ClinVar Miner

List of variants in gene F5 reported as likely benign for blood coagulation disease

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 584
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.5419+12A>G rs6009 0.92435
NM_000130.5(F5):c.*1115C>T rs2040444 0.48344
NM_000130.5(F5):c.552G>T (p.Ser184=) rs6022 0.33707
NM_000130.5(F5):c.3804T>C (p.Ser1268=) rs1800594 0.33303
NM_000130.5(F5):c.405G>A (p.Ala135=) rs6029 0.30714
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.*1601C>T rs2187952 0.25334
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.2208C>T (p.Ile736=) rs6016 0.24147
NM_000130.5(F5):c.2594A>G (p.His865Arg) rs4525 0.24141
NM_000130.5(F5):c.2301A>G (p.Ser767=) rs6021 0.24140
NM_000130.5(F5):c.2773A>G (p.Lys925Glu) rs6032 0.24133
NM_000130.5(F5):c.2235T>C (p.Asn745=) rs6017 0.23336
NM_000130.5(F5):c.237A>G (p.Gln79=) rs6028 0.22486
NM_000130.5(F5):c.3948C>T (p.Leu1316=) rs9287090 0.21875
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000130.5(F5):c.319G>C (p.Asp107His) rs6019 0.14054
NM_000130.5(F5):c.1538G>A (p.Arg513Lys) rs6020 0.11893
NM_000130.5(F5):c.1242A>G (p.Lys414=) rs6035 0.08632
NM_000130.5(F5):c.1380C>T (p.Asn460=) rs6015 0.06377
NM_000130.5(F5):c.1716G>A (p.Glu572=) rs6036 0.06356
NM_000130.5(F5):c.1238T>C (p.Met413Thr) rs6033 0.06350
NM_000130.5(F5):c.1926C>A (p.Thr642=) rs6037 0.06314
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.*1820A>C rs72708013 0.05470
NM_000130.5(F5):c.*1246C>T rs9332676 0.05464
NM_000130.5(F5):c.*873C>T rs9332673 0.05461
NM_000130.5(F5):c.2450A>C (p.Asn817Thr) rs6018 0.05391
NM_000130.5(F5):c.2289A>G (p.Glu763=) rs6024 0.05387
NM_000130.5(F5):c.6665A>G (p.Asp2222Gly) rs6027 0.05290
NM_000130.5(F5):c.3980A>G (p.His1327Arg) rs1800595 0.05074
NM_000130.5(F5):c.5022A>G (p.Gly1674=) rs6010 0.04908
NM_000130.5(F5):c.4210C>T (p.Pro1404Ser) rs9332608 0.04654
NM_000130.5(F5):c.4189C>T (p.Leu1397Phe) rs13306334 0.03498
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701 0.03115
NM_000130.5(F5):c.2425C>T (p.Pro809Ser) rs6031 0.02430
NM_000130.5(F5):c.3438C>G (p.His1146Gln) rs6005 0.02373
NM_000130.5(F5):c.*1118G>A rs9332675 0.02056
NM_000130.5(F5):c.43G>A (p.Gly15Ser) rs9332485 0.01876
NM_000130.5(F5):c.2925C>T (p.Pro975=) rs41272457 0.01542
NM_000130.5(F5):c.2743A>T (p.Thr915Ser) rs9332695 0.01344
NM_000130.5(F5):c.*476C>T rs72708017 0.01259
NM_000130.5(F5):c.816C>T (p.Asn272=) rs9332578 0.01203
NM_000130.5(F5):c.5460G>A (p.Met1820Ile) rs6026 0.00789
NM_000130.5(F5):c.*376A>T rs76510731 0.00746
NM_000130.5(F5):c.158+13T>C rs116416322 0.00733
NM_000130.5(F5):c.*1488T>C rs75764442 0.00676
NM_000130.5(F5):c.*1290G>A rs9332677 0.00480
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_000130.5(F5):c.6309G>A (p.Leu2103=) rs35369423 0.00361
