NC_000009.12:g.127854979T>G
|
rs4836586
|
0.99091
|
NM_001114753.3(ENG):c.219+25G>T
|
rs7847860
|
0.06245
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_001114753.3(ENG):c.68-215T>C
|
rs11789912
|
0.03711
|
NM_001114753.3(ENG):c.991+58A>T
|
rs12002508
|
0.01910
|
NM_001114753.3(ENG):c.360+21C>T
|
rs41355248
|
0.01861
|
NM_001114753.3(ENG):c.68-256A>G
|
rs41505655
|
0.01576
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_001114753.3(ENG):c.524-30G>A
|
rs41409546
|
0.01314
|
NM_001114753.3(ENG):c.67+254A>G
|
rs143016113
|
0.01181
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001114753.3(ENG):c.1932C>T (p.Ile644=)
|
rs181330955
|
0.00609
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_001114753.3(ENG):c.523+235C>T
|
rs41377844
|
0.00329
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp)
|
rs146100407
|
0.00117
|
NM_001114753.3(ENG):c.225G>A (p.Pro75=)
|
rs116146060
|
0.00091
|
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala)
|
rs201393380
|
0.00080
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001114753.3(ENG):c.234G>A (p.Leu78=)
|
rs115675061
|
0.00076
|
NM_001114753.3(ENG):c.219+22C>T
|
rs370257876
|
0.00073
|
NM_001114753.3(ENG):c.159C>T (p.Cys53=)
|
rs148475405
|
0.00056
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001114753.3(ENG):c.219+23G>A
|
rs200726108
|
0.00037
|
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)
|
rs139334561
|
0.00024
|
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser)
|
rs199840979
|
0.00021
|
NM_001114753.3(ENG):c.-70C>T
|
rs562538400
|
0.00020
|
NM_001114753.3(ENG):c.954G>A (p.Pro318=)
|
rs149590262
|
0.00019
|
NM_001114753.3(ENG):c.-188G>A
|
rs961480381
|
0.00017
|
NM_001114753.3(ENG):c.321G>T (p.Leu107=)
|
rs767907933
|
0.00015
|
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)
|
rs756897517
|
0.00015
|
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)
|
rs372045549
|
0.00010
|
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr)
|
rs761463410
|
0.00008
|
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)
|
rs201497772
|
0.00008
|
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)
|
rs201768056
|
0.00007
|
NM_001114753.3(ENG):c.-126G>A
|
rs940261789
|
0.00005
|
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)
|
rs772135786
|
0.00004
|
NM_001114753.3(ENG):c.596G>A (p.Arg199His)
|
rs548424658
|
0.00004
|
NM_001114753.3(ENG):c.705G>A (p.Thr235=)
|
rs755116051
|
0.00004
|
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys)
|
rs138190783
|
0.00003
|
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)
|
rs1329127701
|
0.00003
|
NM_001114753.3(ENG):c.405C>G (p.Thr135=)
|
rs773521685
|
0.00003
|
NM_001114753.3(ENG):c.1134+16C>T
|
rs544624587
|
0.00002
|
NM_001114753.3(ENG):c.*431T>G
|
rs549011956
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001114753.3(ENG):c.1014C>T (p.Pro338=)
|
rs1057522787
|
0.00001
|
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly)
|
rs868730895
|
0.00001
|
NM_001114753.3(ENG):c.158G>A (p.Cys53Tyr)
|
rs187643086
|
0.00001
|
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)
|
rs201031046
|
0.00001
|
NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr)
|
rs774869649
|
0.00001
|
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr)
|
rs768873662
|
0.00001
|
NM_001114753.3(ENG):c.524-2A>G
|
rs1060501414
|
0.00001
|
NM_001114753.3(ENG):c.68-17G>A
|
rs570198729
|
0.00001
|
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)
|
rs753429934
|
0.00001
|
NM_001114753.3(ENG):c.-127C>T
|
rs1060501408
|
|
NM_001114753.3(ENG):c.-2G>A
|
|
|
NM_001114753.3(ENG):c.-79C>T
|
rs1564466502
|
|
NM_001114753.3(ENG):c.1018C>T (p.Pro340Ser)
|
rs773463077
|
|
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)
|
rs1064792934
|
|
NM_001114753.3(ENG):c.1076T>G (p.Ile359Ser)
|
|
|
NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter)
|
|
|
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)
|
rs863223540
|
|
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs)
|
rs1554810051
|
|
NM_001114753.3(ENG):c.1089T>G (p.Cys363Trp)
|
rs777177134
|
|
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro)
|
rs372371435
|
|
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
|
rs2131885751
|
|
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)
|
rs1064793734
|
|
NM_001114753.3(ENG):c.1122dup (p.Glu375fs)
|
rs2131885756
|
|
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
|
rs2131918640
|
|
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile)
|
rs1393437924
|
|
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
|
rs1252348200
|
|
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
|
rs1564462765
|
|
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)
|
rs1588596879
|
|
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu)
|
rs1060504230
|
|
NM_001114753.3(ENG):c.1818C>A (p.Leu606=)
