NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001114753.3(ENG):c.-188G>A
|
rs961480381
|
0.00017
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_001114753.3(ENG):c.-76C>T
|
rs943786398
|
0.00006
|
NM_001114753.3(ENG):c.360C>T (p.Tyr120=)
|
rs121918402
|
0.00006
|
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.1067T>A (p.Met356Lys)
|
rs138190783
|
0.00003
|
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala)
|
rs1472137141
|
0.00003
|
NM_001114753.3(ENG):c.374T>C (p.Val125Ala)
|
rs750115837
|
0.00003
|
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu)
|
rs781715616
|
0.00003
|
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala)
|
rs1370586541
|
0.00003
|
NM_001114753.3(ENG):c.-59C>T
|
rs1003149967
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp)
|
rs971190119
|
0.00002
|
NM_001114753.3(ENG):c.-91C>T
|
rs1478547011
|
0.00001
|
NM_001114753.3(ENG):c.-99C>T
|
rs1488678420
|
0.00001
|
NM_001114753.3(ENG):c.160G>A (p.Val54Met)
|
rs923794879
|
0.00001
|
NM_001114753.3(ENG):c.1774G>A (p.Val592Met)
|
rs756003321
|
0.00001
|
NM_001114753.3(ENG):c.1782C>T (p.Gly594=)
|
rs1390519046
|
0.00001
|
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met)
|
rs201031046
|
0.00001
|
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys)
|
rs1346184000
|
0.00001
|
NM_001114753.3(ENG):c.219+3G>A
|
rs1419279746
|
0.00001
|
NM_001114753.3(ENG):c.28G>A (p.Val10Ile)
|
rs1829096799
|
0.00001
|
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly)
|
rs757343854
|
0.00001
|
NM_001114753.3(ENG):c.534_536del (p.Leu179del)
|
rs1285249384
|
0.00001
|
NM_001114753.3(ENG):c.575G>A (p.Arg192His)
|
rs1029569378
|
0.00001
|
NM_001114753.3(ENG):c.576C>T (p.Arg192=)
|
rs1482783820
|
0.00001
|
NM_001114753.3(ENG):c.68-17G>A
|
rs570198729
|
0.00001
|
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr)
|
rs769339049
|
0.00001
|
NM_001114753.3(ENG):c.698C>T (p.Thr233Met)
|
rs139767471
|
0.00001
|
NM_001114753.3(ENG):c.704C>T (p.Thr235Met)
|
rs1361480439
|
0.00001
|
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe)
|
rs377377549
|
0.00001
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.816+6T>C
|
rs759191907
|
0.00001
|
NM_001114753.3(ENG):c.839A>G (p.Lys280Arg)
|
rs774709924
|
0.00001
|
NM_001114753.3(ENG):c.841A>G (p.Ile281Val)
|
rs764640510
|
0.00001
|
NC_000009.11:g.(?_130578190)_(130616640_?)dup
|
|
|
NC_000009.11:g.(?_130578196)_(130616761_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130587263_?)dup
|
|
|
NC_000009.11:g.(?_130586563)_(130588971_?)dup
|
|
|
NC_000009.12:g.(?_127819612)_(127820047_?)dup
|
|
|
NM_001114753.3(ENG):c.-111G>A
|
|
|
NM_001114753.3(ENG):c.-112C>T
|
|
|
NM_001114753.3(ENG):c.-115G>A
|
|
|
NM_001114753.3(ENG):c.-115G>C
|
rs546892762
|
|
NM_001114753.3(ENG):c.-117C>T
|
|
|
NM_001114753.3(ENG):c.-123G>A
|
|
|
NM_001114753.3(ENG):c.-12C>T
|
|
|
NM_001114753.3(ENG):c.-133C>T
|
|
|
NM_001114753.3(ENG):c.-141G>T
|
|
|
NM_001114753.3(ENG):c.-154C>T
|
|
|
NM_001114753.3(ENG):c.-21A>G
|
|
|
NM_001114753.3(ENG):c.-24C>T
|
|
|
NM_001114753.3(ENG):c.-2G>T
|
|
|
NM_001114753.3(ENG):c.-59C>A
|
|
|
NM_001114753.3(ENG):c.-62G>A
|
|
|
NM_001114753.3(ENG):c.-69G>A
|
|
|
NM_001114753.3(ENG):c.-70del
|
rs886063477
|
|
NM_001114753.3(ENG):c.-75G>A
|
|
|
NM_001114753.3(ENG):c.-77C>G
|
rs1829099196
|
|
NM_001114753.3(ENG):c.-78G>A
|
|
|
NM_001114753.3(ENG):c.-79C>T
|
rs1564466502
|
|
NM_001114753.3(ENG):c.-90G>C
|
rs768083796
|
|
NM_001114753.3(ENG):c.-94C>G
|
|
|
NM_001114753.3(ENG):c.1026G>T (p.Gln342His)
|
rs1830551216
|
|
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala)
|
rs2131886016
|
|
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro)
|
rs2131885993
|
|
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser)
|
rs1554810062
|
|
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe)
|
rs1830549584
|
|
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
|
|
|
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg)
|
rs138190783
|
|
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn)
|
rs2131885879
|
|
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr)
|
|
|
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr)
|
rs548690138
|
|
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro)
|
rs372371435
|
|
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly)
|
|
|
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile)
|
rs775352287
|
|
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln)
|
rs1830547696
|
|
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu)
|
rs1830547424
|
|
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys)
|
rs892005175
|
|
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla)
|
|
|
