NM_000066.4(C8B):c.349G>A (p.Gly117Arg)
|
rs1013579
|
0.97877
|
NM_000066.4(C8B):c.1622-20A>G
|
rs605648
|
0.84486
|
NM_000066.4(C8B):c.322G>A (p.Glu108Lys)
|
rs12067507
|
0.05442
|
NM_000066.4(C8B):c.782C>T (p.Pro261Leu)
|
rs12085435
|
0.05435
|
NM_000066.4(C8B):c.1287A>C (p.Gly429=)
|
rs856841
|
0.01521
|
NM_000066.4(C8B):c.250-20C>G
|
rs114982349
|
0.00722
|
NM_000066.4(C8B):c.1625C>T (p.Thr542Ile)
|
rs61737417
|
0.00630
|
NM_000066.4(C8B):c.1144G>T (p.Asp382Tyr)
|
rs139498867
|
0.00442
|
NM_000066.4(C8B):c.606G>A (p.Pro202=)
|
rs34438223
|
0.00364
|
NM_000066.4(C8B):c.132C>G (p.Asn44Lys)
|
rs147505103
|
0.00223
|
NM_000066.4(C8B):c.957G>C (p.Gln319His)
|
rs146176997
|
0.00159
|
NM_000066.4(C8B):c.258T>C (p.Tyr86=)
|
rs113900156
|
0.00148
|
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
|
rs41286844
|
0.00118
|
NM_000066.4(C8B):c.681C>T (p.Tyr227=)
|
rs138606922
|
0.00093
|
NM_000066.4(C8B):c.724C>T (p.Arg242Cys)
|
rs150146785
|
0.00086
|
NM_000066.4(C8B):c.585T>C (p.Tyr195=)
|
rs143870427
|
0.00085
|
NM_000066.4(C8B):c.150C>G (p.Ser50Arg)
|
rs150386354
|
0.00083
|
NM_000066.4(C8B):c.392-12T>C
|
rs181374539
|
0.00076
|
NM_000066.4(C8B):c.1607T>A (p.Val536Asp)
|
rs143417649
|
0.00073
|
NM_000066.4(C8B):c.1716T>G (p.Pro572=)
|
rs149900569
|
0.00067
|
NM_000066.4(C8B):c.297G>A (p.Pro99=)
|
rs151032934
|
0.00059
|
NM_000066.4(C8B):c.1398+6C>T
|
rs373203493
|
0.00052
|
NM_000066.4(C8B):c.967C>T (p.Arg323Trp)
|
rs141295453
|
0.00046
|
NM_000066.4(C8B):c.1012C>T (p.Arg338Cys)
|
rs141136423
|
0.00042
|
NM_000066.4(C8B):c.212C>G (p.Ser71Cys)
|
rs148570619
|
0.00025
|
NM_000066.4(C8B):c.1338G>A (p.Ala446=)
|
rs199673976
|
0.00024
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000066.4(C8B):c.908A>G (p.His303Arg)
|
rs545706495
|
0.00023
|
NM_000066.4(C8B):c.624G>A (p.Thr208=)
|
rs148088012
|
0.00021
|
NM_000066.4(C8B):c.865-10T>C
|
rs369071394
|
0.00019
|
NM_000066.4(C8B):c.1235-9C>A
|
rs529115326
|
0.00018
|
NM_000066.4(C8B):c.1268T>C (p.Leu423Ser)
|
rs370269698
|
0.00017
|
NM_000066.4(C8B):c.1616G>A (p.Arg539Gln)
|
rs530148306
|
0.00017
|
NM_000066.4(C8B):c.1234+6T>C
|
rs759561922
|
0.00016
|
NM_000066.4(C8B):c.1492A>G (p.Lys498Glu)
|
rs200245622
|
0.00013
|
NM_000066.4(C8B):c.164G>A (p.Ser55Asn)
|
rs144586148
|
0.00013
|
NM_000066.4(C8B):c.1283G>A (p.Arg428Gln)
|
rs199592536
|
0.00012
|
NM_000066.4(C8B):c.33G>A (p.Ala11=)
|
rs766065295
|
0.00012
|
NM_000066.4(C8B):c.353G>A (p.Ser118Asn)
|
rs149147808
|
0.00012
|
NM_000066.4(C8B):c.108T>C (p.His36=)
|
rs199852869
|
0.00011
|
NM_000066.4(C8B):c.1441del (p.Tyr481fs)
|
rs752754320
|
0.00011
|
NM_000066.4(C8B):c.407G>A (p.Arg136His)
|
rs200374059
|
0.00011
|
NM_000066.4(C8B):c.605C>T (p.Pro202Leu)
|
rs142822254
|
0.00011
|
NM_000066.4(C8B):c.1075G>A (p.Val359Ile)
|
rs148695486
|
0.00009
|
NM_000066.4(C8B):c.161G>A (p.Arg54Gln)
|
rs772116036
|
0.00009
|
NM_000066.4(C8B):c.1739G>T (p.Cys580Phe)
|
rs139167053
|
0.00009
|
NM_000066.4(C8B):c.32C>T (p.Ala11Val)
|
rs375318933
|
0.00007
|
NM_000066.4(C8B):c.371G>C (p.Gly124Ala)
|
rs888935609
|
0.00007
|
NM_000066.4(C8B):c.754T>A (p.Ser252Thr)
|
rs201398867
|
0.00007
|
NM_000066.4(C8B):c.27G>A (p.Trp9Ter)
|
rs759074976
|
0.00006
|
NM_000066.4(C8B):c.820C>T (p.Arg274Ter)
|
rs140813121
|
0.00006
|
NM_000066.4(C8B):c.930C>T (p.Ser310=)
|
rs141429572
|
0.00006
|
