Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36219894A=CA1846328577CLTA,GNEc.1853T= (p.Ile618=)
c.1583T= (p.Ile528=)
c.1760T= (p.Ile587=)
c.1538T= (p.Ile513=)
c.485+15715A= (n.485+15715A=)
c.1430T= (p.Ile477=)
c.1745T= (p.Ile582=)
c.1700T= (p.Ile567=)
c.1607T= (p.Ile536=)
9g.36219894A>CCA373425587CLTA,GNEc.1853T>G (p.Ile618Ser)
c.1583T>G (p.Ile528Ser)
c.1760T>G (p.Ile587Ser)
c.1538T>G (p.Ile513Ser)
c.485+15715A>C (n.485+15715A>C)
c.1430T>G (p.Ile477Ser)
c.1745T>G (p.Ile582Ser)
c.1700T>G (p.Ile567Ser)
c.1607T>G (p.Ile536Ser)
9g.36219894A>GCA274075CLTA,GNEc.1853T>C (p.Ile618Thr)
c.1583T>C (p.Ile528Thr)
c.1760T>C (p.Ile587Thr)
c.1538T>C (p.Ile513Thr)
c.485+15715A>G (n.485+15715A>G)
c.1430T>C (p.Ile477Thr)
c.1745T>C (p.Ile582Thr)
c.1700T>C (p.Ile567Thr)
c.1607T>C (p.Ile536Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219894A>TCA373425588CLTA,GNEc.1853T>A (p.Ile618Asn)
c.1583T>A (p.Ile528Asn)
c.1760T>A (p.Ile587Asn)
c.1538T>A (p.Ile513Asn)
c.485+15715A>T (n.485+15715A>T)
c.1430T>A (p.Ile477Asn)
c.1745T>A (p.Ile582Asn)
c.1700T>A (p.Ile567Asn)
c.1607T>A (p.Ile536Asn)
9g.36219895T>ACA373425590CLTA,GNEc.1852A>T (p.Ile618Phe)
c.1582A>T (p.Ile528Phe)
c.1759A>T (p.Ile587Phe)
c.1537A>T (p.Ile513Phe)
c.485+15716T>A (n.485+15716T>A)
c.1429A>T (p.Ile477Phe)
c.1744A>T (p.Ile582Phe)
c.1699A>T (p.Ile567Phe)
c.1606A>T (p.Ile536Phe)
9g.36219895T>CCA373425591CLTA,GNEc.1852A>G (p.Ile618Val)
c.1582A>G (p.Ile528Val)
c.1759A>G (p.Ile587Val)
c.1537A>G (p.Ile513Val)
c.485+15716T>C (n.485+15716T>C)
c.1429A>G (p.Ile477Val)
c.1744A>G (p.Ile582Val)
c.1699A>G (p.Ile567Val)
c.1606A>G (p.Ile536Val)
 ClinVar
9g.36219895T>GCA373425589CLTA,GNEc.1852A>C (p.Ile618Leu)
c.1582A>C (p.Ile528Leu)
c.1759A>C (p.Ile587Leu)
c.1537A>C (p.Ile513Leu)
c.485+15716T>G (n.485+15716T>G)
c.1429A>C (p.Ile477Leu)
c.1744A>C (p.Ile582Leu)
c.1699A>C (p.Ile567Leu)
c.1606A>C (p.Ile536Leu)
9g.36219896G>ACA464494958CLTA,GNEc.1851C>T (p.Cys617=)
c.1581C>T (p.Cys527=)
c.1758C>T (p.Cys586=)
c.1536C>T (p.Cys512=)
c.485+15717G>A (n.485+15717G>A)
c.1428C>T (p.Cys476=)
c.1743C>T (p.Cys581=)
c.1698C>T (p.Cys566=)
c.1605C>T (p.Cys535=)
9g.36219896G>CCA373425593CLTA,GNEc.1851C>G (p.Cys617Trp)
c.1581C>G (p.Cys527Trp)
c.1758C>G (p.Cys586Trp)
c.1536C>G (p.Cys512Trp)
c.485+15717G>C (n.485+15717G>C)
c.1428C>G (p.Cys476Trp)
c.1743C>G (p.Cys581Trp)
c.1698C>G (p.Cys566Trp)
c.1605C>G (p.Cys535Trp)
9g.36219896G>TCA373425592CLTA,GNEc.1851C>A (p.Cys617Ter)
c.1581C>A (p.Cys527Ter)
c.1758C>A (p.Cys586Ter)
c.1536C>A (p.Cys512Ter)
c.485+15717G>T (n.485+15717G>T)
c.1428C>A (p.Cys476Ter)
c.1743C>A (p.Cys581Ter)
c.1698C>A (p.Cys566Ter)
c.1605C>A (p.Cys535Ter)
9g.36219897C>ACA373425594CLTA,GNEc.1850G>T (p.Cys617Phe)
c.1580G>T (p.Cys527Phe)
c.1757G>T (p.Cys586Phe)
c.1535G>T (p.Cys512Phe)
c.485+15718C>A (n.485+15718C>A)
c.1427G>T (p.Cys476Phe)
c.1742G>T (p.Cys581Phe)
c.1697G>T (p.Cys566Phe)
c.1604G>T (p.Cys535Phe)
9g.36219897C>GCA373425595CLTA,GNEc.1850G>C (p.Cys617Ser)
c.1580G>C (p.Cys527Ser)
c.1757G>C (p.Cys586Ser)
c.1535G>C (p.Cys512Ser)
c.485+15718C>G (n.485+15718C>G)
c.1427G>C (p.Cys476Ser)
c.1742G>C (p.Cys581Ser)
c.1697G>C (p.Cys566Ser)
c.1604G>C (p.Cys535Ser)
9g.36219897C>TCA373425596CLTA,GNEc.1850G>A (p.Cys617Tyr)
c.1580G>A (p.Cys527Tyr)
c.1757G>A (p.Cys586Tyr)
c.1535G>A (p.Cys512Tyr)
c.485+15718C>T (n.485+15718C>T)
c.1427G>A (p.Cys476Tyr)
c.1742G>A (p.Cys581Tyr)
c.1697G>A (p.Cys566Tyr)
c.1604G>A (p.Cys535Tyr)
 gnomAD v4
9g.36219898A>CCA373425597CLTA,GNEc.1849T>G (p.Cys617Gly)
c.1579T>G (p.Cys527Gly)
c.1756T>G (p.Cys586Gly)
c.1534T>G (p.Cys512Gly)
c.485+15719A>C (n.485+15719A>C)
c.1426T>G (p.Cys476Gly)
c.1741T>G (p.Cys581Gly)
c.1696T>G (p.Cys566Gly)
c.1603T>G (p.Cys535Gly)
9g.36219898A>GCA373425598CLTA,GNEc.1849T>C (p.Cys617Arg)
c.1579T>C (p.Cys527Arg)
c.1756T>C (p.Cys586Arg)
c.1534T>C (p.Cys512Arg)
c.485+15719A>G (n.485+15719A>G)
c.1426T>C (p.Cys476Arg)
c.1741T>C (p.Cys581Arg)
