ClinVar Miner

List of variants in gene F8

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1057
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
NM_000132.4(F8):c.5998+91T>A rs4898352 0.43854
NM_000132.4(F8):c.6115+103T>C rs4074307 0.43589
NM_000132.4(F8):c.788-343C>G rs1936645 0.41321
NM_000132.4(F8):c.601+1893T>C rs5945269 0.18744
NM_000132.4(F8):c.1010-27G>A rs7058826 0.13707
NM_000132.4(F8):c.3864A>C (p.Ser1288=) rs1800292 0.09246
NM_000132.4(F8):c.6769A>G (p.Met2257Val) rs1800297 0.07378
NM_000132.4(F8):c.4500G>A (p.Pro1500=) rs33921347 0.01389
NM_000132.4(F8):c.*29C>T rs5986887 0.01323
NM_000132.4(F8):c.1086G>A (p.Ala362=) rs1800289 0.01123
NM_000132.4(F8):c.1444-22T>C rs5986899 0.01075
NM_000132.4(F8):c.266-19G>A rs28370201 0.00623
NM_000132.4(F8):c.670+31C>G rs34277626 0.00585
NM_000132.4(F8):c.1508G>A (p.Arg503His) rs35383156 0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln) rs149853218 0.00419
NM_000132.4(F8):c.3621C>T (p.His1207=) rs28370212 0.00371
NM_000132.4(F8):c.389-9C>T rs35621875 0.00356
NM_000132.4(F8):c.2114-100A>G rs36044968 0.00349
NM_000132.4(F8):c.2947G>A (p.Val983Ile) rs35295375 0.00205
NM_000132.4(F8):c.3236G>A (p.Arg1079Lys) rs143174629 0.00136
NM_000132.4(F8):c.4467C>G (p.Val1489=) rs35207609 0.00134
NM_000132.4(F8):c.4333T>C (p.Ser1445Pro) rs146153504 0.00129
NM_000132.4(F8):c.*1379A>G rs36101366 0.00127
NM_000132.4(F8):c.2214C>T (p.Tyr738=) rs78373805 0.00125
NM_000132.4(F8):c.*1001C>T rs183289212 0.00107
NM_000132.4(F8):c.2453C>T (p.Thr818Ile) rs142274278 0.00080
NM_000132.4(F8):c.102C>T (p.Asp34=) rs1800283 0.00070
NM_000132.4(F8):c.5219+12T>C rs190152270 0.00067
NM_000132.4(F8):c.*1214G>A rs34700571 0.00054
NM_000132.4(F8):c.*426G>A rs782273756 0.00052
NM_000132.4(F8):c.5430T>G (p.Ser1810=) rs142177821 0.00050
NM_000132.4(F8):c.*78C>T rs782435894 0.00047
NM_000132.4(F8):c.6115+27C>T rs375609267 0.00039
NM_000132.4(F8):c.4759G>A (p.Asp1587Asn) rs142347597 0.00029
NM_000132.4(F8):c.601+17G>A rs200951849 0.00024
NM_000132.4(F8):c.190G>A (p.Val64Met) rs187738612 0.00022
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000132.4(F8):c.*30G>A rs376482768 0.00020
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.1064G>A (p.Arg355Gln) rs146581224 0.00019
NM_000132.4(F8):c.6276G>A (p.Val2092=) rs199522131 0.00019
NM_000132.4(F8):c.*1166A>G rs984572217 0.00018
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.2887G>A (p.Asp963Asn) rs199660138 0.00017
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys) rs139451429 0.00017
NM_000132.4(F8):c.1272-5T>C rs377416503 0.00016
NM_000132.4(F8):c.2383A>G (p.Arg795Gly) rs2228152 0.00016
NM_000132.4(F8):c.2212T>G (p.Tyr738Asp) rs201721215 0.00015
NM_000132.4(F8):c.3399A>G (p.Gly1133=) rs200042130 0.00015
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000132.4(F8):c.1501G>A (p.Asp501Asn) rs147200025 0.00013
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000132.4(F8):c.3885C>G (p.Asn1295Lys) rs201393905 0.00011
NM_000132.4(F8):c.3980C>T (p.Thr1327Met) rs200520711 0.00011
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000132.4(F8):c.*1731T>C rs782700848 0.00010
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
NM_000132.4(F8):c.1666G>A (p.Val556Ile) rs372867215 0.00009
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.6696A>G (p.Gln2232=) rs201870876 0.00009
NM_000132.4(F8):c.1387C>T (p.His463Tyr) rs193028861 0.00008
NM_000132.4(F8):c.2696G>A (p.Ser899Asn) rs145089334 0.00008
NM_000132.4(F8):c.6724G>A (p.Val2242Met) rs782654096 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000132.4(F8):c.3996A>G (p.Arg1332=) rs782379086 0.00007
NM_000132.4(F8):c.4442T>C (p.Leu1481Pro) rs1800294 0.00007
NM_000132.4(F8):c.5291A>G (p.Gln1764Arg) rs374988541 0.00007
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000132.4(F8):c.4531G>A (p.Val1511Ile) rs186353717 0.00006
NM_000132.4(F8):c.5200C>T (p.Pro1734Ser) rs782324012 0.00006
NM_000132.4(F8):c.5604A>T (p.Ser1868=) rs782028903 0.00006
NM_000132.4(F8):c.121G>T (p.Gly41Cys) rs137852379 0.00005
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2217G>A (p.Glu739=) rs781850654 0.00005
NM_000132.4(F8):c.2299C>T (p.His767Tyr) rs782115513 0.00005
NM_000132.4(F8):c.2840C>G (p.Pro947Arg) rs782318401 0.00005
NM_000132.4(F8):c.4182G>A (p.Thr1394=) rs782797370 0.00005
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg) rs782280813 0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr) rs782363141 0.00005
NM_000132.4(F8):c.748A>G (p.Met250Val) rs781943293 0.00005
NM_000132.4(F8):c.*460G>A rs782195878 0.00004
NM_000132.4(F8):c.3376A>T (p.Arg1126Trp) rs199630813 0.00004
NM_000132.4(F8):c.3534G>C (p.Lys1178Asn) rs1279491966 0.00004
NM_000132.4(F8):c.4045A>G (p.Arg1349Gly) rs937701134 0.00004
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser) rs782127226 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys) rs781886601 0.00004
NM_000132.4(F8):c.*1175G>C rs950453657 0.00003
NM_000132.4(F8):c.*1416G>T rs186338743 0.00003
NM_000132.4(F8):c.*288C>A rs1044626956 0.00003
NM_000132.4(F8):c.1700T>C (p.Ile567Thr) rs782193428 0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_000132.4(F8):c.2535C>A (p.Asp845Glu) rs200316756 0.00003
NM_000132.4(F8):c.2852C>G (p.Ser951Cys) rs138183956 0.00003
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser) rs781812149 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys) rs781792644 0.00003
NM_000132.4(F8):c.5950G>C (p.Val1984Leu) rs782504844 0.00003