NM_000130.5(F5):c.2906A>G (p.Asn969Ser) rs9332604 0.00302
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000130.5(F5):c.*2037G>A rs550454517 0.00246
NM_000130.5(F5):c.3776C>A (p.Ser1259Tyr) rs150104888 0.00246
NM_000130.5(F5):c.*581C>A rs180742904 0.00227
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000130.5(F5):c.6193+7T>A rs185294741 0.00156
NM_000130.5(F5):c.106G>A (p.Val36Met) rs147487854 0.00150
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.2939G>T (p.Arg980Leu) rs9332605 0.00143
NM_000130.5(F5):c.3851C>T (p.Thr1284Ile) rs139573207 0.00142
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000130.5(F5):c.3504A>C (p.Thr1168=) rs13306332 0.00077
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000130.5(F5):c.1086C>T (p.Asp362=) rs147952496 0.00058
NM_000130.5(F5):c.2752C>T (p.Pro918Ser) rs149389480 0.00054
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000130.5(F5):c.5558G>T (p.Gly1853Val) rs182566496 0.00039
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_000130.5(F5):c.1181T>C (p.Val394Ala) rs142875000 0.00030
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000130.5(F5):c.2806C>G (p.Gln936Glu) rs138086769 0.00027
NM_000130.5(F5):c.2835G>A (p.Gly945=) rs370927080 0.00026
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000130.5(F5):c.6402G>A (p.Thr2134=) rs144486119 0.00017
NM_000130.5(F5):c.*838T>C rs376103455 0.00016
NM_000130.5(F5):c.4346C>T (p.Pro1449Leu) rs113768654 0.00016
NM_000130.5(F5):c.4641T>C (p.Asp1547=) rs138504020 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000130.5(F5):c.6600T>C (p.Phe2200=) rs142201768 0.00015
NM_000130.5(F5):c.3039G>A (p.Gln1013=) rs769936831 0.00014
NM_000130.5(F5):c.3221A>G (p.Asn1074Ser) rs200269019 0.00014
NM_000130.5(F5):c.3243C>T (p.Asp1081=) rs140281633 0.00014
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000130.5(F5):c.4145C>A (p.Thr1382Lys) rs775712769 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000130.5(F5):c.4056C>T (p.Leu1352=) rs549332286 0.00011
NM_000130.5(F5):c.1374A>G (p.Glu458=) rs150708584 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00010
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000130.5(F5):c.3257T>C (p.Leu1086Ser) rs116407347 0.00008
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00006
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000130.5(F5):c.5262A>T (p.Gly1754=) rs759827034 0.00005
NM_000130.5(F5):c.2383C>G (p.Gln795Glu) rs374379051 0.00004
NM_000130.5(F5):c.3446C>T (p.Ser1149Phe) rs559098136 0.00004
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000130.5(F5):c.3702C>T (p.Asp1234=) rs368295218 0.00002
NM_000130.5(F5):c.4632G>T (p.Val1544=) rs780992775 0.00002
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.1569T>A (p.Leu523=) rs1398320157 0.00001