c.1696T>C (p.Cys566Arg)
c.1603T>C (p.Cys535Arg)
9g.36219898A>TCA373425599CLTA,GNEc.1849T>A (p.Cys617Ser)
c.1579T>A (p.Cys527Ser)
c.1756T>A (p.Cys586Ser)
c.1534T>A (p.Cys512Ser)
c.485+15719A>T (n.485+15719A>T)
c.1426T>A (p.Cys476Ser)
c.1741T>A (p.Cys581Ser)
c.1696T>A (p.Cys566Ser)
c.1603T>A (p.Cys535Ser)
9g.36219899C>ACA464494959CLTA,GNEc.1848G>T (p.Gly616=)
c.1578G>T (p.Gly526=)
c.1755G>T (p.Gly585=)
c.1533G>T (p.Gly511=)
c.485+15720C>A (n.485+15720C>A)
c.1425G>T (p.Gly475=)
c.1740G>T (p.Gly580=)
c.1695G>T (p.Gly565=)
c.1602G>T (p.Gly534=)
9g.36219899C=CA1846328584CLTA,GNEc.1848G= (p.Gly616=)
c.1578G= (p.Gly526=)
c.1755G= (p.Gly585=)
c.1533G= (p.Gly511=)
c.485+15720C= (n.485+15720C=)
c.1425G= (p.Gly475=)
c.1740G= (p.Gly580=)
c.1695G= (p.Gly565=)
c.1602G= (p.Gly534=)
9g.36219899C>GCA464494960CLTA,GNEc.1848G>C (p.Gly616=)
c.1578G>C (p.Gly526=)
c.1755G>C (p.Gly585=)
c.1533G>C (p.Gly511=)
c.485+15720C>G (n.485+15720C>G)
c.1425G>C (p.Gly475=)
c.1740G>C (p.Gly580=)
c.1695G>C (p.Gly565=)
c.1602G>C (p.Gly534=)
 ClinVar dbSNP gnomAD v4
9g.36219899C>TCA464494961CLTA,GNEc.1848G>A (p.Gly616=)
c.1578G>A (p.Gly526=)
c.1755G>A (p.Gly585=)
c.1533G>A (p.Gly511=)
c.485+15720C>T (n.485+15720C>T)
c.1425G>A (p.Gly475=)
c.1740G>A (p.Gly580=)
c.1695G>A (p.Gly565=)
c.1602G>A (p.Gly534=)
 dbSNP
9g.36219901delCA2695206253CLTA,GNEc.1848del (p.Cys617AlafsTer?)
c.1578del (p.Cys527AlafsTer?)
c.1755del (p.Cys586AlafsTer?)
c.1533del (p.Cys512AlafsTer?)
c.485+15722del (n.485+15722del)
c.1425del (p.Cys476AlafsTer?)
c.1740del (p.Cys581AlafsTer?)
c.1695del (p.Cys566AlafsTer?)
c.1602del (p.Cys535AlafsTer?)
9g.36219900C>ACA373425602CLTA,GNEc.1847G>T (p.Gly616Val)
c.1577G>T (p.Gly526Val)
c.1754G>T (p.Gly585Val)
c.1532G>T (p.Gly511Val)
c.485+15721C>A (n.485+15721C>A)
c.1424G>T (p.Gly475Val)
c.1739G>T (p.Gly580Val)
c.1694G>T (p.Gly565Val)
c.1601G>T (p.Gly534Val)
9g.36219900C>GCA373425600CLTA,GNEc.1847G>C (p.Gly616Ala)
c.1577G>C (p.Gly526Ala)
c.1754G>C (p.Gly585Ala)
c.1532G>C (p.Gly511Ala)
c.485+15721C>G (n.485+15721C>G)
c.1424G>C (p.Gly475Ala)
c.1739G>C (p.Gly580Ala)
c.1694G>C (p.Gly565Ala)
c.1601G>C (p.Gly534Ala)
9g.36219900C>TCA373425601CLTA,GNEc.1847G>A (p.Gly616Glu)
c.1577G>A (p.Gly526Glu)
c.1754G>A (p.Gly585Glu)
c.1532G>A (p.Gly511Glu)
c.485+15721C>T (n.485+15721C>T)
c.1424G>A (p.Gly475Glu)
c.1739G>A (p.Gly580Glu)
c.1694G>A (p.Gly565Glu)
c.1601G>A (p.Gly534Glu)
9g.36219901C>ACA373425603CLTA,GNEc.1846G>T (p.Gly616Trp)
c.1576G>T (p.Gly526Trp)
c.1753G>T (p.Gly585Trp)
c.1531G>T (p.Gly511Trp)
c.485+15722C>A (n.485+15722C>A)
c.1423G>T (p.Gly475Trp)
c.1738G>T (p.Gly580Trp)
c.1693G>T (p.Gly565Trp)
c.1600G>T (p.Gly534Trp)
9g.36219901C>GCA373425604CLTA,GNEc.1846G>C (p.Gly616Arg)
c.1576G>C (p.Gly526Arg)
c.1753G>C (p.Gly585Arg)
c.1531G>C (p.Gly511Arg)
c.485+15722C>G (n.485+15722C>G)
c.1423G>C (p.Gly475Arg)
c.1738G>C (p.Gly580Arg)
c.1693G>C (p.Gly565Arg)
c.1600G>C (p.Gly534Arg)
9g.36219901C>TCA373425605CLTA,GNEc.1846G>A (p.Gly616Arg)
c.1576G>A (p.Gly526Arg)
c.1753G>A (p.Gly585Arg)
c.1531G>A (p.Gly511Arg)
c.485+15722C>T (n.485+15722C>T)
c.1423G>A (p.Gly475Arg)
c.1738G>A (p.Gly580Arg)
c.1693G>A (p.Gly565Arg)
c.1600G>A (p.Gly534Arg)
9g.36219902A=CA1846328585CLTA,GNEc.1845T= (p.His615=)
c.1575T= (p.His525=)
c.1752T= (p.His584=)
c.1530T= (p.His510=)
c.485+15723A= (n.485+15723A=)
c.1422T= (p.His474=)
c.1737T= (p.His579=)
c.1692T= (p.His564=)
c.1599T= (p.His533=)
9g.36219902A>CCA373425606CLTA,GNEc.1845T>G (p.His615Gln)
c.1575T>G (p.His525Gln)
c.1752T>G (p.His584Gln)
c.1530T>G (p.His510Gln)
c.485+15723A>C (n.485+15723A>C)
c.1422T>G (p.His474Gln)
c.1737T>G (p.His579Gln)
c.1692T>G (p.His564Gln)
c.1599T>G (p.His533Gln)
9g.36219902A>GCA464494962CLTA,GNEc.1845T>C (p.His615=)
c.1575T>C (p.His525=)
c.1752T>C (p.His584=)
c.1530T>C (p.His510=)
c.485+15723A>G (n.485+15723A>G)
c.1422T>C (p.His474=)
c.1737T>C (p.His579=)
c.1692T>C (p.His564=)
