Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26482462A>CCA346135244OTOFc.1523T>G (p.Val508Gly)
c.1568T>G (p.Val523Gly)
 gnomAD v4
2g.26482462A>GCA346135247OTOFc.1523T>C (p.Val508Ala)
c.1568T>C (p.Val523Ala)
2g.26482462A>TCA346135249OTOFc.1523T>A (p.Val508Glu)
c.1568T>A (p.Val523Glu)
2g.26482463C>ACA346135252OTOFc.1522G>T (p.Val508Leu)
c.1567G>T (p.Val523Leu)
 COSMIC
2g.26482463C=CA1239828962OTOFc.1522G= (p.Val508=)
c.1567G= (p.Val523=)
2g.26482463C>GCA346135254OTOFc.1522G>C (p.Val508Leu)
c.1567G>C (p.Val523Leu)
2g.26482463C>TCA1564252OTOFc.1522G>A (p.Val508Met)
c.1567G>A (p.Val523Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482464G>ACA1564253OTOFc.1521C>T (p.Asp507=)
c.1566C>T (p.Asp522=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482464G>CCA346135260OTOFc.1521C>G (p.Asp507Glu)
c.1566C>G (p.Asp522Glu)
 gnomAD v4
2g.26482464G=CA1239828965OTOFc.1521C= (p.Asp507=)
c.1566C= (p.Asp522=)
2g.26482464G>TCA346135258OTOFc.1521C>A (p.Asp507Glu)
c.1566C>A (p.Asp522Glu)
2g.26482465T>ACA346135263OTOFc.1520A>T (p.Asp507Val)
c.1565A>T (p.Asp522Val)
 dbSNP
2g.26482465T>CCA346135265OTOFc.1520A>G (p.Asp507Gly)
c.1565A>G (p.Asp522Gly)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.26482465T>GCA346135267OTOFc.1520A>C (p.Asp507Ala)
c.1565A>C (p.Asp522Ala)
2g.26482465T=CA1239828968OTOFc.1520A= (p.Asp507=)
c.1565A= (p.Asp522=)
2g.26482466C>ACA346135270OTOFc.1519G>T (p.Asp507Tyr)
c.1564G>T (p.Asp522Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.26482466C=CA1239828971OTOFc.1519G= (p.Asp507=)
c.1564G= (p.Asp522=)
2g.26482466C>GCA346135272OTOFc.1519G>C (p.Asp507His)
c.1564G>C (p.Asp522His)
2g.26482466C>TCA346135275OTOFc.1519G>A (p.Asp507Asn)
c.1564G>A (p.Asp522Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.26482467G>ACA1564254OTOFc.1518C>T (p.Asn506=)
c.1563C>T (p.Asn521=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482467G>CCA346135278OTOFc.1518C>G (p.Asn506Lys)
c.1563C>G (p.Asn521Lys)
2g.26482467G=CA1239828973OTOFc.1518C= (p.Asn506=)
c.1563C= (p.Asn521=)
2g.26482467G>TCA346135280OTOFc.1518C>A (p.Asn506Lys)
c.1563C>A (p.Asn521Lys)
2g.26482468T>ACA346135281OTOFc.1517A>T (p.Asn506Ile)
c.1562A>T (p.Asn521Ile)
2g.26482468T>CCA346135283OTOFc.1517A>G (p.Asn506Ser)
c.1562A>G (p.Asn521Ser)
 gnomAD v4 COSMIC
2g.26482468T>GCA346135286OTOFc.1517A>C (p.Asn506Thr)
c.1562A>C (p.Asn521Thr)
2g.26482469T>ACA346135291OTOFc.1516A>T (p.Asn506Tyr)
c.1561A>T (p.Asn521Tyr)
2g.26482469T>CCA346135294OTOFc.1516A>G (p.Asn506Asp)
c.1561A>G (p.Asn521Asp)
2g.26482469T>GCA346135289OTOFc.1516A>C (p.Asn506His)
c.1561A>C (p.Asn521His)
2g.26482470G>ACA425206509OTOFc.1515C>T (p.Val505=)
c.1560C>T (p.Val520=)
 ClinVar
2g.26482470G>CCA425206510OTOFc.1515C>G (p.Val505=)
c.1560C>G (p.Val520=)
2g.26482470G>TCA425206511OTOFc.1515C>A (p.Val505=)
c.1560C>A (p.Val520=)
2g.26482471A=CA1239828976OTOFc.1514T= (p.Val505=)
c.1559T= (p.Val520=)
2g.26482471A>CCA346135296OTOFc.1514T>G (p.Val505Gly)
c.1559T>G (p.Val520Gly)
2g.26482471A>GCA346135299OTOFc.1514T>C (p.Val505Ala)
c.1559T>C (p.Val520Ala)
2g.26482471A>TCA346135298OTOFc.1514T>A (p.Val505Asp)
c.1559T>A (p.Val520Asp)
2g.26482472C>ACA346135300OTOFc.1513G>T (p.Val505Phe)
c.1558G>T (p.Val520Phe)
2g.26482472C=CA1239828978OTOFc.1513G= (p.Val505=)
c.1558G= (p.Val520=)
2g.26482472C>GCA346135302OTOFc.1513G>C (p.Val505Leu)
c.1558G>C (p.Val520Leu)
2g.26482472C>TCA346135303OTOFc.1513G>A (p.Val505Ile)
c.1558G>A (p.Val520Ile)
 dbSNP gnomAD v4
2g.26482473dupCA44401568OTOFc.1513dup (p.Val505GlyfsTer12)
c.1558dup (p.Val520GlyfsTer12)
 dbSNP
2g.26482473C>ACA1564255OTOFc.1512G>T (p.Lys504Asn)
c.1557G>T (p.Lys519Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482473C=CA1239828984OTOFc.1512G= (p.Lys504=)
c.1557G= (p.Lys519=)