|
rs1588572499
|
|
NM_001114753.3(ENG):c.182T>C (p.Ile61Thr)
|
|
|
NM_001114753.3(ENG):c.1852+21_1852+22del
|
|
|
NM_001114753.3(ENG):c.1853-14GCTCCC[3]
|
rs373296026
|
|
NM_001114753.3(ENG):c.1853-8_1853-3del
|
|
|
NM_001114753.3(ENG):c.195T>C (p.His65=)
|
rs769288237
|
|
NM_001114753.3(ENG):c.219+259dup
|
rs148797940
|
|
NM_001114753.3(ENG):c.219+5G>C
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)
|
rs886039506
|
|
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)
|
rs267606783
|
|
NM_001114753.3(ENG):c.319C>T (p.Leu107=)
|
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.360+5G>A
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+5G>C
|
rs1060501417
|
|
NM_001114753.3(ENG):c.360+6T>G
|
rs2131894931
|
|
NM_001114753.3(ENG):c.361-311GA[4]
|
rs150688809
|
|
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)
|
rs750115837
|
|
NM_001114753.3(ENG):c.387G>A (p.Glu129=)
|
rs1588583668
|
|
NM_001114753.3(ENG):c.392dup (p.Val133fs)
|
|
|
NM_001114753.3(ENG):c.397dup (p.Val133fs)
|
rs1588583640
|
|
NM_001114753.3(ENG):c.411G>T (p.Glu137Asp)
|
|
|
NM_001114753.3(ENG):c.41_51del (p.Leu14fs)
|
rs1564466393
|
|
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter)
|
rs863223534
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.457_458del (p.Arg153fs)
|
rs2131890509
|
|
NM_001114753.3(ENG):c.469del (p.Thr157fs)
|
rs1554810494
|
|
NM_001114753.3(ENG):c.496dup (p.Gln166fs)
|
rs1830620247
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)
|
rs1554810490
|
|
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro)
|
rs756980265
|
|
NM_001114753.3(ENG):c.523+10C>T
|
rs1588583485
|
|
NM_001114753.3(ENG):c.523+1G>C
|
rs113930974
|
|
NM_001114753.3(ENG):c.525C>T (p.Ala175=)
|
rs1588583011
|
|
NM_001114753.3(ENG):c.526C>T (p.Gln176Ter)
|
rs1131691674
|
|
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)
|
rs863223537
|
|
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)
|
rs1830602163
|
|
NM_001114753.3(ENG):c.574_580del (p.Arg192fs)
|
rs1564456347
|
|
NM_001114753.3(ENG):c.578C>T (p.Thr193Met)
|
rs775442178
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001114753.3(ENG):c.583del (p.Glu195fs)
|
rs1554810413
|
|
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs)
|
rs1554810405
|
|
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)
|
rs864622666
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001114753.3(ENG):c.67+2T>C
|
rs2131936480
|
|
NM_001114753.3(ENG):c.67+4G>A
|
rs1309975584
|
|
NM_001114753.3(ENG):c.67+5G>A
|
rs763111216
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001114753.3(ENG):c.689+2T>C
|
rs863223535
|
|
NM_001114753.3(ENG):c.690-2A>T
|
rs1564455970
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.706_708del (p.Val236del)
|
rs1064794221
|
|
NM_001114753.3(ENG):c.712del (p.Val238fs)
|
rs886041548
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)
|
rs1064794220
|
|
NM_001114753.3(ENG):c.715dup (p.Glu239fs)
|
rs1554810257
|
|
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)
|
rs1064794219
|
|
NM_001114753.3(ENG):c.726C>A (p.Cys242Ter)
|
rs545465750
|
|
NM_001114753.3(ENG):c.732dup (p.Gly245fs)
|
rs1554810254
|
|
NM_001114753.3(ENG):c.736del (p.Asp246fs)
|
rs1554810249
|
|
NM_001114753.3(ENG):c.742G>C (p.Asp248His)
|
|
|
NM_001114753.3(ENG):c.742_743insT (p.Asp248fs)
|
rs1213847963
|
|
NM_001114753.3(ENG):c.743del (p.Asp248fs)
|
rs1588581961
|
|
NM_001114753.3(ENG):c.758T>C (p.Leu253Pro)
|
rs2131887841
|
|
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)
|
rs1554810234
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.772del (p.Tyr258fs)
|
rs1830580093
|
|
NM_001114753.3(ENG):c.781_782dup (p.Trp261fs)
|
rs2131887716
|
|
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn)
|
rs1085307431
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)
|
rs886041326
|
|
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)
|
rs886042916
|
|
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
|
|
|
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.895del (p.Leu299fs)
|
rs1064795636
|
|
NM_001114753.3(ENG):c.896_991+90del
|
rs1554810125
|
|
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)
|
rs1335718486
|
|
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)
|
rs1060501419
|
|
NM_001114753.3(ENG):c.909C>T (p.Ala303=)
|
rs200306464
|
|
NM_001114753.3(ENG):c.933_968del (p.Ala312_Val323del)
|
rs2131886859
|
|
NM_001114753.3(ENG):c.954_955delinsACGAAGACAA (p.Leu319fs)
|
|
|
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter)
|
rs1564462827
|
|
NM_001114753.3(ENG):c.98A>C (p.Gln33Pro)
|
rs863223531
|
|
NM_001114753.3(ENG):c.98_101del (p.Gln33fs)
|
rs1554812283
|
|
NM_001114753.3(ENG):c.991+2T>C
|
rs1564455554
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001114753.3(ENG):c.992-2A>G
|
rs1588580932
|
|
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
|
|
|