
0.00068
|
NM_005334.3(HCFC1):c.503+14C>G
|
rs371163886
|
0.00068
|
NM_001081.4(CUBN):c.*782G>A
|
rs570478432
|
0.00067
|
NM_000355.4(TCN2):c.427+17C>T
|
rs187924928
|
0.00066
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe)
|
rs141819241
|
0.00063
|
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
|
rs368279501
|
0.00063
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00063
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)
|
rs74790259
|
0.00059
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
NM_016579.4(CD320):c.438T>C (p.Ile146=)
|
rs146218039
|
0.00059
|
NM_002454.3(MTRR):c.879T>C (p.Thr293=)
|
rs773629167
|
0.00058
|
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
|
rs200399318
|
0.00058
|
NM_001062.4(TCN1):c.1181C>A (p.Ala394Asp)
|
rs538179287
|
0.00057
|
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)
|
rs61743653
|
0.00056
|
NM_000355.4(TCN2):c.809C>T (p.Ala270Val)
|
rs201392026
|
0.00056
|
NM_000355.4(TCN2):c.90G>A (p.Leu30=)
|
rs576996415
|
0.00056
|
NM_001062.4(TCN1):c.343G>A (p.Asp115Asn)
|
rs35287646
|
0.00056
|
NM_002454.3(MTRR):c.1058-16G>A
|
rs201644712
|
0.00056
|
NM_005142.3(CBLIF):c.218A>G (p.Lys73Arg)
|
rs139444835
|
0.00056
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr)
|
rs200997332
|
0.00055
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
|
rs147447600
|
0.00055
|
NM_001081.4(CUBN):c.5522C>T (p.Thr1841Met)
|
rs138989259
|
0.00054
|
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp)
|
rs374992877
|
0.00053
|
NM_030943.4(AMN):c.1349A>G (p.Glu450Gly)
|
rs370794142
|
0.00053
|
NM_001062.4(TCN1):c.1221A>C (p.Gly407=)
|
rs571111927
|
0.00052
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
NM_016579.4(CD320):c.722G>A (p.Ser241Asn)
|
rs140803270
|
0.00051
|
NM_030943.4(AMN):c.63C>T (p.Ser21=)
|
rs150802428
|
0.00051
|
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
|
rs376756703
|
0.00050
|
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser)
|
rs73477459
|
0.00050
|
NM_052845.4(MMAB):c.*3265A>G
|
rs776804847
|
0.00050
|
NM_001062.4(TCN1):c.855C>T (p.Asn285=)
|
rs72550759
|
0.00049
|
NM_018368.4(LMBRD1):c.-103A>G
|
rs369575833
|
0.00049
|
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met)
|
rs144991102
|
0.00048
|
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)
|
rs61739388
|
0.00048
|
NM_172250.3(MMAA):c.*3254A>C
|
rs539831571
|
0.00048
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
0.00047
|
NM_001081.4(CUBN):c.*734A>G
|
rs751683958
|
0.00046
|
NM_002454.3(MTRR):c.540G>A (p.Val180=)
|
rs149037732
|
0.00046
|
NM_005050.4(ABCD4):c.425+13A>G
|
rs370752716
|
0.00046
|
NM_005142.3(CBLIF):c.1064C>G (p.Pro355Arg)
|
rs201871926
|
0.00045
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_001081.4(CUBN):c.2929T>C (p.Phe977Leu)
|
rs142292210
|
0.00044
|
NM_001081.4(CUBN):c.3988C>T (p.His1330Tyr)
|
rs149749419
|
0.00044
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)
|
rs199762141
|
0.00044
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
NM_001081.4(CUBN):c.8139C>A (p.Thr2713=)
|
rs147742103
|
0.00043
|
NM_030943.4(AMN):c.928G>A (p.Val310Met)
|
rs201788173
|
0.00043
|
NM_000254.3(MTR):c.1959A>C (p.Gln653His)
|
rs562769000
|
0.00042
|
NM_001081.4(CUBN):c.3252A>G (p.Gln1084=)
|
rs142560894
|
0.00042
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
NM_001081.4(CUBN):c.671G>A (p.Arg224His)
|
rs139891639
|
0.00041
|
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)
|
rs41289299
|
0.00041
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp)
|
rs147795328
|
0.00041
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
0.00041
|
NM_001062.4(TCN1):c.450C>T (p.Asp150=)
|
rs139772818
|
0.00040
|
NM_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
|
rs377463848
|
0.00040
|
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)
|
rs782384589
|
0.00040
|
NM_172250.3(MMAA):c.*4103G>A
|
rs191381122
|
0.00040
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
NM_052845.4(MMAB):c.*961G>A
|
rs541447661
|
0.00039
|
NM_172250.3(MMAA):c.*2562C>T
|
rs529092235
|
0.00039
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)
|
rs201898615
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
NM_001081.4(CUBN):c.8593G>A (p.Val2865Met)
|
rs146847375
|
0.00037
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
NM_172250.3(MMAA):c.*342A>G
|
rs886059093
|
0.00037
|
NM_000254.3(MTR):c.3712-7T>G
|
rs151081130
|
0.00036
|
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)
|
rs182162293
|
0.00035
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
0.00035
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)
|
rs200053475
|
0.00035
|
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)
|
rs190844812
|
0.00035
|
NM_005334.3(HCFC1):c.4943-11C>T
|
rs375388306
|
0.00035
|
NM_052845.4(MMAB):c.*2740G>A
|
rs139886832
|
0.00035
|
NM_172250.3(MMAA):c.57A>G (p.Ala19=)
|
rs143211378
|
0.00035
|
NM_000254.3(MTR):c.1953+6G>C
|
rs147410975
|
0.00034
|
NM_001081.4(CUBN):c.1349G>A (p.Gly450Asp)
|
rs146463364
|
0.00034
|
NM_001081.4(CUBN):c.6091A>G (p.Thr2031Ala)
|
rs150392211
|
0.00034
|
NM_001081.4(CUBN):c.8671G>A (p.Val2891Ile)
|
rs150488625
|
0.00034
|
NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
0.00034
|
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)
|
rs139315421
|
0.00034
|
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)
|
rs200577062
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_030943.4(AMN):c.321T>C (p.Ser107=)
|
rs563004567
|
0.00034
|
NM_030943.4(AMN):c.651+3G>T
|
rs751723677
|
0.00034
|
NM_001062.4(TCN1):c.879C>T (p.Ala293=)
|
rs143457374
|
0.00033
|
NM_001081.4(CUBN):c.5429G>A (p.Arg1810Gln)
|
rs149622438
|
0.00033
|
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln)
|
rs117353193
|
0.00032
|
NM_001062.4(TCN1):c.924C>T (p.Cys308=)
|
rs146250932
|
0.00032
|
NM_001081.4(CUBN):c.4376C>G (p.Ser1459Cys)
|
rs138022214
|
0.00032
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_001081.4(CUBN):c.791G>C (p.Arg264Thr)
|
rs144440300
|
0.00032
|
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
|
rs147297426
|
0.00032
|
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly)
|
rs145807876
|
0.00031
|
NM_001081.4(CUBN):c.3116A>G (p.Tyr1039Cys)
|
rs150014503
|
0.00031
|
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
0.00031
|
NM_030943.4(AMN):c.909C>T (p.Ala303=)
|
rs373382273
|
0.00031
|
NM_052845.4(MMAB):c.*3043T>G
|
rs771530065
|
0.00031
|
NM_052845.4(MMAB):c.*503G>A
|
rs766339289
|
0.00031
|
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
|
rs371714495
|
0.00031
|
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_005050.4(ABCD4):c.1637-10G>A
|
rs201148020
|
0.00030
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
0.00030
|
NM_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)
|
rs151134377
|
0.00029
|
NM_001081.4(CUBN):c.6263T>C (p.Phe2088Ser)
|
rs74844886
|
0.00029
|
NM_001081.4(CUBN):c.814G>A (p.Gly272Arg)
|
rs146035059
|
0.00029
|
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)
|
rs142696207
|
0.00029
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
|
rs373690520
|
0.00029
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
NM_172250.3(MMAA):c.*2139A>G
|
rs772671304
|
0.00029
|
NM_000355.4(TCN2):c.257+16C>G
|
rs369577877
|
0.00028
|
NM_001062.4(TCN1):c.776A>G (p.Asn259Ser)
|
rs139595894
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)
|
rs781955031
|
0.00028
|
NM_001062.4(TCN1):c.1241-9C>T
|
rs376946665
|
0.00027
|
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)
|
rs145881708
|
0.00027
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
|
rs191787640
|
0.00027
|
NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
NM_005142.3(CBLIF):c.1074-10T>C
|
rs375549830
|
0.00027
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
NM_172250.3(MMAA):c.*1584A>G
|
rs530538534
|
0.00027
|
NM_172250.3(MMAA):c.*177A>G
|
rs572996882
|
0.00027
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val)
|
rs201901663
|
0.00026
|
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val)
|
rs149476106
|
0.00026
|
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro)
|
rs142651651
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_001062.4(TCN1):c.358G>A (p.Asp120Asn)
|
rs80072840
|
0.00026
|
NM_001062.4(TCN1):c.980C>G (p.Pro327Arg)
|
rs36044892
|
0.00026
|
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu)
|
rs200537125
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001081.4(CUBN):c.4167C>T (p.Tyr1389=)
|
rs150510291
|
0.00026
|
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)
|
rs143899993
|
0.00026
|
NM_005050.4(ABCD4):c.669-11_669-8del
|
rs373949463
|
0.00026
|
NM_052845.4(MMAB):c.*2051C>T
|
rs775263273
|
0.00026
|
NM_052845.4(MMAB):c.*2914G>A
|
rs759971406
|
0.00026
|
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys)
|
rs142774813
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_000355.4(TCN2):c.501C>T (p.His167=)
|
rs144652799
|
0.00024
|
NM_001081.4(CUBN):c.9927C>G (p.Val3309=)
|
rs202234356
|
0.00024
|
NM_016579.4(CD320):c.478G>A (p.Asp160Asn)
|
rs188158114
|
0.00024
|
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)
|
rs148414435
|
0.00023
|
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)
|
rs374409316
|
0.00022
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
NM_001081.4(CUBN):c.8071G>A (p.Gly2691Arg)
|
rs1801237
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
0.00022
|
NM_018368.4(LMBRD1):c.1510-17C>T
|
rs149064101
|
0.00022
|
NM_000254.3(MTR):c.1215G>A (p.Gln405=)
|
rs376048659
|
0.00021
|
NM_000355.4(TCN2):c.249C>T (p.Cys83=)
|
rs151327362
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_001081.4(CUBN):c.4702G>A (p.Asp1568Asn)
|
rs533512333
|
0.00021
|
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu)
|
rs140983139
|
0.00021
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
NM_016579.4(CD320):c.759C>T (p.Leu253=)
|
rs200607555
|
0.00021
|
NM_052845.4(MMAB):c.333C>T (p.Ala111=)
|
rs769385276
|
0.00021
|
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr)
|
rs148897041
|
0.00020
|
NM_000254.3(MTR):c.639T>C (p.Phe213=)
|
rs568734591
|
0.00020
|
NM_001081.4(CUBN):c.6344A>G (p.Asn2115Ser)
|
rs143835350
|
0.00020
|
NM_005142.3(CBLIF):c.1130C>T (p.Ala377Val)
|
rs370902375
|
0.00020
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)
|
rs200345511
|
0.00020
|
NM_016579.4(CD320):c.378C>T (p.Asn126=)
|
rs144097701
|
0.00020
|
NM_052845.4(MMAB):c.*3142G>A
|
rs747166756
|
0.00020
|
NM_172250.3(MMAA):c.*2471G>A
|
rs886059106
|
0.00020
|
NM_000254.3(MTR):c.1075+7C>T
|
rs202157685
|
0.00019
|
NM_000355.4(TCN2):c.*405T>C
|
rs539828054
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_001062.4(TCN1):c.357C>T (p.Ile119=)
|
rs144166853
|
0.00019
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.388-3C>T
|
rs367626184
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)
|
rs140202552
|
0.00019
|
NM_001081.4(CUBN):c.6479A>G (p.Asp2160Gly)
|
rs144704318
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001081.4(CUBN):c.9597C>T (p.Leu3199=)
|
rs200457480
|
0.00019
|
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)
|
rs199986349
|
0.00019
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
NM_005142.3(CBLIF):c.26T>C (p.Leu9Pro)
|
rs146699265
|
0.00019
|
NM_005142.3(CBLIF):c.964C>T (p.Leu322=)
|
rs142491344
|
0.00019
|
NM_005334.3(HCFC1):c.4942+11G>A
|
rs782730900
|
0.00019
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
0.00019
|
NM_000355.4(TCN2):c.258-16A>G
|
rs374013099
|
0.00018
|
NM_000355.4(TCN2):c.572A>G (p.His191Arg)
|
rs151172486
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
NM_016579.4(CD320):c.285C>T (p.Thr95=)
|
rs181066013
|
0.00018
|
NM_030943.4(AMN):c.989C>A (p.Ala330Glu)
|
rs542237999
|
0.00018
|
NM_000355.4(TCN2):c.940+11T>C
|
rs202139921
|
0.00017
|
NM_001081.4(CUBN):c.*940A>G
|
rs560609264
|
0.00017
|
NM_001081.4(CUBN):c.10181-16C>A
|
rs190546478
|
0.00017
|
NM_001081.4(CUBN):c.3995A>G (p.Asn1332Ser)
|
rs370803308
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_005142.3(CBLIF):c.79+1G>A
|
rs147785187
|
0.00017
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_016579.4(CD320):c.374G>A (p.Arg125His)
|
rs375310833
|
0.00017
|
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala)
|
rs12214456
|
0.00017
|
NM_052845.4(MMAB):c.*2503G>A
|
rs886048916
|
0.00017
|
NM_052845.4(MMAB):c.*2636A>G
|
rs748949434
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_172250.3(MMAA):c.630A>G (p.Pro210=)
|
rs374347679
|
0.00017
|
NM_000254.3(MTR):c.13C>A (p.Leu5Ile)
|
rs139083778
|
0.00016
|
NM_000254.3(MTR):c.3252C>T (p.Asp1084=)
|
rs144429636
|
0.00016
|
NM_000254.3(MTR):c.3405+18C>T
|
rs374485228
|
0.00016
|
NM_001081.4(CUBN):c.1604A>G (p.Tyr535Cys)
|
rs139848689
|
0.00016
|
NM_001081.4(CUBN):c.2778T>G (p.Ser926Arg)
|
rs371127860
|
0.00016
|
NM_001081.4(CUBN):c.4459C>T (p.Arg1487Ter)
|
rs145661597
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
0.00016
|
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=)
|
rs149569558
|
0.00016
|
NM_001081.4(CUBN):c.6260C>G (p.Ser2087Cys)
|
rs376641725
|
0.00016
|
NM_001081.4(CUBN):c.7906C>T (p.Arg2636Ter)
|
rs137998687
|
0.00016
|
NM_002454.3(MTRR):c.463A>C (p.Arg155=)
|
rs556611332
|
0.00016
|
NM_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
|
rs149139488
|
0.00016
|
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)
|
rs201456625
|
0.00016
|
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)
|
rs183607306
|
0.00016
|
NM_016579.4(CD320):c.35G>T (p.Trp12Leu)
|
rs763898394
|
0.00016
|
NM_016579.4(CD320):c.41C>T (p.Thr14Ile)
|
rs374551944
|
0.00016
|
NM_016579.4(CD320):c.772C>T (p.Arg258Cys)
|
rs146190802
|
0.00016
|
NM_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
0.00016
|
NM_030943.4(AMN):c.1343G>A (p.Gly448Glu)
|
rs777560818
|
0.00016
|
NM_052845.4(MMAB):c.*554G>A
|
rs562420933
|
0.00016
|
NM_001081.4(CUBN):c.10076C>T (p.Ser3359Leu)
|
rs140566726
|
0.00015
|
NM_001081.4(CUBN):c.427A>C (p.Asn143His)
|
rs151018922
|
0.00015
|
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)
|
rs370379881
|
0.00015
|
NM_018368.4(LMBRD1):c.*166A>G
|
rs960902863
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
0.00015
|
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)
|
rs140956566
|
0.00014
|
NM_000254.3(MTR):c.1855G>C (p.Val619Leu)
|
rs557853306
|
0.00014
|
NM_000254.3(MTR):c.2474-19_2474-15del
|
rs781239294
|
0.00014
|
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr)
|
rs778150805
|
0.00014
|
NM_001081.4(CUBN):c.*266C>T
|
rs374059721
|
0.00014
|
NM_001081.4(CUBN):c.*560C>T
|
rs45565931
|
0.00014
|
NM_001081.4(CUBN):c.-35G>C
|
rs376502722
|
0.00014
|
NM_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
NM_001081.4(CUBN):c.1358C>A (p.Ser453Tyr)
|
rs368630481
|
0.00014
|
NM_001081.4(CUBN):c.1450A>G (p.Ser484Gly)
|
rs750735519
|
0.00014
|
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
|
rs141420691
|
0.00014
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_001081.4(CUBN):c.9035C>T (p.Pro3012Leu)
|
rs143741363
|
0.00014
|
NM_001081.4(CUBN):c.9418G>A (p.Ala3140Thr)
|
rs148491916
|
0.00014
|
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)
|
rs752843169
|
0.00014
|
NM_005050.4(ABCD4):c.719+6T>C
|
rs755014125
|
0.00014
|
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
0.00014
|
NM_005334.3(HCFC1):c.6069-5C>T
|
rs782321258
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
|
rs201601241
|
0.00014
|
NM_030943.4(AMN):c.1086G>A (p.Ala362=)
|
rs959195796
|
0.00014
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
NM_052845.4(MMAB):c.444G>A (p.Gly148=)
|
rs117269384
|
0.00014
|
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
|
rs200690789
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)
|
rs111678627
|
0.00014
|
NM_172250.3(MMAA):c.729C>T (p.Thr243=)
|
rs138111772
|
0.00014
|
NM_000254.3(MTR):c.2043+10A>G
|
rs375005444
|
0.00013
|
NM_000254.3(MTR):c.2405+13C>T
|
rs761948163
|
0.00013
|
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro)
|
rs111465715
|
0.00013
|
NM_000254.3(MTR):c.35-19A>G
|
rs372886393
|
0.00013
|
NM_000355.4(TCN2):c.428-15T>C
|
rs371761297
|
0.00013
|
NM_000355.4(TCN2):c.580+16C>T
|
rs200683293
|
0.00013
|
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu)
|
rs142553702
|
0.00013
|
NM_001062.4(TCN1):c.1262G>A (p.Arg421His)
|
rs189696084
|
0.00013
|
NM_001062.4(TCN1):c.337A>G (p.Ile113Val)
|
rs199557500
|
0.00013
|
NM_001081.4(CUBN):c.4639C>T (p.Arg1547Cys)
|
rs375920680
|
0.00013
|
NM_001081.4(CUBN):c.5459A>G (p.Tyr1820Cys)
|
rs139369652
|
0.00013
|
NM_001081.4(CUBN):c.8680C>G (p.Pro2894Ala)
|
rs377159715
|
0.00013
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser)
|
rs201664321
|
0.00013
|
NM_005050.4(ABCD4):c.867C>T (p.Ile289=)
|
rs138775118
|
0.00013
|
NM_005334.3(HCFC1):c.1119A>G (p.Val373=)
|
rs782547175
|
0.00013
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
NM_005334.3(HCFC1):c.6005-18C>G
|
rs781820710
|
0.00013
|
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
|
rs754862915
|
0.00013
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
0.00013
|
NM_015702.3(MMADHC):c.-60G>A
|
rs886054923
|
0.00013
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
NM_016579.4(CD320):c.773G>A (p.Arg258His)
|
rs143156732
|
0.00013
|
NM_018368.4(LMBRD1):c.*125A>G
|
rs886061689
|
0.00013
|
NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val)
|
rs140727621
|
0.00013
|
NM_052845.4(MMAB):c.*2053C>T
|
rs545623412
|
0.00013
|
NM_172250.3(MMAA):c.-69G>T
|
rs886059086
|
0.00013
|
NM_000355.4(TCN2):c.*18C>T
|
rs371703966
|
0.00012
|
NM_000355.4(TCN2):c.500A>T (p.His167Leu)
|
rs200303429
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001081.4(CUBN):c.2738G>C (p.Ser913Thr)
|
rs201589187
|
0.00012
|
NM_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
NM_005142.3(CBLIF):c.*87G>A
|
rs575272147
|
0.00012
|
NM_005142.3(CBLIF):c.79+3G>A
|
rs146396839
|
0.00012
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)
|
rs199611189
|
0.00012
|
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)
|
rs370113081
|
0.00012
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_052845.4(MMAB):c.*1482C>T
|
rs576738108
|
0.00012
|
NM_052845.4(MMAB):c.584+6A>G
|
rs767719463
|
0.00012
|
NM_172250.3(MMAA):c.*1425C>T
|
rs529476650
|
0.00012
|
NM_172250.3(MMAA):c.941G>A (p.Arg314His)
|
rs148142853
|
0.00012
|
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp)
|
rs140183705
|
0.00011
|
NM_000254.3(MTR):c.2658G>A (p.Ala886=)
|
rs142537384
|
0.00011
|
NM_000254.3(MTR):c.3204+9G>A
|
rs769109539
|
0.00011
|
NM_000355.4(TCN2):c.547G>A (p.Val183Met)
|
rs201925682
|
0.00011
|
NM_001062.4(TCN1):c.730A>G (p.Thr244Ala)
|
rs147942868
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.1947+18G>A
|
rs374436643
|
0.00011
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
NM_001081.4(CUBN):c.6278G>C (p.Gly2093Ala)
|
rs748823977
|
0.00011
|
NM_001081.4(CUBN):c.6661G>A (p.Val2221Ile)
|
rs143291127
|
0.00011
|
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)
|
rs184746130
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_002454.3(MTRR):c.198C>T (p.Pro66=)
|
rs776410065
|
0.00011
|
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg)
|
rs996966324
|
0.00011
|
NM_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
0.00011
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
NM_005142.3(CBLIF):c.750G>A (p.Thr250=)
|
rs377432418
|
0.00011
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_016579.4(CD320):c.269-13C>A
|
rs200852300
|
0.00011
|
NM_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
0.00011
|
NM_030943.4(AMN):c.93C>T (p.Asp31=)
|
rs772599857
|
0.00011
|
NM_052845.4(MMAB):c.*1689C>T
|
rs886093880
|
0.00011
|
NM_052845.4(MMAB):c.*3074C>T
|
rs186602321
|
0.00011
|
NM_052845.4(MMAB):c.666G>A (p.Thr222=)
|
rs369296142
|
0.00011
|
NM_172250.3(MMAA):c.*942A>G
|
rs886059096
|
0.00011
|
NM_172250.3(MMAA):c.440-17A>T
|
rs373100355
|
0.00011
|
NM_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
NM_000254.3(MTR):c.68A>G (p.Asn23Ser)
|
rs760845484
|
0.00010
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys)
|
rs201701227
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_001081.4(CUBN):c.*786T>C
|
rs886046853
|
0.00010
|
NM_001081.4(CUBN):c.10641G>A (p.Arg3547=)
|
rs145909413
|
0.00010
|
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)
|
rs201484266
|
0.00010
|
NM_001081.4(CUBN):c.2177G>A (p.Gly726Glu)
|
rs767277942
|
0.00010
|
NM_001081.4(CUBN):c.3084C>T (p.Ser1028=)
|
rs775668389
|
0.00010
|
NM_001081.4(CUBN):c.323G>A (p.Ser108Asn)
|
rs543983858
|
0.00010
|
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)
|
rs151039810
|
0.00010
|
NM_001081.4(CUBN):c.516C>T (p.Asn172=)
|
rs576450214
|
0.00010
|
NM_001081.4(CUBN):c.5323C>T (p.Arg1775Trp)
|
rs1276708
|
0.00010
|
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu)
|
rs201374966
|
0.00010
|
NM_001081.4(CUBN):c.7000+14T>A
|
rs768710639
|
0.00010
|
NM_001081.4(CUBN):c.7211-17T>C
|
rs770229291
|
0.00010
|
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=)
|
rs201002903
|
0.00010
|
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)
|
rs201348649
|
0.00010
|
NM_002454.3(MTRR):c.904-19dup
|
rs1554003810
|
0.00010
|
NM_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
NM_005050.4(ABCD4):c.756G>A (p.Arg252=)
|
rs149632647
|
0.00010
|
NM_005142.3(CBLIF):c.1107C>T (p.Val369=)
|
rs537424617
|
0.00010
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)
|
rs202189863
|
0.00010
|
NM_016579.4(CD320):c.405C>T (p.Gly135=)
|
rs372005633
|
0.00010
|
NM_018368.4(LMBRD1):c.*384A>C
|
rs536469891
|
0.00010
|
NM_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
0.00010
|
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
|
rs376081191
|
0.00010
|
NM_052845.4(MMAB):c.*509C>T
|
rs886048923
|
0.00010
|
NM_000254.3(MTR):c.2013C>T (p.Val671=)
|
rs147141232
|
0.00009
|
NM_000254.3(MTR):c.2686C>T (p.Leu896=)
|
rs147762307
|
0.00009
|
NM_000254.3(MTR):c.3007+20C>A
|
rs149877608
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000254.3(MTR):c.355A>G (p.Met119Val)
|
rs538707626
|
0.00009
|
NM_000355.4(TCN2):c.*520T>C
|
rs953408654
|
0.00009
|
NM_000355.4(TCN2):c.1056G>A (p.Gly352=)
|
rs370869901
|
0.00009
|
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly)
|
rs145474456
|
0.00009
|
NM_000355.4(TCN2):c.427+18G>A
|
rs373712632
|
0.00009
|
NM_000355.4(TCN2):c.883G>A (p.Val295Ile)
|
rs770684965
|
0.00009
|
NM_001062.4(TCN1):c.1121+9G>A
|
rs370054474
|
0.00009
|
NM_001062.4(TCN1):c.683T>C (p.Ile228Thr)
|
rs143824687
|
0.00009
|
NM_001081.4(CUBN):c.10351G>A (p.Asp3451Asn)
|
rs145661638
|
0.00009
|
NM_001081.4(CUBN):c.10736C>T (p.Ser3579Phe)
|
rs754645310
|
0.00009
|
NM_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2483G>A (p.Arg828His)
|
rs199527884
|
0.00009
|
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)
|
rs147955566
|
0.00009
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001081.4(CUBN):c.3672+18A>C
|
rs752240965
|
0.00009
|
NM_001081.4(CUBN):c.536G>T (p.Gly179Val)
|
rs370373276
|
0.00009
|
NM_001081.4(CUBN):c.5862G>A (p.Lys1954=)
|
rs181991723
|
0.00009
|
NM_001081.4(CUBN):c.614C>T (p.Thr205Met)
|
rs374652141
|
0.00009
|
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)
|
rs537292240
|
0.00009
|
NM_001081.4(CUBN):c.8825A>G (p.Asn2942Ser)
|
rs766855509
|
0.00009
|
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)
|
rs370778353
|
0.00009
|
NM_001081.4(CUBN):c.9139A>G (p.Ile3047Val)
|
rs376118603
|
0.00009
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
NM_002454.3(MTRR):c.495C>T (p.Gly165=)
|
rs139333376
|
0.00009
|
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)
|
rs368445200
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
0.00009
|
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
|
rs199554411
|
0.00009
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)
|
rs199641732
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_015702.3(MMADHC):c.-16A>G
|
rs144111552
|
0.00009
|
NM_018368.4(LMBRD1):c.*26A>G
|
rs758279877
|
0.00009
|
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
0.00009
|
NM_030943.4(AMN):c.1123G>C (p.Val375Leu)
|
rs759831593
|
0.00009
|
NM_030943.4(AMN):c.345G>A (p.Pro115=)
|
rs749947054
|
0.00009
|
NM_052845.4(MMAB):c.*301C>T
|
rs1053960970
|
0.00009
|
NM_052845.4(MMAB):c.387G>A (p.Ala129=)
|
rs549807022
|
0.00009
|
NM_052845.4(MMAB):c.561C>T (p.Ala187=)
|
rs370773720
|
0.00009
|
NM_172250.3(MMAA):c.*2808G>A
|
rs543019315
|
0.00009
|
NM_172250.3(MMAA):c.*4539T>G
|
rs558703264
|
0.00009
|
NM_172250.3(MMAA):c.440-6C>T
|
rs374784209
|
0.00009
|
NM_172250.3(MMAA):c.7A>G (p.Met3Val)
|
rs527340737
|
0.00009
|
NM_172250.3(MMAA):c.940C>T (p.Arg314Cys)
|
rs374795215
|
0.00009
|
NM_000254.3(MTR):c.2196+19G>T
|
rs372533462
|
0.00008
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
NM_000355.4(TCN2):c.210C>T (p.Asp70=)
|
rs148829072
|
0.00008
|
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser)
|
rs199728304
|
0.00008
|
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
|
rs200771616
|
0.00008
|
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn)
|
rs375193056
|
0.00008
|
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys)
|
rs376839271
|
0.00008
|
NM_001062.4(TCN1):c.1241-7T>A
|
rs372679225
|
0.00008
|
NM_001081.4(CUBN):c.10576G>A (p.Gly3526Ser)
|
rs200330356
|
0.00008
|
NM_001081.4(CUBN):c.10838G>A (p.Arg3613His)
|
rs148626202
|
0.00008
|
NM_001081.4(CUBN):c.1234A>G (p.Thr412Ala)
|
rs748933632
|
0.00008
|
NM_001081.4(CUBN):c.2446+11A>G
|
rs372125740
|
0.00008
|
NM_001081.4(CUBN):c.3824G>A (p.Arg1275Gln)
|
rs755862991
|
0.00008
|
NM_001081.4(CUBN):c.4216G>A (p.Gly1406Arg)
|
rs771763775
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.6320A>C (p.Lys2107Thr)
|
rs368864485
|
0.00008
|
NM_001081.4(CUBN):c.6613G>A (p.Gly2205Arg)
|
rs140883483
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001081.4(CUBN):c.8765G>A (p.Ser2922Asn)
|
rs777692110
|
0.00008
|
NM_001081.4(CUBN):c.9524C>A (p.Ser3175Ter)
|
rs368697251
|
0.00008
|
NM_002454.3(MTRR):c.1058-17C>T
|
rs754619256
|
0.00008
|
NM_002454.3(MTRR):c.129+10G>A
|
rs6413427
|
0.00008
|
NM_002454.3(MTRR):c.1676+3A>G
|
rs369853875
|
0.00008
|
NM_005142.3(CBLIF):c.1190A>T (p.Glu397Val)
|
rs150005713
|
0.00008
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)
|
rs138504371
|
0.00008
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)
|
rs782684668
|
0.00008
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
NM_015702.3(MMADHC):c.610-12C>A
|
rs371855955
|
0.00008
|
NM_018368.4(LMBRD1):c.1188+17del
|
rs538437940
|
0.00008
|
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn)
|
rs200639044
|
0.00008
|
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr)
|
rs143758103
|
0.00008
|
NM_030943.4(AMN):c.1258-8C>T
|
rs750073599
|
0.00008
|
NM_052845.4(MMAB):c.584+15G>A
|
rs750655720
|
0.00008
|
NM_052845.4(MMAB):c.644+7G>A
|
rs147637814
|
0.00008
|
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
|
rs142447736
|
0.00008
|
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp)
|
rs6812252
|
0.00008
|
NM_000254.3(MTR):c.2474-3T>A
|
rs771491872
|
0.00007
|
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=)
|
rs777595935
|
0.00007
|
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=)
|
rs560615373
|
0.00007
|
NM_000254.3(MTR):c.558C>T (p.Gly186=)
|
rs139019399
|
0.00007
|
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=)
|
rs375447234
|
0.00007
|
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr)
|
rs763642038
|
0.00007
|
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)
|
rs150358307
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001081.4(CUBN):c.1715A>T (p.His572Leu)
|
rs368231433
|
0.00007
|
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)
|
rs201138390
|
0.00007
|
NM_001081.4(CUBN):c.4129C>T (p.Arg1377Cys)
|
rs763563422
|
0.00007
|
NM_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.5794G>C (p.Glu1932Gln)
|
rs749462295
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001081.4(CUBN):c.7990C>G (p.Gln2664Glu)
|
rs575118918
|
0.00007
|
NM_001081.4(CUBN):c.8301A>G (p.Ser2767=)
|
rs377258631
|
0.00007
|
NM_001081.4(CUBN):c.8891C>G (p.Ser2964Cys)
|
rs148348845
|
0.00007
|
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)
|
rs372106115
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_002454.3(MTRR):c.1998A>C (p.Gln666His)
|
rs767507060
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_002454.3(MTRR):c.519A>G (p.Ala173=)
|
rs776844185
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_005050.4(ABCD4):c.1752+5C>T
|
rs370270229
|
0.00007
|
NM_005050.4(ABCD4):c.425+6C>T
|
rs368213518
|
0.00007
|
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
|
rs143479125
|
0.00007
|
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
|
rs753233201
|
0.00007
|
NM_005142.3(CBLIF):c.59C>T (p.Thr20Ile)
|
rs759872025
|
0.00007
|
NM_005334.3(HCFC1):c.1085-16C>G
|
rs201181843
|
0.00007
|
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
|
rs782754046
|
0.00007
|
NM_005334.3(HCFC1):c.2029-9C>G
|
rs374910917
|
0.00007
|
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)
|
rs782058954
|
0.00007
|
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)
|
rs183246703
|
0.00007
|
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
0.00007
|
NM_016579.4(CD320):c.277C>T (p.Pro93Ser)
|
rs377236965
|
0.00007
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
NM_018368.4(LMBRD1):c.636+14G>T
|
rs376670737
|
0.00007
|
NM_030943.4(AMN):c.197T>C (p.Val66Ala)
|
rs371713937
|
0.00007
|
NM_030943.4(AMN):c.841C>T (p.Leu281=)
|
rs569327877
|
0.00007
|
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
|
rs769048646
|
0.00007
|
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
|
rs138708209
|
0.00007
|
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)
|
rs140881518
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_172250.3(MMAA):c.1236A>G (p.Lys412=)
|
rs184111056
|
0.00007
|
NM_172250.3(MMAA):c.733+13T>C
|
rs768662983
|
0.00007
|
NM_172250.3(MMAA):c.977G>A (p.Arg326His)
|
rs201547892
|
0.00007
|
NM_000254.3(MTR):c.1076-11C>T
|
rs186367553
|
0.00006
|
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr)
|
rs368619885
|
0.00006
|
NM_000254.3(MTR):c.2861C>T (p.Thr954Met)
|
rs146931200
|
0.00006
|
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys)
|
rs769801712
|
0.00006
|
NM_000254.3(MTR):c.502+13C>T
|
rs201647375
|
0.00006
|
NM_000254.3(MTR):c.55C>T (p.Arg19Trp)
|
rs376681897
|
0.00006
|
NM_000254.3(MTR):c.901C>G (p.Pro301Ala)
|
rs766371534
|
0.00006
|
NM_000254.3(MTR):c.996-20T>C
|
rs772967310
|
0.00006
|
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=)
|
rs369589347
|
0.00006
|
NM_000355.4(TCN2):c.139C>A (p.Leu47Met)
|
rs200833932
|
0.00006
|
NM_000355.4(TCN2):c.257+13T>A
|
rs375247830
|
0.00006
|
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe)
|
rs747887520
|
0.00006
|
NM_000355.4(TCN2):c.64+13C>T
|
rs370228236
|
0.00006
|
NM_000355.4(TCN2):c.667A>G (p.Ile223Val)
|
rs144889471
|
0.00006
|
NM_001062.4(TCN1):c.473A>G (p.Asn158Ser)
|
rs200198188
|
0.00006
|
NM_001062.4(TCN1):c.954C>T (p.Ser318=)
|
rs138846758
|
0.00006
|
NM_001081.4(CUBN):c.*298G>A
|
rs529415832
|
0.00006
|
NM_001081.4(CUBN):c.*416G>A
|
rs886046856
|
0.00006
|
NM_001081.4(CUBN):c.165G>A (p.Thr55=)
|
rs370127775
|
0.00006
|
NM_001081.4(CUBN):c.1999A>G (p.Thr667Ala)
|
rs141089159
|
0.00006
|
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)
|
rs763524933
|
0.00006
|
NM_001081.4(CUBN):c.2610A>G (p.Glu870=)
|
rs143471343
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.3802C>T (p.Arg1268Cys)
|
rs747558831
|
0.00006
|
NM_001081.4(CUBN):c.5092G>A (p.Gly1698Ser)
|
rs201661017
|
0.00006
|
NM_001081.4(CUBN):c.5210-7C>G
|
rs760324864
|
0.00006
|
NM_001081.4(CUBN):c.6187C>T (p.Arg2063Trp)
|
rs781180388
|
0.00006
|
NM_001081.4(CUBN):c.7106G>T (p.Gly2369Val)
|
rs200593316
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8056T>C (p.Phe2686Leu)
|
rs755819982
|
0.00006
|
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=)
|
rs775837120
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
0.00006
|
NM_001081.4(CUBN):c.9298G>A (p.Asp3100Asn)
|
rs202189846
|
0.00006
|
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)
|
rs769915505
|
0.00006
|
NM_002454.3(MTRR):c.1370+18C>T
|
rs374485961
|
0.00006
|
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg)
|
rs150411351
|
0.00006
|
NM_002454.3(MTRR):c.383A>G (p.His128Arg)
|
rs185235284
|
0.00006
|
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser)
|
rs375421492
|
0.00006
|
NM_005050.4(ABCD4):c.1518G>A (p.Val506=)
|
rs372838114
|
0.00006
|
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)
|
rs776137988
|
0.00006
|
NM_005142.3(CBLIF):c.1055G>A (p.Arg352His)
|
rs771992791
|
0.00006
|
NM_005142.3(CBLIF):c.379G>A (p.Ala127Thr)
|
rs760404861
|
0.00006
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
NM_005334.3(HCFC1):c.1803+13C>T
|
rs368179780
|
0.00006
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=)
|
rs782207714
|
0.00006
|
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)
|
rs372071273
|
0.00006
|
NM_015506.3(MMACHC):c.*10A>G
|
rs367574509
|
0.00006
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)
|
rs370596113
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
NM_015702.3(MMADHC):c.*241A>G
|
rs528409808
|
0.00006
|
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)
|
rs767542742
|
0.00006
|
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
NM_016579.4(CD320):c.143-4G>A
|
rs371174438
|
0.00006
|
NM_016579.4(CD320):c.588C>G (p.Ala196=)
|
rs776070970
|
0.00006
|
NM_016579.4(CD320):c.761G>A (p.Arg254Gln)
|
rs369347295
|
0.00006
|
NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr)
|
rs375328924
|
0.00006
|
NM_018368.4(LMBRD1):c.1410T>G (p.Ala470=)
|
rs761693513
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_018368.4(LMBRD1):c.637-13G>A
|
rs776621535
|
0.00006
|
NM_018368.4(LMBRD1):c.94T>C (p.Tyr32His)
|
rs373241693
|
0.00006
|
NM_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
0.00006
|
NM_030943.4(AMN):c.805C>T (p.Arg269Trp)
|
rs200712130
|
0.00006
|
NM_052845.4(MMAB):c.*1683G>A
|
rs572832766
|
0.00006
|
NM_052845.4(MMAB):c.*335G>A
|
rs745373257
|
0.00006
|
NM_052845.4(MMAB):c.*691A>C
|
rs886048922
|
0.00006
|
NM_052845.4(MMAB):c.150G>A (p.Ser50=)
|
rs754357121
|
0.00006
|
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
|
rs764683053
|
0.00006
|
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
|
rs143935056
|
0.00006
|
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn)
|
rs925180956
|
0.00006
|
NM_172250.3(MMAA):c.*2645C>T
|
rs568954220
|
0.00006
|
NM_172250.3(MMAA):c.*4228T>C
|
rs533826043
|
0.00006
|
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr)
|
rs777459994
|
0.00006
|
NM_172250.3(MMAA):c.701C>T (p.Ala234Val)
|
rs367609164
|
0.00006
|
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
|
rs758654806
|
0.00006
|
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
|
rs142126209
|
0.00006
|
NM_172250.3(MMAA):c.947G>A (p.Arg316His)
|
rs377228966
|
0.00006
|
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser)
|
rs147670189
|
0.00005
|
NM_000254.3(MTR):c.2235C>T (p.Gly745=)
|
rs1453742538
|
0.00005
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
NM_000254.3(MTR):c.3384G>A (p.Ala1128=)
|
rs767454577
|
0.00005
|
NM_000254.3(MTR):c.759A>C (p.Pro253=)
|
rs752365220
|
0.00005
|
NM_000254.3(MTR):c.764+6T>C
|
rs377357761
|
0.00005
|
NM_000355.4(TCN2):c.-34A>G
|
rs199511962
|
0.00005
|
NM_000355.4(TCN2):c.1053C>T (p.Ala351=)
|
rs142555281
|
0.00005
|
NM_000355.4(TCN2):c.1272G>A (p.Leu424=)
|
rs560391371
|
0.00005
|
NM_000355.4(TCN2):c.279C>T (p.Asp93=)
|
rs138467610
|
0.00005
|
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn)
|
rs775586639
|
0.00005
|
NM_000355.4(TCN2):c.428-2_428-1del
|
rs955351335
|
0.00005
|
NM_000355.4(TCN2):c.857C>T (p.Ala286Val)
|
rs149231407
|
0.00005
|
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser)
|
rs149299209
|
0.00005
|
NM_001062.4(TCN1):c.99C>T (p.Tyr33=)
|
rs376377467
|
0.00005
|
NM_001081.4(CUBN):c.*195T>C
|
rs886046859
|
0.00005
|
NM_001081.4(CUBN):c.*470T>C
|
rs886046855
|
0.00005
|
NM_001081.4(CUBN):c.10102A>G (p.Met3368Val)
|
rs767333853
|
0.00005
|
NM_001081.4(CUBN):c.10235C>T (p.Pro3412Leu)
|
rs556303931
|
0.00005
|
NM_001081.4(CUBN):c.113A>G (p.Asn38Ser)
|
rs776471095
|
0.00005
|
NM_001081.4(CUBN):c.1230C>T (p.Ile410=)
|
rs144627803
|
0.00005
|
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp)
|
rs564637804
|
0.00005
|
NM_001081.4(CUBN):c.2476G>A (p.Val826Ile)
|
rs141874896
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.4420C>T (p.Pro1474Ser)
|
rs201251467
|
0.00005
|
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=)
|
rs768720429
|
0.00005
|
NM_001081.4(CUBN):c.4797G>T (p.Leu1599Phe)
|
rs201294291
|
0.00005
|
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)
|
rs532968940
|
0.00005
|
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)
|
rs201958183
|
0.00005
|
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser)
|
rs144565631
|
0.00005
|
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=)
|
rs779269108
|
0.00005
|
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=)
|
rs751019710
|
0.00005
|
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=)
|
rs376662992
|
0.00005
|
NM_001081.4(CUBN):c.9681T>A (p.Ser3227Arg)
|
rs773439837
|
0.00005
|
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)
|
rs374239028
|
0.00005
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)
|
rs757635349
|
0.00005
|
NM_005050.4(ABCD4):c.1028+5G>A
|
rs533842238
|
0.00005
|
NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
0.00005
|
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)
|
rs141808601
|
0.00005
|
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)
|
rs538521064
|
0.00005
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)
|
rs200268397
|
0.00005
|
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)
|
rs201117046
|
0.00005
|
NM_005334.3(HCFC1):c.1606-13G>A
|
rs782300809
|
0.00005
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
NM_005334.3(HCFC1):c.1804-18C>T
|
rs1057522797
|
0.00005
|
NM_005334.3(HCFC1):c.2134-20C>A
|
rs368718262
|
0.00005
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
|
rs782045987
|
0.00005
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
0.00005
|
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
|
rs781804858
|
0.00005
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)
|
rs782354655
|
0.00005
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_018368.4(LMBRD1):c.-117C>T
|
rs550933505
|
0.00005
|
NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met)
|
rs767657325
|
0.00005
|
NM_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
0.00005
|
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
|
rs142962811
|
0.00005
|
NM_030943.4(AMN):c.175C>T (p.Leu59=)
|
rs199629027
|
0.00005
|
NM_030943.4(AMN):c.400C>G (p.Arg134Gly)
|
rs758317090
|
0.00005
|
NM_052845.4(MMAB):c.*424G>A
|
rs551461624
|
0.00005
|
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)
|
rs551289581
|
0.00005
|
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
|
rs367711757
|
0.00005
|
NM_052845.4(MMAB):c.562G>A (p.Val188Met)
|
rs768176676
|
0.00005
|
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
|
rs142070439
|
0.00005
|
NM_172250.3(MMAA):c.*3087A>G
|
rs983988317
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn)
|
rs778178659
|
0.00005
|
NM_172250.3(MMAA):c.1221A>G (p.Ala407=)
|
rs767115507
|
0.00005
|
NM_172250.3(MMAA):c.175G>C (p.Asp59His)
|
rs371779800
|
0.00005
|
NM_172250.3(MMAA):c.912G>A (p.Ala304=)
|
rs371769807
|
0.00005
|
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln)
|
rs140031911
|
0.00005
|
NM_000254.3(MTR):c.1086C>G (p.Pro362=)
|
rs779393795
|
0.00004
|
NM_000254.3(MTR):c.1128G>A (p.Glu376=)
|
rs759636736
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala)
|
rs144374509
|
0.00004
|
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg)
|
rs750824195
|
0.00004
|
NM_000254.3(MTR):c.2326G>A (p.Val776Met)
|
rs542575330
|
0.00004
|
NM_000254.3(MTR):c.2328G>T (p.Val776=)
|
rs980038551
|
0.00004
|
NM_000254.3(MTR):c.2474-20T>A
|
rs377347275
|
0.00004
|
NM_000254.3(MTR):c.250-1G>C
|
rs145939391
|
0.00004
|
NM_000254.3(MTR):c.2703A>G (p.Leu901=)
|
rs780615625
|
0.00004
|
NM_000254.3(MTR):c.2718T>C (p.Phe906=)
|
rs371962565
|
0.00004
|
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp)
|
rs201015844
|
0.00004
|
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln)
|
rs556429682
|
0.00004
|
NM_000254.3(MTR):c.356T>C (p.Met119Thr)
|
rs151161326
|
0.00004
|
NM_000254.3(MTR):c.632A>G (p.Asn211Ser)
|
rs546918671
|
0.00004
|
NM_000254.3(MTR):c.659G>A (p.Arg220Gln)
|
rs780526997
|
0.00004
|
NM_000254.3(MTR):c.996-5C>T
|
rs914525473
|
0.00004
|
NM_000355.3(TCN2):c.-191G>A
|
rs886057394
|
0.00004
|
NM_000355.3(TCN2):c.-240G>A
|
rs16988823
|
0.00004
|
NM_000355.4(TCN2):c.1089T>G (p.His363Gln)
|
rs772074405
|
0.00004
|
NM_000355.4(TCN2):c.114C>T (p.Leu38=)
|
rs377673954
|
0.00004
|
NM_000355.4(TCN2):c.225C>T (p.Ser75=)
|
rs776322424
|
0.00004
|
NM_000355.4(TCN2):c.282T>C (p.Gly94=)
|
rs766893729
|
0.00004
|
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu)
|
rs752901101
|
0.00004
|
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly)
|
rs534564986
|
0.00004
|
NM_000355.4(TCN2):c.49C>G (p.Leu17Val)
|
rs759462885
|
0.00004
|
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln)
|
rs759762355
|
0.00004
|
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile)
|
rs147738100
|
0.00004
|
NM_001062.4(TCN1):c.542G>A (p.Ser181Asn)
|
rs145017990
|
0.00004
|
NM_001081.3(CUBN):c.-50G>A
|
rs370711661
|
0.00004
|
NM_001081.4(CUBN):c.*597A>C
|
rs569828144
|
0.00004
|
NM_001081.4(CUBN):c.10282C>T (p.Pro3428Ser)
|
rs117570588
|
0.00004
|
NM_001081.4(CUBN):c.10327G>A (p.Glu3443Lys)
|
rs776263089
|
0.00004
|
NM_001081.4(CUBN):c.10363-3A>G
|
rs765943248
|
0.00004
|
NM_001081.4(CUBN):c.1719A>T (p.Leu573Phe)
|
rs148313915
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)
|
rs370770104
|
0.00004
|
NM_001081.4(CUBN):c.2256C>T (p.His752=)
|
rs140150973
|
0.00004
|
NM_001081.4(CUBN):c.258G>T (p.Gln86His)
|
rs778278804
|
0.00004
|
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys)
|
rs199835213
|
0.00004
|
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg)
|
rs201443885
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
NM_001081.4(CUBN):c.3692G>A (p.Ser1231Asn)
|
rs150277370
|
0.00004
|
NM_001081.4(CUBN):c.4301A>G (p.His1434Arg)
|
rs147373223
|
0.00004
|
NM_001081.4(CUBN):c.4423A>G (p.Met1475Val)
|
rs1290241240
|
0.00004
|
NM_001081.4(CUBN):c.4621C>T (p.Arg1541Trp)
|
rs146824506
|
0.00004
|
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=)
|
rs375723034
|
0.00004
|
NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)
|
rs748558881
|
0.00004
|
NM_001081.4(CUBN):c.535G>A (p.Gly179Arg)
|
rs772400701
|
0.00004
|
NM_001081.4(CUBN):c.5467A>G (p.Ile1823Val)
|
rs946315516
|
0.00004
|
NM_001081.4(CUBN):c.5549-5C>T
|
rs377583171
|
0.00004
|
NM_001081.4(CUBN):c.5957A>T (p.Asp1986Val)
|
rs772570411
|
0.00004
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6214C>T (p.Arg2072Cys)
|
rs149102355
|
0.00004
|
NM_001081.4(CUBN):c.6462+19C>G
|
rs372356491
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001081.4(CUBN):c.6849G>A (p.Arg2283=)
|
rs373804380
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7107G>A (p.Gly2369=)
|
rs145537365
|
0.00004
|
NM_001081.4(CUBN):c.7741A>C (p.Asn2581His)
|
rs762764264
|
0.00004
|
NM_001081.4(CUBN):c.7976T>C (p.Val2659Ala)
|
rs1007248288
|
0.00004
|
NM_001081.4(CUBN):c.8330A>G (p.Asn2777Ser)
|
rs757561186
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.8617G>A (p.Glu2873Lys)
|
rs142519035
|
0.00004
|
NM_001081.4(CUBN):c.8701G>A (p.Val2901Ile)
|
rs201093611
|
0.00004
|
NM_001081.4(CUBN):c.885C>T (p.Gly295=)
|
rs776211726
|
0.00004
|
NM_001081.4(CUBN):c.9036G>A (p.Pro3012=)
|
rs576867280
|
0.00004
|
NM_001081.4(CUBN):c.9442C>T (p.Arg3148Trp)
|
rs749089689
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
0.00004
|
NM_001081.4(CUBN):c.9555T>G (p.Cys3185Trp)
|
rs746114034
|
0.00004
|
NM_001081.4(CUBN):c.9714T>C (p.Gly3238=)
|
rs141513734
|
0.00004
|
NM_001081.4(CUBN):c.9878C>T (p.Ser3293Leu)
|
rs566296480
|
0.00004
|
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly)
|
rs1183944927
|
0.00004
|
NM_002454.3(MTRR):c.1095T>C (p.Ser365=)
|
rs1490381537
|
0.00004
|
NM_002454.3(MTRR):c.1147-16G>A
|
rs143842562
|
0.00004
|
NM_002454.3(MTRR):c.1165G>A (p.Val389Met)
|
rs774333382
|
0.00004
|
NM_002454.3(MTRR):c.1362G>A (p.Ser454=)
|
rs370978510
|
0.00004
|
NM_002454.3(MTRR):c.1557+18T>C
|
rs367589908
|
0.00004
|
NM_002454.3(MTRR):c.1677-8C>T
|
rs750976454
|
0.00004
|
NM_002454.3(MTRR):c.1677-9T>C
|
rs200734299
|
0.00004
|
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=)
|
rs143418731
|
0.00004
|
NM_002454.3(MTRR):c.2073C>T (p.Arg691=)
|
rs768387137
|
0.00004
|
NM_002454.3(MTRR):c.209G>A (p.Arg70His)
|
rs777202031
|
0.00004
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
NM_002454.3(MTRR):c.283+13C>G
|
rs368391537
|
0.00004
|
NM_002454.3(MTRR):c.402-19G>A
|
rs192942300
|
0.00004
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
0.00004
|
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu)
|
rs201557658
|
0.00004
|
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)
|
rs374984401
|
0.00004
|
NM_005050.4(ABCD4):c.1327+8C>T
|
rs199678602
|
0.00004
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005050.4(ABCD4):c.1752+7G>A
|
rs376322555
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)
|
rs747354548
|
0.00004
|
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
|
rs139683556
|
0.00004
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
0.00004
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
|
rs782410390
|
0.00004
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)
|
rs782064674
|
0.00004
|
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)
|
rs782369645
|
0.00004
|
NM_005334.3(HCFC1):c.6004+14G>A
|
rs371228352
|
0.00004
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
NM_015506.3(MMACHC):c.125C>T (p.Pro42Leu)
|
rs763226016
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)
|
rs1035201847
|
0.00004
|
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
|
rs141562335
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
|
rs779575471
|
0.00004
|
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)
|
rs745419717
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_016579.4(CD320):c.333C>T (p.Thr111=)
|
rs540057476
|
0.00004
|
NM_016579.4(CD320):c.497G>T (p.Gly166Val)
|
rs769438880
|
0.00004
|
NM_016579.4(CD320):c.657C>T (p.Ala219=)
|
rs368089898
|
0.00004
|
NM_016579.4(CD320):c.760C>T (p.Arg254Ter)
|
rs750760449
|
0.00004
|
NM_016579.4(CD320):c.88G>C (p.Gly30Arg)
|
rs1314256093
|
0.00004
|
NM_018368.4(LMBRD1):c.101G>A (p.Arg34His)
|
rs150831620
|
0.00004
|
NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln)
|
rs777374813
|
0.00004
|
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=)
|
rs779802824
|
0.00004
|
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)
|
rs751525924
|
0.00004
|
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
|
rs776133587
|
0.00004
|
NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu)
|
rs373481039
|
0.00004
|
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)
|
rs139154326
|
0.00004
|
NM_018368.4(LMBRD1):c.562+19A>T
|
rs200488577
|
0.00004
|
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
|
rs370829456
|
0.00004
|
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
|
rs772119224
|
0.00004
|
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
|
rs529198629
|
0.00004
|
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)
|
rs766287809
|
0.00004
|
NM_030943.4(AMN):c.1141C>T (p.Pro381Ser)
|
rs1345352857
|
0.00004
|
NM_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
NM_030943.4(AMN):c.123C>G (p.Thr41=)
|
rs758005290
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_030943.4(AMN):c.500C>T (p.Ser167Leu)
|
rs774698023
|
0.00004
|
NM_052845.4(MMAB):c.*2679G>C
|
rs546327751
|
0.00004
|
NM_052845.4(MMAB):c.*588C>T
|
rs1214904926
|
0.00004
|
NM_052845.4(MMAB):c.*815T>C
|
rs776724872
|
0.00004
|
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
|
rs752857938
|
0.00004
|
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile)
|
rs762404377
|
0.00004
|
NM_052845.4(MMAB):c.348+17C>T
|
rs202141416
|
0.00004
|
NM_052845.4(MMAB):c.349-9G>A
|
rs372577644
|
0.00004
|
NM_052845.4(MMAB):c.35T>C (p.Leu12Pro)
|
rs533819939
|
0.00004
|
NM_052845.4(MMAB):c.402G>A (p.Ser134=)
|
rs756766385
|
0.00004
|
NM_052845.4(MMAB):c.471C>T (p.Ile157=)
|
rs369581051
|
0.00004
|
NM_052845.4(MMAB):c.52C>A (p.Leu18Met)
|
rs374802787
|
0.00004
|
NM_052845.4(MMAB):c.542C>T (p.Ala181Val)
|
rs764164596
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_172250.3(MMAA):c.*1227A>T