NM_000132.4(F8):c.6871A>G (p.Thr2291Ala) rs139348729 0.00003
NM_000132.4(F8):c.6901-725T>C rs1393847621 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000132.4(F8):c.*1362A>T rs1032816312 0.00002
NM_000132.4(F8):c.*915G>A rs1259930797 0.00002
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000132.4(F8):c.1093T>C (p.Tyr365His) rs782216863 0.00002
NM_000132.4(F8):c.1279A>G (p.Lys427Glu) rs1279399363 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.2215G>A (p.Glu739Lys) rs28937285 0.00002
NM_000132.4(F8):c.2550G>T (p.Leu850=) rs782777398 0.00002
NM_000132.4(F8):c.3981G>A (p.Thr1327=) rs374245599 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr) rs782123880 0.00002
NM_000132.4(F8):c.5999-11G>A rs782132907 0.00002
NM_000132.4(F8):c.601+1632G>A rs387906429 0.00002
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys) rs137852467 0.00002
NM_000132.4(F8):c.6652A>G (p.Met2218Val) rs782627131 0.00002
NM_000132.4(F8):c.*975A>G rs892955433 0.00001
NM_000132.4(F8):c.-157A>G rs1057515826 0.00001
NM_000132.4(F8):c.1063C>T (p.Arg355Ter) rs137852368 0.00001
NM_000132.4(F8):c.1173C>T (p.Arg391=) rs1411642179 0.00001
NM_000132.4(F8):c.1231G>A (p.Asp411Asn) rs1324147584 0.00001
NM_000132.4(F8):c.1316G>T (p.Gly439Val) rs1362305882 0.00001
NM_000132.4(F8):c.144-13T>G rs782248521 0.00001
NM_000132.4(F8):c.1569G>T (p.Leu523=) rs782733685 0.00001
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.1587A>G (p.Lys529=) rs1369480074 0.00001
NM_000132.4(F8):c.1648C>T (p.Arg550Cys) rs137852417 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1660A>G (p.Ser554Gly) rs137852419 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.2167G>A (p.Ala723Thr) rs137852436 0.00001
NM_000132.4(F8):c.2243A>G (p.Tyr748Cys) rs1160871723 0.00001
NM_000132.4(F8):c.2732A>G (p.Asp911Gly) rs782671808 0.00001
NM_000132.4(F8):c.3163G>A (p.Asp1055Asn) rs140027831 0.00001
NM_000132.4(F8):c.3603A>T (p.Leu1201Phe) rs782048928 0.00001
NM_000132.4(F8):c.3986G>A (p.Arg1329His) rs782767347 0.00001
NM_000132.4(F8):c.4411A>G (p.Met1471Val) rs782058716 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5012G>A (p.Arg1671His) rs782166477 0.00001
NM_000132.4(F8):c.5063C>T (p.Ser1688Leu) rs782235155 0.00001
NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe) rs28935203 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5303G>A (p.Arg1768His) rs151202877 0.00001
NM_000132.4(F8):c.5398C>T (p.Arg1800Cys) rs137852443 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.5976G>A (p.Met1992Ile) rs782510443 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6323C>T (p.Ala2108Val) rs782094982 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6381T>C (p.Asp2127=) rs782214402 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000132.4(F8):c.6622C>G (p.Gln2208Glu) rs1472169963 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000132.4(F8):c.6658G>C (p.Ala2220Pro) rs782548763 0.00001
NM_000132.4(F8):c.6849C>T (p.Ser2283=) rs1319284046 0.00001
NM_000132.4(F8):c.6932C>A (p.Pro2311His) rs1047644991 0.00001
NM_000132.4(F8):c.6955C>T (p.Pro2319Ser) rs137852374 0.00001
NM_000132.4(F8):c.6957G>A (p.Pro2319=) rs200902529 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.6991A>T (p.Ser2331Cys) rs1557271047 0.00001
NM_000132.4(F8):c.940A>G (p.Thr314Ala) rs137852406 0.00001
NM_000132.4(F8):c.978A>G (p.Leu326=) rs782374508 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
Exon 5 deletion, about 2 kb
F8, 23-BP DEL, FS
F8, 89-BP DEL, FS
F8, EX11-18DEL
F8, EX15-22DEL
F8, EX15DEL
F8, EX23-25DEL
F8, EX23-26DEL
F8, EX26DEL
F8, EX5DEL
F8, IVS22 INV
NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del
NC_000023.10:g.(154134849_154156845)_(154159952_154175972)dup
NC_000023.10:g.(154159952_154175972)_(154176183_154182166)dup
NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del
NC_000023.10:g.(?_154064066)_(154066028_154088706)del
NC_000023.10:g.154182167_154227754inv
NC_000023.11:g.(154930804_?)_(?_154933516)del
NC_000023.11:g.(154959165_?)_(?_154963500)del
NC_000023.11:g.(154986438_154987103)_(154997096_154997956)del
NC_000023.11:g.(154999601_155022409)del
NC_000023.11:g.(?_154835791)_(154837753_154860431)del
NC_000023.11:g.(?_154835791)_(154837753_?)del
NC_000023.11:g.(?_154835791_(154905024_154906419)del
NC_000023.11:g.(?_155022409)_(155022724_?)del
NC_000023.11:g.154901441CT[1]
NC_000023.11:g.154966457A>C
NG_011403.1:g.2114_5221del
NG_011403.2:g.(123429_123635)_(125674_126281)del
NG_011403.2:g.(123819_125556)_(127859_131491)del
NG_011403.2:g.(127859_131491)_(131648_164496)del
NG_011403.2:g.(131648_164496)_(167293_189971)del
NG_011403.2:g.(164642_165857)_(167293_189971)del
NG_011403.2:g.(28246_30628)_(30752_34575)del
NG_011403.2:g.(28246_30628)_(80027_96047)del
NG_011403.2:g.(30752_34575)_(167293_189971)del
NG_011403.2:g.(30752_34575)_(66650_70552)del
NG_011403.2:g.(34789_40418)_(43038_58171)del
NG_011403.2:g.(43038_58171)_(61755_66555)del
NG_011403.2:g.(43038_58171)_(99154_121150)del
NG_011403.2:g.(5000_5315)_(40488_42920)del
NG_011403.2:g.(5315_28123)_(30752_30752)del
NG_011403.2:g.(5315_28123)_(34789_40418)del
NG_011403.2:g.(80027_96047)_(127859_131491)del
NG_011403.2:g.(80027_96047)_(131648_164496)del
NG_011403.2:g.(80027_96047)_(99154_121150)del
NG_011403.2:g.(99154_121150)_(123819_125556)del
NG_011403.2:g.2731_26150dup
NG_011403.2:g.70398_70399insL170382_70398dup
NG_011403.2:g.97660_97662delinsAluYb8
NM_000132.3(F8):c.-219C>T
NM_000132.3(F8):c.2114-?_5219+?del (p.?)