2g.26482473C>GCA346135307OTOFc.1512G>C (p.Lys504Asn)
c.1557G>C (p.Lys519Asn)
2g.26482473C>TCA425206518OTOFc.1512G>A (p.Lys504=)
c.1557G>A (p.Lys519=)
 gnomAD v4
2g.26482474T>ACA346135309OTOFc.1511A>T (p.Lys504Met)
c.1556A>T (p.Lys519Met)
2g.26482474T>CCA346135311OTOFc.1511A>G (p.Lys504Arg)
c.1556A>G (p.Lys519Arg)
2g.26482474T>GCA346135312OTOFc.1511A>C (p.Lys504Thr)
c.1556A>C (p.Lys519Thr)
2g.26482475T>ACA346135315OTOFc.1510A>T (p.Lys504Ter)
c.1555A>T (p.Lys519Ter)
2g.26482475T>CCA346135316OTOFc.1510A>G (p.Lys504Glu)
c.1555A>G (p.Lys519Glu)
2g.26482475T>GCA346135317OTOFc.1510A>C (p.Lys504Gln)
c.1555A>C (p.Lys519Gln)
2g.26482476G>ACA425206528OTOFc.1509C>T (p.Asp503=)
c.1554C>T (p.Asp518=)
 dbSNP gnomAD v2 gnomAD v4
2g.26482476G>CCA346135320OTOFc.1509C>G (p.Asp503Glu)
c.1554C>G (p.Asp518Glu)
2g.26482476G=CA1239828988OTOFc.1509C= (p.Asp503=)
c.1554C= (p.Asp518=)
2g.26482476G>TCA1564256OTOFc.1509C>A (p.Asp503Glu)
c.1554C>A (p.Asp518Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482477T>ACA346135324OTOFc.1508A>T (p.Asp503Val)
c.1553A>T (p.Asp518Val)
2g.26482477T>CCA346135328OTOFc.1508A>G (p.Asp503Gly)
c.1553A>G (p.Asp518Gly)
 dbSNP
2g.26482477T>GCA346135325OTOFc.1508A>C (p.Asp503Ala)
c.1553A>C (p.Asp518Ala)
2g.26482478C>ACA346135331OTOFc.1507G>T (p.Asp503Tyr)
c.1552G>T (p.Asp518Tyr)
2g.26482478C>GCA346135333OTOFc.1507G>C (p.Asp503His)
c.1552G>C (p.Asp518His)
2g.26482478C>TCA346135336OTOFc.1507G>A (p.Asp503Asn)
c.1552G>A (p.Asp518Asn)
2g.26482479delCA2658238774OTOFc.1507del (p.Asp503ThrfsTer?)
c.1552del (p.Asp518ThrfsTer?)
 gnomAD v4
2g.26482479C>ACA425206536OTOFc.1506G>T (p.Ser502=)
c.1551G>T (p.Ser517=)
2g.26482479C=CA1239828994OTOFc.1506G= (p.Ser502=)
c.1551G= (p.Ser517=)
2g.26482479C>GCA425206537OTOFc.1506G>C (p.Ser502=)
c.1551G>C (p.Ser517=)
 gnomAD v4
2g.26482479C>TCA142746OTOFc.1506G>A (p.Ser502=)
c.1551G>A (p.Ser517=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482480G>ACA44401577OTOFc.1505C>T (p.Ser502Leu)
c.1550C>T (p.Ser517Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482480G>CCA346135344OTOFc.1505C>G (p.Ser502Trp)
c.1550C>G (p.Ser517Trp)
2g.26482480G=CA1239829000OTOFc.1505C= (p.Ser502=)
c.1550C= (p.Ser517=)
2g.26482480G>TCA346135347OTOFc.1505C>A (p.Ser502Ter)
c.1550C>A (p.Ser517Ter)
2g.26482481A>CCA346135351OTOFc.1504T>G (p.Ser502Ala)
c.1549T>G (p.Ser517Ala)
2g.26482481A>GCA346135352OTOFc.1504T>C (p.Ser502Pro)
c.1549T>C (p.Ser517Pro)
2g.26482481A>TCA346135354OTOFc.1504T>A (p.Ser502Thr)
c.1549T>A (p.Ser517Thr)
2g.26482482G>ACA44401580OTOFc.1503C>T (p.Asp501=)
c.1548C>T (p.Asp516=)
 dbSNP gnomAD v4
2g.26482482G>CCA346135359OTOFc.1503C>G (p.Asp501Glu)
c.1548C>G (p.Asp516Glu)
 gnomAD v4
2g.26482482G=CA1239829002OTOFc.1503C= (p.Asp501=)
c.1548C= (p.Asp516=)
2g.26482482G>TCA346135356OTOFc.1503C>A (p.Asp501Glu)
c.1548C>A (p.Asp516Glu)
2g.26482483T>ACA346135363OTOFc.1502A>T (p.Asp501Val)
c.1547A>T (p.Asp516Val)
 dbSNP
2g.26482483T>CCA346135366OTOFc.1502A>G (p.Asp501Gly)
c.1547A>G (p.Asp516Gly)
2g.26482483T>GCA346135368OTOFc.1502A>C (p.Asp501Ala)
c.1547A>C (p.Asp516Ala)
2g.26482483T=CA1239829008OTOFc.1502A= (p.Asp501=)
c.1547A= (p.Asp516=)
2g.26482484C>ACA346135372OTOFc.1501G>T (p.Asp501Tyr)
c.1546G>T (p.Asp516Tyr)
2g.26482484C>GCA346135374OTOFc.1501G>C (p.Asp501His)
c.1546G>C (p.Asp516His)
2g.26482484C>TCA346135376OTOFc.1501G>A (p.Asp501Asn)
c.1546G>A (p.Asp516Asn)
2g.26482485T>ACA425206556OTOFc.1500A>T (p.Arg500=)
c.1545A>T (p.Arg515=)
2g.26482485T>CCA425206555OTOFc.1500A>G (p.Arg500=)
c.1545A>G (p.Arg515=)
2g.26482485T>GCA425206554OTOFc.1500A>C (p.Arg500=)
c.1545A>C (p.Arg515=)
2g.26482486C>ACA346135381OTOFc.1499G>T (p.Arg500Leu)
c.1544G>T (p.Arg515Leu)
2g.26482486C=CA1239829012OTOFc.1499G= (p.Arg500=)
c.1544G= (p.Arg515=)