NM_000130.5(F5):c.1659G>A (p.Glu553=) rs370739570 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.3939C>T (p.Ser1313=) rs1445744008 0.00001
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001
NM_000130.5(F5):c.4158A>C (p.Pro1386=) rs772368983 0.00001
NM_000130.5(F5):c.417C>T (p.Asp139=) rs749722664 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.5976G>A (p.Glu1992=) rs915397925 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000130.5(F5):c.6606T>A (p.Arg2202=) rs368496361 0.00001
NM_000130.5(F5):c.*1436T>A rs9332678
NM_000130.5(F5):c.*2328G>C rs6427196
NM_000130.5(F5):c.1002G>A (p.Arg334=)
NM_000130.5(F5):c.1014A>G (p.Lys338=)
NM_000130.5(F5):c.1029G>A (p.Gln343=)
NM_000130.5(F5):c.1059C>T (p.Phe353=)
NM_000130.5(F5):c.1089T>C (p.Tyr363=)
NM_000130.5(F5):c.108G>A (p.Val36=)
NM_000130.5(F5):c.1107G>A (p.Ala369=)
NM_000130.5(F5):c.1118+12G>C
NM_000130.5(F5):c.1118+13G>A
NM_000130.5(F5):c.1118+18A>G
NM_000130.5(F5):c.1118+8G>T
NM_000130.5(F5):c.1119-11T>C
NM_000130.5(F5):c.1119-12C>T
NM_000130.5(F5):c.1119-9C>A
NM_000130.5(F5):c.1119-9C>T
NM_000130.5(F5):c.1119-9_1119-8insT
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000130.5(F5):c.112G>T (p.Ala38Ser)
NM_000130.5(F5):c.1137T>C (p.His379=)
NM_000130.5(F5):c.1197C>T (p.Tyr399=)
NM_000130.5(F5):c.120C>A (p.Gly40=)
NM_000130.5(F5):c.1224A>G (p.Thr408=)
NM_000130.5(F5):c.1296+10A>C
NM_000130.5(F5):c.1296+12A>C
NM_000130.5(F5):c.1296+13A>G
NM_000130.5(F5):c.1297-20A>C
NM_000130.5(F5):c.1297-4G>T
NM_000130.5(F5):c.1302G>A (p.Val434=)
NM_000130.5(F5):c.1305C>T (p.Phe435=)
NM_000130.5(F5):c.1317C>G (p.Ala439=)
NM_000130.5(F5):c.1359G>A (p.Ser453=)
NM_000130.5(F5):c.1365T>C (p.Tyr455=)
NM_000130.5(F5):c.136C>A (p.Arg46=)
NM_000130.5(F5):c.136C>G (p.Arg46Gly)
NM_000130.5(F5):c.1396+18C>G
NM_000130.5(F5):c.1396+18del
NM_000130.5(F5):c.1397-20T>C
NM_000130.5(F5):c.1410C>T (p.Thr470=)
NM_000130.5(F5):c.141T>C (p.Pro47=)
NM_000130.5(F5):c.1449T>C (p.Tyr483=)
NM_000130.5(F5):c.1464A>G (p.Leu488=)
NM_000130.5(F5):c.1512A>G (p.Pro504=)
NM_000130.5(F5):c.1521T>C (p.Ser507=)
NM_000130.5(F5):c.1524C>T (p.Asp508=)
NM_000130.5(F5):c.1538_1539delinsAG (p.Arg513Lys)
NM_000130.5(F5):c.1563A>G (p.Gly521=)
NM_000130.5(F5):c.156A>G (p.Ser52=)
NM_000130.5(F5):c.1575C>T (p.Ile525=)
NM_000130.5(F5):c.158+16A>C
NM_000130.5(F5):c.158+19C>T
NM_000130.5(F5):c.158+8A>C rs1571608314
NM_000130.5(F5):c.159-15G>A
NM_000130.5(F5):c.159-8A>T
NM_000130.5(F5):c.1611+10C>T
NM_000130.5(F5):c.1611+13T>A
NM_000130.5(F5):c.1611+15A>G
NM_000130.5(F5):c.1611+17G>A
NM_000130.5(F5):c.1612-10T>C
NM_000130.5(F5):c.1612-15T>C
NM_000130.5(F5):c.1612-16C>A
NM_000130.5(F5):c.1626C>T (p.Ile542=)
NM_000130.5(F5):c.1662C>T (p.Asn554=)
NM_000130.5(F5):c.1665A>G (p.Lys555=)
NM_000130.5(F5):c.1686C>T (p.Asn562=)