NM_000066.4(C8B):c.1157G>A (p.Gly386Asp)
|
rs373307501
|
0.00005
|
NM_000066.4(C8B):c.1234+5G>C
|
rs202043901
|
0.00005
|
NM_000066.4(C8B):c.1405C>T (p.Pro469Ser)
|
rs142870813
|
0.00005
|
NM_000066.4(C8B):c.1622-3T>C
|
rs749563397
|
0.00005
|
NM_000066.4(C8B):c.318A>C (p.Glu106Asp)
|
rs373375237
|
0.00005
|
NM_000066.4(C8B):c.444C>G (p.Asp148Glu)
|
rs151302643
|
0.00005
|
NM_000066.4(C8B):c.1046T>C (p.Val349Ala)
|
rs768844606
|
0.00004
|
NM_000066.4(C8B):c.1442A>G (p.Tyr481Cys)
|
rs373866445
|
0.00004
|
NM_000066.4(C8B):c.1681C>T (p.Arg561Cys)
|
rs567887687
|
0.00004
|
NM_000066.4(C8B):c.1723A>G (p.Asn575Asp)
|
rs190080984
|
0.00004
|
NM_000066.4(C8B):c.250-12T>A
|
rs199751348
|
0.00004
|
NM_000066.4(C8B):c.276C>T (p.Pro92=)
|
rs138368595
|
0.00004
|
NM_000066.4(C8B):c.302A>G (p.Asn101Ser)
|
rs774905937
|
0.00004
|
NM_000066.4(C8B):c.406C>T (p.Arg136Cys)
|
rs376708486
|
0.00004
|
NM_000066.4(C8B):c.523C>G (p.Leu175Val)
|
rs377140731
|
0.00004
|
NM_000066.4(C8B):c.574G>C (p.Asp192His)
|
rs375513059
|
0.00004
|
NM_000066.4(C8B):c.887G>A (p.Arg296His)
|
rs781743688
|
0.00004
|
NM_000066.4(C8B):c.1445C>T (p.Ser482Phe)
|
rs776057562
|
0.00003
|
NM_000066.4(C8B):c.1558C>T (p.Arg520Cys)
|
rs778114966
|
0.00003
|
NM_000066.4(C8B):c.603C>T (p.Ser201=)
|
rs572299334
|
0.00003
|
NM_000066.4(C8B):c.666+19G>A
|
rs796619714
|
0.00003
|
NM_000066.4(C8B):c.990C>T (p.Tyr330=)
|
rs753625747
|
0.00003
|
NM_000066.4(C8B):c.1043C>T (p.Ala348Val)
|
rs369565521
|
0.00002
|
NM_000066.4(C8B):c.1553-14C>T
|
rs748411642
|
0.00002
|
NM_000066.4(C8B):c.1606G>A (p.Val536Ile)
|
rs377623911
|
0.00002
|
NM_000066.4(C8B):c.160C>T (p.Arg54Trp)
|
rs773352047
|
0.00002
|
NM_000066.4(C8B):c.187A>G (p.Ile63Val)
|
rs370368238
|
0.00002
|
NM_000066.4(C8B):c.682G>A (p.Glu228Lys)
|
rs770507328
|
0.00002
|
NM_000066.4(C8B):c.739A>T (p.Lys247Ter)
|
rs529668782
|
0.00002
|
NM_000066.4(C8B):c.748A>C (p.Ser250Arg)
|
rs768540351
|
0.00002
|
NM_000066.4(C8B):c.76A>G (p.Ser26Gly)
|
rs747253150
|
0.00002
|
NM_000066.4(C8B):c.805A>C (p.Ser269Arg)
|
rs752999987
|
0.00002
|
NM_000066.4(C8B):c.911A>G (p.Tyr304Cys)
|
rs1374819900
|
0.00002
|
NM_000066.4(C8B):c.928A>T (p.Ser310Cys)
|
rs371944655
|
0.00002
|
NM_000066.4(C8B):c.1013G>A (p.Arg338His)
|
rs762755903
|
0.00001
|
NM_000066.4(C8B):c.1071C>T (p.Thr357=)
|
rs376801002
|
0.00001
|
NM_000066.4(C8B):c.1123G>A (p.Val375Ile)
|
rs774792617
|
0.00001
|
NM_000066.4(C8B):c.113T>G (p.Phe38Cys)
|
rs753054383
|
0.00001
|
NM_000066.4(C8B):c.1234+13G>A
|
rs776860903
|
0.00001
|
NM_000066.4(C8B):c.1235A>G (p.Asp412Gly)
|
rs374700138
|
0.00001
|
NM_000066.4(C8B):c.1265A>C (p.Asp422Ala)
|
rs1434285462
|
0.00001
|
NM_000066.4(C8B):c.1276C>T (p.Leu426=)
|
rs760338411
|
0.00001
|
NM_000066.4(C8B):c.1322A>G (p.Gln441Arg)
|
rs766613171
|
0.00001
|
NM_000066.4(C8B):c.1331C>T (p.Pro444Leu)
|
rs371378397
|
0.00001
|
NM_000066.4(C8B):c.1375A>C (p.Asn459His)
|
rs750536393
|
0.00001
|
NM_000066.4(C8B):c.1382C>G (p.Ala461Gly)
|
rs757480558
|
0.00001
|
NM_000066.4(C8B):c.138C>T (p.Ser46=)
|
rs1402992781
|
0.00001
|
NM_000066.4(C8B):c.1399-16C>T
|
rs764403758
|
0.00001
|
NM_000066.4(C8B):c.1414G>A (p.Glu472Lys)
|
rs760262006
|
0.00001
|
NM_000066.4(C8B):c.1437T>A (p.Phe479Leu)
|
rs554618167
|
0.00001
|
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr)
|
rs924523629
|
0.00001
|