2g.26482486C>GCA346135380OTOFc.1499G>C (p.Arg500Pro)
c.1544G>C (p.Arg515Pro)
2g.26482486C>TCA1564257OTOFc.1499G>A (p.Arg500Gln)
c.1544G>A (p.Arg515Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482487G>ACA1564258OTOFc.1498C>T (p.Arg500Ter)
c.1543C>T (p.Arg515Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482487G>CCA346135385OTOFc.1498C>G (p.Arg500Gly)
c.1543C>G (p.Arg515Gly)
2g.26482487G=CA1239829015OTOFc.1498C= (p.Arg500=)
c.1543C= (p.Arg515=)
2g.26482487G>TCA425206560OTOFc.1498C>A (p.Arg500=)
c.1543C>A (p.Arg515=)
2g.26482488G>ACA425206562OTOFc.1497C>T (p.Ile499=)
c.1542C>T (p.Ile514=)
2g.26482488G>CCA346135389OTOFc.1497C>G (p.Ile499Met)
c.1542C>G (p.Ile514Met)
2g.26482488G>TCA425206564OTOFc.1497C>A (p.Ile499=)
c.1542C>A (p.Ile514=)
2g.26482489A>CCA346135393OTOFc.1496T>G (p.Ile499Ser)
c.1541T>G (p.Ile514Ser)
2g.26482489A>GCA346135395OTOFc.1496T>C (p.Ile499Thr)
c.1541T>C (p.Ile514Thr)
2g.26482489A>TCA346135397OTOFc.1496T>A (p.Ile499Asn)
c.1541T>A (p.Ile514Asn)
2g.26482490T>ACA346135401OTOFc.1495A>T (p.Ile499Phe)
c.1540A>T (p.Ile514Phe)
2g.26482490T>CCA346135405OTOFc.1495A>G (p.Ile499Val)
c.1540A>G (p.Ile514Val)
2g.26482490T>GCA346135403OTOFc.1495A>C (p.Ile499Leu)
c.1540A>C (p.Ile514Leu)
2g.26482491C>ACA346135409OTOFc.1494G>T (p.Gln498His)
c.1539G>T (p.Gln513His)
2g.26482491C>GCA346135412OTOFc.1494G>C (p.Gln498His)
c.1539G>C (p.Gln513His)
2g.26482491C>TCA425206574OTOFc.1494G>A (p.Gln498=)
c.1539G>A (p.Gln513=)
2g.26482492T>ACA346135416OTOFc.1493A>T (p.Gln498Leu)
c.1538A>T (p.Gln513Leu)
2g.26482492T>CCA346135418OTOFc.1493A>G (p.Gln498Arg)
c.1538A>G (p.Gln513Arg)
2g.26482492T>GCA346135420OTOFc.1493A>C (p.Gln498Pro)
c.1538A>C (p.Gln513Pro)
 ClinVar
2g.26482493G>ACA346135424OTOFc.1492C>T (p.Gln498Ter)
c.1537C>T (p.Gln513Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.26482493G>CCA346135425OTOFc.1492C>G (p.Gln498Glu)
c.1537C>G (p.Gln513Glu)
2g.26482493G=CA1239829017OTOFc.1492C= (p.Gln498=)
c.1537C= (p.Gln513=)
2g.26482493G>TCA346135427OTOFc.1492C>A (p.Gln498Lys)
c.1537C>A (p.Gln513Lys)
2g.26482494C>ACA425206578OTOFc.1491G>T (p.Val497=)
c.1536G>T (p.Val512=)
2g.26482494C>GCA425206579OTOFc.1491G>C (p.Val497=)
c.1536G>C (p.Val512=)
2g.26482494C>TCA425206581OTOFc.1491G>A (p.Val497=)
c.1536G>A (p.Val512=)
2g.26482495A>CCA346135430OTOFc.1490T>G (p.Val497Gly)
c.1535T>G (p.Val512Gly)
 gnomAD v4
2g.26482495A>GCA346135433OTOFc.1490T>C (p.Val497Ala)
c.1535T>C (p.Val512Ala)
2g.26482495A>TCA346135435OTOFc.1490T>A (p.Val497Glu)
c.1535T>A (p.Val512Glu)
2g.26482496C>ACA346135439OTOFc.1489G>T (p.Val497Leu)
c.1534G>T (p.Val512Leu)
 dbSNP
2g.26482496C=CA1239829025OTOFc.1489G= (p.Val497=)
c.1534G= (p.Val512=)
2g.26482496C>GCA346135442OTOFc.1489G>C (p.Val497Leu)
c.1534G>C (p.Val512Leu)
2g.26482496C>TCA1564259OTOFc.1489G>A (p.Val497Met)
c.1534G>A (p.Val512Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482497C>ACA346135445OTOFc.1488G>T (p.Lys496Asn)
c.1533G>T (p.Lys511Asn)
2g.26482497C>GCA346135448OTOFc.1488G>C (p.Lys496Asn)
c.1533G>C (p.Lys511Asn)
 gnomAD v4
2g.26482497C>TCA425206586OTOFc.1488G>A (p.Lys496=)
c.1533G>A (p.Lys511=)
2g.26482498T>ACA346135461OTOFc.1487A>T (p.Lys496Met)
c.1532A>T (p.Lys511Met)
2g.26482498T>CCA346135464OTOFc.1487A>G (p.Lys496Arg)
c.1532A>G (p.Lys511Arg)
2g.26482498T>GCA346135462OTOFc.1487A>C (p.Lys496Thr)
c.1532A>C (p.Lys511Thr)
2g.26482499T>ACA346135468OTOFc.1486A>T (p.Lys496Ter)
c.1531A>T (p.Lys511Ter)
2g.26482499T>CCA346135483OTOFc.1486A>G (p.Lys496Glu)
c.1531A>G (p.Lys511Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.26482499T>GCA346135486OTOFc.1486A>C (p.Lys496Gln)
c.1531A>C (p.Lys511Gln)
2g.26482499T=CA1239829031OTOFc.1486A= (p.Lys496=)
c.1531A= (p.Lys511=)
2g.26482500C>ACA346135491OTOFc.1485G>T (p.Met495Ile)