NM_000130.5(F5):c.1695G>A (p.Lys565=)
NM_000130.5(F5):c.171T>C (p.Ser57=)
NM_000130.5(F5):c.1737G>A (p.Lys579=)
NM_000130.5(F5):c.1763-10A>G
NM_000130.5(F5):c.1763-15A>T
NM_000130.5(F5):c.1763-16G>C
NM_000130.5(F5):c.1763-9C>T
NM_000130.5(F5):c.1770T>C (p.Asn590=)
NM_000130.5(F5):c.1773C>T (p.Gly591=)
NM_000130.5(F5):c.1776T>C (p.Tyr592=)
NM_000130.5(F5):c.1788C>T (p.Ser596=)
NM_000130.5(F5):c.1797T>C (p.Thr599=)
NM_000130.5(F5):c.1833C>T (p.His611=)
NM_000130.5(F5):c.1842T>C (p.Ser614=)
NM_000130.5(F5):c.1854G>A (p.Gln618=)
NM_000130.5(F5):c.1869C>T (p.Thr623=)
NM_000130.5(F5):c.1911T>C (p.His637=)
NM_000130.5(F5):c.1920C>T (p.Thr640=)
NM_000130.5(F5):c.1944A>G (p.Gly648=)
NM_000130.5(F5):c.1956G>A (p.Thr652=)
NM_000130.5(F5):c.1956G>C (p.Thr652=)
NM_000130.5(F5):c.1971T>C (p.Asn657=)
NM_000130.5(F5):c.1975+10A>G
NM_000130.5(F5):c.1975+14T>C
NM_000130.5(F5):c.1975+19A>G
NM_000130.5(F5):c.1975+20C>T
NM_000130.5(F5):c.1976-15G>A
NM_000130.5(F5):c.2025G>A (p.Leu675=)
NM_000130.5(F5):c.2029C>T (p.Leu677=)
NM_000130.5(F5):c.2067T>C (p.Asp689=)
NM_000130.5(F5):c.2076A>G (p.Ser692=)
NM_000130.5(F5):c.2079T>C (p.Tyr693=)
NM_000130.5(F5):c.2119C>A (p.Arg707=)
NM_000130.5(F5):c.2136T>A (p.Arg712=)
NM_000130.5(F5):c.2136T>C (p.Arg712=)
NM_000130.5(F5):c.2157G>A (p.Glu719=)
NM_000130.5(F5):c.21C>T (p.Arg7=)
NM_000130.5(F5):c.2200T>C (p.Leu734=)
NM_000130.5(F5):c.2218C>A (p.Arg740=)
NM_000130.5(F5):c.2226A>G (p.Ser742=)
NM_000130.5(F5):c.2248_2250del (p.Glu750del)
NM_000130.5(F5):c.2286T>C (p.Thr762=)
NM_000130.5(F5):c.2292C>T (p.Phe764=)
NM_000130.5(F5):c.2313A>T (p.Ile771=)
NM_000130.5(F5):c.2364C>G (p.Val788=)
NM_000130.5(F5):c.2364C>T (p.Val788=)
NM_000130.5(F5):c.2391C>T (p.Ala797=)
NM_000130.5(F5):c.2397T>A (p.Ser799=)
NM_000130.5(F5):c.240T>C (p.Ser80=)
NM_000130.5(F5):c.2427A>G (p.Pro809=)
NM_000130.5(F5):c.243C>A (p.Thr81=)
NM_000130.5(F5):c.2490A>G (p.Pro830=)
NM_000130.5(F5):c.250+10A>C
NM_000130.5(F5):c.250+13T>G
NM_000130.5(F5):c.250+18T>C
NM_000130.5(F5):c.251-17A>C
NM_000130.5(F5):c.2511G>A (p.Glu837=)
NM_000130.5(F5):c.2532C>T (p.Val844=)
NM_000130.5(F5):c.2538G>A (p.Gly846=)
NM_000130.5(F5):c.2631G>A (p.Lys877=)
NM_000130.5(F5):c.264T>C (p.Pro88=)
NM_000130.5(F5):c.2658A>G (p.Leu886=)
NM_000130.5(F5):c.2691C>T (p.Asp897=)
NM_000130.5(F5):c.2706C>T (p.Ser902=)
NM_000130.5(F5):c.2715G>A (p.Arg905=)
NM_000130.5(F5):c.2745T>C (p.Thr915=)
NM_000130.5(F5):c.2754T>A (p.Pro918=)
NM_000130.5(F5):c.2793G>A (p.Leu931=)
NM_000130.5(F5):c.2799C>T (p.Leu933=)
NM_000130.5(F5):c.2814C>T (p.Asn938=)
NM_000130.5(F5):c.282C>T (p.Val94=)
NM_000130.5(F5):c.2838A>G (p.Arg946=)
NM_000130.5(F5):c.2859A>G (p.Lys953=)
NM_000130.5(F5):c.2883T>C (p.Asp961=)
NM_000130.5(F5):c.288C>T (p.Asp96=)
NM_000130.5(F5):c.2898A>G (p.Thr966=)