NM_000132.4(F8):c.*1017C>A rs1603430909
NM_000132.4(F8):c.*176G>A rs2072481964
NM_000132.4(F8):c.*418TC[1] rs1057515825
NM_000132.4(F8):c.*56G>T rs2072483147
NM_000132.4(F8):c.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.-860A>G
NM_000132.4(F8):c.1010-9T>A rs1603435287
NM_000132.4(F8):c.1015A>G (p.Met339Val)
NM_000132.4(F8):c.101A>T (p.Asp34Val)
NM_000132.4(F8):c.1020A>C (p.Glu340Asp) rs1603435286
NM_000132.4(F8):c.1026T>A (p.Tyr342Ter) rs137852408
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
NM_000132.4(F8):c.1033G>T (p.Val345Leu) rs137852371
NM_000132.4(F8):c.1034T>C (p.Val345Ala) rs1189348665
NM_000132.4(F8):c.1043G>C (p.Cys348Ser) rs137852410
NM_000132.4(F8):c.104A>G (p.Tyr35Cys) rs137852476
NM_000132.4(F8):c.1073dup (p.Asn358fs) rs1603435281
NM_000132.4(F8):c.1077_1080del (p.Asn359fs) rs387906431
NM_000132.4(F8):c.1078_1079del (p.Glu360fs) rs387906440
NM_000132.4(F8):c.1097A>G (p.Asp366Gly)
NM_000132.4(F8):c.1120del (p.Met374fs)
NM_000132.4(F8):c.1138G>A (p.Asp380Asn)
NM_000132.4(F8):c.1167A>G (p.Gln389=)
NM_000132.4(F8):c.1169T>C (p.Ile390Thr) rs2124106062
NM_000132.4(F8):c.1171C>T (p.Arg391Cys) rs137852364
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1174T>C (p.Ser392Pro) rs28933669
NM_000132.4(F8):c.1175C>A (p.Ser392Ter) rs28933668
NM_000132.4(F8):c.1175C>T (p.Ser392Leu) rs28933668
NM_000132.4(F8):c.1180del (p.Ala394fs)
NM_000132.4(F8):c.1181C>A (p.Ala394Asp)
NM_000132.4(F8):c.1197_1198del (p.Lys399fs) rs387906441
NM_000132.4(F8):c.1202G>A (p.Trp401Ter) rs2073424782
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1210T>G (p.Tyr404Asp)
NM_000132.4(F8):c.1213A>T (p.Ile405Phe)
NM_000132.4(F8):c.1214T>C (p.Ile405Thr)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.121G>A (p.Gly41Ser)
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1241A>G (p.Tyr414Cys)
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1244C>T (p.Ala415Val)
NM_000132.4(F8):c.1247C>T (p.Pro416Leu)
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1264G>A (p.Asp422Asn)
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1280A>G (p.Lys427Arg)
NM_000132.4(F8):c.1284_1285delinsGT (p.Ser428_Gln429delinsArgTer) rs2124105418
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1301G>T (p.Gly434Val) rs1569559866
NM_000132.4(F8):c.1309C>T (p.Arg437Trp)
NM_000132.4(F8):c.1312A>T (p.Ile438Phe)
NM_000132.4(F8):c.1316G>A (p.Gly439Asp)
NM_000132.4(F8):c.1327_1339del (p.Lys443fs)
NM_000132.4(F8):c.1331A>C (p.Lys444Thr)
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1331_1332delinsC (p.Lys444fs)
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1333G>A (p.Val445Ile)
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1341T>G (p.Phe447Leu)
NM_000132.4(F8):c.1342A>G (p.Met448Val)
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1349A>G (p.Tyr450Cys)
NM_000132.4(F8):c.1350C>A (p.Tyr450Ter) rs1557281954
NM_000132.4(F8):c.1352_1353del (p.Thr451fs) rs1603435220
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1373G>A (p.Arg458His)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1409C>G (p.Pro470Arg)
NM_000132.4(F8):c.1417T>C (p.Tyr473His) rs387906443
NM_000132.4(F8):c.1418A>G (p.Tyr473Cys) rs387906444
NM_000132.4(F8):c.1420G>A (p.Gly474Arg)
NM_000132.4(F8):c.1420G>C (p.Gly474Arg)
NM_000132.4(F8):c.1420G>T (p.Gly474Trp)
NM_000132.4(F8):c.1421G>A (p.Gly474Glu)
NM_000132.4(F8):c.1423G>A (p.Glu475Lys)
NM_000132.4(F8):c.143+1116_143+1742del rs2073755958
NM_000132.4(F8):c.1430G>T (p.Gly477Val) rs2124105158
NM_000132.4(F8):c.1439T>C (p.Leu480Pro) rs1256548419
NM_000132.4(F8):c.143G>A (p.Arg48Lys) rs1261929809
NM_000132.4(F8):c.144-14_144-10del
NM_000132.4(F8):c.144-26A>C
NM_000132.4(F8):c.1443+18T>G rs782583179
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1443+5G>A rs1195283929
NM_000132.4(F8):c.1444-3C>G rs1603435027
NM_000132.4(F8):c.1457A>T (p.Asn486Ile)
NM_000132.4(F8):c.1462G>C (p.Ala488Pro)
NM_000132.4(F8):c.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1474T>C (p.Tyr492His)
NM_000132.4(F8):c.1475A>G (p.Tyr492Cys)
NM_000132.4(F8):c.1481T>C (p.Ile494Thr) rs137852413
NM_000132.4(F8):c.1481T>G (p.Ile494Ser) rs137852413
NM_000132.4(F8):c.1485C>G (p.Tyr495Ter) rs2124099224
NM_000132.4(F8):c.1492G>A (p.Gly498Arg) rs137852414
NM_000132.4(F8):c.1504G>T (p.Val502Phe) rs2073393106
NM_000132.4(F8):c.1506_1516del (p.Arg503fs) rs2124099163
NM_000132.4(F8):c.1520C>G (p.Ser507Ter)
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1551G>A (p.Leu517=) rs2073369309
NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
NM_000132.4(F8):c.157G>C (p.Val53Leu)
NM_000132.4(F8):c.1589A>G (p.Tyr530Cys) rs1557281265
NM_000132.4(F8):c.1596dup (p.Thr533fs) rs387906445
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1621A>T (p.Thr541Ser) rs139526001
NM_000132.4(F8):c.1630G>A (p.Asp544Asn) rs137852415
NM_000132.4(F8):c.1636C>T (p.Arg546Trp) rs137852416
NM_000132.4(F8):c.1637G>A (p.Arg546Gln)
NM_000132.4(F8):c.1639T>C (p.Cys547Arg)
NM_000132.4(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.4(F8):c.1652A>G (p.Tyr551Cys) rs2073368605
NM_000132.4(F8):c.1654T>C (p.Tyr552His) rs1603434863
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1658C>G (p.Ser553Cys)
NM_000132.4(F8):c.1682A>G (p.Asp561Gly) rs137852420
NM_000132.4(F8):c.1696C>T (p.Leu566Phe) rs2124094420
NM_000132.4(F8):c.1701del (p.Ile567fs)
NM_000132.4(F8):c.170_179dup (p.Thr61fs) rs2124149047
NM_000132.4(F8):c.1712T>G (p.Leu571Arg)
NM_000132.4(F8):c.1717T>C (p.Cys573Arg)
NM_000132.4(F8):c.1718G>T (p.Cys573Phe)
NM_000132.4(F8):c.1724A>C (p.Lys575Thr) rs2073367952
NM_000132.4(F8):c.1726G>T (p.Glu576Ter) rs137852421
NM_000132.4(F8):c.1727A>T (p.Glu576Val)
NM_000132.4(F8):c.1729T>C (p.Ser577Pro) rs387906446
NM_000132.4(F8):c.1730C>T (p.Ser577Phe) rs28937282
NM_000132.4(F8):c.1750C>A (p.Gln584Lys) rs137852422
NM_000132.4(F8):c.1750del (p.Gln584fs) rs2124094327
NM_000132.4(F8):c.1752+5G>T rs2124094299
NM_000132.4(F8):c.1754T>C (p.Ile585Thr) rs137852376
NM_000132.4(F8):c.1778T>A (p.Ile593Asn) rs1557280964
NM_000132.4(F8):c.1781T>C (p.Leu594Pro)