c.1530G>T (p.Met510Ile)
 COSMIC
2g.26482500C>GCA346135493OTOFc.1485G>C (p.Met495Ile)
c.1530G>C (p.Met510Ile)
2g.26482500C>TCA346135495OTOFc.1485G>A (p.Met495Ile)
c.1530G>A (p.Met510Ile)
2g.26482501A=CA1239829032OTOFc.1484T= (p.Met495=)
c.1529T= (p.Met510=)
2g.26482501A>CCA346135498OTOFc.1484T>G (p.Met495Arg)
c.1529T>G (p.Met510Arg)
 gnomAD v4
2g.26482501A>GCA346135500OTOFc.1484T>C (p.Met495Thr)
c.1529T>C (p.Met510Thr)
 dbSNP gnomAD v4
2g.26482501A>TCA346135503OTOFc.1484T>A (p.Met495Lys)
c.1529T>A (p.Met510Lys)
2g.26482502T>ACA346135506OTOFc.1483A>T (p.Met495Leu)
c.1528A>T (p.Met510Leu)
2g.26482502T>CCA346135508OTOFc.1483A>G (p.Met495Val)
c.1528A>G (p.Met510Val)
2g.26482502T>GCA346135510OTOFc.1483A>C (p.Met495Leu)
c.1528A>C (p.Met510Leu)
2g.26482503G>ACA425206592OTOFc.1482C>T (p.Arg494=)
c.1527C>T (p.Arg509=)
2g.26482503G>CCA425206594OTOFc.1482C>G (p.Arg494=)
c.1527C>G (p.Arg509=)
 dbSNP gnomAD v2 gnomAD v4
2g.26482503G=CA1239829035OTOFc.1482C= (p.Arg494=)
c.1527C= (p.Arg509=)
2g.26482503G>TCA425206593OTOFc.1482C>A (p.Arg494=)
c.1527C>A (p.Arg509=)
2g.26482504delCA645529723OTOFc.1481del (p.Arg494ProfsTer2)
c.1526del (p.Arg509ProfsTer2)
 COSMIC
2g.26482504C>ACA44401587OTOFc.1481G>T (p.Arg494Leu)
c.1526G>T (p.Arg509Leu)
 dbSNP gnomAD v4
2g.26482504C=CA1239829040OTOFc.1481G= (p.Arg494=)
c.1526G= (p.Arg509=)
2g.26482504C>GCA346135514OTOFc.1481G>C (p.Arg494Pro)
c.1526G>C (p.Arg509Pro)
2g.26482504C>TCA1564260OTOFc.1481G>A (p.Arg494His)
c.1526G>A (p.Arg509His)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26482504_26482506delCA2586968846OTOFc.1479_1481del (p.Lys493_Arg494delinsAsn)
c.1524_1526del (p.Lys508_Arg509delinsAsn)
2g.26482505G>ACA1564261OTOFc.1480C>T (p.Arg494Cys)
c.1525C>T (p.Arg509Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482505G>CCA346135523OTOFc.1480C>G (p.Arg494Gly)
c.1525C>G (p.Arg509Gly)
2g.26482505G=CA1239829045OTOFc.1480C= (p.Arg494=)
c.1525C= (p.Arg509=)
2g.26482505G>TCA346135526OTOFc.1480C>A (p.Arg494Ser)
c.1525C>A (p.Arg509Ser)
 COSMIC
2g.26482506T>ACA346135528OTOFc.1479A>T (p.Lys493Asn)
c.1524A>T (p.Lys508Asn)
2g.26482506T>CCA425206602OTOFc.1479A>G (p.Lys493=)
c.1524A>G (p.Lys508=)
2g.26482506T>GCA346135531OTOFc.1479A>C (p.Lys493Asn)
c.1524A>C (p.Lys508Asn)
2g.26482507_26482508dupCA2658238775OTOFc.1478_1479dup (p.Arg494AsnfsTer3)
c.1523_1524dup (p.Arg509AsnfsTer3)
 gnomAD v4
2g.26482508delCA2658238776OTOFc.1479del (p.Lys493AsnfsTer3)
c.1524del (p.Lys508AsnfsTer3)
 gnomAD v4
2g.26482507T>ACA346135534OTOFc.1478A>T (p.Lys493Ile)
c.1523A>T (p.Lys508Ile)
2g.26482507T>CCA346135537OTOFc.1478A>G (p.Lys493Arg)
c.1523A>G (p.Lys508Arg)
2g.26482507T>GCA346135539OTOFc.1478A>C (p.Lys493Thr)
c.1523A>C (p.Lys508Thr)
2g.26482508T>ACA346135541OTOFc.1477A>T (p.Lys493Ter)
c.1522A>T (p.Lys508Ter)
2g.26482508T>CCA346135542OTOFc.1477A>G (p.Lys493Glu)
c.1522A>G (p.Lys508Glu)
2g.26482508T>GCA346135544OTOFc.1477A>C (p.Lys493Gln)
c.1522A>C (p.Lys508Gln)
2g.26482509G>ACA425206605OTOFc.1476C>T (p.Cys492=)
c.1521C>T (p.Cys507=)
2g.26482509G>CCA346135547OTOFc.1476C>G (p.Cys492Trp)
c.1521C>G (p.Cys507Trp)
2g.26482509G>TCA346135549OTOFc.1476C>A (p.Cys492Ter)
c.1521C>A (p.Cys507Ter)
2g.26482510C>ACA346135553OTOFc.1475G>T (p.Cys492Phe)
c.1520G>T (p.Cys507Phe)
2g.26482510C=CA1239829048OTOFc.1475G= (p.Cys492=)
c.1520G= (p.Cys507=)
2g.26482510C>GCA346135555OTOFc.1475G>C (p.Cys492Ser)
c.1520G>C (p.Cys507Ser)
2g.26482510C>TCA346135557OTOFc.1475G>A (p.Cys492Tyr)
c.1520G>A (p.Cys507Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.26482511A=CA1239829049OTOFc.1474T= (p.Cys492=)
c.1519T= (p.Cys507=)
2g.26482511A>CCA346135559OTOFc.1474T>G (p.Cys492Gly)
c.1519T>G (p.Cys507Gly)
2g.26482511A>GCA346135562OTOFc.1474T>C (p.Cys492Arg)
c.1519T>C (p.Cys507Arg)