c.1599T>C (p.His533=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36219902A>TCA373425607CLTA,GNEc.1845T>A (p.His615Gln)
c.1575T>A (p.His525Gln)
c.1752T>A (p.His584Gln)
c.1530T>A (p.His510Gln)
c.485+15723A>T (n.485+15723A>T)
c.1422T>A (p.His474Gln)
c.1737T>A (p.His579Gln)
c.1692T>A (p.His564Gln)
c.1599T>A (p.His533Gln)
9g.36219903T>ACA373425608CLTA,GNEc.1844A>T (p.His615Leu)
c.1574A>T (p.His525Leu)
c.1751A>T (p.His584Leu)
c.1529A>T (p.His510Leu)
c.485+15724T>A (n.485+15724T>A)
c.1421A>T (p.His474Leu)
c.1736A>T (p.His579Leu)
c.1691A>T (p.His564Leu)
c.1598A>T (p.His533Leu)
9g.36219903T>CCA373425610CLTA,GNEc.1844A>G (p.His615Arg)
c.1574A>G (p.His525Arg)
c.1751A>G (p.His584Arg)
c.1529A>G (p.His510Arg)
c.485+15724T>C (n.485+15724T>C)
c.1421A>G (p.His474Arg)
c.1736A>G (p.His579Arg)
c.1691A>G (p.His564Arg)
c.1598A>G (p.His533Arg)
9g.36219903T>GCA373425609CLTA,GNEc.1844A>C (p.His615Pro)
c.1574A>C (p.His525Pro)
c.1751A>C (p.His584Pro)
c.1529A>C (p.His510Pro)
c.485+15724T>G (n.485+15724T>G)
c.1421A>C (p.His474Pro)
c.1736A>C (p.His579Pro)
c.1691A>C (p.His564Pro)
c.1598A>C (p.His533Pro)
9g.36219904G>ACA373425611CLTA,GNEc.1843C>T (p.His615Tyr)
c.1573C>T (p.His525Tyr)
c.1750C>T (p.His584Tyr)
c.1528C>T (p.His510Tyr)
c.485+15725G>A (n.485+15725G>A)
c.1420C>T (p.His474Tyr)
c.1735C>T (p.His579Tyr)
c.1690C>T (p.His564Tyr)
c.1597C>T (p.His533Tyr)
 dbSNP gnomAD v2 gnomAD v4
9g.36219904G>CCA373425612CLTA,GNEc.1843C>G (p.His615Asp)
c.1573C>G (p.His525Asp)
c.1750C>G (p.His584Asp)
c.1528C>G (p.His510Asp)
c.485+15725G>C (n.485+15725G>C)
c.1420C>G (p.His474Asp)
c.1735C>G (p.His579Asp)
c.1690C>G (p.His564Asp)
c.1597C>G (p.His533Asp)
9g.36219904G=CA1846328589CLTA,GNEc.1843C= (p.His615=)
c.1573C= (p.His525=)
c.1750C= (p.His584=)
c.1528C= (p.His510=)
c.485+15725G= (n.485+15725G=)
c.1420C= (p.His474=)
c.1735C= (p.His579=)
c.1690C= (p.His564=)
c.1597C= (p.His533=)
9g.36219904G>TCA373425613CLTA,GNEc.1843C>A (p.His615Asn)
c.1573C>A (p.His525Asn)
c.1750C>A (p.His584Asn)
c.1528C>A (p.His510Asn)
c.485+15725G>T (n.485+15725G>T)
c.1420C>A (p.His474Asn)
c.1735C>A (p.His579Asn)
c.1690C>A (p.His564Asn)
c.1597C>A (p.His533Asn)
 gnomAD v4
9g.36219905G>ACA464494963CLTA,GNEc.1842C>T (p.Ser614=)
c.1572C>T (p.Ser524=)
c.1749C>T (p.Ser583=)
c.1527C>T (p.Ser509=)
c.485+15726G>A (n.485+15726G>A)
c.1419C>T (p.Ser473=)
c.1734C>T (p.Ser578=)
c.1689C>T (p.Ser563=)
c.1596C>T (p.Ser532=)
 ClinVar
9g.36219905G>CCA373425614CLTA,GNEc.1842C>G (p.Ser614Arg)
c.1572C>G (p.Ser524Arg)
c.1749C>G (p.Ser583Arg)
c.1527C>G (p.Ser509Arg)
c.485+15726G>C (n.485+15726G>C)
c.1419C>G (p.Ser473Arg)
c.1734C>G (p.Ser578Arg)
c.1689C>G (p.Ser563Arg)
c.1596C>G (p.Ser532Arg)
9g.36219905G>TCA373425615CLTA,GNEc.1842C>A (p.Ser614Arg)
c.1572C>A (p.Ser524Arg)
c.1749C>A (p.Ser583Arg)
c.1527C>A (p.Ser509Arg)
c.485+15726G>T (n.485+15726G>T)
c.1419C>A (p.Ser473Arg)
c.1734C>A (p.Ser578Arg)
c.1689C>A (p.Ser563Arg)
c.1596C>A (p.Ser532Arg)
9g.36219906C>ACA373425616CLTA,GNEc.1841G>T (p.Ser614Ile)
c.1571G>T (p.Ser524Ile)
c.1748G>T (p.Ser583Ile)
c.1526G>T (p.Ser509Ile)
c.485+15727C>A (n.485+15727C>A)
c.1418G>T (p.Ser473Ile)
c.1733G>T (p.Ser578Ile)
c.1688G>T (p.Ser563Ile)
c.1595G>T (p.Ser532Ile)
9g.36219906C=CA1846328591CLTA,GNEc.1841G= (p.Ser614=)
c.1571G= (p.Ser524=)
c.1748G= (p.Ser583=)
c.1526G= (p.Ser509=)
c.485+15727C= (n.485+15727C=)
c.1418G= (p.Ser473=)
c.1733G= (p.Ser578=)
c.1688G= (p.Ser563=)
c.1595G= (p.Ser532=)
9g.36219906C>GCA373425617CLTA,GNEc.1841G>C (p.Ser614Thr)
c.1571G>C (p.Ser524Thr)
c.1748G>C (p.Ser583Thr)
c.1526G>C (p.Ser509Thr)
c.485+15727C>G (n.485+15727C>G)
c.1418G>C (p.Ser473Thr)
c.1733G>C (p.Ser578Thr)
c.1688G>C (p.Ser563Thr)
c.1595G>C (p.Ser532Thr)
 gnomAD v4
9g.36219906C>TCA373425618CLTA,GNEc.1841G>A (p.Ser614Asn)
c.1571G>A (p.Ser524Asn)
c.1748G>A (p.Ser583Asn)
c.1526G>A (p.Ser509Asn)
c.485+15727C>T (n.485+15727C>T)
c.1418G>A (p.Ser473Asn)
c.1733G>A (p.Ser578Asn)
c.1688G>A (p.Ser563Asn)