NM_000132.4(F8):c.1784T>C (p.Phe595Ser) rs2073351165
NM_000132.4(F8):c.1804C>G (p.Arg602Gly) rs137852424
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1805G>A (p.Arg602Gln)
NM_000132.4(F8):c.1808G>A (p.Ser603Asn)
NM_000132.4(F8):c.1808G>T (p.Ser603Ile) rs137852425
NM_000132.4(F8):c.1812G>A (p.Trp604Ter) rs137852426
NM_000132.4(F8):c.1812G>C (p.Trp604Cys) rs137852426
NM_000132.4(F8):c.1814A>C (p.Tyr605Ser) rs137852427
NM_000132.4(F8):c.1825A>C (p.Asn609His) rs2073350730
NM_000132.4(F8):c.1830A>G (p.Ile610Met) rs931279960
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1847A>G (p.Asn616Ser)
NM_000132.4(F8):c.1848T>C (p.Asn616=) rs1603434700
NM_000132.4(F8):c.187G>A (p.Val63Ile)
NM_000132.4(F8):c.1892A>G (p.Asn631Ser) rs137852429
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1898T>G (p.Met633Arg) rs1603434697
NM_000132.4(F8):c.1899G>T (p.Met633Ile)
NM_000132.4(F8):c.1903+5G>A rs2124090120
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.1904-736_2113+2563dup
NM_000132.4(F8):c.1904G>A (p.Ser635Asn)
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.191T>G (p.Val64Gly)
NM_000132.4(F8):c.192_193del (p.Tyr65fs)
NM_000132.4(F8):c.1930T>G (p.Leu644Val) rs2124082414
NM_000132.4(F8):c.1941_1944del (p.Leu650fs) rs2124082382
NM_000132.4(F8):c.1952A>C (p.His651Pro) rs1569559758
NM_000132.4(F8):c.1957G>A (p.Val653Met) rs137852431
NM_000132.4(F8):c.1958T>C (p.Val653Ala) rs137852430
NM_000132.4(F8):c.1965C>G (p.Tyr655Ter) rs137852432
NM_000132.4(F8):c.1969T>C (p.Tyr657His) rs2124082280
NM_000132.4(F8):c.1970A>G (p.Tyr657Cys)
NM_000132.4(F8):c.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.1991A>C (p.Gln664Pro)
NM_000132.4(F8):c.1996_1999dup (p.Phe667Ter)
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
NM_000132.4(F8):c.2006C>T (p.Ser669Phe)
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.2029T>C (p.Phe677Leu) rs137852434
NM_000132.4(F8):c.2043G>A (p.Met681Ile)
NM_000132.4(F8):c.2043G>C (p.Met681Ile) rs1603434460
NM_000132.4(F8):c.2044G>T (p.Val682Phe) rs1569559755
NM_000132.4(F8):c.2045T>C (p.Val682Ala)
NM_000132.4(F8):c.2048A>G (p.Tyr683Cys) rs1384374956
NM_000132.4(F8):c.2056A>G (p.Thr686Ala)
NM_000132.4(F8):c.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2065C>G (p.Leu689Val)
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
NM_000132.4(F8):c.2092T>G (p.Phe698Val)
NM_000132.4(F8):c.2098T>C (p.Ser700Pro)
NM_000132.4(F8):c.2099C>T (p.Ser700Leu) rs1359096117
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2101A>G (p.Met701Val) rs2073313804
NM_000132.4(F8):c.2103G>A (p.Met701Ile)
NM_000132.4(F8):c.2110C>T (p.Pro704Ser)
NM_000132.4(F8):c.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2113+471_2113+473dup
NM_000132.4(F8):c.2113+472_2113+473del
NM_000132.4(F8):c.2114-6139C>T
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.2114G>A (p.Gly705Asp)
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2138A>T (p.Asn713Ile)
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2161A>C (p.Met721Leu) rs1305924233
NM_000132.4(F8):c.2162T>C (p.Met721Thr) rs1314906579
NM_000132.4(F8):c.2163G>T (p.Met721Ile) rs1218576358
NM_000132.4(F8):c.2179G>T (p.Val727Phe)
NM_000132.4(F8):c.2186G>C (p.Ser729Thr)
NM_000132.4(F8):c.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.2214C>A (p.Tyr738Ter)
NM_000132.4(F8):c.221C>T (p.Thr74Met)
NM_000132.4(F8):c.2234T>C (p.Ile745Thr)
NM_000132.4(F8):c.225T>A (p.Asp75Glu)
NM_000132.4(F8):c.2309C>G (p.Thr770Ser)
NM_000132.4(F8):c.2336C>G (p.Thr779Arg)
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.2377G>T (p.Ala793Ser)
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.241G>A (p.Ala81Thr)
NM_000132.4(F8):c.241G>T (p.Ala81Ser)
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2441G>A (p.Arg814Gln)
NM_000132.4(F8):c.244A>G (p.Lys82Glu) rs1283070296
NM_000132.4(F8):c.246G>T (p.Lys82Asn)
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.2521C>T (p.Pro841Ser)
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
NM_000132.4(F8):c.2594A>T (p.Asp865Val)
NM_000132.4(F8):c.2618G>A (p.Gly873Asp) rs2073195544
NM_000132.4(F8):c.2627T>A (p.Leu876Ter) rs2073195449
NM_000132.4(F8):c.262A>G (p.Met88Val) rs782731044
NM_000132.4(F8):c.265+4A>G
NM_000132.4(F8):c.265G>A (p.Gly89Ser)
NM_000132.4(F8):c.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.2685C>A (p.Phe895Leu)
NM_000132.4(F8):c.26T>G (p.Phe9Cys)
NM_000132.4(F8):c.270del (p.Leu90_Leu91insTer) rs1557285171
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2720C>T (p.Thr907Ile)
NM_000132.4(F8):c.2727A>G (p.Pro909=)
NM_000132.4(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.4(F8):c.274G>A (p.Gly92Ser)
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.2771G>C (p.Gly924Ala)
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.2803C>T (p.Gln935Ter) rs372337556
NM_000132.4(F8):c.2805A>T (p.Gln935His)
NM_000132.4(F8):c.2831del (p.Lys944fs)
NM_000132.4(F8):c.2839C>T (p.Pro947Ser)
NM_000132.4(F8):c.2846C>T (p.Thr949Ile)
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2885A>G (p.Asn962Ser)
NM_000132.4(F8):c.2902G>C (p.Glu968Gln)
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945del (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
NM_000132.4(F8):c.2947G>C (p.Val983Leu)
NM_000132.4(F8):c.2954C>T (p.Ser985Leu)
NM_000132.4(F8):c.2961G>A (p.Glu987=)
NM_000132.4(F8):c.2961G>C (p.Glu987Asp)
NM_000132.4(F8):c.2962_2963del (p.Ser988fs) rs387906448
NM_000132.4(F8):c.296T>A (p.Val99Asp) rs137852382
NM_000132.4(F8):c.296T>C (p.Val99Ala) rs137852382
NM_000132.4(F8):c.2974_2977del (p.Phe992fs) rs2124052011
NM_000132.4(F8):c.2987G>A (p.Arg996Lys)
NM_000132.4(F8):c.2T>A (p.Met1Lys)
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
NM_000132.4(F8):c.3064A>G (p.Thr1022Ala)
NM_000132.4(F8):c.308T>C (p.Val103Ala) rs2073621465
NM_000132.4(F8):c.3091_3094del (p.Lys1031fs) rs1375894900
NM_000132.4(F8):c.3106G>C (p.Gly1036Arg)
NM_000132.4(F8):c.311T>A (p.Val104Asp) rs137852383
NM_000132.4(F8):c.312C>A (p.Val104=)
NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)