|
rs375194713
|
0.00004
|
NM_172250.3(MMAA):c.*1284G>A
|
rs564976817
|
0.00004
|
NM_172250.3(MMAA):c.*2903C>T
|
rs886059110
|
0.00004
|
NM_172250.3(MMAA):c.*3703T>C
|
rs760429837
|
0.00004
|
NM_172250.3(MMAA):c.*4324G>A
|
rs910534961
|
0.00004
|
NM_172250.3(MMAA):c.*890G>A
|
rs771012374
|
0.00004
|
NM_172250.3(MMAA):c.-4G>A
|
rs374109118
|
0.00004
|
NM_172250.3(MMAA):c.378A>G (p.Val126=)
|
rs750237065
|
0.00004
|
NM_172250.3(MMAA):c.440-4G>A
|
rs780768376
|
0.00004
|
NM_172250.3(MMAA):c.562+11C>T
|
rs746737805
|
0.00004
|
NM_172250.3(MMAA):c.610A>G (p.Met204Val)
|
rs370375675
|
0.00004
|
NM_172250.3(MMAA):c.65G>A (p.Arg22Gln)
|
rs375682603
|
0.00004
|
NM_181697.3(PRDX1):c.515-1G>T
|
rs751828470
|
0.00004
|
NM_000254.3(MTR):c.1275A>G (p.Pro425=)
|
rs202147344
|
0.00003
|
NM_000254.3(MTR):c.1943G>A (p.Arg648His)
|
rs751565093
|
0.00003
|
NM_000254.3(MTR):c.2043+18G>C
|
rs763911562
|
0.00003
|
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile)
|
rs201755946
|
0.00003
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
NM_000254.3(MTR):c.2473+14A>G
|
rs193210789
|
0.00003
|
NM_000254.3(MTR):c.2474-19_2474-18insA
|
rs777429098
|
0.00003
|
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro)
|
rs146569329
|
0.00003
|
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter)
|
rs536238004
|
0.00003
|
NM_000254.3(MTR):c.3135C>T (p.His1045=)
|
rs775738419
|
0.00003
|
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser)
|
rs780045701
|
0.00003
|
NM_000254.3(MTR):c.3636T>C (p.Ala1212=)
|
rs767100856
|
0.00003
|
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys)
|
rs539987014
|
0.00003
|
NM_000355.4(TCN2):c.1063G>A (p.Val355Met)
|
rs780429477
|
0.00003
|
NM_000355.4(TCN2):c.1107-10C>T
|
rs764096609
|
0.00003
|
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe)
|
rs781309237
|
0.00003
|
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln)
|
rs760721315
|
0.00003
|
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser)
|
rs755866662
|
0.00003
|
NM_000355.4(TCN2):c.753+13C>A
|
rs771453023
|
0.00003
|
NM_000355.4(TCN2):c.787C>G (p.Leu263Val)
|
rs201848801
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_001062.4(TCN1):c.1005C>T (p.Ser335=)
|
rs772525551
|
0.00003
|
NM_001062.4(TCN1):c.1225G>A (p.Glu409Lys)
|
rs140632800
|
0.00003
|
NM_001062.4(TCN1):c.322G>A (p.Ala108Thr)
|
rs757531697
|
0.00003
|
NM_001081.4(CUBN):c.*15G>A
|
rs751434522
|
0.00003
|
NM_001081.4(CUBN):c.*297C>T
|
rs886046857
|
0.00003
|
NM_001081.4(CUBN):c.*373G>T
|
rs780298022
|
0.00003
|
NM_001081.4(CUBN):c.*380T>C
|
rs188873973
|
0.00003
|
NM_001081.4(CUBN):c.*669C>T
|
rs992917155
|
0.00003
|
NM_001081.4(CUBN):c.*81C>A
|
rs886046861
|
0.00003
|
NM_001081.4(CUBN):c.10710A>G (p.Thr3570=)
|
rs756639822
|
0.00003
|
NM_001081.4(CUBN):c.10764+1G>A
|
rs374982220
|
0.00003
|
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=)
|
rs146137990
|
0.00003
|
NM_001081.4(CUBN):c.1351G>A (p.Val451Ile)
|
rs746956601
|
0.00003
|
NM_001081.4(CUBN):c.1653C>T (p.Ser551=)
|
rs372499101
|
0.00003
|
NM_001081.4(CUBN):c.2318C>G (p.Thr773Ser)
|
rs200658389
|
0.00003
|
NM_001081.4(CUBN):c.2452G>A (p.Gly818Arg)
|
rs141274853
|
0.00003
|
NM_001081.4(CUBN):c.260A>G (p.Lys87Arg)
|
rs754451499
|
0.00003
|
NM_001081.4(CUBN):c.2863G>A (p.Gly955Ser)
|
rs567450170
|
0.00003
|
NM_001081.4(CUBN):c.3745C>T (p.Arg1249Cys)
|
rs368224687
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.4169-16C>T
|
rs779680778
|
0.00003
|
NM_001081.4(CUBN):c.4721T>C (p.Met1574Thr)
|
rs144132364
|
0.00003
|
NM_001081.4(CUBN):c.4739C>T (p.Thr1580Met)
|
rs550619948
|
0.00003
|
NM_001081.4(CUBN):c.4773C>T (p.Val1591=)
|
rs368529044
|
0.00003
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=)
|
rs368934375
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_001081.4(CUBN):c.6180G>A (p.Gly2060=)
|
rs534571792
|
0.00003
|
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=)
|
rs758743854
|
0.00003
|
NM_001081.4(CUBN):c.6277G>A (p.Gly2093Ser)
|
rs759351780
|
0.00003
|
NM_001081.4(CUBN):c.6962G>T (p.Ser2321Ile)
|
rs374628341
|
0.00003
|
NM_001081.4(CUBN):c.7026G>A (p.Gly2342=)
|
rs370800945
|
0.00003
|
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)
|
rs760990753
|
0.00003
|
NM_001081.4(CUBN):c.7403A>G (p.Tyr2468Cys)
|
rs757744293
|
0.00003
|
NM_001081.4(CUBN):c.8016C>T (p.Asn2672=)
|
rs151303316
|
0.00003
|
NM_001081.4(CUBN):c.8465C>T (p.Pro2822Leu)
|
rs776663892
|
0.00003
|
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=)
|
rs748450206
|
0.00003
|
NM_001081.4(CUBN):c.8502G>A (p.Thr2834=)
|
rs749545791
|
0.00003
|
NM_001081.4(CUBN):c.8921C>T (p.Thr2974Met)
|
rs374477671
|
0.00003
|
NM_001081.4(CUBN):c.8971A>T (p.Met2991Leu)
|
rs147160034
|
0.00003
|
NM_001081.4(CUBN):c.9166G>A (p.Ala3056Thr)
|
rs569915247
|
0.00003
|
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=)
|
rs143405367
|
0.00003
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
NM_002454.3(MTRR):c.1188T>C (p.Ala396=)
|
rs763760088
|
0.00003
|
NM_002454.3(MTRR):c.1287C>T (p.Leu429=)
|
rs551079367
|
0.00003
|
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile)
|
rs755408035
|
0.00003
|
NM_002454.3(MTRR):c.246G>C (p.Pro82=)
|
rs149300444
|
0.00003
|
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp)
|
rs773984668
|
0.00003
|
NM_002454.3(MTRR):c.402-20C>T
|
rs565590605
|
0.00003
|
NM_005050.4(ABCD4):c.1028+9G>A
|
rs982830151
|
0.00003
|
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)
|
rs747987460
|
0.00003
|
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
|
rs763882047
|
0.00003
|
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
|
rs371692280
|
0.00003
|
NM_005050.4(ABCD4):c.425+7G>A
|
rs375608814
|
0.00003
|
NM_005142.3(CBLIF):c.1221C>T (p.His407=)
|
rs148989677
|
0.00003
|
NM_005142.3(CBLIF):c.371-15C>T
|
rs759810252
|
0.00003
|
NM_005142.3(CBLIF):c.854A>G (p.Gln285Arg)
|
rs886048402
|
0.00003
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
|
rs201491358
|
0.00003
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
NM_005334.3(HCFC1):c.5379+20G>A
|
rs371712410
|
0.00003
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
|
rs763931975
|
0.00003
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)
|
rs761111018
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)
|
rs747527726
|
0.00003
|
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)
|
rs201266016
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_015506.3(MMACHC):c.831T>C (p.Pro277=)
|
rs1322086708
|
0.00003
|
NM_015702.3(MMADHC):c.*267T>C
|
rs546054980
|
0.00003
|
NM_016579.4(CD320):c.731C>T (p.Thr244Ile)
|
rs557939985
|
0.00003
|
NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val)
|
rs561540830
|
0.00003
|
NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val)
|
rs771282181
|
0.00003
|
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
0.00003
|
NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly)
|
rs759703455
|
0.00003
|
NM_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
0.00003
|
NM_030943.4(AMN):c.448T>C (p.Phe150Leu)
|
rs1039668619
|
0.00003
|
NM_030943.4(AMN):c.811C>T (p.Arg271Trp)
|
rs765147150
|
0.00003
|
NM_052845.4(MMAB):c.*1428C>T
|
rs757325398
|
0.00003
|
NM_052845.4(MMAB):c.*2739C>T
|
rs759550993
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu)
|
rs765917146
|
0.00003
|
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
|
rs573706523
|
0.00003
|
NM_052845.4(MMAB):c.507C>T (p.Ala169=)
|
rs776916498
|
0.00003
|
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
|
rs368584846
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys)
|
rs199853576
|
0.00003
|
NM_052845.4(MMAB):c.644+9G>A
|
rs748589454
|
0.00003
|
NM_052845.4(MMAB):c.732G>A (p.Ser244=)
|
rs186864802
|
0.00003
|
NM_172250.3(MMAA):c.*1273C>T
|
rs1001420347
|
0.00003
|
NM_172250.3(MMAA):c.*1940T>C
|
rs1054381866
|
0.00003
|
NM_172250.3(MMAA):c.*3801A>G
|
rs886059116
|
0.00003
|
NM_172250.3(MMAA):c.*4457A>G
|
rs896375111
|
0.00003
|
NM_172250.3(MMAA):c.-71G>C
|
rs992491091
|
0.00003
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_172250.3(MMAA):c.563-12T>C
|
rs199938583
|
0.00003
|
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln)
|
rs144389160
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_172250.3(MMAA):c.787C>T (p.Leu263=)
|
rs759947234
|
0.00003
|
NM_172250.3(MMAA):c.970-5G>A
|
rs370814663
|
0.00003
|
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser)
|
rs1286773616
|
0.00002
|
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys)
|
rs138876566
|
0.00002
|
NM_000254.3(MTR):c.1395G>A (p.Gly465=)
|
rs372015549
|
0.00002
|
NM_000254.3(MTR):c.1434G>A (p.Glu478=)
|
rs747176647
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu)
|
rs1479249107
|
0.00002
|
NM_000254.3(MTR):c.179C>G (p.Ala60Gly)
|
rs775827591
|
0.00002
|
NM_000254.3(MTR):c.1953+7A>G
|
rs777871271
|
0.00002
|
NM_000254.3(MTR):c.2109A>G (p.Arg703=)
|
rs565935347
|
0.00002
|
NM_000254.3(MTR):c.259C>T (p.Leu87=)
|
rs751808381
|
0.00002
|
NM_000254.3(MTR):c.2772C>G (p.Leu924=)
|
rs533541925
|
0.00002
|
NM_000254.3(MTR):c.2775+17G>T
|
rs763995449
|
0.00002
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
0.00002
|
NM_000254.3(MTR):c.2910G>A (p.Val970=)
|
rs769690083
|
0.00002
|
NM_000254.3(MTR):c.339+19C>T
|
rs199843808
|
0.00002
|
NM_000254.3(MTR):c.3598+15G>A
|
rs754129736
|
0.00002
|
NM_000254.3(MTR):c.388G>A (p.Glu130Lys)
|
rs755894287
|
0.00002
|
NM_000254.3(MTR):c.486G>A (p.Pro162=)
|
rs747494979
|
0.00002
|
NM_000254.3(MTR):c.711C>T (p.Ser237=)
|
rs775774568
|
0.00002
|
NM_000254.3(MTR):c.821T>C (p.Ile274Thr)
|
rs368380397
|
0.00002
|
NM_000254.3(MTR):c.899C>T (p.Thr300Met)
|
rs201871910
|
0.00002
|
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu)
|
rs1017195499
|
0.00002
|
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe)
|
rs761778896
|
0.00002
|
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe)
|
rs572942248
|
0.00002
|
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser)
|
rs746024609
|
0.00002
|
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)
|
rs773473997
|
0.00002
|
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys)
|
rs757905563
|
0.00002
|
NM_000355.4(TCN2):c.258-10C>T
|
rs757142216
|
0.00002
|
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys)
|
rs559879608
|
0.00002
|
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg)
|
rs368757546
|
0.00002
|
NM_000355.4(TCN2):c.390G>A (p.Gln130=)
|
rs565849474
|
0.00002
|
NM_000355.4(TCN2):c.568C>T (p.His190Tyr)
|
rs757378346
|
0.00002
|
NM_000355.4(TCN2):c.65-8T>C
|
rs773798398
|
0.00002
|
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp)
|
rs754057087
|
0.00002
|
NM_000355.4(TCN2):c.753+5G>A
|
rs749028271
|
0.00002
|
NM_000355.4(TCN2):c.753+8A>G
|
rs778117023
|
0.00002
|
NM_000355.4(TCN2):c.846C>T (p.Ala282=)
|
rs745306636
|
0.00002
|
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe)
|
rs369458782
|
0.00002
|
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr)
|
rs754330583
|
0.00002
|
NM_000355.4(TCN2):c.944T>C (p.Met315Thr)
|
rs764172898
|
0.00002
|
NM_000355.4(TCN2):c.999G>A (p.Thr333=)
|
rs747578310
|
0.00002
|
NM_001062.4(TCN1):c.1114A>G (p.Ile372Val)
|
rs367928670
|
0.00002
|
NM_001062.4(TCN1):c.140A>G (p.Asn47Ser)
|
rs778331099
|
0.00002
|
NM_001062.4(TCN1):c.497T>C (p.Val166Ala)
|
rs200554043
|
0.00002
|
NM_001062.4(TCN1):c.556+5G>A
|
rs755195459
|
0.00002
|
NM_001081.4(CUBN):c.*564G>C
|
rs184284227
|
0.00002
|
NM_001081.4(CUBN):c.10136T>C (p.Val3379Ala)
|
rs1239695630
|
0.00002
|
NM_001081.4(CUBN):c.10187A>G (p.Asn3396Ser)
|
rs780850360
|
0.00002
|
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)
|
rs144484373
|
0.00002
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.10853G>A (p.Arg3618Gln)
|
rs780837561
|
0.00002
|
NM_001081.4(CUBN):c.1765+9G>A
|
rs780944597
|
0.00002
|
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile)
|
rs746111876
|
0.00002
|
NM_001081.4(CUBN):c.3517A>G (p.Ser1173Gly)
|
rs768104200
|
0.00002
|
NM_001081.4(CUBN):c.3546G>A (p.Pro1182=)
|
rs369417721
|
0.00002
|
NM_001081.4(CUBN):c.4034G>A (p.Arg1345Gln)
|
rs377486978
|
0.00002
|
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=)
|
rs563089365
|
0.00002
|
NM_001081.4(CUBN):c.4375T>G (p.Ser1459Ala)
|
rs886046875
|
0.00002
|
NM_001081.4(CUBN):c.4598A>G (p.Asn1533Ser)
|
rs1025505410
|
0.00002
|
NM_001081.4(CUBN):c.4811G>T (p.Gly1604Val)
|
rs751110627
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5758G>A (p.Ala1920Thr)
|
rs770772474
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001081.4(CUBN):c.5917A>G (p.Ile1973Val)
|
rs556462218
|
0.00002
|
NM_001081.4(CUBN):c.6005A>G (p.Asn2002Ser)
|
rs368261414
|
0.00002
|
NM_001081.4(CUBN):c.6125-5C>T
|
rs767744034
|
0.00002
|
NM_001081.4(CUBN):c.6282A>T (p.Gly2094=)
|
rs576557890
|
0.00002
|
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)
|
rs566060177
|
0.00002
|
NM_001081.4(CUBN):c.7218C>A (p.Ile2406=)
|
rs369069102
|
0.00002
|
NM_001081.4(CUBN):c.7330C>T (p.Arg2444Ter)
|
rs557208468
|
0.00002
|
NM_001081.4(CUBN):c.7534-5A>G
|
rs769047632
|
0.00002
|
NM_001081.4(CUBN):c.8017G>A (p.Glu2673Lys)
|
rs781304382
|
0.00002
|
NM_001081.4(CUBN):c.8204A>C (p.Asp2735Ala)
|
rs558369938
|
0.00002
|
NM_001081.4(CUBN):c.8254G>T (p.Gly2752Cys)
|
rs747786939
|
0.00002
|
NM_001081.4(CUBN):c.8382T>C (p.Phe2794=)
|
rs200808196
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_001081.4(CUBN):c.8831T>C (p.Met2944Thr)
|
rs544783535
|
0.00002
|
NM_001081.4(CUBN):c.9385C>T (p.Leu3129Phe)
|
rs762293500
|
0.00002
|
NM_001081.4(CUBN):c.9454G>A (p.Gly3152Arg)
|
rs772196844
|
0.00002
|
NM_002454.3(MTRR):c.1057+9C>T
|
rs752920631
|
0.00002
|
NM_002454.3(MTRR):c.1146+12T>C
|
rs775452380
|
0.00002
|
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly)
|
rs1239051004
|
0.00002
|
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter)
|
rs777997657
|
0.00002
|
NM_002454.3(MTRR):c.129+20A>T
|
rs758051759
|
0.00002
|
NM_002454.3(MTRR):c.1317T>C (p.Ser439=)
|
rs756279354
|
0.00002
|
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala)
|
rs777447397
|
0.00002
|
NM_002454.3(MTRR):c.1563C>T (p.Ser521=)
|
rs757184514
|
0.00002
|
NM_002454.3(MTRR):c.1575A>C (p.Arg525=)
|
rs369430052
|
0.00002
|
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr)
|
rs767321681
|
0.00002
|
NM_002454.3(MTRR):c.1641C>T (p.Thr547=)
|
rs1044675786
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002454.3(MTRR):c.1769+14C>T
|
rs760216011
|
0.00002
|
NM_002454.3(MTRR):c.1773A>G (p.Lys591=)
|
rs760394620
|
0.00002
|
NM_002454.3(MTRR):c.1959A>G (p.Ala653=)
|
rs763202690
|
0.00002
|
NM_002454.3(MTRR):c.280C>T (p.Leu94=)
|
rs1383637211
|
0.00002
|
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser)
|
rs763568058
|
0.00002
|
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe)
|
rs754157293
|
0.00002
|
NM_002454.3(MTRR):c.459T>C (p.His153=)
|
rs1485372093
|
0.00002
|
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter)
|
rs375908206
|
0.00002
|
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)
|
rs771010169
|
0.00002
|
NM_005050.4(ABCD4):c.1401C>T (p.Asp467=)
|
rs757799492
|
0.00002
|
NM_005050.4(ABCD4):c.1559+20G>A
|
rs572419384
|
0.00002
|
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)
|
rs141766346
|
0.00002
|
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)
|
rs761917106
|
0.00002
|
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)
|
rs763842574
|
0.00002
|
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
|
rs368694663
|
0.00002
|
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)
|
rs764251926
|
0.00002
|
NM_005142.3(CBLIF):c.1163T>C (p.Phe388Ser)
|
rs767310648
|
0.00002
|
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=)
|
rs150857406
|
0.00002
|
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)
|
rs398124206
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
NM_005334.3(HCFC1):c.4275C>T (p.His1425=)
|
rs782707963
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)
|
rs781961897
|
0.00002
|
NM_005334.3(HCFC1):c.4497+4A>G
|
rs782206577
|
0.00002
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
NM_005334.3(HCFC1):c.5261-17A>G
|
rs782143370
|
0.00002
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
NM_015506.3(MMACHC):c.-123A>T
|
rs539415170
|
0.00002
|
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)
|
rs1415635839
|
0.00002
|
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)
|
rs556977618
|
0.00002
|
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)
|
rs765769901
|
0.00002
|
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
|
rs775173474
|
0.00002
|
NM_015506.3(MMACHC):c.429+14T>G
|
rs371226986
|
0.00002
|
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)
|
rs757325789
|
0.00002
|
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)
|
rs371004372
|
0.00002
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)
|
rs398124295
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)
|
rs201269886
|
0.00002
|
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)
|
rs778330842
|
0.00002
|
NM_015506.3(MMACHC):c.840del (p.Gly281fs)
|
rs757384010
|
0.00002
|
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)
|
rs777544556
|
0.00002
|
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)
|
rs760971849
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter)
|
rs1431992617
|
0.00002
|
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
0.00002
|
NM_015702.3(MMADHC):c.697-3C>T
|
rs770272562
|
0.00002
|
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
|
rs756858861
|
0.00002
|
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
|
rs118204044
|
0.00002
|
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)
|
rs753424109
|
0.00002
|
NM_016579.4(CD320):c.126C>T (p.Thr42=)
|
rs551205813
|
0.00002
|
NM_016579.4(CD320):c.318C>T (p.Leu106=)
|
rs369646365
|
0.00002
|
NM_018368.4(LMBRD1):c.1188+7A>T
|
rs375681915
|
0.00002
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr)
|
rs1340799992
|
0.00002
|
NM_018368.4(LMBRD1):c.1418-16T>C
|
rs753105951
|
0.00002
|
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)
|
rs944285630
|
0.00002
|
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
|
rs775365046
|
0.00002
|
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=)
|
rs368494826
|
0.00002
|
NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser)
|
rs376076271
|
0.00002
|
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu)
|
rs771226867
|
0.00002
|
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
|
rs747354714
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
0.00002
|
NM_030943.4(AMN):c.1006G>A (p.Gly336Ser)
|
rs1339571276
|
0.00002
|
NM_030943.4(AMN):c.110G>A (p.Ser37Asn)
|
rs200648108
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
|
rs760175392
|
0.00002
|
NM_030943.4(AMN):c.532G>A (p.Asp178Asn)
|
rs575761625
|
0.00002
|
NM_052845.4(MMAB):c.*1747A>G
|
rs886048917
|
0.00002
|
NM_052845.4(MMAB):c.*2619A>T
|
rs778528128
|
0.00002
|
NM_052845.4(MMAB):c.*2783G>A
|
rs1012338830
|
0.00002
|
NM_052845.4(MMAB):c.*2890C>T
|
rs1005573398
|
0.00002
|
NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)
|
rs1481415459
|
0.00002
|
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
|
rs751553040
|
0.00002
|
NM_052845.4(MMAB):c.372C>T (p.Val124=)
|
rs371092213
|
0.00002
|
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser)
|
rs193015172
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
|
rs780166156
|
0.00002
|
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
|
rs1461731163
|
0.00002
|
NM_052845.4(MMAB):c.644+8C>T
|
rs770159367
|
0.00002
|
NM_052845.4(MMAB):c.645-6C>T
|
rs766039550
|
0.00002
|
NM_052845.4(MMAB):c.685A>G (p.Met229Val)
|
rs371960953
|
0.00002
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
NM_172250.3(MMAA):c.*152A>G
|
rs749564150
|
0.00002
|
NM_172250.3(MMAA):c.*1918G>A
|
rs755382235
|
0.00002
|
NM_172250.3(MMAA):c.*3222T>C
|
rs886059112
|
0.00002
|
NM_172250.3(MMAA):c.1059G>A (p.Gly353=)
|
rs552250080
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_172250.3(MMAA):c.1140G>A (p.Arg380=)
|
rs1209585004
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
|
rs772082690
|
0.00002
|
NM_172250.3(MMAA):c.585C>T (p.Thr195=)
|
rs571797666
|
0.00002
|
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
|
rs746853773
|
0.00002
|
NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)
|
rs369128670
|
0.00002
|
NM_172250.3(MMAA):c.970-6C>T
|
rs774402841
|
0.00002
|
NM_000254.3(MTR):c.1071G>A (p.Leu357=)
|
rs771474135
|
0.00001
|
NM_000254.3(MTR):c.1074T>C (p.Ser358=)
|
rs1430063160
|
0.00001
|
NM_000254.3(MTR):c.1076-16T>C
|
rs1363188046
|
0.00001
|
NM_000254.3(MTR):c.108G>A (p.Gly36=)
|
rs1057523951
|
0.00001
|
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro)
|
rs121913582
|
0.00001
|
NM_000254.3(MTR):c.127C>T (p.Arg43Trp)
|
rs757720946
|
0.00001
|
NM_000254.3(MTR):c.1311C>T (p.Ser437=)
|
rs777192214
|
0.00001
|
NM_000254.3(MTR):c.1329+15A>G
|
rs752303010
|
0.00001
|
NM_000254.3(MTR):c.1425G>A (p.Lys475=)
|
rs1464958347
|
0.00001
|
NM_000254.3(MTR):c.1483A>G (p.Met495Val)
|
rs775291294
|
0.00001
|
NM_000254.3(MTR):c.1566G>C (p.Leu522=)
|
rs779536088
|
0.00001
|
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala)
|
rs1663831931
|
0.00001
|
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp)
|
rs151031178
|
0.00001
|
NM_000254.3(MTR):c.1657T>C (p.Tyr553His)
|
rs767156705
|
0.00001
|
NM_000254.3(MTR):c.1695+15G>A
|
rs750838511
|
0.00001
|
NM_000254.3(MTR):c.1743C>T (p.Ser581=)
|
rs758784869
|
0.00001
|
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)
|
rs121913580
|
0.00001
|
NM_000254.3(MTR):c.1812+1G>A
|
rs778242201
|
0.00001
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
NM_000254.3(MTR):c.1954-6A>G
|
rs1553321372
|
0.00001
|
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys)
|
rs150058137
|
0.00001
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
NM_000254.3(MTR):c.2101del (p.Tyr701fs)
|
rs762727293
|
0.00001
|
NM_000254.3(MTR):c.2294T>C (p.Val765Ala)
|
rs931972359
|
0.00001
|
NM_000254.3(MTR):c.2304+4A>G
|
rs778478523
|
0.00001
|
NM_000254.3(MTR):c.2329C>G (p.Leu777Val)
|
rs758778075
|
0.00001
|
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr)
|
rs147387989
|
0.00001
|
NM_000254.3(MTR):c.2422G>A (p.Val808Ile)
|
rs745749921
|
0.00001
|
NM_000254.3(MTR):c.2446C>T (p.Leu816=)
|
rs1458770538
|
0.00001
|
NM_000254.3(MTR):c.2454T>C (p.Ala818=)
|
rs769066955
|
0.00001
|
NM_000254.3(MTR):c.2474-1G>C
|
rs757963570
|
0.00001
|
NM_000254.3(MTR):c.2594+3A>G
|
rs757969059
|
0.00001
|
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly)
|
rs149165917
|
0.00001
|
NM_000254.3(MTR):c.2763T>C (p.Tyr921=)
|
rs989945025
|
0.00001
|
NM_000254.3(MTR):c.2775+19T>C
|
rs1416410897
|
0.00001
|
NM_000254.3(MTR):c.2776-16C>T
|
rs770223976
|
0.00001
|
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys)
|
rs1416094227
|
0.00001
|
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys)
|
rs773190246
|
0.00001
|
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu)
|
rs772400119
|
0.00001
|
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg)
|
rs755595867
|
0.00001
|
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr)
|
rs1474412109
|
0.00001
|
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr)
|
rs756706737
|
0.00001
|
NM_000254.3(MTR):c.3205-196A>G
|
rs544410324
|
0.00001
|
NM_000254.3(MTR):c.325G>A (p.Gly109Ser)
|
rs746836137
|
0.00001
|
NM_000254.3(MTR):c.3281G>A (p.Arg1094His)
|
rs764803333
|
0.00001
|
NM_000254.3(MTR):c.3315T>C (p.Phe1105=)
|
rs1221565565
|
0.00001
|
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val)
|
rs759436870
|
0.00001
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
NM_000254.3(MTR):c.34+13C>A
|
rs370004550
|
0.00001
|
NM_000254.3(MTR):c.340-166A>G
|
rs1661117141
|
0.00001
|
NM_000254.3(MTR):c.340-3T>C
|
rs772591750
|
0.00001
|
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly)
|
rs781725496
|
0.00001
|
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter)
|
rs201718371
|
0.00001
|
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser)
|
rs1188027807
|
0.00001
|
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly)
|
rs369154176
|
0.00001
|
NM_000254.3(MTR):c.347G>A (p.Arg116Gln)
|
rs1414249194
|
0.00001
|
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys)
|
rs761657622
|
0.00001
|
NM_000254.3(MTR):c.3516C>T (p.Arg1172=)
|
rs750050502
|
0.00001
|
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg)
|
rs779312137
|
0.00001
|
NM_000254.3(MTR):c.443C>T (p.Pro148Leu)
|
rs757429726
|
0.00001
|
NM_000254.3(MTR):c.444G>A (p.Pro148=)
|
rs778868012
|
0.00001
|
NM_000254.3(MTR):c.586A>G (p.Ile196Val)
|
rs776426879
|
0.00001
|
NM_000254.3(MTR):c.669+11A>C
|
rs773271317
|
0.00001
|
NM_000254.3(MTR):c.712G>A (p.Gly238Arg)
|
rs934470002
|
0.00001
|
NM_000254.3(MTR):c.755A>G (p.Glu252Gly)
|
rs758776466
|
0.00001
|
NM_000355.4(TCN2):c.*329G>A
|
rs779850312
|
0.00001
|
NM_000355.4(TCN2):c.*37C>T
|
rs531866634
|
0.00001
|
NM_000355.4(TCN2):c.*383C>T
|
rs896720175
|
0.00001
|
NM_000355.4(TCN2):c.-67C>T
|
rs1432247695
|
0.00001
|
NM_000355.4(TCN2):c.1062C>T (p.Thr354=)
|
rs770733287
|
0.00001
|
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro)
|
rs1237571997
|
0.00001
|
NM_000355.4(TCN2):c.1086C>G (p.Ala362=)
|
rs553587653
|
0.00001
|
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter)
|
rs1057520098
|
0.00001
|
NM_000355.4(TCN2):c.109C>T (p.His37Tyr)
|
rs1326813642
|
0.00001
|
NM_000355.4(TCN2):c.1106+1G>A
|
rs766478911
|
0.00001
|
NM_000355.4(TCN2):c.1107-4G>A
|
rs1485846164
|
0.00001
|
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val)
|
rs2087720823
|
0.00001
|
NM_000355.4(TCN2):c.1150G>A (p.Val384Met)
|
rs144166182
|
0.00001
|
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val)
|
rs774428161
|
0.00001
|
NM_000355.4(TCN2):c.1167C>T (p.Ala389=)
|
rs369722707
|
0.00001
|
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg)
|
rs367605153
|
0.00001
|
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser)
|
rs749591278
|
0.00001
|
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val)
|
rs371229602
|
0.00001
|
NM_000355.4(TCN2):c.1230T>C (p.Ala410=)
|
rs1391122960
|
0.00001
|
NM_000355.4(TCN2):c.1233C>T (p.Asp411=)
|
rs931753951
|
0.00001
|
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln)
|
rs770055978
|
0.00001
|
NM_000355.4(TCN2):c.174A>G (p.Leu58=)
|
rs764601482
|
0.00001
|
NM_000355.4(TCN2):c.257+8C>T
|
rs747963904
|
0.00001
|
NM_000355.4(TCN2):c.270C>T (p.Ser90=)
|
rs775251694
|
0.00001
|
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn)
|
rs528704555
|
0.00001
|
NM_000355.4(TCN2):c.330C>T (p.Leu110=)
|
rs528481728
|
0.00001
|
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr)
|
rs762973293
|
0.00001
|
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr)
|
rs200483369
|
0.00001
|
NM_000355.4(TCN2):c.427+13C>T
|
rs753858269
|
0.00001
|
NM_000355.4(TCN2):c.427+15T>C
|
rs764862389
|
0.00001
|
NM_000355.4(TCN2):c.428-7C>T
|
rs778810764
|
0.00001
|
NM_000355.4(TCN2):c.428-8C>T
|
rs1412501560
|
0.00001
|
NM_000355.4(TCN2):c.430C>T (p.His144Tyr)
|
rs747296848
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.465C>T (p.Tyr155=)
|
rs1484880205
|
0.00001
|
NM_000355.4(TCN2):c.490C>T (p.Leu164=)
|
rs754253807
|
0.00001
|
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn)
|
rs773855163
|
0.00001
|
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr)
|
rs759922664
|
0.00001
|
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp)
|
rs777945731
|
0.00001
|
NM_000355.4(TCN2):c.567C>T (p.Gly189=)
|
rs143343408
|
0.00001
|
NM_000355.4(TCN2):c.612C>T (p.Thr204=)
|
rs1237569304
|
0.00001
|
NM_000355.4(TCN2):c.65-6T>A
|
rs1602043415
|
0.00001
|
NM_000355.4(TCN2):c.660C>G (p.Thr220=)
|
rs2087597240
|
0.00001
|
NM_000355.4(TCN2):c.708C>T (p.Pro236=)
|
rs762630641
|
0.00001
|
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg)
|
rs1273929738
|
0.00001
|
NM_000355.4(TCN2):c.735C>T (p.Ser245=)
|
rs755751120
|
0.00001
|
NM_000355.4(TCN2):c.753+19del
|
rs767328402
|
0.00001
|
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala)
|
rs752978666
|
0.00001
|
NM_000355.4(TCN2):c.87T>C (p.His29=)
|
rs1365708322
|
0.00001
|
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile)
|
rs763836785
|
0.00001
|
NM_000355.4(TCN2):c.915C>T (p.Ile305=)
|
rs911038185
|
0.00001
|
NM_000355.4(TCN2):c.918C>T (p.Phe306=)
|
rs567457027
|
0.00001
|
NM_000355.4(TCN2):c.924C>T (p.Asp308=)
|
rs1376577981
|
0.00001
|
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr)
|
rs2087605207
|
0.00001
|
NM_000355.4(TCN2):c.99G>A (p.Lys33=)
|
rs1485632884
|
0.00001
|
NM_001062.4(TCN1):c.1122-16T>G
|
rs767049262
|
0.00001
|
NM_001062.4(TCN1):c.1177T>C (p.Cys393Arg)
|
rs755140492
|
0.00001
|
NM_001062.4(TCN1):c.214A>T (p.Met72Leu)
|
rs372414904
|
0.00001
|
NM_001062.4(TCN1):c.26del (p.Leu9fs)
|
rs1209702636
|
0.00001
|
NM_001062.4(TCN1):c.492C>T (p.Ala164=)
|
rs773804679
|
0.00001
|
NM_001062.4(TCN1):c.623A>G (p.Lys208Arg)
|
rs762584996
|
0.00001
|
NM_001062.4(TCN1):c.706G>A (p.Gly236Ser)
|
rs1242630410
|
0.00001
|
NM_001062.4(TCN1):c.727A>C (p.Ser243Arg)
|
rs751144850
|
0.00001
|
NM_001062.4(TCN1):c.750C>G (p.Ala250=)
|
rs1217611864
|
0.00001
|
NM_001062.4(TCN1):c.951C>A (p.Ile317=)
|
rs549442049
|
0.00001
|
NM_001081.4(CUBN):c.*203C>T
|
rs769041830
|
0.00001
|
NM_001081.4(CUBN):c.*281A>G
|
rs886046858
|
0.00001
|
NM_001081.4(CUBN):c.*446A>G
|
rs1315458918
|
0.00001
|
NM_001081.4(CUBN):c.-42G>T
|
rs751905101
|
0.00001
|
NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)
|
rs561240556
|
0.00001
|
NM_001081.4(CUBN):c.10012C>A (p.Gln3338Lys)
|
rs755210947
|
0.00001
|
NM_001081.4(CUBN):c.10181-14A>G
|
rs886046864
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001081.4(CUBN):c.10238A>G (p.Asp3413Gly)
|
rs760807440
|
0.00001
|
NM_001081.4(CUBN):c.10277C>G (p.Thr3426Arg)
|
rs143066121
|
0.00001
|
NM_001081.4(CUBN):c.10287G>A (p.Gln3429=)
|
rs566428134
|
0.00001
|
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)
|
rs1183879233
|
0.00001
|
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=)
|
rs376007864
|
0.00001
|
NM_001081.4(CUBN):c.10678G>A (p.Asp3560Asn)
|
rs768846551
|
0.00001
|
NM_001081.4(CUBN):c.10795T>C (p.Ser3599Pro)
|
rs1177156381
|
0.00001
|
NM_001081.4(CUBN):c.1111+12T>A
|
rs772358097
|
0.00001
|
NM_001081.4(CUBN):c.1190A>G (p.Asn397Ser)
|
rs140397272
|
0.00001
|
NM_001081.4(CUBN):c.1272G>T (p.Trp424Cys)
|
rs563035840
|
0.00001
|
NM_001081.4(CUBN):c.1350C>T (p.Gly450=)
|
rs770827241
|
0.00001
|
NM_001081.4(CUBN):c.1418-9C>A
|
rs779016475
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1531-8A>G
|
rs776677485
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.164C>T (p.Thr55Met)
|
rs774556167
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.1978C>A (p.Leu660Ile)
|
rs1836092449
|
0.00001
|
NM_001081.4(CUBN):c.2005T>C (p.Ser669Pro)
|
rs751139014
|
0.00001
|
NM_001081.4(CUBN):c.2306G>A (p.Arg769Gln)
|
rs770625165
|
0.00001
|
NM_001081.4(CUBN):c.2311G>A (p.Gly771Ser)
|
rs866820343
|
0.00001
|
NM_001081.4(CUBN):c.2441A>G (p.Gln814Arg)
|
rs770392464
|
0.00001
|
NM_001081.4(CUBN):c.2446+18T>C
|
rs756171220
|
0.00001
|
NM_001081.4(CUBN):c.2536A>G (p.Ile846Val)
|
rs775423928
|
0.00001
|
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
|
rs755860454
|
0.00001
|
NM_001081.4(CUBN):c.2795G>A (p.Cys932Tyr)
|
rs572470830
|
0.00001
|
NM_001081.4(CUBN):c.2822G>A (p.Gly941Glu)
|
rs757185023
|
0.00001
|
NM_001081.4(CUBN):c.289G>A (p.Gly97Arg)
|
rs763105241
|
0.00001
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.3101G>C (p.Gly1034Ala)
|
rs778092585
|
0.00001
|
NM_001081.4(CUBN):c.3308A>G (p.Tyr1103Cys)
|
rs760682560
|
0.00001
|
NM_001081.4(CUBN):c.3371A>G (p.Tyr1124Cys)
|
rs763475348
|
0.00001
|
NM_001081.4(CUBN):c.3500G>T (p.Gly1167Val)
|
rs773892336
|
0.00001
|
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=)
|
rs1479997421
|
0.00001
|
NM_001081.4(CUBN):c.3896C>G (p.Pro1299Arg)
|
rs752570169
|
0.00001
|
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)
|
rs1037514591
|
0.00001
|
NM_001081.4(CUBN):c.3944G>A (p.Gly1315Asp)
|
rs773480436
|
0.00001
|
NM_001081.4(CUBN):c.3977A>C (p.Asp1326Ala)
|
rs774933317
|
0.00001
|
NM_001081.4(CUBN):c.4018-14C>A
|
rs376137878
|
0.00001
|
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)
|
rs386833787
|
0.00001
|
NM_001081.4(CUBN):c.4242C>T (p.Asn1414=)
|
rs138052938
|
0.00001
|
NM_001081.4(CUBN):c.4312G>T (p.Val1438Leu)
|
rs764937978
|
0.00001
|
NM_001081.4(CUBN):c.4696-18C>G
|
rs745926280
|
0.00001
|
NM_001081.4(CUBN):c.4837C>T (p.Arg1613Ter)
|
rs769881615
|
0.00001
|
NM_001081.4(CUBN):c.4856-1del
|
rs750520309
|
0.00001
|
NM_001081.4(CUBN):c.4906C>T (p.Arg1636Trp)
|
rs551594427
|
0.00001
|
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)
|
rs538984401
|
0.00001
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
0.00001
|
NM_001081.4(CUBN):c.5021C>T (p.Thr1674Met)
|
rs747701083
|
0.00001
|
NM_001081.4(CUBN):c.5076C>T (p.Leu1692=)
|
rs886046874
|
0.00001
|
NM_001081.4(CUBN):c.5083C>T (p.Arg1695Cys)
|
rs770776726
|
0.00001
|
NM_001081.4(CUBN):c.5131G>A (p.Ala1711Thr)
|
rs768182223
|
0.00001
|
NM_001081.4(CUBN):c.5416C>A (p.His1806Asn)
|
rs146438022
|
0.00001
|
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
|
rs754694753
|
0.00001
|
NM_001081.4(CUBN):c.5470G>A (p.Val1824Ile)
|
rs776108051
|
0.00001
|
NM_001081.4(CUBN):c.5548A>T (p.Ile1850Leu)
|
rs200277745
|
0.00001
|
NM_001081.4(CUBN):c.5556C>T (p.Gly1852=)
|
rs1459051392
|
0.00001
|
NM_001081.4(CUBN):c.5709A>G (p.Gln1903=)
|
rs1305422200
|
0.00001
|
NM_001081.4(CUBN):c.5716T>C (p.Tyr1906His)
|
rs186721969
|
0.00001
|
NM_001081.4(CUBN):c.5744G>C (p.Gly1915Ala)
|
rs1483369204
|
0.00001
|
NM_001081.4(CUBN):c.5757C>T (p.His1919=)
|
rs79184887
|
0.00001
|
NM_001081.4(CUBN):c.5851A>G (p.Ile1951Val)
|
rs1379361226
|
0.00001
|
NM_001081.4(CUBN):c.5982G>A (p.Pro1994=)
|
rs560009723
|
0.00001
|
NM_001081.4(CUBN):c.6048C>T (p.Thr2016=)
|
rs770723197
|
0.00001
|
NM_001081.4(CUBN):c.6211A>G (p.Ile2071Val)
|
rs567146793
|
0.00001
|
NM_001081.4(CUBN):c.6366C>A (p.Val2122=)
|
rs774532398
|
0.00001
|
NM_001081.4(CUBN):c.6728C>T (p.Pro2243Leu)
|
rs544059289
|
0.00001
|
NM_001081.4(CUBN):c.6729G>A (p.Pro2243=)
|
rs757609735
|
0.00001
|
NM_001081.4(CUBN):c.6821+20A>G
|
rs753314241
|
0.00001
|
NM_001081.4(CUBN):c.6821+3A>G
|
rs767078847
|
0.00001
|
NM_001081.4(CUBN):c.6847C>T (p.Arg2283Trp)
|
rs150117913
|
0.00001
|
NM_001081.4(CUBN):c.6991T>C (p.Tyr2331His)
|
rs767769110
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_001081.4(CUBN):c.704G>C (p.Arg235Pro)
|
rs752992672
|
0.00001
|
NM_001081.4(CUBN):c.7069T>C (p.Tyr2357His)
|
rs376122892
|
0.00001
|
NM_001081.4(CUBN):c.7070A>C (p.Tyr2357Ser)
|
rs886046870
|
0.00001
|
NM_001081.4(CUBN):c.7084T>A (p.Phe2362Ile)
|
rs757192279
|
0.00001
|
NM_001081.4(CUBN):c.720+12C>A
|
rs888514621
|
0.00001
|
NM_001081.4(CUBN):c.7331G>A (p.Arg2444Gln)
|
rs11254274
|
0.00001
|
NM_001081.4(CUBN):c.7363G>T (p.Asp2455Tyr)
|
rs761577575
|
0.00001
|
NM_001081.4(CUBN):c.7378A>G (p.Ile2460Val)
|
rs565917798
|
0.00001
|
NM_001081.4(CUBN):c.7390A>C (p.Thr2464Pro)
|
rs769747844
|
0.00001
|
NM_001081.4(CUBN):c.7533A>C (p.Ile2511=)
|
rs748416223
|
0.00001
|
NM_001081.4(CUBN):c.7568T>C (p.Leu2523Pro)
|
rs145347743
|
0.00001
|
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=)
|
rs1199891308
|
0.00001
|
NM_001081.4(CUBN):c.7625C>A (p.Thr2542Lys)
|
rs1841590875
|
0.00001
|
NM_001081.4(CUBN):c.7802G>A (p.Trp2601Ter)
|
rs1841554531
|
0.00001
|
NM_001081.4(CUBN):c.795C>T (p.Asp265=)
|
rs777864127
|
0.00001
|
NM_001081.4(CUBN):c.8095G>A (p.Val2699Met)
|
rs535261179
|
0.00001
|
NM_001081.4(CUBN):c.8222C>A (p.Thr2741Asn)
|
rs771697506
|
0.00001
|
NM_001081.4(CUBN):c.83T>C (p.Leu28Pro)
|
rs1054077052
|
0.00001
|
NM_001081.4(CUBN):c.8463G>A (p.Trp2821Ter)
|
rs759203841
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8565C>T (p.Ser2855=)
|
rs201227730
|
0.00001
|
NM_001081.4(CUBN):c.8566G>A (p.Gly2856Ser)
|
rs371139445
|
0.00001
|
NM_001081.4(CUBN):c.8656G>A (p.Val2886Met)
|
rs200235278
|
0.00001
|
NM_001081.4(CUBN):c.8720C>A (p.Ala2907Glu)
|
rs758557930
|
0.00001
|
NM_001081.4(CUBN):c.8739C>T (p.Ser2913=)
|
rs140586269
|
0.00001
|
NM_001081.4(CUBN):c.8749G>A (p.Val2917Ile)
|
rs142248018
|
0.00001
|
NM_001081.4(CUBN):c.8881A>T (p.Thr2961Ser)
|
rs774440223
|
0.00001
|
NM_001081.4(CUBN):c.8908C>T (p.Arg2970Cys)
|
rs562374248
|
0.00001
|
NM_001081.4(CUBN):c.8943C>T (p.Gly2981=)
|
rs767131065
|
0.00001
|
NM_001081.4(CUBN):c.9037G>T (p.Val3013Phe)
|
rs1241849194
|
0.00001
|
NM_001081.4(CUBN):c.9060C>T (p.Asn3020=)
|
rs377526677
|
0.00001
|
NM_001081.4(CUBN):c.9208G>A (p.Val3070Ile)
|
rs144314567
|
0.00001
|
NM_001081.4(CUBN):c.9228C>T (p.Ile3076=)
|
rs976401499
|
0.00001
|
NM_001081.4(CUBN):c.9237-10C>T
|
rs768128551
|
0.00001
|
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
NM_001081.4(CUBN):c.9433A>G (p.Met3145Val)
|
rs367575656
|
0.00001
|
NM_001081.4(CUBN):c.9527A>G (p.Asn3176Ser)
|
rs750045664
|
0.00001
|
NM_001081.4(CUBN):c.9618G>A (p.Leu3206=)
|
rs559567467
|
0.00001
|
NM_001081.4(CUBN):c.9816C>T (p.Thr3272=)
|
rs750580951
|
0.00001
|
NM_001081.4(CUBN):c.9841A>T (p.Thr3281Ser)
|
rs570241713
|
0.00001
|
NM_001287444.2(DCDC2C):c.955-1G>C
|
rs1167362443
|
0.00001
|
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
|
rs140944718
|
0.00001
|
NM_002454.3(MTRR):c.1041A>G (p.Ala347=)
|
rs1331838959
|
0.00001
|
NM_002454.3(MTRR):c.1057+7G>T
|
rs767794040
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1131A>C (p.Arg377=)
|
rs1050662553
|
0.00001
|
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)
|
rs746404785
|
0.00001
|
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser)
|
rs1243456483
|
0.00001
|
NM_002454.3(MTRR):c.1147-6T>C
|
rs781413511
|
0.00001
|
NM_002454.3(MTRR):c.1147-8T>C
|
rs961118885
|
0.00001
|
NM_002454.3(MTRR):c.1149A>G (p.Ala383=)
|
rs748418818
|
0.00001
|
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter)
|
rs1421007019
|
0.00001
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
NM_002454.3(MTRR):c.1227G>A (p.Gly409=)
|
rs1250182164
|
0.00001
|
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=)
|
rs755507944
|
0.00001
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)
|
rs749461781
|
0.00001
|
NM_002454.3(MTRR):c.1257T>C (p.Asp419=)
|
rs1292824472
|
0.00001
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu)
|
rs937595017
|
0.00001
|
NM_002454.3(MTRR):c.130-12C>G
|
rs764724859
|
0.00001
|
NM_002454.3(MTRR):c.1311A>G (p.Pro437=)
|
rs755561250
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.1371-10A>G
|
rs368498814
|
0.00001
|
NM_002454.3(MTRR):c.13C>T (p.Leu5=)
|
rs763313419
|
0.00001
|
NM_002454.3(MTRR):c.1443A>G (p.Thr481=)
|
rs1359474445
|
0.00001
|
NM_002454.3(MTRR):c.1527T>C (p.His509=)
|
rs1483514424
|
0.00001
|
NM_002454.3(MTRR):c.1533C>T (p.Asp511=)
|
rs1269324233
|
0.00001
|
NM_002454.3(MTRR):c.1546C>T (p.Leu516=)
|
rs1268958481
|
0.00001
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln)
|
rs1343250131
|
0.00001
|
NM_002454.3(MTRR):c.1593C>T (p.His531=)
|
rs778082216
|
0.00001
|
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser)
|
rs771421325
|
0.00001
|
NM_002454.3(MTRR):c.1602T>C (p.Asp534=)
|
rs1738404887
|
0.00001
|
NM_002454.3(MTRR):c.1666C>T (p.Leu556=)
|
rs762466500
|
0.00001
|
NM_002454.3(MTRR):c.1676+10T>C
|
rs757713803
|
0.00001
|
NM_002454.3(MTRR):c.1677-6A>G
|
rs780299669
|
0.00001
|
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)
|
rs771123203
|
0.00001
|
NM_002454.3(MTRR):c.1764A>G (p.Leu588=)
|
rs766927577
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
NM_002454.3(MTRR):c.1791T>C (p.Leu597=)
|
rs767659059
|
0.00001
|
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)
|
rs1318949494
|
0.00001
|
NM_002454.3(MTRR):c.1857A>G (p.Glu619=)
|
rs1416687292
|
0.00001
|
NM_002454.3(MTRR):c.1869G>A (p.Lys623=)
|
rs768364684
|
0.00001
|
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser)
|
rs144020429
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.1917C>A (p.Ile639=)
|
rs778699591
|
0.00001
|
NM_002454.3(MTRR):c.1952+14G>A
|
rs557018438
|
0.00001
|
NM_002454.3(MTRR):c.1992T>C (p.Leu664=)
|
rs375588388
|
0.00001
|
NM_002454.3(MTRR):c.2031A>G (p.Leu677=)
|
rs367590648
|
0.00001
|
NM_002454.3(MTRR):c.2052C>T (p.Ala684=)
|
rs1427160228
|
0.00001
|
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=)
|
rs984089159
|
0.00001
|
NM_002454.3(MTRR):c.230del (p.Gln77fs)
|
rs1408257020
|
0.00001
|
NM_002454.3(MTRR):c.303C>T (p.Tyr101=)
|
rs1748681766
|
0.00001
|
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly)
|
rs1484416611
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002454.3(MTRR):c.378T>C (p.Thr126=)
|
rs577851734
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002454.3(MTRR):c.39A>G (p.Gly13=)
|
rs752509731
|
0.00001
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
NM_002454.3(MTRR):c.401+1G>A
|
rs1400065323
|
0.00001
|
NM_002454.3(MTRR):c.401+9A>G
|
rs376866907
|
0.00001
|
NM_002454.3(MTRR):c.423G>A (p.Pro141=)
|
rs753947379
|
0.00001
|
NM_002454.3(MTRR):c.432T>G (p.Ala144=)
|
rs116439533
|
0.00001
|
NM_002454.3(MTRR):c.477A>G (p.Gly159=)
|
rs1270504511
|
0.00001
|
NM_002454.3(MTRR):c.487A>G (p.Ile163Val)
|
rs886060804
|
0.00001
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
NM_002454.3(MTRR):c.504G>A (p.Pro168=)
|
rs746183496
|
0.00001
|
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr)
|
rs1182297284
|
0.00001
|
NM_002454.3(MTRR):c.52A>G (p.Ile18Val)
|
rs753325140
|
0.00001
|
NM_002454.3(MTRR):c.588C>T (p.Phe196=)
|
rs776897289
|
0.00001
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
NM_002454.3(MTRR):c.594T>C (p.Asp198=)
|
rs773514527
|
0.00001
|
NM_002454.3(MTRR):c.612T>C (p.Ser204=)
|
rs374670570
|
0.00001
|
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe)
|
rs1238722351
|
0.00001
|
NM_002454.3(MTRR):c.708A>G (p.Ser236=)
|
rs372700667
|
0.00001
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
NM_002454.3(MTRR):c.744A>G (p.Glu248=)
|
rs749341418
|
0.00001
|
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter)
|
rs1353165398
|
0.00001
|
NM_002454.3(MTRR):c.780+20T>C
|
rs563392085
|
0.00001
|
NM_002454.3(MTRR):c.807A>G (p.Ser269=)
|
rs1348478237
|
0.00001
|
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)
|
rs1377146830
|
0.00001
|
NM_002454.3(MTRR):c.84A>G (p.Val28=)
|
rs1045121482
|
0.00001
|
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly)
|
rs766083570
|
0.00001
|
NM_002454.3(MTRR):c.903+19T>A
|
rs930028739
|
0.00001
|
NM_002454.3(MTRR):c.904-10del
|
rs1467919139
|
0.00001
|
NM_002454.3(MTRR):c.936C>T (p.Ala312=)
|
rs777075473
|
0.00001
|
NM_002454.3(MTRR):c.942C>T (p.Ser314=)
|
rs770336060
|
0.00001
|
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)
|
rs1446995315
|
0.00001
|
NM_005050.4(ABCD4):c.1028+17C>T
|
rs1290816055
|
0.00001
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)
|
rs546298874
|
0.00001
|
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
|
rs754280972
|
0.00001
|
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
|
rs201586690
|
0.00001
|
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)
|
rs759539743
|
0.00001
|
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=)
|
rs760206135
|
0.00001
|
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=)
|
rs780349078
|
0.00001
|
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)
|
rs1360319567
|
0.00001
|
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=)
|
rs747273884
|
0.00001
|
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)
|
rs555792734
|
0.00001
|
NM_005050.4(ABCD4):c.158-7C>A
|
rs557930358
|
0.00001
|
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)
|
rs780846855
|
0.00001
|
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)
|
rs2083804334
|
0.00001
|
NM_005050.4(ABCD4):c.1752+2T>C
|
rs151116417
|
0.00001
|
NM_005050.4(ABCD4):c.1753-18G>A
|
rs772567988
|
0.00001
|
NM_005050.4(ABCD4):c.1753-4G>A
|
rs554458015
|
0.00001
|
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)
|
rs773609274
|
0.00001
|
NM_005050.4(ABCD4):c.285+19T>C
|
rs369159114
|
0.00001
|
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)
|
rs371774856
|
0.00001
|
NM_005050.4(ABCD4):c.360C>T (p.His120=)
|
rs1050702853
|
0.00001
|
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)
|
rs1349388678
|
0.00001
|
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)
|
rs776529140
|
0.00001
|
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)
|
rs373322009
|
0.00001
|
NM_005050.4(ABCD4):c.542+1G>T
|
rs769364566
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005050.4(ABCD4):c.594C>T (p.Thr198=)
|
rs202070697
|
0.00001
|
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)
|
rs1280841182
|
0.00001
|
NM_005050.4(ABCD4):c.669-7C>T
|
rs371152472
|
0.00001
|
NM_005050.4(ABCD4):c.6G>A (p.Ala2=)
|
rs1486429349
|
0.00001
|
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)
|
rs761053363
|
0.00001
|
NM_005050.4(ABCD4):c.9C>G (p.Val3=)
|
rs72542410
|
0.00001
|
NM_005142.3(CBLIF):c.*56T>G
|
rs886048401
|
0.00001
|
NM_005142.3(CBLIF):c.1180C>T (p.Pro394Ser)
|
rs766270119
|
0.00001
|
NM_005142.3(CBLIF):c.1211C>G (p.Pro404Arg)
|
rs1460997213
|
0.00001
|
NM_005142.3(CBLIF):c.192C>T (p.Ala64=)
|
rs1011636376
|
0.00001
|
NM_005142.3(CBLIF):c.239T>C (p.Met80Thr)
|
rs376339959
|
0.00001
|
NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)
|
rs200856492
|
0.00001
|
NM_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
|
rs782558280
|
0.00001
|
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
|
rs782774910
|
0.00001
|
NM_005334.3(HCFC1):c.2690C>T (p.Ala897Val)
|
rs781971515
|
0.00001
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
|
rs375223452
|
0.00001
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
|
rs782473277
|
0.00001
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
|
rs371594842
|
0.00001
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)
|
rs372262322
|
0.00001
|
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)
|
rs780981680
|
0.00001
|
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
|
rs371927733
|
0.00001
|
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
|
rs535215325
|
0.00001
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)
|
rs758477536
|
0.00001
|
NM_015506.3(MMACHC):c.213C>T (p.His71=)
|
rs746112343
|
0.00001
|
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)
|
rs796051995
|
0.00001
|
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)
|
rs772225967
|
0.00001
|
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)
|
rs1217366809
|
0.00001
|
NM_015506.3(MMACHC):c.258T>C (p.His86=)
|
rs1005452717
|
0.00001
|
NM_015506.3(MMACHC):c.276+10G>A
|
rs1229858789
|
0.00001
|
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
|
rs751229877
|
0.00001
|
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)
|
rs759188647
|
0.00001
|
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)
|
rs187869948
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)
|
rs1010232462
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)
|
rs746135357
|
0.00001
|
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)
|
rs779893448
|
0.00001
|
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)
|
rs886046368
|
0.00001
|
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
|
rs374086070
|
0.00001
|
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
|
rs563710045
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
|
rs1035201847
|
0.00001
|
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)
|
rs759921519
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)
|
rs1553162901
|
0.00001
|
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)
|
rs1161394470
|
0.00001
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
|
rs1366120426
|
0.00001
|
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)
|
rs1298700969
|
0.00001
|
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
|
rs780926592
|
0.00001
|
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)
|
rs1463495909
|
0.00001
|
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
|
rs769162698
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)
|
rs774357624
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
|
rs750002717
|
0.00001
|
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
|
rs755881820
|
0.00001
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
|
rs376037114
|
0.00001
|
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)
|
rs1458150108
|
0.00001
|
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
|
rs941778714
|
0.00001
|
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)
|
rs546099787
|
0.00001
|
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
|
rs1288893138
|
0.00001
|
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)
|
rs769732556
|
0.00001
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
|
rs1448387303
|
0.00001
|