c.1595G>A (p.Ser532Asn)
 dbSNP gnomAD v4
9g.36219906dupCA2695206254CLTA,GNEc.1841dup (p.Ser614ArgfsTer6)
c.1571dup (p.Ser524ArgfsTer6)
c.1748dup (p.Ser583ArgfsTer6)
c.1526dup (p.Ser509ArgfsTer6)
c.485+15727dup (n.485+15727dup)
c.1418dup (p.Ser473ArgfsTer6)
c.1733dup (p.Ser578ArgfsTer6)
c.1688dup (p.Ser563ArgfsTer6)
c.1595dup (p.Ser532ArgfsTer6)
9g.36219907T>ACA373425619CLTA,GNEc.1840A>T (p.Ser614Cys)
c.1570A>T (p.Ser524Cys)
c.1747A>T (p.Ser583Cys)
c.1525A>T (p.Ser509Cys)
c.485+15728T>A (n.485+15728T>A)
c.1417A>T (p.Ser473Cys)
c.1732A>T (p.Ser578Cys)
c.1687A>T (p.Ser563Cys)
c.1594A>T (p.Ser532Cys)
 gnomAD v4
9g.36219907T>CCA373425620CLTA,GNEc.1840A>G (p.Ser614Gly)
c.1570A>G (p.Ser524Gly)
c.1747A>G (p.Ser583Gly)
c.1525A>G (p.Ser509Gly)
c.485+15728T>C (n.485+15728T>C)
c.1417A>G (p.Ser473Gly)
c.1732A>G (p.Ser578Gly)
c.1687A>G (p.Ser563Gly)
c.1594A>G (p.Ser532Gly)
9g.36219907T>GCA373425621CLTA,GNEc.1840A>C (p.Ser614Arg)
c.1570A>C (p.Ser524Arg)
c.1747A>C (p.Ser583Arg)
c.1525A>C (p.Ser509Arg)
c.485+15728T>G (n.485+15728T>G)
c.1417A>C (p.Ser473Arg)
c.1732A>C (p.Ser578Arg)
c.1687A>C (p.Ser563Arg)
c.1594A>C (p.Ser532Arg)
9g.36219908T>ACA464494966CLTA,GNEc.1839A>T (p.Gly613=)
c.1569A>T (p.Gly523=)
c.1746A>T (p.Gly582=)
c.1524A>T (p.Gly508=)
c.485+15729T>A (n.485+15729T>A)
c.1416A>T (p.Gly472=)
c.1731A>T (p.Gly577=)
c.1686A>T (p.Gly562=)
c.1593A>T (p.Gly531=)
9g.36219908T>CCA464494965CLTA,GNEc.1839A>G (p.Gly613=)
c.1569A>G (p.Gly523=)
c.1746A>G (p.Gly582=)
c.1524A>G (p.Gly508=)
c.485+15729T>C (n.485+15729T>C)
c.1416A>G (p.Gly472=)
c.1731A>G (p.Gly577=)
c.1686A>G (p.Gly562=)
c.1593A>G (p.Gly531=)
 COSMIC COSMIC COSMIC
9g.36219908T>GCA464494964CLTA,GNEc.1839A>C (p.Gly613=)
c.1569A>C (p.Gly523=)
c.1746A>C (p.Gly582=)
c.1524A>C (p.Gly508=)
c.485+15729T>G (n.485+15729T>G)
c.1416A>C (p.Gly472=)
c.1731A>C (p.Gly577=)
c.1686A>C (p.Gly562=)
c.1593A>C (p.Gly531=)
9g.36219909C>ACA373425624CLTA,GNEc.1838G>T (p.Gly613Val)
c.1568G>T (p.Gly523Val)
c.1745G>T (p.Gly582Val)
c.1523G>T (p.Gly508Val)
c.485+15730C>A (n.485+15730C>A)
c.1415G>T (p.Gly472Val)
c.1730G>T (p.Gly577Val)
c.1685G>T (p.Gly562Val)
c.1592G>T (p.Gly531Val)
9g.36219909C>GCA373425623CLTA,GNEc.1838G>C (p.Gly613Ala)
c.1568G>C (p.Gly523Ala)
c.1745G>C (p.Gly582Ala)
c.1523G>C (p.Gly508Ala)
c.485+15730C>G (n.485+15730C>G)
c.1415G>C (p.Gly472Ala)
c.1730G>C (p.Gly577Ala)
c.1685G>C (p.Gly562Ala)
c.1592G>C (p.Gly531Ala)
9g.36219909C>TCA373425622CLTA,GNEc.1838G>A (p.Gly613Glu)
c.1568G>A (p.Gly523Glu)
c.1745G>A (p.Gly582Glu)
c.1523G>A (p.Gly508Glu)
c.485+15730C>T (n.485+15730C>T)
c.1415G>A (p.Gly472Glu)
c.1730G>A (p.Gly577Glu)
c.1685G>A (p.Gly562Glu)
c.1592G>A (p.Gly531Glu)
9g.36219910C>ACA373425625CLTA,GNEc.1837G>T (p.Gly613Ter)
c.1567G>T (p.Gly523Ter)
c.1744G>T (p.Gly582Ter)
c.1522G>T (p.Gly508Ter)
c.485+15731C>A (n.485+15731C>A)
c.1414G>T (p.Gly472Ter)
c.1729G>T (p.Gly577Ter)
c.1684G>T (p.Gly562Ter)
c.1591G>T (p.Gly531Ter)
9g.36219910C>GCA373425627CLTA,GNEc.1837G>C (p.Gly613Arg)
c.1567G>C (p.Gly523Arg)
c.1744G>C (p.Gly582Arg)
c.1522G>C (p.Gly508Arg)
c.485+15731C>G (n.485+15731C>G)
c.1414G>C (p.Gly472Arg)
c.1729G>C (p.Gly577Arg)
c.1684G>C (p.Gly562Arg)
c.1591G>C (p.Gly531Arg)
9g.36219910C>TCA373425626CLTA,GNEc.1837G>A (p.Gly613Arg)
c.1567G>A (p.Gly523Arg)
c.1744G>A (p.Gly582Arg)
c.1522G>A (p.Gly508Arg)
c.485+15731C>T (n.485+15731C>T)
c.1414G>A (p.Gly472Arg)
c.1729G>A (p.Gly577Arg)
c.1684G>A (p.Gly562Arg)
c.1591G>A (p.Gly531Arg)
9g.36219911A>CCA373425628CLTA,GNEc.1836T>G (p.Cys612Trp)
c.1566T>G (p.Cys522Trp)
c.1743T>G (p.Cys581Trp)
c.1521T>G (p.Cys507Trp)
c.485+15732A>C (n.485+15732A>C)
c.1413T>G (p.Cys471Trp)
c.1728T>G (p.Cys576Trp)
c.1683T>G (p.Cys561Trp)
c.1590T>G (p.Cys530Trp)
9g.36219911A>GCA464494967CLTA,GNEc.1836T>C (p.Cys612=)
c.1566T>C (p.Cys522=)
c.1743T>C (p.Cys581=)
c.1521T>C (p.Cys507=)
c.485+15732A>G (n.485+15732A>G)
c.1413T>C (p.Cys471=)
c.1728T>C (p.Cys576=)