NM_000130.5(F5):c.2925C>G (p.Pro975=)
NM_000130.5(F5):c.2943T>C (p.Ala981=)
NM_000130.5(F5):c.2991C>G (p.Gly997=)
NM_000130.5(F5):c.3000G>A (p.Lys1000=)
NM_000130.5(F5):c.3027A>G (p.Leu1009=)
NM_000130.5(F5):c.3072G>A (p.Gln1024=)
NM_000130.5(F5):c.3078C>G (p.Leu1026=)
NM_000130.5(F5):c.3081T>C (p.Ile1027=)
NM_000130.5(F5):c.3084G>A (p.Lys1028=)
NM_000130.5(F5):c.3087A>G (p.Thr1029=)
NM_000130.5(F5):c.3105G>A (p.Glu1035=)
NM_000130.5(F5):c.3120T>C (p.His1040=) rs1571574660
NM_000130.5(F5):c.3135G>A (p.Pro1045=) rs760055896
NM_000130.5(F5):c.315G>A (p.Lys105=)
NM_000130.5(F5):c.3165C>A (p.Ala1055=)
NM_000130.5(F5):c.3168C>T (p.Tyr1056=)
NM_000130.5(F5):c.3195G>A (p.Lys1065=)
NM_000130.5(F5):c.3201G>A (p.Ser1067=)
NM_000130.5(F5):c.3252G>A (p.Gln1084=)
NM_000130.5(F5):c.3255A>G (p.Thr1085=)
NM_000130.5(F5):c.3288A>G (p.Ser1096=) rs1571574424
NM_000130.5(F5):c.3327T>G (p.Gly1109=)
NM_000130.5(F5):c.333C>T (p.Ser111=)
NM_000130.5(F5):c.3345A>T (p.Pro1115=)
NM_000130.5(F5):c.3363G>T (p.Val1121=)
NM_000130.5(F5):c.3387A>C (p.Thr1129=)
NM_000130.5(F5):c.33G>T (p.Leu11=)
NM_000130.5(F5):c.3417C>T (p.His1139=)
NM_000130.5(F5):c.3423T>A (p.Thr1141=)
NM_000130.5(F5):c.3429C>T (p.Asp1143=)
NM_000130.5(F5):c.3456G>A (p.Glu1152=)
NM_000130.5(F5):c.3483A>G (p.Arg1161=)
NM_000130.5(F5):c.3495C>G (p.Ser1165=)
NM_000130.5(F5):c.3531A>T (p.Ser1177=)
NM_000130.5(F5):c.3552A>G (p.Thr1184=)
NM_000130.5(F5):c.3558C>A (p.Ile1186=)
NM_000130.5(F5):c.3582C>G (p.Thr1194=)
NM_000130.5(F5):c.3582C>T (p.Thr1194=)
NM_000130.5(F5):c.3585C>G (p.Leu1195=)
NM_000130.5(F5):c.3618A>G (p.Pro1206=)
NM_000130.5(F5):c.3621C>T (p.Asp1207=)
NM_000130.5(F5):c.3624C>G (p.Leu1208=)
NM_000130.5(F5):c.3624C>T (p.Leu1208=)
NM_000130.5(F5):c.3633G>A (p.Thr1211=)
NM_000130.5(F5):c.3663C>T (p.Asn1221=)
NM_000130.5(F5):c.3674C>A (p.Ala1225Asp) rs2101818750
NM_000130.5(F5):c.3678C>T (p.Leu1226=)
NM_000130.5(F5):c.3690C>T (p.Pro1230=)
NM_000130.5(F5):c.369A>T (p.Ser123=)
NM_000130.5(F5):c.373+16T>C
NM_000130.5(F5):c.373+9A>T
NM_000130.5(F5):c.3739A>G (p.Thr1247Ala)
NM_000130.5(F5):c.374-17G>A
NM_000130.5(F5):c.374-19A>T
NM_000130.5(F5):c.374-6C>T
NM_000130.5(F5):c.3768A>G (p.Thr1256=)
NM_000130.5(F5):c.3771C>T (p.Asn1257=)
NM_000130.5(F5):c.378T>C (p.Ala126=)
NM_000130.5(F5):c.3813C>G (p.Leu1271=)
NM_000130.5(F5):c.3824C>T (p.Pro1275Leu)
NM_000130.5(F5):c.3825C>G (p.Pro1275=)
NM_000130.5(F5):c.3840C>T (p.Leu1280=)
NM_000130.5(F5):c.3852C>A (p.Thr1284=)
NM_000130.5(F5):c.3859C>T (p.Leu1287=)
NM_000130.5(F5):c.3900T>C (p.His1300=)
NM_000130.5(F5):c.3909C>G (p.Leu1303=)
NM_000130.5(F5):c.3909C>T (p.Leu1303=)
NM_000130.5(F5):c.3936T>C (p.Leu1312=)
NM_000130.5(F5):c.3942A>G (p.Pro1314=)
NM_000130.5(F5):c.3951T>C (p.Gly1317=)
NM_000130.5(F5):c.3951T>G (p.Gly1317=)