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)
|
rs775175927
|
0.00001
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)
|
rs763521620
|
0.00001
|
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)
|
rs760590651
|
0.00001
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
NM_015702.3(MMADHC):c.372+7T>C
|
rs368516017
|
0.00001
|
NM_015702.3(MMADHC):c.373-16T>C
|
rs754844727
|
0.00001
|
NM_015702.3(MMADHC):c.373-8C>A
|
rs766361763
|
0.00001
|
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
|
rs1345924349
|
0.00001
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
|
rs1478523517
|
0.00001
|
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)
|
rs780889876
|
0.00001
|
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
|
rs778778537
|
0.00001
|
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
|
rs1282238457
|
0.00001
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
|
rs1485998377
|
0.00001
|
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)
|
rs1427942673
|
0.00001
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)
|
rs376860199
|
0.00001
|
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)
|
rs766017009
|
0.00001
|
NM_015702.3(MMADHC):c.828A>G (p.Val276=)
|
rs937318527
|
0.00001
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
NM_015702.3(MMADHC):c.9+12A>C
|
rs570608507
|
0.00001
|
NM_016579.4(CD320):c.143-9A>G
|
rs779568253
|
0.00001
|
NM_016579.4(CD320):c.202G>A (p.Val68Met)
|
rs748020753
|
0.00001
|
NM_016579.4(CD320):c.210C>T (p.Leu70=)
|
rs780676013
|
0.00001
|
NM_016579.4(CD320):c.212C>G (p.Thr71Ser)
|
rs560650557
|
0.00001
|
NM_016579.4(CD320):c.306G>A (p.Pro102=)
|
rs755073624
|
0.00001
|
NM_016579.4(CD320):c.32C>A (p.Ala11Glu)
|
rs567898376
|
0.00001
|
NM_016579.4(CD320):c.334G>A (p.Gly112Ser)
|
rs948576208
|
0.00001
|
NM_016579.4(CD320):c.404G>T (p.Gly135Val)
|
rs751841592
|
0.00001
|
NM_016579.4(CD320):c.459C>T (p.Asp153=)
|
rs750510195
|
0.00001
|
NM_016579.4(CD320):c.7G>A (p.Gly3Ser)
|
rs778033415
|
0.00001
|
NM_018368.4(LMBRD1):c.1017T>C (p.Ser339=)
|
rs558926049
|
0.00001
|
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
|
rs1380343985
|
0.00001
|
NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln)
|
rs772350306
|
0.00001
|
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp)
|
rs748879055
|
0.00001
|
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln)
|
rs886061692
|
0.00001
|
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
|
rs561265847
|
0.00001
|
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
|
rs1364347331
|
0.00001
|
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met)
|
rs771561971
|
0.00001
|
NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys)
|
rs781535724
|
0.00001
|
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)
|
rs1382933312
|
0.00001
|
NM_018368.4(LMBRD1):c.1417+9A>G
|
rs763882735
|
0.00001
|
NM_018368.4(LMBRD1):c.1418-20T>A
|
rs758519179
|
0.00001
|
NM_018368.4(LMBRD1):c.1510-19G>A
|
rs1484305691
|
0.00001
|
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)
|
rs771408766
|
0.00001
|
NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys)
|
rs982934588
|
0.00001
|
NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val)
|
rs765308443
|
0.00001
|
NM_018368.4(LMBRD1):c.247-4C>T
|
rs1321930777
|
0.00001
|
NM_018368.4(LMBRD1):c.291A>G (p.Val97=)
|
rs752864942
|
0.00001
|
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
|
rs201773048
|
0.00001
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
0.00001
|
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
|
rs1562105981
|
0.00001
|
NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro)
|
rs1766557026
|
0.00001
|
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
|
rs1297619412
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
0.00001
|
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
|
rs752377027
|
0.00001
|
NM_030943.4(AMN):c.1064G>A (p.Gly355Asp)
|
rs1034430613
|
0.00001
|
NM_030943.4(AMN):c.108G>C (p.Trp36Cys)
|
rs199835580
|
0.00001
|
NM_030943.4(AMN):c.1200T>C (p.Ala400=)
|
rs1410658337
|
0.00001
|
NM_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
NM_030943.4(AMN):c.207+9G>A
|
rs765056352
|
0.00001
|
NM_030943.4(AMN):c.296-10T>C
|
rs1229295738
|
0.00001
|
NM_030943.4(AMN):c.296-3C>T
|
rs764763091
|
0.00001
|
NM_030943.4(AMN):c.356G>T (p.Arg119Leu)
|
rs533436439
|
0.00001
|
NM_030943.4(AMN):c.492C>G (p.Arg164=)
|
rs1388154450
|
0.00001
|
NM_030943.4(AMN):c.760+10C>T
|
rs1312771036
|
0.00001
|
NM_030943.4(AMN):c.790G>A (p.Ala264Thr)
|
rs1450455717
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_030943.4(AMN):c.969G>A (p.Arg323=)
|
rs899760936
|
0.00001
|
NM_052845.3(MMAB):c.-69G>A
|
rs886048928
|
0.00001
|
NM_052845.4(MMAB):c.*2913C>T
|
rs901387869
|
0.00001
|
NM_052845.4(MMAB):c.*716C>T
|
rs886048921
|
0.00001
|
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
|
rs1466525448
|
0.00001
|
NM_052845.4(MMAB):c.135-4T>C
|
rs1025409144
|
0.00001
|
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
|
rs759809454
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
|
rs571555515
|
0.00001
|
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
|
rs770743560
|
0.00001
|
NM_052845.4(MMAB):c.255C>T (p.Ala85=)
|
rs894225131
|
0.00001
|
NM_052845.4(MMAB):c.348+10_348+13del
|
rs775340018
|
0.00001
|
NM_052845.4(MMAB):c.348+7A>G
|
rs769138883
|
0.00001
|
NM_052845.4(MMAB):c.348+9C>T
|
rs747459155
|
0.00001
|
NM_052845.4(MMAB):c.349-10C>T
|
rs896742047
|
0.00001
|
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
|
rs1393235772
|
0.00001
|
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
|
rs1055749855
|
0.00001
|
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)
|
rs771053425
|
0.00001
|
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
|
rs778169806
|
0.00001
|
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)
|
rs749936057
|
0.00001
|
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
|
rs755568905
|
0.00001
|
NM_052845.4(MMAB):c.422-6C>T
|
rs759110803
|
0.00001
|
NM_052845.4(MMAB):c.423G>A (p.Lys141=)
|
rs1474862262
|
0.00001
|
NM_052845.4(MMAB):c.424T>C (p.Tyr142His)
|
rs886198506
|
0.00001
|
NM_052845.4(MMAB):c.432G>C (p.Thr144=)
|
rs200127370
|
0.00001
|
NM_052845.4(MMAB):c.451C>T (p.Leu151=)
|
rs1884202824
|
0.00001
|
NM_052845.4(MMAB):c.456G>A (p.Glu152=)
|
rs1884202411
|
0.00001
|
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
|
rs767045171
|
0.00001
|
NM_052845.4(MMAB):c.465G>A (p.Gln155=)
|
rs1323701026
|
0.00001
|
NM_052845.4(MMAB):c.516G>T (p.Leu172=)
|
rs914000089
|
0.00001
|
NM_052845.4(MMAB):c.522G>A (p.Ser174=)
|
rs545625368
|
0.00001
|
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter)
|
rs758790126
|
0.00001
|
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
|
rs138069953
|
0.00001
|
NM_052845.4(MMAB):c.540G>A (p.Ser180=)
|
rs754311573
|
0.00001
|
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
|
rs145411521
|
0.00001
|
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)
|
rs749758687
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_052845.4(MMAB):c.615C>T (p.Thr205=)
|
rs760629956
|
0.00001
|
NM_052845.4(MMAB):c.61T>A (p.Cys21Ser)
|
rs763383858
|
0.00001
|
NM_052845.4(MMAB):c.625G>A (p.Val209Met)
|
rs200903284
|
0.00001
|
NM_052845.4(MMAB):c.644+6C>T
|
rs376868629
|
0.00001
|
NM_052845.4(MMAB):c.645-8C>G
|
rs1251570137
|
0.00001
|
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
|
rs940651669
|
0.00001
|
NM_052845.4(MMAB):c.99G>A (p.Gln33=)
|
rs749127574
|
0.00001
|
NM_172250.3(MMAA):c.*1779T>C
|
rs886059097
|
0.00001
|
NM_172250.3(MMAA):c.*1819C>G
|
rs983321169
|
0.00001
|
NM_172250.3(MMAA):c.*229T>C
|
rs886059092
|
0.00001
|
NM_172250.3(MMAA):c.*2378A>G
|
rs886059104
|
0.00001
|
NM_172250.3(MMAA):c.*2444C>G
|
rs934446234
|
0.00001
|
NM_172250.3(MMAA):c.*2479G>A
|
rs886059107
|
0.00001
|
NM_172250.3(MMAA):c.*2627A>G
|
rs886059109
|
0.00001
|
NM_172250.3(MMAA):c.*353C>A
|
rs1302018790
|
0.00001
|
NM_172250.3(MMAA):c.*4504C>A
|
rs1009787082
|
0.00001
|
NM_172250.3(MMAA):c.*540A>T
|
rs886059094
|
0.00001
|
NM_172250.3(MMAA):c.*67G>A
|
rs886059090
|
0.00001
|
NM_172250.3(MMAA):c.1055G>A (p.Ser352Asn)
|
rs756437003
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)
|
rs1560802980
|
0.00001
|
NM_172250.3(MMAA):c.1099A>G (p.Met367Val)
|
rs754474832
|
0.00001
|
NM_172250.3(MMAA):c.1137C>T (p.Phe379=)
|
rs1010401774
|
0.00001
|
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
|
rs191643294
|
0.00001
|
NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)
|
rs758345818
|
0.00001
|
NM_172250.3(MMAA):c.129G>A (p.Pro43=)
|
rs779779664
|
0.00001
|
NM_172250.3(MMAA):c.159G>A (p.Lys53=)
|
rs1191388669
|
0.00001
|
NM_172250.3(MMAA):c.15A>G (p.Leu5=)
|
rs755914586
|
0.00001
|
NM_172250.3(MMAA):c.177T>C (p.Asp59=)
|
rs1727713075
|
0.00001
|
NM_172250.3(MMAA):c.258G>A (p.Val86=)
|
rs1240108337
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)
|
rs1328584680
|
0.00001
|
NM_172250.3(MMAA):c.313A>G (p.Ile105Val)
|
rs1284134117
|
0.00001
|
NM_172250.3(MMAA):c.336C>T (p.His112=)
|
rs771388415
|
0.00001
|
NM_172250.3(MMAA):c.33T>C (p.His11=)
|
rs370983676
|
0.00001
|
NM_172250.3(MMAA):c.365T>C (p.Leu122Pro)
|
rs760875006
|
0.00001
|
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
|
rs965827040
|
0.00001
|
NM_172250.3(MMAA):c.400G>C (p.Glu134Gln)
|
rs369113922
|
0.00001
|
NM_172250.3(MMAA):c.434G>A (p.Arg145Gln)
|
rs200577967
|
0.00001
|
NM_172250.3(MMAA):c.440-5C>T
|
rs759611574
|
0.00001
|
NM_172250.3(MMAA):c.488T>C (p.Phe163Ser)
|
rs753463116
|
0.00001
|
NM_172250.3(MMAA):c.563-9A>G
|
rs1361037765
|
0.00001
|
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)
|
rs1029096863
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.651dup (p.Gly218fs)
|
rs1314623572
|
0.00001
|
NM_172250.3(MMAA):c.676G>A (p.Glu226Lys)
|
rs1036460255
|
0.00001
|
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
|
rs889048711
|
0.00001
|
NM_172250.3(MMAA):c.702G>A (p.Ala234=)
|
rs781525637
|
0.00001
|
NM_172250.3(MMAA):c.721A>G (p.Ile241Val)
|
rs756221585
|
0.00001
|
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
|
rs371068331
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.734-7A>G
|
rs753938949
|
0.00001
|
NM_172250.3(MMAA):c.734-8A>G
|
rs778057240
|
0.00001
|
NM_172250.3(MMAA):c.742C>T (p.Gln248Ter)
|
rs757548934
|
0.00001
|
NM_172250.3(MMAA):c.756T>C (p.Ala252=)
|
rs781124654
|
0.00001
|
NM_172250.3(MMAA):c.756del (p.Val253fs)
|
rs1489525542
|
0.00001
|
NM_172250.3(MMAA):c.760G>A (p.Ala254Thr)
|
rs769722136
|
0.00001
|
NM_172250.3(MMAA):c.763G>C (p.Asp255His)
|
rs1267434098
|
0.00001
|
NM_172250.3(MMAA):c.795A>C (p.Pro265=)
|
rs767934772
|
0.00001
|
NM_172250.3(MMAA):c.819+10T>A
|
rs1202834297
|
0.00001
|
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
|
rs1204400776
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_172250.3(MMAA):c.840C>T (p.Ile280=)
|
rs750509072
|
0.00001
|
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
|
rs367809749
|
0.00001
|
NM_172250.3(MMAA):c.891G>A (p.Val297=)
|
rs1315370286
|
0.00001
|
NM_172250.3(MMAA):c.927A>G (p.Ala309=)
|
rs769082931
|
0.00001
|
NM_172250.3(MMAA):c.970-7T>C
|
rs770942394
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
GRCh37/hg19 1p34.1(chr1:45965972-45979054)
|
|
|
MTR, IVS6AS, G-A, LYS203
|
|
|
MTRR, 4-BP DEL, NT1675
|
|
|
NC_000001.10:g.(?_236959004)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_237054413)_(237057877_?)del
|
|
|
NC_000001.10:g.(?_237060286)_(237060944_?)dup
|
|
|
NC_000001.10:g.(?_45965995)_(45966095_?)del
|
|
|
NC_000001.10:g.(?_45966005)_(45977106_?)dup
|
|
|
NC_000001.10:g.(?_45973008)_(45977106_?)del
|
|
|
NC_000001.10:g.(?_45974458)_(45974897_?)del
|
|
|
NC_000001.11:g.(?_236795684)_(236897664_?)del
|
|
|
NC_000001.11:g.(?_45500323)_(45509225_?)del
|
|
|
NC_000001.11:g.(?_45507336)_(45509235_?)dup
|
|
|
NC_000002.11:g.(?_150426488)_(150426702_?)del
|
|
|
NC_000002.11:g.(?_150426488)_(150443611_?)del
|
|
|
NC_000002.11:g.(?_150438631)_(150438795_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443611_?)del
|
|
|
NC_000002.11:g.(?_150443583)_(150443631_?)del
|
|
|
NC_000002.12:g.(?_149569954)_(149587117_?)del
|
|
|
NC_000002.12:g.(?_149569964)_(149587107_?)del
|
|
|
NC_000004.11:g.(?_146560292)_(149358012_?)del
|
|
|
NC_000004.11:g.(?_146575136)_(146576596_?)del
|
|
|
NC_000004.12:g.(?_145639120)_(145642505_?)del
|
|
|
NC_000005.10:g.(?_7869114)_(7900078_?)del
|
|
|
NC_000005.10:g.(?_7877934)_(7878332_?)del
|
|
|
NC_000005.10:g.(?_7883145)_(7892923_?)del
|
|
|
NC_000005.9:g.(?_7870908)_(7871056_?)del
|
|
|
NC_000005.9:g.(?_7870908)_(7900171_?)del
|
|
|
NC_000005.9:g.(?_7870908)_(7900171_?)dup
|
|
|
NC_000005.9:g.(?_7875361)_(7875498_?)del
|
|
|
NC_000005.9:g.(?_7885880)_(7887275_?)del
|
|
|
NC_000005.9:g.(?_7889198)_(7897370_?)del
|
|
|
NC_000005.9:g.(?_7891465)_(7891547_?)del
|
|
|
NC_000005.9:g.(?_7892820)_(7893046_?)del
|
|
|
NC_000005.9:g.(?_7895827)_(7900171_?)dup
|
|
|
NC_000006.11:g.(?_70386050)_(70490466_?)dup
|
|
|
NC_000006.11:g.(?_70386050)_(71012627_?)del
|
|
|
NC_000006.11:g.(?_70459213)_(70462268_?)del
|
|
|
NC_000006.11:g.(?_70490366)_(70506773_?)dup
|
|
|
NC_000006.12:g.69780555del
|
|
|
NC_000010.10:g.(?_16866974)_(16867101_?)del
|
|
|
NC_000010.10:g.(?_16866974)_(18828653_?)dup
|
|
|
NC_000010.10:g.(?_16961942)_(16970322_?)del
|
|
|
NC_000010.10:g.(?_17151619)_(17157616_?)del
|
|
|
NC_000011.9:g.(?_59603261)_(59604844_?)dup
|
|
|
NC_000011.9:g.(?_59628980)_(59629175_?)dup
|
|
|
NC_000012.11:g.(?_109991510)_(109994951_?)del
|
|
|
NC_000012.11:g.(?_110002904)_(110003001_?)del
|
|
|
NC_000012.11:g.(?_110009434)_(110009535_?)dup
|
|
|
NC_000012.11:g.(?_110009444)_(110012715_?)del
|
|
|
NC_000012.11:g.(?_110011228)_(110017709_?)del
|
|
|
NC_000012.12:g.(?_109561020)_(109565196_?)del
|
|
|
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
|
|
|
NC_000014.8:g.(?_103389228)_(103394842_?)del
|
|
|
NC_000014.8:g.(?_74766231)_(74769615_?)del
|
|
|
NC_000014.9:g.(?_102870182)_(102930700_?)del
|
|
|
NC_000019.10:g.(?_8302443)_(8308310_?)dup
|
|
|
NC_000019.9:g.(?_8367347)_(8370060_?)dup
|
|
|
NC_000022.10:g.(?_31003319)_(31003402_?)del
|
|
|
NC_000022.10:g.(?_31003319)_(31022508_?)del
|
|
|
NC_000022.10:g.(?_31003319)_(31022508_?)dup
|
|
|
NC_000022.10:g.(?_31008840)_(31013502_?)del
|
|
|
NC_000022.10:g.(?_31008840)_(31019090_?)del
|
|
|
NC_000022.10:g.(?_31010316)_(31013502_?)del
|
|
|
NC_000022.10:g.(?_31018935)_(31019090_?)del
|
|
|
NC_000022.11:g.(?_30612853)_(30615807_?)del
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000254.3(MTR):c.1011T>A (p.Ala337=)
|
|
|
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys)
|
rs1322031909
|
|
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala)
|
|
|
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
|
|
|
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu)
|
|
|
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
|
|
|
NM_000254.3(MTR):c.1075+12A>C
|
|
|
NM_000254.3(MTR):c.1075+14A>T
|
|
|
NM_000254.3(MTR):c.1076-11C>G
|
rs186367553
|
|
NM_000254.3(MTR):c.1076-19A>T
|
|
|
NM_000254.3(MTR):c.1076-20A>T
|
|
|
NM_000254.3(MTR):c.1076-9C>T
|
|
|
NM_000254.3(MTR):c.1077T>G (p.Gly359=)
|
rs745469748
|
|
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
|
|
|
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
|
|
|
NM_000254.3(MTR):c.1101G>A (p.Pro367=)
|
rs763018049
|
|
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp)
|
rs1662641467
|
|
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
|
|
|
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr)
|
|
|
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1188+19C>T
|
|
|
NM_000254.3(MTR):c.1188+1G>A
|
rs2103130072
|
|
NM_000254.3(MTR):c.1188+7A>G
|
|
|
NM_000254.3(MTR):c.1189-11T>C
|
rs2103148397
|
|
NM_000254.3(MTR):c.1189-14C>G
|
|
|
NM_000254.3(MTR):c.1189-18C>T
|
|
|
NM_000254.3(MTR):c.1189-20C>T
|
|
|
NM_000254.3(MTR):c.1189-7C>T
|
|
|
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
|
|
|
NM_000254.3(MTR):c.1200dup (p.Val401fs)
|
|
|
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
|
|
|
NM_000254.3(MTR):c.1231C>T (p.Gln411Ter)
|
|
|
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
|
|
|
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser)
|
|
|
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
|
|
|
NM_000254.3(MTR):c.1251G>T (p.Met417Ile)
|
rs2103148829
|
|
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
|
|
|
NM_000254.3(MTR):c.1266A>G (p.Leu422=)
|
rs984927112
|
|
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
|
|
|
NM_000254.3(MTR):c.126G>A (p.Gln42=)
|
|
|
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp)
|
rs2103149012
|
|
NM_000254.3(MTR):c.128G>A (p.Arg43Gln)
|
rs143088011
|
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
NM_000254.3(MTR):c.12_13del (p.Leu5fs)
|
|
|
NM_000254.3(MTR):c.1305T>C (p.Ile435=)
|
|
|
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
|
|
|
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
|
|
|
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
|
|
|
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)
|
rs770004849
|
|
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
|
|
|
NM_000254.3(MTR):c.1329+14T>C
|
|
|
NM_000254.3(MTR):c.1329+15_1329+16del
|
|
|
NM_000254.3(MTR):c.1329+16T>C
|
|
|
NM_000254.3(MTR):c.1329+16del
|
|
|
NM_000254.3(MTR):c.1329+19T>G
|
|
|
NM_000254.3(MTR):c.1329+9A>G
|
|
|
NM_000254.3(MTR):c.1330-10C>T
|
|
|
NM_000254.3(MTR):c.1330-12T>C
|
|
|
NM_000254.3(MTR):c.1330-2A>T
|
|
|
NM_000254.3(MTR):c.1330-5C>A
|
|
|
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
|
|
|
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
|
|
|
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp)
|
|
|
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
|
|
|
NM_000254.3(MTR):c.135G>A (p.Lys45=)
|
rs747724978
|
|
NM_000254.3(MTR):c.1362T>G (p.Ala454=)
|
rs376684560
|
|
NM_000254.3(MTR):c.136C>T (p.Leu46=)
|
|
|
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
|
|
|
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu)
|
|
|
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
|
|
|
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
|
|
|
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser)
|
rs2103166386
|
|
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
|
|
|
NM_000254.3(MTR):c.141C>T (p.Asn47=)
|
|
|
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
|
|
|
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
|
|
|
NM_000254.3(MTR):c.1475dup (p.Ala493fs)
|
|
|
NM_000254.3(MTR):c.1488G>C (p.Val496=)
|
|
|
NM_000254.3(MTR):c.1491C>T (p.Val497=)
|
|
|
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
|
|
|
NM_000254.3(MTR):c.1512del (p.Gln505fs)
|
|
|
NM_000254.3(MTR):c.1513C>T (p.Gln505Ter)
|
|
|
NM_000254.3(MTR):c.1515+14T>G
|
|
|
NM_000254.3(MTR):c.1515+16T>C
|
|
|
NM_000254.3(MTR):c.1515+17G>A
|
|
|
NM_000254.3(MTR):c.1515+2T>C
|
|
|
NM_000254.3(MTR):c.1516-11C>G
|
|
|
NM_000254.3(MTR):c.1516-11C>T
|
|
|
NM_000254.3(MTR):c.1516-15dup
|
|
|
NM_000254.3(MTR):c.1516-5C>T
|
|
|
NM_000254.3(MTR):c.1516-6C>G
|
|
|
NM_000254.3(MTR):c.1516-6C>T
|
|
|
NM_000254.3(MTR):c.1516-7T>G
|
|
|
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
|
|
|
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln)
|
rs1572261571
|
|
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
|
|
|
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
|
|
|
NM_000254.3(MTR):c.1544T>G (p.Val515Gly)
|
rs1663828645
|
|
NM_000254.3(MTR):c.1545G>A (p.Val515=)
|
|
|
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala)
|
|
|
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser)
|
|
|
NM_000254.3(MTR):c.154C>T (p.Arg52Ter)
|
|
|
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
|
|
|
NM_000254.3(MTR):c.1575A>G (p.Lys525=)
|
rs199700767
|
|
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn)
|
rs199700767
|
|
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
|
|
|
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
|
|
|
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp)
|
|
|
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
|
|
|
NM_000254.3(MTR):c.1636G>T (p.Gly546Ter)
|
|
|
NM_000254.3(MTR):c.1647A>G (p.Glu549=)
|
rs1171736020
|
|
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
|
|
|
NM_000254.3(MTR):c.1689C>A (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1689C>T (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1695+10G>A
|
|
|
NM_000254.3(MTR):c.1695+11G>A
|
|
|
NM_000254.3(MTR):c.1695+13A>G
|
|
|
NM_000254.3(MTR):c.1695+13A>T
|
|
|
NM_000254.3(MTR):c.1695+14T>C
|
|
|
NM_000254.3(MTR):c.1695+17T>G
|
|
|
NM_000254.3(MTR):c.1695+18C>T
|
|
|
NM_000254.3(MTR):c.1695+20C>T
|
|
|
NM_000254.3(MTR):c.1695+2T>A
|
|
|
NM_000254.3(MTR):c.1695+6T>C
|
|
|
NM_000254.3(MTR):c.1695+7G>A
|
|
|
NM_000254.3(MTR):c.1695+7G>T
|
rs183273480
|
|
NM_000254.3(MTR):c.1696-14A>G
|
|
|
NM_000254.3(MTR):c.1696-18T>C
|
rs2103252601
|
|
NM_000254.3(MTR):c.1696-19A>G
|
|
|
NM_000254.3(MTR):c.1696-4C>T
|
|
|
NM_000254.3(MTR):c.1696-5G>A
|
|
|
NM_000254.3(MTR):c.1696-5G>T
|
|
|
NM_000254.3(MTR):c.1696-6T>C
|
|
|
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
|
|
|
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
|
|
|
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly)
|
|
|
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
|
|
|
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
|
|
|
NM_000254.3(MTR):c.174T>C (p.Asp58=)
|
rs2103013970
|
|
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
|
|
|
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
|
|
|
NM_000254.3(MTR):c.177T>C (p.His59=)
|
|
|
NM_000254.3(MTR):c.1784A>C (p.His595Pro)
|
|
|
NM_000254.3(MTR):c.1803T>C (p.His601=)
|
|
|
NM_000254.3(MTR):c.1812+10A>G
|
|
|
NM_000254.3(MTR):c.1812+12G>T
|
|
|
NM_000254.3(MTR):c.1812+15C>T
|
|
|
NM_000254.3(MTR):c.1812+16T>A
|
|
|
NM_000254.3(MTR):c.1812+17C>T
|
|
|
NM_000254.3(MTR):c.1812_1812+1insATAC
|
|
|
NM_000254.3(MTR):c.1813-11A>G
|
rs1289723374
|
|
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
|
|
|
NM_000254.3(MTR):c.186G>A (p.Pro62=)
|
|
|
NM_000254.3(MTR):c.1871A>C (p.His624Pro)
|
|
|
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
|
|
|
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser)
|
|
|
NM_000254.3(MTR):c.18A>G (p.Gln6=)
|
|
|
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
|
|
|
NM_000254.3(MTR):c.192A>G (p.Lys64=)
|
|
|
NM_000254.3(MTR):c.194G>A (p.Gly65Asp)
|
|
|
NM_000254.3(MTR):c.1953+11A>C
|
|
|
NM_000254.3(MTR):c.1953+12A>G
|
|
|
NM_000254.3(MTR):c.1953+13G>A
|
|
|
NM_000254.3(MTR):c.1953+15G>T
|
|
|
NM_000254.3(MTR):c.1953+18C>T
|
|
|
NM_000254.3(MTR):c.1953+19T>A
|
|
|
NM_000254.3(MTR):c.1953+20A>G
|
|
|
NM_000254.3(MTR):c.1953+3A>G
|
rs781246271
|
|
NM_000254.3(MTR):c.1953+9A>C
|
|
|
NM_000254.3(MTR):c.1954-11T>A
|
|
|
NM_000254.3(MTR):c.1954-12A>C
|
rs192346180
|
|
NM_000254.3(MTR):c.1954-12A>G
|
|
|
NM_000254.3(MTR):c.1954-19G>C
|
rs2103290480
|
|
NM_000254.3(MTR):c.1954-4T>C
|
|
|
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
|
|
|
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
|
|
|
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg)
|
rs1664416870
|
|
NM_000254.3(MTR):c.1986G>T (p.Gln662His)
|
rs1664418343
|
|
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu)
|
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
NM_000254.3(MTR):c.2013C>A (p.Val671=)
|
|
|
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser)
|
rs150058137
|
|
NM_000254.3(MTR):c.2021G>A (p.Arg674His)
|
rs774231870
|
|
NM_000254.3(MTR):c.2022C>T (p.Arg674=)
|
rs2103291244
|
|
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
|
|
|
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
|
|
|
NM_000254.3(MTR):c.2043+15C>T
|
|
|
NM_000254.3(MTR):c.2043+8A>G
|
|
|
NM_000254.3(MTR):c.2043+9C>T
|
rs2103291466
|
|
NM_000254.3(MTR):c.2044-11_2044-9del
|
rs542174711
|
|
NM_000254.3(MTR):c.2044-11dup
|
|
|
NM_000254.3(MTR):c.2044-12T>C
|
|
|
NM_000254.3(MTR):c.2044-17T>C
|
|
|
NM_000254.3(MTR):c.2044-19T>C
|
|
|
NM_000254.3(MTR):c.2044-1G>A
|
|
|
NM_000254.3(MTR):c.2044-1G>T
|
|
|
NM_000254.3(MTR):c.2044-20T>C
|
|
|
NM_000254.3(MTR):c.2044-4T>C
|
|
|
NM_000254.3(MTR):c.2044-7T>G
|
|
|
NM_000254.3(MTR):c.2044-8T>C
|
rs1664517879
|
|
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp)
|
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000254.3(MTR):c.2064dup (p.Glu689Ter)
|
|
|
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
|
|
|
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter)
|
|
|
NM_000254.3(MTR):c.2100dup (p.Tyr701fs)
|
|
|
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr)
|
|
|
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
|
|
|
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)
|
|
|
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
|
|
|
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs)
|
rs797044444
|
|
NM_000254.3(MTR):c.2118T>C (p.Asn706=)
|
rs1664526437
|
|
NM_000254.3(MTR):c.2119A>G (p.Ile707Val)
|
|
|
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
|
|
|
NM_000254.3(MTR):c.2139del (p.Met713fs)
|
|
|
NM_000254.3(MTR):c.213T>C (p.Ser71=)
|
|
|
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
|
|
|
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro)
|
rs1553321807
|
|
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg)
|
|
|
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
|
|
|
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
|
|
|
NM_000254.3(MTR):c.2196+12A>C
|
rs1664530187
|
|
NM_000254.3(MTR):c.2196+13T>C
|
|
|
NM_000254.3(MTR):c.2196+15G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>C
|
|
|
NM_000254.3(MTR):c.2196+19G>A
|
rs372533462
|
|
NM_000254.3(MTR):c.2196+5G>A
|
rs2103301889
|
|
NM_000254.3(MTR):c.2197-18C>A
|
|
|
NM_000254.3(MTR):c.2197-18C>G
|
|
|
NM_000254.3(MTR):c.2197-5C>G
|
|
|
NM_000254.3(MTR):c.2197-6T>C
|
rs1328542941
|
|
NM_000254.3(MTR):c.2197-6dup
|
|
|
NM_000254.3(MTR):c.2200A>G (p.Ile734Val)
|
|
|
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
|
|
|
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
|
|
|
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln)
|
|
|
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu)
|
|
|
NM_000254.3(MTR):c.2239_2240insA (p.Leu747fs)
|
|
|
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
|
|
|
NM_000254.3(MTR):c.2242A>G (p.Ile748Val)
|
|
|
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
|
|
|
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
|
|
|
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)
|
rs1664588529
|
|
NM_000254.3(MTR):c.225T>G (p.Pro75=)
|
|
|
NM_000254.3(MTR):c.2262_2265del (p.Arg755fs)
|
|
|
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
|
|
|
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
|
|
|
NM_000254.3(MTR):c.2282T>A (p.Leu761His)
|
rs1664590593
|
|
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
|
|
|
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln)
|
|
|
NM_000254.3(MTR):c.2304+16C>A
|
|
|
NM_000254.3(MTR):c.2304+16C>T
|
|
|
NM_000254.3(MTR):c.2304+3A>C
|
rs1572283994
|
|
NM_000254.3(MTR):c.2305-11T>C
|
|
|
NM_000254.3(MTR):c.2305-11T>G
|
|
|
NM_000254.3(MTR):c.2305-14G>T
|
|
|
NM_000254.3(MTR):c.2305-1G>T
|
rs1664661222
|
|
NM_000254.3(MTR):c.2305-2A>G
|
|
|
NM_000254.3(MTR):c.2305-4C>T
|
|
|
NM_000254.3(MTR):c.2305-5T>C
|
|
|
NM_000254.3(MTR):c.2305-9C>T
|
|
|
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala)
|
rs968363996
|
|
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2333C>T (p.Ala778Val)
|
rs2103313543
|
|
NM_000254.3(MTR):c.2346C>T (p.Gly782=)
|
rs777213189
|
|
NM_000254.3(MTR):c.2347G>A (p.Asp783Asn)
|
|
|
NM_000254.3(MTR):c.2355C>T (p.His785=)
|
|
|
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn)
|
|
|
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
|
|
|
NM_000254.3(MTR):c.2385C>A (p.Val795=)
|
|
|
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp)
|
|
|
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
|
|
|
NM_000254.3(MTR):c.2405+18del
|
|
|
NM_000254.3(MTR):c.2405+1G>A
|
rs1664669480
|
|
NM_000254.3(MTR):c.2405+20C>G
|
|
|
NM_000254.3(MTR):c.2405+20C>T
|
|
|
NM_000254.3(MTR):c.2405+8A>G
|
rs886046221
|
|
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln)
|
rs760932771
|
|
NM_000254.3(MTR):c.2406-10T>C
|
|
|
NM_000254.3(MTR):c.2406-18C>G
|
|
|
NM_000254.3(MTR):c.2406-18C>T
|
|
|
NM_000254.3(MTR):c.2406-1G>A
|
|
|
NM_000254.3(MTR):c.2406-2A>T
|
|
|
NM_000254.3(MTR):c.2406-8T>G
|
|
|
NM_000254.3(MTR):c.2406-9G>C
|
|
|
NM_000254.3(MTR):c.240A>G (p.Gln80=)
|
|
|
NM_000254.3(MTR):c.2424C>G (p.Val808=)
|
|
|
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
|
|
|
NM_000254.3(MTR):c.2472A>T (p.Ala824=)
|
rs1665277178
|
|
NM_000254.3(MTR):c.2472dup (p.Asp825fs)
|
|
|
NM_000254.3(MTR):c.2473+17C>T
|
|
|
NM_000254.3(MTR):c.2473+20T>A
|
|
|
NM_000254.3(MTR):c.2473+3A>G
|
rs1665277406
|
|
NM_000254.3(MTR):c.2473+9C>A
|
|
|
NM_000254.3(MTR):c.2474-10A>T
|
|
|
NM_000254.3(MTR):c.2474-15A>T
|
|
|
NM_000254.3(MTR):c.2474-17_2474-16inv
|
|
|
NM_000254.3(MTR):c.2474-18T>C
|
rs10925256
|
|
NM_000254.3(MTR):c.2474-18_2474-17insTA
|
|
|
NM_000254.3(MTR):c.2474-18del
|
rs150727404
|
|
NM_000254.3(MTR):c.2474-19_2474-17del
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18insAA
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18inv
|
|
|
NM_000254.3(MTR):c.2474-20_2474-19insA
|
rs1665333724
|
|
NM_000254.3(MTR):c.2474-4del
|
rs546254033
|
|
NM_000254.3(MTR):c.2474-4dup
|
rs546254033
|
|
NM_000254.3(MTR):c.2474-5_2474-4del
|
rs546254033
|
|
NM_000254.3(MTR):c.2474-5_2474-4dup
|
rs546254033
|
|
NM_000254.3(MTR):c.2474-9A>C
|
|
|
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer)
|
rs1572309822
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
|
|
|
NM_000254.3(MTR):c.249+11C>T
|
|
|
NM_000254.3(MTR):c.249+15G>T
|
|
|
NM_000254.3(MTR):c.249+16del
|
|
|
NM_000254.3(MTR):c.249+19C>G
|
|
|
NM_000254.3(MTR):c.249+20C>G
|
|
|
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
|
|
|
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
|
|
|
NM_000254.3(MTR):c.250-10C>G
|
|
|
NM_000254.3(MTR):c.250-12C>G
|
|
|
NM_000254.3(MTR):c.250-15A>C
|
|
|
NM_000254.3(MTR):c.250-4dup
|
|
|
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
|
|
|
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
|
|
|
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
|
|
|
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
|
|
|
NM_000254.3(MTR):c.2531C>T (p.Ala844Val)
|
|
|
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
|
|
|
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
|
|
|
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr)
|
rs2147881808
|
|
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
|
|
|
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
|
|
|
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
|
|
|
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
|
|
|
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
|
|
|
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
|
|
|
NM_000254.3(MTR):c.2594+10A>G
|
|
|
NM_000254.3(MTR):c.2594+11C>T
|
|
|
NM_000254.3(MTR):c.2594+18G>A
|
rs1558329619
|
|
NM_000254.3(MTR):c.2594+19C>G
|
|
|
NM_000254.3(MTR):c.2594+1_2594+36dup
|
|
|
NM_000254.3(MTR):c.2594+20_2594+28dup
|
|
|
NM_000254.3(MTR):c.2594+5G>A
|
|
|
NM_000254.3(MTR):c.2595-2A>G
|
rs1558334603
|
|
NM_000254.3(MTR):c.2595-3del
|
|
|
NM_000254.3(MTR):c.2595-8C>G
|
|
|
NM_000254.3(MTR):c.2595-8C>T
|
|
|
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
|
|
|
NM_000254.3(MTR):c.2601C>T (p.His867=)
|
|
|
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
|
|
|
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
|
|
|
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)
|
rs797044443
|
|
NM_000254.3(MTR):c.2647G>A (p.Val883Ile)
|
|
|
NM_000254.3(MTR):c.2655C>T (p.Asp885=)
|
|
|
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
|
|
|
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg)
|
rs1553326540
|
|
NM_000254.3(MTR):c.2669_2670del (p.Val890fs)
|
rs794727395
|
|
NM_000254.3(MTR):c.2671G>A (p.Val891Met)
|
|
|
NM_000254.3(MTR):c.2676+11G>A
|
|
|
NM_000254.3(MTR):c.2676+14C>G
|
|
|
NM_000254.3(MTR):c.2676+17A>C
|
|
|
NM_000254.3(MTR):c.2676+17A>G
|
|
|
NM_000254.3(MTR):c.2676+19A>G
|
|
|
NM_000254.3(MTR):c.2676+23dup
|
|
|
NM_000254.3(MTR):c.2676+8G>T
|
|
|
NM_000254.3(MTR):c.2677-10dup
|
|
|
NM_000254.3(MTR):c.2677-13C>T
|
|
|
NM_000254.3(MTR):c.2677-15A>G
|
|
|
NM_000254.3(MTR):c.2677-5T>G
|
|
|
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
|
|
|
NM_000254.3(MTR):c.270A>G (p.Ala90=)
|
|
|
NM_000254.3(MTR):c.271G>C (p.Asp91His)
|
|
|
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
|
|
|
NM_000254.3(MTR):c.2730_2731delinsCT (p.Met910_Glu911delinsIleTer)
|
|
|
NM_000254.3(MTR):c.2731dup (p.Glu911fs)
|
|
|
NM_000254.3(MTR):c.2744A>T (p.Asp915Val)
|
rs977928036
|
|
NM_000254.3(MTR):c.2752C>T (p.Gln918Ter)
|
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
NM_000254.3(MTR):c.2760T>C (p.His920=)
|
|
|
NM_000254.3(MTR):c.2775+17G>A
|
|
|
NM_000254.3(MTR):c.2775+19T>G
|
|
|
NM_000254.3(MTR):c.2775+1G>T
|
|
|
NM_000254.3(MTR):c.2775+4A>G
|
|
|
NM_000254.3(MTR):c.2775+7G>A
|
|
|
NM_000254.3(MTR):c.2776-11T>G
|
|
|
NM_000254.3(MTR):c.2776-6dup
|
|
|
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
|
|
|
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
|
|
|
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs)
|
rs1666006480
|
|
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
|
|
|
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs)
|
|
|
NM_000254.3(MTR):c.2802A>G (p.Gln934=)
|
rs963291512
|
|
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
|
|
|
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)
|
|
|
NM_000254.3(MTR):c.2826G>A (p.Met942Ile)
|
|
|
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
|
|
|
NM_000254.3(MTR):c.2851+13A>G
|
|
|
NM_000254.3(MTR):c.2851+2T>G
|
rs2147922731
|
|
NM_000254.3(MTR):c.2851+8T>G
|
|
|
NM_000254.3(MTR):c.2852-11C>G
|
|
|
NM_000254.3(MTR):c.2852-13T>C
|
|
|
NM_000254.3(MTR):c.2852-15A>T
|
|
|
NM_000254.3(MTR):c.2852-17A>G
|
|
|
NM_000254.3(MTR):c.2852-18C>T
|
|
|
NM_000254.3(MTR):c.2852-4G>T
|
|
|
NM_000254.3(MTR):c.2852-7C>T
|
rs1233643439
|
|
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
|
|
|
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu)
|
|
|
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
|
|
|
NM_000254.3(MTR):c.2866A>G (p.Ile956Val)
|
|
|
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
|
|
|
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2890T>C (p.Tyr964His)
|
rs779579945
|
|
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
|
|
|
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
|
|
|
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
|
|
|
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.294T>C (p.Phe98=)
|
|
|
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.296G>A (p.Ser99Asn)
|
|
|
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
|
|
|
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
|
|
|
NM_000254.3(MTR):c.3007+15T>G
|
|
|
NM_000254.3(MTR):c.3007+1G>A
|
|
|
NM_000254.3(MTR):c.3007+1G>C
|
|
|
NM_000254.3(MTR):c.3007+20C>T
|
|
|
NM_000254.3(MTR):c.3007+7G>A
|
|
|
NM_000254.3(MTR):c.3008-13G>T
|
|
|
NM_000254.3(MTR):c.3008-15C>A
|
|
|
NM_000254.3(MTR):c.3008-19_3008-14del
|
|
|
NM_000254.3(MTR):c.3008-2A>G
|
|
|
NM_000254.3(MTR):c.3008-3T>C
|
rs1286783552
|
|
NM_000254.3(MTR):c.3008-4A>G
|
rs1224783275
|
|
NM_000254.3(MTR):c.3008-5A>G
|
|
|
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly)
|
rs1666296405
|
|
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
|
|
|
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
|
|
|
NM_000254.3(MTR):c.3046A>G (p.Met1016Val)
|
|
|
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)
|
rs1400658126
|
|
NM_000254.3(MTR):c.3057A>G (p.Thr1019=)
|
rs1394740700
|
|
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro)
|
|
|
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln)
|
rs2147939390
|
|
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp)
|
|
|
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.30A>G (p.Gln10=)
|
|
|
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
|
|
|
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg)
|
|
|
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly)
|
|
|
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
|
|
|
NM_000254.3(MTR):c.313C>T (p.Gln105Ter)
|
|
|
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe)
|
rs1572341910
|
|
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val)
|
|
|
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly)
|
rs1666303969
|
|
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
|
|
|
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
|
|
|
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
|
|
|
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
|
|
|
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
|
|
|
NM_000254.3(MTR):c.3204+11T>C
|
|
|
NM_000254.3(MTR):c.3204+14A>G
|
|
|
NM_000254.3(MTR):c.3204+20A>G
|
|
|
NM_000254.3(MTR):c.3205-12C>T
|
|
|
NM_000254.3(MTR):c.3205-13C>T
|
|
|
NM_000254.3(MTR):c.3205-15C>T
|
|
|
NM_000254.3(MTR):c.3205-16A>G
|
|
|
NM_000254.3(MTR):c.3205-18A>G
|
|
|
NM_000254.3(MTR):c.3205-7T>C
|
|
|
NM_000254.3(MTR):c.3205-8G>C
|
|
|
NM_000254.3(MTR):c.3205-9G>A
|
rs1666501324
|
|
NM_000254.3(MTR):c.3205-9G>T
|
|
|
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
|
|
|
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
|
|
|
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
|
|
|
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
|
|
|
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
|
|
|
NM_000254.3(MTR):c.3247_3248del (p.Ser1083fs)
|
|
|
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr)
|
rs1666504883
|
|
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
|
|
|
NM_000254.3(MTR):c.3269A>G (p.His1090Arg)
|
|
|
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
|
|
|
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
|
|
|
NM_000254.3(MTR):c.327C>T (p.Gly109=)
|
|
|
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
|
|
|
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
|
|
|
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
|
|
|
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu)
|
rs1221565565
|
|
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
|
|
|
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys)
|
rs1666509852
|
|
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
|
|
|
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys)
|
|
|
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
|
|
|
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
|
|
|
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)
|
|
|
NM_000254.3(MTR):c.3380dup (p.Ala1128fs)
|
rs797044445
|
|
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
|
|
|
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
|
|
|
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln)
|
rs1305962485
|
|
NM_000254.3(MTR):c.33C>T (p.Pro11=)
|
|
|
NM_000254.3(MTR):c.34+11G>C
|
|
|
NM_000254.3(MTR):c.34+13C>T
|
|
|
NM_000254.3(MTR):c.34+14C>T
|
|
|
NM_000254.3(MTR):c.34+15C>T
|
|
|
NM_000254.3(MTR):c.34+16C>A
|
|
|
NM_000254.3(MTR):c.34+19C>T
|
|
|
NM_000254.3(MTR):c.34+2T>C
|
|
|
NM_000254.3(MTR):c.34+9G>A
|
|
|
NM_000254.3(MTR):c.340-166A>C
|
|
|
NM_000254.3(MTR):c.340-20G>A
|
|
|
NM_000254.3(MTR):c.3405+17G>A
|
|
|
NM_000254.3(MTR):c.3405+19G>A
|
|
|
NM_000254.3(MTR):c.3405+21del
|
|
|
NM_000254.3(MTR):c.3405+6_3405+33dup
|
|
|
NM_000254.3(MTR):c.3406-12T>C
|
|
|
NM_000254.3(MTR):c.3406-2A>G
|
|
|
NM_000254.3(MTR):c.3406-4C>T
|
|
|
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
|
|
|
NM_000254.3(MTR):c.3424C>T (p.His1142Tyr)
|
|
|
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
|
|
|
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
|
|
|
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
|
|
|
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile)
|
|
|
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
|
|
|
NM_000254.3(MTR):c.349A>C (p.Met117Leu)
|
rs143180799
|
|
NM_000254.3(MTR):c.349A>G (p.Met117Val)
|
rs143180799
|
|
NM_000254.3(MTR):c.35-12C>T
|
|
|
NM_000254.3(MTR):c.35-14del
|
|
|
NM_000254.3(MTR):c.35-20A>G
|
|
|
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys)
|
rs756440911
|
|
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro)
|
rs778432496
|
|
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
|
|
|
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
|
|
|
NM_000254.3(MTR):c.3548A>G (p.His1183Arg)
|
|
|
NM_000254.3(MTR):c.3552C>G (p.Thr1184=)
|
rs760793648
|
|
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
|
|
|
NM_000254.3(MTR):c.3570G>A (p.Trp1190Ter)
|
|
|
NM_000254.3(MTR):c.3570_3572del (p.Trp1190_Arg1191delinsTer)
|
|
|
NM_000254.3(MTR):c.3571A>T (p.Arg1191Ter)
|
|
|
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
|
|
|
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
|
|
|
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
|
|
|
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro)
|
rs2147955084
|
|
NM_000254.3(MTR):c.3598+13A>C
|
|
|
NM_000254.3(MTR):c.3598+18G>A
|
|
|
NM_000254.3(MTR):c.3598+19C>T
|
|
|
NM_000254.3(MTR):c.3598+20G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>C
|
|
|
NM_000254.3(MTR):c.3599-17T>C
|
|
|
NM_000254.3(MTR):c.3599-4C>T
|
|
|
NM_000254.3(MTR):c.3599-5T>C
|
|
|
NM_000254.3(MTR):c.3599-6C>G
|
rs2147960863
|
|
NM_000254.3(MTR):c.3599-8C>T
|
|
|
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
|
|
|
NM_000254.3(MTR):c.3600del (p.Ile1201fs)
|
rs1346847201
|
|
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter)
|
rs121913581
|
|
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
|
|
|
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
|
|
|
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg)
|
rs777562650
|
|
NM_000254.3(MTR):c.3678A>G (p.Lys1226=)
|
rs2147961173
|
|
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
|
|
|
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg)
|
|
|
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
|
|
|
NM_000254.3(MTR):c.3711+10C>A
|
|
|
NM_000254.3(MTR):c.3711+10C>T
|
|
|
NM_000254.3(MTR):c.3711+15del
|
|
|
NM_000254.3(MTR):c.3711+20A>G
|
|
|
NM_000254.3(MTR):c.3711+22_3711+23del
|
|
|
NM_000254.3(MTR):c.3712-1G>A
|
|
|
NM_000254.3(MTR):c.3712-4G>A
|
|
|
NM_000254.3(MTR):c.3712-5del
|
|
|
NM_000254.3(MTR):c.3712-9C>A
|
|
|
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp)
|
rs2147965312
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
|
|
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
|
|
|
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
|
|
|
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
|
|
|
NM_000254.3(MTR):c.375C>T (p.Ala125=)
|
|
|
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
|
|
|
NM_000254.3(MTR):c.381del (p.Ala128fs)
|
|
|
NM_000254.3(MTR):c.387C>A (p.Ala129=)
|
|
|
NM_000254.3(MTR):c.387C>T (p.Ala129=)
|
rs575706892
|
|
NM_000254.3(MTR):c.399T>C (p.Thr133=)
|
|
|
NM_000254.3(MTR):c.402C>T (p.Leu134=)
|
|
|
NM_000254.3(MTR):c.409+14T>G
|
|
|
NM_000254.3(MTR):c.409+15_409+17del
|
rs750828089
|
|
NM_000254.3(MTR):c.409+17T>C
|
|
|
NM_000254.3(MTR):c.409+25dup
|
|
|
NM_000254.3(MTR):c.426G>C (p.Val142=)
|
|
|
NM_000254.3(MTR):c.447T>A (p.Thr149=)
|
|
|
NM_000254.3(MTR):c.452A>G (p.Lys151Arg)
|
rs2103039190
|
|
NM_000254.3(MTR):c.468C>T (p.Ser156=)
|
|
|
NM_000254.3(MTR):c.471A>G (p.Pro157=)
|
rs931152176
|
|
NM_000254.3(MTR):c.471A>T (p.Pro157=)
|
|
|
NM_000254.3(MTR):c.485C>T (p.Pro162Leu)
|
|
|
NM_000254.3(MTR):c.502+14A>G
|
|
|
NM_000254.3(MTR):c.502+16A>C
|
|
|
NM_000254.3(MTR):c.502+21_502+24dup
|
|
|
NM_000254.3(MTR):c.503-14T>C
|
|
|
NM_000254.3(MTR):c.503-15A>T
|
|
|
NM_000254.3(MTR):c.503-2A>G
|
|
|
NM_000254.3(MTR):c.504A>C (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.504A>G (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.507T>C (p.Phe169=)
|
|
|
NM_000254.3(MTR):c.510T>C (p.Asp170=)
|
|
|
NM_000254.3(MTR):c.546A>G (p.Gly182=)
|
|
|
NM_000254.3(MTR):c.573dup (p.Leu192fs)
|
|
|
NM_000254.3(MTR):c.606C>T (p.Ala202=)
|
|
|
NM_000254.3(MTR):c.609+1088G>A
|
rs752526782
|
|
NM_000254.3(MTR):c.609+14G>C
|
|
|
NM_000254.3(MTR):c.609+14G>T
|
|
|
NM_000254.3(MTR):c.609+16A>G
|
|
|
NM_000254.3(MTR):c.609+20dup
|
|
|
NM_000254.3(MTR):c.610-10del
|
|
|
NM_000254.3(MTR):c.610-12T>C
|
|
|
NM_000254.3(MTR):c.610-1G>T
|
rs1661544157
|
|
NM_000254.3(MTR):c.610-1_613dup
|
|
|
NM_000254.3(MTR):c.610-6T>C
|
rs769743026
|
|
NM_000254.3(MTR):c.610-6T>G
|
|
|
NM_000254.3(MTR):c.614C>T (p.Ala205Val)
|
|
|
NM_000254.3(MTR):c.617del (p.Leu206fs)
|
|
|
NM_000254.3(MTR):c.621T>G (p.Phe207Leu)
|
|
|
NM_000254.3(MTR):c.627C>A (p.Leu209=)
|
|
|
NM_000254.3(MTR):c.630A>G (p.Gln210=)
|
|
|
NM_000254.3(MTR):c.63G>C (p.Glu21Asp)
|
|
|
NM_000254.3(MTR):c.640del (p.Glu214fs)
|
|
|
NM_000254.3(MTR):c.648A>T (p.Lys216Asn)
|
|
|
NM_000254.3(MTR):c.648_652del (p.Lys216fs)
|
|
|
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
|
|
|
NM_000254.3(MTR):c.660G>A (p.Arg220=)
|
|
|
NM_000254.3(MTR):c.661C>G (p.Pro221Ala)
|
|
|
NM_000254.3(MTR):c.669+12dup
|
|
|
NM_000254.3(MTR):c.670-11T>C
|
|
|
NM_000254.3(MTR):c.670-20T>C
|
|
|
NM_000254.3(MTR):c.670-20T>G
|
|
|
NM_000254.3(MTR):c.681G>A (p.Thr227=)
|
|
|
NM_000254.3(MTR):c.684C>A (p.Ile228=)
|
|
|
NM_000254.3(MTR):c.699G>A (p.Gly233=)
|
|
|
NM_000254.3(MTR):c.6A>G (p.Ser2=)
|
|
|
NM_000254.3(MTR):c.702G>A (p.Arg234=)
|
|
|
NM_000254.3(MTR):c.726G>A (p.Glu242=)
|
|
|
NM_000254.3(MTR):c.741C>T (p.Ser247=)
|
|
|
NM_000254.3(MTR):c.742G>A (p.Val248Met)
|
rs142648132
|
|
NM_000254.3(MTR):c.750T>C (p.His250=)
|
|
|
NM_000254.3(MTR):c.761T>A (p.Leu254His)
|
rs2103062352
|
|
NM_000254.3(MTR):c.762C>T (p.Leu254=)
|
rs1661602756
|
|
NM_000254.3(MTR):c.764+7G>A
|
|
|
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr)
|
|
|
NM_000254.3(MTR):c.765-12C>G
|
|
|
NM_000254.3(MTR):c.765-13dup
|
|
|
NM_000254.3(MTR):c.765-4C>T
|
|
|
NM_000254.3(MTR):c.765-5T>C
|
|
|
NM_000254.3(MTR):c.786G>A (p.Leu262=)
|
|
|
NM_000254.3(MTR):c.792A>G (p.Ala264=)
|
|
|
NM_000254.3(MTR):c.80A>G (p.Gln27Arg)
|
rs1039659576
|
|
NM_000254.3(MTR):c.810_811insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAATGAGACCTTTT (p.Ile271delinsPhePhePhePhePhePheXaaXaaXaaXaaTer)
|
|
|
NM_000254.3(MTR):c.834A>G (p.Thr278=)
|
|
|
NM_000254.3(MTR):c.865+10T>C
|
|
|
NM_000254.3(MTR):c.865+12A>G
|
rs2103095649
|
|
NM_000254.3(MTR):c.865+18G>T
|
|
|
NM_000254.3(MTR):c.865+18dup
|
|
|
NM_000254.3(MTR):c.865+1GT[3]
|
rs2103095576
|
|
NM_000254.3(MTR):c.865+7G>T
|
|
|
NM_000254.3(MTR):c.866-13T>G
|
|
|
NM_000254.3(MTR):c.866-16A>C
|
|
|
NM_000254.3(MTR):c.866-2A>C
|
|
|
NM_000254.3(MTR):c.866-6T>C
|
|
|
NM_000254.3(MTR):c.866-8T>C
|
|
|
NM_000254.3(MTR):c.873C>G (p.Pro291=)
|
|
|
NM_000254.3(MTR):c.877A>G (p.Thr293Ala)
|
rs2103101092
|
|
NM_000254.3(MTR):c.879C>T (p.Thr293=)
|
|
|
NM_000254.3(MTR):c.888C>T (p.Asp296=)
|
|
|
NM_000254.3(MTR):c.894T>C (p.Asp298=)
|
|
|
NM_000254.3(MTR):c.899dup (p.Pro301fs)
|
|
|
NM_000254.3(MTR):c.900G>A (p.Thr300=)
|
|
|
NM_000254.3(MTR):c.901C>T (p.Pro301Ser)
|
rs766371534
|
|
NM_000254.3(MTR):c.906T>C (p.Ser302=)
|
|
|
NM_000254.3(MTR):c.907A>G (p.Met303Val)
|
|
|
NM_000254.3(MTR):c.915C>T (p.Ala305=)
|
|
|
NM_000254.3(MTR):c.920dup (p.His307fs)
|
|
|
NM_000254.3(MTR):c.924A>G (p.Leu308=)
|
|
|
NM_000254.3(MTR):c.927+10C>A
|
|
|
NM_000254.3(MTR):c.927+11C>A
|
|
|
NM_000254.3(MTR):c.927+14dup
|
|
|
NM_000254.3(MTR):c.927+18C>G
|
|
|
NM_000254.3(MTR):c.927+1G>A
|
|
|
NM_000254.3(MTR):c.927+1G>C
|
rs1572218599
|
|
NM_000254.3(MTR):c.927+20C>T
|
|
|
NM_000254.3(MTR):c.927+20del
|
|
|
NM_000254.3(MTR):c.927+7G>A
|
|
|
NM_000254.3(MTR):c.928-18G>A
|
|
|
NM_000254.3(MTR):c.928-19T>G
|
|
|
NM_000254.3(MTR):c.928-9T>A
|
|
|
NM_000254.3(MTR):c.963A>C (p.Gly321=)
|
|
|
NM_000254.3(MTR):c.975G>A (p.Gly325=)
|
|
|
NM_000254.3(MTR):c.981A>C (p.Thr327=)
|
|
|
NM_000254.3(MTR):c.984A>G (p.Pro328=)
|
|
|
NM_000254.3(MTR):c.987T>C (p.Asp329=)
|
|
|
NM_000254.3(MTR):c.995+14A>G
|
|
|
NM_000254.3(MTR):c.995+19C>T
|
|
|
NM_000254.3(MTR):c.996-12C>T
|
|
|
NM_000254.3(MTR):c.996-14C>T
|
|
|
NM_000254.3(MTR):c.99G>A (p.Leu33=)
|
|
|
NM_000254.3(MTR):c.9C>T (p.Pro3=)
|
rs201975748
|
|
NM_000355.3(TCN2):c.-181A>C
|
rs2240433
|
|
NM_000355.3(TCN2):c.-215C>T
|
rs79083159
|
|
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)
|
rs778381859
|
|
NM_000355.4(TCN2):c.*173C>T
|
rs896653059
|
|
NM_000355.4(TCN2):c.*209G>C
|
rs146450057
|
|
NM_000355.4(TCN2):c.*283C>G
|
rs538133033
|
|
NM_000355.4(TCN2):c.*29C>A
|
rs190828416
|
|
NM_000355.4(TCN2):c.*313dup
|
rs397940476
|
|
NM_000355.4(TCN2):c.*415T>G
|
rs560130628
|
|
NM_000355.4(TCN2):c.*93G>C