 dbSNP gnomAD v4
2g.26482511A>TCA346135565OTOFc.1474T>A (p.Cys492Ser)
c.1519T>A (p.Cys507Ser)
2g.26482512G>ACA425206618OTOFc.1473C>T (p.Leu491=)
c.1518C>T (p.Leu506=)
 dbSNP gnomAD v4
2g.26482512G>CCA425206620OTOFc.1473C>G (p.Leu491=)
c.1518C>G (p.Leu506=)
2g.26482512G=CA1239829051OTOFc.1473C= (p.Leu491=)
c.1518C= (p.Leu506=)
2g.26482512G>TCA425206621OTOFc.1473C>A (p.Leu491=)
c.1518C>A (p.Leu506=)
2g.26482513A>CCA346135567OTOFc.1472T>G (p.Leu491Arg)
c.1517T>G (p.Leu506Arg)
2g.26482513A>GCA346135570OTOFc.1472T>C (p.Leu491Pro)
c.1517T>C (p.Leu506Pro)
2g.26482513A>TCA346135572OTOFc.1472T>A (p.Leu491His)
c.1517T>A (p.Leu506His)
 gnomAD v4
2g.26482514G>ACA1564262OTOFc.1471C>T (p.Leu491Phe)
c.1516C>T (p.Leu506Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482514G>CCA346135577OTOFc.1471C>G (p.Leu491Val)
c.1516C>G (p.Leu506Val)
2g.26482514G=CA1239829056OTOFc.1471C= (p.Leu491=)
c.1516C= (p.Leu506=)
2g.26482514G>TCA346135580OTOFc.1471C>A (p.Leu491Ile)
c.1516C>A (p.Leu506Ile)
2g.26482515T>ACA425206623OTOFc.1470A>T (p.Pro490=)
c.1515A>T (p.Pro505=)
2g.26482515T>CCA425206624OTOFc.1470A>G (p.Pro490=)
c.1515A>G (p.Pro505=)
2g.26482515T>GCA425206626OTOFc.1470A>C (p.Pro490=)
c.1515A>C (p.Pro505=)
 gnomAD v4
2g.26482515_26482516delinsTGCA1239829062OTOFc.1469_1470delinsCA (p.Pro490=)
c.1514_1515delinsCA (p.Pro505=)
2g.26482516G>ACA44401598OTOFc.1469C>T (p.Pro490Leu)
c.1514C>T (p.Pro505Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26482516G>CCA142742OTOFc.1469C>G (p.Pro490Arg)
c.1514C>G (p.Pro505Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482516G=CA1239829075OTOFc.1469C= (p.Pro490=)
c.1514C= (p.Pro505=)
2g.26482516G>TCA342559OTOFc.1469C>A (p.Pro490Gln)
c.1514C>A (p.Pro505Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482521dupCA531395944OTOFc.1469dup (p.Leu491ThrfsTer26)
c.1514dup (p.Leu506ThrfsTer26)
 dbSNP gnomAD v2 gnomAD v4
2g.26482521delCA1564263OTOFc.1469del (p.Pro490HisfsTer6)
c.1514del (p.Pro505HisfsTer6)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482520_26482521delCA2658238777OTOFc.1468_1469del (p.Pro490ThrfsTer26)
c.1513_1514del (p.Pro505ThrfsTer26)
 ClinVar gnomAD v4
2g.26482517G>ACA346135591OTOFc.1468C>T (p.Pro490Ser)
c.1513C>T (p.Pro505Ser)
 gnomAD v4
2g.26482517G>CCA346135594OTOFc.1468C>G (p.Pro490Ala)
c.1513C>G (p.Pro505Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26482517G=CA1239829082OTOFc.1468C= (p.Pro490=)
c.1513C= (p.Pro505=)
2g.26482517G>TCA346135595OTOFc.1468C>A (p.Pro490Thr)
c.1513C>A (p.Pro505Thr)
2g.26482518G>ACA425206628OTOFc.1467C>T (p.Pro489=)
c.1512C>T (p.Pro504=)
 gnomAD v4
2g.26482518G>CCA425206631OTOFc.1467C>G (p.Pro489=)
c.1512C>G (p.Pro504=)
2g.26482518G>TCA425206629OTOFc.1467C>A (p.Pro489=)
c.1512C>A (p.Pro504=)
2g.26482519G>ACA346135601OTOFc.1466C>T (p.Pro489Leu)
c.1511C>T (p.Pro504Leu)
2g.26482519G>CCA346135609OTOFc.1466C>G (p.Pro489Arg)
c.1511C>G (p.Pro504Arg)
2g.26482519G>TCA346135611OTOFc.1466C>A (p.Pro489His)
c.1511C>A (p.Pro504His)
2g.26482520G>ACA346135618OTOFc.1465C>T (p.Pro489Ser)
c.1510C>T (p.Pro504Ser)
2g.26482520G>CCA346135620OTOFc.1465C>G (p.Pro489Ala)
c.1510C>G (p.Pro504Ala)
2g.26482520G>TCA346135622OTOFc.1465C>A (p.Pro489Thr)
c.1510C>A (p.Pro504Thr)
 gnomAD v4
2g.26482521G>ACA425206636OTOFc.1464C>T (p.Phe488=)
c.1509C>T (p.Phe503=)
 dbSNP COSMIC
2g.26482521G>CCA346135624OTOFc.1464C>G (p.Phe488Leu)
c.1509C>G (p.Phe503Leu)
2g.26482521G=CA1239829087OTOFc.1464C= (p.Phe488=)
c.1509C= (p.Phe503=)
2g.26482521G>TCA1564264OTOFc.1464C>A (p.Phe488Leu)
c.1509C>A (p.Phe503Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482522A=CA1239829091OTOFc.1463T= (p.Phe488=)
c.1508T= (p.Phe503=)
2g.26482522A>CCA346135631OTOFc.1463T>G (p.Phe488Cys)
c.1508T>G (p.Phe503Cys)
 gnomAD v4