NM_000066.4(C8B):c.1524C>A (p.Cys508Ter)
|
rs1176902020
|
0.00001
|
NM_000066.4(C8B):c.1620G>C (p.Lys540Asn)
|
rs867004391
|
0.00001
|
NM_000066.4(C8B):c.1622A>G (p.Asn541Ser)
|
rs371789315
|
0.00001
|
NM_000066.4(C8B):c.1653G>A (p.Trp551Ter)
|
rs752357132
|
0.00001
|
NM_000066.4(C8B):c.1657A>G (p.Asn553Asp)
|
rs764821136
|
0.00001
|
NM_000066.4(C8B):c.1725T>C (p.Asn575=)
|
rs777890753
|
0.00001
|
NM_000066.4(C8B):c.178C>T (p.Leu60=)
|
rs1011323446
|
0.00001
|
NM_000066.4(C8B):c.352A>T (p.Ser118Cys)
|
rs199745832
|
0.00001
|
NM_000066.4(C8B):c.418T>C (p.Cys140Arg)
|
rs767375928
|
0.00001
|
NM_000066.4(C8B):c.511G>C (p.Gly171Arg)
|
rs756333844
|
0.00001
|
NM_000066.4(C8B):c.515T>C (p.Ile172Thr)
|
rs200647490
|
0.00001
|
NM_000066.4(C8B):c.660G>A (p.Thr220=)
|
rs370360066
|
0.00001
|
NM_000066.4(C8B):c.725G>A (p.Arg242His)
|
rs369993264
|
0.00001
|
NM_000066.4(C8B):c.835A>T (p.Ile279Phe)
|
rs199765748
|
0.00001
|
NM_000066.4(C8B):c.840G>A (p.Arg280=)
|
rs769763661
|
0.00001
|
NM_000066.4(C8B):c.851G>A (p.Arg284Gln)
|
rs202207968
|
0.00001
|
NM_000066.4(C8B):c.966G>A (p.Lys322=)
|
rs369652003
|
0.00001
|
NC_000001.10:g.(?_57415208)_(57415445_?)del
|
|
|
NC_000001.10:g.(?_57417701)_(57417873_?)del
|
|
|
NM_000066.4(C8B):c.1003G>A (p.Asp335Asn)
|
|
|
NM_000066.4(C8B):c.1005T>C (p.Asp335=)
|
|
|
NM_000066.4(C8B):c.1008C>G (p.Leu336=)
|
|
|
NM_000066.4(C8B):c.1008C>T (p.Leu336=)
|
|
|
NM_000066.4(C8B):c.1014T>A (p.Arg338=)
|
|
|
NM_000066.4(C8B):c.1017T>C (p.Asp339=)
|
|
|
NM_000066.4(C8B):c.1019T>G (p.Phe340Cys)
|
rs2101408311
|
|
NM_000066.4(C8B):c.1020T>C (p.Phe340=)
|
rs771458639
|
|
NM_000066.4(C8B):c.1023G>T (p.Gly341=)
|
rs1644933553
|
|
NM_000066.4(C8B):c.102G>A (p.Arg34=)
|
|
|
NM_000066.4(C8B):c.1031A>C (p.Tyr344Ser)
|
|
|
NM_000066.4(C8B):c.1031A>G (p.Tyr344Cys)
|
rs773539697
|
|
NM_000066.4(C8B):c.1038A>G (p.Thr346=)
|
|
|
NM_000066.4(C8B):c.1046T>A (p.Val349Glu)
|
|
|
NM_000066.4(C8B):c.104C>T (p.Pro35Leu)
|
|
|
NM_000066.4(C8B):c.1057A>G (p.Ile353Val)
|
|
|
NM_000066.4(C8B):c.1074C>A (p.Leu358=)
|
rs149848224
|
|
NM_000066.4(C8B):c.1074C>T (p.Leu358=)
|
rs149848224
|
|
NM_000066.4(C8B):c.1076T>G (p.Val359Gly)
|
rs2101407857
|
|
NM_000066.4(C8B):c.107A>C (p.His36Pro)
|
rs1487950063
|
|
NM_000066.4(C8B):c.1093dup (p.Met365fs)
|
|
|
NM_000066.4(C8B):c.1105+1G>A
|
|
|
NM_000066.4(C8B):c.1105+20A>G
|
|
|
NM_000066.4(C8B):c.1106-12T>C
|
|
|
NM_000066.4(C8B):c.1106-2A>G
|
|
|
NM_000066.4(C8B):c.1106-7del
|
|
|
NM_000066.4(C8B):c.1110T>C (p.Tyr370=)
|
|
|
NM_000066.4(C8B):c.1113T>C (p.Thr371=)
|
|
|
NM_000066.4(C8B):c.1115_1116del (p.Leu372fs)
|
|
|
NM_000066.4(C8B):c.1119C>T (p.Asn373=)
|
|
|
NM_000066.4(C8B):c.1122C>T (p.Asn374=)
|
|
|
NM_000066.4(C8B):c.1128T>C (p.His376=)
|
|
|
NM_000066.4(C8B):c.1141A>T (p.Asn381Tyr)
|
|
|
NM_000066.4(C8B):c.1142A>G (p.Asn381Ser)
|
|
|
NM_000066.4(C8B):c.1142dup (p.Asn381fs)
|
|
|
NM_000066.4(C8B):c.1157GTG[1] (p.Gly387del)
|
|
|
NM_000066.4(C8B):c.1164C>T (p.Ala388=)
|
|
|
NM_000066.4(C8B):c.1178A>G (p.Tyr393Cys)
|
|
|
NM_000066.4(C8B):c.1178A>T (p.Tyr393Phe)
|
rs778543261
|
|
NM_000066.4(C8B):c.1179C>T (p.Tyr393=)
|
|
|
NM_000066.4(C8B):c.1180G>A (p.Val394Ile)
|
|
|
NM_000066.4(C8B):c.1194G>C (p.Val398=)
|
|
|
NM_000066.4(C8B):c.1197T>C (p.Ser399=)
|
|
|
NM_000066.4(C8B):c.1208G>A (p.Cys403Tyr)
|
|
|
NM_000066.4(C8B):c.1234+14G>A