|
rs886057398
|
|
NM_000355.4(TCN2):c.-153C>G
|
rs886057395
|
|
NM_000355.4(TCN2):c.-6G>A
|
rs771507572
|
|
NM_000355.4(TCN2):c.1000C>T (p.Leu334=)
|
|
|
NM_000355.4(TCN2):c.1003C>T (p.Gln335Ter)
|
rs771755125
|
|
NM_000355.4(TCN2):c.1017C>T (p.Leu339=)
|
rs35997415
|
|
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
|
|
|
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr)
|
rs746722274
|
|
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala)
|
rs746722274
|
|
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
|
|
|
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
|
|
|
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
|
|
|
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
|
|
|
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
|
|
|
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
|
|
|
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
|
|
|
NM_000355.4(TCN2):c.1041C>A (p.Ile347=)
|
rs750640912
|
|
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys)
|
rs9621049
|
|
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu)
|
rs2087628967
|
|
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
|
|
|
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val)
|
rs951348375
|
|
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu)
|
rs778691896
|
|
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
|
|
|
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
|
|
|
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
|
|
|
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
|
|
|
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser)
|
rs1237571997
|
|
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr)
|
rs2087629933
|
|
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
|
|
|
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
|
|
|
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
|
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.1106+10C>T
|
|
|
NM_000355.4(TCN2):c.1106+11C>G
|
|
|
NM_000355.4(TCN2):c.1106+11C>T
|
rs2145548417
|
|
NM_000355.4(TCN2):c.1106+13_1106+19del
|
|
|
NM_000355.4(TCN2):c.1106+14C>T
|
|
|
NM_000355.4(TCN2):c.1106+17C>T
|
|
|
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
|
|
|
NM_000355.4(TCN2):c.1107-11C>G
|
|
|
NM_000355.4(TCN2):c.1107-11C>T
|
rs375069878
|
|
NM_000355.4(TCN2):c.1107-15C>T
|
|
|
NM_000355.4(TCN2):c.1107-17G>T
|
|
|
NM_000355.4(TCN2):c.1107-18T>C
|
|
|
NM_000355.4(TCN2):c.1107-6C>T
|
|
|
NM_000355.4(TCN2):c.1107-7T>G
|
|
|
NM_000355.4(TCN2):c.1107-9C>T
|
|
|
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys)
|
rs1406364381
|
|
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter)
|
rs1279321570
|
|
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del)
|
rs2087720255
|
|
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
|
|
|
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
|
|
|
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
|
|
|
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
|
|
|
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
|
|
|
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His)
|
rs2087720717
|
|
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys)
|
rs746024609
|
|
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter)
|
rs2087720794
|
|
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
|
|
|
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
|
|
|
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
|
|
|
NM_000355.4(TCN2):c.1164G>A (p.Ala388=)
|
rs147747593
|
|
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
|
|
|
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
|
|
|
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
|
|
|
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
|
|
|
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
|
|
|
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
|
|
|
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly)
|
rs769817524
|
|
NM_000355.4(TCN2):c.1195C>T (p.Arg399Ter)
|
|
|
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro)
|
rs4820889
|
|
NM_000355.4(TCN2):c.1206C>T (p.Asn402=)
|
rs1569045801
|
|
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
|
|
|
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
|
|
|
NM_000355.4(TCN2):c.1222+11G>A
|
|
|
NM_000355.4(TCN2):c.1222+11G>T
|
|
|
NM_000355.4(TCN2):c.1222+19C>T
|
rs2087722409
|
|
NM_000355.4(TCN2):c.1222+3G>A
|
|
|
NM_000355.4(TCN2):c.1223-10_1223-9del
|
|
|
NM_000355.4(TCN2):c.1223-15A>C
|
|
|
NM_000355.4(TCN2):c.1223-18C>G
|
|
|
NM_000355.4(TCN2):c.1223-18C>T
|
|
|
NM_000355.4(TCN2):c.1223-19G>C
|
|
|
NM_000355.4(TCN2):c.1223-20T>C
|
|
|
NM_000355.4(TCN2):c.1223-22_1223-20del
|
|
|
NM_000355.4(TCN2):c.1223-5T>G
|
|
|
NM_000355.4(TCN2):c.1223-6C>A
|
|
|
NM_000355.4(TCN2):c.1223-6C>T
|
|
|
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
|
|
|
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys)
|
rs745363222
|
|
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
|
|
|
NM_000355.4(TCN2):c.1263G>A (p.Glu421=)
|
rs1385370129
|
|
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
|
|
|
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
|
|
|
NM_000355.4(TCN2):c.1284G>A (p.Ter428=)
|
rs2145563752
|
|
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
|
|
|
NM_000355.4(TCN2):c.150G>A (p.Leu50=)
|
rs921002639
|
|
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
|
|
|
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser)
|
rs1555894597
|
|
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
|
|
|
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
|
|
|
NM_000355.4(TCN2):c.168G>A (p.Val56=)
|
rs2145536712
|
|
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
|
|
|
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
|
|
|
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
|
|
|
NM_000355.4(TCN2):c.172del (p.Leu58fs)
|
rs2145536721
|
|
NM_000355.4(TCN2):c.174A>T (p.Leu58=)
|
rs764601482
|
|
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
|
|
|
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
|
|
|
NM_000355.4(TCN2):c.17C>A (p.Ala6Asp)
|
rs2145528950
|
|
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
|
|
|
NM_000355.4(TCN2):c.18C>T (p.Ala6=)
|
|
|
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala)
|
rs2087531325
|
|
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)
|
|
|
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
|
|
|
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
|
|
|
NM_000355.4(TCN2):c.21C>T (p.Phe7=)
|
|
|
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
|
|
|
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg)
|
rs75680863
|
|
NM_000355.4(TCN2):c.236del (p.Gly79fs)
|
rs2087532435
|
|
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro)
|
rs2087532634
|
|
NM_000355.4(TCN2):c.243G>T (p.Gln81His)
|
rs2087532682
|
|
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs)
|
rs1602043738
|
|
NM_000355.4(TCN2):c.24C>G (p.Leu8=)
|
|
|
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
|
|
|
NM_000355.4(TCN2):c.257+10C>T
|
|
|
NM_000355.4(TCN2):c.257+12C>T
|
|
|
NM_000355.4(TCN2):c.257+12CT[2]
|
|
|
NM_000355.4(TCN2):c.257+15dup
|
|
|
NM_000355.4(TCN2):c.257+16C>T
|
|
|
NM_000355.4(TCN2):c.257+17T>C
|
|
|
NM_000355.4(TCN2):c.257+7C>G
|
|
|
NM_000355.4(TCN2):c.257+7C>T
|
|
|
NM_000355.4(TCN2):c.258-11C>A
|
rs746958412
|
|
NM_000355.4(TCN2):c.258-11C>G
|
|
|
NM_000355.4(TCN2):c.258-11C>T
|
|
|
NM_000355.4(TCN2):c.258-14T>G
|
|
|
NM_000355.4(TCN2):c.258-15C>T
|
|
|
NM_000355.4(TCN2):c.258-18dup
|
|
|
NM_000355.4(TCN2):c.258-1G>A
|
|
|
NM_000355.4(TCN2):c.258-8_258-6dup
|
|
|
NM_000355.4(TCN2):c.258-9T>G
|
rs2145540026
|
|
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
|
|
|
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
|
|
|
NM_000355.4(TCN2):c.27C>T (p.Phe9=)
|
|
|
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg)
|
rs11557600
|
|
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys)
|
rs11557600
|
|
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
|
|
|
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
|
|
|
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
|
|
|
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
|
|
|
NM_000355.4(TCN2):c.30T>A (p.Leu10=)
|
rs2145528985
|
|
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
|
|
|
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
|
|
|
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
|
|
|
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
|
|
|
NM_000355.4(TCN2):c.31C>G (p.Leu11Val)
|
rs2145528995
|
|
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
|
|
|
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
|
|
|
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
|
|
|
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
|
|
|
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)
|
|
|
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
|
|
|
NM_000355.4(TCN2):c.334C>G (p.Leu112Val)
|
rs777103002
|
|
NM_000355.4(TCN2):c.33G>A (p.Leu11=)
|
|
|
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
|
|
|
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
|
|
|
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
|
|
|
NM_000355.4(TCN2):c.344del (p.Asn115fs)
|
|
|
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
|
|
|
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
|
|
|
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys)
|
rs199728304
|
|
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
|
|
|
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
|
|
|
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp)
|
rs1602045889
|
|
NM_000355.4(TCN2):c.364C>T (p.His122Tyr)
|
rs373115973
|
|
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
|
|
|
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly)
|
rs552020145
|
|
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
|
|
|
NM_000355.4(TCN2):c.380del (p.Leu127fs)
|
|
|
NM_000355.4(TCN2):c.381G>A (p.Leu127=)
|
rs2145540343
|
|
NM_000355.4(TCN2):c.38del (p.Val13fs)
|
|
|
NM_000355.4(TCN2):c.3G>A (p.Met1Ile)
|
|
|
NM_000355.4(TCN2):c.402C>T (p.Phe134=)
|
rs781606712
|
|
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp)
|
rs886057396
|
|
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
|
|
|
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
|
|
|
NM_000355.4(TCN2):c.423C>T (p.Ala141=)
|
|
|
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
|
|
|
NM_000355.4(TCN2):c.426del (p.Ile142fs)
|
rs2087564577
|
|
NM_000355.4(TCN2):c.427+10C>T
|
|
|
NM_000355.4(TCN2):c.427+12C>G
|
|
|
NM_000355.4(TCN2):c.427+17C>A
|
|
|
NM_000355.4(TCN2):c.427+18G>C
|
|
|
NM_000355.4(TCN2):c.427+18G>T
|
rs373712632
|
|
NM_000355.4(TCN2):c.427+20T>C
|
|
|
NM_000355.4(TCN2):c.427+2T>G
|
rs606231119
|
|
NM_000355.4(TCN2):c.427+3G>A
|
|
|
NM_000355.4(TCN2):c.427+7A>G
|
|
|
NM_000355.4(TCN2):c.427+8G>A
|
|
|
NM_000355.4(TCN2):c.427+8G>T
|
|
|
NM_000355.4(TCN2):c.427+9A>G
|
|
|
NM_000355.4(TCN2):c.428-10T>C
|
rs2145542622
|
|
NM_000355.4(TCN2):c.428-10dup
|
rs747673857
|
|
NM_000355.4(TCN2):c.428-11T>G
|
|
|
NM_000355.4(TCN2):c.428-14T>G
|
|
|
NM_000355.4(TCN2):c.428-17_428-16del
|
rs754484246
|
|
NM_000355.4(TCN2):c.428-17_428-16dup
|
|
|
NM_000355.4(TCN2):c.428-18dup
|
|
|
NM_000355.4(TCN2):c.428-19_428-18del
|
|
|
NM_000355.4(TCN2):c.428-2A>G
|
rs2087581122
|
|
NM_000355.4(TCN2):c.428-4_428-3del
|
|
|
NM_000355.4(TCN2):c.428-5C>G
|
|
|
NM_000355.4(TCN2):c.428-5C>T
|
|
|
NM_000355.4(TCN2):c.428-7C>G
|
|
|
NM_000355.4(TCN2):c.428-9C>A
|
|
|
NM_000355.4(TCN2):c.428-9C>T
|
|
|
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
|
|
|
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
|
|
|
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
|
|
|
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
|
|
|
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
|
|
|
NM_000355.4(TCN2):c.447C>A (p.His149Gln)
|
rs770630089
|
|
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala)
|
rs776493564
|
|
NM_000355.4(TCN2):c.44G>A (p.Gly15Glu)
|
|
|
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
|
|
|
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
|
|
|
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
|
|
|
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe)
|
rs2145529052
|
|
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
|
|
|
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
|
|
|
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
|
|
|
NM_000355.4(TCN2):c.486G>A (p.Leu162=)
|
rs199546693
|
|
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
|
|
|
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
|
|
|
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
|
|
|
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
|
|
|
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
|
|
|
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
|
|
|
NM_000355.4(TCN2):c.525G>C (p.Val175=)
|
|
|
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
|
|
|
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
|
|
|
NM_000355.4(TCN2):c.54T>C (p.Thr18=)
|
|
|
NM_000355.4(TCN2):c.559C>T (p.His187Tyr)
|
rs1295178933
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000355.4(TCN2):c.565G>A (p.Gly189Ser)
|
|
|
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
|
|
|
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
|
|
|
NM_000355.4(TCN2):c.570C>T (p.His190=)
|
|
|
NM_000355.4(TCN2):c.57G>A (p.Glu19=)
|
|
|
NM_000355.4(TCN2):c.580+10T>C
|
|
|
NM_000355.4(TCN2):c.580+17G>A
|
rs184174370
|
|
NM_000355.4(TCN2):c.580+17G>T
|
|
|
NM_000355.4(TCN2):c.580+1G>C
|
|
|
NM_000355.4(TCN2):c.580+20C>T
|
|
|
NM_000355.4(TCN2):c.580+7A>G
|
|
|
NM_000355.4(TCN2):c.581-15G>A
|
|
|
NM_000355.4(TCN2):c.581-176A>C
|
|
|
NM_000355.4(TCN2):c.581-176A>G
|
|
|
NM_000355.4(TCN2):c.581-176A>T
|
rs372866837
|
|
NM_000355.4(TCN2):c.581-20G>A
|
|
|
NM_000355.4(TCN2):c.581-4C>T
|
rs867249218
|
|
NM_000355.4(TCN2):c.581-7C>A
|
rs550090290
|
|
NM_000355.4(TCN2):c.581-8A>C
|
rs7290898
|
|
NM_000355.4(TCN2):c.581-8A>G
|
rs7290898
|
|
NM_000355.4(TCN2):c.581-8A>T
|
rs7290898
|
|
NM_000355.4(TCN2):c.581-8del
|
rs2145544168
|
|
NM_000355.4(TCN2):c.581-9dup
|
rs2145544145
|
|
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu)
|
rs762023960
|
|
NM_000355.4(TCN2):c.582C>T (p.Asp194=)
|
|
|
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser)
|
rs2145544190
|
|
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
|
|
|
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
|
|
|
NM_000355.4(TCN2):c.609C>T (p.Phe203=)
|
rs1336980912
|
|
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
|
|
|
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
|
|
|
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
|
|
|
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
|
|
|
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter)
|
rs796064505
|
|
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
|
|
|
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
|
|
|
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
|
|
|
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu)
|
rs774581238
|
|
NM_000355.4(TCN2):c.64+12G>A
|
|
|
NM_000355.4(TCN2):c.64+14C>T
|
|
|
NM_000355.4(TCN2):c.64+15T>C
|
|
|
NM_000355.4(TCN2):c.64+16C>G
|
rs2145529135
|
|
NM_000355.4(TCN2):c.64+18A>G
|
|
|
NM_000355.4(TCN2):c.64+19T>A
|
|
|
NM_000355.4(TCN2):c.64+20C>T
|
|
|
NM_000355.4(TCN2):c.64+4A>T
|
|
|
NM_000355.4(TCN2):c.64+9C>T
|
|
|
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
|
|
|
NM_000355.4(TCN2):c.643C>A (p.Arg215=)
|
rs35838082
|
|
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
|
|
|
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
|
|
|
NM_000355.4(TCN2):c.65-10C>A
|
|
|
NM_000355.4(TCN2):c.65-10C>T
|
|
|
NM_000355.4(TCN2):c.65-1_65delinsTT
|
rs2145536487
|
|
NM_000355.4(TCN2):c.65-6del
|
rs748765421
|
|
NM_000355.4(TCN2):c.65-7T>C
|
|
|
NM_000355.4(TCN2):c.65-9T>C
|
|
|
NM_000355.4(TCN2):c.655A>G (p.Ile219Val)
|
rs2087597138
|
|
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
|
|
|
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
|
|
|
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
|
|
|
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
|
|
|
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
|
|
|
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln)
|
rs17849434
|
|
NM_000355.4(TCN2):c.690C>A (p.Ile230=)
|
rs779288271
|
|
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
|
|
|
NM_000355.4(TCN2):c.700del (p.Gln234fs)
|
rs2087597945
|
|
NM_000355.4(TCN2):c.705C>T (p.Thr235=)
|
rs1016983766
|
|
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser)
|
rs1382507371
|
|
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
|
|
|
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr)
|
rs755866662
|
|
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala)
|
rs755866662
|
|
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
|
|
|
NM_000355.4(TCN2):c.716A>G (p.His239Arg)
|
rs1338313632
|
|
NM_000355.4(TCN2):c.717C>T (p.His239=)
|
|
|
NM_000355.4(TCN2):c.720T>C (p.Phe240=)
|
rs368425204
|
|
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu)
|
rs368425204
|
|
NM_000355.4(TCN2):c.729C>T (p.Val243=)
|
|
|
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
|
|
|
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
|
|
|
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
|
|
|
NM_000355.4(TCN2):c.753+14C>T
|
|
|
NM_000355.4(TCN2):c.753+15C>T
|
|
|
NM_000355.4(TCN2):c.753+18G>A
|
|
|
NM_000355.4(TCN2):c.753+20G>A
|
|
|
NM_000355.4(TCN2):c.753+7A>G
|
rs758687066
|
|
NM_000355.4(TCN2):c.753+9G>A
|
|
|
NM_000355.4(TCN2):c.754-11T>A
|
|
|
NM_000355.4(TCN2):c.754-12C>T
|
|
|
NM_000355.4(TCN2):c.754-13A>G
|
rs754588956
|
|
NM_000355.4(TCN2):c.754-13_754-10del
|
|
|
NM_000355.4(TCN2):c.754-14C>G
|
|
|
NM_000355.4(TCN2):c.754-17C>T
|
|
|
NM_000355.4(TCN2):c.754-18T>C
|
|
|
NM_000355.4(TCN2):c.754-4C>A
|
rs72550761
|
|
NM_000355.4(TCN2):c.754-8A>G
|
|
|
NM_000355.4(TCN2):c.754-8_754-7del
|
|
|
NM_000355.4(TCN2):c.754-9dup
|
|
|
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
|
|
|
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
|
|
|
NM_000355.4(TCN2):c.766dup (p.Ser256fs)
|
rs1555895066
|
|
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
|
|
|
NM_000355.4(TCN2):c.772A>G (p.Met258Val)
|
rs781666065
|
|
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
|
|
|
NM_000355.4(TCN2):c.776G>A (p.Arg259His)
|
rs1801198
|
|
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
|
|
|
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe)
|
rs2145544995
|
|
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr)
|
rs1329472979
|
|
NM_000355.4(TCN2):c.810G>A (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
|
|
|
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
|
|
|
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
|
|
|
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
|
|
|
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
|
|
|
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
|
|
|
NM_000355.4(TCN2):c.843A>T (p.Gly281=)
|
rs979235252
|
|
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
|
|
|
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
|
|
|
NM_000355.4(TCN2):c.858T>G (p.Ala286=)
|
rs988793927
|
|
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
|
|
|
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
|
|
|
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala)
|
rs1423032257
|
|
NM_000355.4(TCN2):c.86_87del (p.His29fs)
|
rs2087528394
|
|
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu)
|
rs2087603700
|
|
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
|
|
|
NM_000355.4(TCN2):c.879G>A (p.Leu293=)
|
rs777393779
|
|
NM_000355.4(TCN2):c.879G>T (p.Leu293=)
|
rs777393779
|
|
NM_000355.4(TCN2):c.882C>A (p.Pro294=)
|
|
|
NM_000355.4(TCN2):c.882del (p.Val295fs)
|
rs2145545140
|
|
NM_000355.4(TCN2):c.885T>C (p.Val295=)
|
|
|
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
|
|
|
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
|
|
|
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
|
|
|
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
|
|
|
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
|
|
|
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu)
|
rs2087604329
|
|
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
|
|
|
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
|
|
|
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
|
|
|
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
|
|
|
NM_000355.4(TCN2):c.91G>A (p.Val31Ile)
|
rs2087528743
|
|
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr)
|
rs1396153308
|
|
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser)
|
rs1396153308
|
|
NM_000355.4(TCN2):c.927_930del (p.Cys309fs)
|
rs1157135425
|
|
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
|
|
|
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly)
|
rs747257199
|
|
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
|
|
|
NM_000355.4(TCN2):c.940+10C>A
|
|
|
NM_000355.4(TCN2):c.940+303_1106+746delinsCTGG
|
|
|
NM_000355.4(TCN2):c.940+3A>G
|
rs780965553
|
|
NM_000355.4(TCN2):c.941-13C>A
|
|
|
NM_000355.4(TCN2):c.941-13C>G
|
|
|
NM_000355.4(TCN2):c.941-14T>C
|
|
|
NM_000355.4(TCN2):c.941-17C>G
|
|
|
NM_000355.4(TCN2):c.941-17C>T
|
|
|
NM_000355.4(TCN2):c.941-18C>T
|
|
|
NM_000355.4(TCN2):c.941-2A>G
|
|
|
NM_000355.4(TCN2):c.941-4A>G
|
|
|
NM_000355.4(TCN2):c.941-5C>T
|
|
|
NM_000355.4(TCN2):c.941-8T>C
|
rs2145547976
|
|
NM_000355.4(TCN2):c.941-9_941-5del
|
rs1602050074
|
|
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
|
|
|
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
|
|
|
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
|
|
|
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
|
|
|
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
|
|
|
NM_000355.4(TCN2):c.987C>A (p.Ile329=)
|
rs755892011
|
|
NM_000355.4(TCN2):c.987C>G (p.Ile329Met)
|
rs755892011
|
|
NM_000355.4(TCN2):c.988A>G (p.Ile330Val)
|
rs1169605273
|
|
NM_000355.4(TCN2):c.997dup (p.Thr333fs)
|
rs2145548128
|
|
NM_000355.4(TCN2):c.9C>G (p.His3Gln)
|
rs1489889957
|
|
NM_001062.4(TCN1):c.1015T>G (p.Ser339Ala)
|
|
|
NM_001062.4(TCN1):c.1071C>A (p.Val357=)
|
|
|
NM_001062.4(TCN1):c.1122-19T>C
|
|
|
NM_001062.4(TCN1):c.112C>A (p.Pro38Thr)
|
rs1853046279
|
|
NM_001062.4(TCN1):c.1151C>T (p.Pro384Leu)
|
rs745735811
|
|
NM_001062.4(TCN1):c.1171G>T (p.Gly391Cys)
|
|
|
NM_001062.4(TCN1):c.1173C>T (p.Gly391=)
|
|
|
NM_001062.4(TCN1):c.1229C>G (p.Pro410Arg)
|
|
|
NM_001062.4(TCN1):c.1229C>T (p.Pro410Leu)
|
rs751107761
|
|
NM_001062.4(TCN1):c.1232T>C (p.Leu411Pro)
|
|
|
NM_001062.4(TCN1):c.1241-16T>G
|
|
|
NM_001062.4(TCN1):c.1286G>A (p.Arg429His)
|
|
|
NM_001062.4(TCN1):c.128T>C (p.Met43Thr)
|
|
|
NM_001062.4(TCN1):c.152G>C (p.Gly51Ala)
|
rs548081467
|
|
NM_001062.4(TCN1):c.159C>T (p.Ser53=)
|
rs200361212
|
|
NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)
|
|
|
NM_001062.4(TCN1):c.166A>T (p.Asn56Tyr)
|
|
|
NM_001062.4(TCN1):c.173T>C (p.Val58Ala)
|
|
|
NM_001062.4(TCN1):c.180C>T (p.Ser60=)
|
|
|
NM_001062.4(TCN1):c.210C>G (p.Thr70=)
|
|
|
NM_001062.4(TCN1):c.21G>T (p.Leu7=)
|
|
|
NM_001062.4(TCN1):c.259+11del
|
|
|
NM_001062.4(TCN1):c.260-10T>C
|
rs2135110203
|
|
NM_001062.4(TCN1):c.260-15T>C
|
|
|
NM_001062.4(TCN1):c.275C>T (p.Ser92Leu)
|
|
|
NM_001062.4(TCN1):c.276G>A (p.Ser92=)
|
|
|
NM_001062.4(TCN1):c.300G>A (p.Leu100=)
|
|
|
NM_001062.4(TCN1):c.344A>T (p.Asp115Val)
|
rs780641711
|
|
NM_001062.4(TCN1):c.401-15T>G
|
|
|
NM_001062.4(TCN1):c.414C>G (p.Gly138=)
|
|
|
NM_001062.4(TCN1):c.435C>T (p.Tyr145=)
|
|
|
NM_001062.4(TCN1):c.489C>G (p.Thr163=)
|
rs185999138
|
|
NM_001062.4(TCN1):c.489C>T (p.Thr163=)
|
rs185999138
|
|
NM_001062.4(TCN1):c.505C>T (p.His169Tyr)
|
rs1273915693
|
|
NM_001062.4(TCN1):c.524_530del (p.Lys175fs)
|
|
|
NM_001062.4(TCN1):c.54T>A (p.Ile18=)
|
|
|
NM_001062.4(TCN1):c.557A>C (p.Asp186Ala)
|
rs1346783372
|
|
NM_001062.4(TCN1):c.587C>T (p.Thr196Ile)
|
|
|
NM_001062.4(TCN1):c.596AGA[1] (p.Lys200del)
|
|
|
NM_001062.4(TCN1):c.597G>T (p.Lys199Asn)
|
rs200450074
|
|
NM_001062.4(TCN1):c.614G>A (p.Gly205Glu)
|
|
|
NM_001062.4(TCN1):c.622A>G (p.Lys208Glu)
|
|
|
NM_001062.4(TCN1):c.648C>T (p.Asn216=)
|
|
|
NM_001062.4(TCN1):c.660T>C (p.Tyr220=)
|
|
|
NM_001062.4(TCN1):c.662C>T (p.Thr221Ile)
|
|
|
NM_001062.4(TCN1):c.69C>A (p.Cys23Ter)
|
rs749820775
|
|
NM_001062.4(TCN1):c.69C>T (p.Cys23=)
|
rs749820775
|
|
NM_001062.4(TCN1):c.79+16G>A
|
|
|
NM_001062.4(TCN1):c.79+17C>A
|
|
|
NM_001062.4(TCN1):c.80-6C>T
|
|
|
NM_001062.4(TCN1):c.82del (p.Glu27_Val28insTer)
|
|
|
NM_001062.4(TCN1):c.909C>T (p.Asn303=)
|
|
|
NM_001062.4(TCN1):c.937+17G>T
|
|
|
NM_001062.4(TCN1):c.994T>G (p.Ser332Ala)
|
rs1852912432
|
|
NM_001062.4(TCN1):c.9G>T (p.Gln3His)
|
|
|
NM_001081.4(CUBN):c.*177C>G
|
rs886046860
|
|
NM_001081.4(CUBN):c.*267A>T
|
rs1203238498
|
|
NM_001081.4(CUBN):c.*304G>T
|
rs2131292535
|
|
NM_001081.4(CUBN):c.*329C>G
|
rs376727720
|
|
NM_001081.4(CUBN):c.*329C>T
|
rs376727720
|
|
NM_001081.4(CUBN):c.*330G>A
|
rs181630914
|
|
NM_001081.4(CUBN):c.*330G>C
|
rs181630914
|
|
NM_001081.4(CUBN):c.*420C>T
|
rs182278265
|
|
NM_001081.4(CUBN):c.*453A>G
|
rs1838716540
|
|
NM_001081.4(CUBN):c.*460C>A
|
rs1588559715
|
|
NM_001081.4(CUBN):c.*514T>G
|
rs886046854
|
|
NM_001081.4(CUBN):c.*794A>G
|
rs886046852
|
|
NM_001081.4(CUBN):c.*883G>A
|
rs886046851
|
|
NM_001081.4(CUBN):c.10011A>G (p.Leu3337=)
|
|
|
NM_001081.4(CUBN):c.10032+10A>G
|
|
|
NM_001081.4(CUBN):c.10032+9T>C
|
|
|
NM_001081.4(CUBN):c.10033-15C>T
|
|
|
NM_001081.4(CUBN):c.10033-1G>A
|
|
|
NM_001081.4(CUBN):c.1003G>C (p.Ala335Pro)
|
|
|
NM_001081.4(CUBN):c.10049G>T (p.Arg3350Ile)
|
|
|
NM_001081.4(CUBN):c.10061G>C (p.Cys3354Ser)
|
|
|
NM_001081.4(CUBN):c.10066A>G (p.Arg3356Gly)
|
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.10084C>T (p.Pro3362Ser)
|
|
|
NM_001081.4(CUBN):c.10097C>G (p.Ser3366Cys)
|
|
|
NM_001081.4(CUBN):c.10115T>C (p.Met3372Thr)
|
|
|
NM_001081.4(CUBN):c.10120A>G (p.Ile3374Val)
|
|
|
NM_001081.4(CUBN):c.10143C>G (p.Asn3381Lys)
|
rs1839164438
|
|
NM_001081.4(CUBN):c.1015+11G>A
|
|
|
NM_001081.4(CUBN):c.1015+17A>T
|
|
|
NM_001081.4(CUBN):c.1015+1G>A
|
|
|
NM_001081.4(CUBN):c.1015+8C>T
|
|
|
NM_001081.4(CUBN):c.1016-14C>T
|
|
|
NM_001081.4(CUBN):c.1016-18G>A
|
|
|
NM_001081.4(CUBN):c.10172A>G (p.Gln3391Arg)
|
|
|
NM_001081.4(CUBN):c.10176T>G (p.Ile3392Met)
|
|
|
NM_001081.4(CUBN):c.10181-9del
|
|
|
NM_001081.4(CUBN):c.10196A>T (p.Tyr3399Phe)
|
|
|
NM_001081.4(CUBN):c.10222A>C (p.Ser3408Arg)
|
|
|
NM_001081.4(CUBN):c.10245C>A (p.Tyr3415Ter)
|
rs147730705
|
|
NM_001081.4(CUBN):c.10246G>A (p.Asp3416Asn)
|
|
|
NM_001081.4(CUBN):c.10246_10258del (p.Asp3416fs)
|
|
|
NM_001081.4(CUBN):c.10250A>G (p.Asn3417Ser)
|
|
|
NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
|
|
|
NM_001081.4(CUBN):c.10283C>T (p.Pro3428Leu)
|
|
|
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs)
|
rs754704005
|
|
NM_001081.4(CUBN):c.10295C>T (p.Thr3432Ile)
|
rs7898873
|
|
NM_001081.4(CUBN):c.1029C>T (p.Asp343=)
|
|
|
NM_001081.4(CUBN):c.10311dup (p.His3438fs)
|
|
|
NM_001081.4(CUBN):c.10313A>G (p.His3438Arg)
|
|
|
NM_001081.4(CUBN):c.10363-6C>G
|
|
|
NM_001081.4(CUBN):c.1036G>C (p.Val346Leu)
|
rs886046879
|
|
NM_001081.4(CUBN):c.10380C>T (p.Asn3460=)
|
|
|
NM_001081.4(CUBN):c.10383C>A (p.Ser3461Arg)
|
|
|
NM_001081.4(CUBN):c.10397T>A (p.Leu3466Gln)
|
|
|
NM_001081.4(CUBN):c.10397T>C (p.Leu3466Pro)
|
|
|
NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
|
|
|
NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
|
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.10463G>A (p.Arg3488Gln)
|
|
|
NM_001081.4(CUBN):c.10466T>G (p.Phe3489Cys)
|
rs886046863
|
|
NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
|
|
|
NM_001081.4(CUBN):c.10492C>T (p.Arg3498Cys)
|
|
|
NM_001081.4(CUBN):c.10493G>A (p.Arg3498His)
|
|
|
NM_001081.4(CUBN):c.10495G>A (p.Gly3499Arg)
|
|
|
NM_001081.4(CUBN):c.1049C>T (p.Thr350Ile)
|
|
|
NM_001081.4(CUBN):c.10503A>G (p.Glu3501=)
|
|
|
NM_001081.4(CUBN):c.10513A>G (p.Thr3505Ala)
|
|
|
NM_001081.4(CUBN):c.10520C>A (p.Ser3507Ter)
|
|
|
NM_001081.4(CUBN):c.10522C>T (p.Pro3508Ser)
|
|
|
NM_001081.4(CUBN):c.10524C>T (p.Pro3508=)
|
|
|
NM_001081.4(CUBN):c.10526C>G (p.Ser3509Cys)
|
|
|
NM_001081.4(CUBN):c.10528+1G>A
|
|
|
NM_001081.4(CUBN):c.10529-3C>T
|
rs1838885191
|
|
NM_001081.4(CUBN):c.10544T>C (p.Leu3515Pro)
|
|
|
NM_001081.4(CUBN):c.10547A>T (p.Tyr3516Phe)
|
|
|
NM_001081.4(CUBN):c.10557_10558del (p.Gly3520fs)
|
|
|
NM_001081.4(CUBN):c.10582C>G (p.Pro3528Ala)
|
|
|
NM_001081.4(CUBN):c.10591T>C (p.Tyr3531His)
|
rs1388282481
|
|
NM_001081.4(CUBN):c.10612G>A (p.Glu3538Lys)
|
rs756614749
|
|
NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
|
|
|
NM_001081.4(CUBN):c.10656C>A (p.Asn3552Lys)
|
rs1801232
|
|
NM_001081.4(CUBN):c.10656C>T (p.Asn3552=)
|
rs1801232
|
|
NM_001081.4(CUBN):c.10673T>C (p.Ile3558Thr)
|
|
|
NM_001081.4(CUBN):c.10680T>C (p.Asp3560=)
|
|
|
NM_001081.4(CUBN):c.10695C>G (p.Val3565=)
|
|
|
NM_001081.4(CUBN):c.10727A>G (p.Asn3576Ser)
|
|
|
NM_001081.4(CUBN):c.10728C>G (p.Asn3576Lys)
|
rs368511477
|
|
NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)
|
|
|
NM_001081.4(CUBN):c.10729G>T (p.Ala3577Ser)
|
rs139051724
|
|
NM_001081.4(CUBN):c.1073G>A (p.Gly358Glu)
|
|
|
NM_001081.4(CUBN):c.10742C>T (p.Ser3581Phe)
|
rs2131299558
|
|
NM_001081.4(CUBN):c.10752A>T (p.Pro3584=)
|
rs886046862
|
|
NM_001081.4(CUBN):c.10758C>T (p.Cys3586=)
|
|
|
NM_001081.4(CUBN):c.10764+11C>T
|
rs2131299503
|
|
NM_001081.4(CUBN):c.10764+16A>G
|
|
|
NM_001081.4(CUBN):c.10765-10dup
|
|
|
NM_001081.4(CUBN):c.10765-18T>A
|
|
|
NM_001081.4(CUBN):c.10765-2A>G
|
|
|
NM_001081.4(CUBN):c.10777G>A (p.Ala3593Thr)
|
rs1838734881
|
|
NM_001081.4(CUBN):c.10777G>T (p.Ala3593Ser)
|
|
|
NM_001081.4(CUBN):c.10798A>C (p.Asn3600His)
|
rs763168436
|
|
NM_001081.4(CUBN):c.10798A>T (p.Asn3600Tyr)
|
|
|
NM_001081.4(CUBN):c.10806C>G (p.Val3602=)
|
|
|
NM_001081.4(CUBN):c.10832C>T (p.Ala3611Val)
|
|
|
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
|
|
|
NM_001081.4(CUBN):c.10846G>A (p.Ala3616Thr)
|
rs564429505
|
|
NM_001081.4(CUBN):c.10867dup (p.Ser3623fs)
|
|
|
NM_001081.4(CUBN):c.10868G>C (p.Ser3623Thr)
|
|
|
NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
|
|
|
NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly)
|
rs138044409
|
|
NM_001081.4(CUBN):c.1097G>C (p.Cys366Ser)
|
rs1564518870
|
|
NM_001081.4(CUBN):c.1107T>A (p.Thr369=)
|
|
|
NM_001081.4(CUBN):c.1111+11A>G
|
|
|
NM_001081.4(CUBN):c.1121C>T (p.Pro374Leu)
|
|
|
NM_001081.4(CUBN):c.1127G>A (p.Cys376Tyr)
|
rs2131302483
|
|
NM_001081.4(CUBN):c.1139C>T (p.Pro380Leu)
|
|
|
NM_001081.4(CUBN):c.1171G>A (p.Gly391Arg)
|
|
|
NM_001081.4(CUBN):c.1173A>T (p.Gly391=)
|
|
|
NM_001081.4(CUBN):c.1185C>T (p.Leu395=)
|
|
|
NM_001081.4(CUBN):c.1186A>G (p.Ser396Gly)
|
|
|
NM_001081.4(CUBN):c.1210T>G (p.Cys404Gly)
|
rs2131302341
|
|
NM_001081.4(CUBN):c.122+14T>C
|
|
|
NM_001081.4(CUBN):c.122+7A>G
|
|
|
NM_001081.4(CUBN):c.1220G>A (p.Gly407Glu)
|
|
|
NM_001081.4(CUBN):c.123-11G>T
|
|
|
NM_001081.4(CUBN):c.123-16C>T
|
rs2281648
|
|
NM_001081.4(CUBN):c.123-4A>G
|
|
|
NM_001081.4(CUBN):c.1230+18C>G
|
|
|
NM_001081.4(CUBN):c.1230+1G>A
|
rs386833766
|
|
NM_001081.4(CUBN):c.1230+20T>C
|
|
|
NM_001081.4(CUBN):c.1231-10T>C
|
|
|
NM_001081.4(CUBN):c.1231-9T>C
|
|
|
NM_001081.4(CUBN):c.1231-9del
|
|
|
NM_001081.4(CUBN):c.1252del (p.Cys418fs)
|
|
|
NM_001081.4(CUBN):c.128G>A (p.Arg43Gln)
|
|
|
NM_001081.4(CUBN):c.1301A>G (p.Asn434Ser)
|
|
|
NM_001081.4(CUBN):c.1316A>G (p.Asn439Ser)
|
|
|
NM_001081.4(CUBN):c.1342G>A (p.Val448Ile)
|
rs2131301048
|
|
NM_001081.4(CUBN):c.1351G>C (p.Val451Leu)
|
|
|
NM_001081.4(CUBN):c.1363A>C (p.Ser455Arg)
|
|
|
NM_001081.4(CUBN):c.1378C>T (p.Arg460Cys)
|
|
|
NM_001081.4(CUBN):c.1379G>A (p.Arg460His)
|
|
|
NM_001081.4(CUBN):c.1405G>C (p.Val469Leu)
|
rs780440368
|
|
NM_001081.4(CUBN):c.1405G>T (p.Val469Phe)
|
|
|
NM_001081.4(CUBN):c.1415_1416delinsGAT (p.Gln472fs)
|
|
|
NM_001081.4(CUBN):c.1418-16A>T
|
|
|
NM_001081.4(CUBN):c.1421del (p.Cys474fs)
|
|
|
NM_001081.4(CUBN):c.1424G>A (p.Gly475Glu)
|
|
|
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
|
|
|
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)
|
rs386833767
|
|
NM_001081.4(CUBN):c.1452C>G (p.Ser484Arg)
|
|
|
NM_001081.4(CUBN):c.1453T>G (p.Phe485Val)
|
|
|
NM_001081.4(CUBN):c.1474G>T (p.Val492Phe)
|
rs753563615
|
|
NM_001081.4(CUBN):c.1479T>C (p.Gly493=)
|
|
|
NM_001081.4(CUBN):c.1492G>A (p.Val498Ile)
|
|
|
NM_001081.4(CUBN):c.1512C>G (p.Ile504Met)
|
|
|
NM_001081.4(CUBN):c.1523T>C (p.Met508Thr)
|
|
|
NM_001081.4(CUBN):c.1526del (p.Gly509fs)
|
rs386833768
|
|
NM_001081.4(CUBN):c.1530+14C>A
|
|
|
NM_001081.4(CUBN):c.1530G>A (p.Lys510=)
|
rs386833769
|
|
NM_001081.4(CUBN):c.1537C>T (p.Arg513Cys)
|
|
|
NM_001081.4(CUBN):c.1538G>A (p.Arg513His)
|
|
|
NM_001081.4(CUBN):c.1543A>T (p.Thr515Ser)
|
|
|
NM_001081.4(CUBN):c.1547T>C (p.Phe516Ser)
|
|
|
NM_001081.4(CUBN):c.1549A>G (p.Thr517Ala)
|
|
|
NM_001081.4(CUBN):c.154G>T (p.Val52Leu)
|
|
|
NM_001081.4(CUBN):c.1553T>C (p.Phe518Ser)
|
rs2131296213
|
|
NM_001081.4(CUBN):c.1559G>A (p.Arg520Gln)
|
|
|
NM_001081.4(CUBN):c.1559G>T (p.Arg520Leu)
|
|
|
NM_001081.4(CUBN):c.1567T>C (p.Ser523Pro)
|
|
|
NM_001081.4(CUBN):c.1570A>G (p.Met524Val)
|
|
|
NM_001081.4(CUBN):c.1576A>G (p.Asn526Asp)
|
|
|
NM_001081.4(CUBN):c.1586A>G (p.His529Arg)
|
|
|
NM_001081.4(CUBN):c.1616C>T (p.Ser539Phe)
|
|
|
NM_001081.4(CUBN):c.1634T>G (p.Leu545Arg)
|
|
|
NM_001081.4(CUBN):c.1662T>A (p.Pro554=)
|
rs2131296039
|
|
NM_001081.4(CUBN):c.1674C>T (p.Leu558=)
|
|
|
NM_001081.4(CUBN):c.1685A>G (p.Asn562Ser)
|
|
|
NM_001081.4(CUBN):c.1688C>T (p.Ala563Val)
|
rs2131295988
|
|
NM_001081.4(CUBN):c.1712A>G (p.Glu571Gly)
|
|
|
NM_001081.4(CUBN):c.1735T>A (p.Phe579Ile)
|
|
|
NM_001081.4(CUBN):c.1739C>G (p.Thr580Arg)
|
|
|
NM_001081.4(CUBN):c.1747T>C (p.Trp583Arg)
|
|
|
NM_001081.4(CUBN):c.1752A>T (p.Glu584Asp)
|
|
|
NM_001081.4(CUBN):c.1765+12C>A
|
|
|
NM_001081.4(CUBN):c.1766-10C>G
|
rs2131869671
|
|
NM_001081.4(CUBN):c.1766-14C>T
|
|
|
NM_001081.4(CUBN):c.1777A>T (p.Ile593Phe)
|
|
|
NM_001081.4(CUBN):c.1788T>C (p.Gly596=)
|
|
|
NM_001081.4(CUBN):c.1795G>A (p.Gly599Ser)
|
|
|
NM_001081.4(CUBN):c.17T>C (p.Leu6Ser)
|
|
|
NM_001081.4(CUBN):c.1805A>T (p.Lys602Met)
|
|
|
NM_001081.4(CUBN):c.1819C>A (p.Pro607Thr)
|
|
|
NM_001081.4(CUBN):c.181A>T (p.Ile61Phe)
|
|
|
NM_001081.4(CUBN):c.1831C>T (p.Pro611Ser)
|
|
|
NM_001081.4(CUBN):c.1833C>T (p.Pro611=)
|
rs1215660752
|
|
NM_001081.4(CUBN):c.1837G>A (p.Gly613Arg)
|
|
|
NM_001081.4(CUBN):c.1837G>C (p.Gly613Arg)
|
rs2131869531
|
|
NM_001081.4(CUBN):c.1838del (p.Gly613fs)
|
rs386833770
|
|
NM_001081.4(CUBN):c.1844A>G (p.Asp615Gly)
|
|
|
NM_001081.4(CUBN):c.1887A>G (p.Thr629=)
|
rs2131869453
|
|
NM_001081.4(CUBN):c.1892del (p.Thr631fs)
|
rs2131869439
|
|
NM_001081.4(CUBN):c.1911C>T (p.Leu637=)
|
rs41289311
|
|
NM_001081.4(CUBN):c.1915C>A (p.His639Asn)
|
rs370816201
|
|
NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)
|
|
|
NM_001081.4(CUBN):c.192A>G (p.Arg64=)
|
|
|
NM_001081.4(CUBN):c.1934A>G (p.Lys645Arg)
|
|
|
NM_001081.4(CUBN):c.1942C>T (p.Leu648Phe)
|
rs2131869310
|
|
NM_001081.4(CUBN):c.1947+19A>G
|
|
|
NM_001081.4(CUBN):c.1948-7G>C
|
|
|
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)
|
rs182512508
|
|
NM_001081.4(CUBN):c.1952G>A (p.Arg651Gln)
|
|
|
NM_001081.4(CUBN):c.1953A>C (p.Arg651=)
|
rs2131865611
|
|
NM_001081.4(CUBN):c.1965G>A (p.Leu655=)
|
|
|
NM_001081.4(CUBN):c.1972G>A (p.Asp658Asn)
|
|
|
NM_001081.4(CUBN):c.1973A>G (p.Asp658Gly)
|
|
|
NM_001081.4(CUBN):c.1996A>C (p.Thr666Pro)
|
|
|
NM_001081.4(CUBN):c.1997C>T (p.Thr666Ile)
|
|
|
NM_001081.4(CUBN):c.2015C>G (p.Pro672Arg)
|
rs776433038
|
|
NM_001081.4(CUBN):c.2015C>T (p.Pro672Leu)
|
|
|
NM_001081.4(CUBN):c.2017C>T (p.Leu673Phe)
|
|
|
NM_001081.4(CUBN):c.2032C>G (p.Pro678Ala)
|
rs1348130743
|
|
NM_001081.4(CUBN):c.2053dup (p.His685fs)
|
|
|
NM_001081.4(CUBN):c.2067G>A (p.Gln689=)
|
|
|
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)
|
rs386833772
|
|
NM_001081.4(CUBN):c.2077C>G (p.Gln693Glu)
|
rs2131865388
|
|
NM_001081.4(CUBN):c.2087A>G (p.His696Arg)
|
|
|
NM_001081.4(CUBN):c.2096A>G (p.Tyr699Cys)
|
|
|
NM_001081.4(CUBN):c.2110+10C>A
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110+10C>G
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110+17T>C
|
|
|
NM_001081.4(CUBN):c.2110T>G (p.Ser704Ala)
|
rs2131865310
|
|
NM_001081.4(CUBN):c.2111-15C>G
|
|
|
NM_001081.4(CUBN):c.2111-19G>A
|
|
|
NM_001081.4(CUBN):c.2111-20C>T
|
|
|
NM_001081.4(CUBN):c.2111-5C>T
|
|
|
NM_001081.4(CUBN):c.2132A>G (p.Asn711Ser)
|
|
|
NM_001081.4(CUBN):c.2135A>G (p.Tyr712Cys)
|
|
|
NM_001081.4(CUBN):c.2139G>A (p.Thr713=)
|
|
|
NM_001081.4(CUBN):c.2145A>G (p.Pro715=)
|
|
|
NM_001081.4(CUBN):c.2151T>C (p.Gly717=)
|
rs1836053318
|
|
NM_001081.4(CUBN):c.2153A>C (p.Glu718Ala)
|
|
|
NM_001081.4(CUBN):c.2157C>G (p.Leu719=)
|
rs2131863775
|
|
NM_001081.4(CUBN):c.2164C>T (p.Pro722Ser)
|
|
|
NM_001081.4(CUBN):c.2184C>T (p.Phe728=)
|
rs1836051485
|
|
NM_001081.4(CUBN):c.2191_2192del (p.Thr731fs)
|
rs2131863686
|
|
NM_001081.4(CUBN):c.2192C>T (p.Thr731Ile)
|
|
|
NM_001081.4(CUBN):c.2256C>A (p.His752Gln)
|
|
|
NM_001081.4(CUBN):c.2257G>A (p.Val753Met)
|
|
|
NM_001081.4(CUBN):c.2258T>A (p.Val753Glu)
|
|
|
NM_001081.4(CUBN):c.2275A>G (p.Ser759Gly)
|
|
|
NM_001081.4(CUBN):c.2294A>G (p.Tyr765Cys)
|
|
|
NM_001081.4(CUBN):c.22T>C (p.Phe8Leu)
|
|
|
NM_001081.4(CUBN):c.2301+10A>T
|
rs1371114573
|
|
NM_001081.4(CUBN):c.2301+18A>G
|
rs202001092
|
|
NM_001081.4(CUBN):c.2301G>C (p.Glu767Asp)
|
|
|
NM_001081.4(CUBN):c.2302G>T (p.Val768Phe)
|
|
|
NM_001081.4(CUBN):c.2305C>T (p.Arg769Ter)
|
rs776704427
|
|
NM_001081.4(CUBN):c.2309A>T (p.Asp770Val)
|
|
|
NM_001081.4(CUBN):c.2322A>C (p.Leu774Phe)
|
|
|
NM_001081.4(CUBN):c.2329A>G (p.Lys777Glu)
|
|
|
NM_001081.4(CUBN):c.2343C>T (p.Asn781=)
|
|
|
NM_001081.4(CUBN):c.2349C>G (p.Thr783=)
|
|
|
NM_001081.4(CUBN):c.236G>A (p.Ser79Asn)
|
|
|
NM_001081.4(CUBN):c.2375A>G (p.Asn792Ser)
|
|
|
NM_001081.4(CUBN):c.240G>C (p.Glu80Asp)
|
|
|
NM_001081.4(CUBN):c.2446+14T>C
|
|
|
NM_001081.4(CUBN):c.2446+14_2446+15del
|
rs752528712
|
|
NM_001081.4(CUBN):c.2446+9A>G
|
|
|
NM_001081.4(CUBN):c.2446G>A (p.Ala816Thr)
|
|
|
NM_001081.4(CUBN):c.2447-15T>A
|
rs886046877
|
|
NM_001081.4(CUBN):c.2447-20T>G
|
|
|
NM_001081.4(CUBN):c.2447-9T>C
|
|
|
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
|
|
|
NM_001081.4(CUBN):c.2455G>A (p.Asp819Asn)
|
|
|
NM_001081.4(CUBN):c.2461T>G (p.Leu821Val)
|
|
|
NM_001081.4(CUBN):c.2470G>A (p.Glu824Lys)
|
|
|
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)
|
rs386833773
|
|
NM_001081.4(CUBN):c.2490T>A (p.Pro830=)
|
|
|
NM_001081.4(CUBN):c.2493T>C (p.Phe831=)
|
|
|
NM_001081.4(CUBN):c.2495T>G (p.Phe832Cys)
|
|
|
NM_001081.4(CUBN):c.2496T>G (p.Phe832Leu)
|
|
|
NM_001081.4(CUBN):c.2496del (p.Pro833fs)
|
|
|
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
|
|
|
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)
|
rs386833774
|
|
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)
|
rs386833775
|
|
NM_001081.4(CUBN):c.252+1G>A
|
rs386833776
|
|
NM_001081.4(CUBN):c.2527A>T (p.Arg843Trp)
|
|
|
NM_001081.4(CUBN):c.2528G>T (p.Arg843Met)
|
|
|
NM_001081.4(CUBN):c.253-16C>A
|
|
|
NM_001081.4(CUBN):c.2575dup (p.Thr859fs)
|
|
|
NM_001081.4(CUBN):c.2578del (p.Val860fs)
|
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2628T>G (p.Ile876Met)
|
|
|
NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly)
|
rs563114115
|
|
NM_001081.4(CUBN):c.2637T>C (p.Ser879=)
|
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2674G>A (p.Gly892Ser)
|
|
|
NM_001081.4(CUBN):c.2678C>T (p.Thr893Ile)
|
|
|
NM_001081.4(CUBN):c.2726C>T (p.Thr909Ile)
|
|
|
NM_001081.4(CUBN):c.2733G>T (p.Val911=)
|
|
|
NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
|
|
|
NM_001081.4(CUBN):c.2767G>A (p.Ala923Thr)
|
|
|
NM_001081.4(CUBN):c.2779G>A (p.Ala927Thr)
|
|
|
NM_001081.4(CUBN):c.2790G>C (p.Leu930Phe)
|
|
|
NM_001081.4(CUBN):c.2791+16dup
|
|
|
NM_001081.4(CUBN):c.2791+19T>C
|
|
|
NM_001081.4(CUBN):c.2791G>A (p.Ala931Thr)
|
rs1042319182
|
|
NM_001081.4(CUBN):c.2792-1G>T
|
rs2131845016
|
|
NM_001081.4(CUBN):c.2792-5_2795del
|
|
|
NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
|
|
|
NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
|
|
|
NM_001081.4(CUBN):c.2810C>G (p.Thr937Arg)
|
rs200383906
|
|
NM_001081.4(CUBN):c.2827A>T (p.Ile943Phe)
|
|
|
NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
|
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.2860C>G (p.His954Asp)
|
|
|
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
|
|
|
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
|
|
|
NM_001081.4(CUBN):c.2876C>G (p.Thr959Ser)
|
|
|
NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)
|
|
|
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)
|
rs386833779
|
|
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser)
|
rs200851536
|
|
NM_001081.4(CUBN):c.2954G>A (p.Cys985Tyr)
|
|
|
NM_001081.4(CUBN):c.2980G>T (p.Asp994Tyr)
|
|
|
NM_001081.4(CUBN):c.2985C>T (p.Thr995=)
|
|
|
NM_001081.4(CUBN):c.3008+2_3008+5del
|
rs2131844654
|
|
NM_001081.4(CUBN):c.3008+9_3008+12dup
|
rs772081536
|
|
NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
|
|
|
NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
|
|
|
NM_001081.4(CUBN):c.302G>A (p.Gly101Asp)
|
|
|
NM_001081.4(CUBN):c.3044G>T (p.Ser1015Ile)
|
|
|
NM_001081.4(CUBN):c.3049G>A (p.Gly1017Ser)
|
rs1207798792
|
|
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)
|
rs386833780
|
|
NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
|
|
|
NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)
|
|
|
NM_001081.4(CUBN):c.3103T>G (p.Phe1035Val)
|
|
|
NM_001081.4(CUBN):c.3105C>T (p.Phe1035=)
|
rs2131842230
|
|
NM_001081.4(CUBN):c.3124A>T (p.Ile1042Phe)
|
|
|
NM_001081.4(CUBN):c.3127A>G (p.Ser1043Gly)
|
|
|
NM_001081.4(CUBN):c.312A>G (p.Gln104=)
|
|
|
NM_001081.4(CUBN):c.3138del (p.Ala1047fs)
|
|
|
NM_001081.4(CUBN):c.3139+15T>C
|
|
|
NM_001081.4(CUBN):c.313A>G (p.Asn105Asp)
|
|
|
NM_001081.4(CUBN):c.3140-19G>A
|
|
|
NM_001081.4(CUBN):c.3143G>A (p.Cys1048Tyr)
|
|
|
NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)
|
|
|
NM_001081.4(CUBN):c.3197A>G (p.Asn1066Ser)
|
|
|
NM_001081.4(CUBN):c.3210C>A (p.Asn1070Lys)
|
|
|
NM_001081.4(CUBN):c.3220T>A (p.Cys1074Ser)
|
|
|
NM_001081.4(CUBN):c.322A>G (p.Ser108Gly)
|
rs1564526263
|
|
NM_001081.4(CUBN):c.3230G>A (p.Arg1077Gln)
|
rs184585798
|
|
NM_001081.4(CUBN):c.3238G>A (p.Val1080Met)
|
rs2131822280
|
|
NM_001081.4(CUBN):c.3295A>G (p.Ile1099Val)
|
|
|
NM_001081.4(CUBN):c.3329+12_3329+16del
|
|
|
NM_001081.4(CUBN):c.3329+1G>T
|
rs1205598688
|
|
NM_001081.4(CUBN):c.3329+8C>A
|
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3330-9T>G
|
|
|
NM_001081.4(CUBN):c.3335G>A (p.Gly1112Glu)
|
rs2131820786
|
|
NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln)
|
rs1325425384
|
|
NM_001081.4(CUBN):c.3424A>C (p.Lys1142Gln)
|
|
|
NM_001081.4(CUBN):c.3443T>C (p.Ile1148Thr)
|
|
|
NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
|
|
|
NM_001081.4(CUBN):c.3464C>T (p.Ser1155Leu)
|
|
|
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)
|
rs1564492988
|
|
NM_001081.4(CUBN):c.3477T>C (p.Asp1159=)
|
rs2131820566
|
|
NM_001081.4(CUBN):c.347A>G (p.Lys116Arg)
|
|
|
NM_001081.4(CUBN):c.348+18G>A
|
|
|
NM_001081.4(CUBN):c.348+4A>G
|
|
|
NM_001081.4(CUBN):c.348G>A (p.Lys116=)
|
|
|
NM_001081.4(CUBN):c.349-11C>T
|
|
|
NM_001081.4(CUBN):c.349-13T>G
|
|
|
NM_001081.4(CUBN):c.3490+16C>G
|
|
|
NM_001081.4(CUBN):c.349C>A (p.Leu117Met)
|
rs1588661287
|
|
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
|
|
|
NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
|
|
|
NM_001081.4(CUBN):c.3551C>G (p.Pro1184Arg)
|
rs886046876
|
|
NM_001081.4(CUBN):c.3551C>T (p.Pro1184Leu)
|
|
|
NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
|
|
|
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)
|
rs386833783
|
|
NM_001081.4(CUBN):c.3578G>A (p.Trp1193Ter)
|
|
|
NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
|
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3604G>T (p.Ala1202Ser)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.3616G>A (p.Glu1206Lys)
|
|
|
NM_001081.4(CUBN):c.3649A>G (p.Asn1217Asp)
|
|
|
NM_001081.4(CUBN):c.3656C>G (p.Thr1219Ser)
|
|
|
NM_001081.4(CUBN):c.3672+17C>T
|
|
|
NM_001081.4(CUBN):c.3672+2T>C
|
|
|
NM_001081.4(CUBN):c.3672+5G>C
|
|
|
NM_001081.4(CUBN):c.3674T>C (p.Val1225Ala)
|
|
|
NM_001081.4(CUBN):c.3685C>G (p.Pro1229Ala)
|
|
|
NM_001081.4(CUBN):c.3718T>G (p.Cys1240Gly)
|
|
|
NM_001081.4(CUBN):c.3743T>C (p.Ile1248Thr)
|
|
|
NM_001081.4(CUBN):c.3745C>A (p.Arg1249Ser)
|
|
|
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)
|
rs386833784
|
|
NM_001081.4(CUBN):c.3752G>T (p.Ser1251Ile)
|
|
|
NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
|
|
|
NM_001081.4(CUBN):c.3788A>G (p.Glu1263Gly)
|
|
|
NM_001081.4(CUBN):c.37C>T (p.Leu13Phe)
|
|
|
NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
|
|
|
NM_001081.4(CUBN):c.3823C>T (p.Arg1275Trp)
|
rs189294363
|
|
NM_001081.4(CUBN):c.3829+1G>A
|
|
|
NM_001081.4(CUBN):c.382C>T (p.Gln128Ter)
|
rs374695194
|
|
NM_001081.4(CUBN):c.3830-15C>T
|
|
|
NM_001081.4(CUBN):c.3832T>C (p.Cys1278Arg)
|
|
|
NM_001081.4(CUBN):c.3844G>A (p.Val1282Ile)
|
|
|
NM_001081.4(CUBN):c.387+11dup
|
|
|
NM_001081.4(CUBN):c.387+16C>T
|
rs766616600
|
|
NM_001081.4(CUBN):c.3894T>A (p.Asn1298Lys)
|
|
|
NM_001081.4(CUBN):c.3899A>T (p.Tyr1300Phe)
|
|
|
NM_001081.4(CUBN):c.3907A>C (p.Asn1303His)
|
|
|
NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
|
|
|
NM_001081.4(CUBN):c.3928A>G (p.Ile1310Val)
|
rs1325181765
|
|
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr)
|
rs1588604587
|
|
NM_001081.4(CUBN):c.3931C>G (p.Arg1311Gly)
|
|
|
NM_001081.4(CUBN):c.3931C>T (p.Arg1311Trp)
|
rs776683073
|
|
NM_001081.4(CUBN):c.3960C>T (p.Tyr1320=)
|
|
|
NM_001081.4(CUBN):c.397A>G (p.Lys133Glu)
|
|
|
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)
|
rs386833785
|
|
NM_001081.4(CUBN):c.4005A>G (p.Thr1335=)
|
|
|
NM_001081.4(CUBN):c.400A>G (p.Lys134Glu)
|
|
|
NM_001081.4(CUBN):c.4015G>C (p.Glu1339Gln)
|
|
|
NM_001081.4(CUBN):c.4020C>G (p.Leu1340=)
|
rs769326338
|
|
NM_001081.4(CUBN):c.4033C>T (p.Arg1345Trp)
|
|
|
NM_001081.4(CUBN):c.4042G>T (p.Gly1348Ter)
|
|
|
NM_001081.4(CUBN):c.4045C>A (p.Arg1349Ser)
|
|
|
NM_001081.4(CUBN):c.4069C>G (p.Pro1357Ala)
|
rs780012075
|
|
NM_001081.4(CUBN):c.4072C>A (p.Pro1358Thr)
|
|
|
NM_001081.4(CUBN):c.4094A>G (p.Lys1365Arg)
|
rs2131782772
|
|
NM_001081.4(CUBN):c.409A>C (p.Ser137Arg)
|
rs202053511
|
|
NM_001081.4(CUBN):c.4104G>T (p.Val1368=)
|
rs1480495431
|
|
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)
|
rs386833786
|
|
NM_001081.4(CUBN):c.4130G>A (p.Arg1377His)
|
|
|
NM_001081.4(CUBN):c.4133G>A (p.Arg1378His)
|
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4168+17T>A
|
|
|
NM_001081.4(CUBN):c.4169-13del
|
|
|
NM_001081.4(CUBN):c.4169-15T>C
|
|
|
NM_001081.4(CUBN):c.4169-17C>A
|
|
|
NM_001081.4(CUBN):c.4169-18A>G
|
|
|
NM_001081.4(CUBN):c.4171T>C (p.Cys1391Arg)
|
|
|
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=)
|
rs544694254
|
|
NM_001081.4(CUBN):c.4214C>T (p.Pro1405Leu)
|
|
|
NM_001081.4(CUBN):c.4223C>G (p.Pro1408Arg)
|
|
|
NM_001081.4(CUBN):c.4229G>A (p.Arg1410Lys)
|
|
|
NM_001081.4(CUBN):c.424C>A (p.Gln142Lys)
|
|
|
NM_001081.4(CUBN):c.424C>T (p.Gln142Ter)
|
rs765941616
|
|
NM_001081.4(CUBN):c.4264A>G (p.Arg1422Gly)
|
|
|
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
|
|
|
NM_001081.4(CUBN):c.4276G>A (p.Gly1426Arg)
|
|
|
NM_001081.4(CUBN):c.4280G>C (p.Ser1427Thr)
|
rs754229455
|
|
NM_001081.4(CUBN):c.4283G>C (p.Ser1428Thr)
|
|
|
NM_001081.4(CUBN):c.4295C>T (p.Thr1432Ile)
|
|
|
NM_001081.4(CUBN):c.4302T>C (p.His1434=)
|
rs2131715844
|
|
NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
|
|
|
NM_001081.4(CUBN):c.4322A>G (p.His1441Arg)
|
|
|
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)
|
rs386833788
|
|
NM_001081.4(CUBN):c.4350+13A>G
|
|
|
NM_001081.4(CUBN):c.4350+2T>C
|
rs371489485
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4350+8G>A
|
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
NM_001081.4(CUBN):c.4351-6T>C
|
|
|
NM_001081.4(CUBN):c.4356T>G (p.Tyr1452Ter)
|
|
|
NM_001081.4(CUBN):c.4361G>A (p.Gly1454Asp)
|
|
|
NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
|
|
|
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
|
|
|
NM_001081.4(CUBN):c.4376C>T (p.Ser1459Phe)
|
|
|
NM_001081.4(CUBN):c.4378C>T (p.Pro1460Ser)
|
|
|
NM_001081.4(CUBN):c.4397G>A (p.Cys1466Tyr)
|
|
|
NM_001081.4(CUBN):c.4426C>G (p.Gln1476Glu)
|
rs867893935
|
|
NM_001081.4(CUBN):c.4448A>C (p.Glu1483Ala)
|
|
|
NM_001081.4(CUBN):c.4460G>A (p.Arg1487Gln)
|
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
|
|
|