c.1683T>C (p.Cys561=)
c.1590T>C (p.Cys530=)
9g.36219911A>TCA373425629CLTA,GNEc.1836T>A (p.Cys612Ter)
c.1566T>A (p.Cys522Ter)
c.1743T>A (p.Cys581Ter)
c.1521T>A (p.Cys507Ter)
c.485+15732A>T (n.485+15732A>T)
c.1413T>A (p.Cys471Ter)
c.1728T>A (p.Cys576Ter)
c.1683T>A (p.Cys561Ter)
c.1590T>A (p.Cys530Ter)
9g.36219912C>ACA5056431CLTA,GNEc.1835G>T (p.Cys612Phe)
c.1565G>T (p.Cys522Phe)
c.1742G>T (p.Cys581Phe)
c.1520G>T (p.Cys507Phe)
c.485+15733C>A (n.485+15733C>A)
c.1412G>T (p.Cys471Phe)
c.1727G>T (p.Cys576Phe)
c.1682G>T (p.Cys561Phe)
c.1589G>T (p.Cys530Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219912C=CA1846328602CLTA,GNEc.1835G= (p.Cys612=)
c.1565G= (p.Cys522=)
c.1742G= (p.Cys581=)
c.1520G= (p.Cys507=)
c.485+15733C= (n.485+15733C=)
c.1412G= (p.Cys471=)
c.1727G= (p.Cys576=)
c.1682G= (p.Cys561=)
c.1589G= (p.Cys530=)
9g.36219912C>GCA373425630CLTA,GNEc.1835G>C (p.Cys612Ser)
c.1565G>C (p.Cys522Ser)
c.1742G>C (p.Cys581Ser)
c.1520G>C (p.Cys507Ser)
c.485+15733C>G (n.485+15733C>G)
c.1412G>C (p.Cys471Ser)
c.1727G>C (p.Cys576Ser)
c.1682G>C (p.Cys561Ser)
c.1589G>C (p.Cys530Ser)
9g.36219912C>TCA373425631CLTA,GNEc.1835G>A (p.Cys612Tyr)
c.1565G>A (p.Cys522Tyr)
c.1742G>A (p.Cys581Tyr)
c.1520G>A (p.Cys507Tyr)
c.485+15733C>T (n.485+15733C>T)
c.1412G>A (p.Cys471Tyr)
c.1727G>A (p.Cys576Tyr)
c.1682G>A (p.Cys561Tyr)
c.1589G>A (p.Cys530Tyr)
9g.36219913A>CCA373425632CLTA,GNEc.1834T>G (p.Cys612Gly)
c.1564T>G (p.Cys522Gly)
c.1741T>G (p.Cys581Gly)
c.1519T>G (p.Cys507Gly)
c.485+15734A>C (n.485+15734A>C)
c.1411T>G (p.Cys471Gly)
c.1726T>G (p.Cys576Gly)
c.1681T>G (p.Cys561Gly)
c.1588T>G (p.Cys530Gly)
9g.36219913A>GCA373425633CLTA,GNEc.1834T>C (p.Cys612Arg)
c.1564T>C (p.Cys522Arg)
c.1741T>C (p.Cys581Arg)
c.1519T>C (p.Cys507Arg)
c.485+15734A>G (n.485+15734A>G)
c.1411T>C (p.Cys471Arg)
c.1726T>C (p.Cys576Arg)
c.1681T>C (p.Cys561Arg)
c.1588T>C (p.Cys530Arg)
9g.36219913A>TCA373425634CLTA,GNEc.1834T>A (p.Cys612Ser)
c.1564T>A (p.Cys522Ser)
c.1741T>A (p.Cys581Ser)
c.1519T>A (p.Cys507Ser)
c.485+15734A>T (n.485+15734A>T)
c.1411T>A (p.Cys471Ser)
c.1726T>A (p.Cys576Ser)
c.1681T>A (p.Cys561Ser)
c.1588T>A (p.Cys530Ser)
9g.36219913_36219914delCA913157662CLTA,GNEc.1833_1834del (p.Cys612TrpfsTer7)
c.1563_1564del (p.Cys522TrpfsTer7)
c.1740_1741del (p.Cys581TrpfsTer7)
c.1518_1519del (p.Cys507TrpfsTer7)
c.485+15734_485+15735del (n.485+15734_485+15735del)
c.1410_1411del (p.Cys471TrpfsTer7)
c.1725_1726del (p.Cys576TrpfsTer7)
c.1680_1681del (p.Cys561TrpfsTer7)
c.1587_1588del (p.Cys530TrpfsTer7)
9g.36219913_36219914delinsAGCA1846328609CLTA,GNEc.1833_1834delinsCT (p.Ser611=)
c.1563_1564delinsCT (p.Ser521=)
c.1740_1741delinsCT (p.Ser580=)
c.1518_1519delinsCT (p.Ser506=)
c.485+15734_485+15735delinsAG (n.485+15734_485+15735delinsAG)
c.1410_1411delinsCT (p.Ser470=)
c.1725_1726delinsCT (p.Ser575=)
c.1680_1681delinsCT (p.Ser560=)
c.1587_1588delinsCT (p.Ser529=)
9g.36219914G>ACA464494968CLTA,GNEc.1833C>T (p.Ser611=)
c.1563C>T (p.Ser521=)
c.1740C>T (p.Ser580=)
c.1518C>T (p.Ser506=)
c.485+15735G>A (n.485+15735G>A)
c.1410C>T (p.Ser470=)
c.1725C>T (p.Ser575=)
c.1680C>T (p.Ser560=)
c.1587C>T (p.Ser529=)
9g.36219914G>CCA464494969CLTA,GNEc.1833C>G (p.Ser611=)
c.1563C>G (p.Ser521=)
c.1740C>G (p.Ser580=)
c.1518C>G (p.Ser506=)
c.485+15735G>C (n.485+15735G>C)
c.1410C>G (p.Ser470=)
c.1725C>G (p.Ser575=)
c.1680C>G (p.Ser560=)
c.1587C>G (p.Ser529=)
9g.36219914G>TCA464494970CLTA,GNEc.1833C>A (p.Ser611=)
c.1563C>A (p.Ser521=)
c.1740C>A (p.Ser580=)
c.1518C>A (p.Ser506=)
c.485+15735G>T (n.485+15735G>T)
c.1410C>A (p.Ser470=)
c.1725C>A (p.Ser575=)
c.1680C>A (p.Ser560=)
c.1587C>A (p.Ser529=)
9g.36219915delCA658822294CLTA,GNEc.1833del (p.Cys612ValfsTer?)
c.1563del (p.Cys522ValfsTer?)
c.1740del (p.Cys581ValfsTer?)
c.1518del (p.Cys507ValfsTer?)
c.485+15736del (n.485+15736del)
c.1410del (p.Cys471ValfsTer?)
c.1725del (p.Cys576ValfsTer?)
c.1680del (p.Cys561ValfsTer?)
c.1587del (p.Cys530ValfsTer?)
