ClinVar Miner

List of variants in gene F8 studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 695
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.*1672G>A rs1050705 0.55703
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.389-9C>T rs35621875 0.00356
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.*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.*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.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.3885C>G (p.Asn1295Lys) rs201393905 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.3980C>T (p.Thr1327Met) rs200520711 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.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.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.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.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.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.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.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.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.*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.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.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.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.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.(?_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.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.97660_97662delinsAluYb8
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.*862A>G rs1057515824
NM_000132.4(F8):c.*908T>G rs2072478087
NM_000132.4(F8):c.*992A>G rs782499043
NM_000132.4(F8):c.1010-9T>A rs1603435287
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.1120del (p.Met374fs)
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.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.1213A>T (p.Ile405Phe)
NM_000132.4(F8):c.1214T>G (p.Ile405Ser) rs28933670
NM_000132.4(F8):c.1226A>G (p.Glu409Gly) rs28933671
NM_000132.4(F8):c.1244C>A (p.Ala415Asp)
NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs) rs2124105898
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1271+1G>A rs1603435260
NM_000132.4(F8):c.1293G>T (p.Leu431Phe) rs28933672
NM_000132.4(F8):c.1293del (p.Asn432fs) rs387906442
NM_000132.4(F8):c.1331A>G (p.Lys444Arg) rs28937272
NM_000132.4(F8):c.1332del (p.Val445fs) rs1375296497
NM_000132.4(F8):c.1336C>T (p.Arg446Ter) rs137852372
NM_000132.4(F8):c.1348T>A (p.Tyr450Asn) rs111033616
NM_000132.4(F8):c.1364T>G (p.Phe455Cys) rs1603435217
NM_000132.4(F8):c.1372C>T (p.Arg458Cys)
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
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.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.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.1467_1472dup (p.Arg490_Pro491dup) rs2073393487
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
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.1538-18G>A rs1482306571
NM_000132.4(F8):c.1538-1G>T rs1414679955
NM_000132.4(F8):c.1571C>T (p.Pro524Leu)
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.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.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.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.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.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.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
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.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.1988C>T (p.Ala663Val) rs137852433
NM_000132.4(F8):c.199_200del (p.Lys67fs) rs387906433
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.205_206del (p.Leu69fs) rs1317834655
NM_000132.4(F8):c.2087C>T (p.Thr696Ile)
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.2113+461_2113+473del rs781928603
NM_000132.4(F8):c.2114-6760_2257del
NM_000132.4(F8):c.2118_2119dup (p.Trp707fs) rs2124054281
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
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.219C>G (p.Phe73Leu) rs1603436770
NM_000132.4(F8):c.225T>A (p.Asp75Glu)
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.2383A>T (p.Arg795Ter) rs2228152
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.2506dup (p.Ser836fs) rs2124053251
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
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.266G>A (p.Gly89Asp) rs137852380
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.2717C>G (p.Ser906Ter)
NM_000132.4(F8):c.2734_2735del (p.Asn912fs) rs1557278778
NM_000132.4(F8):c.275G>T (p.Gly92Val) rs137852381
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.286C>T (p.Gln96Ter) rs2124146053
NM_000132.4(F8):c.2902G>T (p.Glu968Ter) rs782176982
NM_000132.4(F8):c.2945dup (p.Asn982fs) rs387906447
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.2T>A (p.Met1Lys)
NM_000132.4(F8):c.302A>G (p.Asp101Gly) rs1312347909
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.311T>A (p.Val104Asp) rs137852383
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.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.3266C>A (p.Ser1089Ter) rs2073189135
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.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.3465dup (p.Ser1156fs)
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.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.3692del (p.Pro1231fs) rs387906451
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
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.382T>C (p.Ser128Pro) rs1603436638
NM_000132.4(F8):c.3861_3867del (p.Phe1287fs) rs1603433779
NM_000132.4(F8):c.388+1G>A rs1377354928
NM_000132.4(F8):c.388G>C (p.Gly130Arg) rs137852387
NM_000132.4(F8):c.3964del (p.Gln1322fs) rs2073183197
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.404A>G (p.Asp135Gly) rs137852390
NM_000132.4(F8):c.4072C>T (p.Gln1358Ter)
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.4242dup (p.Phe1415fs) rs1360639935
NM_000132.4(F8):c.4296_4300del (p.His1434fs) rs387906453
NM_000132.4(F8):c.4313dup (p.Ser1439fs) rs1603433756