NM_000132.4(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.4(F8):c.3144G>T (p.Trp1048Cys) rs1060499784
NM_000132.4(F8):c.3145C>A (p.Gln1049Lys)
NM_000132.4(F8):c.3196C>T (p.His1066Tyr)
NM_000132.4(F8):c.3203del (p.Arg1068fs)
NM_000132.4(F8):c.3213G>A (p.Met1071Ile)
NM_000132.4(F8):c.323A>C (p.Lys108Thr) rs137852384
NM_000132.4(F8):c.3247_3248del (p.Met1083fs) rs1603433803
NM_000132.4(F8):c.3255_3259del (p.Lys1086fs)
NM_000132.4(F8):c.3263C>T (p.Thr1088Ile)
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.3280G>A (p.Glu1094Lys) rs377119670
NM_000132.4(F8):c.328A>G (p.Met110Val) rs137852385
NM_000132.4(F8):c.3300dup (p.Glu1101fs)
NM_000132.4(F8):c.332C>T (p.Ala111Val)
NM_000132.4(F8):c.3342G>A (p.Ser1114=)
NM_000132.4(F8):c.3352A>G (p.Met1118Val)
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3361T>G (p.Leu1121Val)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.338A>G (p.His113Arg)
NM_000132.4(F8):c.3409C>A (p.Leu1137Met)
NM_000132.4(F8):c.344T>C (p.Val115Ala)
NM_000132.4(F8):c.3465dup (p.Ser1156fs)
NM_000132.4(F8):c.34T>C (p.Cys12Arg)
NM_000132.4(F8):c.350T>G (p.Leu117Arg) rs137852386
NM_000132.4(F8):c.3548_3549del (p.Lys1183fs) rs387906449
NM_000132.4(F8):c.355G>C (p.Ala119Pro)
NM_000132.4(F8):c.3586A>C (p.Thr1196Pro)
NM_000132.4(F8):c.359T>C (p.Val120Ala) rs1569560006
NM_000132.4(F8):c.3619C>A (p.His1207Asn)
NM_000132.4(F8):c.3619_3622del (p.His1207fs)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.364_365del (p.Val122fs) rs387906435
NM_000132.4(F8):c.3674A>G (p.Gln1225Arg)
NM_000132.4(F8):c.3680A>G (p.Asn1227Ser)
NM_000132.4(F8):c.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.3731A>G (p.Lys1244Arg)
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
NM_000132.4(F8):c.3745_3748del (p.Leu1249fs)
NM_000132.4(F8):c.3746del (p.Leu1249fs) rs2124050272
NM_000132.4(F8):c.377A>G (p.Lys126Arg) rs1603436639
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu) rs1800291
NM_000132.4(F8):c.3780del (p.Asp1260fs) rs2124050215
NM_000132.4(F8):c.3781G>A (p.Gly1261Arg)
NM_000132.4(F8):c.3799C>A (p.Leu1267Ile)
NM_000132.4(F8):c.379del (p.Ala127fs) rs1454692506
NM_000132.4(F8):c.37C>T (p.Leu13Phe)
NM_000132.4(F8):c.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.3870dup (p.Gly1291fs)
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.389G>C (p.Gly130Ala)
NM_000132.4(F8):c.38T>C (p.Leu13Pro)
NM_000132.4(F8):c.3907A>G (p.Thr1303Ala)
NM_000132.4(F8):c.3914A>G (p.Gln1305Arg)
NM_000132.4(F8):c.3946A>G (p.Ile1316Val)
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
NM_000132.4(F8):c.3969G>C (p.Gln1323His)
NM_000132.4(F8):c.398A>G (p.Tyr133Cys) rs137852389
NM_000132.4(F8):c.4024G>T (p.Glu1342Ter) rs2073182544
NM_000132.4(F8):c.4029_4030dup (p.Thr1344fs) rs2124049493
NM_000132.4(F8):c.403G>T (p.Asp135Tyr) rs2073597882
NM_000132.4(F8):c.4040A>G (p.Glu1347Gly)
NM_000132.4(F8):c.4042A>T (p.Lys1348Ter) rs1297584118
NM_000132.4(F8):c.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
NM_000132.4(F8):c.409A>G (p.Thr137Ala)
NM_000132.4(F8):c.410C>T (p.Thr137Ile) rs137852391
NM_000132.4(F8):c.4121_4124del (p.Ile1374fs) rs387906452
NM_000132.4(F8):c.412del (p.Ser138fs)
NM_000132.4(F8):c.4148C>G (p.Ala1383Gly)
NM_000132.4(F8):c.4162C>A (p.Pro1388Thr)
NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)
NM_000132.4(F8):c.4211G>A (p.Arg1404Lys)
NM_000132.4(F8):c.4234G>T (p.Val1412Leu)
NM_000132.4(F8):c.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4247C>T (p.Pro1416Leu)
NM_000132.4(F8):c.4254T>A (p.Ile1418=)
NM_000132.4(F8):c.4274G>A (p.Arg1425Lys)
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4300C>G (p.His1434Asp)
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.431A>G (p.Asp144Gly)
NM_000132.4(F8):c.4320T>G (p.Tyr1440Ter)
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
NM_000132.4(F8):c.4361T>C (p.Leu1454Ser)
NM_000132.4(F8):c.4367G>A (p.Gly1456Glu)
NM_000132.4(F8):c.4374A>C (p.Lys1458Asn)
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.437_438del (p.Lys146fs) rs2124141140
NM_000132.4(F8):c.43C>T (p.Arg15Ter) rs387906432
NM_000132.4(F8):c.4406T>C (p.Leu1469Ser)
NM_000132.4(F8):c.4448C>A (p.Thr1483Lys)
NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter) rs1557278411
NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)
NM_000132.4(F8):c.4508A>G (p.Asp1503Gly)
NM_000132.4(F8):c.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
NM_000132.4(F8):c.461C>A (p.Thr154Lys)
NM_000132.4(F8):c.461C>T (p.Thr154Ile) rs2073597378
NM_000132.4(F8):c.4636C>T (p.Gln1546Ter) rs2073177296
NM_000132.4(F8):c.4658A>G (p.Lys1553Arg)
NM_000132.4(F8):c.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
NM_000132.4(F8):c.4748C>T (p.Pro1583Leu) rs1603433736
NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)
NM_000132.4(F8):c.4758G>A (p.Trp1586Ter) rs2124048012
NM_000132.4(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.4(F8):c.476T>A (p.Val159Asp)
NM_000132.4(F8):c.476T>C (p.Val159Ala) rs2124141036
NM_000132.4(F8):c.4820A>T (p.Glu1607Val)
NM_000132.4(F8):c.4825dup (p.Thr1609fs) rs397514036
NM_000132.4(F8):c.4826C>T (p.Thr1609Ile)
NM_000132.4(F8):c.4841del (p.Lys1614fs)
NM_000132.4(F8):c.484G>A (p.Glu162Lys)
NM_000132.4(F8):c.4858del (p.Ser1619_Leu1620insTer) rs387906456
NM_000132.4(F8):c.4870G>T (p.Glu1624Ter) rs1603433733
NM_000132.4(F8):c.4900G>T (p.Glu1634Ter) rs137852438
NM_000132.4(F8):c.4901A>G (p.Glu1634Gly)
NM_000132.4(F8):c.4912A>G (p.Lys1638Glu)
NM_000132.4(F8):c.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.4921A>G (p.Ile1641Val)
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.4990C>G (p.Arg1664Gly)
NM_000132.4(F8):c.4999C>T (p.Arg1667Trp)
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.500C>T (p.Ala167Val)
NM_000132.4(F8):c.5042T>C (p.Ile1681Thr)
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.508C>T (p.Pro170Ser)
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5096A>C (p.Tyr1699Ser)
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.509_510delinsAT (p.Pro170His)