|
|
|
NM_000066.4(C8B):c.1234G>C (p.Asp412His)
|
rs1644899085
|
|
NM_000066.4(C8B):c.1235-20T>C
|
|
|
NM_000066.4(C8B):c.1235-3C>T
|
rs111404913
|
|
NM_000066.4(C8B):c.1254C>T (p.Thr418=)
|
|
|
NM_000066.4(C8B):c.1263_1264delinsAA (p.Asp422Asn)
|
|
|
NM_000066.4(C8B):c.1290G>C (p.Gly430=)
|
|
|
NM_000066.4(C8B):c.1298A>C (p.Glu433Ala)
|
|
|
NM_000066.4(C8B):c.1307C>G (p.Thr436Ser)
|
|
|
NM_000066.4(C8B):c.1326G>A (p.Glu442=)
|
|
|
NM_000066.4(C8B):c.1332G>A (p.Pro444=)
|
|
|
NM_000066.4(C8B):c.1334C>T (p.Thr445Met)
|
|
|
NM_000066.4(C8B):c.1335G>A (p.Thr445=)
|
|
|
NM_000066.4(C8B):c.1351G>T (p.Glu451Ter)
|
rs2101385559
|
|
NM_000066.4(C8B):c.1355G>A (p.Trp452Ter)
|
rs200077558
|
|
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)
|
rs200077558
|
|
NM_000066.4(C8B):c.1357G>C (p.Gly453Arg)
|
rs1644842359
|
|
NM_000066.4(C8B):c.1362C>T (p.Asp454=)
|
|
|
NM_000066.4(C8B):c.1363G>A (p.Ala455Thr)
|
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NM_000066.4(C8B):c.1365T>C (p.Ala455=)
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NM_000066.4(C8B):c.1376A>G (p.Asn459Ser)
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NM_000066.4(C8B):c.1381G>T (p.Ala461Ser)
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NM_000066.4(C8B):c.138del (p.Phe47fs)
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NM_000066.4(C8B):c.1398+10G>A
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NM_000066.4(C8B):c.1398+13G>C
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NM_000066.4(C8B):c.1398+13G>T
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NM_000066.4(C8B):c.1398+18A>G
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NM_000066.4(C8B):c.1398+19C>T
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NM_000066.4(C8B):c.1398+9C>T
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rs116348786
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NM_000066.4(C8B):c.1399-12T>C
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NM_000066.4(C8B):c.1399-18G>A
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NM_000066.4(C8B):c.1458G>A (p.Arg486=)
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NM_000066.4(C8B):c.1463A>G (p.Asn488Ser)
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rs2101357571
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NM_000066.4(C8B):c.1466T>G (p.Met489Arg)
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rs2101357545
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NM_000066.4(C8B):c.1479G>A (p.Leu493=)
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NM_000066.4(C8B):c.1498G>A (p.Val500Ile)
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rs2101357396
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NM_000066.4(C8B):c.149_153del (p.Ser50fs)
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NM_000066.4(C8B):c.1502G>C (p.Ser501Thr)
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NM_000066.4(C8B):c.1505C>A (p.Ser502Tyr)
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NM_000066.4(C8B):c.1512C>T (p.His504=)
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NM_000066.4(C8B):c.1552+2T>C
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NM_000066.4(C8B):c.1552+3A>G
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NM_000066.4(C8B):c.1553-2A>G