NM_001081.4(CUBN):c.4468A>T (p.Thr1490Ser)
|
rs2131700976
|
|
NM_001081.4(CUBN):c.4502C>A (p.Ala1501Glu)
|
|
|
NM_001081.4(CUBN):c.4526-10C>T
|
|
|
NM_001081.4(CUBN):c.4526-9C>A
|
rs752803274
|
|
NM_001081.4(CUBN):c.4526-9del
|
|
|
NM_001081.4(CUBN):c.4529G>A (p.Cys1510Tyr)
|
|
|
NM_001081.4(CUBN):c.4562T>C (p.Ile1521Thr)
|
|
|
NM_001081.4(CUBN):c.4562_4563delinsCA (p.Ile1521Thr)
|
|
|
NM_001081.4(CUBN):c.4573A>G (p.Asn1525Asp)
|
|
|
NM_001081.4(CUBN):c.4586C>G (p.Pro1529Arg)
|
rs1251118545
|
|
NM_001081.4(CUBN):c.4603G>A (p.Asp1535Asn)
|
|
|
NM_001081.4(CUBN):c.4633A>C (p.Asn1545His)
|
rs1391948790
|
|
NM_001081.4(CUBN):c.463T>G (p.Phe155Val)
|
rs2131324118
|
|
NM_001081.4(CUBN):c.4640G>A (p.Arg1547His)
|
|
|
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
|
|
|
NM_001081.4(CUBN):c.4676C>A (p.Pro1559Gln)
|
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4691_4695+3del
|
|
|
NM_001081.4(CUBN):c.4695+1G>T
|
|
|
NM_001081.4(CUBN):c.4695+5G>A
|
|
|
NM_001081.4(CUBN):c.4720A>G (p.Met1574Val)
|
rs1482983523
|
|
NM_001081.4(CUBN):c.4727G>A (p.Arg1576His)
|
|
|
NM_001081.4(CUBN):c.4743T>G (p.Cys1581Trp)
|
|
|
NM_001081.4(CUBN):c.475C>A (p.Pro159Thr)
|
|
|
NM_001081.4(CUBN):c.476C>T (p.Pro159Leu)
|
|
|
NM_001081.4(CUBN):c.4770C>G (p.Ile1590Met)
|
|
|
NM_001081.4(CUBN):c.4771G>A (p.Val1591Ile)
|
|
|
NM_001081.4(CUBN):c.4771G>C (p.Val1591Leu)
|
|
|
NM_001081.4(CUBN):c.4779A>G (p.Ser1593=)
|
|
|
NM_001081.4(CUBN):c.4799G>A (p.Arg1600Lys)
|
|
|
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
|
|
|
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=)
|
rs1588515934
|
|
NM_001081.4(CUBN):c.4819A>G (p.Arg1607Gly)
|
|
|
NM_001081.4(CUBN):c.4823A>G (p.Gln1608Arg)
|
|
|
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
|
|
|
NM_001081.4(CUBN):c.4844A>G (p.Gln1615Arg)
|
|
|
NM_001081.4(CUBN):c.4855+1G>A
|
|
|
NM_001081.4(CUBN):c.4855+20T>C
|
|
|
NM_001081.4(CUBN):c.4856-13G>C
|
|
|
NM_001081.4(CUBN):c.4856-16T>C
|
rs2131629888
|
|
NM_001081.4(CUBN):c.4869C>T (p.His1623=)
|
|
|
NM_001081.4(CUBN):c.4873C>T (p.Leu1625Phe)
|
|
|
NM_001081.4(CUBN):c.4877C>T (p.Thr1626Ile)
|
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.489+19G>A
|
|
|
NM_001081.4(CUBN):c.489+2_489+4dup
|
rs1588658746
|
|
NM_001081.4(CUBN):c.489+3G>A
|
rs555885592
|
|
NM_001081.4(CUBN):c.489G>A (p.Lys163=)
|
rs386833789
|
|
NM_001081.4(CUBN):c.490-4A>T
|
|
|
NM_001081.4(CUBN):c.490-8G>A
|
|
|
NM_001081.4(CUBN):c.490-8G>C
|
|
|
NM_001081.4(CUBN):c.4912C>T (p.Pro1638Ser)
|
|
|
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs)
|
rs1564443979
|
|
NM_001081.4(CUBN):c.4931A>G (p.Asn1644Ser)
|
|
|
NM_001081.4(CUBN):c.4934A>G (p.Gln1645Arg)
|
rs1243565121
|
|
NM_001081.4(CUBN):c.4963C>A (p.Pro1655Thr)
|
|
|
NM_001081.4(CUBN):c.4969+1G>A
|
|
|
NM_001081.4(CUBN):c.4969+2T>G
|
|
|
NM_001081.4(CUBN):c.496C>T (p.Leu166Phe)
|
|
|
NM_001081.4(CUBN):c.4970-16C>T
|
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.4987T>C (p.Ser1663Pro)
|
|
|
NM_001081.4(CUBN):c.4A>G (p.Met2Val)
|
|
|
NM_001081.4(CUBN):c.5005C>A (p.Leu1669Ile)
|
|
|
NM_001081.4(CUBN):c.5008G>C (p.Glu1670Gln)
|
|
|
NM_001081.4(CUBN):c.5011A>G (p.Arg1671Gly)
|
|
|
NM_001081.4(CUBN):c.5022G>A (p.Thr1674=)
|
rs528059511
|
|
NM_001081.4(CUBN):c.5032G>A (p.Asp1678Asn)
|
|
|
NM_001081.4(CUBN):c.5068G>A (p.Ala1690Thr)
|
|
|
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
|
|
|
NM_001081.4(CUBN):c.5074del (p.Leu1692fs)
|
|
|
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
|
|
|
NM_001081.4(CUBN):c.5080+11G>A
|
|
|
NM_001081.4(CUBN):c.5080+9_5080+19del
|
|
|
NM_001081.4(CUBN):c.5132C>T (p.Ala1711Val)
|
|
|
NM_001081.4(CUBN):c.5143A>G (p.Arg1715Gly)
|
|
|
NM_001081.4(CUBN):c.5149G>T (p.Val1717Phe)
|
|
|
NM_001081.4(CUBN):c.5161A>G (p.Ser1721Gly)
|
|
|
NM_001081.4(CUBN):c.5169dup (p.Ala1724fs)
|
|
|
NM_001081.4(CUBN):c.5170G>A (p.Ala1724Thr)
|
|
|
NM_001081.4(CUBN):c.5173G>A (p.Gly1725Arg)
|
|
|
NM_001081.4(CUBN):c.517G>A (p.Glu173Lys)
|
|
|
NM_001081.4(CUBN):c.5191G>C (p.Val1731Leu)
|
|
|
NM_001081.4(CUBN):c.5197G>A (p.Ala1733Thr)
|
|
|
NM_001081.4(CUBN):c.5208G>A (p.Ser1736=)
|
|
|
NM_001081.4(CUBN):c.5209+1G>A
|
|
|
NM_001081.4(CUBN):c.5209+2T>C
|
|
|
NM_001081.4(CUBN):c.5215G>A (p.Gly1739Ser)
|
rs2131619882
|
|
NM_001081.4(CUBN):c.5222C>A (p.Thr1741Lys)
|
rs144943516
|
|
NM_001081.4(CUBN):c.5249A>G (p.Asn1750Ser)
|
|
|
NM_001081.4(CUBN):c.5285T>C (p.Val1762Ala)
|
|
|
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)
|
rs149164899
|
|
NM_001081.4(CUBN):c.5302A>G (p.Ile1768Val)
|
rs779378713
|
|
NM_001081.4(CUBN):c.5302_5304del (p.Ile1768del)
|
rs775161946
|
|
NM_001081.4(CUBN):c.5305G>A (p.Val1769Ile)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5305G>C (p.Val1769Leu)
|
rs74116778
|
|
NM_001081.4(CUBN):c.5307C>T (p.Val1769=)
|
|
|
NM_001081.4(CUBN):c.5312C>T (p.Ser1771Phe)
|
|
|
NM_001081.4(CUBN):c.5317G>T (p.Gly1773Cys)
|
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001081.4(CUBN):c.5324G>A (p.Arg1775Gln)
|
|
|
NM_001081.4(CUBN):c.5338T>C (p.Phe1780Leu)
|
|
|
NM_001081.4(CUBN):c.5342+20G>A
|
|
|
NM_001081.4(CUBN):c.5342+8delinsAG
|
|
|
NM_001081.4(CUBN):c.5343-10C>T
|
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-12del
|
|
|
NM_001081.4(CUBN):c.5343-6A>G
|
rs776579478
|
|
NM_001081.4(CUBN):c.5343-7dup
|
rs754346653
|
|
NM_001081.4(CUBN):c.5351A>G (p.Gln1784Arg)
|
|
|
NM_001081.4(CUBN):c.5395C>G (p.Arg1799Gly)
|
|
|
NM_001081.4(CUBN):c.5395C>T (p.Arg1799Cys)
|
|
|
NM_001081.4(CUBN):c.5411C>T (p.Thr1804Met)
|
|
|
NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
|
|
|
NM_001081.4(CUBN):c.5414dup (p.His1806fs)
|
|
|
NM_001081.4(CUBN):c.5434T>C (p.Cys1812Arg)
|
|
|
NM_001081.4(CUBN):c.5468T>C (p.Ile1823Thr)
|
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001081.4(CUBN):c.5521A>T (p.Thr1841Ser)
|
|
|
NM_001081.4(CUBN):c.5530C>T (p.Gln1844Ter)
|
rs1564435943
|
|
NM_001081.4(CUBN):c.5539T>C (p.Phe1847Leu)
|
|
|
NM_001081.4(CUBN):c.5549-1G>A
|
|
|
NM_001081.4(CUBN):c.5549-2A>C
|
rs1564435513
|
|
NM_001081.4(CUBN):c.5566A>T (p.Ile1856Phe)
|
|
|
NM_001081.4(CUBN):c.5569G>A (p.Val1857Met)
|
rs886046873
|
|
NM_001081.4(CUBN):c.5580T>A (p.His1860Gln)
|
rs980358703
|
|
NM_001081.4(CUBN):c.5590G>A (p.Ala1864Thr)
|
|
|
NM_001081.4(CUBN):c.5594C>T (p.Ser1865Phe)
|
|
|
NM_001081.4(CUBN):c.5597C>G (p.Pro1866Arg)
|
|
|
NM_001081.4(CUBN):c.5597C>T (p.Pro1866Leu)
|
rs376970710
|
|
NM_001081.4(CUBN):c.5600T>C (p.Phe1867Ser)
|
|
|
NM_001081.4(CUBN):c.5600del (p.Phe1867fs)
|
rs747417629
|
|
NM_001081.4(CUBN):c.5617C>T (p.Pro1873Ser)
|
|
|
NM_001081.4(CUBN):c.5621A>G (p.His1874Arg)
|
|
|
NM_001081.4(CUBN):c.5626T>G (p.Ser1876Ala)
|
|
|
NM_001081.4(CUBN):c.564_566delinsGAA (p.Thr189Lys)
|
|
|
NM_001081.4(CUBN):c.5665G>A (p.Val1889Ile)
|
|
|
NM_001081.4(CUBN):c.5672A>G (p.His1891Arg)
|
|
|
NM_001081.4(CUBN):c.5677A>G (p.Arg1893Gly)
|
|
|
NM_001081.4(CUBN):c.5698G>A (p.Glu1900Lys)
|
|
|
NM_001081.4(CUBN):c.5701G>T (p.Glu1901Ter)
|
|
|
NM_001081.4(CUBN):c.5717A>G (p.Tyr1906Cys)
|
|
|
NM_001081.4(CUBN):c.5733+15G>A
|
|
|
NM_001081.4(CUBN):c.5733+3G>A
|
|
|
NM_001081.4(CUBN):c.5733+9C>T
|
|
|
NM_001081.4(CUBN):c.5738A>G (p.Tyr1913Cys)
|
|
|
NM_001081.4(CUBN):c.5752A>G (p.Ile1918Val)
|
rs1842556433
|
|
NM_001081.4(CUBN):c.5762G>A (p.Arg1921His)
|
|
|
NM_001081.4(CUBN):c.5783G>T (p.Gly1928Val)
|
|
|
NM_001081.4(CUBN):c.5806_5807delinsAA (p.Ser1936Asn)
|
rs1554796668
|
|
NM_001081.4(CUBN):c.5810C>A (p.Thr1937Asn)
|
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.5846C>T (p.Ser1949Phe)
|
|
|
NM_001081.4(CUBN):c.5856del (p.Lys1954fs)
|
|
|
NM_001081.4(CUBN):c.5858G>C (p.Gly1953Ala)
|
|
|
NM_001081.4(CUBN):c.5860A>G (p.Lys1954Glu)
|
|
|
NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
|
|
|
NM_001081.4(CUBN):c.5875G>A (p.Glu1959Lys)
|
|
|
NM_001081.4(CUBN):c.5879G>A (p.Trp1960Ter)
|
|
|
NM_001081.4(CUBN):c.5879G>T (p.Trp1960Leu)
|
|
|
NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
|
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|
NM_001081.4(CUBN):c.5893G>A (p.Ala1965Thr)
|
|
|
NM_001081.4(CUBN):c.5903G>A (p.Gly1968Asp)
|
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|
NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
|
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|
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr)
|
rs2356590
|
|
NM_001081.4(CUBN):c.5911C>G (p.Pro1971Ala)
|
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001081.4(CUBN):c.591C>G (p.Tyr197Ter)
|
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|
NM_001081.4(CUBN):c.5926+13A>T
|
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|
NM_001081.4(CUBN):c.5927-14T>C
|
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NM_001081.4(CUBN):c.5927-19G>A
|
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|
NM_001081.4(CUBN):c.5927-1G>A
|
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|
NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
|
|
|
NM_001081.4(CUBN):c.594-16C>T
|
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|
NM_001081.4(CUBN):c.594-18C>T
|
rs1836875187
|
|
NM_001081.4(CUBN):c.5943C>A (p.Phe1981Leu)
|
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|
NM_001081.4(CUBN):c.5951C>T (p.Thr1984Met)
|
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NM_001081.4(CUBN):c.5961A>G (p.Ala1987=)
|
rs886046872
|
|
NM_001081.4(CUBN):c.5965G>A (p.Val1989Met)
|
rs368951850
|
|
NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
|
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|
NM_001081.4(CUBN):c.5979C>T (p.Ser1993=)
|
rs2131594919
|
|
NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
|
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|
NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
|
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|
NM_001081.4(CUBN):c.6011T>G (p.Val2004Gly)
|
|
|
NM_001081.4(CUBN):c.6016T>G (p.Cys2006Gly)
|
|
|
NM_001081.4(CUBN):c.6047C>T (p.Thr2016Ile)
|
|
|
NM_001081.4(CUBN):c.6049G>A (p.Val2017Met)
|
|
|
NM_001081.4(CUBN):c.6077T>C (p.Ile2026Thr)
|
rs2131594633
|
|
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=)
|
rs141470763
|
|
NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
|
|
|
NM_001081.4(CUBN):c.6118C>A (p.Arg2040=)
|
rs770636895
|
|
NM_001081.4(CUBN):c.6118C>T (p.Arg2040Ter)
|
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|
NM_001081.4(CUBN):c.6125-4G>A
|
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|
NM_001081.4(CUBN):c.6127G>A (p.Asp2043Asn)
|
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|
NM_001081.4(CUBN):c.6145C>A (p.Gln2049Lys)
|
rs141319759
|
|
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
|
|
|
NM_001081.4(CUBN):c.615G>T (p.Thr205=)
|
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|
NM_001081.4(CUBN):c.6178G>C (p.Gly2060Arg)
|
|
|
NM_001081.4(CUBN):c.6188G>A (p.Arg2063Gln)
|
|
|
NM_001081.4(CUBN):c.6198A>T (p.Gly2066=)
|
|
|
NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
|
|
|
NM_001081.4(CUBN):c.6211A>T (p.Ile2071Phe)
|
|
|
NM_001081.4(CUBN):c.6228C>G (p.Asp2076Glu)
|
|
|
NM_001081.4(CUBN):c.622C>T (p.Pro208Ser)
|
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
NM_001081.4(CUBN):c.6256G>A (p.Ala2086Thr)
|
|
|
NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
|
|
|
NM_001081.4(CUBN):c.626A>G (p.Gln209Arg)
|
|
|
NM_001081.4(CUBN):c.6271+12A>G
|
|
|
NM_001081.4(CUBN):c.6271A>T (p.Ser2091Cys)
|
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|
NM_001081.4(CUBN):c.6272-20C>G
|
|
|
NM_001081.4(CUBN):c.6272-7T>A
|
rs1333033381
|
|
NM_001081.4(CUBN):c.6272-8G>C
|
|
|
NM_001081.4(CUBN):c.6276C>A (p.Cys2092Ter)
|
|
|
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=)
|
rs146319349
|
|
NM_001081.4(CUBN):c.6297_6298insT (p.Arg2100Ter)
|
|
|
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
|
|
|
NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
|
|
|
NM_001081.4(CUBN):c.6331A>G (p.Thr2111Ala)
|
|
|
NM_001081.4(CUBN):c.6340T>C (p.Ser2114Pro)
|
|
|
NM_001081.4(CUBN):c.6363C>T (p.His2121=)
|
|
|
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
|
|
|
NM_001081.4(CUBN):c.6367C>G (p.Leu2123Val)
|
|
|
NM_001081.4(CUBN):c.6439T>C (p.Cys2147Arg)
|
|
|
NM_001081.4(CUBN):c.6444C>G (p.Asn2148Lys)
|
|
|
NM_001081.4(CUBN):c.645C>T (p.Asp215=)
|
|
|
NM_001081.4(CUBN):c.6462+7C>T
|
|
|
NM_001081.4(CUBN):c.6463-4C>G
|
rs2131581949
|
|
NM_001081.4(CUBN):c.6464T>C (p.Leu2155Pro)
|
rs2131581941
|
|
NM_001081.4(CUBN):c.6475C>T (p.Pro2159Ser)
|
|
|
NM_001081.4(CUBN):c.6482T>A (p.Ile2161Asn)
|
|
|
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
|
|
|
NM_001081.4(CUBN):c.6493C>T (p.Pro2165Ser)
|
|
|
NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
|
|
|
NM_001081.4(CUBN):c.6533G>T (p.Ser2178Ile)
|
|
|
NM_001081.4(CUBN):c.6538G>A (p.Ala2180Thr)
|
rs769495257
|
|
NM_001081.4(CUBN):c.6547A>G (p.Thr2183Ala)
|
|
|
NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=)
|
rs2131479100
|
|
NM_001081.4(CUBN):c.6640A>G (p.Ser2214Gly)
|
|
|
NM_001081.4(CUBN):c.6641G>A (p.Ser2214Asn)
|
|
|
NM_001081.4(CUBN):c.6646+18G>T
|
|
|
NM_001081.4(CUBN):c.6647-19T>C
|
|
|
NM_001081.4(CUBN):c.6647-5C>G
|
|
|
NM_001081.4(CUBN):c.6647C>A (p.Ala2216Asp)
|
|
|
NM_001081.4(CUBN):c.6676G>A (p.Ala2226Thr)
|
|
|
NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
|
|
|
NM_001081.4(CUBN):c.66T>C (p.Asn22=)
|
|
|
NM_001081.4(CUBN):c.6707A>G (p.Asn2236Ser)
|
|
|
NM_001081.4(CUBN):c.670C>T (p.Arg224Cys)
|
|
|
NM_001081.4(CUBN):c.6712C>A (p.Pro2238Thr)
|
|
|
NM_001081.4(CUBN):c.6716A>G (p.His2239Arg)
|
|
|
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)
|
rs386833790
|
|
NM_001081.4(CUBN):c.6749T>G (p.Ile2250Ser)
|
|
|
NM_001081.4(CUBN):c.6755C>T (p.Ala2252Val)
|
|
|
NM_001081.4(CUBN):c.6772C>T (p.Arg2258Cys)
|
|
|
NM_001081.4(CUBN):c.6784C>T (p.Gln2262Ter)
|
|
|
NM_001081.4(CUBN):c.6796C>G (p.Arg2266Gly)
|
|
|
NM_001081.4(CUBN):c.6797G>A (p.Arg2266Gln)
|
rs1437222146
|
|
NM_001081.4(CUBN):c.6822-1G>A
|
|
|
NM_001081.4(CUBN):c.6826A>G (p.Thr2276Ala)
|
|
|
NM_001081.4(CUBN):c.6830C>A (p.Ser2277Tyr)
|
|
|
NM_001081.4(CUBN):c.6833A>G (p.Asn2278Ser)
|
rs942411004
|
|
NM_001081.4(CUBN):c.6839T>A (p.Leu2280His)
|
|
|
NM_001081.4(CUBN):c.6848G>A (p.Arg2283Gln)
|
|
|
NM_001081.4(CUBN):c.6854G>C (p.Gly2285Ala)
|
|
|
NM_001081.4(CUBN):c.6856G>A (p.Val2286Met)
|
|
|
NM_001081.4(CUBN):c.685A>G (p.Ile229Val)
|
|
|
NM_001081.4(CUBN):c.6863C>T (p.Ser2288Leu)
|
|
|
NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
|
|
|
NM_001081.4(CUBN):c.6867_6868delinsGA (p.Asp2289_Ala2290delinsGluThr)
|
|
|
NM_001081.4(CUBN):c.6871C>T (p.Pro2291Ser)
|
|
|
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
|
|
|
NM_001081.4(CUBN):c.6905C>T (p.Pro2302Leu)
|
|
|
NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
|
|
|
NM_001081.4(CUBN):c.6910A>C (p.Ser2304Arg)
|
|
|
NM_001081.4(CUBN):c.6913C>T (p.Gln2305Ter)
|
|
|
NM_001081.4(CUBN):c.6926_6928delinsAA (p.Gly2309fs)
|
|
|
NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs)
|
rs757649673
|
|
NM_001081.4(CUBN):c.6949C>T (p.Arg2317Ter)
|
|
|
NM_001081.4(CUBN):c.6950G>A (p.Arg2317Gln)
|
|
|
NM_001081.4(CUBN):c.6961A>G (p.Ser2321Gly)
|
|
|
NM_001081.4(CUBN):c.6992A>G (p.Tyr2331Cys)
|
|
|
NM_001081.4(CUBN):c.69C>T (p.Gly23=)
|
|
|
NM_001081.4(CUBN):c.7000+7A>T
|
|
|
NM_001081.4(CUBN):c.7001-19T>C
|
|
|
NM_001081.4(CUBN):c.7001-1del
|
|
|
NM_001081.4(CUBN):c.7001-2A>T
|
rs2131458620
|
|
NM_001081.4(CUBN):c.7001-2del
|
rs756427983
|
|
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
|
|
|
NM_001081.4(CUBN):c.7007G>A (p.Cys2336Tyr)
|
rs1413359792
|
|
NM_001081.4(CUBN):c.7013del (p.Gly2338fs)
|
rs1588646655
|
|
NM_001081.4(CUBN):c.702G>T (p.Met234Ile)
|
|
|
NM_001081.4(CUBN):c.7037TTG[1] (p.Val2347del)
|
rs1279549461
|
|
NM_001081.4(CUBN):c.7049T>C (p.Ile2350Thr)
|
|
|
NM_001081.4(CUBN):c.704G>A (p.Arg235Gln)
|
|
|
NM_001081.4(CUBN):c.7051G>T (p.Gly2351Ter)
|
rs2131458386
|
|
NM_001081.4(CUBN):c.7060A>G (p.Thr2354Ala)
|
|
|
NM_001081.4(CUBN):c.7071C>A (p.Tyr2357Ter)
|
|
|
NM_001081.4(CUBN):c.7096C>A (p.His2366Asn)
|
rs1261134940
|
|
NM_001081.4(CUBN):c.7105G>A (p.Gly2369Arg)
|
|
|
NM_001081.4(CUBN):c.7119C>A (p.His2373Gln)
|
|
|
NM_001081.4(CUBN):c.7126A>G (p.Thr2376Ala)
|
rs2131458000
|
|
NM_001081.4(CUBN):c.7143del (p.Phe2382fs)
|
|
|
NM_001081.4(CUBN):c.7145_7146del (p.Asp2381_Phe2382insTer)
|
|
|
NM_001081.4(CUBN):c.7145_7174del (p.Phe2382_Lys2392delinsTer)
|
|
|
NM_001081.4(CUBN):c.7169G>A (p.Cys2390Tyr)
|
|
|
NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
|
|
|
NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
|
|
|
NM_001081.4(CUBN):c.7196A>T (p.Asp2399Val)
|
|
|
NM_001081.4(CUBN):c.720+20G>A
|
|
|
NM_001081.4(CUBN):c.720+8C>T
|
|
|
NM_001081.4(CUBN):c.722C>T (p.Pro241Leu)
|
|
|
NM_001081.4(CUBN):c.7251C>G (p.Asp2417Glu)
|
|
|
NM_001081.4(CUBN):c.725A>G (p.Lys242Arg)
|
|
|
NM_001081.4(CUBN):c.7291G>T (p.Val2431Phe)
|
|
|
NM_001081.4(CUBN):c.7316C>G (p.Ser2439Ter)
|
rs1564421451
|
|
NM_001081.4(CUBN):c.731G>A (p.Ser244Asn)
|
|
|
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr)
|
rs41301097
|
|
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg)
|
rs41301097
|
|
NM_001081.4(CUBN):c.7352-6C>T
|
|
|
NM_001081.4(CUBN):c.7364A>C (p.Asp2455Ala)
|
|
|
NM_001081.4(CUBN):c.7379T>C (p.Ile2460Thr)
|
|
|
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
|
|
|
NM_001081.4(CUBN):c.7397C>G (p.Pro2466Arg)
|
rs1184270888
|
|
NM_001081.4(CUBN):c.73G>A (p.Ala25Thr)
|
|
|
NM_001081.4(CUBN):c.7401del (p.Tyr2468fs)
|
|
|
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
|
rs202229367
|
|
NM_001081.4(CUBN):c.7426C>G (p.Arg2476Gly)
|
|
|
NM_001081.4(CUBN):c.7429A>G (p.Ile2477Val)
|
|
|
NM_001081.4(CUBN):c.7435G>A (p.Glu2479Lys)
|
|
|
NM_001081.4(CUBN):c.7435G>C (p.Glu2479Gln)
|
|
|
NM_001081.4(CUBN):c.7451C>A (p.Ala2484Asp)
|
|
|
NM_001081.4(CUBN):c.7454C>T (p.Pro2485Leu)
|
|
|
NM_001081.4(CUBN):c.7471dup (p.Thr2491fs)
|
|
|
NM_001081.4(CUBN):c.7504_7509dup (p.Pro2503_Ser2504insHisPro)
|
|
|
NM_001081.4(CUBN):c.7508C>A (p.Pro2503Gln)
|
|
|
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=)
|
rs201001705
|
|
NM_001081.4(CUBN):c.750G>A (p.Gly250=)
|
|
|
NM_001081.4(CUBN):c.7522G>A (p.Glu2508Lys)
|
|
|
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
|
|
|
NM_001081.4(CUBN):c.7533+16C>T
|
|
|
NM_001081.4(CUBN):c.7534-1G>T
|
rs1588639188
|
|
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=)
|
rs1588639145
|
|
NM_001081.4(CUBN):c.7559C>T (p.Ser2520Leu)
|
rs2131438965
|
|
NM_001081.4(CUBN):c.7582A>G (p.Ser2528Gly)
|
rs1047710609
|
|
NM_001081.4(CUBN):c.7586G>A (p.Ser2529Asn)
|
rs886046868
|
|
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
|
|
|
NM_001081.4(CUBN):c.7602T>A (p.Asn2534Lys)
|
|
|
NM_001081.4(CUBN):c.7612T>C (p.Ser2538Pro)
|
|
|
NM_001081.4(CUBN):c.7637T>G (p.Ile2546Ser)
|
|
|
NM_001081.4(CUBN):c.7667G>A (p.Gly2556Asp)
|
|
|
NM_001081.4(CUBN):c.7705+9G>A
|
|
|
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
|
|
|
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
|
|
|
NM_001081.4(CUBN):c.7794C>A (p.Asn2598Lys)
|
|
|
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp)
|
rs138758085
|
|
NM_001081.4(CUBN):c.7798G>A (p.Glu2600Lys)
|
rs766806038
|
|
NM_001081.4(CUBN):c.7816C>A (p.Pro2606Thr)
|
rs886046867
|
|
NM_001081.4(CUBN):c.781A>G (p.Thr261Ala)
|
|
|
NM_001081.4(CUBN):c.783G>A (p.Thr261=)
|
rs770878354
|
|
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
|
|
|
NM_001081.4(CUBN):c.7861dup (p.Tyr2621fs)
|
rs1564415858
|
|
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
|
|
|
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
|
|
|
NM_001081.4(CUBN):c.7885C>A (p.Gln2629Lys)
|
|
|
NM_001081.4(CUBN):c.7912+14A>G
|
|
|
NM_001081.4(CUBN):c.7916A>T (p.Asp2639Val)
|
rs2131430542
|
|
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
|
|
|
NM_001081.4(CUBN):c.793_794dup (p.Asp265fs)
|
|
|
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
|
|
|
NM_001081.4(CUBN):c.794dup (p.Asp265fs)
|
|
|
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter)
|
rs1554790861
|
|
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr)
|
rs2131430377
|
|
NM_001081.4(CUBN):c.796G>T (p.Glu266Ter)
|
rs1161400848
|
|
NM_001081.4(CUBN):c.797A>G (p.Glu266Gly)
|
rs2131312260
|
|
NM_001081.4(CUBN):c.7997_8003delinsAACCTTTGTTATACCTTTGTCACCAACGAACGTGTCAT (p.Trp2666_His2668delinsTer)
|
|
|
NM_001081.4(CUBN):c.8003A>G (p.His2668Arg)
|
|
|
NM_001081.4(CUBN):c.8016C>A (p.Asn2672Lys)
|
|
|
NM_001081.4(CUBN):c.8018A>C (p.Glu2673Ala)
|
|
|
NM_001081.4(CUBN):c.8020C>T (p.Arg2674Cys)
|
|
|
NM_001081.4(CUBN):c.8049G>T (p.Lys2683Asn)
|
|
|
NM_001081.4(CUBN):c.8049del (p.Lys2683fs)
|
|
|
NM_001081.4(CUBN):c.8061A>G (p.Thr2687=)
|
|
|
NM_001081.4(CUBN):c.8062+15T>C
|
|
|
NM_001081.4(CUBN):c.8062+3A>G
|
|
|
NM_001081.4(CUBN):c.8062+8T>C
|
|
|
NM_001081.4(CUBN):c.8063-1G>A
|
|
|
NM_001081.4(CUBN):c.8063-6T>G
|
|
|
NM_001081.4(CUBN):c.8081T>C (p.Ile2694Thr)
|
|
|
NM_001081.4(CUBN):c.8114_8115delinsTATGACACAAGCC (p.Tyr2705delinsLeuTer)
|
|
|
NM_001081.4(CUBN):c.8126_8127del (p.Ala2708_Tyr2709insTer)
|
|
|
NM_001081.4(CUBN):c.8129A>G (p.Asp2710Gly)
|
|
|
NM_001081.4(CUBN):c.8134C>G (p.Leu2712Val)
|
|
|
NM_001081.4(CUBN):c.8161G>A (p.Ala2721Thr)
|
|
|
NM_001081.4(CUBN):c.8161G>T (p.Ala2721Ser)
|
|
|
NM_001081.4(CUBN):c.8165del (p.Pro2722fs)
|
|
|
NM_001081.4(CUBN):c.8177C>T (p.Thr2726Ile)
|
|
|
NM_001081.4(CUBN):c.8185-10T>C
|
|
|
NM_001081.4(CUBN):c.8207T>C (p.Ile2736Thr)
|
|
|
NM_001081.4(CUBN):c.8219C>A (p.Thr2740Lys)
|
rs2131420801
|
|
NM_001081.4(CUBN):c.8222C>T (p.Thr2741Ile)
|
|
|
NM_001081.4(CUBN):c.8231G>C (p.Trp2744Ser)
|
rs983265041
|
|
NM_001081.4(CUBN):c.8233G>A (p.Asp2745Asn)
|
rs886046865
|
|
NM_001081.4(CUBN):c.8273C>T (p.Pro2758Leu)
|
rs2131420669
|
|
NM_001081.4(CUBN):c.8278A>G (p.Ile2760Val)
|
rs749282139
|
|
NM_001081.4(CUBN):c.8279T>C (p.Ile2760Thr)
|
|
|
NM_001081.4(CUBN):c.827C>T (p.Thr276Ile)
|
rs886046881
|
|
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
|
|
|
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
|
|
|
NM_001081.4(CUBN):c.8290T>C (p.Cys2764Arg)
|
|
|
NM_001081.4(CUBN):c.8341G>A (p.Val2781Met)
|
|
|
NM_001081.4(CUBN):c.8354C>A (p.Ser2785Ter)
|
|
|
NM_001081.4(CUBN):c.836A>G (p.Gln279Arg)
|
|
|
NM_001081.4(CUBN):c.8389A>G (p.Thr2797Ala)
|
|
|
NM_001081.4(CUBN):c.8390C>T (p.Thr2797Met)
|
|
|
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter)
|
rs1841332247
|
|
NM_001081.4(CUBN):c.8410+16G>T
|
|
|
NM_001081.4(CUBN):c.8411-3C>T
|
|
|
NM_001081.4(CUBN):c.8417G>A (p.Gly2806Asp)
|
rs2131417467
|
|
NM_001081.4(CUBN):c.8437A>G (p.Asn2813Asp)
|
|
|
NM_001081.4(CUBN):c.8440G>C (p.Gly2814Arg)
|
|
|
NM_001081.4(CUBN):c.8441G>A (p.Gly2814Asp)
|
|
|
NM_001081.4(CUBN):c.8446A>G (p.Ile2816Val)
|
|
|
NM_001081.4(CUBN):c.845A>G (p.Asn282Ser)
|
|
|
NM_001081.4(CUBN):c.8493T>A (p.Cys2831Ter)
|
|
|
NM_001081.4(CUBN):c.8526C>G (p.His2842Gln)
|
|
|
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
|
|
|
NM_001081.4(CUBN):c.8533A>T (p.Ile2845Phe)
|
|
|
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
|
|
|
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
|
|
|
NM_001081.4(CUBN):c.8578T>C (p.Cys2860Arg)
|
|
|
NM_001081.4(CUBN):c.8578T>G (p.Cys2860Gly)
|
rs138719573
|
|
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
|
|
|
NM_001081.4(CUBN):c.8598+18T>C
|
rs1841276791
|
|
NM_001081.4(CUBN):c.8598+1G>T
|
|
|
NM_001081.4(CUBN):c.8599-18T>C
|
|
|
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu)
|
rs1588623316
|
|
NM_001081.4(CUBN):c.8600T>A (p.Val2867Glu)
|
rs2131400339
|
|
NM_001081.4(CUBN):c.8618A>C (p.Glu2873Ala)
|
|
|
NM_001081.4(CUBN):c.8622G>A (p.Val2874=)
|
|
|
NM_001081.4(CUBN):c.8635C>G (p.Leu2879Val)
|
rs1801238
|
|
NM_001081.4(CUBN):c.8639C>T (p.Ala2880Val)
|
|
|
NM_001081.4(CUBN):c.8641A>G (p.Thr2881Ala)
|
|
|
NM_001081.4(CUBN):c.8648G>A (p.Cys2883Tyr)
|
|
|
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
|
|
|
NM_001081.4(CUBN):c.8666G>A (p.Gly2889Asp)
|
|
|
NM_001081.4(CUBN):c.8684_8687del (p.Ser2895fs)
|
rs2131400036
|
|
NM_001081.4(CUBN):c.8690_8691del (p.Thr2897fs)
|
|
|
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
|
|
|
NM_001081.4(CUBN):c.8691_8693delinsTTA (p.Phe2898Tyr)
|
|
|
NM_001081.4(CUBN):c.8707C>T (p.Gln2903Ter)
|
|
|
NM_001081.4(CUBN):c.8709G>T (p.Gln2903His)
|
|
|
NM_001081.4(CUBN):c.8711C>G (p.Ser2904Cys)
|
|
|
NM_001081.4(CUBN):c.8711C>T (p.Ser2904Phe)
|
rs1588623068
|
|
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
|
|
|
NM_001081.4(CUBN):c.8719G>A (p.Ala2907Thr)
|
|
|
NM_001081.4(CUBN):c.8726C>T (p.Ala2909Val)
|
|
|
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
|
|
|
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
|
|
|
NM_001081.4(CUBN):c.8755+2T>C
|
|
|
NM_001081.4(CUBN):c.8756-18C>A
|
|
|
NM_001081.4(CUBN):c.8756-2A>G
|
|
|
NM_001081.4(CUBN):c.8785_8802dup (p.Pro2934_Asn2935insGlyTyrIleIleSerPro)
|
|
|
NM_001081.4(CUBN):c.8790_8791del (p.Ile2931fs)
|
|
|
NM_001081.4(CUBN):c.8794A>T (p.Ile2932Phe)
|
rs2131396329
|
|
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
|
|
|
NM_001081.4(CUBN):c.8800C>T (p.Pro2934Ser)
|
|
|
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
|
|
|
NM_001081.4(CUBN):c.883+5A>G
|
|
|
NM_001081.4(CUBN):c.8831T>G (p.Met2944Arg)
|
rs544783535
|
|
NM_001081.4(CUBN):c.884-1G>A
|
|
|
NM_001081.4(CUBN):c.884-8T>C
|
|
|
NM_001081.4(CUBN):c.8851G>A (p.Glu2951Lys)
|
|
|
NM_001081.4(CUBN):c.8858A>G (p.Asn2953Ser)
|
|
|
NM_001081.4(CUBN):c.8860C>G (p.Pro2954Ala)
|
|
|
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)
|
rs386833791
|
|
NM_001081.4(CUBN):c.8906-13dup
|
|
|
NM_001081.4(CUBN):c.8906-9C>T
|
|
|
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
|
|
|
NM_001081.4(CUBN):c.8914G>A (p.Ala2972Thr)
|
|
|
NM_001081.4(CUBN):c.8923G>A (p.Gly2975Arg)
|
|
|
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
|
|
|
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
|
|
|
NM_001081.4(CUBN):c.8953A>T (p.Ile2985Phe)
|
|
|
NM_001081.4(CUBN):c.8954T>C (p.Ile2985Thr)
|
|
|
NM_001081.4(CUBN):c.8958A>C (p.Arg2986Ser)
|
|
|
NM_001081.4(CUBN):c.8967C>A (p.Ser2989Arg)
|
rs560485793
|
|
NM_001081.4(CUBN):c.8977A>G (p.Thr2993Ala)
|
rs1408193576
|
|
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)
|
|
|
NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr)
|
rs756775921
|
|
NM_001081.4(CUBN):c.9028G>T (p.Ala3010Ser)
|
rs756775921
|
|
NM_001081.4(CUBN):c.9029C>G (p.Ala3010Gly)
|
|
|
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
|
|
|
NM_001081.4(CUBN):c.9078C>A (p.Phe3026Leu)
|
rs140524729
|
|
NM_001081.4(CUBN):c.909C>T (p.Cys303=)
|
|
|
NM_001081.4(CUBN):c.9103A>G (p.Ile3035Val)
|
|
|
NM_001081.4(CUBN):c.9110GTG[2] (p.Gly3039del)
|
|
|
NM_001081.4(CUBN):c.9113G>A (p.Gly3038Asp)
|
|
|
NM_001081.4(CUBN):c.9154G>A (p.Ala3052Thr)
|
|
|
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
|
|
|
NM_001081.4(CUBN):c.9166G>T (p.Ala3056Ser)
|
rs569915247
|
|
NM_001081.4(CUBN):c.9181G>T (p.Asp3061Tyr)
|
|
|
NM_001081.4(CUBN):c.9185T>C (p.Met3062Thr)
|
|
|
NM_001081.4(CUBN):c.9197A>G (p.Tyr3066Cys)
|
|
|
NM_001081.4(CUBN):c.9207C>A (p.Thr3069=)
|
rs117936668
|
|
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=)
|
rs117936668
|
|
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
|
|
|
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
|
|
|
NM_001081.4(CUBN):c.9236+5G>C
|
|
|
NM_001081.4(CUBN):c.9237-1G>C
|
|
|
NM_001081.4(CUBN):c.9237-6T>A
|
|
|
NM_001081.4(CUBN):c.923A>C (p.Glu308Ala)
|
rs886046880
|
|
NM_001081.4(CUBN):c.9247T>C (p.Phe3083Leu)
|
|
|
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
|
|
|
NM_001081.4(CUBN):c.9266C>A (p.Thr3089Asn)
|
|
|
NM_001081.4(CUBN):c.9266C>T (p.Thr3089Ile)
|
|
|
NM_001081.4(CUBN):c.9286_9287del (p.Leu3096fs)
|
|
|
NM_001081.4(CUBN):c.9287T>C (p.Leu3096Pro)
|
|
|
NM_001081.4(CUBN):c.929A>C (p.Glu310Ala)
|
|
|
NM_001081.4(CUBN):c.9310A>G (p.Thr3104Ala)
|
|
|
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
|
|
|
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
|
|
|
NM_001081.4(CUBN):c.9350G>A (p.Arg3117His)
|
|
|
NM_001081.4(CUBN):c.9397A>C (p.Lys3133Gln)
|
rs1432636083
|
|
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=)
|
rs2131367704
|
|
NM_001081.4(CUBN):c.9425G>A (p.Gly3142Asp)
|
|
|
NM_001081.4(CUBN):c.9435G>A (p.Met3145Ile)
|
|
|
NM_001081.4(CUBN):c.9443G>A (p.Arg3148Gln)
|
|
|
NM_001081.4(CUBN):c.9445C>T (p.Gln3149Ter)
|
|
|
NM_001081.4(CUBN):c.9454+19T>G
|
|
|
NM_001081.4(CUBN):c.9454+1G>A
|
|
|
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
|
|
|
NM_001081.4(CUBN):c.9461A>G (p.Gln3154Arg)
|
|
|
NM_001081.4(CUBN):c.9491C>T (p.Ser3164Leu)
|
|
|
NM_001081.4(CUBN):c.94A>G (p.Arg32Gly)
|
|
|
NM_001081.4(CUBN):c.9518C>G (p.Ser3173Cys)
|
|
|
NM_001081.4(CUBN):c.9535T>A (p.Tyr3179Asn)
|
|
|
NM_001081.4(CUBN):c.9538G>A (p.Asp3180Asn)
|
|
|
NM_001081.4(CUBN):c.9553del (p.Cys3185fs)
|
|
|
NM_001081.4(CUBN):c.9556_9557del (p.Val3186fs)
|
|
|
NM_001081.4(CUBN):c.9561G>T (p.Trp3187Cys)
|
|
|
NM_001081.4(CUBN):c.9586G>A (p.Val3196Ile)
|
|
|
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
|
|
|
NM_001081.4(CUBN):c.9605A>C (p.Asn3202Thr)
|
|
|
NM_001081.4(CUBN):c.9612del (p.Phe3204fs)
|
|
|
NM_001081.4(CUBN):c.9613G>A (p.Ala3205Thr)
|
|
|
NM_001081.4(CUBN):c.961C>T (p.Pro321Ser)
|
|
|
NM_001081.4(CUBN):c.9622G>A (p.Ala3208Thr)
|
|
|
NM_001081.4(CUBN):c.962C>T (p.Pro321Leu)
|
|
|
NM_001081.4(CUBN):c.964G>A (p.Val322Ile)
|
|
|
NM_001081.4(CUBN):c.9653A>T (p.Asp3218Val)
|
|
|
NM_001081.4(CUBN):c.9663+13T>C
|
|
|
NM_001081.4(CUBN):c.9663+7C>T
|
|
|
NM_001081.4(CUBN):c.9664-16T>G
|
rs2131320788
|
|
NM_001081.4(CUBN):c.9664-20T>C
|
|
|
NM_001081.4(CUBN):c.9664-2A>C
|
|
|
NM_001081.4(CUBN):c.9664-8del
|
|
|
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
|
|
|
NM_001081.4(CUBN):c.9667T>C (p.Tyr3223His)
|
|
|
NM_001081.4(CUBN):c.9673G>A (p.Gly3225Arg)
|
|
|
NM_001081.4(CUBN):c.9689C>T (p.Ala3230Val)
|
|
|
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
|
|
|
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
|
|
|
NM_001081.4(CUBN):c.9721G>A (p.Val3241Ile)
|
|
|
NM_001081.4(CUBN):c.9724C>T (p.Pro3242Ser)
|
|
|
NM_001081.4(CUBN):c.9727G>A (p.Ala3243Thr)
|
|
|
NM_001081.4(CUBN):c.9742T>A (p.Ser3248Thr)
|
|
|
NM_001081.4(CUBN):c.9751T>G (p.Phe3251Val)
|
|
|
NM_001081.4(CUBN):c.976A>C (p.Asn326His)
|
|
|
NM_001081.4(CUBN):c.9783del (p.Thr3261_Leu3262insTer)
|
|
|
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
|
|
|
NM_001081.4(CUBN):c.9806C>T (p.Ala3269Val)
|
|
|
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
|
|
|
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
|
|
|
NM_001081.4(CUBN):c.9826+13A>G
|
|
|
NM_001081.4(CUBN):c.9826+3G>A
|
|
|
NM_001081.4(CUBN):c.9827-20G>A
|
|
|
NM_001081.4(CUBN):c.9828G>A (p.Met3276Ile)
|
|
|
NM_001081.4(CUBN):c.9830C>T (p.Pro3277Leu)
|
|
|
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
|
|
|
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
|
|
|
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
|
|
|
NM_001081.4(CUBN):c.9896C>A (p.Pro3299Gln)
|
|
|
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
|
|
|
NM_001081.4(CUBN):c.9907T>C (p.Phe3303Leu)
|
|
|
NM_001081.4(CUBN):c.9941C>T (p.Pro3314Leu)
|
|
|
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=)
|
rs375963302
|
|
NM_001081.4(CUBN):c.9942G>T (p.Pro3314=)
|
|
|
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)
|
rs1564379463
|
|
NM_001081.4(CUBN):c.9950A>G (p.Gln3317Arg)
|
|
|
NM_001081.4(CUBN):c.9990A>C (p.Gln3330His)
|
rs1839305562
|
|
NM_001081.4(CUBN):c.9998C>T (p.Thr3333Met)
|
|
|
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
|
|
|
NM_001330540.2(MMACHC):c.-90del
|
|
|
NM_002454.3(MTRR):c.-26+755C>A
|
rs326119
|
|
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
|
|
|
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
|
|
|
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
|
|
|
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
|
|
|
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
|
|
|
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
|
|
|
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
|
|
|
NM_002454.3(MTRR):c.1041A>C (p.Ala347=)
|
rs1331838959
|
|
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
|
|
|
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs)
|
rs2126745614
|
|
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs)
|
rs2126745648
|
|
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
|
|
|
NM_002454.3(MTRR):c.1057+12G>A
|
|
|
NM_002454.3(MTRR):c.1057+17T>C
|
|
|
NM_002454.3(MTRR):c.1057+8C>G
|
rs1325906968
|
|
NM_002454.3(MTRR):c.1057+8C>T
|
|
|
NM_002454.3(MTRR):c.1057+9_1057+16del
|
|
|
NM_002454.3(MTRR):c.1058-5A>C
|
rs2126751043
|
|
NM_002454.3(MTRR):c.1058-8del
|
rs1736476987
|
|
NM_002454.3(MTRR):c.1058-9C>T
|
rs1736476286
|
|
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
|
|
|
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
|
|
|
NM_002454.3(MTRR):c.1066T>C (p.Leu356=)
|
rs2126751152
|
|
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
|
|
|
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu)
|
rs2126751184
|
|
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
|
|
|
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg)
|
rs776598893
|
|
NM_002454.3(MTRR):c.1074G>A (p.Gln358=)
|
rs1561229685
|
|
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr)
|
rs1405292334
|
|
NM_002454.3(MTRR):c.1077T>C (p.His359=)
|
|
|
NM_002454.3(MTRR):c.1083T>C (p.Pro361=)
|
rs1405600544
|
|
NM_002454.3(MTRR):c.1089A>G (p.Gly363=)
|
rs1561230017
|
|
NM_002454.3(MTRR):c.108C>T (p.His36=)
|
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
NM_002454.3(MTRR):c.109dup (p.Cys37fs)
|
rs1747853230
|
|
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
|
|
|
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter)
|
rs772547714
|
|
NM_002454.3(MTRR):c.1125A>G (p.Glu375=)
|
rs1425446891
|
|
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
|
|
|
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
|
|
|
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
|
|
|
NM_002454.3(MTRR):c.1146+10del
|
rs750264866
|
|
NM_002454.3(MTRR):c.1146+10dup
|
rs750264866
|
|
NM_002454.3(MTRR):c.1146+13G>T
|
|
|
NM_002454.3(MTRR):c.1146+19T>G
|
|
|
NM_002454.3(MTRR):c.1146+1G>C
|
rs772608494
|
|
NM_002454.3(MTRR):c.1146+3A>G
|
|
|
NM_002454.3(MTRR):c.1147-11C>G
|
rs1015760904
|
|
NM_002454.3(MTRR):c.1147-14G>A
|
rs9282791
|
|
NM_002454.3(MTRR):c.1147-14G>T
|
|
|
NM_002454.3(MTRR):c.1147-15G>T
|
|
|
NM_002454.3(MTRR):c.1147-17C>T
|
|
|
NM_002454.3(MTRR):c.1147-1G>A
|
|
|
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter)
|
rs1737110583
|
|
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs)
|
rs1561245416
|
|
NM_002454.3(MTRR):c.1164del (p.Val389fs)
|
|
|
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
|
|
|
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
|
|
|
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs)
|
rs1579758005
|
|
NM_002454.3(MTRR):c.118G>T (p.Glu40Ter)
|
|
|
NM_002454.3(MTRR):c.1203A>G (p.Leu401=)
|
rs200661044
|
|
NM_002454.3(MTRR):c.1209G>A (p.Glu403=)
|
rs1324764527
|
|
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
|
|
|
NM_002454.3(MTRR):c.1212G>T (p.Leu404=)
|
rs2126771253
|
|
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
|
|
|
NM_002454.3(MTRR):c.1221A>G (p.Lys407=)
|
rs2126771342
|
|
NM_002454.3(MTRR):c.1230A>C (p.Ala410=)
|
rs2126771427
|
|
NM_002454.3(MTRR):c.1233C>G (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1233C>T (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1248T>C (p.Phe416=)
|
rs886060807
|
|
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
|
|
|
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
|
|
|
NM_002454.3(MTRR):c.1260C>G (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1260C>T (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
|
|
|
NM_002454.3(MTRR):c.1279CTC[2] (p.Leu429del)
|
|
|
NM_002454.3(MTRR):c.129+10G>C
|
rs6413427
|
|
NM_002454.3(MTRR):c.129+11T>C
|
|
|
NM_002454.3(MTRR):c.129+12T>C
|
|
|
NM_002454.3(MTRR):c.129+13A>T
|
|
|
NM_002454.3(MTRR):c.129+14C>G
|
|
|
NM_002454.3(MTRR):c.129+15A>G
|
|
|
NM_002454.3(MTRR):c.129+20A>C
|
|
|
NM_002454.3(MTRR):c.129+7G>A
|
|
|
NM_002454.3(MTRR):c.129+9C>T
|
rs527869420
|
|
NM_002454.3(MTRR):c.1290T>C (p.Ala430=)
|
rs2126772061
|
|
NM_002454.3(MTRR):c.1293C>T (p.Phe431=)
|
rs766885971
|
|
NM_002454.3(MTRR):c.130-14T>C
|
|
|
NM_002454.3(MTRR):c.130-17A>T
|
|
|
NM_002454.3(MTRR):c.130-18G>A
|
|
|
NM_002454.3(MTRR):c.130-1G>A
|
|
|
NM_002454.3(MTRR):c.130-20T>G
|
|
|
NM_002454.3(MTRR):c.130-4G>A
|
rs201823283
|
|
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
|
|
|
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs)
|
rs2126772123
|
|
NM_002454.3(MTRR):c.1327+10C>G
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+10C>T
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+11G>A
|
|
|
NM_002454.3(MTRR):c.1327+19A>G
|
|
|
NM_002454.3(MTRR):c.1327+1G>A
|
|
|
NM_002454.3(MTRR):c.1327+20A>G
|
|
|
NM_002454.3(MTRR):c.1327+8G>A
|
|
|
NM_002454.3(MTRR):c.1328-12A>G
|
|
|
NM_002454.3(MTRR):c.1328-13T>A
|
|
|
NM_002454.3(MTRR):c.1328-13T>C
|
|
|
NM_002454.3(MTRR):c.1328-4C>G
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-4C>T
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-6T>G
|
|
|
NM_002454.3(MTRR):c.1328-7_1328-5del
|
rs779772153
|
|
NM_002454.3(MTRR):c.1328-8T>C
|
|
|
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
|
|
|
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
|
|
|
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
|
|
|
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter)
|
rs1440404360
|
|
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
|
|
|
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
|
|
|
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
|
|
|
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)
|
rs764469824
|
|
NM_002454.3(MTRR):c.1368A>G (p.Ala456=)
|
rs2126785758
|
|
NM_002454.3(MTRR):c.1370+12T>C
|
|
|
NM_002454.3(MTRR):c.1370+12del
|
rs1444115346
|
|
NM_002454.3(MTRR):c.1370+20T>A
|
|
|
NM_002454.3(MTRR):c.1370+2TAC[3]
|
|
|
NM_002454.3(MTRR):c.1370+9A>G
|
rs2126785823
|
|
NM_002454.3(MTRR):c.1370+9del
|
|
|
NM_002454.3(MTRR):c.1371-11dup
|
|
|
NM_002454.3(MTRR):c.1371-17T>C
|
|
|
NM_002454.3(MTRR):c.1371-18G>A
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
NM_002454.3(MTRR):c.1371-4G>T
|
rs2126793044
|
|
NM_002454.3(MTRR):c.1371-8C>G
|
rs2126793017
|
|
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
|
|
|
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter)
|
rs1554006017
|
|
NM_002454.3(MTRR):c.1386C>T (p.His462=)
|
|
|
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
|
|
|
NM_002454.3(MTRR):c.1395G>A (p.Lys465=)
|
rs2126793201
|
|
NM_002454.3(MTRR):c.1401T>G (p.His467Gln)
|
rs1737824362
|
|
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
|
|
|
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
|
|
|
NM_002454.3(MTRR):c.1425T>C (p.Phe475=)
|
rs1737829430
|
|
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
|
|
|
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys)
|
rs1737830740
|
|
NM_002454.3(MTRR):c.1431T>G (p.Ser477=)
|
rs896702427
|
|
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
|
|
|
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
|
|
|
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp)
|
rs2126793498
|
|
NM_002454.3(MTRR):c.1452G>A (p.Leu484=)
|
rs2126793535
|
|
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
|
|
|
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
|
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1459G>C (p.Gly487Arg)
|
|
|
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
|
|
|
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
|
|
|
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
|
|
|
NM_002454.3(MTRR):c.1476del (p.Trp492fs)
|
rs2126793645
|
|
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
|
|
|
NM_002454.3(MTRR):c.1482C>T (p.Ala494=)
|
rs1579792709
|
|
NM_002454.3(MTRR):c.1488G>A (p.Leu496=)
|
rs1158860588
|
|
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)
|
rs1737849237
|
|
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr)
|
rs1737849963
|
|
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
|
|
|
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
|
|
|
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg)
|
rs2126793764
|
|
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter)
|
rs1737852706
|
|
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
|
|
|
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
|
|
|
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
|
|
|
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
|
|
|
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
|
|
|
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
|
|
|
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
|
|
|
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
|
|
|
NM_002454.3(MTRR):c.1554T>C (p.Pro518=)
|
rs2126794116
|
|
NM_002454.3(MTRR):c.1557+10T>C
|
rs1414777712
|
|
NM_002454.3(MTRR):c.1557+16C>T
|
|
|
NM_002454.3(MTRR):c.1558-12G>A
|
|
|
NM_002454.3(MTRR):c.1558-13T>C
|
|
|
NM_002454.3(MTRR):c.1558-14A>G
|
|
|
NM_002454.3(MTRR):c.1558-15del
|
|
|
NM_002454.3(MTRR):c.1558-17T>C
|
|
|
NM_002454.3(MTRR):c.1558-6T>C
|
|
|
NM_002454.3(MTRR):c.1558-8T>C
|
rs2126807577
|
|
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
|
|
|
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
|
|
|
NM_002454.3(MTRR):c.1566C>A (p.Ile522=)
|
rs1579815027
|
|
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
|
|
|
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
|
|
|
NM_002454.3(MTRR):c.1590C>T (p.Phe530=)
|
rs2126807805
|
|
NM_002454.3(MTRR):c.1594T>C (p.Leu532=)
|
rs2126807843
|
|
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
|
|
|
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
|
|
|
NM_002454.3(MTRR):c.1599A>G (p.Pro533=)
|
rs2126807880
|
|
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
|
|
|
NM_002454.3(MTRR):c.15G>A (p.Leu5=)
|
rs2126643854
|
|
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
|
|
|
NM_002454.3(MTRR):c.1612dup (p.Ile538fs)
|
rs757800887
|
|
NM_002454.3(MTRR):c.1614C>T (p.Ile538=)
|
rs2126807956
|
|
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
|
|
|
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
|
|
|
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val)
|
rs752471011
|
|
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter)
|
rs2126808021
|
|
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
|
|
|
NM_002454.3(MTRR):c.162T>C (p.Val54=)
|
rs2126662749
|
|
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
|
|
|
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
|
|
|
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser)
|
rs1738413262
|
|
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
|
|
|
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
|
|
|
NM_002454.3(MTRR):c.1650C>T (p.Ala550=)
|
rs2126808168
|
|
NM_002454.3(MTRR):c.1652dup (p.Phe552fs)
|
rs2126808162
|
|
NM_002454.3(MTRR):c.165T>C (p.Val55=)
|
|
|
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
|
|
|
NM_002454.3(MTRR):c.1674T>C (p.His558=)
|
|
|
NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)
|
|
|
NM_002454.3(MTRR):c.1676+15dup
|
|
|
NM_002454.3(MTRR):c.1676+2T>C
|
|
|
NM_002454.3(MTRR):c.1676+7T>G
|
|
|
NM_002454.3(MTRR):c.1676+8C>T
|
|
|
NM_002454.3(MTRR):c.1677-11T>C
|
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
NM_002454.3(MTRR):c.1677-20C>T
|
|
|
NM_002454.3(MTRR):c.1677-4T>C
|
|
|
NM_002454.3(MTRR):c.1677-7dup
|
|
|
NM_002454.3(MTRR):c.1677-9del
|
rs746262908
|
|
NM_002454.3(MTRR):c.1677-9dup
|
rs746262908
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
NM_002454.3(MTRR):c.1680G>A (p.Glu560=)
|
rs2126812708
|
|
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
|
|
|
NM_002454.3(MTRR):c.1686C>T (p.Leu562=)
|
rs909879819
|
|
NM_002454.3(MTRR):c.1698C>T (p.His566=)
|
rs2126812807
|
|
NM_002454.3(MTRR):c.16T>C (p.Leu6=)
|
rs2126643873
|
|
NM_002454.3(MTRR):c.1704T>C (p.Asp568=)
|
rs2126812841
|
|
NM_002454.3(MTRR):c.1716A>C (p.Gly572=)
|
rs755255468
|
|
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)
|
rs1738616151
|
|
NM_002454.3(MTRR):c.171T>A (p.Val57=)
|
rs2126662820
|
|
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu)
|
rs781416288
|
|
NM_002454.3(MTRR):c.1725G>A (p.Trp575Ter)
|
|
|
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del)
|
rs2126812944
|
|
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
|
|
|
NM_002454.3(MTRR):c.1728del (p.Leu576fs)
|
rs2126812977
|
|
NM_002454.3(MTRR):c.1741A>C (p.Arg581=)
|
rs1738621244
|
|
NM_002454.3(MTRR):c.1749G>A (p.Lys583=)
|
rs1261248965
|
|
NM_002454.3(MTRR):c.1764A>C (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1764A>T (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
|
|
|
NM_002454.3(MTRR):c.1769+10A>T
|
rs1738630744
|
|
NM_002454.3(MTRR):c.1769+11A>G
|
|
|
NM_002454.3(MTRR):c.1769+15C>G
|
|
|
NM_002454.3(MTRR):c.1769+6G>A
|
|
|
NM_002454.3(MTRR):c.1769+9C>G
|
|
|
NM_002454.3(MTRR):c.1770-12A>G
|
|
|
NM_002454.3(MTRR):c.1770-14A>G
|
|
|
NM_002454.3(MTRR):c.1770-7A>G
|
rs2126813814
|
|
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
|
|
|
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
|
|
|
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
|
|
|
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
|
|
|
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
|
|
|
NM_002454.3(MTRR):c.1794G>A (p.Lys598=)
|
rs2126814001
|
|
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
|
|
|
NM_002454.3(MTRR):c.1803C>T (p.Ile601=)
|
rs1448214074
|
|
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
|
|
|
NM_002454.3(MTRR):c.1809T>C (p.Thr603=)
|
rs1390898831
|
|
NM_002454.3(MTRR):c.1815A>G (p.Leu605=)
|
rs2126814152
|
|
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn)
|
rs939239779
|
|
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
|
|
|
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr)
|
rs2126814266
|
|
NM_002454.3(MTRR):c.1839T>A (p.Ala613=)
|
rs2126814313
|
|
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
|
|
|
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
|
|
|
NM_002454.3(MTRR):c.1854G>A (p.Glu618=)
|
rs955857433
|
|
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
|
|
|
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
|
|
|
NM_002454.3(MTRR):c.186C>T (p.Thr62=)
|
rs940332374
|
|
NM_002454.3(MTRR):c.1875G>A (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1875G>C (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
|
|
|
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
|
|
|
NM_002454.3(MTRR):c.1887C>A (p.Ile629=)
|
rs2126814585
|
|
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
|
|
|
NM_002454.3(MTRR):c.1893T>C (p.Leu631=)
|
rs114274194
|
|
NM_002454.3(MTRR):c.1902G>A (p.Gln634=)
|
rs945164864
|
|
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
|
|
|
NM_002454.3(MTRR):c.1912A>C (p.Arg638=)
|
rs2126814708
|
|
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
|
|
|
NM_002454.3(MTRR):c.1923C>G (p.Leu641=)
|
rs1738686385
|
|
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
|
|
|
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
|
|
|
NM_002454.3(MTRR):c.1929G>A (p.Glu643=)
|
rs1738688155
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
NM_002454.3(MTRR):c.1938T>C (p.His646=)
|
rs747850307
|
|
NM_002454.3(MTRR):c.1952+10T>A
|
|
|
NM_002454.3(MTRR):c.1952+10T>C
|
|
|
NM_002454.3(MTRR):c.1952+10_1952+12del
|
rs2126815094
|
|
NM_002454.3(MTRR):c.1952+11A>T
|
|
|
NM_002454.3(MTRR):c.1952+12_1952+16dup
|
|
|
NM_002454.3(MTRR):c.1952+13C>T
|
|
|
NM_002454.3(MTRR):c.1952+17C>A
|
|
|
NM_002454.3(MTRR):c.1952+20A>G
|
|
|
NM_002454.3(MTRR):c.1952+7C>T
|
|
|
NM_002454.3(MTRR):c.1953-14A>G
|
|
|
NM_002454.3(MTRR):c.1953-14_1953-12del
|
|
|
NM_002454.3(MTRR):c.1953-15T>C
|
|
|
NM_002454.3(MTRR):c.1953-16T>C
|
|
|
NM_002454.3(MTRR):c.1953-18T>C
|
|
|
NM_002454.3(MTRR):c.1953-19T>C
|
|
|
NM_002454.3(MTRR):c.1953-20C>T
|
|
|
NM_002454.3(MTRR):c.1953-4C>G
|
|
|
NM_002454.3(MTRR):c.1953-4C>T
|
|
|
NM_002454.3(MTRR):c.1953-9C>A
|
|
|
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
|
|
|
NM_002454.3(MTRR):c.1956T>C (p.Asp652=)
|
rs765283033
|
|
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
|
|
|
NM_002454.3(MTRR):c.195A>G (p.Pro65=)
|
rs1166869664
|
|
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
|
|
|
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val)
|
rs1739209079
|
|
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
|
|
|
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
|
|
|
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu)
|
rs751318676
|
|
NM_002454.3(MTRR):c.1983T>C (p.His661=)
|
|
|
NM_002454.3(MTRR):c.1986T>C (p.Asp662=)
|
rs2126829225
|
|
NM_002454.3(MTRR):c.1989C>T (p.Ala663=)
|
rs2126829261