NM_001114753.3(ENG):c.130T>C (p.Tyr44His)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp)
|
rs1554812271
|
|
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile)
|
rs1393437924
|
|
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe)
|
|
|
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly)
|
|
|
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly)
|
rs1830304920
|
|
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg)
|
|
|
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile)
|
|
|
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
|
rs747196026
|
|
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser)
|
rs1060501409
|
|
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala)
|
rs1830302512
|
|
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val)
|
|
|
NM_001114753.3(ENG):c.1852+1G>C
|
rs2131871398
|
|
NM_001114753.3(ENG):c.1852+21C>T
|
|
|
NM_001114753.3(ENG):c.1852+3G>A
|
|
|
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly)
|
|
|
NM_001114753.3(ENG):c.194A>G (p.His65Arg)
|
rs1267116267
|
|
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro)
|
rs2131918396
|
|
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser)
|
rs1831079928
|
|
NM_001114753.3(ENG):c.219+5G>T
|
rs1554812252
|
|
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
|
rs755348996
|
|
NM_001114753.3(ENG):c.220-12T>A
|
|
|
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr)
|
|
|
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser)
|
rs376186413
|
|
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala)
|
|
|
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly)
|
|
|
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly)
|
|
|
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg)
|
rs757343854
|
|
NM_001114753.3(ENG):c.320T>G (p.Leu107Arg)
|
|
|
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del)
|
rs1830714023
|
|
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
|
rs1060501425
|
|
NM_001114753.3(ENG):c.32C>T (p.Ala11Val)
|
|
|
NM_001114753.3(ENG):c.332C>T (p.Ala111Val)
|
rs1029247883
|
|
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser)
|
rs759368120
|
|
NM_001114753.3(ENG):c.350A>C (p.His117Pro)
|
rs1588585799
|
|
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys)
|
rs863223533
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg)
|
|
|
NM_001114753.3(ENG):c.360+2dup
|
|
|
NM_001114753.3(ENG):c.373G>C (p.Val125Leu)
|
rs1564456745
|
|
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)
|
rs750115837
|
|
NM_001114753.3(ENG):c.37C>A (p.Leu13Met)
|
|
|
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile)
|
rs1554810507
|
|
NM_001114753.3(ENG):c.397G>T (p.Val133Phe)
|
|
|
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly)
|
|
|
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr)
|
|
|
NM_001114753.3(ENG):c.435G>C (p.Gln145His)
|
|
|
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser)
|
rs2131890519
|
|
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly)
|
|
|
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala)
|
|
|
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro)
|
rs2131890481
|
|
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr)
|
rs539165395
|
|
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro)
|
rs994887264
|
|
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg)
|
|
|
NM_001114753.3(ENG):c.498G>C (p.Gln166His)
|
rs1167818567
|
|
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile)
|
rs755988915
|
|
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)
|
rs2131890414
|
|
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe)
|
rs2131890408
|
|
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu)
|
|
|
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu)
|
rs1830603623
|
|
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro)
|
|
|
NM_001114753.3(ENG):c.547A>G (p.Met183Val)
|
rs1830603171
|
|
NM_001114753.3(ENG):c.549G>A (p.Met183Ile)
|
|
|
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr)
|
rs1427261977
|
|
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr)
|
rs147792018
|
|
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer)
|
|
|
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala)
|
rs1588582905
|
|
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)
|
rs2131889364
|
|
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg)
|
rs2131889336
|
|
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr)
|
rs902721446
|
|
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg)
|
rs777633247
|
|
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp)
|
rs750916329
|
|
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
|
rs1830597676
|
|
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del)
|