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NM_000066.4(C8B):c.1559G>A (p.Arg520His)
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rs779852251
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NM_000066.4(C8B):c.1577C>T (p.Pro526Leu)
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NM_000066.4(C8B):c.1591G>A (p.Gly531Ser)
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NM_000066.4(C8B):c.1598C>G (p.Ala533Gly)
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NM_000066.4(C8B):c.1599C>T (p.Ala533=)
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rs759908742
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NM_000066.4(C8B):c.1618A>T (p.Lys540Ter)
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NM_000066.4(C8B):c.1621+13G>A
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NM_000066.4(C8B):c.1622-11C>T
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NM_000066.4(C8B):c.1622-17G>A
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NM_000066.4(C8B):c.1622-4A>G
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NM_000066.4(C8B):c.1626C>G (p.Thr542=)
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NM_000066.4(C8B):c.1626C>T (p.Thr542=)
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NM_000066.4(C8B):c.1628C>A (p.Pro543His)
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rs746509547
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NM_000066.4(C8B):c.1641G>C (p.Lys547Asn)
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NM_000066.4(C8B):c.1642T>G (p.Trp548Gly)
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rs2101343704
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NM_000066.4(C8B):c.1643G>A (p.Trp548Ter)
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NM_000066.4(C8B):c.164G>T (p.Ser55Ile)
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NM_000066.4(C8B):c.1682G>A (p.Arg561His)
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NM_000066.4(C8B):c.1683T>C (p.Arg561=)
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NM_000066.4(C8B):c.1689A>G (p.Thr563=)
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NM_000066.4(C8B):c.1712C>T (p.Pro571Leu)
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rs775719725
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NM_000066.4(C8B):c.1717C>T (p.Pro573Ser)
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NM_000066.4(C8B):c.1719T>C (p.Pro573=)
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NM_000066.4(C8B):c.1746C>T (p.Gly582=)
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NM_000066.4(C8B):c.1747C>T (p.Pro583Ser)
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NM_000066.4(C8B):c.1761A>G (p.Thr587=)
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NM_000066.4(C8B):c.1767C>G (p.Asp589Glu)
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rs752783592
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NM_000066.4(C8B):c.1770C>T (p.Cys590=)
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NM_000066.4(C8B):c.1772C>T (p.Ser591Phe)
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NM_000066.4(C8B):c.180G>A (p.Leu60=)
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NM_000066.4(C8B):c.183G>A (p.Met61Ile)
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NM_000066.4(C8B):c.18A>G (p.Thr6=)