 ClinVar dbSNP
9g.36219915G>ACA373425635CLTA,GNEc.1832C>T (p.Ser611Phe)
c.1562C>T (p.Ser521Phe)
c.1739C>T (p.Ser580Phe)
c.1517C>T (p.Ser506Phe)
c.485+15736G>A (n.485+15736G>A)
c.1409C>T (p.Ser470Phe)
c.1724C>T (p.Ser575Phe)
c.1679C>T (p.Ser560Phe)
c.1586C>T (p.Ser529Phe)
9g.36219915G>CCA373425636CLTA,GNEc.1832C>G (p.Ser611Cys)
c.1562C>G (p.Ser521Cys)
c.1739C>G (p.Ser580Cys)
c.1517C>G (p.Ser506Cys)
c.485+15736G>C (n.485+15736G>C)
c.1409C>G (p.Ser470Cys)
c.1724C>G (p.Ser575Cys)
c.1679C>G (p.Ser560Cys)
c.1586C>G (p.Ser529Cys)
9g.36219915G>TCA373425637CLTA,GNEc.1832C>A (p.Ser611Tyr)
c.1562C>A (p.Ser521Tyr)
c.1739C>A (p.Ser580Tyr)
c.1517C>A (p.Ser506Tyr)
c.485+15736G>T (n.485+15736G>T)
c.1409C>A (p.Ser470Tyr)
c.1724C>A (p.Ser575Tyr)
c.1679C>A (p.Ser560Tyr)
c.1586C>A (p.Ser529Tyr)
9g.36219915_36219916delinsGACA1846328624CLTA,GNEc.1831_1832delinsTC (p.Ser611=)
c.1561_1562delinsTC (p.Ser521=)
c.1738_1739delinsTC (p.Ser580=)
c.1516_1517delinsTC (p.Ser506=)
c.485+15736_485+15737delinsGA (n.485+15736_485+15737delinsGA)
c.1408_1409delinsTC (p.Ser470=)
c.1723_1724delinsTC (p.Ser575=)
c.1678_1679delinsTC (p.Ser560=)
c.1585_1586delinsTC (p.Ser529=)
9g.36219916A>CCA373425640CLTA,GNEc.1831T>G (p.Ser611Ala)
c.1561T>G (p.Ser521Ala)
c.1738T>G (p.Ser580Ala)
c.1516T>G (p.Ser506Ala)
c.485+15737A>C (n.485+15737A>C)
c.1408T>G (p.Ser470Ala)
c.1723T>G (p.Ser575Ala)
c.1678T>G (p.Ser560Ala)
c.1585T>G (p.Ser529Ala)
9g.36219916A>GCA373425639CLTA,GNEc.1831T>C (p.Ser611Pro)
c.1561T>C (p.Ser521Pro)
c.1738T>C (p.Ser580Pro)
c.1516T>C (p.Ser506Pro)
c.485+15737A>G (n.485+15737A>G)
c.1408T>C (p.Ser470Pro)
c.1723T>C (p.Ser575Pro)
c.1678T>C (p.Ser560Pro)
c.1585T>C (p.Ser529Pro)
9g.36219916A>TCA373425638CLTA,GNEc.1831T>A (p.Ser611Thr)
c.1561T>A (p.Ser521Thr)
c.1738T>A (p.Ser580Thr)
c.1516T>A (p.Ser506Thr)
c.485+15737A>T (n.485+15737A>T)
c.1408T>A (p.Ser470Thr)
c.1723T>A (p.Ser575Thr)
c.1678T>A (p.Ser560Thr)
c.1585T>A (p.Ser529Thr)
9g.36219917delCA1846328628CLTA,GNEc.1831del (p.Ser611ProfsTer?)
c.1561del (p.Ser521ProfsTer?)
c.1738del (p.Ser580ProfsTer?)
c.1516del (p.Ser506ProfsTer?)
c.485+15738del (n.485+15738del)
c.1408del (p.Ser470ProfsTer?)
c.1723del (p.Ser575ProfsTer?)
c.1678del (p.Ser560ProfsTer?)
c.1585del (p.Ser529ProfsTer?)
 dbSNP gnomAD v4
9g.36219917A>CCA373425641CLTA,GNEc.1830T>G (p.Cys610Trp)
c.1560T>G (p.Cys520Trp)
c.1737T>G (p.Cys579Trp)
c.1515T>G (p.Cys505Trp)
c.485+15738A>C (n.485+15738A>C)
c.1407T>G (p.Cys469Trp)
c.1722T>G (p.Cys574Trp)
c.1677T>G (p.Cys559Trp)
c.1584T>G (p.Cys528Trp)
9g.36219917A>GCA464494971CLTA,GNEc.1830T>C (p.Cys610=)
c.1560T>C (p.Cys520=)
c.1737T>C (p.Cys579=)
c.1515T>C (p.Cys505=)
c.485+15738A>G (n.485+15738A>G)
c.1407T>C (p.Cys469=)
c.1722T>C (p.Cys574=)
c.1677T>C (p.Cys559=)
c.1584T>C (p.Cys528=)
9g.36219917A>TCA373425642CLTA,GNEc.1830T>A (p.Cys610Ter)
c.1560T>A (p.Cys520Ter)
c.1737T>A (p.Cys579Ter)
c.1515T>A (p.Cys505Ter)
c.485+15738A>T (n.485+15738A>T)
c.1407T>A (p.Cys469Ter)
c.1722T>A (p.Cys574Ter)
c.1677T>A (p.Cys559Ter)
c.1584T>A (p.Cys528Ter)
9g.36219918C>ACA373425643CLTA,GNEc.1829G>T (p.Cys610Phe)
c.1559G>T (p.Cys520Phe)
c.1736G>T (p.Cys579Phe)
c.1514G>T (p.Cys505Phe)
c.485+15739C>A (n.485+15739C>A)
c.1406G>T (p.Cys469Phe)
c.1721G>T (p.Cys574Phe)
c.1676G>T (p.Cys559Phe)
c.1583G>T (p.Cys528Phe)
9g.36219918C>GCA373425644CLTA,GNEc.1829G>C (p.Cys610Ser)
c.1559G>C (p.Cys520Ser)
c.1736G>C (p.Cys579Ser)
c.1514G>C (p.Cys505Ser)
c.485+15739C>G (n.485+15739C>G)
c.1406G>C (p.Cys469Ser)
c.1721G>C (p.Cys574Ser)
c.1676G>C (p.Cys559Ser)
c.1583G>C (p.Cys528Ser)
9g.36219918C>TCA373425645CLTA,GNEc.1829G>A (p.Cys610Tyr)
c.1559G>A (p.Cys520Tyr)
c.1736G>A (p.Cys579Tyr)
c.1514G>A (p.Cys505Tyr)
c.485+15739C>T (n.485+15739C>T)
c.1406G>A (p.Cys469Tyr)
c.1721G>A (p.Cys574Tyr)
c.1676G>A (p.Cys559Tyr)
c.1583G>A (p.Cys528Tyr)
9g.36219919A>CCA373425646CLTA,GNEc.1828T>G (p.Cys610Gly)
c.1558T>G (p.Cys520Gly)
c.1735T>G (p.Cys579Gly)
c.1513T>G (p.Cys505Gly)