NM_000130.5(F5):c.396A>T (p.Thr132=)
NM_000130.5(F5):c.3987C>A (p.Thr1329=)
NM_000130.5(F5):c.3987C>T (p.Thr1329=)
NM_000130.5(F5):c.399C>T (p.Phe133=)
NM_000130.5(F5):c.4014C>T (p.Asn1338=)
NM_000130.5(F5):c.4020T>C (p.Ser1340=)
NM_000130.5(F5):c.4023A>T (p.Pro1341=)
NM_000130.5(F5):c.402T>C (p.Pro134=)
NM_000130.5(F5):c.404C>T (p.Ala135Val)
NM_000130.5(F5):c.404_405delinsTA (p.Ala135Val)
NM_000130.5(F5):c.4068C>T (p.Pro1356=)
NM_000130.5(F5):c.4083C>A (p.Pro1361=)
NM_000130.5(F5):c.4089T>C (p.His1363=)
NM_000130.5(F5):c.4102C>T (p.Leu1368=)
NM_000130.5(F5):c.4113C>T (p.Ser1371=)
NM_000130.5(F5):c.4125C>G (p.Leu1375=)
NM_000130.5(F5):c.4143G>A (p.Gln1381=)
NM_000130.5(F5):c.4146A>T (p.Thr1382=)
NM_000130.5(F5):c.4161C>T (p.Asp1387=)
NM_000130.5(F5):c.4179C>T (p.Leu1393=)
NM_000130.5(F5):c.4206T>C (p.Leu1402=)
NM_000130.5(F5):c.420C>T (p.Asp140=)
NM_000130.5(F5):c.4218C>T (p.Leu1406=)
NM_000130.5(F5):c.4221C>T (p.Asp1407=)
NM_000130.5(F5):c.4242C>T (p.Asp1414=) rs759737015
NM_000130.5(F5):c.4269C>T (p.Asn1423=)
NM_000130.5(F5):c.4290C>T (p.Ser1430=)
NM_000130.5(F5):c.4371T>C (p.Pro1457=)
NM_000130.5(F5):c.4404A>G (p.Glu1468=)
NM_000130.5(F5):c.4410T>C (p.Ser1470=)
NM_000130.5(F5):c.4437T>C (p.Asn1479=)
NM_000130.5(F5):c.444C>T (p.Tyr148=)
NM_000130.5(F5):c.4452T>C (p.Tyr1484=)
NM_000130.5(F5):c.4476T>C (p.Ser1492=)
NM_000130.5(F5):c.4494C>T (p.Leu1498=)
NM_000130.5(F5):c.4497T>C (p.Asn1499=)
NM_000130.5(F5):c.4509A>G (p.Leu1503=)
NM_000130.5(F5):c.450T>C (p.Tyr150=)
NM_000130.5(F5):c.4528C>T (p.Leu1510=)
NM_000130.5(F5):c.4542C>T (p.Gly1514=)
NM_000130.5(F5):c.4554T>C (p.Asp1518=)
NM_000130.5(F5):c.4590G>A (p.Glu1530=)
NM_000130.5(F5):c.4596G>A (p.Gln1532=)
NM_000130.5(F5):c.4599C>T (p.Ser1533=)
NM_000130.5(F5):c.4638T>C (p.Tyr1546=)
NM_000130.5(F5):c.4656T>C (p.Thr1552=)
NM_000130.5(F5):c.4662T>C (p.Val1554=)
NM_000130.5(F5):c.4671C>T (p.Asn1557=)
NM_000130.5(F5):c.4695C>T (p.Asp1565=)
NM_000130.5(F5):c.4755T>A (p.Ala1585=)
NM_000130.5(F5):c.4796+11T>G
NM_000130.5(F5):c.4796+15C>T
NM_000130.5(F5):c.4796+17C>T
NM_000130.5(F5):c.4797-12T>C
NM_000130.5(F5):c.4797-13A>G
NM_000130.5(F5):c.4797-17T>C
NM_000130.5(F5):c.4797-19A>T
NM_000130.5(F5):c.4797-8T>G
NM_000130.5(F5):c.4813G>C (p.Asp1605His)
NM_000130.5(F5):c.4836T>C (p.Asp1612=)
NM_000130.5(F5):c.4872C>T (p.Leu1624=)
NM_000130.5(F5):c.4878C>T (p.Ser1626=)
NM_000130.5(F5):c.4905G>A (p.Gly1635=)
NM_000130.5(F5):c.492C>T (p.Asp164=)
NM_000130.5(F5):c.4971+10T>C
NM_000130.5(F5):c.4971+17C>G
NM_000130.5(F5):c.4972-15C>T
NM_000130.5(F5):c.4972-18G>A
NM_000130.5(F5):c.4989A>G (p.Leu1663=)
NM_000130.5(F5):c.4992A>T (p.Ala1664=)
NM_000130.5(F5):c.504C>T (p.Leu168=)
NM_000130.5(F5):c.5058T>C (p.Tyr1686=)
NM_000130.5(F5):c.5076A>G (p.Glu1692=)
NM_000130.5(F5):c.5094T>C (p.Asn1698=)