rs1830596103
|
|
NM_001114753.3(ENG):c.67+5G>T
|
|
|
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr)
|
|
|
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg)
|
|
|
NM_001114753.3(ENG):c.68-4A>G
|
rs1564462843
|
|
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr)
|
rs2131888946
|
|
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg)
|
rs546671241
|
|
NM_001114753.3(ENG):c.689+3A>T
|
|
|
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr)
|
rs1253367171
|
|
NM_001114753.3(ENG):c.690-5C>A
|
|
|
NM_001114753.3(ENG):c.692C>A (p.Pro231His)
|
rs1289232116
|
|
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del)
|
rs2131888057
|
|
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu)
|
rs772467926
|
|
NM_001114753.3(ENG):c.697_699del (p.Thr233del)
|
|
|
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys)
|
rs1361480439
|
|
NM_001114753.3(ENG):c.712G>T (p.Val238Leu)
|
|
|
NM_001114753.3(ENG):c.716A>T (p.Glu239Val)
|
|
|
NM_001114753.3(ENG):c.728C>T (p.Ala243Val)
|
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
|
rs143779963
|
|
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala)
|
rs1830580408
|
|
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu)
|
rs756252418
|
|
NM_001114753.3(ENG):c.775G>A (p.Val259Met)
|
|
|
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu)
|
rs1060501420
|
|
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del)
|
rs2131887656
|
|
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp)
|
rs2131887657
|
|
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del)
|
rs1588581812
|
|
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly)
|
rs139334561
|
|
NM_001114753.3(ENG):c.806T>C (p.Met269Thr)
|
rs752331196
|
|
NM_001114753.3(ENG):c.817-3T>C
|
|
|
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile)
|
rs727503038
|
|
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile)
|
rs1169613826
|
|
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu)
|
rs2131887192
|
|
NM_001114753.3(ENG):c.829T>C (p.Tyr277His)
|
rs1460443094
|
|
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys)
|
|
|
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys)
|
|
|
NM_001114753.3(ENG):c.844T>G (p.Phe282Val)
|
|
|
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg)
|
|
|
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp)
|
rs1830570208
|
|
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del)
|
rs2131887067
|
|
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu)
|
rs1830569895
|
|
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser)
|
rs1564462834
|
|
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg)
|
rs1830569316
|
|
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp)
|
rs754842280
|
|
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp)
|
rs1830568253
|
|
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn)
|
rs1831084391
|
|
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr)
|
rs1830567981
|
|
NM_001114753.3(ENG):c.943G>T (p.Val315Leu)
|
|
|
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln)
|
|
|
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro)
|
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NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del)
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rs1830567220
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NM_001114753.3(ENG):c.952C>A (p.Pro318Thr)
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NM_001114753.3(ENG):c.953C>G (p.Pro318Arg)
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rs1830567408
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NM_001114753.3(ENG):c.956T>G (p.Leu319Arg)
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NM_001114753.3(ENG):c.966T>G (p.Ile322Met)
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NM_001114753.3(ENG):c.970T>C (p.Ser324Pro)
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rs1830566735
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NM_001114753.3(ENG):c.982T>A (p.Ser328Thr)
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NM_001114753.3(ENG):c.985A>T (p.Ser329Cys)
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rs1280918470
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NM_001114753.3(ENG):c.989G>T (p.Cys330Phe)
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NM_001114753.3(ENG):c.992-3C>G
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rs1830552318
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NM_001114753.3(ENG):c.992-3C>T
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rs1830552318
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NM_001114753.3(ENG):c.992G>T (p.Gly331Val)
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