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
|
rs1747827267
|
|
NM_002454.3(MTRR):c.2001A>T (p.Ile667=)
|
rs1186554585
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala)
|
rs775031794
|
|
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
|
|
|
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
|
|
|
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
|
|
|
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
|
|
|
NM_002454.3(MTRR):c.2088T>C (p.Ile696=)
|
rs2126829944
|
|
NM_002454.3(MTRR):c.2094A>G (p.Ser698=)
|
rs1249803440
|
|
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
|
|
|
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)
|
rs1748351304
|
|
NM_002454.3(MTRR):c.226del (p.Ile76fs)
|
|
|
NM_002454.3(MTRR):c.227del (p.Ile76fs)
|
|
|
NM_002454.3(MTRR):c.228dup (p.Gln77fs)
|
rs2126663415
|
|
NM_002454.3(MTRR):c.234C>T (p.Asn78=)
|
rs757746363
|
|
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
|
|
|
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.245C>T (p.Pro82Leu)
|
|
|
NM_002454.3(MTRR):c.246G>A (p.Pro82=)
|
rs149300444
|
|
NM_002454.3(MTRR):c.24T>C (p.Tyr8=)
|
rs1747831647
|
|
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
|
|
|
NM_002454.3(MTRR):c.261T>C (p.Ala87=)
|
rs138167806
|
|
NM_002454.3(MTRR):c.263del (p.His88fs)
|
|
|
NM_002454.3(MTRR):c.264C>T (p.His88=)
|
rs770540418
|
|
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
|
|
|
NM_002454.3(MTRR):c.270del (p.Tyr91fs)
|
rs1579619636
|
|
NM_002454.3(MTRR):c.277T>C (p.Leu93=)
|
rs1318273666
|
|
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
|
|
|
NM_002454.3(MTRR):c.283+13C>T
|
|
|
NM_002454.3(MTRR):c.283+15C>G
|
|
|
NM_002454.3(MTRR):c.283+1G>A
|
|
|
NM_002454.3(MTRR):c.283+1_283+20del
|
rs1748371268
|
|
NM_002454.3(MTRR):c.283+9C>T
|
rs2126663981
|
|
NM_002454.3(MTRR):c.283+9CT[3]
|
rs1341998318
|
|
NM_002454.3(MTRR):c.284-17G>A
|
|
|
NM_002454.3(MTRR):c.284-17del
|
|
|
NM_002454.3(MTRR):c.284-18T>C
|
|
|
NM_002454.3(MTRR):c.284-5T>G
|
|
|
NM_002454.3(MTRR):c.284-6C>T
|
|
|
NM_002454.3(MTRR):c.288C>G (p.Leu96=)
|
rs35587995
|
|
NM_002454.3(MTRR):c.290del (p.Gly97fs)
|
|
|
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
|
|
|
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
|
|
|
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
|
|
|
NM_002454.3(MTRR):c.312T>C (p.Phe104=)
|
rs1044244393
|
|
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
|
|
|
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
|
|
|
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
|
|
|
NM_002454.3(MTRR):c.324del (p.Lys109fs)
|
rs1189298981
|
|
NM_002454.3(MTRR):c.333T>C (p.Ile111=)
|
rs2126675587
|
|
NM_002454.3(MTRR):c.339del (p.Lys113fs)
|
|
|
NM_002454.3(MTRR):c.340del (p.Arg114fs)
|
rs2126675629
|
|
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
|
|
|
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
|
|
|
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
|
|
|
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly)
|
rs2126675683
|
|
NM_002454.3(MTRR):c.354T>G (p.Leu118=)
|
rs1465852233
|
|
NM_002454.3(MTRR):c.354_358del (p.Gly119fs)
|
rs2126675707
|
|
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
|
|
|
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
|
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
|
|
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
|
|
|
NM_002454.3(MTRR):c.375C>T (p.Asp125=)
|
rs757292247
|
|
NM_002454.3(MTRR):c.378_384del (p.Gly127fs)
|
|
|
NM_002454.3(MTRR):c.381A>G (p.Gly127=)
|
rs771642983
|
|
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
|
|
|
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
|
|
|
NM_002454.3(MTRR):c.397G>C (p.Val133Leu)
|
rs770923981
|
|
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
|
|
|
NM_002454.3(MTRR):c.401+12_401+13del
|
|
|
NM_002454.3(MTRR):c.401+14T>A
|
|
|
NM_002454.3(MTRR):c.401+17C>G
|
|
|
NM_002454.3(MTRR):c.401+17C>T
|
|
|
NM_002454.3(MTRR):c.401+2_401+7del
|
rs2126676051
|
|
NM_002454.3(MTRR):c.402-18T>C
|
|
|
NM_002454.3(MTRR):c.402-1G>C
|
|
|
NM_002454.3(MTRR):c.402-1G>T
|
rs1734858651
|
|
NM_002454.3(MTRR):c.402-2A>G
|
rs2126692827
|
|
NM_002454.3(MTRR):c.402-6G>T
|
rs2126692815
|
|
NM_002454.3(MTRR):c.402-6del
|
|
|
NM_002454.3(MTRR):c.414G>A (p.Val138=)
|
|
|
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
|
|
|
NM_002454.3(MTRR):c.423G>C (p.Pro141=)
|
rs753947379
|
|
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
|
|
|
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg)
|
rs2126693065
|
|
NM_002454.3(MTRR):c.456G>A (p.Lys152=)
|
rs1734864252
|
|
NM_002454.3(MTRR):c.462T>C (p.Phe154=)
|
rs2126693127
|
|
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
|
|
|
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
|
|
|
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
|
|
|
NM_002454.3(MTRR):c.477A>C (p.Gly159=)
|
rs1270504511
|
|
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
|
|
|
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly)
|
rs1734869328
|
|
NM_002454.3(MTRR):c.488_489del (p.Ile163fs)
|
|
|
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
|
|
|
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
|
|
|
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
|
|
|
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
|
|
|
NM_002454.3(MTRR):c.507G>T (p.Val169=)
|
rs367609729
|
|
NM_002454.3(MTRR):c.516T>C (p.Pro172=)
|
rs1579656831
|
|
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
|
|
|
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.534C>T (p.Asp178=)
|
rs1417585228
|
|
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
|
|
|
NM_002454.3(MTRR):c.558C>T (p.His186=)
|
|
|
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
|
|
|
NM_002454.3(MTRR):c.573C>G (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.573C>T (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.579T>C (p.Leu193=)
|
rs2126694174
|
|
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
|
|
|
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
|
|
|
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn)
|
rs748186027
|
|
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
|
|
|
NM_002454.3(MTRR):c.593del (p.Asp198fs)
|
|
|
NM_002454.3(MTRR):c.596C>G (p.Ser199Ter)
|
|
|
NM_002454.3(MTRR):c.606G>A (p.Lys202=)
|
rs368030155
|
|
NM_002454.3(MTRR):c.612T>G (p.Ser204=)
|
rs374670570
|
|
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
|
|
|
NM_002454.3(MTRR):c.630T>C (p.Asn210=)
|
rs2126694596
|
|
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
|
|
|
NM_002454.3(MTRR):c.636G>A (p.Val212=)
|
rs368140804
|
|
NM_002454.3(MTRR):c.636G>C (p.Val212=)
|
|
|
NM_002454.3(MTRR):c.645C>T (p.Asn215=)
|
rs1734907656
|
|
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
|
|
|
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
|
|
|
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
|
|
|
NM_002454.3(MTRR):c.654T>C (p.Asn218=)
|
rs770060665
|
|
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
|
|
|
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.681A>G (p.Ser227=)
|
rs749515067
|
|
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
|
|
|
NM_002454.3(MTRR):c.693G>C (p.Ser231=)
|
rs775348918
|
|
NM_002454.3(MTRR):c.6G>A (p.Arg2=)
|
rs560321328
|
|
NM_002454.3(MTRR):c.702A>C (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.702A>G (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe)
|
rs371860776
|
|
NM_002454.3(MTRR):c.718_719del (p.Leu240fs)
|
rs1207820860
|
|
NM_002454.3(MTRR):c.734del (p.Leu245fs)
|
rs1734927527
|
|
NM_002454.3(MTRR):c.735A>G (p.Leu245=)
|
rs1343821146
|
|
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
|
|
|
NM_002454.3(MTRR):c.740del (p.Pro247fs)
|
rs752858024
|
|
NM_002454.3(MTRR):c.741del (p.Glu248fs)
|
rs1734931275
|
|
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
|
|
|
NM_002454.3(MTRR):c.754del (p.Val252fs)
|
|
|
NM_002454.3(MTRR):c.75A>G (p.Gln25=)
|
rs1553999358
|
|
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
|
|
|
NM_002454.3(MTRR):c.780+17T>C
|
|
|
NM_002454.3(MTRR):c.780+17T>G
|
|
|
NM_002454.3(MTRR):c.780+19A>G
|
|
|
NM_002454.3(MTRR):c.780+19del
|
|
|
NM_002454.3(MTRR):c.780+8A>G
|
rs1283751633
|
|
NM_002454.3(MTRR):c.781-2A>C
|
|
|
NM_002454.3(MTRR):c.781-2A>T
|
|
|
NM_002454.3(MTRR):c.781-4C>T
|
rs1057521905
|
|
NM_002454.3(MTRR):c.781-5T>G
|
rs2126727387
|
|
NM_002454.3(MTRR):c.781-6T>C
|
|
|
NM_002454.3(MTRR):c.781-8T>C
|
|
|
NM_002454.3(MTRR):c.789C>T (p.Ser263=)
|
rs577950573
|
|
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
|
|
|
NM_002454.3(MTRR):c.815del (p.Pro272fs)
|
rs2126727585
|
|
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
|
|
|
NM_002454.3(MTRR):c.81G>A (p.Val27=)
|
rs1361273528
|
|
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
|
|
|
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
|
|
|
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
|
|
|
NM_002454.3(MTRR):c.849A>G (p.Gln283=)
|
rs1464577162
|
|
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
|
|
|
NM_002454.3(MTRR):c.858G>A (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>C (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
|
|
|
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser)
|
rs750009895
|
|
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
|
|
|
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr)
|
rs776031136
|
|
NM_002454.3(MTRR):c.867C>G (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.867C>T (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.873A>G (p.Lys291=)
|
rs2126727889
|
|
NM_002454.3(MTRR):c.87T>C (p.His29=)
|
rs1212726848
|
|
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
|
|
|
NM_002454.3(MTRR):c.892T>C (p.Leu298=)
|
rs758638445
|
|
NM_002454.3(MTRR):c.901del (p.Ser301fs)
|
|
|
NM_002454.3(MTRR):c.903+11A>G
|
|
|
NM_002454.3(MTRR):c.903+15T>G
|
|
|
NM_002454.3(MTRR):c.903+17_903+20del
|
|
|
NM_002454.3(MTRR):c.903+1G>A
|
|
|
NM_002454.3(MTRR):c.903+7T>C
|
|
|
NM_002454.3(MTRR):c.903+9C>T
|
|
|
NM_002454.3(MTRR):c.904-10T>C
|
|
|
NM_002454.3(MTRR):c.904-12G>T
|
|
|
NM_002454.3(MTRR):c.904-16T>C
|
|
|
NM_002454.3(MTRR):c.904-18A>G
|
|
|
NM_002454.3(MTRR):c.904-19C>T
|
|
|
NM_002454.3(MTRR):c.904-1G>T
|
|
|
NM_002454.3(MTRR):c.904-20T>C
|
|
|
NM_002454.3(MTRR):c.904-20_904-19insTC
|
rs1554003809
|
|
NM_002454.3(MTRR):c.904-20_904-19insTTC
|
rs1554003809
|
|
NM_002454.3(MTRR):c.904-20dup
|
rs11398509
|
|
NM_002454.3(MTRR):c.904-2A>G
|
|
|
NM_002454.3(MTRR):c.904-3dup
|
rs764339809
|
|
NM_002454.3(MTRR):c.904-4C>A
|
|
|
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
|
|
|
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
|
|
|
NM_002454.3(MTRR):c.909A>G (p.Thr303=)
|
rs747851597
|
|
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
|
|
|
NM_002454.3(MTRR):c.916del (p.Ser306fs)
|
rs1212701617
|
|
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
|
|
|
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
|
|
|
NM_002454.3(MTRR):c.930A>C (p.Gly310=)
|
rs2126744786
|
|
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
|
|
|
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
|
|
|
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
|
|
|
NM_002454.3(MTRR):c.936C>G (p.Ala312=)
|
rs777075473
|
|
NM_002454.3(MTRR):c.939C>T (p.Phe313=)
|
rs1475861942
|
|
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
|
|
|
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu)
|
rs2126745024
|
|
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
|
|
|
NM_002454.3(MTRR):c.957C>T (p.Asn319=)
|
rs2126745060
|
|
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
|
|
|
NM_002454.3(MTRR):c.972A>C (p.Val324=)
|
|
|
NM_002454.3(MTRR):c.973_1146+462del
|
|
|
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly)
|
rs2126745139
|
|
NM_002454.3(MTRR):c.979C>T (p.Leu327=)
|
rs2126745164
|
|
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
|
|
|
NM_002454.3(MTRR):c.984C>G (p.Leu328=)
|
rs752543039
|
|
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
|
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)
|
rs10064631
|
|
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
|
|
|
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
|
|
|
NM_005050.4(ABCD4):c.1028+19C>G
|
|
|
NM_005050.4(ABCD4):c.1028+20C>A
|
rs2139899171
|
|
NM_005050.4(ABCD4):c.1028+8C>T
|
|
|
NM_005050.4(ABCD4):c.1028+9G>T
|
|
|
NM_005050.4(ABCD4):c.1029-14C>G
|
|
|
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
|
|
|
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
|
|
|
NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln)
|
rs147100216
|
|
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu)
|
rs147100216
|
|
NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)
|
rs35073715
|
|
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
|
|
|
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
|
|
|
NM_005050.4(ABCD4):c.1118+1G>A
|
|
|
NM_005050.4(ABCD4):c.1118+1G>T
|
|
|
NM_005050.4(ABCD4):c.1119-20C>T
|
|
|
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
|
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
NM_005050.4(ABCD4):c.1158dup (p.Phe387fs)
|
|
|
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
|
|
|
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
|
|
|
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
|
|
|
NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs)
|
|
|
NM_005050.4(ABCD4):c.1237G>T (p.Glu413Ter)
|
|
|
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)
|
rs2081160348
|
|
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
|
|
|
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)
|
rs945270666
|
|
NM_005050.4(ABCD4):c.1294del (p.Arg432fs)
|
rs1435760575
|
|
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
|
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)
|
rs2081143591
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
|
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
|
|
NM_005050.4(ABCD4):c.1327+9C>A
|
|
|
NM_005050.4(ABCD4):c.1328-10G>A
|
|
|
NM_005050.4(ABCD4):c.1328-18T>C
|
|
|
NM_005050.4(ABCD4):c.1328-19G>A
|
rs376137295
|
|
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
|
|
|
NM_005050.4(ABCD4):c.1343_1349delinsCCCATGGG (p.Leu448fs)
|
|
|
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
|
|
|
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)
|
rs1594861158
|
|
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
|
|
|
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
|
|
|
NM_005050.4(ABCD4):c.1419+15G>A
|
|
|
NM_005050.4(ABCD4):c.1420-11dup
|
|
|
NM_005050.4(ABCD4):c.1420-3del
|
|
|
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
|
|
|
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)
|
rs1045211254
|
|
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
|
|
|
NM_005050.4(ABCD4):c.1438G>T (p.Glu480Ter)
|
|
|
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
|
|
|
NM_005050.4(ABCD4):c.1456+9G>T
|
|
|
NM_005050.4(ABCD4):c.1456G>T (p.Gly486Cys)
|
rs2080853826
|
|
NM_005050.4(ABCD4):c.1457-18G>A
|
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
|
|
|
NM_005050.4(ABCD4):c.1507-11G>C
|
rs375805220
|
|
NM_005050.4(ABCD4):c.1507-3_1507-2dup
|
rs746298456
|
|
NM_005050.4(ABCD4):c.1507-4A>G
|
|
|
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
|
|
|
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
|
|
|
NM_005050.4(ABCD4):c.1559+13C>T
|
|
|
NM_005050.4(ABCD4):c.1559+16G>A
|
|
|
NM_005050.4(ABCD4):c.1559+7_1559+11del
|
rs1381694360
|
|
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)
|
rs2140107509
|
|
NM_005050.4(ABCD4):c.158-14C>T
|
|
|
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
|
|
|
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
|
|
|
NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)
|
|
|
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
|
|
|
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)
|
rs754370477
|
|
NM_005050.4(ABCD4):c.1637-15G>T
|
rs2079892790
|
|
NM_005050.4(ABCD4):c.1637-6C>G
|
|
|
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
|
|
|
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)
|
rs2139698542
|
|
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)
|
rs138753274
|
|
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)
|
rs1204078851
|
|
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
|
|
|
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
|
|
|
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
|
|
|
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
|
|
|
NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs)
|
rs387907315
|
|
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)
|
rs2139689489
|
|
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
|
|
|
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)
|
rs2140174798
|
|
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)
|
rs2140093719
|
|
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
|
|
|
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
|
|
|
NM_005050.4(ABCD4):c.244_245del (p.Leu82fs)
|
|
|
NM_005050.4(ABCD4):c.285+1G>T
|
|
|
NM_005050.4(ABCD4):c.286-10C>G
|
|
|
NM_005050.4(ABCD4):c.286-3C>T
|
|
|
NM_005050.4(ABCD4):c.286-7T>A
|
|
|
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
|
|
|
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
|
|
|
NM_005050.4(ABCD4):c.373del (p.Arg125fs)
|
|
|
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
|
|
|
NM_005050.4(ABCD4):c.38+16G>A
|
|
|
NM_005050.4(ABCD4):c.38+18G>A
|
|
|
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
|
|
|
NM_005050.4(ABCD4):c.39-19C>T
|
|
|
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
|
|
|
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
|
|
|
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
|
|
|
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)
|
rs972140495
|
|
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
|
|
|
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
|
|
|
NM_005050.4(ABCD4):c.426-11A>G
|
rs2140018313
|
|
NM_005050.4(ABCD4):c.426-1G>A
|
|
|
NM_005050.4(ABCD4):c.426-4C>G
|
rs765378243
|
|
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
|
|
|
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)
|
rs150967109
|
|
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)
|
rs574925291
|
|
NM_005050.4(ABCD4):c.454C>T (p.Arg152Ter)
|
|
|
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
|
|
|
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
|
|
|
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
|
|
|
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)
|
rs778245157
|
|
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
|
|
|
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
|
|
|
NM_005050.4(ABCD4):c.528C>A (p.Tyr176Ter)
|
|
|
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
|
|
|
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
|
|
|
NM_005050.4(ABCD4):c.542+20C>G
|
rs2140013486
|
|
NM_005050.4(ABCD4):c.543-11C>G
|
|
|
NM_005050.4(ABCD4):c.543-17CT[3]
|
|
|
NM_005050.4(ABCD4):c.543-17CT[4]
|
|
|
NM_005050.4(ABCD4):c.565_566del (p.Ser189fs)
|
|
|
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
|
|
|
NM_005050.4(ABCD4):c.57A>G (p.Gln19=)
|
rs574817590
|
|
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
|
|
|
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
|
|
|
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
|
|
|
NM_005050.4(ABCD4):c.669-1G>A
|
|
|
NM_005050.4(ABCD4):c.669-2A>G
|
|
|
NM_005050.4(ABCD4):c.669-6G>A
|
|
|
NM_005050.4(ABCD4):c.669-6G>T
|
rs115029507
|
|
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
|
|
|
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
|
|
|
NM_005050.4(ABCD4):c.708del (p.Ala237fs)
|
|
|
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
|
|
|
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
|
|
|
NM_005050.4(ABCD4):c.719+2T>G
|
rs2082518811
|
|
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
|
|
|
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
|
|
|
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
|
|
|
NM_005050.4(ABCD4):c.767dup (p.Leu257fs)
|
|
|
NM_005050.4(ABCD4):c.7dup (p.Val3fs)
|
|
|
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)
|
rs1566959741
|
|
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
|
|
|
NM_005050.4(ABCD4):c.814+13G>A
|
|
|
NM_005050.4(ABCD4):c.814+6C>T
|
rs1012967402
|
|
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
|
|
|
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)
|
rs2081908223
|
|
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
|
|
|
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
|
|
|
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)
|
rs2084043062
|
|
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
|
|
|
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
|
|
|
NM_005050.4(ABCD4):c.936+1G>A
|
|
|
NM_005050.4(ABCD4):c.936+20A>C
|
|
|
NM_005050.4(ABCD4):c.936+20A>G
|
|
|
NM_005050.4(ABCD4):c.937-17C>T
|
|
|
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
|
|
|
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)
|
|
|
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
|
|
|
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
|
|
|
NM_005142.2(CBLIF):c.-376A>T
|
rs796064509
|
|
NM_005142.3(CBLIF):c.1001A>T (p.Asn334Ile)
|
|
|
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
|
|
|
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
|
|
|
NM_005142.3(CBLIF):c.1051C>G (p.Gln351Glu)
|
|
|
NM_005142.3(CBLIF):c.1054C>T (p.Arg352Cys)
|
|
|
NM_005142.3(CBLIF):c.1067T>C (p.Met356Thr)
|
|
|
NM_005142.3(CBLIF):c.106G>A (p.Val36Ile)
|
|
|
NM_005142.3(CBLIF):c.1074-10dup
|
rs769669334
|
|
NM_005142.3(CBLIF):c.1074-14A>G
|
rs541611142
|
|
NM_005142.3(CBLIF):c.1087A>G (p.Met363Val)
|
|
|
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
|
|
|
NM_005142.3(CBLIF):c.1108G>A (p.Val370Ile)
|
|
|
NM_005142.3(CBLIF):c.1129G>A (p.Ala377Thr)
|
|
|
NM_005142.3(CBLIF):c.1175dup (p.Thr393fs)
|
rs1590854624
|
|
NM_005142.3(CBLIF):c.1181del (p.Pro394fs)
|
rs1565206584
|
|
NM_005142.3(CBLIF):c.1192+7G>A
|
rs1417075488
|
|
NM_005142.3(CBLIF):c.1221C>G (p.His407Gln)
|
rs148989677
|
|
NM_005142.3(CBLIF):c.128T>C (p.Met43Thr)
|
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
|
|
|
NM_005142.3(CBLIF):c.161del (p.Asn54fs)
|
rs1590860794
|
|
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)
|
rs765896727
|
|
NM_005142.3(CBLIF):c.20A>T (p.Tyr7Phe)
|
|
|
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
|
|
|
NM_005142.3(CBLIF):c.232C>T (p.Gln78Ter)
|
rs1565210437
|
|
NM_005142.3(CBLIF):c.256+18C>T
|
|
|
NM_005142.3(CBLIF):c.256+20C>T
|
|
|
NM_005142.3(CBLIF):c.257-13C>T
|
|
|
NM_005142.3(CBLIF):c.271C>A (p.Gln91Lys)
|
|
|
NM_005142.3(CBLIF):c.27G>A (p.Leu9=)
|
|
|
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
|
|
|
NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)
|
|
|
NM_005142.3(CBLIF):c.311G>A (p.Arg104Gln)
|
|
|
NM_005142.3(CBLIF):c.331T>A (p.Ser111Thr)
|
|
|
NM_005142.3(CBLIF):c.334A>C (p.Ile112Leu)
|
|
|
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter)
|
rs796064508
|
|
NM_005142.3(CBLIF):c.370+10G>T
|
|
|
NM_005142.3(CBLIF):c.370+13T>C
|
|
|
NM_005142.3(CBLIF):c.370+14G>A
|
|
|
NM_005142.3(CBLIF):c.370+1G>C
|
|
|
NM_005142.3(CBLIF):c.370+20G>A
|
|
|
NM_005142.3(CBLIF):c.370+83_426del
|
|
|
NM_005142.3(CBLIF):c.371-19T>C
|
|
|
NM_005142.3(CBLIF):c.371-4G>A
|
|
|
NM_005142.3(CBLIF):c.373C>T (p.Pro125Ser)
|
|
|
NM_005142.3(CBLIF):c.381T>G (p.Ala127=)
|
rs1590860111
|
|
NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)
|
|
|
NM_005142.3(CBLIF):c.418T>C (p.Leu140=)
|
rs141917734
|
|
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del)
|
rs770530971
|
|
NM_005142.3(CBLIF):c.438C>T (p.Asn146=)
|
|
|
NM_005142.3(CBLIF):c.446C>A (p.Ala149Glu)
|
rs781509423
|
|
NM_005142.3(CBLIF):c.468C>T (p.Arg156=)
|
|
|
NM_005142.3(CBLIF):c.47C>T (p.Ala16Val)
|
|
|
NM_005142.3(CBLIF):c.510A>T (p.Val170=)
|
|
|
NM_005142.3(CBLIF):c.512-17C>A
|
|
|
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
|
|
|
NM_005142.3(CBLIF):c.524T>C (p.Met175Thr)
|
rs886048404
|
|
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
|
|
|
NM_005142.3(CBLIF):c.574G>A (p.Glu192Lys)
|
rs1866524413
|
|
NM_005142.3(CBLIF):c.62A>G (p.Gln21Arg)
|
|
|
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)
|
rs1590859406
|
|
NM_005142.3(CBLIF):c.693+10T>G
|
|
|
NM_005142.3(CBLIF):c.693+8C>T
|
|
|
NM_005142.3(CBLIF):c.693+9G>A
|
|
|
NM_005142.3(CBLIF):c.749C>T (p.Thr250Met)
|
|
|
NM_005142.3(CBLIF):c.754A>T (p.Met252Leu)
|
rs1866468089
|
|
NM_005142.3(CBLIF):c.778G>C (p.Gly260Arg)
|
rs756139879
|
|
NM_005142.3(CBLIF):c.78C>T (p.Cys26=)
|
|
|
NM_005142.3(CBLIF):c.79+10_79+12del
|
|
|
NM_005142.3(CBLIF):c.79+11T>C
|
|
|
NM_005142.3(CBLIF):c.80-1G>A
|
rs1590860877
|
|
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
|
|
|
NM_005142.3(CBLIF):c.834G>C (p.Lys278Asn)
|
rs886048403
|
|
NM_005142.3(CBLIF):c.871+14C>G
|
|
|
NM_005142.3(CBLIF):c.953T>C (p.Ile318Thr)
|
|
|
NM_005142.3(CBLIF):c.997A>G (p.Ile333Val)
|
|
|
NM_005334.3(HCFC1):c.-970T>C
|
rs398122908
|
|
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
|
rs2065417308
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
NM_005334.3(HCFC1):c.1084+17C>T
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
|
|
NM_005334.3(HCFC1):c.1085-17A>G
|
|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
|
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val)
|
rs868948937
|
|
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
|
|
|
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
|
|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
|
|
NM_005334.3(HCFC1):c.1444+14C>T
|
|
|
NM_005334.3(HCFC1):c.1444+18G>A
|
|
|
NM_005334.3(HCFC1):c.1445-11T>C
|
|
|
NM_005334.3(HCFC1):c.1445-17G>T
|
|
|
NM_005334.3(HCFC1):c.1445-20C>G
|
|
|
NM_005334.3(HCFC1):c.1445-7T>C
|
|
|
NM_005334.3(HCFC1):c.1445-8C>G
|
|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
|
|
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
|
|
|
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
|
|
NM_005334.3(HCFC1):c.1606-16C>T
|
|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
|
|
|
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
|
rs1557115869
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
NM_005334.3(HCFC1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
NM_005334.3(HCFC1):c.2028+18C>T
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
|
|
|
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
|
|
|
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
|
|
|
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)
|
rs397515487
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)
|
rs2065388763
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
NM_005334.3(HCFC1):c.2496+18G>A
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
NM_005334.3(HCFC1):c.2497-9G>T
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
|
|
|
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
|
|
|
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)
|
rs782757775
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
|
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
NM_005334.3(HCFC1):c.2857-14G>C
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
|
|
|
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
|
|
|
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
|
|
|
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=)
|
rs782300483
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
NM_005334.3(HCFC1):c.3021C>T (p.Gly1007=)
|
|
|
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
|
rs2065362050
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
NM_005334.3(HCFC1):c.342+11C>T
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
|
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
|
|
|
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
|
|
|
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
|
|
|
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
|
|
|
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
|
rs2065355018
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
|
|
|
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
|
|
|
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
|
|
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
|
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
|
|
|
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)
|
rs782136932
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
|
rs2065343736
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
NM_005334.3(HCFC1):c.4334-10G>A
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
|
|
|
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
|
|
|
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
|
|
|
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
|
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
|
|
|
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
|
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
|
|
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
NM_005334.3(HCFC1):c.4498-7C>T
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr)
|
rs782652831
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
|
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
|
|
|
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
|
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
|
|
|
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
NM_005334.3(HCFC1):c.481G>A (p.Asp161Asn)
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
|
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
|
|
|
NM_005334.3(HCFC1):c.5003G>C (p.Gly1668Ala)
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
|
|
|
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)
|
rs869312686
|
|
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
|
rs2065317868
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
|
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
|
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
|
|
|
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
|
|
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
|
|
|
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
|
|
|
NM_005334.3(HCFC1):c.5260+16C>T
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
NM_005334.3(HCFC1):c.5261-5C>T
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
NM_005334.3(HCFC1):c.5380-20G>A
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del)
|
rs782769309
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
NM_005334.3(HCFC1):c.5517+20G>C
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
|
rs2065303644
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
NM_005334.3(HCFC1):c.5703+18del
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
|
|
|
NM_005334.3(HCFC1):c.5782G>A (p.Ala1928Thr)
|
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
|
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
|
|
|
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
NM_005334.3(HCFC1):c.6004+14G>T
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
NM_005334.3(HCFC1):c.6005-12C>G
|
rs181583112
|
|
NM_005334.3(HCFC1):c.6005-12C>T
|
rs181583112
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
NM_005334.3(HCFC1):c.6068+20C>T
|
|
|
NM_005334.3(HCFC1):c.6069-20T>C
|
|
|
NM_005334.3(HCFC1):c.6069-8C>T
|
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn)
|
rs318240758
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
NM_005334.3(HCFC1):c.713-12G>A
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
NM_005334.3(HCFC1):c.713-18C>T
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
|
|
|
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
|
|
|
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
|
|
|
NM_015506.3(MMACHC):c.*5C>G
|
rs557994288
|
|
NM_015506.3(MMACHC):c.107C>G (p.Pro36Arg)
|
|
|
NM_015506.3(MMACHC):c.120C>T (p.His40=)
|
|
|
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
|
rs2149323203
|
|
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
|
|
|
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
|
|
|
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)
|
rs2149323209
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
|
|
|
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
|
rs936938761
|
|
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
|
|
|
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
|
|
|
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
|
rs775502093
|
|
NM_015506.3(MMACHC):c.146C>T (p.Ala49Val)
|
|
|
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)
|
rs1570829648
|
|
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
|
|
|
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
|
|
|
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
|
|
|
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)
|
rs756980496
|
|
NM_015506.3(MMACHC):c.15C>T (p.Val5=)
|
rs902026116
|
|
NM_015506.3(MMACHC):c.160A>G (p.Ser54Gly)
|
|
|
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)
|
rs750127773
|
|
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
|
|
|
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
|
|
|
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
|
|
|
NM_015506.3(MMACHC):c.173T>C (p.Met58Thr)
|
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.187del (p.Leu63fs)
|
rs1343936481
|
|
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
|
|
|
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
|
|
|
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
|
|
|
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter)
|
rs1570829862
|
|
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)
|
rs2149323253
|
|
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)
|
rs772225967
|
|
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
|
|
|
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
|
rs2149323265
|
|
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
|
|
|
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
|
rs2149323280
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
|
|
|
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
|
|
|
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
|
|
|
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
|
rs2149323292
|
|
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)
|
rs1553162786
|
|
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
|
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
NM_015506.3(MMACHC):c.276+13C>G
|
rs543041810
|
|
NM_015506.3(MMACHC):c.276+13C>T
|
|
|
NM_015506.3(MMACHC):c.276+13_276+14del
|
|
|
NM_015506.3(MMACHC):c.276+17T>C
|
|
|
NM_015506.3(MMACHC):c.276+20C>T
|
|
|
NM_015506.3(MMACHC):c.276+2T>C
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
NM_015506.3(MMACHC):c.276+5G>A
|
|
|
NM_015506.3(MMACHC):c.276+8A>G
|
|
|
NM_015506.3(MMACHC):c.276+9G>A
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.277-10A>C
|
|
|
NM_015506.3(MMACHC):c.277-13T>C
|
|
|
NM_015506.3(MMACHC):c.277-14G>A
|
|
|
NM_015506.3(MMACHC):c.277-15T>G
|
|
|
NM_015506.3(MMACHC):c.277-17_277-16insA
|
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
NM_015506.3(MMACHC):c.277-20T>C
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.277-4C>T
|
|
|
NM_015506.3(MMACHC):c.277-6T>C
|
|
|
NM_015506.3(MMACHC):c.277-7G>A
|
rs1258697986
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.277-9C>T
|
|
|
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
|
|
|
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
|
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
|
|
|
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)
|
rs1643664191
|
|
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)
|
rs566356386
|
|
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
|
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.304A>G (p.Ile102Val)
|
|
|
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
|
|
|
NM_015506.3(MMACHC):c.30G>C (p.Gln10His)
|
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)
|
rs1553162829
|
|
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
|
|
|
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)
|
rs1557607881
|
|
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
|
rs528744719
|
|
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
|
|
|
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
|
rs758730415
|
|
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
|
|
|
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)
|
rs2149323547
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)
|
rs2149323560
|
|
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)
|
rs770446383
|
|
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
|
|
|
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter)
|
rs2149323575
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
|
rs1643666069
|
|
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
|
rs1006520706
|
|
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
|
|
|
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
|
|
|
NM_015506.3(MMACHC):c.364dup (p.His122fs)
|
rs1557607997
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.366T>C (p.His122=)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
|
rs1643666589
|
|
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
|
|
|
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
|
|
|
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
|
|
|
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)
|
rs1553162848
|
|
NM_015506.3(MMACHC):c.374G>C (p.Gly125Ala)
|
|
|
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
|
|
|
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)
|
rs1553162857
|
|
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)
|
rs779234540
|
|
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)
|
rs2149323606
|
|
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)
|
rs369335868
|
|
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)
|
rs1455190457
|
|
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
|
|
|
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
|
rs1643667928
|
|
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)
|
rs2149323618
|
|
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
|
|
|
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
|
rs1553162868
|
|
NM_015506.3(MMACHC):c.429+12A>C
|
|
|
NM_015506.3(MMACHC):c.429+13del
|
|
|
NM_015506.3(MMACHC):c.429+14T>A
|
|
|
NM_015506.3(MMACHC):c.429+14T>C
|
|
|
NM_015506.3(MMACHC):c.429+18_429+21del
|
|
|
NM_015506.3(MMACHC):c.429+1G>C
|
rs1643668441
|
|
NM_015506.3(MMACHC):c.429+20T>C
|
|
|
NM_015506.3(MMACHC):c.429+20T>G
|
|
|
NM_015506.3(MMACHC):c.429+7G>A
|
rs1227206156
|
|
NM_015506.3(MMACHC):c.429+7_429+31del
|
rs2149323628
|
|
NM_015506.3(MMACHC):c.429+9G>C
|
|
|
NM_015506.3(MMACHC):c.430-10C>A
|
|
|
NM_015506.3(MMACHC):c.430-10C>T
|
rs550692873
|
|
NM_015506.3(MMACHC):c.430-11C>T
|
|
|
NM_015506.3(MMACHC):c.430-12C>T
|
|
|
NM_015506.3(MMACHC):c.430-13A>T
|
|
|
NM_015506.3(MMACHC):c.430-16T>C
|
|
|
NM_015506.3(MMACHC):c.430-1G>A
|
|
|
NM_015506.3(MMACHC):c.430-2A>G
|
|
|
NM_015506.3(MMACHC):c.430-8C>T
|
rs1217401490
|
|
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
|
|
|
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
|
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)
|
rs747550590
|
|
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
|
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
|
rs756413692
|
|
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
|
|
|
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
|
|
|
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
|
|
|
NM_015506.3(MMACHC):c.455_457del (p.Pro152del)
|
|
|
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)
|
rs750623781
|
|
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
|
|
|
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu)
|
rs606231425
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.468_470del (p.Trp157del)
|
|
|
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
|
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
|
|
|
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)
|
rs2149323826
|
|
NM_015506.3(MMACHC):c.47T>C (p.Leu16Pro)
|
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
|
|
|
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
|
|
|
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
|
|
|
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
|
rs1570832855
|
|
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
|
rs765960386
|
|
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)
|
rs1417321919
|
|
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)
|
rs1249948465
|
|
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
|
rs761111018
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
|
|
|
NM_015506.3(MMACHC):c.500del (p.Pro167fs)
|
rs1553162918
|
|
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
|
|
|
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
|
|
|
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
|
rs1643678565
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
|
|
|
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
|
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
|
|
NM_015506.3(MMACHC):c.534del (p.Lys178fs)
|
rs2149323872
|
|
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)
|
rs1553162931
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)
|
rs955468279
|
|
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr)
|
rs372010149
|
|
NM_015506.3(MMACHC):c.546T>C (p.Cys182=)
|
rs2149323890
|
|
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
|
|
|
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)
|
rs1305170860
|
|
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
|
|
|
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
|
rs1553162934
|
|
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
|
|
|
NM_015506.3(MMACHC):c.557G>A (p.Arg186Lys)
|
|
|
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)
|
rs1553162937
|
|
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)
|
rs748747319
|
|
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
|
rs1397062260
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
|
rs375442063
|
|
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)
|
rs750572915
|
|
NM_015506.3(MMACHC):c.574del (p.Leu192fs)
|
rs1553162943
|
|
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro)
|
rs1233135084
|
|
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
|
rs766342926
|
|
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
|
|
|
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
|
|
|
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
|
|
|
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
|
|
|
NM_015506.3(MMACHC):c.592T>C (p.Phe198Leu)
|
|
|
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
|
|
|
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
|
rs1399932916
|
|
NM_015506.3(MMACHC):c.600G>A (p.Trp200Ter)
|
rs796051997
|
|
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
|
|
|
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
|
rs1643682280
|
|
NM_015506.3(MMACHC):c.604G>T (p.Asp202Tyr)
|
|
|
NM_015506.3(MMACHC):c.611C>T (p.Thr204Ile)
|
|
|
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
|
|
|
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
|
rs1163462384
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
|
|
|
NM_015506.3(MMACHC):c.619del (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
|
|
|
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.626dup (p.Thr210fs)
|
rs1570833527
|
|
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
|
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
|
|
|
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
|
|
|
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)
|
rs192924272
|
|
NM_015506.3(MMACHC):c.634del (p.Gln212fs)
|
|
|
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)
|
rs2149320920
|
|
NM_015506.3(MMACHC):c.640dup (p.Arg214fs)
|
|
|
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
|
|
|
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
|
rs755843695
|
|
NM_015506.3(MMACHC):c.647_649del (p.Ser216_Glu217delinsTer)
|
rs2149323994
|
|
NM_015506.3(MMACHC):c.648dup (p.Glu217fs)
|
|
|
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
|
rs483352740
|
|
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
|
rs1363738186
|
|
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)
|
rs199641732
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.655C>G (p.Gln219Glu)
|
|
|
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)
|
rs398124296
|
|
NM_015506.3(MMACHC):c.661_664dup (p.Tyr222fs)
|
|
|
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
|
|
|
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)
|
rs781527733
|
|
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
|
|
|
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
|
rs2149324023
|
|
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
|
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
NM_015506.3(MMACHC):c.687del (p.Gln229fs)
|
|
|
NM_015506.3(MMACHC):c.689G>A (p.Arg230Gln)
|
|
|
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)
|
rs767496391
|
|
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
|
|
|
NM_015506.3(MMACHC):c.701del (p.Leu234fs)
|
rs767339897
|
|
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
|
|
|
NM_015506.3(MMACHC):c.707T>C (p.Leu236Ser)
|
|
|
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
|
|
|
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
|
|
|
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
|
|
|
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
|
|
|
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)
|
rs764969563
|
|
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
|
|
|
NM_015506.3(MMACHC):c.728del (p.Pro243fs)
|
rs1409915649
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)
|
rs755881820
|
|
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)
|
rs1173232857
|
|
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
|
|
|
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)
|
rs1553162993
|
|
NM_015506.3(MMACHC):c.748C>A (p.Leu250Ile)
|
|
|
NM_015506.3(MMACHC):c.753C>A (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
|
|
|
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
|
|
|
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
|
|
|
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
|
rs771203889
|
|
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)
|
rs533256855
|
|
NM_015506.3(MMACHC):c.764C>T (p.Pro255Leu)
|
|
|
NM_015506.3(MMACHC):c.766G>A (p.Ala256Thr)
|
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
|
|
|
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)
|
rs763886783
|
|
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
|
|
|
NM_015506.3(MMACHC):c.78C>A (p.Phe26Leu)
|
|
|
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)
|
rs770431439
|
|
NM_015506.3(MMACHC):c.790A>C (p.Ser264Arg)
|
|
|
NM_015506.3(MMACHC):c.791G>A (p.Ser264Asn)
|
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
|
rs1643689610
|
|
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)
|
rs34258482
|
|
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)
|
rs1553163005
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.81+10T>G
|
rs2149320953
|
|
NM_015506.3(MMACHC):c.81+11C>A
|
|
|
NM_015506.3(MMACHC):c.81+13C>G
|
|
|
NM_015506.3(MMACHC):c.81+13C>T
|
|
|
NM_015506.3(MMACHC):c.81+15C>T
|
|
|
NM_015506.3(MMACHC):c.81+17T>C
|
|
|
NM_015506.3(MMACHC):c.81+1G>A
|
rs745366624
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.81+1G>T
|
|
|
NM_015506.3(MMACHC):c.81+2T>C
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
|
|
|
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
|
rs1311947307
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
NM_015506.3(MMACHC):c.81G>A (p.Gln27=)
|
rs1553162317
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-16G>C
|
|
|
NM_015506.3(MMACHC):c.82-17T>C
|
|
|
NM_015506.3(MMACHC):c.82-18C>T
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.82-2A>G
|
|
|
NM_015506.3(MMACHC):c.82-7G>A
|
|
|
NM_015506.3(MMACHC):c.82-8T>C
|
|
|
NM_015506.3(MMACHC):c.822C>A (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
|
rs1288893138
|
|
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
|
|
|
NM_015506.3(MMACHC):c.839del (p.Pro280fs)
|
rs1553163017
|
|
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)
|
rs1553163019
|
|
NM_015506.3(MMACHC):c.845C>G (p.Pro282Arg)
|
|
|
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
|
|
|
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
|
|
|
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
|
|
|
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?)