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NM_000066.4(C8B):c.192T>C (p.Asp64=)
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NM_000066.4(C8B):c.197del (p.Glu66fs)
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NM_000066.4(C8B):c.210G>A (p.Trp70Ter)
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NM_000066.4(C8B):c.21G>T (p.Trp7Cys)
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NM_000066.4(C8B):c.228T>C (p.Cys76=)
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NM_000066.4(C8B):c.231C>A (p.Asp77Glu)
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NM_000066.4(C8B):c.249+16T>G
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rs1645154342
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NM_000066.4(C8B):c.249+2T>A
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NM_000066.4(C8B):c.249+3A>G
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rs1465352454
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NM_000066.4(C8B):c.249G>T (p.Arg83Ser)
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NM_000066.4(C8B):c.250-7G>C
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rs2101453425
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NM_000066.4(C8B):c.255G>A (p.Arg85=)
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rs530181040
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NM_000066.4(C8B):c.285C>T (p.Phe95=)
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rs1213894478
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NM_000066.4(C8B):c.290G>A (p.Gly97Glu)
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NM_000066.4(C8B):c.296C>T (p.Pro99Leu)
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NM_000066.4(C8B):c.297G>T (p.Pro99=)
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rs151032934
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NM_000066.4(C8B):c.310G>A (p.Asp104Asn)
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rs969282586
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NM_000066.4(C8B):c.320T>G (p.Val107Gly)
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NM_000066.4(C8B):c.321C>T (p.Val107=)
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NM_000066.4(C8B):c.332T>C (p.Val111Ala)
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NM_000066.4(C8B):c.336del (p.Asn113fs)
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rs372968576
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NM_000066.4(C8B):c.33_34del (p.Pro12fs)
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NM_000066.4(C8B):c.343C>T (p.Pro115Ser)
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NM_000066.4(C8B):c.349= (p.Gly117=)
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NM_000066.4(C8B):c.355C>T (p.Gln119Ter)
|
rs760669928
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NM_000066.4(C8B):c.35C>T (p.Pro12Leu)
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NM_000066.4(C8B):c.361C>A (p.Arg121=)
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rs150022116
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NM_000066.4(C8B):c.361C>T (p.Arg121Ter)
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rs150022116
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NM_000066.4(C8B):c.36G>A (p.Pro12=)