2g.26482522A>GCA346135628OTOFc.1463T>C (p.Phe488Ser)
c.1508T>C (p.Phe503Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.26482522A>TCA346135627OTOFc.1463T>A (p.Phe488Tyr)
c.1508T>A (p.Phe503Tyr)
2g.26482523A=CA1239829096OTOFc.1462T= (p.Phe488=)
c.1507T= (p.Phe503=)
2g.26482523A>CCA346135635OTOFc.1462T>G (p.Phe488Val)
c.1507T>G (p.Phe503Val)
2g.26482523A>GCA44401603OTOFc.1462T>C (p.Phe488Leu)
c.1507T>C (p.Phe503Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26482523A>TCA346135637OTOFc.1462T>A (p.Phe488Ile)
c.1507T>A (p.Phe503Ile)
2g.26482524G>ACA425206646OTOFc.1461C>T (p.Leu487=)
c.1506C>T (p.Leu502=)
 gnomAD v4
2g.26482524G>CCA425206644OTOFc.1461C>G (p.Leu487=)
c.1506C>G (p.Leu502=)
2g.26482524G>TCA425206647OTOFc.1461C>A (p.Leu487=)
c.1506C>A (p.Leu502=)
2g.26482525A>CCA346135639OTOFc.1460T>G (p.Leu487Arg)
c.1505T>G (p.Leu502Arg)
2g.26482525A>GCA346135640OTOFc.1460T>C (p.Leu487Pro)
c.1505T>C (p.Leu502Pro)
2g.26482525A>TCA346135641OTOFc.1460T>A (p.Leu487His)
c.1505T>A (p.Leu502His)
 gnomAD v4
2g.26482526G>ACA346135642OTOFc.1459C>T (p.Leu487Phe)
c.1504C>T (p.Leu502Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.26482526G>CCA346135643OTOFc.1459C>G (p.Leu487Val)
c.1504C>G (p.Leu502Val)
2g.26482526G=CA1239829098OTOFc.1459C= (p.Leu487=)
c.1504C= (p.Leu502=)
2g.26482526G>TCA346135644OTOFc.1459C>A (p.Leu487Ile)
c.1504C>A (p.Leu502Ile)
2g.26482527G>ACA425206658OTOFc.1458C>T (p.Asp486=)
c.1503C>T (p.Asp501=)
 ClinVar gnomAD v4
2g.26482527G>CCA346135645OTOFc.1458C>G (p.Asp486Glu)
c.1503C>G (p.Asp501Glu)
2g.26482527G>TCA346135647OTOFc.1458C>A (p.Asp486Glu)
c.1503C>A (p.Asp501Glu)
2g.26482528T>ACA346135649OTOFc.1457A>T (p.Asp486Val)
c.1502A>T (p.Asp501Val)
2g.26482528T>CCA346135650OTOFc.1457A>G (p.Asp486Gly)
c.1502A>G (p.Asp501Gly)
2g.26482528T>GCA346135651OTOFc.1457A>C (p.Asp486Ala)
c.1502A>C (p.Asp501Ala)
 dbSNP
2g.26482528T=CA1239829101OTOFc.1457A= (p.Asp486=)
c.1502A= (p.Asp501=)
2g.26482529C>ACA346135658OTOFc.1456G>T (p.Asp486Tyr)
c.1501G>T (p.Asp501Tyr)
 gnomAD v4
2g.26482529C>GCA346135653OTOFc.1456G>C (p.Asp486His)
c.1501G>C (p.Asp501His)
2g.26482529C>TCA346135655OTOFc.1456G>A (p.Asp486Asn)
c.1501G>A (p.Asp501Asn)
2g.26482530T>ACA425206660OTOFc.1455A>T (p.Thr485=)
c.1500A>T (p.Thr500=)
2g.26482530T>CCA425206663OTOFc.1455A>G (p.Thr485=)
c.1500A>G (p.Thr500=)
2g.26482530T>GCA425206662OTOFc.1455A>C (p.Thr485=)
c.1500A>C (p.Thr500=)
2g.26482531G>ACA346135661OTOFc.1454C>T (p.Thr485Ile)
c.1499C>T (p.Thr500Ile)
2g.26482531G>CCA346135663OTOFc.1454C>G (p.Thr485Arg)
c.1499C>G (p.Thr500Arg)
2g.26482531G>TCA346135664OTOFc.1454C>A (p.Thr485Lys)
c.1499C>A (p.Thr500Lys)
2g.26482532T>ACA346135666OTOFc.1453A>T (p.Thr485Ser)
c.1498A>T (p.Thr500Ser)
2g.26482532T>CCA346135668OTOFc.1453A>G (p.Thr485Ala)
c.1498A>G (p.Thr500Ala)
2g.26482532T>GCA346135670OTOFc.1453A>C (p.Thr485Pro)
c.1498A>C (p.Thr500Pro)
2g.26482533A>CCA346135672OTOFc.1452T>G (p.Phe484Leu)
c.1497T>G (p.Phe499Leu)
2g.26482533A>GCA425206667OTOFc.1452T>C (p.Phe484=)
c.1497T>C (p.Phe499=)
 ClinVar gnomAD v4
2g.26482533A>TCA346135674OTOFc.1452T>A (p.Phe484Leu)
c.1497T>A (p.Phe499Leu)
2g.26482534A>CCA346135678OTOFc.1451T>G (p.Phe484Cys)
c.1496T>G (p.Phe499Cys)
2g.26482534A>GCA346135680OTOFc.1451T>C (p.Phe484Ser)
c.1496T>C (p.Phe499Ser)
2g.26482534A>TCA346135682OTOFc.1451T>A (p.Phe484Tyr)
c.1496T>A (p.Phe499Tyr)
2g.26482535A>CCA346135686OTOFc.1450T>G (p.Phe484Val)
c.1495T>G (p.Phe499Val)
2g.26482535A>GCA346135688OTOFc.1450T>C (p.Phe484Leu)
c.1495T>C (p.Phe499Leu)
 gnomAD v4
2g.26482535A>TCA346135685OTOFc.1450T>A (p.Phe484Ile)
c.1495T>A (p.Phe499Ile)
2g.26482536G>ACA425206676OTOFc.1449C>T (p.Val483=)
c.1494C>T (p.Val498=)
2g.26482536G>CCA425206677OTOFc.1449C>G (p.Val483=)
c.1494C>G (p.Val498=)