|
rs1553163021
|
|
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)
|
rs1553163024
|
|
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?)
|
rs1553163027
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)
|
rs1289618918
|
|
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
|
|
|
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
|
|
|
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
|
|
|
NM_015506.3:c.275_278del
|
|
|
NM_015702.3(MMADHC):c.-136G>C
|
rs1682898571
|
|
NM_015702.3(MMADHC):c.-145A>G
|
rs12477482
|
|
NM_015702.3(MMADHC):c.-52-3C>G
|
rs886054922
|
|
NM_015702.3(MMADHC):c.-62G>A
|
rs886054924
|
|
NM_015702.3(MMADHC):c.10-11G>C
|
|
|
NM_015702.3(MMADHC):c.10-13G>A
|
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.10-3T>C
|
rs886054921
|
|
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
|
|
|
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)
|
rs761480889
|
|
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
|
|
|
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
|
|
|
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
|
|
|
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
|
|
|
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
|
|
|
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
|
rs1190732521
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
|
rs864309740
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
|
|
|
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
|
|
|
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
|
rs2105049895
|
|
NM_015702.3(MMADHC):c.151dup (p.Ile51fs)
|
|
|
NM_015702.3(MMADHC):c.154+17A>C
|
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.154+20G>C
|
|
|
NM_015702.3(MMADHC):c.154+9A>T
|
rs2105049874
|
|
NM_015702.3(MMADHC):c.155-10T>C
|
|
|
NM_015702.3(MMADHC):c.155-11dup
|
rs1573878813
|
|
NM_015702.3(MMADHC):c.155-12_155-10del
|
|
|
NM_015702.3(MMADHC):c.155-16T>G
|
|
|
NM_015702.3(MMADHC):c.155-16del
|
|
|
NM_015702.3(MMADHC):c.155-17T>C
|
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.155-6C>T
|
|
|
NM_015702.3(MMADHC):c.155-7T>C
|
rs1305728146
|
|
NM_015702.3(MMADHC):c.155-8C>G
|
rs1349035917
|
|
NM_015702.3(MMADHC):c.157_191del (p.Ser53fs)
|
|
|
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
|
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)
|
rs1682767724
|
|
NM_015702.3(MMADHC):c.168G>A (p.Val56=)
|
rs2105048289
|
|
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter)
|
|
|
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
|
|
|
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
|
|
|
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
|
rs2105048270
|
|
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
|
|
|
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)
|
rs1334273037
|
|
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter)
|
|
|
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
|
|
|
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
|
rs1327529103
|
|
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
|
|
|
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
|
rs864309741
|
|
NM_015702.3(MMADHC):c.22dup (p.Arg8fs)
|
|
|
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer)
|
|
|
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
|
|
|
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
|
|
|
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
|
|
|
NM_015702.3(MMADHC):c.249C>T (p.His83=)
|
|
|
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs)
|
rs1553454436
|
|
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
|
|
|
NM_015702.3(MMADHC):c.268C>T (p.Gln90Ter)
|
|
|
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
|
|
|
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs)
|
rs1573878695
|
|
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
|
|
|
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)
|
rs1053884096
|
|
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)
|
rs749344711
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
|
|
|
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
|
|
|
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
|
|
|
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
|
|
|
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter)
|
rs2105048127
|
|
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
|
|
|
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
|
|
|
NM_015702.3(MMADHC):c.369dup (p.Gln124fs)
|
|
|
NM_015702.3(MMADHC):c.372+17A>G
|
|
|
NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
|
NM_015702.3(MMADHC):c.372+8G>A
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>C
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>T
|
|
|
NM_015702.3(MMADHC):c.373-10dup
|
rs1682721920
|
|
NM_015702.3(MMADHC):c.373-13T>C
|
|
|
NM_015702.3(MMADHC):c.373-13T>G
|
|
|
NM_015702.3(MMADHC):c.373-14C>G
|
|
|
NM_015702.3(MMADHC):c.373-18T>C
|
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.373-2A>G
|
|
|
NM_015702.3(MMADHC):c.373-4T>G
|
|
|
NM_015702.3(MMADHC):c.373-5C>A
|
|
|
NM_015702.3(MMADHC):c.373-5C>T
|
|
|
NM_015702.3(MMADHC):c.373-8C>G
|
|
|
NM_015702.3(MMADHC):c.373-8C>T
|
|
|
NM_015702.3(MMADHC):c.391dup (p.Glu131fs)
|
|
|
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)
|
rs1682721203
|
|
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)
|
rs543128117
|
|
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
|
|
|
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
|
|
|
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)
|
rs768142805
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)
|
rs374470946
|
|
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
|
rs1323984126
|
|
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)
|
rs1226772166
|
|
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
NM_015702.3(MMADHC):c.478+10G>A
|
|
|
NM_015702.3(MMADHC):c.478+12T>C
|
|
|
NM_015702.3(MMADHC):c.478+15A>T
|
|
|
NM_015702.3(MMADHC):c.478+19T>G
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
NM_015702.3(MMADHC):c.478+7C>A
|
|
|
NM_015702.3(MMADHC):c.478+7C>T
|
rs2105046042
|
|
NM_015702.3(MMADHC):c.478+8A>T
|
|
|
NM_015702.3(MMADHC):c.478+9T>C
|
rs1573877066
|
|
NM_015702.3(MMADHC):c.479-11_479-9del
|
rs777304368
|
|
NM_015702.3(MMADHC):c.479-13T>C
|
|
|
NM_015702.3(MMADHC):c.479-15T>A
|
|
|
NM_015702.3(MMADHC):c.479-18G>C
|
|
|
NM_015702.3(MMADHC):c.479-20A>G
|
|
|
NM_015702.3(MMADHC):c.479-2A>G
|
|
|
NM_015702.3(MMADHC):c.479-4G>A
|
rs2105045611
|
|
NM_015702.3(MMADHC):c.479-6T>C
|
rs1682708794
|
|
NM_015702.3(MMADHC):c.479-7T>A
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.479-7T>C
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
|
|
|
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
|
|
|
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)
|
rs2105050018
|
|
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)
|
rs1347714473
|
|
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
|
|
|
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)
|
rs369822209
|
|
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
|
|
|
NM_015702.3(MMADHC):c.534A>G (p.Val178=)
|
rs1268371654
|
|
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
|
|
|
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter)
|
|
|
NM_015702.3(MMADHC):c.544dup (p.Thr182fs)
|
rs1308639482
|
|
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs)
|
|
|
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
|
|
|
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
|
|
|
NM_015702.3(MMADHC):c.556_557del (p.Met186fs)
|
rs1682706954
|
|
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
|
|
|
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
|
|
|
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter)
|
|
|
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
|
|
|
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
|
|
|
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
|
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs)
|
rs2105045491
|
|
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
|
|
|
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
|
|
|
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)
|
rs2105045479
|
|
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)
|
rs1553453961
|
|
NM_015702.3(MMADHC):c.609+11C>G
|
|
|
NM_015702.3(MMADHC):c.609+13A>G
|
|
|
NM_015702.3(MMADHC):c.609+14T>C
|
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
NM_015702.3(MMADHC):c.609+8T>G
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_015702.3(MMADHC):c.610-12C>T
|
|
|
NM_015702.3(MMADHC):c.610-13A>G
|
|
|
NM_015702.3(MMADHC):c.610-1G>A
|
|
|
NM_015702.3(MMADHC):c.610-4G>A
|
rs776311269
|
|
NM_015702.3(MMADHC):c.610-8C>T
|
|
|
NM_015702.3(MMADHC):c.610-8del
|
|
|
NM_015702.3(MMADHC):c.610-9C>A
|
|
|
NM_015702.3(MMADHC):c.610-9C>G
|
|
|
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)
|
rs1573874420
|
|
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
|
|
|
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
|
|
|
NM_015702.3(MMADHC):c.634dup (p.Cys212fs)
|
|
|
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs)
|
rs2105042265
|
|
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
|
|
|
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)
|
rs141093638
|
|
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs)
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
|
|
|
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
|
rs2105042235
|
|
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
|
rs2105042231
|
|
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
|
|
|
NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)
|
|
|
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
|
rs766184567
|
|
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
|
|
|
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter)
|
rs2105042210
|
|
NM_015702.3(MMADHC):c.696+16T>C
|
|
|
NM_015702.3(MMADHC):c.696+17T>A
|
|
|
NM_015702.3(MMADHC):c.696+3_696+6del
|
rs397509364
|
|
NM_015702.3(MMADHC):c.697-10A>G
|
|
|
NM_015702.3(MMADHC):c.697-16G>A
|
|
|
NM_015702.3(MMADHC):c.697-17C>T
|
|
|
NM_015702.3(MMADHC):c.697-18del
|
|
|
NM_015702.3(MMADHC):c.697-21_697-7dup
|
|
|
NM_015702.3(MMADHC):c.697-4T>C
|
|
|
NM_015702.3(MMADHC):c.697-5C>T
|
|
|
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)
|
rs1682618008
|
|
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
|
rs1682617973
|
|
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
|
rs550333538
|
|
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
|
|
|
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)
|
rs2105041533
|
|
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
|
|
|
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
|
|
|
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
|
|
|
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)
|
rs773493767
|
|
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)
|
rs2105041468
|
|
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
|
|
|
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
|
|
|
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)
|
rs1682615780
|
|
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)
|
rs2105041421
|
|
NM_015702.3(MMADHC):c.819T>C (p.His273=)
|
rs752425275
|
|
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
|
rs1474967244
|
|
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
|
|
|
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
|
|
|
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)
|
rs2105041390
|
|
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
|
rs559044965
|
|
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
|
|
|
NM_015702.3(MMADHC):c.864T>C (p.His288=)
|
|
|
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
|
rs1401528755
|
|
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)
|
rs1558844562
|
|
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
|
|
|
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
|
|
|
NM_015702.3(MMADHC):c.9+12A>T
|
|
|
NM_015702.3(MMADHC):c.9+16C>T
|
|
|
NM_015702.3(MMADHC):c.9+17T>A
|
rs372601477
|
|
NM_015702.3(MMADHC):c.9+17T>G
|
|
|
NM_015702.3(MMADHC):c.9+18T>G
|
rs2105053453
|
|
NM_015702.3(MMADHC):c.9+19A>C
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_015702.3(MMADHC):c.9+5G>A
|
|
|
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
|
rs2105049979
|
|
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
|
|
|
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)
|
rs1366609158
|
|
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
|
rs368111926
|
|
NM_016579.4(CD320):c.111G>T (p.Pro37=)
|
|
|
NM_016579.4(CD320):c.11G>A (p.Gly4Asp)
|
rs2232774
|
|
NM_016579.4(CD320):c.11G>C (p.Gly4Ala)
|
rs2232774
|
|
NM_016579.4(CD320):c.139G>C (p.Ala47Pro)
|
|
|
NM_016579.4(CD320):c.142+10G>A
|
|
|
NM_016579.4(CD320):c.142+4A>G
|
|
|
NM_016579.4(CD320):c.142G>C (p.Gly48Arg)
|
|
|
NM_016579.4(CD320):c.143-5C>T
|
|
|
NM_016579.4(CD320):c.166C>T (p.Pro56Ser)
|
|
|
NM_016579.4(CD320):c.167C>T (p.Pro56Leu)
|
rs1329946054
|
|
NM_016579.4(CD320):c.168_171del (p.Thr57fs)
|
|
|
NM_016579.4(CD320):c.178C>T (p.Gln60Ter)
|
rs1281977713
|
|
NM_016579.4(CD320):c.179A>T (p.Gln60Leu)
|
|
|
NM_016579.4(CD320):c.195_223del (p.Leu66fs)
|
|
|
NM_016579.4(CD320):c.229G>A (p.Asp77Asn)
|
|
|
NM_016579.4(CD320):c.240C>T (p.Cys80=)
|
|
|
NM_016579.4(CD320):c.242G>A (p.Ser81Asn)
|
|
|
NM_016579.4(CD320):c.245A>T (p.Asp82Val)
|
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016579.4(CD320):c.268+15C>T
|
|
|
NM_016579.4(CD320):c.268+4A>C
|
|
|
NM_016579.4(CD320):c.302C>G (p.Pro101Arg)
|
|
|
NM_016579.4(CD320):c.305C>T (p.Pro102Leu)
|
rs767897892
|
|
NM_016579.4(CD320):c.314G>T (p.Gly105Val)
|
|
|
NM_016579.4(CD320):c.32C>T (p.Ala11Val)
|
rs567898376
|
|
NM_016579.4(CD320):c.337G>A (p.Val113Ile)
|
|
|
NM_016579.4(CD320):c.350C>T (p.Ser117Phe)
|
|
|
NM_016579.4(CD320):c.356G>T (p.Gly119Val)
|
|
|
NM_016579.4(CD320):c.386G>T (p.Arg129Leu)
|
rs139064611
|
|
NM_016579.4(CD320):c.412C>A (p.Arg138Ser)
|
rs201166605
|
|
NM_016579.4(CD320):c.427G>A (p.Asp143Asn)
|
|
|
NM_016579.4(CD320):c.446C>T (p.Thr149Met)
|
|
|
NM_016579.4(CD320):c.451C>T (p.Arg151Cys)
|
rs769150463
|
|
NM_016579.4(CD320):c.456C>T (p.Cys152=)
|
rs758485696
|
|
NM_016579.4(CD320):c.477C>A (p.Pro159=)
|
rs201828443
|
|
NM_016579.4(CD320):c.486C>T (p.Ser162=)
|
|
|
NM_016579.4(CD320):c.487G>A (p.Asp163Asn)
|
|
|
NM_016579.4(CD320):c.495C>G (p.Leu165=)
|
|
|
NM_016579.4(CD320):c.495C>T (p.Leu165=)
|
rs199545496
|
|
NM_016579.4(CD320):c.502+13G>C
|
|
|
NM_016579.4(CD320):c.502+3A>G
|
|
|
NM_016579.4(CD320):c.502G>A (p.Gly168Arg)
|
|
|
NM_016579.4(CD320):c.503-17G>T
|
|
|
NM_016579.4(CD320):c.503-18C>T
|
rs114265368
|
|
NM_016579.4(CD320):c.506C>T (p.Thr169Ile)
|
|
|
NM_016579.4(CD320):c.509A>G (p.Asn170Ser)
|
|
|
NM_016579.4(CD320):c.521C>T (p.Pro174Leu)
|
|
|
NM_016579.4(CD320):c.522G>A (p.Pro174=)
|
rs79658260
|
|
NM_016579.4(CD320):c.551C>T (p.Pro184Leu)
|
|
|
NM_016579.4(CD320):c.555G>A (p.Val185=)
|
|
|
NM_016579.4(CD320):c.571_624del (p.Thr191_Val208del)
|
|
|
NM_016579.4(CD320):c.571_624dup (p.Val208_Pro209insThrSerLeuArgAsnAlaThrThrMetGlyProProValThrLeuGluSerVal)
|
|
|
NM_016579.4(CD320):c.599G>T (p.Gly200Val)
|
|
|
NM_016579.4(CD320):c.60GCT[7] (p.Leu24_Leu25dup)
|
rs750768529
|
|
NM_016579.4(CD320):c.622_624del (p.Val208del)
|
|
|
NM_016579.4(CD320):c.633C>T (p.Val211=)
|
|
|
NM_016579.4(CD320):c.634G>A (p.Gly212Arg)
|
|
|
NM_016579.4(CD320):c.634G>T (p.Gly212Trp)
|
rs550390075
|
|
NM_016579.4(CD320):c.660A>C (p.Gly220=)
|
|
|
NM_016579.4(CD320):c.679A>G (p.Thr227Ala)
|
rs766740010
|
|
NM_016579.4(CD320):c.681T>C (p.Thr227=)
|
|
|
NM_016579.4(CD320):c.685T>C (p.Tyr229His)
|
|
|
NM_016579.4(CD320):c.6C>T (p.Ser2=)
|
rs749442494
|
|
NM_016579.4(CD320):c.708G>A (p.Ala236=)
|
rs768870573
|
|
NM_016579.4(CD320):c.708G>T (p.Ala236=)
|
|
|
NM_016579.4(CD320):c.75C>T (p.Leu25=)
|
rs371432802
|
|
NM_016579.4(CD320):c.760C>A (p.Arg254=)
|
rs750760449
|
|
NM_016579.4(CD320):c.76G>A (p.Gly26Ser)
|
|
|
NM_016579.4(CD320):c.800C>T (p.Ala267Val)
|
|
|
NM_016579.4(CD320):c.839C>T (p.Ser280Leu)
|
|
|
NM_016579.4(CD320):c.96G>C (p.Glu32Asp)
|
|
|
NM_018368.4(LMBRD1):c.*220G>T
|
rs1765534415
|
|
NM_018368.4(LMBRD1):c.*77G>T
|
rs886061690
|
|
NM_018368.4(LMBRD1):c.-57T>C
|
rs886061693
|
|
NM_018368.4(LMBRD1):c.-88C>G
|
rs557851763
|
|
NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
|
|
|
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly)
|
rs773844453
|
|
NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr)
|
rs2149844901
|
|
NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser)
|
rs1766127830
|
|
NM_018368.4(LMBRD1):c.1083+11_1083+14del
|
|
|
NM_018368.4(LMBRD1):c.1083+12A>T
|
|
|
NM_018368.4(LMBRD1):c.1083+15A>C
|
|
|
NM_018368.4(LMBRD1):c.1083+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-12dup
|
rs757172535
|
|
NM_018368.4(LMBRD1):c.1084-16C>A
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>T
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
NM_018368.4(LMBRD1):c.1084-20A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-3dup
|
|
|
NM_018368.4(LMBRD1):c.1084-4del
|
rs757172535
|
|
NM_018368.4(LMBRD1):c.1084-5_1084-4dup
|
|
|
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs)
|
rs2149844541
|
|
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
|
|
|
NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr)
|
|
|
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
|
|
|
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
|
|
|
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
|
NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr)
|
rs2149844500
|
|
NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp)
|
|
|
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
|
|
|
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+3del
|
|
|
NM_018368.4(LMBRD1):c.1188+10T>A
|
|
|
NM_018368.4(LMBRD1):c.1188+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1189-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1189-13C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-17C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-19G>C
|
rs767672251
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
NM_018368.4(LMBRD1):c.1189-4C>G
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>T
|
rs199650812
|
|
NM_018368.4(LMBRD1):c.1189-8C>A
|
|
|
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
|
|
|
NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
|
|
|
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
|
|
|
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
|
|
|
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
|
|
|
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
|
|
|
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
|
|
|
NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn)
|
|
|
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
|
|
|
NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys)
|
|
|
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
|
|
|
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
|
|
|
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
|
|
|
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
|
|
|
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)
|
rs2149843427
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
NM_018368.4(LMBRD1):c.1339-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1339-18T>A
|
|
|
NM_018368.4(LMBRD1):c.1339-8T>C
|
|
|
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
|
|
|
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
|
|
|
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
|
|
|
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
|
|
|
NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser)
|
|
|
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
|
|
|
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
NM_018368.4(LMBRD1):c.1417+12T>C
|
|
|
NM_018368.4(LMBRD1):c.1418-14A>G
|
|
|
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
|
|
|
NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp)
|
|
|
NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln)
|
|
|
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
|
|
|
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
|
|
|
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
|
|
|
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
|
|
|
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
|
|
|
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
|
|
|
NM_018368.4(LMBRD1):c.1509+12T>C
|
rs2149832420
|
|
NM_018368.4(LMBRD1):c.1509+13A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+15C>T
|
|
|
NM_018368.4(LMBRD1):c.1509+18A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+20G>A
|
rs116095397
|
|
NM_018368.4(LMBRD1):c.1509+7G>A
|
|
|
NM_018368.4(LMBRD1):c.1510-11T>C
|
|
|
NM_018368.4(LMBRD1):c.1510-16T>G
|
|
|
NM_018368.4(LMBRD1):c.1510-4A>G
|
|
|
NM_018368.4(LMBRD1):c.1510-9A>C
|
|
|
NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val)
|
|
|
NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe)
|
rs758878362
|
|
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
|
|
|
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
|
|
|
NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr)
|
|
|
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
|
|
|
NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)
|
|
|
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
|
|
|
NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)
|
rs761378514
|
|
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
|
|
|
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
|
|
|
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
|
rs1402538766
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
|
|
|
NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val)
|
rs750928457
|
|
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
|
|
|
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
|
|
|
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
|
|
|
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
|
|
|
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
|
|
|
NM_018368.4(LMBRD1):c.1A>G (p.Met1Val)
|
|
|
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
|
|
|
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
|
|
|
NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)
|
|
|
NM_018368.4(LMBRD1):c.246+10A>G
|
|
|
NM_018368.4(LMBRD1):c.246+16C>T
|
|
|
NM_018368.4(LMBRD1):c.247-13C>A
|
|
|
NM_018368.4(LMBRD1):c.247-14T>A
|
|
|
NM_018368.4(LMBRD1):c.247-17G>A
|
|
|
NM_018368.4(LMBRD1):c.247-20A>G
|
|
|
NM_018368.4(LMBRD1):c.247-6T>C
|
|
|
NM_018368.4(LMBRD1):c.247-8T>A
|
rs769329039
|
|
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
|
|
|
NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr)
|
|
|
NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr)
|
|
|
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=)
|
rs769952932
|
|
NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val)
|
rs756284919
|
|
NM_018368.4(LMBRD1):c.307+13C>T
|
|
|
NM_018368.4(LMBRD1):c.307+15G>A
|
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
NM_018368.4(LMBRD1):c.308-17A>G
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
NM_018368.4(LMBRD1):c.308-5C>T
|
|
|
NM_018368.4(LMBRD1):c.308-6C>T
|
|
|
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
|
|
|
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
|
|
|
NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)
|
|
|
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
|
|
|
NM_018368.4(LMBRD1):c.357C>T (p.Val119=)
|
rs2149877968
|
|
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
|
|
|
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
|
rs1765174962
|
|
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
|
|
|
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
|
|
|
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
|
|
|
NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val)
|
|
|
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
|
|
|
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
|
|
|
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
|
rs1582124917
|
|
NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro)
|
|
|
NM_018368.4(LMBRD1):c.404del (p.Thr135fs)
|
rs1562112641
|
|
NM_018368.4(LMBRD1):c.405+17T>A
|
|
|
NM_018368.4(LMBRD1):c.405+18A>G
|
|
|
NM_018368.4(LMBRD1):c.405+19G>C
|
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
NM_018368.4(LMBRD1):c.405+9C>A
|
|
|
NM_018368.4(LMBRD1):c.406-18T>C
|
|
|
NM_018368.4(LMBRD1):c.406-8G>A
|
|
|
NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser)
|
|
|
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
|
|
|
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
|
|
|
NM_018368.4(LMBRD1):c.44G>A (p.Trp15Ter)
|
|
|
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
|
|
|
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
|
|
|
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
|
|
|
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
|
|
|
NM_018368.4(LMBRD1):c.473+10G>C
|
|
|
NM_018368.4(LMBRD1):c.473+11A>T
|
|
|
NM_018368.4(LMBRD1):c.474-16A>G
|
|
|
NM_018368.4(LMBRD1):c.474-4G>A
|
|
|
NM_018368.4(LMBRD1):c.474-6T>C
|
|
|
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
|
|
|
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
|
|
|
NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser)
|
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
|
|
|
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
|
|
|
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
|
|
|
NM_018368.4(LMBRD1):c.553G>T (p.Gly185Ter)
|
|
|
NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys)
|
|
|
NM_018368.4(LMBRD1):c.562+10G>T
|
|
|
NM_018368.4(LMBRD1):c.562+13T>C
|
|
|
NM_018368.4(LMBRD1):c.562+14T>G
|
|
|
NM_018368.4(LMBRD1):c.562+15T>C
|
|
|
NM_018368.4(LMBRD1):c.562+18del
|
|
|
NM_018368.4(LMBRD1):c.562+18dup
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
NM_018368.4(LMBRD1):c.562+1del
|
|
|
NM_018368.4(LMBRD1):c.562+4_562+7del
|
|
|
NM_018368.4(LMBRD1):c.562+7A>G
|
|
|
NM_018368.4(LMBRD1):c.563-10T>G
|
|
|
NM_018368.4(LMBRD1):c.563-11T>C
|
rs1767012664
|
|
NM_018368.4(LMBRD1):c.563-13del
|
|
|
NM_018368.4(LMBRD1):c.563-15T>A
|
|
|
NM_018368.4(LMBRD1):c.563-18G>A
|
|
|
NM_018368.4(LMBRD1):c.563-19A>C
|
|
|
NM_018368.4(LMBRD1):c.563-19A>G
|
|
|
NM_018368.4(LMBRD1):c.563-20_563-19del
|
|
|
NM_018368.4(LMBRD1):c.563-6del
|
|
|
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly)
|
|
|
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=)
|
rs2149901083
|
|
NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr)
|
|
|
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
|
|
|
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
|
|
|
NM_018368.4(LMBRD1):c.632dup (p.Tyr211Ter)
|
|
|
NM_018368.4(LMBRD1):c.636+13G>A
|
|
|
NM_018368.4(LMBRD1):c.636+18A>G
|
|
|
NM_018368.4(LMBRD1):c.636+19A>C
|
|
|
NM_018368.4(LMBRD1):c.636+7G>T
|
|
|
NM_018368.4(LMBRD1):c.637-15T>A
|
|
|
NM_018368.4(LMBRD1):c.637-15T>C
|
|
|
NM_018368.4(LMBRD1):c.637-8T>C
|
|
|
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
|
|
|
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
|
|
|
NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys)
|
|
|
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
|
|
|
NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser)
|
rs2149856480
|
|
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
|
|
|
NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys)
|
rs2149856461
|
|
NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn)
|
|
|
NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)
|
|
|
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
|
|
|
NM_018368.4(LMBRD1):c.69+10G>T
|
|
|
NM_018368.4(LMBRD1):c.69+11C>G
|
|
|
NM_018368.4(LMBRD1):c.69+11C>T
|
|
|
NM_018368.4(LMBRD1):c.69+12G>A
|
|
|
NM_018368.4(LMBRD1):c.69+15T>C
|
|
|
NM_018368.4(LMBRD1):c.69+17G>C
|
|
|
NM_018368.4(LMBRD1):c.69+1G>A
|
|
|
NM_018368.4(LMBRD1):c.69+20T>C
|
|
|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
NM_018368.4(LMBRD1):c.69+8dup
|
|
|
NM_018368.4(LMBRD1):c.69+9G>A
|
|
|
NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
|
rs753043203
|
|
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
|
|
|
NM_018368.4(LMBRD1):c.70-20C>G
|
|
|
NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys)
|
|
|
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
|
|
|
NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln)
|
rs1766553572
|
|
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
|
|
|
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
|
|
|
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
|
|
|
NM_018368.4(LMBRD1):c.760A>T (p.Lys254Ter)
|
|
|
NM_018368.4(LMBRD1):c.762+11G>A
|
|
|
NM_018368.4(LMBRD1):c.762+12T>C
|
|
|
NM_018368.4(LMBRD1):c.762+15T>C
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
NM_018368.4(LMBRD1):c.762+7T>G
|
|
|
NM_018368.4(LMBRD1):c.763-10T>C
|
|
|
NM_018368.4(LMBRD1):c.763-11G>C
|
|
|
NM_018368.4(LMBRD1):c.763-13C>A
|
|
|
NM_018368.4(LMBRD1):c.763-19T>G
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val)
|
|
|
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
|
|
|
NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln)
|
|
|
NM_018368.4(LMBRD1):c.77dup (p.Leu26fs)
|
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
|
|
NM_018368.4(LMBRD1):c.800G>A (p.Arg267His)
|
|
|
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
|
|
|
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
|
|
|
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
|
|
|
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
|
|
|
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)
|
rs1582168492
|
|
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
|
|
|
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.915+16A>G
|
|
|
NM_018368.4(LMBRD1):c.915+16A>T
|
|
|
NM_018368.4(LMBRD1):c.915+18A>T
|
|
|
NM_018368.4(LMBRD1):c.915+19A>G
|
|
|
NM_018368.4(LMBRD1):c.916-13T>C
|
|
|
NM_018368.4(LMBRD1):c.916-1G>T
|
|
|
NM_018368.4(LMBRD1):c.916-7C>T
|
|
|
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
|
|
|
NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val)
|
rs1409901040
|
|
NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val)
|
rs2149845543
|
|
NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro)
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
|
|
|
NM_018368.4(LMBRD1):c.980+10G>A
|
|
|
NM_018368.4(LMBRD1):c.980+13G>A
|
|
|
NM_018368.4(LMBRD1):c.980+14A>G
|
|
|
NM_018368.4(LMBRD1):c.980+15C>T
|
|
|
NM_018368.4(LMBRD1):c.980+3A>G
|
|
|
NM_018368.4(LMBRD1):c.981-10T>A
|
|
|
NM_018368.4(LMBRD1):c.981-10T>C
|
|
|
NM_018368.4(LMBRD1):c.981-10dup
|
rs202207965
|
|
NM_018368.4(LMBRD1):c.981-14G>T
|
rs1324981458
|
|
NM_018368.4(LMBRD1):c.981-17T>C
|
|
|
NM_018368.4(LMBRD1):c.981-3del
|
|
|
NM_018368.4(LMBRD1):c.981-4T>G
|
|
|
NM_018368.4(LMBRD1):c.981-4_981-3dup
|
|
|
NM_018368.4(LMBRD1):c.981-8T>A
|
|
|
NM_018368.4(LMBRD1):c.981-9T>A
|
rs2149844964
|
|
NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr)
|
rs766881860
|
|
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
|
|
|
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
|
|
|
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
|
rs188675529
|
|
NM_030943.4(AMN):c.1002G>A (p.Glu334=)
|
|
|
NM_030943.4(AMN):c.1006+11_1008del
|
rs1566829097
|
|
NM_030943.4(AMN):c.1006+12C>G
|
|
|
NM_030943.4(AMN):c.1006+12_1006+35dup
|
|
|
NM_030943.4(AMN):c.1006+13G>A
|
|
|
NM_030943.4(AMN):c.1006+14C>T
|
|
|
NM_030943.4(AMN):c.1006+16_1006+30del
|
rs386834160
|
|
NM_030943.4(AMN):c.1006+18_1006+27del
|
|
|
NM_030943.4(AMN):c.1006+23_1006+36del
|
|
|
NM_030943.4(AMN):c.1006+27C>T
|
|
|
NM_030943.4(AMN):c.1006+28G>T
|
|
|
NM_030943.4(AMN):c.1006+33G>A
|
|
|
NM_030943.4(AMN):c.1006+33G>T
|
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
NM_030943.4(AMN):c.1006+36_1007-29del
|
rs386834162
|
|
NM_030943.4(AMN):c.1006+36_1007-34dup
|
|
|
NM_030943.4(AMN):c.1006+6C>T
|
|
|
NM_030943.4(AMN):c.1006+8C>A
|
|
|
NM_030943.4(AMN):c.1006+9G>A
|
|
|
NM_030943.4(AMN):c.1006+9G>T
|
|
|
NM_030943.4(AMN):c.1007-11C>G
|
|
|
NM_030943.4(AMN):c.1007-11C>T
|
|
|
NM_030943.4(AMN):c.1007-13C>T
|
|
|
NM_030943.4(AMN):c.1007-14C>T
|
|
|
NM_030943.4(AMN):c.1007-15G>A
|
|
|
NM_030943.4(AMN):c.1007-16G>A
|
|
|
NM_030943.4(AMN):c.1007-29G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>T
|
|
|
NM_030943.4(AMN):c.1007-31G>C
|
|
|
NM_030943.4(AMN):c.1007-31_1007-30insCC
|
|
|
NM_030943.4(AMN):c.1007-32C>T
|
|
|
NM_030943.4(AMN):c.1007-33G>T
|
|
|
NM_030943.4(AMN):c.1007-34del
|
|
|
NM_030943.4(AMN):c.1007-38_1007-34dup
|
|
|
NM_030943.4(AMN):c.1007-39C>T
|
|
|
NM_030943.4(AMN):c.1007-3C>T
|
rs1318731733
|
|
NM_030943.4(AMN):c.1007-4G>A
|
|
|
NM_030943.4(AMN):c.1007-7G>A
|
|
|
NM_030943.4(AMN):c.1007-9C>T
|
|
|
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
|
|
|
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
|
|
|
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
|
|
|
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs)
|
rs386834163
|
|
NM_030943.4(AMN):c.1017C>A (p.Leu339=)
|
rs1230984626
|
|
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
|
|
|
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
|
|
|
NM_030943.4(AMN):c.1036A>T (p.Met346Leu)
|
rs1215795347
|
|
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
|
|
|
NM_030943.4(AMN):c.1041_1042delinsCTC (p.Glu348fs)
|
rs2139312594
|
|
NM_030943.4(AMN):c.1041_1044dup (p.Ser349fs)
|
|
|
NM_030943.4(AMN):c.1056C>A (p.His352Gln)
|
rs773203683
|
|
NM_030943.4(AMN):c.105C>T (p.Asn35=)
|
|
|
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
|
|
|
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
|
|
|
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
|
|
|
NM_030943.4(AMN):c.1079G>A (p.Gly360Glu)
|
|
|
NM_030943.4(AMN):c.1079_1102del (p.Gly360_Ala367del)
|
rs1034496756
|
|
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
|
|
|
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
|
|
|
NM_030943.4(AMN):c.1093_1100dup (p.Ala368fs)
|
|
|
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
|
|
|
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
|
|
|
NM_030943.4(AMN):c.1114dup (p.Ala372fs)
|
|
|
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)
|
rs1428691401
|
|
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
|
|
|
NM_030943.4(AMN):c.1125_1133dup (p.Val378_Ala379insLeuLeuVal)
|
|
|
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
|
|
|
NM_030943.4(AMN):c.1134_1147del (p.Pro381fs)
|
|
|
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
|
|
|
NM_030943.4(AMN):c.1142C>T (p.Pro381Leu)
|
|
|
NM_030943.4(AMN):c.1145T>C (p.Leu382Pro)
|
|
|
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
|
|
|
NM_030943.4(AMN):c.1148T>C (p.Leu383Pro)
|
|
|
NM_030943.4(AMN):c.1150C>T (p.Arg384Cys)
|
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
NM_030943.4(AMN):c.1153C>T (p.Arg385Cys)
|
|
|
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1161dup (p.Arg388fs)
|
|
|
NM_030943.4(AMN):c.1169+10G>A
|
|
|
NM_030943.4(AMN):c.1169+14G>A
|
|
|
NM_030943.4(AMN):c.1169+16G>T
|
|
|
NM_030943.4(AMN):c.1169+17_1169+36del
|
|
|
NM_030943.4(AMN):c.1169+19C>T
|
|
|
NM_030943.4(AMN):c.1169+2T>C
|
|
|
NM_030943.4(AMN):c.1170-10A>G
|
|
|
NM_030943.4(AMN):c.1170-12C>T
|
|
|
NM_030943.4(AMN):c.1170-14C>T
|
|
|
NM_030943.4(AMN):c.1170-16C>T
|
|
|
NM_030943.4(AMN):c.1170-17C>T
|
|
|
NM_030943.4(AMN):c.1170-1G>C
|
|
|
NM_030943.4(AMN):c.1170-7C>A
|
|
|
NM_030943.4(AMN):c.1170-7C>T
|
|
|
NM_030943.4(AMN):c.1170-8G>A
|
|
|
NM_030943.4(AMN):c.1170-8G>C
|
|
|
NM_030943.4(AMN):c.1170-9C>T
|
|
|
NM_030943.4(AMN):c.1173G>A (p.Trp391Ter)
|
|
|
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
|
|
|
NM_030943.4(AMN):c.1182C>T (p.His394=)
|
|
|
NM_030943.4(AMN):c.1183G>A (p.Glu395Lys)
|
|
|
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
|
|
|
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1192G>T (p.Ala398Ser)
|
|
|
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
|
|
|
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
|
|
|
NM_030943.4(AMN):c.1199C>T (p.Ala400Val)
|
|
|
NM_030943.4(AMN):c.119G>A (p.Arg40Gln)
|
|
|
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
|
|
|
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
|
|
|
NM_030943.4(AMN):c.1210C>T (p.Leu404Phe)
|
|
|
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
|
|
|
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
|
|
|
NM_030943.4(AMN):c.1219C>T (p.Arg407Cys)
|
|
|
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
|
|
|
NM_030943.4(AMN):c.1222A>G (p.Asn408Asp)
|
|
|
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
|
|
|
NM_030943.4(AMN):c.1240A>G (p.Thr414Ala)
|
|
|
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
|
|
|
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
|
|
|
NM_030943.4(AMN):c.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1255dup (p.Leu419fs)
|
|
|
NM_030943.4(AMN):c.1257+10C>A
|
|
|
NM_030943.4(AMN):c.1257+15G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>C
|
|
|
NM_030943.4(AMN):c.1257+17G>A
|
|
|
NM_030943.4(AMN):c.1257+18G>A
|
|
|
NM_030943.4(AMN):c.1257+19G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>C
|
|
|
NM_030943.4(AMN):c.1257+20del
|
|
|
NM_030943.4(AMN):c.1257+20dup
|
rs759269975
|
|
NM_030943.4(AMN):c.1257+7G>T
|
|
|
NM_030943.4(AMN):c.1257+9del
|
|
|
NM_030943.4(AMN):c.1257+9dup
|
|
|
NM_030943.4(AMN):c.1257G>A (p.Leu419=)
|
rs2139313588
|
|
NM_030943.4(AMN):c.1258-14C>T
|
|
|
NM_030943.4(AMN):c.1258-15C>A
|
|
|
NM_030943.4(AMN):c.1258-15C>T
|
|
|
NM_030943.4(AMN):c.1258-4G>C
|
|
|
NM_030943.4(AMN):c.1258-5C>T
|
|
|
NM_030943.4(AMN):c.1258-8C>A
|
|
|
NM_030943.4(AMN):c.1258-9A>C
|
|
|
NM_030943.4(AMN):c.125C>T (p.Pro42Leu)
|
|
|
NM_030943.4(AMN):c.126G>A (p.Pro42=)
|
|
|
NM_030943.4(AMN):c.1270C>G (p.Arg424Gly)
|
|
|
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
|
|
|
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
|
|
|
NM_030943.4(AMN):c.1279C>T (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
|
|
|
NM_030943.4(AMN):c.1287G>A (p.Pro429=)
|
|
|
NM_030943.4(AMN):c.1287G>C (p.Pro429=)
|
rs2139314090
|
|
NM_030943.4(AMN):c.1288A>C (p.Lys430Gln)
|
|
|
NM_030943.4(AMN):c.1293G>A (p.Ala431=)
|
|
|
NM_030943.4(AMN):c.1295C>T (p.Ala432Val)
|
|
|
NM_030943.4(AMN):c.1296C>T (p.Ala432=)
|
|
|
NM_030943.4(AMN):c.1298C>T (p.Ala433Val)
|
|
|
NM_030943.4(AMN):c.1299A>G (p.Ala433=)
|
|
|
NM_030943.4(AMN):c.129C>T (p.Cys43=)
|
|
|
NM_030943.4(AMN):c.1308_1323dup (p.Val442fs)
|
rs2139314176
|
|
NM_030943.4(AMN):c.130G>A (p.Ala44Thr)
|
|
|
NM_030943.4(AMN):c.1310G>A (p.Ser437Asn)
|
|
|
NM_030943.4(AMN):c.1314C>T (p.His438=)
|
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.1317T>C (p.Ser439=)
|
|
|
NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
|
|
|
NM_030943.4(AMN):c.1330C>T (p.Pro444Ser)
|
rs1354241478
|
|
NM_030943.4(AMN):c.1333C>G (p.Leu445Val)
|
|
|
NM_030943.4(AMN):c.1338C>T (p.Phe446=)
|
|
|
NM_030943.4(AMN):c.1341C>T (p.Ala447=)
|
|
|
NM_030943.4(AMN):c.1341_1343delinsGGGGGCCGA (p.Ala453_Ter454insGluAla)
|
|
|
NM_030943.4(AMN):c.1343_1348dup (p.Gly448_Ala449dup)
|
rs36040113
|
|
NM_030943.4(AMN):c.1344G>A (p.Gly448=)
|
|
|
NM_030943.4(AMN):c.1347C>G (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1347C>T (p.Ala449=)
|
|
|
NM_030943.4(AMN):c.1347_1348insTCGGGCC (p.Glu450fs)
|
rs1566829819
|
|
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3])
|
rs763564473
|
|
NM_030943.4(AMN):c.134GCG[1] (p.Gly46del)
|
|
|
NM_030943.4(AMN):c.1350G>A (p.Glu450=)
|
|
|
NM_030943.4(AMN):c.1356G>A (p.Glu452=)
|
|
|
NM_030943.4(AMN):c.1359C>T (p.Ala453=)
|
|
|
NM_030943.4(AMN):c.135C>T (p.Gly45=)
|
|
|
NM_030943.4(AMN):c.136G>A (p.Gly46Ser)
|
|
|
NM_030943.4(AMN):c.138_162+20del
|
|
|
NM_030943.4(AMN):c.140C>T (p.Ala47Val)
|
|
|
NM_030943.4(AMN):c.141C>G (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.141C>T (p.Ala47=)
|
|
|
NM_030943.4(AMN):c.149T>C (p.Phe50Ser)
|
rs772475317
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.153G>A (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>C (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.153G>T (p.Pro51=)
|
|
|
NM_030943.4(AMN):c.155C>G (p.Ala52Gly)
|
|
|
NM_030943.4(AMN):c.156G>A (p.Ala52=)
|
|
|
NM_030943.4(AMN):c.162+12C>G
|
|
|
NM_030943.4(AMN):c.162+12C>T
|
|
|
NM_030943.4(AMN):c.162+13G>A
|
|
|
NM_030943.4(AMN):c.162+15C>T
|
|
|
NM_030943.4(AMN):c.162+19G>A
|
|
|
NM_030943.4(AMN):c.162+8G>A
|
|
|
NM_030943.4(AMN):c.163-11T>C
|
|
|
NM_030943.4(AMN):c.163-13C>A
|
|
|
NM_030943.4(AMN):c.163-16C>T
|
|
|
NM_030943.4(AMN):c.163-20G>A
|
|
|
NM_030943.4(AMN):c.163-3C>T
|
|
|
NM_030943.4(AMN):c.163-6C>T
|
|
|
NM_030943.4(AMN):c.163-7C>T
|
|
|
NM_030943.4(AMN):c.168G>A (p.Val56=)
|
|
|
NM_030943.4(AMN):c.170C>G (p.Ser57Ter)
|
|
|
NM_030943.4(AMN):c.177G>A (p.Leu59=)
|
|
|
NM_030943.4(AMN):c.180G>C (p.Val60=)
|
|
|
NM_030943.4(AMN):c.184G>A (p.Glu62Lys)
|
|
|
NM_030943.4(AMN):c.192C>T (p.His64=)
|
|
|
NM_030943.4(AMN):c.195C>T (p.Ala65=)
|
|
|
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
|
|
|
NM_030943.4(AMN):c.206T>A (p.Met69Lys)
|
rs375774640
|
|
NM_030943.4(AMN):c.206T>C (p.Met69Thr)
|
|
|
NM_030943.4(AMN):c.207+11G>A
|
|
|
NM_030943.4(AMN):c.207+11G>C
|
|
|
NM_030943.4(AMN):c.207+12C>A
|
|
|
NM_030943.4(AMN):c.207+13T>C
|
|
|
NM_030943.4(AMN):c.207+14G>T
|
|
|
NM_030943.4(AMN):c.207+17A>C
|
|
|
NM_030943.4(AMN):c.207+1G>A
|
|
|
NM_030943.4(AMN):c.207+8C>T
|
|
|
NM_030943.4(AMN):c.207G>A (p.Met69Ile)
|
|
|
NM_030943.4(AMN):c.208-13_211del
|
|
|
NM_030943.4(AMN):c.208-14C>T
|
|
|
NM_030943.4(AMN):c.208-15C>G
|
|
|
NM_030943.4(AMN):c.208-17G>T
|
|
|
NM_030943.4(AMN):c.208-18dup
|
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.208-20T>C
|
|
|
NM_030943.4(AMN):c.213G>A (p.Leu71=)
|
|
|
NM_030943.4(AMN):c.219G>A (p.Leu73=)
|
|
|
NM_030943.4(AMN):c.21C>A (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.21C>T (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.223_226dup (p.Glu76fs)
|
|
|
NM_030943.4(AMN):c.235C>T (p.Leu79=)
|
|
|
NM_030943.4(AMN):c.240T>C (p.Ala80=)
|
|
|
NM_030943.4(AMN):c.246A>G (p.Gly82=)
|
|
|
NM_030943.4(AMN):c.249C>A (p.Ala83=)
|
|
|
NM_030943.4(AMN):c.249C>G (p.Ala83=)
|
rs748549145
|
|
NM_030943.4(AMN):c.249C>T (p.Ala83=)
|
|
|
NM_030943.4(AMN):c.24G>T (p.Leu8=)
|
|
|
NM_030943.4(AMN):c.250G>A (p.Gly84Arg)
|
|
|
NM_030943.4(AMN):c.258C>T (p.Gly86=)
|
|
|
NM_030943.4(AMN):c.264A>G (p.Ser88=)
|
|
|
NM_030943.4(AMN):c.268G>A (p.Val90Met)
|
|
|
NM_030943.4(AMN):c.276G>C (p.Ser92=)
|
|
|
NM_030943.4(AMN):c.280C>T (p.Leu94=)
|
|
|
NM_030943.4(AMN):c.282G>A (p.Leu94=)
|
|
|
NM_030943.4(AMN):c.290G>A (p.Gly97Asp)
|
|
|
NM_030943.4(AMN):c.294G>A (p.Ala98=)
|
|
|
NM_030943.4(AMN):c.294G>C (p.Ala98=)
|
|
|
NM_030943.4(AMN):c.295+11C>T
|
|
|
NM_030943.4(AMN):c.295+15C>T
|
|
|
NM_030943.4(AMN):c.295+17G>A
|
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.295+20G>A
|
|
|
NM_030943.4(AMN):c.295+7C>G
|
|
|
NM_030943.4(AMN):c.295+7C>T
|
|
|
NM_030943.4(AMN):c.295+8G>A
|
|
|
NM_030943.4(AMN):c.295+9G>A
|
|
|
NM_030943.4(AMN):c.296-11C>T
|
|
|
NM_030943.4(AMN):c.296-16A>T
|
|
|
NM_030943.4(AMN):c.296-1G>A
|
|
|
NM_030943.4(AMN):c.296-6del
|
|
|
NM_030943.4(AMN):c.296-9C>G
|
|
|
NM_030943.4(AMN):c.296-9C>T
|
rs373204347
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_030943.4(AMN):c.306C>A (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.306C>T (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.316G>A (p.Asp106Asn)
|
|
|
NM_030943.4(AMN):c.325C>T (p.Arg109Cys)
|
|
|
NM_030943.4(AMN):c.333C>T (p.Ser111=)
|
|
|
NM_030943.4(AMN):c.340G>A (p.Asp114Asn)
|
|
|
NM_030943.4(AMN):c.349C>T (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.34C>T (p.Gln12Ter)
|
|
|
NM_030943.4(AMN):c.351G>C (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.357C>T (p.Arg119=)
|
|
|
NM_030943.4(AMN):c.35del (p.Gln12fs)
|
rs769770182
|
|
NM_030943.4(AMN):c.365A>G (p.Asp122Gly)
|
|
|
NM_030943.4(AMN):c.371C>T (p.Ala124Val)
|
|
|
NM_030943.4(AMN):c.375T>C (p.Pro125=)
|
|
|
NM_030943.4(AMN):c.378C>T (p.Gly126=)
|
|
|
NM_030943.4(AMN):c.381C>G (p.Leu127=)
|
|
|
NM_030943.4(AMN):c.384C>T (p.Phe128=)
|
|
|
NM_030943.4(AMN):c.387C>T (p.Phe129=)
|
|
|
NM_030943.4(AMN):c.390G>A (p.Val130=)
|
|
|
NM_030943.4(AMN):c.395C>T (p.Ala132Val)
|
|
|
NM_030943.4(AMN):c.396C>T (p.Ala132=)
|
|
|
NM_030943.4(AMN):c.411C>A (p.Cys137Ter)
|
|
|
NM_030943.4(AMN):c.414C>T (p.Arg138=)
|
|
|
NM_030943.4(AMN):c.423C>T (p.Asp141=)
|
rs2139309288
|
|
NM_030943.4(AMN):c.429C>T (p.Phe143=)
|
|
|
NM_030943.4(AMN):c.43+10G>A
|
|
|
NM_030943.4(AMN):c.43+11A>G
|
|
|
NM_030943.4(AMN):c.43+15C>T
|
|
|
NM_030943.4(AMN):c.43+16A>G
|
|
|
NM_030943.4(AMN):c.43+17C>G
|
|
|
NM_030943.4(AMN):c.43+17C>T
|
|
|
NM_030943.4(AMN):c.43+17_43+37del
|
|
|
NM_030943.4(AMN):c.43+18C>T
|
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.43+5G>A