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NM_000066.4(C8B):c.375T>G (p.Phe125Leu)
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NM_000066.4(C8B):c.383C>T (p.Ala128Val)
|
rs2101452663
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NM_000066.4(C8B):c.391+13_391+14insTAAATCAATGCAGGAG
|
rs759864328
|
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NM_000066.4(C8B):c.392-18dup
|
rs2101445218
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NM_000066.4(C8B):c.420C>T (p.Cys140=)
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NM_000066.4(C8B):c.42G>T (p.Glu14Asp)
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NM_000066.4(C8B):c.466A>G (p.Arg156Gly)
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NM_000066.4(C8B):c.469A>G (p.Arg157Gly)
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NM_000066.4(C8B):c.477T>G (p.Tyr159Ter)
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NM_000066.4(C8B):c.478A>T (p.Lys160Ter)
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NM_000066.4(C8B):c.486T>C (p.Cys162=)
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NM_000066.4(C8B):c.491A>G (p.His164Arg)
|
rs748659615
|
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NM_000066.4(C8B):c.493G>T (p.Glu165Ter)
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NM_000066.4(C8B):c.498G>A (p.Met166Ile)
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NM_000066.4(C8B):c.504A>C (p.Gln168His)
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NM_000066.4(C8B):c.505T>C (p.Tyr169His)
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NM_000066.4(C8B):c.507C>T (p.Tyr169=)
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NM_000066.4(C8B):c.521G>A (p.Ser174Asn)
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NM_000066.4(C8B):c.533+11A>T
|
rs530428491
|
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NM_000066.4(C8B):c.534-16T>C
|
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NM_000066.4(C8B):c.534-17C>T
|
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NM_000066.4(C8B):c.534-2A>G
|
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NM_000066.4(C8B):c.534-4A>G
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NM_000066.4(C8B):c.534-5C>T
|
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NM_000066.4(C8B):c.53del (p.Leu18fs)
|
rs1645249331
|
|
NM_000066.4(C8B):c.540T>C (p.Asn180=)
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NM_000066.4(C8B):c.549A>C (p.Thr183=)
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NM_000066.4(C8B):c.549A>G (p.Thr183=)
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NM_000066.4(C8B):c.550_553del (p.Asn184fs)
|
rs1464732473
|
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NM_000066.4(C8B):c.552C>T (p.Asn184=)
|
rs769039585
|
|
NM_000066.4(C8B):c.555T>C (p.Ser185=)
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NM_000066.4(C8B):c.581G>A (p.Arg194Lys)
|
rs866480176
|
|
NM_000066.4(C8B):c.588T>C (p.Tyr196=)
|
rs2101434705
|
|
NM_000066.4(C8B):c.61G>A (p.Ala21Thr)
|
|
|
NM_000066.4(C8B):c.61G>T (p.Ala21Ser)
|
rs1233092970
|
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NM_000066.4(C8B):c.623C>T (p.Thr208Met)
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|
NM_000066.4(C8B):c.659C>A (p.Thr220Lys)
|
rs374321085
|
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NM_000066.4(C8B):c.659C>T (p.Thr220Met)