2g.26482536G>TCA425206678OTOFc.1449C>A (p.Val483=)
c.1494C>A (p.Val498=)
2g.26482537A=CA1239829105OTOFc.1448T= (p.Val483=)
c.1493T= (p.Val498=)
2g.26482537A>CCA346135691OTOFc.1448T>G (p.Val483Gly)
c.1493T>G (p.Val498Gly)
2g.26482537A>GCA346135694OTOFc.1448T>C (p.Val483Ala)
c.1493T>C (p.Val498Ala)
 dbSNP
2g.26482537A>TCA346135696OTOFc.1448T>A (p.Val483Asp)
c.1493T>A (p.Val498Asp)
2g.26482538C>ACA346135698OTOFc.1447G>T (p.Val483Phe)
c.1492G>T (p.Val498Phe)
2g.26482538C=CA1239829108OTOFc.1447G= (p.Val483=)
c.1492G= (p.Val498=)
2g.26482538C>GCA346135701OTOFc.1447G>C (p.Val483Leu)
c.1492G>C (p.Val498Leu)
2g.26482538C>TCA1564265OTOFc.1447G>A (p.Val483Ile)
c.1492G>A (p.Val498Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482539G>ACA1564266OTOFc.1446C>T (p.Val482=)
c.1491C>T (p.Val497=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.26482539G>CCA425206683OTOFc.1446C>G (p.Val482=)
c.1491C>G (p.Val497=)
2g.26482539G=CA1239829111OTOFc.1446C= (p.Val482=)
c.1491C= (p.Val497=)
2g.26482539G>TCA425206684OTOFc.1446C>A (p.Val482=)
c.1491C>A (p.Val497=)
2g.26482540A>CCA346135710OTOFc.1445T>G (p.Val482Gly)
c.1490T>G (p.Val497Gly)
2g.26482540A>GCA346135713OTOFc.1445T>C (p.Val482Ala)
c.1490T>C (p.Val497Ala)
2g.26482540A>TCA346135715OTOFc.1445T>A (p.Val482Asp)
c.1490T>A (p.Val497Asp)
2g.26482541C>ACA346135719OTOFc.1444G>T (p.Val482Phe)
c.1489G>T (p.Val497Phe)
2g.26482541C>GCA346135721OTOFc.1444G>C (p.Val482Leu)
c.1489G>C (p.Val497Leu)
2g.26482541C>TCA346135723OTOFc.1444G>A (p.Val482Ile)
c.1489G>A (p.Val497Ile)
2g.26482542C>ACA346135730OTOFc.1443G>T (p.Gln481His)
c.1488G>T (p.Gln496His)
2g.26482542C>GCA346135727OTOFc.1443G>C (p.Gln481His)
c.1488G>C (p.Gln496His)
2g.26482542C>TCA425206692OTOFc.1443G>A (p.Gln481=)
c.1488G>A (p.Gln496=)
2g.26482543T>ACA346135732OTOFc.1442A>T (p.Gln481Leu)
c.1487A>T (p.Gln496Leu)
2g.26482543T>CCA346135734OTOFc.1442A>G (p.Gln481Arg)
c.1487A>G (p.Gln496Arg)
2g.26482543T>GCA346135736OTOFc.1442A>C (p.Gln481Pro)
c.1487A>C (p.Gln496Pro)
2g.26482544G>ACA346135739OTOFc.1441C>T (p.Gln481Ter)
c.1486C>T (p.Gln496Ter)
2g.26482544G>CCA346135741OTOFc.1441C>G (p.Gln481Glu)
c.1486C>G (p.Gln496Glu)
2g.26482544G>TCA346135743OTOFc.1441C>A (p.Gln481Lys)
c.1486C>A (p.Gln496Lys)
2g.26482545C>ACA346135744OTOFc.1440G>T (p.Glu480Asp)
c.1485G>T (p.Glu495Asp)
2g.26482545C>GCA346135745OTOFc.1440G>C (p.Glu480Asp)
c.1485G>C (p.Glu495Asp)
2g.26482545C>TCA425206699OTOFc.1440G>A (p.Glu480=)
c.1485G>A (p.Glu495=)
2g.26482546T>ACA346135748OTOFc.1439A>T (p.Glu480Val)
c.1484A>T (p.Glu495Val)
2g.26482546T>CCA346135750OTOFc.1439A>G (p.Glu480Gly)
c.1484A>G (p.Glu495Gly)
2g.26482546T>GCA346135752OTOFc.1439A>C (p.Glu480Ala)
c.1484A>C (p.Glu495Ala)
2g.26482547C>ACA346135757OTOFc.1438G>T (p.Glu480Ter)
c.1483G>T (p.Glu495Ter)
 gnomAD v4
2g.26482547C=CA1239829114OTOFc.1438G= (p.Glu480=)
c.1483G= (p.Glu495=)
2g.26482547C>GCA346135759OTOFc.1438G>C (p.Glu480Gln)
c.1483G>C (p.Glu495Gln)
2g.26482547C>TCA346135761OTOFc.1438G>A (p.Glu480Lys)
c.1483G>A (p.Glu495Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.26482549_26482555delCA2658238778OTOFc.1432_1438del (p.Trp478SerfsTer16)
c.1477_1483del (p.Trp493SerfsTer16)
 gnomAD v4
2g.26482548A=CA1239829117OTOFc.1437T= (p.Asn479=)
c.1482T= (p.Asn494=)
2g.26482548A>CCA346135767OTOFc.1437T>G (p.Asn479Lys)
c.1482T>G (p.Asn494Lys)
2g.26482548A>GCA1564267OTOFc.1437T>C (p.Asn479=)
c.1482T>C (p.Asn494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482548A>TCA346135765OTOFc.1437T>A (p.Asn479Lys)
c.1482T>A (p.Asn494Lys)
 dbSNP gnomAD v3 gnomAD v4
2g.26482549T>ACA346135775OTOFc.1436A>T (p.Asn479Ile)
c.1481A>T (p.Asn494Ile)
2g.26482549T>CCA346135773OTOFc.1436A>G (p.Asn479Ser)
c.1481A>G (p.Asn494Ser)
2g.26482549T>GCA346135777OTOFc.1436A>C (p.Asn479Thr)