|
|
|
NM_030943.4(AMN):c.43+7C>T
|
|
|
NM_030943.4(AMN):c.43+8G>A
|
rs1891084049
|
|
NM_030943.4(AMN):c.43+9G>A
|
|
|
NM_030943.4(AMN):c.43G>T (p.Ala15Ser)
|
|
|
NM_030943.4(AMN):c.44-15T>C
|
|
|
NM_030943.4(AMN):c.44-1G>A
|
|
|
NM_030943.4(AMN):c.44-20C>T
|
|
|
NM_030943.4(AMN):c.44-2A>T
|
|
|
NM_030943.4(AMN):c.44-4C>T
|
|
|
NM_030943.4(AMN):c.44-6C>T
|
|
|
NM_030943.4(AMN):c.44-7_44-5del
|
rs774101952
|
|
NM_030943.4(AMN):c.44-9C>G
|
|
|
NM_030943.4(AMN):c.440G>C (p.Ser147Thr)
|
|
|
NM_030943.4(AMN):c.441T>C (p.Ser147=)
|
|
|
NM_030943.4(AMN):c.454G>A (p.Val152Met)
|
|
|
NM_030943.4(AMN):c.456G>A (p.Val152=)
|
|
|
NM_030943.4(AMN):c.459G>C (p.Gly153=)
|
rs1286684210
|
|
NM_030943.4(AMN):c.462C>T (p.Leu154=)
|
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.46C>T (p.Leu16=)
|
|
|
NM_030943.4(AMN):c.473C>T (p.Ala158Val)
|
|
|
NM_030943.4(AMN):c.480C>A (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.480C>T (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.481G>T (p.Val161Leu)
|
|
|
NM_030943.4(AMN):c.491_492delinsAG (p.Arg164Gln)
|
|
|
NM_030943.4(AMN):c.493dup (p.Ser165fs)
|
|
|
NM_030943.4(AMN):c.4G>A (p.Gly2Ser)
|
|
|
NM_030943.4(AMN):c.504T>A (p.Ala168=)
|
|
|
NM_030943.4(AMN):c.509del (p.Gly170fs)
|
|
|
NM_030943.4(AMN):c.510C>A (p.Gly170=)
|
|
|
NM_030943.4(AMN):c.513+14G>A
|
|
|
NM_030943.4(AMN):c.513+16A>C
|
|
|
NM_030943.4(AMN):c.513+19del
|
|
|
NM_030943.4(AMN):c.513+2T>C
|
|
|
NM_030943.4(AMN):c.513+2del
|
|
|
NM_030943.4(AMN):c.513+8C>G
|
|
|
NM_030943.4(AMN):c.513+8C>T
|
rs764938272
|
|
NM_030943.4(AMN):c.514-15C>A
|
|
|
NM_030943.4(AMN):c.514-15C>T
|
|
|
NM_030943.4(AMN):c.514-19G>A
|
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.514-34G>C
|
rs144077391
|
|
NM_030943.4(AMN):c.514-4G>C
|
|
|
NM_030943.4(AMN):c.514-4G>T
|
|
|
NM_030943.4(AMN):c.514-7C>T
|
|
|
NM_030943.4(AMN):c.516G>C (p.Thr172=)
|
|
|
NM_030943.4(AMN):c.522G>A (p.Thr174=)
|
|
|
NM_030943.4(AMN):c.525C>T (p.Arg175=)
|
|
|
NM_030943.4(AMN):c.526G>A (p.Asp176Asn)
|
|
|
NM_030943.4(AMN):c.531G>C (p.Glu177Asp)
|
|
|
NM_030943.4(AMN):c.534_535dup (p.Leu179fs)
|
|
|
NM_030943.4(AMN):c.535C>A (p.Leu179Met)
|
|
|
NM_030943.4(AMN):c.545del (p.Phe182fs)
|
|
|
NM_030943.4(AMN):c.554C>T (p.Ser185Phe)
|
|
|
NM_030943.4(AMN):c.555C>T (p.Ser185=)
|
|
|
NM_030943.4(AMN):c.556C>A (p.Arg186Ser)
|
|
|
NM_030943.4(AMN):c.557G>C (p.Arg186Pro)
|
|
|
NM_030943.4(AMN):c.558C>T (p.Arg186=)
|
|
|
NM_030943.4(AMN):c.561G>A (p.Ala187=)
|
|
|
NM_030943.4(AMN):c.56C>T (p.Ala19Val)
|
rs979571435
|
|
NM_030943.4(AMN):c.56_57dup (p.Val20fs)
|
|
|
NM_030943.4(AMN):c.579C>T (p.His193=)
|
|
|
NM_030943.4(AMN):c.57G>A (p.Ala19=)
|
rs145328398
|
|
NM_030943.4(AMN):c.582G>T (p.Gly194=)
|
|
|
NM_030943.4(AMN):c.587del (p.Gly196fs)
|
|
|
NM_030943.4(AMN):c.58del (p.Val20fs)
|
|
|
NM_030943.4(AMN):c.591G>T (p.Ala197=)
|
|
|
NM_030943.4(AMN):c.597C>T (p.Ser199=)
|
|
|
NM_030943.4(AMN):c.600G>A (p.Val200=)
|
|
|
NM_030943.4(AMN):c.603C>T (p.Gly201=)
|
|
|
NM_030943.4(AMN):c.618G>A (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.618G>C (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.627G>A (p.Ser209=)
|
|
|
NM_030943.4(AMN):c.62C>T (p.Ser21Phe)
|
|
|
NM_030943.4(AMN):c.630C>T (p.Gly210=)
|
|
|
NM_030943.4(AMN):c.633C>T (p.Cys211=)
|
|
|
NM_030943.4(AMN):c.634G>T (p.Val212Phe)
|
|
|
NM_030943.4(AMN):c.651+10G>A
|
|
|
NM_030943.4(AMN):c.651+12C>A
|
|
|
NM_030943.4(AMN):c.651+13G>T
|
|
|
NM_030943.4(AMN):c.651+15A>C
|
|
|
NM_030943.4(AMN):c.651+16G>T
|
|
|
NM_030943.4(AMN):c.651+1G>T
|
|
|
NM_030943.4(AMN):c.651+9G>A
|
|
|
NM_030943.4(AMN):c.652-10C>T
|
|
|
NM_030943.4(AMN):c.652-12C>T
|
|
|
NM_030943.4(AMN):c.652-14G>A
|
|
|
NM_030943.4(AMN):c.652-14G>T
|
rs949145775
|
|
NM_030943.4(AMN):c.652-20A>G
|
|
|
NM_030943.4(AMN):c.652-2A>G
|
|
|
NM_030943.4(AMN):c.652-4C>T
|
|
|
NM_030943.4(AMN):c.660G>A (p.Pro220=)
|
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.664_669dup (p.Cys223_Ala224insIleCys)
|
|
|
NM_030943.4(AMN):c.669C>A (p.Cys223Ter)
|
|
|
NM_030943.4(AMN):c.672G>A (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.672G>T (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.678G>A (p.Leu226=)
|
|
|
NM_030943.4(AMN):c.680T>A (p.Leu227His)
|
|
|
NM_030943.4(AMN):c.682C>G (p.Gln228Glu)
|
rs1163522093
|
|
NM_030943.4(AMN):c.682C>T (p.Gln228Ter)
|
|
|
NM_030943.4(AMN):c.683_705dup (p.Gln236fs)
|
|
|
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)
|
rs386834175
|
|
NM_030943.4(AMN):c.685C>A (p.Pro229Thr)
|
|
|
NM_030943.4(AMN):c.687C>T (p.Pro229=)
|
|
|
NM_030943.4(AMN):c.690G>A (p.Leu230=)
|
|
|
NM_030943.4(AMN):c.693C>T (p.Gly231=)
|
|
|
NM_030943.4(AMN):c.701G>T (p.Cys234Phe)
|
rs386834176
|
|
NM_030943.4(AMN):c.702C>T (p.Cys234=)
|
|
|
NM_030943.4(AMN):c.705C>A (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.705C>G (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.707del (p.Gln236fs)
|
|
|
NM_030943.4(AMN):c.711C>T (p.Ala237=)
|
|
|
NM_030943.4(AMN):c.712G>A (p.Ala238Thr)
|
|
|
NM_030943.4(AMN):c.723C>T (p.Ser241=)
|
|
|
NM_030943.4(AMN):c.730C>T (p.Arg244Trp)
|
|
|
NM_030943.4(AMN):c.732G>A (p.Arg244=)
|
|
|
NM_030943.4(AMN):c.736C>T (p.Gln246Ter)
|
|
|
NM_030943.4(AMN):c.73del (p.Val25fs)
|
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_030943.4(AMN):c.74T>C (p.Val25Ala)
|
|
|
NM_030943.4(AMN):c.753C>T (p.Asp251=)
|
|
|
NM_030943.4(AMN):c.754C>T (p.Leu252Phe)
|
|
|
NM_030943.4(AMN):c.756C>A (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.756C>T (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.75C>A (p.Val25=)
|
|
|
NM_030943.4(AMN):c.75C>T (p.Val25=)
|
|
|
NM_030943.4(AMN):c.760+12C>T
|
|
|
NM_030943.4(AMN):c.760+15C>T
|
|
|
NM_030943.4(AMN):c.760+16G>A
|
|
|
NM_030943.4(AMN):c.760+18G>A
|
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_030943.4(AMN):c.760+8C>T
|
|
|
NM_030943.4(AMN):c.760+9C>T
|
|
|
NM_030943.4(AMN):c.761-14C>T
|
|
|
NM_030943.4(AMN):c.761-15dup
|
|
|
NM_030943.4(AMN):c.761-20C>A
|
|
|
NM_030943.4(AMN):c.761-20C>T
|
|
|
NM_030943.4(AMN):c.761-4G>A
|
|
|
NM_030943.4(AMN):c.761-8C>G
|
|
|
NM_030943.4(AMN):c.761-9C>A
|
|
|
NM_030943.4(AMN):c.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.762A>G (p.Gly254=)
|
|
|
NM_030943.4(AMN):c.775C>T (p.Leu259=)
|
|
|
NM_030943.4(AMN):c.780C>A (p.Thr260=)
|
|
|
NM_030943.4(AMN):c.783C>T (p.His261=)
|
|
|
NM_030943.4(AMN):c.789C>T (p.Pro263=)
|
|
|
NM_030943.4(AMN):c.78del (p.Asn27fs)
|
|
|
NM_030943.4(AMN):c.791dup (p.Phe265fs)
|
rs2139311251
|
|
NM_030943.4(AMN):c.798C>T (p.Asp266=)
|
|
|
NM_030943.4(AMN):c.7G>C (p.Val3Leu)
|
|
|
NM_030943.4(AMN):c.800T>A (p.Leu267Gln)
|
|
|
NM_030943.4(AMN):c.801G>C (p.Leu267=)
|
rs1163660664
|
|
NM_030943.4(AMN):c.806G>T (p.Arg269Leu)
|
|
|
NM_030943.4(AMN):c.816G>A (p.Ala272=)
|
|
|
NM_030943.4(AMN):c.81C>T (p.Asn27=)
|
|
|
NM_030943.4(AMN):c.823C>G (p.Leu275Val)
|
|
|
NM_030943.4(AMN):c.831C>T (p.Thr277=)
|
|
|
NM_030943.4(AMN):c.835C>A (p.Leu279Met)
|
|
|
NM_030943.4(AMN):c.839G>C (p.Gly280Ala)
|
|
|
NM_030943.4(AMN):c.843+10C>A
|
|
|
NM_030943.4(AMN):c.843+11del
|
rs1467152225
|
|
NM_030943.4(AMN):c.843+13C>G
|
|
|
NM_030943.4(AMN):c.843+13C>T
|
|
|
NM_030943.4(AMN):c.843+14G>A
|
|
|
NM_030943.4(AMN):c.843+15C>T
|
|
|
NM_030943.4(AMN):c.843+20A>G
|
|
|
NM_030943.4(AMN):c.843+7G>A
|
|
|
NM_030943.4(AMN):c.844-11C>T
|
|
|
NM_030943.4(AMN):c.844-13T>A
|
|
|
NM_030943.4(AMN):c.844-15C>T
|
|
|
NM_030943.4(AMN):c.844-17C>G
|
|
|
NM_030943.4(AMN):c.844-17C>T
|
|
|
NM_030943.4(AMN):c.844-18C>A
|
|
|
NM_030943.4(AMN):c.844-3dup
|
|
|
NM_030943.4(AMN):c.855C>G (p.His285Gln)
|
|
|
NM_030943.4(AMN):c.855C>T (p.His285=)
|
|
|
NM_030943.4(AMN):c.861G>C (p.Leu287=)
|
|
|
NM_030943.4(AMN):c.862C>T (p.Gln288Ter)
|
|
|
NM_030943.4(AMN):c.864G>T (p.Gln288His)
|
|
|
NM_030943.4(AMN):c.870C>T (p.Ala290=)
|
|
|
NM_030943.4(AMN):c.873_874dup (p.Ser292fs)
|
rs2139311797
|
|
NM_030943.4(AMN):c.888C>G (p.Arg296=)
|
|
|
NM_030943.4(AMN):c.890C>A (p.Ser297Ter)
|
|
|
NM_030943.4(AMN):c.890C>T (p.Ser297Leu)
|
|
|
NM_030943.4(AMN):c.892T>C (p.Ser298Pro)
|
|
|
NM_030943.4(AMN):c.895C>T (p.Arg299Trp)
|
|
|
NM_030943.4(AMN):c.914C>T (p.Thr305Met)
|
|
|
NM_030943.4(AMN):c.915G>A (p.Thr305=)
|
|
|
NM_030943.4(AMN):c.918G>A (p.Glu306=)
|
|
|
NM_030943.4(AMN):c.91G>A (p.Asp31Asn)
|
|
|
NM_030943.4(AMN):c.921C>T (p.Ile307=)
|
|
|
NM_030943.4(AMN):c.939_940delinsAT (p.Asn314Tyr)
|
|
|
NM_030943.4(AMN):c.945G>T (p.Gly315=)
|
|
|
NM_030943.4(AMN):c.948del (p.Glu317fs)
|
rs2139312056
|
|
NM_030943.4(AMN):c.949G>C (p.Glu317Gln)
|
|
|
NM_030943.4(AMN):c.954A>C (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.954A>G (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.957C>A (p.Gly319=)
|
|
|
NM_030943.4(AMN):c.967C>A (p.Arg323=)
|
|
|
NM_030943.4(AMN):c.967C>T (p.Arg323Trp)
|
|
|
NM_030943.4(AMN):c.968_975del (p.Arg323fs)
|
|
|
NM_030943.4(AMN):c.96C>T (p.Val32=)
|
|
|
NM_030943.4(AMN):c.971T>C (p.Leu324Pro)
|
|
|
NM_030943.4(AMN):c.972G>A (p.Leu324=)
|
|
|
NM_030943.4(AMN):c.974_977dup (p.Ala327fs)
|
rs386834179
|
|
NM_030943.4(AMN):c.975C>T (p.Ala325=)
|
|
|
NM_030943.4(AMN):c.980C>T (p.Ala327Val)
|
|
|
NM_030943.4(AMN):c.987G>A (p.Leu329=)
|
|
|
NM_030943.4(AMN):c.990G>A (p.Ala330=)
|
|
|
NM_030943.4(AMN):c.993C>A (p.Asp331Glu)
|
|
|
NM_030943.4(AMN):c.998C>G (p.Ala333Gly)
|
|
|
NM_052845.4(MMAB):c.*1121C>T
|
rs562046988
|
|
NM_052845.4(MMAB):c.*1400G>A
|
rs1883946986
|
|
NM_052845.4(MMAB):c.*2150A>G
|
rs781473185
|
|
NM_052845.4(MMAB):c.*2326C>G
|
rs1210681751
|
|
NM_052845.4(MMAB):c.*2392C>T
|
rs1883900272
|
|
NM_052845.4(MMAB):c.*2736G>C
|
rs747163137
|
|
NM_052845.4(MMAB):c.*3027T>C
|
rs1883879729
|
|
NM_052845.4(MMAB):c.*3152A>T
|
rs886048915
|
|
NM_052845.4(MMAB):c.*3260G>A
|
rs1883871954
|
|
NM_052845.4(MMAB):c.*3296G>A
|
rs777939885
|
|
NM_052845.4(MMAB):c.*348T>G
|
rs1883987573
|
|
NM_052845.4(MMAB):c.*422T>C
|
rs1883979155
|
|
NM_052845.4(MMAB):c.*710C>T
|
rs538702791
|
|
NM_052845.4(MMAB):c.-11C>G
|
rs1228106972
|
|
NM_052845.4(MMAB):c.-9G>T
|
rs554831769
|
|
NM_052845.4(MMAB):c.102C>T (p.Ser34=)
|
|
|
NM_052845.4(MMAB):c.105C>T (p.Arg35=)
|
rs1884735595
|
|
NM_052845.4(MMAB):c.107del (p.Gly36fs)
|
rs1555276160
|
|
NM_052845.4(MMAB):c.108C>A (p.Gly36=)
|
|
|
NM_052845.4(MMAB):c.108C>T (p.Gly36=)
|
rs2136213363
|
|
NM_052845.4(MMAB):c.111T>G (p.Pro37=)
|
|
|
NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)
|
|
|
NM_052845.4(MMAB):c.116del (p.Gly39fs)
|
|
|
NM_052845.4(MMAB):c.126C>T (p.Asp42=)
|
rs2136213327
|
|
NM_052845.4(MMAB):c.132C>T (p.Asp44=)
|
rs747649185
|
|
NM_052845.4(MMAB):c.134+10T>G
|
|
|
NM_052845.4(MMAB):c.134+14G>A
|
|
|
NM_052845.4(MMAB):c.134+16del
|
|
|
NM_052845.4(MMAB):c.134+1G>T
|
|
|
NM_052845.4(MMAB):c.134+20G>A
|
|
|
NM_052845.4(MMAB):c.134+2T>A
|
|
|
NM_052845.4(MMAB):c.134+7G>A
|
|
|
NM_052845.4(MMAB):c.134G>A (p.Arg45Lys)
|
|
|
NM_052845.4(MMAB):c.135-12A>T
|
|
|
NM_052845.4(MMAB):c.135-19G>A
|
|
|
NM_052845.4(MMAB):c.135-1G>A
|
rs1566137903
|
|
NM_052845.4(MMAB):c.135-8C>T
|
rs2136210870
|
|
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter)
|
|
|
NM_052845.4(MMAB):c.144T>G (p.Pro48=)
|
rs2136210832
|
|
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
|
|
|
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
|
rs2136210801
|
|
NM_052845.4(MMAB):c.165C>T (p.Ile55=)
|
rs2136210798
|
|
NM_052845.4(MMAB):c.16C>T (p.Leu6=)
|
rs1190176115
|
|
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)
|
rs2136210789
|
|
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
|
|
|
NM_052845.4(MMAB):c.189A>G (p.Gly63=)
|
rs2136210776
|
|
NM_052845.4(MMAB):c.18G>A (p.Leu6=)
|
|
|
NM_052845.4(MMAB):c.196+13C>G
|
|
|
NM_052845.4(MMAB):c.196+17T>G
|
|
|
NM_052845.4(MMAB):c.196+9G>A
|
|
|
NM_052845.4(MMAB):c.197-12T>C
|
|
|
NM_052845.4(MMAB):c.197-14A>G
|
|
|
NM_052845.4(MMAB):c.197-15C>A
|
|
|
NM_052845.4(MMAB):c.197-1G>A
|
rs763935916
|
|
NM_052845.4(MMAB):c.197-2A>G
|
|
|
NM_052845.4(MMAB):c.197-2del
|
rs1555275604
|
|
NM_052845.4(MMAB):c.197-7T>C
|
|
|
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])
|
rs770077320
|
|
NM_052845.4(MMAB):c.1A>C (p.Met1Leu)
|
rs1884749143
|
|
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
|
rs147297426
|
|
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
|
|
|
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
|
rs2136208377
|
|
NM_052845.4(MMAB):c.222A>G (p.Glu74=)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp)
|
rs1389815526
|
|
NM_052845.4(MMAB):c.225G>A (p.Arg75=)
|
rs267603297
|
|
NM_052845.4(MMAB):c.23del (p.Ser8fs)
|
rs2136213668
|
|
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
|
|
|
NM_052845.4(MMAB):c.243A>G (p.Gln81=)
|
rs1473011297
|
|
NM_052845.4(MMAB):c.245del (p.Val82fs)
|
|
|
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
|
rs1185132313
|
|
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu)
|
rs2136208348
|
|
NM_052845.4(MMAB):c.24C>T (p.Ser8=)
|
|
|
NM_052845.4(MMAB):c.250G>A (p.Glu84Lys)
|
|
|
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
|
|
|
NM_052845.4(MMAB):c.258G>A (p.Val86=)
|
rs2136208331
|
|
NM_052845.4(MMAB):c.266del (p.Thr89fs)
|
|
|
NM_052845.4(MMAB):c.27T>C (p.Arg9=)
|
rs1311011214
|
|
NM_052845.4(MMAB):c.27T>G (p.Arg9=)
|
|
|
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)
|
rs864309509
|
|
NM_052845.4(MMAB):c.28C>A (p.Leu10Ile)
|
|
|
NM_052845.4(MMAB):c.290+12A>G
|
|
|
NM_052845.4(MMAB):c.290+19G>T
|
|
|
NM_052845.4(MMAB):c.290+1G>A
|
rs1351673148
|
|
NM_052845.4(MMAB):c.290+3A>G
|
|
|
NM_052845.4(MMAB):c.290+7G>C
|
|
|
NM_052845.4(MMAB):c.290+8G>T
|
|
|
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)
|
rs864309511
|
|
NM_052845.4(MMAB):c.291-15C>G
|
|
|
NM_052845.4(MMAB):c.291-16del
|
|
|
NM_052845.4(MMAB):c.291-18T>C
|
|
|
NM_052845.4(MMAB):c.291-1G>T
|
rs199971687
|
|
NM_052845.4(MMAB):c.291-3dup
|
rs2136203965
|
|
NM_052845.4(MMAB):c.291-5C>G
|
|
|
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
|
|
|
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
|
rs2136203950
|
|
NM_052845.4(MMAB):c.2T>A (p.Met1Lys)
|
|
|
NM_052845.4(MMAB):c.2T>C (p.Met1Thr)
|
rs869320655
|
|
NM_052845.4(MMAB):c.2T>G (p.Met1Arg)
|
rs869320655
|
|
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
|
rs757088429
|
|
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
|
|
|
NM_052845.4(MMAB):c.32del (p.Gly11fs)
|
|
|
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
|
|
|
NM_052845.4(MMAB):c.330del (p.Phe110fs)
|
rs2136203888
|
|
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter)
|
|
|
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
|
rs2136203868
|
|
NM_052845.4(MMAB):c.33C>T (p.Gly11=)
|
|
|
NM_052845.4(MMAB):c.342T>A (p.Leu114=)
|
rs2136203863
|
|
NM_052845.4(MMAB):c.348+11C>T
|
|
|
NM_052845.4(MMAB):c.348+20C>G
|
|
|
NM_052845.4(MMAB):c.348+2_348+3del
|
rs2136203848
|
|
NM_052845.4(MMAB):c.349-14C>G
|
|
|
NM_052845.4(MMAB):c.349-1G>C
|
rs864309510
|
|
NM_052845.4(MMAB):c.349-20C>T
|
|
|
NM_052845.4(MMAB):c.349-4C>G
|
rs2136199982
|
|
NM_052845.4(MMAB):c.349-5C>G
|
|
|
NM_052845.4(MMAB):c.349-5C>T
|
rs1228758269
|
|
NM_052845.4(MMAB):c.349-6C>T
|
|
|
NM_052845.4(MMAB):c.349-8C>A
|
|
|
NM_052845.4(MMAB):c.349-8C>G
|
rs1468191738
|
|
NM_052845.4(MMAB):c.349-8C>T
|
rs1468191738
|
|
NM_052845.4(MMAB):c.349-8dup
|
rs759049347
|
|
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter)
|
|
|
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
|
|
|
NM_052845.4(MMAB):c.367G>A (p.Asp123Asn)
|
|
|
NM_052845.4(MMAB):c.367del (p.Asp123fs)
|
rs1387128853
|
|
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
|
rs749452007
|
|
NM_052845.4(MMAB):c.379G>A (p.Ala127Thr)
|
|
|
NM_052845.4(MMAB):c.37_57delinsCAA (p.Gly13_Arg19delinsGln)
|
|
|
NM_052845.4(MMAB):c.381C>T (p.Ala127=)
|
rs1204546700
|
|
NM_052845.4(MMAB):c.386C>T (p.Ala129Val)
|
|
|
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del)
|
rs1555274650
|
|
NM_052845.4(MMAB):c.39G>T (p.Gly13=)
|
|
|
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
|
|
|
NM_052845.4(MMAB):c.406C>A (p.Arg136=)
|
rs763783083
|
|
NM_052845.4(MMAB):c.406C>T (p.Arg136Trp)
|
|
|
NM_052845.4(MMAB):c.407G>A (p.Arg136Gln)
|
rs796051994
|
|
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
|
rs760995089
|
|
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
|
|
|
NM_052845.4(MMAB):c.414T>G (p.Ala138=)
|
rs2136199754
|
|
NM_052845.4(MMAB):c.417C>T (p.His139=)
|
rs2136199746
|
|
NM_052845.4(MMAB):c.418T>C (p.Leu140=)
|
rs768054177
|
|
NM_052845.4(MMAB):c.421+14T>A
|
rs760915792
|
|
NM_052845.4(MMAB):c.421+18G>C
|
|
|
NM_052845.4(MMAB):c.421+1G>A
|
rs2136199734
|
|
NM_052845.4(MMAB):c.421+7C>A
|
|
|
NM_052845.4(MMAB):c.422-19del
|
|
|
NM_052845.4(MMAB):c.422-1G>A
|
|
|
NM_052845.4(MMAB):c.422-1G>C
|
rs2136199436
|
|
NM_052845.4(MMAB):c.422-5_422-3del
|
rs2136199438
|
|
NM_052845.4(MMAB):c.422A>G (p.Lys141Arg)
|
|
|
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
|
|
|
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
|
|
|
NM_052845.4(MMAB):c.42C>T (p.Ser14=)
|
|
|
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
|
|
|
NM_052845.4(MMAB):c.432G>A (p.Thr144=)
|
rs200127370
|
|
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
|
|
|
NM_052845.4(MMAB):c.43C>T (p.Arg15Cys)
|
rs921232728
|
|
NM_052845.4(MMAB):c.441G>A (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
|
rs1038979872
|
|
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
|
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter)
|
rs2136199292
|
|
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)
|
rs1392513631
|
|
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter)
|
|
|
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter)
|
rs2136199270
|
|
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
|
rs1884201610
|
|
NM_052845.4(MMAB):c.475A>C (p.Lys159Gln)
|
|
|
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
|
|
|
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)
|
rs2136199221
|
|
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe)
|
rs1393437649
|
|
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
|
|
|
NM_052845.4(MMAB):c.502dup (p.Thr168fs)
|
|
|
NM_052845.4(MMAB):c.511A>G (p.Ile171Val)
|
|
|
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
|
|
|
NM_052845.4(MMAB):c.513C>T (p.Ile171=)
|
rs2136199131
|
|
NM_052845.4(MMAB):c.519+10G>A
|
rs771725706
|
|
NM_052845.4(MMAB):c.519+13C>T
|
|
|
NM_052845.4(MMAB):c.519+16G>A
|
|
|
NM_052845.4(MMAB):c.519+17C>T
|
rs1884195985
|
|
NM_052845.4(MMAB):c.519+19T>A
|
|
|
NM_052845.4(MMAB):c.519+1G>A
|
rs1592998207
|
|
NM_052845.4(MMAB):c.519dup (p.Ser174fs)
|
|
|
NM_052845.4(MMAB):c.520-15C>T
|
|
|
NM_052845.4(MMAB):c.520-18G>A
|
|
|
NM_052845.4(MMAB):c.520-19T>C
|
|
|
NM_052845.4(MMAB):c.520-20A>G
|
|
|
NM_052845.4(MMAB):c.520-4T>C
|
|
|
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
|
rs374802787
|
|
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)
|
|
|
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr)
|
rs1439180009
|
|
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)
|
|
|
NM_052845.4(MMAB):c.542C>G (p.Ala181Gly)
|
|
|
NM_052845.4(MMAB):c.545_570del (p.Leu182fs)
|
|
|
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs)
|
|
|
NM_052845.4(MMAB):c.54G>A (p.Leu18=)
|
rs1884741296
|
|
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
|
rs767774574
|
|
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
|
|
|
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
|
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
|
|
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)
|
rs773059864
|
|
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro)
|
|
|
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)
|
rs2136198361
|
|
NM_052845.4(MMAB):c.55_57delinsTAA (p.Arg19Ter)
|
|
|
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)
|
rs2136198351
|
|
NM_052845.4(MMAB):c.561C>G (p.Ala187=)
|
rs370773720
|
|
NM_052845.4(MMAB):c.563T>G (p.Val188Gly)
|
rs869320654
|
|
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)
|
rs1555274496
|
|
NM_052845.4(MMAB):c.564G>A (p.Val188=)
|
|
|
NM_052845.4(MMAB):c.565_577del (p.Cys189fs)
|
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
|
|
|
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)
|
rs36013132
|
|
NM_052845.4(MMAB):c.56_60delinsAAGGT (p.Arg19Gln)
|
|
|
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
|
|
|
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly)
|
|
|
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro)
|
|
|
NM_052845.4(MMAB):c.573G>C (p.Arg191=)
|
rs2136198226
|
|
NM_052845.4(MMAB):c.573_577del (p.Ala192fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs)
|
rs1555274497
|
|
NM_052845.4(MMAB):c.574_577del (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.574dup (p.Ala192fs)
|
|
|
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
|
|
|
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
|
rs757562796
|
|
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln)
|
rs749758687
|
|
NM_052845.4(MMAB):c.577G>T (p.Glu193Ter)
|
|
|
NM_052845.4(MMAB):c.578_584dup (p.Val196fs)
|
rs1555274493
|
|
NM_052845.4(MMAB):c.579G>A (p.Glu193=)
|
rs2136198146
|
|
NM_052845.4(MMAB):c.57C>G (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.57C>T (p.Arg19=)
|
rs10774774
|
|
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly)
|
rs2136198139
|
|
NM_052845.4(MMAB):c.581_582del (p.Arg194fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)
|
rs1592997663
|
|
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)
|
rs1057519147
|
|
NM_052845.4(MMAB):c.583_584+18del
|
rs1555274484
|
|
NM_052845.4(MMAB):c.584+12G>A
|
|
|
NM_052845.4(MMAB):c.584+14_584+33del
|
rs1555274482
|
|
NM_052845.4(MMAB):c.584+2T>A
|
|
|
NM_052845.4(MMAB):c.584+2T>C
|
|
|
NM_052845.4(MMAB):c.584+8G>C
|
|
|
NM_052845.4(MMAB):c.584+9G>C
|
|
|
NM_052845.4(MMAB):c.585-10C>T
|
rs375474421
|
|
NM_052845.4(MMAB):c.585-12C>T
|
|
|
NM_052845.4(MMAB):c.585-16T>A
|
|
|
NM_052845.4(MMAB):c.585-16T>C
|
|
|
NM_052845.4(MMAB):c.585-17G>A
|
|
|
NM_052845.4(MMAB):c.585-18T>C
|
|
|
NM_052845.4(MMAB):c.585-2A>C
|
rs1555274254
|
|
NM_052845.4(MMAB):c.585-4C>G
|
rs2136195288
|
|
NM_052845.4(MMAB):c.585-9C>T
|
|
|
NM_052845.4(MMAB):c.590T>C (p.Val197Ala)
|
|
|
NM_052845.4(MMAB):c.591G>A (p.Val197=)
|
rs2136195257
|
|
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu)
|
rs886048927
|
|
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
|
|
|
NM_052845.4(MMAB):c.599dup (p.Gln201fs)
|
|
|
NM_052845.4(MMAB):c.5C>T (p.Ala2Val)
|
|
|
NM_052845.4(MMAB):c.604A>G (p.Met202Val)
|
rs1884098738
|
|
NM_052845.4(MMAB):c.60G>A (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
|
rs766597566
|
|
NM_052845.4(MMAB):c.615C>G (p.Thr205=)
|
rs760629956
|
|
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
|
|
|
NM_052845.4(MMAB):c.61dup (p.Cys21fs)
|
rs2136213505
|
|
NM_052845.4(MMAB):c.620C>A (p.Ala207Glu)
|
|
|
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
|
|
|
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
|
|
|
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter)
|
rs2136195113
|
|
NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)
|
|
|
NM_052845.4(MMAB):c.644+14A>C
|
|
|
NM_052845.4(MMAB):c.644+17T>C
|
|
|
NM_052845.4(MMAB):c.644+1G>A
|
rs1592996077
|
|
NM_052845.4(MMAB):c.644+4C>G
|
|
|
NM_052845.4(MMAB):c.644+7dup
|
|
|
NM_052845.4(MMAB):c.645-16C>A
|
|
|
NM_052845.4(MMAB):c.645-20CT[6]
|
|
|
NM_052845.4(MMAB):c.645-7C>T
|
|
|
NM_052845.4(MMAB):c.645-8C>T
|
|
|
NM_052845.4(MMAB):c.649dup (p.Ser217fs)
|
|
|
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)
|
rs2136192612
|
|
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
|
|
|
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
|
rs2136192590
|
|
NM_052845.4(MMAB):c.659T>C (p.Leu220Pro)
|
|
|
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
|
|
|
NM_052845.4(MMAB):c.660_661del (p.Phe221fs)
|
rs1383825118
|
|
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
|
rs369296142
|
|
NM_052845.4(MMAB):c.66C>G (p.Phe22Leu)
|
|
|
NM_052845.4(MMAB):c.66C>T (p.Phe22=)
|
rs765869812
|
|
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
|
|
|
NM_052845.4(MMAB):c.683C>T (p.Ala228Val)
|
|
|
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
|
|
|
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
|
|
|
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
|
|
|
NM_052845.4(MMAB):c.6T>A (p.Ala2=)
|
|
|
NM_052845.4(MMAB):c.701_702del (p.Gln234fs)
|
|
|
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
|
|
|
NM_052845.4(MMAB):c.703G>A (p.Glu235Lys)
|
|
|
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
|
|
|
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
|
|
|
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)
|
|
|
NM_052845.4(MMAB):c.732G>C (p.Ser244=)
|
rs186864802
|
|
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
|
rs377015836
|
|
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
|
rs377015836
|
|
NM_052845.4(MMAB):c.78G>A (p.Arg26=)
|
|
|
NM_052845.4(MMAB):c.7G>A (p.Val3Met)
|
rs1884748119
|
|
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
|
rs747142605
|
|
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)
|
rs2136213423
|
|
NM_052845.4(MMAB):c.88C>T (p.Pro30Ser)
|
|
|
NM_172250.3(MMAA):c.*1149C>G
|
rs999175069
|
|
NM_172250.3(MMAA):c.*1221A>G
|
rs1728241243
|
|
NM_172250.3(MMAA):c.*1510C>T
|
rs1045440002
|
|
NM_172250.3(MMAA):c.*1558C>G
|
rs998811243
|
|
NM_172250.3(MMAA):c.*190C>T
|
rs1728208709
|
|
NM_172250.3(MMAA):c.*1924T>C
|
rs886059100
|
|
NM_172250.3(MMAA):c.*2343A>G
|
rs886059103
|
|
NM_172250.3(MMAA):c.*2445A>C
|
rs886059105
|
|
NM_172250.3(MMAA):c.*2448T>C
|
rs914268952
|
|
NM_172250.3(MMAA):c.*2479G>T
|
rs886059107
|
|
NM_172250.3(MMAA):c.*2646G>A
|
rs999780084
|
|
NM_172250.3(MMAA):c.*3125C>T
|
rs886059111
|
|
NM_172250.3(MMAA):c.*3213C>T
|
rs1317371212
|
|
NM_172250.3(MMAA):c.*3385C>T
|
rs1296968983
|
|
NM_172250.3(MMAA):c.*3797A>G
|
rs1578891934
|
|
NM_172250.3(MMAA):c.*3880G>A
|
rs1728325081
|
|
NM_172250.3(MMAA):c.*3934C>G
|
rs753155141
|
|
NM_172250.3(MMAA):c.*4044T>C
|
rs556788892
|
|
NM_172250.3(MMAA):c.*4200G>T
|
rs1346413343
|
|
NM_172250.3(MMAA):c.*581G>T
|
rs936007824
|
|
NM_172250.3(MMAA):c.*611A>C
|
rs1728220748
|
|
NM_172250.3(MMAA):c.*661C>T
|
rs1728222063
|
|
NM_172250.3(MMAA):c.*703C>T
|
rs548243828
|
|
NM_172250.3(MMAA):c.-5C>G
|
|
|
NM_172250.3(MMAA):c.-68C>A
|
rs886059087
|
|
NM_172250.3(MMAA):c.-68C>T
|
rs886059087
|
|
NM_172250.3(MMAA):c.1000G>A (p.Gly334Arg)
|
rs758394680
|
|
NM_172250.3(MMAA):c.1002G>A (p.Gly334=)
|
rs1018880684
|
|
NM_172250.3(MMAA):c.1002G>C (p.Gly334=)
|
|
|
NM_172250.3(MMAA):c.1005C>A (p.Ile335=)
|
rs2126629821
|
|
NM_172250.3(MMAA):c.1023A>G (p.Lys341=)
|
rs2126629831
|
|
NM_172250.3(MMAA):c.1025T>G (p.Met342Arg)
|
rs869320657
|
|
NM_172250.3(MMAA):c.1034T>C (p.Phe345Ser)
|
|
|
NM_172250.3(MMAA):c.1034del (p.Phe345fs)
|
rs398124552
|
|
NM_172250.3(MMAA):c.1036C>T (p.Gln346Ter)
|
|
|
NM_172250.3(MMAA):c.1037A>G (p.Gln346Arg)
|
|
|
NM_172250.3(MMAA):c.1042del (p.Asp347_Leu348insTer)
|
|
|
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
|
rs754630744
|
|
NM_172250.3(MMAA):c.1044A>G (p.Leu348=)
|
|
|
NM_172250.3(MMAA):c.1048C>T (p.Leu350Phe)
|
rs866580843
|
|
NM_172250.3(MMAA):c.1049T>A (p.Leu350His)
|
|
|
NM_172250.3(MMAA):c.1056T>C (p.Ser352=)
|
rs1302017266
|
|
NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)
|
rs1553959122
|
|
NM_172250.3(MMAA):c.1061A>G (p.Glu354Gly)
|
|
|
NM_172250.3(MMAA):c.1067del (p.Thr356fs)
|
|
|
NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)
|
rs999844958
|
|
NM_172250.3(MMAA):c.1083G>A (p.Lys361=)
|
|
|
NM_172250.3(MMAA):c.1086A>G (p.Gln362=)
|
|
|
NM_172250.3(MMAA):c.1087C>T (p.Gln363Ter)
|
|
|
NM_172250.3(MMAA):c.1095T>C (p.Val365=)
|
rs2126629917
|
|
NM_172250.3(MMAA):c.1098G>A (p.Trp366Ter)
|
|
|
NM_172250.3(MMAA):c.1108C>T (p.Leu370Phe)
|
|
|
NM_172250.3(MMAA):c.1114C>T (p.Gln372Ter)
|
|
|
NM_172250.3(MMAA):c.1114del (p.Gln372fs)
|
rs765726949
|
|
NM_172250.3(MMAA):c.1116G>A (p.Gln372=)
|
|
|
NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter)
|
|
|
NM_172250.3(MMAA):c.1120del (p.Ser374fs)
|
|
|
NM_172250.3(MMAA):c.1124del (p.Val375fs)
|
|
|
NM_172250.3(MMAA):c.112del (p.Ile38fs)
|
|
|
NM_172250.3(MMAA):c.1130del (p.Glu377fs)
|
|
|
NM_172250.3(MMAA):c.1131G>A (p.Glu377=)
|
rs2126629961
|
|
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
|
rs1728200540
|
|
NM_172250.3(MMAA):c.1142C>T (p.Thr381Ile)
|
rs1057520160
|
|
NM_172250.3(MMAA):c.1145del (p.His382fs)
|
|
|
NM_172250.3(MMAA):c.1146C>T (p.His382=)
|
rs1186287486
|
|
NM_172250.3(MMAA):c.1149C>A (p.Pro383=)
|
rs2126629982
|
|
NM_172250.3(MMAA):c.1149C>T (p.Pro383=)
|
|
|
NM_172250.3(MMAA):c.1156C>A (p.Arg386=)
|
|
|
NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp)
|
|
|
NM_172250.3(MMAA):c.1161A>G (p.Glu387=)
|
|
|
NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter)
|
|
|
NM_172250.3(MMAA):c.1170A>G (p.Pro390=)
|
rs2126630021
|
|
NM_172250.3(MMAA):c.1179A>G (p.Glu393=)
|
rs1578888894
|
|
NM_172250.3(MMAA):c.117A>G (p.Pro39=)
|
rs2126617113
|
|
NM_172250.3(MMAA):c.1196_1197delinsTT (p.Gly399Val)
|
rs1553959152
|
|
NM_172250.3(MMAA):c.1197G>A (p.Gly399=)
|
|
|
NM_172250.3(MMAA):c.1198G>T (p.Ala400Ser)
|
rs895867414
|
|
NM_172250.3(MMAA):c.1203G>A (p.Leu401=)
|
rs2126630061
|
|
NM_172250.3(MMAA):c.1206C>T (p.Ser402=)
|
rs1374931888
|
|
NM_172250.3(MMAA):c.1212A>C (p.Gly404=)
|
|
|
NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)
|
|
|
NM_172250.3(MMAA):c.1220C>T (p.Ala407Val)
|
|
|
NM_172250.3(MMAA):c.1228T>C (p.Leu410=)
|
|
|
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter)
|
rs1728203978
|
|
NM_172250.3(MMAA):c.1241T>C (p.Phe414Ser)
|
|
|
NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)
|
rs758345818
|
|
NM_172250.3(MMAA):c.127_134dup (p.Ser46fs)
|
rs2126617138
|
|
NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)
|
rs886059088
|
|
NM_172250.3(MMAA):c.139_140del (p.Leu47fs)
|
rs1560795828
|
|
NM_172250.3(MMAA):c.144A>G (p.Gly48=)
|
|
|
NM_172250.3(MMAA):c.150T>C (p.His50=)
|
rs2126617181
|
|
NM_172250.3(MMAA):c.156A>G (p.Thr52=)
|
|
|
NM_172250.3(MMAA):c.15_16del (p.Pro6fs)
|
rs1553957862
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.166C>T (p.Leu56=)
|
rs2126617212
|
|
NM_172250.3(MMAA):c.168G>A (p.Leu56=)
|
rs1396471571
|
|
NM_172250.3(MMAA):c.168G>T (p.Leu56=)
|
rs1396471571
|
|
NM_172250.3(MMAA):c.170del (p.Leu57fs)
|
|
|
NM_172250.3(MMAA):c.184_185del (p.Lys62fs)
|
|
|
NM_172250.3(MMAA):c.185A>G (p.Lys62Arg)
|
|
|
NM_172250.3(MMAA):c.186G>A (p.Lys62=)
|
|
|
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
|
|
|
NM_172250.3(MMAA):c.195A>G (p.Leu65=)
|
|
|
NM_172250.3(MMAA):c.198T>C (p.Cys66=)
|
|
|
NM_172250.3(MMAA):c.1A>G (p.Met1Val)
|
rs1553957856
|
|
NM_172250.3(MMAA):c.201A>G (p.Val67=)
|
|
|
NM_172250.3(MMAA):c.202C>T (p.Gln68Ter)
|
rs754894257
|
|
NM_172250.3(MMAA):c.204A>G (p.Gln68=)
|
rs1727714117
|
|
NM_172250.3(MMAA):c.206del (p.Thr69fs)
|
rs1553957901
|
|
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
|
rs1328208245
|
|
NM_172250.3(MMAA):c.21T>C (p.His7=)
|
|
|
NM_172250.3(MMAA):c.222C>T (p.His74=)
|
rs1578877626
|
|
NM_172250.3(MMAA):c.240T>C (p.Asp80=)
|
rs2126617322
|
|
NM_172250.3(MMAA):c.246G>A (p.Glu82=)
|
rs750230122
|
|
NM_172250.3(MMAA):c.255T>C (p.Phe85=)
|
rs2126617358
|
|
NM_172250.3(MMAA):c.255del (p.Phe85fs)
|
|
|
NM_172250.3(MMAA):c.260_261insATAAACTT (p.Asp87delinsGluTer)
|
|
|
NM_172250.3(MMAA):c.260_267dup (p.Tyr90fs)
|
|
|
NM_172250.3(MMAA):c.264A>G (p.Lys88=)
|
|
|
NM_172250.3(MMAA):c.265C>G (p.Leu89Val)
|
|
|
NM_172250.3(MMAA):c.267_268del (p.Thr91fs)
|
rs1553957906
|
|
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
|
rs148404005
|
|
NM_172250.3(MMAA):c.281T>C (p.Ile94Thr)
|
|
|
NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet)
|
|
|
NM_172250.3(MMAA):c.284A>G (p.Gln95Arg)
|
|
|
NM_172250.3(MMAA):c.288G>A (p.Gly96=)
|
rs559279147
|
|
NM_172250.3(MMAA):c.290_296del (p.Gln97fs)
|
rs1553957907
|
|
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr)
|
rs1553957915
|
|
NM_172250.3(MMAA):c.298_312del (p.Cys100_Ala104del)
|
rs780082584
|
|
NM_172250.3(MMAA):c.302T>G (p.Leu101Ter)
|
|
|
NM_172250.3(MMAA):c.303A>G (p.Leu101=)
|
|
|
NM_172250.3(MMAA):c.314T>C (p.Ile105Thr)
|
|
|
NM_172250.3(MMAA):c.314dup (p.Thr106fs)
|
rs1727720677
|
|
NM_172250.3(MMAA):c.320T>C (p.Leu107Pro)
|
|
|
NM_172250.3(MMAA):c.325G>T (p.Glu109Ter)
|
|
|
NM_172250.3(MMAA):c.32A>G (p.His11Arg)
|
|
|
NM_172250.3(MMAA):c.333T>A (p.Thr111=)
|
|
|
NM_172250.3(MMAA):c.333T>C (p.Thr111=)
|
|
|
NM_172250.3(MMAA):c.335A>G (p.His112Arg)
|
rs2126617469
|
|
NM_172250.3(MMAA):c.342G>A (p.Arg114=)
|
rs774790573
|
|
NM_172250.3(MMAA):c.346A>C (p.Lys116Gln)
|
|
|
NM_172250.3(MMAA):c.354A>G (p.Leu118=)
|
|
|
NM_172250.3(MMAA):c.357C>T (p.Ala119=)
|
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.362T>C (p.Val121Ala)
|
|
|
NM_172250.3(MMAA):c.363G>C (p.Val121=)
|
rs2126617517
|
|
NM_172250.3(MMAA):c.369T>G (p.Leu123=)
|
rs1418638749
|
|
NM_172250.3(MMAA):c.36C>T (p.Phe12=)
|
rs1661385949
|
|
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)
|
rs796064514
|
|
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
|
rs1727722684
|
|
NM_172250.3(MMAA):c.375A>G (p.Lys125=)
|
|
|
NM_172250.3(MMAA):c.383T>C (p.Leu128Pro)
|
rs560188002
|
|
NM_172250.3(MMAA):c.384T>C (p.Leu128=)
|
|
|
NM_172250.3(MMAA):c.386dup (p.Tyr129Ter)
|
|
|
NM_172250.3(MMAA):c.388del (p.His130fs)
|
|
|
NM_172250.3(MMAA):c.390C>T (p.His130=)
|
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_172250.3(MMAA):c.39A>C (p.Leu13=)
|
rs1727705456
|
|
NM_172250.3(MMAA):c.402A>G (p.Glu134=)
|
rs2126617588
|
|
NM_172250.3(MMAA):c.405A>G (p.Gln135=)
|
|
|
NM_172250.3(MMAA):c.405del (p.Gln135fs)
|
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.414A>G (p.Lys138=)
|
rs1237655127
|
|
NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs)
|
|
|
NM_172250.3(MMAA):c.439+12T>G
|
|
|
NM_172250.3(MMAA):c.439+14G>T
|
|
|
NM_172250.3(MMAA):c.439+14del
|
|
|
NM_172250.3(MMAA):c.439+16G>C
|
|
|
NM_172250.3(MMAA):c.439+1G>A
|
rs1553957938
|
|
NM_172250.3(MMAA):c.439+2T>A
|
|
|
NM_172250.3(MMAA):c.439+2T>C
|
|
|
NM_172250.3(MMAA):c.439+4_439+7del
|
rs1553957939
|
|
NM_172250.3(MMAA):c.439+9T>C
|
|
|
NM_172250.3(MMAA):c.440-10dup
|
|
|
NM_172250.3(MMAA):c.440-19A>C
|
|
|
NM_172250.3(MMAA):c.440-2A>G
|
|
|
NM_172250.3(MMAA):c.440-7A>C
|
rs1337205137
|
|
NM_172250.3(MMAA):c.440-9C>A
|
|
|
NM_172250.3(MMAA):c.440G>A (p.Gly147Glu)
|
|
|
NM_172250.3(MMAA):c.441dup (p.Leu148fs)
|
rs1553958126
|
|
NM_172250.3(MMAA):c.443T>A (p.Leu148Ter)
|
|
|
NM_172250.3(MMAA):c.44_45delinsAA (p.Gly15Glu)
|
|
|
NM_172250.3(MMAA):c.450dup (p.Pro151fs)
|
rs754973022
|
|
NM_172250.3(MMAA):c.453C>G (p.Pro151=)
|
rs879110861
|
|
NM_172250.3(MMAA):c.455del (p.Pro152fs)
|
rs1553958127
|
|
NM_172250.3(MMAA):c.457G>A (p.Gly153Ser)
|
|
|
NM_172250.3(MMAA):c.468dup (p.Ser157fs)
|
rs2126619930
|
|
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
|
|
|
NM_172250.3(MMAA):c.488T>G (p.Phe163Cys)
|
|
|
NM_172250.3(MMAA):c.490G>T (p.Gly164Ter)
|
|
|
NM_172250.3(MMAA):c.493A>T (p.Lys165Ter)
|
|
|
NM_172250.3(MMAA):c.496del (p.Met166fs)
|
|
|
NM_172250.3(MMAA):c.501T>G (p.Leu167=)
|
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)
|
rs1553958153
|
|
NM_172250.3(MMAA):c.509G>C (p.Arg170Thr)
|
|
|
NM_172250.3(MMAA):c.50T>A (p.Leu17Ter)
|
|
|
NM_172250.3(MMAA):c.513G>A (p.Gly171=)
|
rs2126620000
|
|
NM_172250.3(MMAA):c.519A>G (p.Lys173=)
|
|
|
NM_172250.3(MMAA):c.523dup (p.Ser175fs)
|
|
|
NM_172250.3(MMAA):c.527_528del (p.Val176fs)
|
rs1553958158
|
|
NM_172250.3(MMAA):c.541C>G (p.Pro181Ala)
|
|
|
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
|
|
|
NM_172250.3(MMAA):c.546T>C (p.Ser182=)
|
|
|
NM_172250.3(MMAA):c.549T>C (p.Ser183=)
|
|
|
NM_172250.3(MMAA):c.54A>G (p.Arg18=)
|
|
|
NM_172250.3(MMAA):c.54del (p.Ala19fs)
|
|
|
NM_172250.3(MMAA):c.551G>A (p.Cys184Tyr)
|
|
|
NM_172250.3(MMAA):c.551dup (p.Cys184fs)
|
rs1553958159
|
|
NM_172250.3(MMAA):c.552T>A (p.Cys184Ter)
|
rs1727814966
|
|
NM_172250.3(MMAA):c.555T>C (p.Thr185=)
|
|
|
NM_172250.3(MMAA):c.562+1G>A
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+1G>T
|
rs869320656
|
|
NM_172250.3(MMAA):c.562+2T>C
|
|
|
NM_172250.3(MMAA):c.562+4A>C
|
rs1336573288
|
|
NM_172250.3(MMAA):c.562+7A>T
|
rs2126620073
|
|
NM_172250.3(MMAA):c.562+8T>C
|
|
|
NM_172250.3(MMAA):c.562+9G>A
|
rs2126620076
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.563-17G>A
|
|
|
NM_172250.3(MMAA):c.563-4T>A
|
|
|
NM_172250.3(MMAA):c.564A>T (p.Gly188=)
|
rs1727918663
|
|
NM_172250.3(MMAA):c.575G>A (p.Gly192Asp)
|
rs1553958392
|
|
NM_172250.3(MMAA):c.585C>A (p.Thr195=)
|
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.594dup (p.Glu199Ter)
|
rs1553958395
|
|
NM_172250.3(MMAA):c.599T>C (p.Leu200Ser)
|
|
|
NM_172250.3(MMAA):c.600A>G (p.Leu200=)
|
rs2126622751
|
|
NM_172250.3(MMAA):c.600A>T (p.Leu200Phe)
|
|
|
NM_172250.3(MMAA):c.601_602del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.601del (p.Ser201fs)
|
|
|
NM_172250.3(MMAA):c.603A>G (p.Ser201=)
|
rs2126622760
|
|
NM_172250.3(MMAA):c.616G>A (p.Ala206Thr)
|
|
|
NM_172250.3(MMAA):c.618A>G (p.Ala206=)
|
rs1727920444
|
|
NM_172250.3(MMAA):c.620A>G (p.Tyr207Cys)
|
rs104893849
|
|
NM_172250.3(MMAA):c.634C>G (p.Pro212Ala)
|
|
|
NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs)
|
|
|
NM_172250.3(MMAA):c.639del (p.Arg214fs)
|
rs2126622813
|
|
NM_172250.3(MMAA):c.648T>C (p.Thr216=)
|
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.651A>G (p.Leu217=)
|
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|
NM_172250.3(MMAA):c.657C>A (p.Gly219=)
|
rs1291307841
|
|
NM_172250.3(MMAA):c.657C>T (p.Gly219=)
|
|
|
NM_172250.3(MMAA):c.659T>C (p.Val220Ala)
|
rs941689476
|
|
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
|
rs375682603
|
|
NM_172250.3(MMAA):c.663A>G (p.Thr221=)
|
rs2126622855
|
|
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly)
|
rs920825350
|
|
NM_172250.3(MMAA):c.666G>A (p.Arg222=)
|
|
|
NM_172250.3(MMAA):c.691T>C (p.Cys231Arg)
|
rs2126622891
|
|
NM_172250.3(MMAA):c.697G>T (p.Gly233Ter)
|
rs1727922828
|
|
NM_172250.3(MMAA):c.6C>T (p.Pro2=)
|
|
|
NM_172250.3(MMAA):c.702G>T (p.Ala234=)
|
|
|
NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter)
|
|
|
NM_172250.3(MMAA):c.708dup (p.Asp237Ter)
|
|
|
NM_172250.3(MMAA):c.711C>T (p.Asp237=)
|
|
|
NM_172250.3(MMAA):c.713_714del (p.Ile238fs)
|
|
|
NM_172250.3(MMAA):c.718C>G (p.Leu240Val)
|
rs752844506
|
|
NM_172250.3(MMAA):c.721A>T (p.Ile241Phe)
|
rs756221585
|
|
NM_172250.3(MMAA):c.728C>A (p.Thr243Asn)
|
rs1553958417
|
|
NM_172250.3(MMAA):c.729C>A (p.Thr243=)
|
|
|
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)
|
rs1553957883
|
|
NM_172250.3(MMAA):c.72C>T (p.Tyr24=)
|
|
|
NM_172250.3(MMAA):c.730G>T (p.Val244Phe)
|
rs771044996
|
|
NM_172250.3(MMAA):c.733+12A>G
|
|
|
NM_172250.3(MMAA):c.733+16T>G
|
|
|
NM_172250.3(MMAA):c.733+1G>T
|
|
|
NM_172250.3(MMAA):c.733+9G>A
|
|
|
NM_172250.3(MMAA):c.734-13T>C
|
|
|
NM_172250.3(MMAA):c.734-15G>A
|
|
|
NM_172250.3(MMAA):c.734-20G>A
|
|
|
NM_172250.3(MMAA):c.734-9C>A
|
rs756275016
|
|
NM_172250.3(MMAA):c.734-9C>T
|
rs756275016
|
|
NM_172250.3(MMAA):c.746_762dup (p.Asp255fs)
|
|
|
NM_172250.3(MMAA):c.761C>T (p.Ala254Val)
|
|
|
NM_172250.3(MMAA):c.762T>A (p.Ala254=)
|
|
|
NM_172250.3(MMAA):c.762T>C (p.Ala254=)
|
rs1033389087
|
|
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
|
rs1728076151
|
|
NM_172250.3(MMAA):c.771T>C (p.Val257=)
|
rs2126627142
|
|
NM_172250.3(MMAA):c.772G>A (p.Asp258Asn)
|
|
|
NM_172250.3(MMAA):c.775A>C (p.Met259Leu)
|
|
|
NM_172250.3(MMAA):c.776T>C (p.Met259Thr)
|
rs1328403056
|
|
NM_172250.3(MMAA):c.780del (p.Phe260fs)
|
|
|
NM_172250.3(MMAA):c.783T>A (p.Val261=)
|
rs2126627167
|
|
NM_172250.3(MMAA):c.783T>G (p.Val261=)
|
|
|
NM_172250.3(MMAA):c.785T>A (p.Leu262Ter)
|
|
|
NM_172250.3(MMAA):c.786A>G (p.Leu262=)
|
|
|
NM_172250.3(MMAA):c.78C>T (p.Phe26=)
|
rs2126617065
|
|
NM_172250.3(MMAA):c.795_796dup (p.Pro266fs)
|
rs2126627182
|
|
NM_172250.3(MMAA):c.800C>T (p.Ala267Val)
|
rs138854691
|
|
NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)
|
rs1553958720
|
|
NM_172250.3(MMAA):c.816G>A (p.Leu272=)
|
rs1728078075
|
|
NM_172250.3(MMAA):c.817C>T (p.Gln273Ter)
|
|
|
NM_172250.3(MMAA):c.819+11T>G
|
|
|
NM_172250.3(MMAA):c.819+13del
|
|
|
NM_172250.3(MMAA):c.819+19dup
|
|
|
NM_172250.3(MMAA):c.819+8T>C
|
|
|
NM_172250.3(MMAA):c.81C>T (p.Ile27=)
|
rs2126617076
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|
NM_172250.3(MMAA):c.820-10A>C
|
rs2126629035
|
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NM_172250.3(MMAA):c.820-13C>G
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NM_172250.3(MMAA):c.820-15T>G
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|
NM_172250.3(MMAA):c.820-1G>A
|
rs1553959017
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NM_172250.3(MMAA):c.820-1G>C
|
rs1553959017
|
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NM_172250.3(MMAA):c.820-2A>G
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|
|
NM_172250.3(MMAA):c.820-7T>C
|
|
|
NM_172250.3(MMAA):c.820-8C>G
|
rs1728162232
|
|
NM_172250.3(MMAA):c.820G>C (p.Gly274Arg)
|
|
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NM_172250.3(MMAA):c.821del
|
|
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NM_172250.3(MMAA):c.831G>A (p.Arg277=)
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|
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NM_172250.3(MMAA):c.832G>A (p.Gly278Ser)
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|
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NM_172250.3(MMAA):c.836_837del (p.Ile279fs)
|
|
|
NM_172250.3(MMAA):c.845T>C (p.Met282Thr)
|
|
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NM_172250.3(MMAA):c.851del (p.Asp284fs)
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|
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NM_172250.3(MMAA):c.855G>A (p.Leu285=)
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|
|
NM_172250.3(MMAA):c.856G>C (p.Val286Leu)
|
|
|
NM_172250.3(MMAA):c.858A>G (p.Val286=)
|
rs142063642
|
|
NM_172250.3(MMAA):c.860C>A (p.Ala287Asp)
|
rs1553959024
|
|
NM_172250.3(MMAA):c.861T>C (p.Ala287=)
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|
|
NM_172250.3(MMAA):c.862G>A (p.Val288Ile)
|
rs886059089
|
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NM_172250.3(MMAA):c.867T>G (p.Thr289=)
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|
|
NM_172250.3(MMAA):c.875A>T (p.Asp292Val)
|
rs1553959025
|
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NM_172250.3(MMAA):c.877G>A (p.Gly293Arg)
|
|
|
NM_172250.3(MMAA):c.885G>A (p.Leu295=)
|
rs2126629113
|
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NM_172250.3(MMAA):c.889G>A (p.Val297Met)
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|
|
NM_172250.3(MMAA):c.898C>T (p.Arg300Ter)
|
rs1340736923
|
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NM_172250.3(MMAA):c.904A>G (p.Ile302Val)
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|
|
NM_172250.3(MMAA):c.911C>T (p.Ala304Val)
|
|
|
NM_172250.3(MMAA):c.918T>C (p.Tyr306=)
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|
|
NM_172250.3(MMAA):c.924T>C (p.Ser308=)
|
rs2126629166
|
|
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
|
rs1728166357
|
|
NM_172250.3(MMAA):c.933A>G (p.Lys311=)
|
rs2126629176
|
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NM_172250.3(MMAA):c.936dup (p.Leu313fs)
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|
|
NM_172250.3(MMAA):c.940del (p.Arg314fs)
|
|
|
NM_172250.3(MMAA):c.942C>A (p.Arg314=)
|
rs773218154
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NM_172250.3(MMAA):c.946C>T (p.Arg316Cys)
|
|
|
NM_172250.3(MMAA):c.951A>C (p.Ser317=)
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|
|
NM_172250.3(MMAA):c.951A>G (p.Ser317=)
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|
|
NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)
|
rs751717131
|
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NM_172250.3(MMAA):c.957C>T (p.Val319=)
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|
|
NM_172250.3(MMAA):c.963_969+4del
|
|
|
NM_172250.3(MMAA):c.969+10C>T
|
rs1728168081
|
|
NM_172250.3(MMAA):c.969+15A>C
|
|
|
NM_172250.3(MMAA):c.969+15A>G
|
|
|
NM_172250.3(MMAA):c.969+18C>T
|
|
|
NM_172250.3(MMAA):c.969+20G>T
|
|
|
NM_172250.3(MMAA):c.969+9G>A
|
rs1007611523
|
|
NM_172250.3(MMAA):c.96T>A (p.Thr32=)
|
|
|
NM_172250.3(MMAA):c.970-19G>T
|
|
|
NM_172250.3(MMAA):c.970-2A>T
|
rs1553959113
|
|
NM_172250.3(MMAA):c.970-3T>C
|
|
|
NM_172250.3(MMAA):c.970-3dup
|
|
|
NM_172250.3(MMAA):c.970-4A>T
|
rs1728189053
|
|
NM_172250.3(MMAA):c.970-5G>T
|
|
|
NM_172250.3(MMAA):c.970G>A (p.Val324Ile)
|
rs1010220185
|
|
NM_172250.3(MMAA):c.972A>G (p.Val324=)
|
rs2126629778
|
|
NM_172250.3(MMAA):c.988del (p.Arg330fs)
|
|
|
NM_172250.3(MMAA):c.999G>A (p.Glu333=)
|
|
|
NM_172250.3(MMAA):c.99T>C (p.His33=)
|
rs2126617089
|
|
NM_181697.3(PRDX1):c.515-2A>T
|
rs1379672870
|
|
NM_207346.3(TSEN54):c.953del (p.Pro318fs)
|
|
|