c.485+15740A>C (n.485+15740A>C)
c.1405T>G (p.Cys469Gly)
c.1720T>G (p.Cys574Gly)
c.1675T>G (p.Cys559Gly)
c.1582T>G (p.Cys528Gly)
9g.36219919A>GCA373425647CLTA,GNEc.1828T>C (p.Cys610Arg)
c.1558T>C (p.Cys520Arg)
c.1735T>C (p.Cys579Arg)
c.1513T>C (p.Cys505Arg)
c.485+15740A>G (n.485+15740A>G)
c.1405T>C (p.Cys469Arg)
c.1720T>C (p.Cys574Arg)
c.1675T>C (p.Cys559Arg)
c.1582T>C (p.Cys528Arg)
9g.36219919A>TCA373425648CLTA,GNEc.1828T>A (p.Cys610Ser)
c.1558T>A (p.Cys520Ser)
c.1735T>A (p.Cys579Ser)
c.1513T>A (p.Cys505Ser)
c.485+15740A>T (n.485+15740A>T)
c.1405T>A (p.Cys469Ser)
c.1720T>A (p.Cys574Ser)
c.1675T>A (p.Cys559Ser)
c.1582T>A (p.Cys528Ser)
9g.36219920A>CCA373425649CLTA,GNEc.1827T>G (p.Asp609Glu)
c.1557T>G (p.Asp519Glu)
c.1734T>G (p.Asp578Glu)
c.1512T>G (p.Asp504Glu)
c.485+15741A>C (n.485+15741A>C)
c.1404T>G (p.Asp468Glu)
c.1719T>G (p.Asp573Glu)
c.1674T>G (p.Asp558Glu)
c.1581T>G (p.Asp527Glu)
9g.36219920A>GCA464494972CLTA,GNEc.1827T>C (p.Asp609=)
c.1557T>C (p.Asp519=)
c.1734T>C (p.Asp578=)
c.1512T>C (p.Asp504=)
c.485+15741A>G (n.485+15741A>G)
c.1404T>C (p.Asp468=)
c.1719T>C (p.Asp573=)
c.1674T>C (p.Asp558=)
c.1581T>C (p.Asp527=)
9g.36219920A>TCA373425650CLTA,GNEc.1827T>A (p.Asp609Glu)
c.1557T>A (p.Asp519Glu)
c.1734T>A (p.Asp578Glu)
c.1512T>A (p.Asp504Glu)
c.485+15741A>T (n.485+15741A>T)
c.1404T>A (p.Asp468Glu)
c.1719T>A (p.Asp573Glu)
c.1674T>A (p.Asp558Glu)
c.1581T>A (p.Asp527Glu)
9g.36219921T>ACA373425651CLTA,GNEc.1826A>T (p.Asp609Val)
c.1556A>T (p.Asp519Val)
c.1733A>T (p.Asp578Val)
c.1511A>T (p.Asp504Val)
c.485+15742T>A (n.485+15742T>A)
c.1403A>T (p.Asp468Val)
c.1718A>T (p.Asp573Val)
c.1673A>T (p.Asp558Val)
c.1580A>T (p.Asp527Val)
 gnomAD v4
9g.36219921T>CCA373425652CLTA,GNEc.1826A>G (p.Asp609Gly)
c.1556A>G (p.Asp519Gly)
c.1733A>G (p.Asp578Gly)
c.1511A>G (p.Asp504Gly)
c.485+15742T>C (n.485+15742T>C)
c.1403A>G (p.Asp468Gly)
c.1718A>G (p.Asp573Gly)
c.1673A>G (p.Asp558Gly)
c.1580A>G (p.Asp527Gly)
9g.36219921T>GCA373425653CLTA,GNEc.1826A>C (p.Asp609Ala)
c.1556A>C (p.Asp519Ala)
c.1733A>C (p.Asp578Ala)
c.1511A>C (p.Asp504Ala)
c.485+15742T>G (n.485+15742T>G)
c.1403A>C (p.Asp468Ala)
c.1718A>C (p.Asp573Ala)
c.1673A>C (p.Asp558Ala)
c.1580A>C (p.Asp527Ala)
9g.36219922C>ACA373425655CLTA,GNEc.1825G>T (p.Asp609Tyr)
c.1555G>T (p.Asp519Tyr)
c.1732G>T (p.Asp578Tyr)
c.1510G>T (p.Asp504Tyr)
c.485+15743C>A (n.485+15743C>A)
c.1402G>T (p.Asp468Tyr)
c.1717G>T (p.Asp573Tyr)
c.1672G>T (p.Asp558Tyr)
c.1579G>T (p.Asp527Tyr)
9g.36219922C=CA1846328631CLTA,GNEc.1825G= (p.Asp609=)
c.1555G= (p.Asp519=)
c.1732G= (p.Asp578=)
c.1510G= (p.Asp504=)
c.485+15743C= (n.485+15743C=)
c.1402G= (p.Asp468=)
c.1717G= (p.Asp573=)
c.1672G= (p.Asp558=)
c.1579G= (p.Asp527=)
9g.36219922C>GCA5056432CLTA,GNEc.1825G>C (p.Asp609His)
c.1555G>C (p.Asp519His)
c.1732G>C (p.Asp578His)
c.1510G>C (p.Asp504His)
c.485+15743C>G (n.485+15743C>G)
c.1402G>C (p.Asp468His)
c.1717G>C (p.Asp573His)
c.1672G>C (p.Asp558His)
c.1579G>C (p.Asp527His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219922C>TCA373425654CLTA,GNEc.1825G>A (p.Asp609Asn)
c.1555G>A (p.Asp519Asn)
c.1732G>A (p.Asp578Asn)
c.1510G>A (p.Asp504Asn)
c.485+15743C>T (n.485+15743C>T)
c.1402G>A (p.Asp468Asn)
c.1717G>A (p.Asp573Asn)
c.1672G>A (p.Asp558Asn)
c.1579G>A (p.Asp527Asn)
9g.36219923A>CCA464494973CLTA,GNEc.1824T>G (p.Pro608=)
c.1554T>G (p.Pro518=)
c.1731T>G (p.Pro577=)
c.1509T>G (p.Pro503=)
c.485+15744A>C (n.485+15744A>C)
c.1401T>G (p.Pro467=)
c.1716T>G (p.Pro572=)
c.1671T>G (p.Pro557=)
c.1578T>G (p.Pro526=)
9g.36219923A>GCA464494974CLTA,GNEc.1824T>C (p.Pro608=)
c.1554T>C (p.Pro518=)
c.1731T>C (p.Pro577=)
c.1509T>C (p.Pro503=)
c.485+15744A>G (n.485+15744A>G)
c.1401T>C (p.Pro467=)
c.1716T>C (p.Pro572=)
c.1671T>C (p.Pro557=)
c.1578T>C (p.Pro526=)
9g.36219923A>TCA464494975CLTA,GNEc.1824T>A (p.Pro608=)
c.1554T>A (p.Pro518=)
c.1731T>A (p.Pro577=)
c.1509T>A (p.Pro503=)
c.485+15744A>T (n.485+15744A>T)
c.1401T>A (p.Pro467=)
c.1716T>A (p.Pro572=)
c.1671T>A (p.Pro557=)