c.1481A>C (p.Asn494Thr)
2g.26482550T>ACA346135785OTOFc.1435A>T (p.Asn479Tyr)
c.1480A>T (p.Asn494Tyr)
2g.26482550T>CCA346135790OTOFc.1435A>G (p.Asn479Asp)
c.1480A>G (p.Asn494Asp)
2g.26482550T>GCA346135788OTOFc.1435A>C (p.Asn479His)
c.1480A>C (p.Asn494His)
2g.26482551C>ACA346135793OTOFc.1434G>T (p.Trp478Cys)
c.1479G>T (p.Trp493Cys)
2g.26482551C>GCA346135795OTOFc.1434G>C (p.Trp478Cys)
c.1479G>C (p.Trp493Cys)
2g.26482551C>TCA346135794OTOFc.1434G>A (p.Trp478Ter)
c.1479G>A (p.Trp493Ter)
2g.26482552C>ACA346135796OTOFc.1433G>T (p.Trp478Leu)
c.1478G>T (p.Trp493Leu)
2g.26482552C>GCA346135798OTOFc.1433G>C (p.Trp478Ser)
c.1478G>C (p.Trp493Ser)
2g.26482552C>TCA346135797OTOFc.1433G>A (p.Trp478Ter)
c.1478G>A (p.Trp493Ter)
 ClinVar
2g.26482553A>CCA346135799OTOFc.1432T>G (p.Trp478Gly)
c.1477T>G (p.Trp493Gly)
2g.26482553A>GCA346135800OTOFc.1432T>C (p.Trp478Arg)
c.1477T>C (p.Trp493Arg)
 ClinVar
2g.26482553A>TCA346135801OTOFc.1432T>A (p.Trp478Arg)
c.1477T>A (p.Trp493Arg)
2g.26482554C>ACA425206711OTOFc.1431G>T (p.Leu477=)
c.1476G>T (p.Leu492=)
2g.26482554C=CA1239829122OTOFc.1431G= (p.Leu477=)
c.1476G= (p.Leu492=)
2g.26482554C>GCA425206712OTOFc.1431G>C (p.Leu477=)
c.1476G>C (p.Leu492=)
2g.26482554C>TCA44401609OTOFc.1431G>A (p.Leu477=)
c.1476G>A (p.Leu492=)
 dbSNP gnomAD v4
2g.26482555A>CCA346135802OTOFc.1430T>G (p.Leu477Arg)
c.1475T>G (p.Leu492Arg)
2g.26482555A>GCA346135803OTOFc.1430T>C (p.Leu477Pro)
c.1475T>C (p.Leu492Pro)
2g.26482555A>TCA346135804OTOFc.1430T>A (p.Leu477Gln)
c.1475T>A (p.Leu492Gln)
2g.26482556G>ACA425206714OTOFc.1429C>T (p.Leu477=)
c.1474C>T (p.Leu492=)
 COSMIC
2g.26482556G>CCA346135805OTOFc.1429C>G (p.Leu477Val)
c.1474C>G (p.Leu492Val)
2g.26482556G>TCA346135806OTOFc.1429C>A (p.Leu477Met)
c.1474C>A (p.Leu492Met)
2g.26482557G>ACA425206715OTOFc.1428C>T (p.Pro476=)
c.1473C>T (p.Pro491=)
 dbSNP
2g.26482557G>CCA425206716OTOFc.1428C>G (p.Pro476=)
c.1473C>G (p.Pro491=)
 ClinVar
2g.26482557G>TCA425206718OTOFc.1428C>A (p.Pro476=)
c.1473C>A (p.Pro491=)
2g.26482558G>ACA346135807OTOFc.1427C>T (p.Pro476Leu)
c.1472C>T (p.Pro491Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.26482558G>CCA346135809OTOFc.1427C>G (p.Pro476Arg)
c.1472C>G (p.Pro491Arg)
2g.26482558G=CA1239829125OTOFc.1427C= (p.Pro476=)
c.1472C= (p.Pro491=)
2g.26482558G>TCA346135815OTOFc.1427C>A (p.Pro476His)
c.1472C>A (p.Pro491His)
2g.26482559G>ACA1564268OTOFc.1426C>T (p.Pro476Ser)
c.1471C>T (p.Pro491Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.26482559G>CCA346135826OTOFc.1426C>G (p.Pro476Ala)
c.1471C>G (p.Pro491Ala)
2g.26482559G=CA1239829128OTOFc.1426C= (p.Pro476=)
c.1471C= (p.Pro491=)
2g.26482559G>TCA346135824OTOFc.1426C>A (p.Pro476Thr)
c.1471C>A (p.Pro491Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.26482560C>ACA346135830OTOFc.1425G>T (p.Glu475Asp)
c.1470G>T (p.Glu490Asp)
2g.26482560C=CA1239829132OTOFc.1425G= (p.Glu475=)
c.1470G= (p.Glu490=)
2g.26482560C>GCA1564270OTOFc.1425G>C (p.Glu475Asp)
c.1470G>C (p.Glu490Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482560C>TCA1564269OTOFc.1425G>A (p.Glu475=)
c.1470G>A (p.Glu490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.26482561T>ACA346135836OTOFc.1424A>T (p.Glu475Val)
c.1469A>T (p.Glu490Val)
2g.26482561T>CCA142738OTOFc.1424A>G (p.Glu475Gly)
c.1469A>G (p.Glu490Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26482561T>GCA346135840OTOFc.1424A>C (p.Glu475Ala)
c.1469A>C (p.Glu490Ala)
2g.26482561T=CA1239829138OTOFc.1424A= (p.Glu475=)
c.1469A= (p.Glu490=)
2g.26482562C>ACA346135841OTOFc.1423G>T (p.Glu475Ter)
c.1468G>T (p.Glu490Ter)
2g.26482562C>GCA346135842OTOFc.1423G>C (p.Glu475Gln)
c.1468G>C (p.Glu490Gln)
2g.26482562C>TCA346135843OTOFc.1423G>A (p.Glu475Lys)
c.1468G>A (p.Glu490Lys)
 gnomAD v4

Number of alleles fetched