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5110A>C (p.Asn1704His)
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5120C>T (p.Pro1707Leu)
NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)
NM_000132.4(F8):c.5136G>C (p.Lys1712Asn)
NM_000132.4(F8):c.5143C>A (p.Arg1715=) rs137852439
NM_000132.4(F8):c.5143C>G (p.Arg1715Gly) rs137852439
NM_000132.4(F8):c.5143C>T (p.Arg1715Ter) rs137852439
NM_000132.4(F8):c.5146C>A (p.His1716Asn) rs2073172888
NM_000132.4(F8):c.5149T>C (p.Tyr1717His)
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.5156T>C (p.Ile1719Thr)
NM_000132.4(F8):c.5164G>A (p.Val1722Met) rs1603433719
NM_000132.4(F8):c.5167G>A (p.Glu1723Lys) rs137852373
NM_000132.4(F8):c.5179G>A (p.Asp1727Asn)
NM_000132.4(F8):c.517C>T (p.Leu173Phe)
NM_000132.4(F8):c.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
NM_000132.4(F8):c.5186G>T (p.Gly1729Val)
NM_000132.4(F8):c.520A>G (p.Thr174Ala)
NM_000132.4(F8):c.5211A>G (p.Leu1737=)
NM_000132.4(F8):c.5217C>T (p.Asn1739=) rs1603433715
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)
NM_000132.4(F8):c.5219+13_5219+20del
NM_000132.4(F8):c.5219+1G>A rs1280131174
NM_000132.4(F8):c.5219+2T>C rs1603433713
NM_000132.4(F8):c.5219G>T (p.Arg1740Met) rs1444273117
NM_000132.4(F8):c.521C>T (p.Thr174Ile)
NM_000132.4(F8):c.5220-16del
NM_000132.4(F8):c.5220-2A>G rs2073039685
NM_000132.4(F8):c.5267A>T (p.Glu1756Val) rs2124000688
NM_000132.4(F8):c.5290C>T (p.Gln1764Ter)
NM_000132.4(F8):c.5293C>A (p.Pro1765Thr)
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
NM_000132.4(F8):c.5301C>T (p.Tyr1767=)
NM_000132.4(F8):c.5305G>A (p.Gly1769Arg) rs137852440
NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)
NM_000132.4(F8):c.5308G>A (p.Glu1770Lys) rs2124000594
NM_000132.4(F8):c.5312T>C (p.Leu1771Pro)
NM_000132.4(F8):c.5320C>T (p.His1774Tyr)
NM_000132.4(F8):c.5323T>G (p.Leu1775Val) rs28937287
NM_000132.4(F8):c.5325G>C (p.Leu1775Phe) rs137852441
NM_000132.4(F8):c.5335G>A (p.Gly1779Arg) rs1168919288
NM_000132.4(F8):c.5336G>A (p.Gly1779Glu) rs28937289
NM_000132.4(F8):c.5372T>C (p.Met1791Thr) rs137852375
NM_000132.4(F8):c.5374-19del rs782086610
NM_000132.4(F8):c.5374-224_5453delinsT
NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs) rs1342455699
NM_000132.4(F8):c.5398C>G (p.Arg1800Gly) rs137852443
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)
NM_000132.4(F8):c.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.5417C>T (p.Ser1806Phe) rs1569559523
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5422C>G (p.Leu1808Val)
NM_000132.4(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.4(F8):c.5441A>T (p.Asp1814Val) rs2073030462
NM_000132.4(F8):c.5443C>T (p.Gln1815Ter) rs137852446
NM_000132.4(F8):c.5449C>T (p.Gln1817Ter) rs2123997982
NM_000132.4(F8):c.5453dup (p.Ala1819fs)
NM_000132.4(F8):c.5479A>T (p.Lys1827Ter) rs387906457
NM_000132.4(F8):c.5483del (p.Pro1828fs) rs2073030045
NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)
NM_000132.4(F8):c.5493C>G (p.Thr1831=) rs1603432997
NM_000132.4(F8):c.5501dup (p.Tyr1834Ter) rs2123997870
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) rs2073029867
NM_000132.4(F8):c.5517A>G (p.Gln1839=)
NM_000132.4(F8):c.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
NM_000132.4(F8):c.5528C>T (p.Ala1843Val)
NM_000132.4(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.4(F8):c.5533A>C (p.Thr1845Pro) rs28933676
NM_000132.4(F8):c.5545T>A (p.Phe1849Ile)
NM_000132.4(F8):c.554A>C (p.Lys185Thr) rs137852395
NM_000132.4(F8):c.5558C>T (p.Ala1853Val) rs28933677
NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)
NM_000132.4(F8):c.5562G>T (p.Trp1854Cys)
NM_000132.4(F8):c.5576A>T (p.Asp1859Val) rs2123997719
NM_000132.4(F8):c.5579T>C (p.Val1860Ala)
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) rs2123997685
NM_000132.4(F8):c.5586+2T>C
NM_000132.4(F8):c.5586+2T>G
NM_000132.4(F8):c.5586G>A (p.Leu1862=) rs2123997676
NM_000132.4(F8):c.5587-2A>G rs2073027912
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000132.4(F8):c.5587-98G>A rs1603432993
NM_000132.4(F8):c.558C>A (p.Asp186Glu) rs1603436426
NM_000132.4(F8):c.5593G>A (p.Asp1865Asn) rs28933678
NM_000132.4(F8):c.5593G>T (p.Asp1865Tyr) rs28933678
NM_000132.4(F8):c.5594A>T (p.Asp1865Val)
NM_000132.4(F8):c.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5605G>A (p.Gly1869Ser) rs1417520379
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
NM_000132.4(F8):c.562A>C (p.Asn188His)
NM_000132.4(F8):c.5649C>A (p.Asn1883Lys)
NM_000132.4(F8):c.5666A>G (p.Gln1889Arg) rs2123997081
NM_000132.4(F8):c.566C>T (p.Ser189Leu) rs137852367
NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) rs137852448
NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)
NM_000132.4(F8):c.5696T>C (p.Phe1899Ser) rs1486435006
NM_000132.4(F8):c.5703C>A (p.Ile1901=) rs782721473
NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) rs28933681
NM_000132.4(F8):c.5719dup (p.Ser1907fs) rs387906459
NM_000132.4(F8):c.5724del (p.Trp1908fs) rs2073026512
NM_000132.4(F8):c.575T>C (p.Ile192Thr) rs1448187077
NM_000132.4(F8):c.580G>A (p.Ala194Thr)
NM_000132.4(F8):c.580G>C (p.Ala194Pro)
NM_000132.4(F8):c.5813A>G (p.His1938Arg) rs1603432981
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5816-2A>G rs2123996454
NM_000132.4(F8):c.5816C>A (p.Ala1939Glu)
NM_000132.4(F8):c.5819T>C (p.Ile1940Thr)
NM_000132.4(F8):c.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
NM_000132.4(F8):c.5843T>C (p.Leu1948Pro)
NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)
NM_000132.4(F8):c.5851T>C (p.Leu1951=)
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5863C>G (p.Gln1955Glu) rs2123996340
NM_000132.4(F8):c.5875A>T (p.Ile1959Phe) rs1411617809
NM_000132.4(F8):c.5878C>T (p.Arg1960Ter) rs137852363
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) rs28937294
NM_000132.4(F8):c.5881T>C (p.Trp1961Arg)
NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) rs137852449
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.5896A>C (p.Met1966Leu) rs1603432970
NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) rs111033615