NM_000130.5(F5):c.5100T>C (p.Val1700=)
NM_000130.5(F5):c.510C>T (p.His170=)
NM_000130.5(F5):c.5112C>T (p.Ser1704=)
NM_000130.5(F5):c.5142G>A (p.Glu1714=)
NM_000130.5(F5):c.5151G>T (p.Gly1717=)
NM_000130.5(F5):c.5208+10T>C
NM_000130.5(F5):c.5208+14T>C
NM_000130.5(F5):c.5208+16G>C
NM_000130.5(F5):c.5209-10G>C
NM_000130.5(F5):c.5209-13T>C
NM_000130.5(F5):c.5209-20A>T
NM_000130.5(F5):c.5220T>C (p.Ile1740=)
NM_000130.5(F5):c.5244C>T (p.Leu1748=)
NM_000130.5(F5):c.5256A>G (p.Gln1752=)
NM_000130.5(F5):c.5316A>C (p.Leu1772=)
NM_000130.5(F5):c.5325C>T (p.Thr1775=)
NM_000130.5(F5):c.537C>T (p.Ile179=)
NM_000130.5(F5):c.5419+11C>T rs6008
NM_000130.5(F5):c.5419+19G>C
NM_000130.5(F5):c.5419+7T>C
NM_000130.5(F5):c.5420-14C>G
NM_000130.5(F5):c.5454G>A (p.Leu1818=)
NM_000130.5(F5):c.5454G>C (p.Leu1818=)
NM_000130.5(F5):c.5511A>G (p.Gln1837=)
NM_000130.5(F5):c.5520C>T (p.His1840=)
NM_000130.5(F5):c.552G>A (p.Ser184=)
NM_000130.5(F5):c.5535C>T (p.His1845=)
NM_000130.5(F5):c.5541G>A (p.Gln1847=) rs1571564181
NM_000130.5(F5):c.5544C>T (p.Thr1848=)
NM_000130.5(F5):c.5571C>T (p.His1857=)
NM_000130.5(F5):c.5599+15A>G
NM_000130.5(F5):c.5599+8T>C
NM_000130.5(F5):c.5600-16_5600-14del
NM_000130.5(F5):c.5601T>C (p.Gly1867=)
NM_000130.5(F5):c.5628A>G (p.Ala1876=)
NM_000130.5(F5):c.5649C>T (p.Leu1883=)
NM_000130.5(F5):c.564G>A (p.Gly188=)
NM_000130.5(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.5(F5):c.5650C>T (p.Leu1884=)
NM_000130.5(F5):c.5652A>C (p.Leu1884=)
NM_000130.5(F5):c.5658A>C (p.Thr1886=)
NM_000130.5(F5):c.5673C>G (p.Asn1891Lys)
NM_000130.5(F5):c.5716+10G>A
NM_000130.5(F5):c.5716+16T>C
NM_000130.5(F5):c.5716+20A>G
NM_000130.5(F5):c.5717-13_5717-12del
NM_000130.5(F5):c.5717-14T>C
NM_000130.5(F5):c.5717-20T>C
NM_000130.5(F5):c.5717-4A>C
NM_000130.5(F5):c.5737C>T (p.Leu1913=)
NM_000130.5(F5):c.573T>C (p.Leu191=)
NM_000130.5(F5):c.5835T>C (p.Tyr1945=)
NM_000130.5(F5):c.586+12C>T
NM_000130.5(F5):c.586+15A>C
NM_000130.5(F5):c.586+15A>G
NM_000130.5(F5):c.586+15del
NM_000130.5(F5):c.587-12T>C
NM_000130.5(F5):c.587-16G>A
NM_000130.5(F5):c.587-16_587-15del
NM_000130.5(F5):c.587-17T>C
NM_000130.5(F5):c.587-19C>T
NM_000130.5(F5):c.587-5C>G
NM_000130.5(F5):c.587-5C>T
NM_000130.5(F5):c.587-8T>C
NM_000130.5(F5):c.5892+11A>C
NM_000130.5(F5):c.5893-10T>C
NM_000130.5(F5):c.5893-17G>A
NM_000130.5(F5):c.5893-4G>A
NM_000130.5(F5):c.5893-5T>G
NM_000130.5(F5):c.5982T>C (p.Tyr1994=)
NM_000130.5(F5):c.6048+19A>G
NM_000130.5(F5):c.6049-14C>T
NM_000130.5(F5):c.6066A>G (p.Ser2022=)
NM_000130.5(F5):c.6117A>G (p.Arg2039=)
NM_000130.5(F5):c.612G>A (p.Gln204=)
NM_000130.5(F5):c.6150C>T (p.Asn2050=)
NM_000130.5(F5):c.6171A>G (p.Glu2057=)
NM_000130.5(F5):c.618G>A (p.Thr206=)
NM_000130.5(F5):c.6193+11A>G
NM_000130.5(F5):c.6193+15T>C
NM_000130.5(F5):c.6193+15T>G
NM_000130.5(F5):c.6193+19T>C