|
rs374321085
|
|
NM_000066.4(C8B):c.661C>T (p.Pro221Ser)
|
|
|
NM_000066.4(C8B):c.666+15G>C
|
rs1357045534
|
|
NM_000066.4(C8B):c.666+9C>A
|
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NM_000066.4(C8B):c.667del (p.Thr223fs)
|
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|
NM_000066.4(C8B):c.669C>A (p.Thr223=)
|
rs2101424133
|
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NM_000066.4(C8B):c.66G>C (p.Leu22=)
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NM_000066.4(C8B):c.675C>A (p.Gly225=)
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NM_000066.4(C8B):c.69C>A (p.Gly23=)
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NM_000066.4(C8B):c.71G>A (p.Cys24Tyr)
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NM_000066.4(C8B):c.71_74del (p.Cys24fs)
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NM_000066.4(C8B):c.726C>T (p.Arg242=)
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NM_000066.4(C8B):c.729T>C (p.Asn243=)
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|
NM_000066.4(C8B):c.72T>C (p.Cys24=)
|
rs1431410078
|
|
NM_000066.4(C8B):c.742del (p.Met248fs)
|
|
|
NM_000066.4(C8B):c.745G>A (p.Ala249Thr)
|
|
|
NM_000066.4(C8B):c.770G>A (p.Gly257Asp)
|
|
|
NM_000066.4(C8B):c.777A>G (p.Lys259=)
|
|
|
NM_000066.4(C8B):c.793G>T (p.Glu265Ter)
|
rs1175509707
|
|
NM_000066.4(C8B):c.798T>C (p.Leu266=)
|
|
|
NM_000066.4(C8B):c.800G>A (p.Gly267Asp)
|
rs770553711
|
|
NM_000066.4(C8B):c.801C>T (p.Gly267=)
|
|
|
NM_000066.4(C8B):c.81G>T (p.Leu27Phe)
|
|
|
NM_000066.4(C8B):c.829C>G (p.His277Asp)
|
rs147387692
|
|
NM_000066.4(C8B):c.829C>T (p.His277Tyr)
|
rs147387692
|
|
NM_000066.4(C8B):c.833A>G (p.Tyr278Cys)
|
|
|
NM_000066.4(C8B):c.838A>C (p.Arg280=)
|
|
|
NM_000066.4(C8B):c.846C>A (p.Thr282=)
|
|
|
NM_000066.4(C8B):c.850C>T (p.Arg284Ter)
|
|
|
NM_000066.4(C8B):c.860A>G (p.His287Arg)
|
|
|
NM_000066.4(C8B):c.864+14T>C
|
|
|
NM_000066.4(C8B):c.864+15G>A
|
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|
NM_000066.4(C8B):c.864+15G>T
|
|
|
NM_000066.4(C8B):c.864+15_864+16del
|
|
|
NM_000066.4(C8B):c.864+5G>A
|
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|
NM_000066.4(C8B):c.865-16T>C
|
|
|
NM_000066.4(C8B):c.865-1G>C
|
|
|
NM_000066.4(C8B):c.865-5T>C
|
|
|
NM_000066.4(C8B):c.869G>A (p.Ser290Asn)
|
|
|
NM_000066.4(C8B):c.870C>G (p.Ser290Arg)
|
|
|
NM_000066.4(C8B):c.870C>T (p.Ser290=)
|
|
|
NM_000066.4(C8B):c.871G>A (p.Val291Ile)
|
|
|
NM_000066.4(C8B):c.881A>G (p.His294Arg)
|
rs2101409170
|
|
NM_000066.4(C8B):c.886C>T (p.Arg296Cys)
|
|
|
NM_000066.4(C8B):c.891T>A (p.Ser297=)
|
|
|
NM_000066.4(C8B):c.894C>T (p.Asp298=)
|
|
|
NM_000066.4(C8B):c.895C>T (p.Leu299Phe)
|
|
|
NM_000066.4(C8B):c.906A>C (p.Ala302=)
|
|
|
NM_000066.4(C8B):c.906A>G (p.Ala302=)
|
|
|
NM_000066.4(C8B):c.910T>C (p.Tyr304His)
|
|
|
NM_000066.4(C8B):c.915G>T (p.Lys305Asn)
|
|
|
NM_000066.4(C8B):c.92+12T>C
|
|
|
NM_000066.4(C8B):c.92+2T>A
|
rs2101487641
|
|
NM_000066.4(C8B):c.934A>G (p.Met312Val)
|
|
|
NM_000066.4(C8B):c.934dup (p.Met312fs)
|
rs2101408848
|
|
NM_000066.4(C8B):c.935dup (p.Met312fs)
|
|
|
NM_000066.4(C8B):c.945C>T (p.Tyr315=)
|
|
|
NM_000066.4(C8B):c.946G>A (p.Glu316Lys)
|
rs201686818
|
|
NM_000066.4(C8B):c.964A>C (p.Lys322Gln)
|
|
|
NM_000066.4(C8B):c.993G>C (p.Gly331=)
|
|
|