NM_000132.4(F8):c.5903G>A (p.Ser1968Asn)
NM_000132.4(F8):c.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
NM_000132.4(F8):c.5924T>C (p.Ile1975Thr)
NM_000132.4(F8):c.5926C>T (p.His1976Tyr)
NM_000132.4(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000132.4(F8):c.5936G>T (p.Gly1979Val) rs137852450
NM_000132.4(F8):c.5938C>T (p.His1980Tyr) rs137852451
NM_000132.4(F8):c.5939A>G (p.His1980Arg) rs1569559516
NM_000132.4(F8):c.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5941G>A (p.Val1981Met)
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5954del (p.Arg1985fs) rs1215569190
NM_000132.4(F8):c.5960_5964del (p.Lys1987fs) rs1569559514
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.5961dup (p.Glu1988fs)
NM_000132.4(F8):c.5977G>T (p.Ala1993Ser)
NM_000132.4(F8):c.5993A>G (p.Tyr1998Cys)
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5995C>G (p.Pro1999Ala)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.5999-1G>A
NM_000132.4(F8):c.5999-270C>G
NM_000132.4(F8):c.5999-2A>C rs2123994187
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.5999G>T (p.Gly2000Val) rs1603432913
NM_000132.4(F8):c.6010A>G (p.Thr2004Ala)
NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
NM_000132.4(F8):c.601G>T (p.Gly201Trp)
NM_000132.4(F8):c.602-10T>G
NM_000132.4(F8):c.602-11T>C
NM_000132.4(F8):c.602-2A>G rs2124134457
NM_000132.4(F8):c.6020del (p.Met2007fs) rs2123994155
NM_000132.4(F8):c.6028T>C (p.Ser2010Pro)
NM_000132.4(F8):c.602G>A (p.Gly201Glu)
NM_000132.4(F8):c.6043T>C (p.Trp2015Arg) rs2073013277
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6049del (p.Val2017fs) rs387906461
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.6057C>A (p.Cys2019Ter)
NM_000132.4(F8):c.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.6066C>T (p.Gly2022=)
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6077A>G (p.His2026Arg)
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
NM_000132.4(F8):c.6084del (p.Gly2028_Met2029insTer)
NM_000132.4(F8):c.6103G>A (p.Val2035Met) rs1057521074
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) rs137852454
NM_000132.4(F8):c.6115+2T>C
NM_000132.4(F8):c.6118T>G (p.Cys2040Gly) rs2123993603
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6122A>T (p.Gln2041Leu)
NM_000132.4(F8):c.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6164A>C (p.Gln2055Pro)
NM_000132.4(F8):c.6188-2A>G
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6245G>A (p.Ser2082Asn) rs1569559494
NM_000132.4(F8):c.625C>T (p.Gln209Ter)
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
NM_000132.4(F8):c.6265T>G (p.Trp2089Gly)
NM_000132.4(F8):c.6273G>A (p.Lys2091=) rs2148584915
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6274-2A>G
NM_000132.4(F8):c.6274-304GT[13] rs57253105
NM_000132.4(F8):c.6274-304GT[14] rs57253105
NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6278A>T (p.Asp2093Val) rs137852457
NM_000132.4(F8):c.6286G>A (p.Ala2096Thr)
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6302A>G (p.His2101Arg)
NM_000132.4(F8):c.6305G>A (p.Gly2102Asp) rs2148583736
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6320G>A (p.Gly2107Asp) rs1190705187
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
NM_000132.4(F8):c.6326G>C (p.Arg2109Pro)
NM_000132.4(F8):c.6346T>C (p.Tyr2116His) rs781870586
NM_000132.4(F8):c.6355C>T (p.Gln2119Ter) rs2072977865
NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) rs137852458
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
NM_000132.4(F8):c.6369G>A (p.Met2123Ile)
NM_000132.4(F8):c.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.6383G>A (p.Gly2128Glu)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6403C>T (p.Arg2135Ter) rs137852356
NM_000132.4(F8):c.6404G>C (p.Arg2135Pro) rs137852366
NM_000132.4(F8):c.640T>G (p.Phe214Val) rs2073563995
NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) rs387906462
NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) rs137852460
NM_000132.4(F8):c.641T>A (p.Phe214Tyr) rs2073563946
NM_000132.4(F8):c.6429+16424_6430-16424inv
NM_000132.4(F8):c.6429+1G>A
NM_000132.4(F8):c.6429+2T>A
NM_000132.4(F8):c.6429+5G>A
NM_000132.4(F8):c.6430-2A>G
NM_000132.4(F8):c.6434T>C (p.Phe2145Ser)
NM_000132.4(F8):c.6434T>G (p.Phe2145Cys) rs1603431562
NM_000132.4(F8):c.6437T>C (p.Phe2146Ser) rs1603431561
NM_000132.4(F8):c.643A>G (p.Ile215Val)
NM_000132.4(F8):c.643A>T (p.Ile215Leu)
NM_000132.4(F8):c.6440G>T (p.Gly2147Val)
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6449A>T (p.Asp2150Val)
NM_000132.4(F8):c.6452C>T (p.Ser2151Leu)
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
NM_000132.4(F8):c.6483T>A (p.Pro2161=)
NM_000132.4(F8):c.6485C>T (p.Pro2162Leu)
NM_000132.4(F8):c.6492T>G (p.Ile2164Met)
NM_000132.4(F8):c.6496C>T (p.Arg2166Ter) rs137852357
NM_000132.4(F8):c.6505C>T (p.Arg2169Cys)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.650T>C (p.Leu217Pro) rs2124134359
NM_000132.4(F8):c.650T>G (p.Leu217Arg) rs2124134359
NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) rs137852462
NM_000132.4(F8):c.6518C>G (p.Thr2173Ser)
NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) rs137852463
NM_000132.4(F8):c.6521A>G (p.His2174Arg)
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.6550G>C (p.Glu2184Gln) rs2148568062
NM_000132.4(F8):c.6551A>G (p.Glu2184Gly)
NM_000132.4(F8):c.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6560G>A (p.Gly2187Asp)
NM_000132.4(F8):c.6574+5G>A
NM_000132.4(F8):c.6576T>A (p.Ser2192Arg)
NM_000132.4(F8):c.6581G>T (p.Ser2194Ile)
NM_000132.4(F8):c.6592G>A (p.Gly2198Arg) rs1603431512
NM_000132.4(F8):c.6593G>A (p.Gly2198Glu) rs2148567338
NM_000132.4(F8):c.65G>A (p.Arg22Lys) rs2073765087
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) rs2072694107
NM_000132.4(F8):c.662T>C (p.Phe221Ser)
NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
NM_000132.4(F8):c.6653T>A (p.Met2218Lys)
NM_000132.4(F8):c.665A>C (p.Asp222Ala) rs137852396
NM_000132.4(F8):c.665A>T (p.Asp222Val) rs137852396
NM_000132.4(F8):c.6663C>A (p.Thr2221=)