NM_000132.4(F8):c.4328_4331del (p.Lys1443fs) rs387906454
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.460A>C (p.Thr154Pro) rs1603436436
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
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.4662_4663del (p.Trp1554_Asn1555delinsTer) rs2124048199
NM_000132.4(F8):c.4679C>G (p.Pro1560Arg) rs782791962
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.4825dup (p.Thr1609fs) rs397514036
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.491G>T (p.Gly164Val) rs137852392
NM_000132.4(F8):c.4936del (p.Ala1646fs) rs1603433729
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.505G>A (p.Asp169Asn) rs2073596825
NM_000132.4(F8):c.5093T>C (p.Ile1698Thr) rs2073173387
NM_000132.4(F8):c.5096A>G (p.Tyr1699Cys)
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
NM_000132.4(F8):c.5113C>T (p.Gln1705Ter) rs137852361
NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)
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.5150_5151del (p.Tyr1717fs) rs2124046974
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.5183A>G (p.Tyr1728Cys) rs137852362
NM_000132.4(F8):c.5186G>A (p.Gly1729Glu) rs1557278259
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+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.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.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5301C>A (p.Tyr1767Ter) rs782763245
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.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.5374-224_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.5408C>A (p.Ser1803Tyr) rs137852444
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
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.5526G>A (p.Met1842Ile) rs28933674
NM_000132.4(F8):c.5527G>A (p.Ala1843Thr) rs1603432996
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.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.5576A>T (p.Asp1859Val) rs2123997719
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.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.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.55A>C (p.Ser19Arg) rs2124174458
NM_000132.4(F8):c.5600A>G (p.His1867Arg) rs28933679
NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) rs28933680
NM_000132.4(F8):c.5622dup (p.Leu1875fs) rs387906458
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.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.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.5821A>G (p.Asn1941Asp) rs137852369
NM_000132.4(F8):c.5822A>G (p.Asn1941Ser) rs28933682
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.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.5914_5915del (p.Ile1972fs) rs1216878586
NM_000132.4(F8):c.5918A>T (p.His1973Leu) rs1273080258
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.5939_5940del (p.His1980fs)
NM_000132.4(F8):c.5953C>T (p.Arg1985Ter) rs137852452
NM_000132.4(F8):c.5961del (p.Glu1988fs) rs387906460
NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe) rs2073022685
NM_000132.4(F8):c.5994del (p.Pro1999fs)
NM_000132.4(F8):c.5998+1G>T
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.6016G>T (p.Glu2006Ter) rs267606791
NM_000132.4(F8):c.601G>A (p.Gly201Arg) rs1229954426
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.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.605G>A (p.Ser202Asn) rs1603436218
NM_000132.4(F8):c.606T>G (p.Ser202Arg) rs1603436217
NM_000132.4(F8):c.6082G>A (p.Gly2028Arg) rs1603432908
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.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) rs137852455
NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) rs137852456
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.6278A>G (p.Asp2093Gly) rs137852457
NM_000132.4(F8):c.6296T>A (p.Ile2099Asn) rs1603432784
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6319G>A (p.Gly2107Ser) rs1267586059
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)
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.6375T>A (p.Ser2125Arg)
NM_000132.4(F8):c.639_651dup (p.Phe218fs) rs2124134352
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.6429+16424_6430-16424inv
NM_000132.4(F8):c.6429+2T>A
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.6443A>G (p.Asn2148Ser) rs1321311878
NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)
NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) rs387906463
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>T (p.Thr2173Ile) rs137852463
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.6554T>C (p.Leu2185Ser) rs137852365
NM_000132.4(F8):c.6574+5G>A
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.6631G>C (p.Ala2211Pro) rs137852468
NM_000132.4(F8):c.6638C>T (p.Ser2213Phe) rs1603431511
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.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.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+5G>A
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.6744G>T (p.Trp2248Cys) rs137852469
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.6821T>C (p.Met2274Thr)
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.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.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.7015A>T (p.Arg2339Trp)
NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) rs2072484280
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.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+3A>G rs2073548872
NM_000132.4(F8):c.787+5G>C rs1378662017
NM_000132.4(F8):c.787G>A (p.Gly263Ser)
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.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.83_87del (p.Ala28fs) rs1603437863
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.872A>G (p.Glu291Gly) rs137852359
NM_000132.4(F8):c.881C>T (p.Thr294Ile) rs137852401
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>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.943del (p.Ala315fs) rs387906439
NM_000132.4(F8):c.944C>G (p.Ala315Gly) rs2124109874
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

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