NM_000130.5(F5):c.6194-19G>A
NM_000130.5(F5):c.6194-20C>T
NM_000130.5(F5):c.6222T>C (p.Asn2074=)
NM_000130.5(F5):c.624C>T (p.Asp208=)
NM_000130.5(F5):c.6258G>A (p.Ser2086=)
NM_000130.5(F5):c.6285C>T (p.Tyr2095=)
NM_000130.5(F5):c.6294C>T (p.Pro2098=)
NM_000130.5(F5):c.6303C>G (p.Ala2101=)
NM_000130.5(F5):c.6312T>C (p.Asn2104=)
NM_000130.5(F5):c.633C>T (p.Ile211=)
NM_000130.5(F5):c.6345+11C>G
NM_000130.5(F5):c.6345+13C>G
NM_000130.5(F5):c.6345+13C>T
NM_000130.5(F5):c.6345+16T>C
NM_000130.5(F5):c.6345+16T>G
NM_000130.5(F5):c.6345+9T>C
NM_000130.5(F5):c.6346-4A>G
NM_000130.5(F5):c.6346-5C>T
NM_000130.5(F5):c.6346-9T>C
NM_000130.5(F5):c.636G>A (p.Val212=)
NM_000130.5(F5):c.6381A>G (p.Leu2127=)
NM_000130.5(F5):c.6384C>G (p.Leu2128=)
NM_000130.5(F5):c.6396G>A (p.Lys2132=)
NM_000130.5(F5):c.639A>G (p.Leu213=)
NM_000130.5(F5):c.6417G>A (p.Gln2139=)
NM_000130.5(F5):c.6435C>A (p.Ser2145=)
NM_000130.5(F5):c.6435C>T (p.Ser2145=)
NM_000130.5(F5):c.6438T>C (p.Ser2146=)
NM_000130.5(F5):c.6489A>G (p.Glu2163=)
NM_000130.5(F5):c.6504G>A (p.Arg2168=)
NM_000130.5(F5):c.6516C>T (p.Ser2172=)
NM_000130.5(F5):c.6528+17G>T
NM_000130.5(F5):c.6528+9G>A
NM_000130.5(F5):c.6529-11T>C
NM_000130.5(F5):c.6529-12T>C
NM_000130.5(F5):c.6579C>T (p.Asn2193=)
NM_000130.5(F5):c.6621A>G (p.Thr2207=)
NM_000130.5(F5):c.6645C>T (p.Arg2215=)
NM_000130.5(F5):c.6657T>C (p.Phe2219=)
NM_000130.5(F5):c.6660C>T (p.Gly2220=)
NM_000130.5(F5):c.681A>G (p.Ser227=)
NM_000130.5(F5):c.702C>T (p.Val234=)
NM_000130.5(F5):c.705T>C (p.Asn235=)
NM_000130.5(F5):c.708A>T (p.Gly236=)
NM_000130.5(F5):c.711T>C (p.Tyr237=)
NM_000130.5(F5):c.72A>G (p.Gln24=)
NM_000130.5(F5):c.730+10G>C
NM_000130.5(F5):c.730+15G>T
NM_000130.5(F5):c.730+8G>A
NM_000130.5(F5):c.731-10T>A
NM_000130.5(F5):c.731-11C>T
NM_000130.5(F5):c.731-13C>T
NM_000130.5(F5):c.731-15C>T
NM_000130.5(F5):c.731-9C>A
NM_000130.5(F5):c.731-9C>G
NM_000130.5(F5):c.731-9C>T
NM_000130.5(F5):c.747C>A (p.Ala249=)
NM_000130.5(F5):c.783C>T (p.Ser261=)
NM_000130.5(F5):c.786G>A (p.Ser262=)
NM_000130.5(F5):c.795A>G (p.Glu265=)
NM_000130.5(F5):c.826C>T (p.Leu276=)
NM_000130.5(F5):c.843T>C (p.His281=)
NM_000130.5(F5):c.849C>G (p.Val283=)
NM_000130.5(F5):c.84G>A (p.Ala28=)
NM_000130.5(F5):c.861C>A (p.Thr287=)
NM_000130.5(F5):c.87A>G (p.Ala29=)
NM_000130.5(F5):c.906A>G (p.Pro302=)
NM_000130.5(F5):c.933C>T (p.Leu311=)
NM_000130.5(F5):c.93A>T (p.Leu31=)
NM_000130.5(F5):c.952+10T>A
NM_000130.5(F5):c.952+12T>C
NM_000130.5(F5):c.952+16G>A
NM_000130.5(F5):c.952+16G>T
NM_000130.5(F5):c.952+18C>T
NM_000130.5(F5):c.953-10C>T
NM_000130.5(F5):c.953-13T>C
NM_000130.5(F5):c.953-20G>A
NM_000130.5(F5):c.957G>C (p.Gly319=)
NM_000130.5(F5):c.966T>A (p.Ala322=)
NM_000130.5(F5):c.993G>A (p.Lys331=)

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.