NM_000132.4(F8):c.6670_6672del (p.Pro2224del) rs1229477261
NM_000132.4(F8):c.6678del (p.Ala2227fs) rs1273763950
NM_000132.4(F8):c.6679G>A (p.Ala2227Thr) rs1342196860
NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) rs137852355
NM_000132.4(F8):c.6682C>T (p.Arg2228Ter) rs137852355
NM_000132.4(F8):c.6683G>A (p.Arg2228Gln) rs137852358
NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) rs137852358
NM_000132.4(F8):c.6685C>T (p.Leu2229Phe) rs1603431508
NM_000132.4(F8):c.6686T>C (p.Leu2229Pro) rs1603431506
NM_000132.4(F8):c.6697G>T (p.Gly2233Trp) rs2072692745
NM_000132.4(F8):c.6699del (p.Arg2234fs) rs387906464
NM_000132.4(F8):c.670+1G>A
NM_000132.4(F8):c.670+5G>A
NM_000132.4(F8):c.6709G>A (p.Ala2237Thr)
NM_000132.4(F8):c.6709G>T (p.Ala2237Ser) rs2148567205
NM_000132.4(F8):c.670G>T (p.Gly224Trp) rs137852397
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.671-2A>G rs2124131475
NM_000132.4(F8):c.671-50_787+50del rs1603436123
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6713G>A (p.Trp2238Ter) rs1377166595
NM_000132.4(F8):c.6719C>T (p.Pro2240Leu) rs1174359623
NM_000132.4(F8):c.6720T>G (p.Pro2240=)
NM_000132.4(F8):c.6724-2A>G
NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)
NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) rs137852469
NM_000132.4(F8):c.6751G>A (p.Val2251Met) rs1603431480
NM_000132.4(F8):c.6754G>C (p.Asp2252His) rs2072683196
NM_000132.4(F8):c.6776T>A (p.Val2259Asp) rs1603431479
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) rs387906465
NM_000132.4(F8):c.6812T>C (p.Leu2271Pro) rs2072682503
NM_000132.4(F8):c.6818G>A (p.Ser2273Asn)
NM_000132.4(F8):c.6821T>C (p.Met2274Thr)
NM_000132.4(F8):c.6823T>C (p.Tyr2275His)
NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)
NM_000132.4(F8):c.6834G>T (p.Glu2278Asp) rs2072682134
NM_000132.4(F8):c.683A>C (p.His228Pro)
NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) rs137852471
NM_000132.4(F8):c.6868T>C (p.Trp2290Arg) rs2072681848
NM_000132.4(F8):c.686C>A (p.Ser229Ter)
NM_000132.4(F8):c.6876_6877del (p.Phe2294fs) rs1356674990
NM_000132.4(F8):c.688_689del (p.Glu230fs) rs387906436
NM_000132.4(F8):c.6900+1G>C
NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) rs387906466
NM_000132.4(F8):c.6920A>C (p.Asp2307Ala) rs1603430929
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.6944C>T (p.Ser2315Phe)
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000132.4(F8):c.6956dup (p.Leu2320fs) rs1475873048
NM_000132.4(F8):c.6959T>G (p.Leu2320Ter) rs2148555597
NM_000132.4(F8):c.6967C>G (p.Arg2323Gly) rs137852473
NM_000132.4(F8):c.6968G>A (p.Arg2323His) rs137852474
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) rs137852474
NM_000132.4(F8):c.6975del (p.Arg2326fs) rs2148555575
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.6977G>T (p.Arg2326Leu) rs137852360
NM_000132.4(F8):c.6995G>A (p.Trp2332Ter) rs2072484506
NM_000132.4(F8):c.7001A>C (p.His2334Pro)
NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.701C>G (p.Ser234Cys)
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
NM_000132.4(F8):c.7031G>A (p.Gly2344Asp) rs1557271042
NM_000132.4(F8):c.7033T>C (p.Cys2345Arg)
NM_000132.4(F8):c.7036G>A (p.Glu2346Lys)
NM_000132.4(F8):c.728C>G (p.Ser243Cys)
NM_000132.4(F8):c.73T>C (p.Tyr25His)
NM_000132.4(F8):c.745A>T (p.Lys249Ter)
NM_000132.4(F8):c.74A>G (p.Tyr25Cys) rs2124174443
NM_000132.4(F8):c.755C>T (p.Thr252Ile) rs1464962436
NM_000132.4(F8):c.755_756del (p.Thr252fs)
NM_000132.4(F8):c.760A>G (p.Asn254Asp) rs2124131338
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.77T>G (p.Leu26Arg) rs137852377
NM_000132.4(F8):c.783del (p.Pro262fs)
NM_000132.4(F8):c.784C>G (p.Pro262Ala)
NM_000132.4(F8):c.787+1967C>T
NM_000132.4(F8):c.787+3A>G rs2073548872
NM_000132.4(F8):c.787+3A>T
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.787G>A (p.Gly263Ser)
NM_000132.4(F8):c.788-14T>G rs1603435417
NM_000132.4(F8):c.788-1G>C rs2073445259
NM_000132.4(F8):c.793A>G (p.Ile265Val) rs2073445187
NM_000132.4(F8):c.797G>A (p.Gly266Glu) rs137852398
NM_000132.4(F8):c.818A>G (p.Tyr273Cys)
NM_000132.4(F8):c.822G>A (p.Trp274Ter) rs34371500
NM_000132.4(F8):c.832G>A (p.Gly278Arg) rs137852399
NM_000132.4(F8):c.836T>G (p.Met279Arg)
NM_000132.4(F8):c.839G>A (p.Gly280Asp)
NM_000132.4(F8):c.83_87del (p.Ala28fs) rs1603437863
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
NM_000132.4(F8):c.849del (p.Glu284fs) rs387906437
NM_000132.4(F8):c.853G>A (p.Val285Met) rs2073444412
NM_000132.4(F8):c.854T>G (p.Val285Gly) rs137852400
NM_000132.4(F8):c.862A>G (p.Ile288Val)
NM_000132.4(F8):c.871G>A (p.Glu291Lys)
NM_000132.4(F8):c.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.877C>G (p.His293Asp) rs1569559881
NM_000132.4(F8):c.881C>G (p.Thr294Arg)
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
NM_000132.4(F8):c.88G>A (p.Glu30Lys)
NM_000132.4(F8):c.896A>T (p.Asn299Ile) rs137852402
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.89A>G (p.Glu30Gly) rs137852378
NM_000132.4(F8):c.89A>T (p.Glu30Val) rs137852378
NM_000132.4(F8):c.901C>T (p.Arg301Cys) rs1401805753
NM_000132.4(F8):c.902G>A (p.Arg301His) rs137852403
NM_000132.4(F8):c.902G>T (p.Arg301Leu) rs137852403
NM_000132.4(F8):c.907del (p.Ala303fs) rs387906438
NM_000132.4(F8):c.923C>G (p.Ser308Trp)
NM_000132.4(F8):c.923C>T (p.Ser308Leu) rs137852404
NM_000132.4(F8):c.926C>T (p.Pro309Leu) rs1603435401
NM_000132.4(F8):c.935T>C (p.Phe312Ser) rs137852405
NM_000132.4(F8):c.940A>C (p.Thr314Pro) rs137852406
NM_000132.4(F8):c.941C>A (p.Thr314Asn)
NM_000132.4(F8):c.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
NM_000132.4(F8):c.954_955del (p.Leu319fs)
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.979C>G (p.Leu327Val) rs1603435395
NM_000132.4(F8):c.980T>C (p.Leu327Pro) rs137852407
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000132.4(F8):c.985T>C (p.Cys329Arg) rs387906430
NM_000132.4(F8):c.986G>A (p.Cys329Tyr) rs137852409
NM_000132.4(F8):c.992T>C (p.Ile331Thr) rs2073442480
NM_000132.4:c.3065_3066insL13054_3065dup
NM_000132.4:c.6430_6723del
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.