c.1578T>A (p.Pro526=)
9g.36219924G>ACA373425656CLTA,GNEc.1823C>T (p.Pro608Leu)
c.1553C>T (p.Pro518Leu)
c.1730C>T (p.Pro577Leu)
c.1508C>T (p.Pro503Leu)
c.485+15745G>A (n.485+15745G>A)
c.1400C>T (p.Pro467Leu)
c.1715C>T (p.Pro572Leu)
c.1670C>T (p.Pro557Leu)
c.1577C>T (p.Pro526Leu)
 ClinVar dbSNP gnomAD v4
9g.36219924G>CCA373425658CLTA,GNEc.1823C>G (p.Pro608Arg)
c.1553C>G (p.Pro518Arg)
c.1730C>G (p.Pro577Arg)
c.1508C>G (p.Pro503Arg)
c.485+15745G>C (n.485+15745G>C)
c.1400C>G (p.Pro467Arg)
c.1715C>G (p.Pro572Arg)
c.1670C>G (p.Pro557Arg)
c.1577C>G (p.Pro526Arg)
 ClinVar dbSNP
9g.36219924G=CA1846328645CLTA,GNEc.1823C= (p.Pro608=)
c.1553C= (p.Pro518=)
c.1730C= (p.Pro577=)
c.1508C= (p.Pro503=)
c.485+15745G= (n.485+15745G=)
c.1400C= (p.Pro467=)
c.1715C= (p.Pro572=)
c.1670C= (p.Pro557=)
c.1577C= (p.Pro526=)
9g.36219924G>TCA373425657CLTA,GNEc.1823C>A (p.Pro608His)
c.1553C>A (p.Pro518His)
c.1730C>A (p.Pro577His)
c.1508C>A (p.Pro503His)
c.485+15745G>T (n.485+15745G>T)
c.1400C>A (p.Pro467His)
c.1715C>A (p.Pro572His)
c.1670C>A (p.Pro557His)
c.1577C>A (p.Pro526His)
9g.36219925G>ACA373425659CLTA,GNEc.1822C>T (p.Pro608Ser)
c.1552C>T (p.Pro518Ser)
c.1729C>T (p.Pro577Ser)
c.1507C>T (p.Pro503Ser)
c.485+15746G>A (n.485+15746G>A)
c.1399C>T (p.Pro467Ser)
c.1714C>T (p.Pro572Ser)
c.1669C>T (p.Pro557Ser)
c.1576C>T (p.Pro526Ser)
 gnomAD v4
9g.36219925G>CCA373425660CLTA,GNEc.1822C>G (p.Pro608Ala)
c.1552C>G (p.Pro518Ala)
c.1729C>G (p.Pro577Ala)
c.1507C>G (p.Pro503Ala)
c.485+15746G>C (n.485+15746G>C)
c.1399C>G (p.Pro467Ala)
c.1714C>G (p.Pro572Ala)
c.1669C>G (p.Pro557Ala)
c.1576C>G (p.Pro526Ala)
9g.36219925G=CA1846328658CLTA,GNEc.1822C= (p.Pro608=)
c.1552C= (p.Pro518=)
c.1729C= (p.Pro577=)
c.1507C= (p.Pro503=)
c.485+15746G= (n.485+15746G=)
c.1399C= (p.Pro467=)
c.1714C= (p.Pro572=)
c.1669C= (p.Pro557=)
c.1576C= (p.Pro526=)
9g.36219925G>TCA10606897CLTA,GNEc.1822C>A (p.Pro608Thr)
c.1552C>A (p.Pro518Thr)
c.1729C>A (p.Pro577Thr)
c.1507C>A (p.Pro503Thr)
c.485+15746G>T (n.485+15746G>T)
c.1399C>A (p.Pro467Thr)
c.1714C>A (p.Pro572Thr)
c.1669C>A (p.Pro557Thr)
c.1576C>A (p.Pro526Thr)
 ClinVar dbSNP
9g.36219926C>ACA464494978CLTA,GNEc.1821G>T (p.Gly607=)
c.1551G>T (p.Gly517=)
c.1728G>T (p.Gly576=)
c.1506G>T (p.Gly502=)
c.485+15747C>A (n.485+15747C>A)
c.1398G>T (p.Gly466=)
c.1713G>T (p.Gly571=)
c.1668G>T (p.Gly556=)
c.1575G>T (p.Gly525=)
9g.36219926C>GCA464494976CLTA,GNEc.1821G>C (p.Gly607=)
c.1551G>C (p.Gly517=)
c.1728G>C (p.Gly576=)
c.1506G>C (p.Gly502=)
c.485+15747C>G (n.485+15747C>G)
c.1398G>C (p.Gly466=)
c.1713G>C (p.Gly571=)
c.1668G>C (p.Gly556=)
c.1575G>C (p.Gly525=)
9g.36219926C>TCA464494977CLTA,GNEc.1821G>A (p.Gly607=)
c.1551G>A (p.Gly517=)
c.1728G>A (p.Gly576=)
c.1506G>A (p.Gly502=)
c.485+15747C>T (n.485+15747C>T)
c.1398G>A (p.Gly466=)
c.1713G>A (p.Gly571=)
c.1668G>A (p.Gly556=)
c.1575G>A (p.Gly525=)
9g.36219927C>ACA373425661CLTA,GNEc.1820G>T (p.Gly607Val)
c.1550G>T (p.Gly517Val)
c.1727G>T (p.Gly576Val)
c.1505G>T (p.Gly502Val)
c.485+15748C>A (n.485+15748C>A)
c.1397G>T (p.Gly466Val)
c.1712G>T (p.Gly571Val)
c.1667G>T (p.Gly556Val)
c.1574G>T (p.Gly525Val)
9g.36219927C=CA1846328669CLTA,GNEc.1820G= (p.Gly607=)
c.1550G= (p.Gly517=)
c.1727G= (p.Gly576=)
c.1505G= (p.Gly502=)
c.485+15748C= (n.485+15748C=)
c.1397G= (p.Gly466=)
c.1712G= (p.Gly571=)
c.1667G= (p.Gly556=)
c.1574G= (p.Gly525=)
9g.36219927C>GCA373425662CLTA,GNEc.1820G>C (p.Gly607Ala)
c.1550G>C (p.Gly517Ala)
c.1727G>C (p.Gly576Ala)
c.1505G>C (p.Gly502Ala)
c.485+15748C>G (n.485+15748C>G)
c.1397G>C (p.Gly466Ala)
c.1712G>C (p.Gly571Ala)
c.1667G>C (p.Gly556Ala)
c.1574G>C (p.Gly525Ala)
9g.36219927C>TCA253681CLTA,GNEc.1820G>A (p.Gly607Glu)
c.1550G>A (p.Gly517Glu)
c.1727G>A (p.Gly576Glu)
c.1505G>A (p.Gly502Glu)
c.485+15748C>T (n.485+15748C>T)
c.1397G>A (p.Gly466Glu)
c.1712G>A (p.Gly571Glu)
c.1667G>A (p.Gly556Glu)
c.1574G>A (p.Gly525Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219928C>ACA373425663CLTA,GNEc.1819G>T (p.Gly607Trp)
c.1549G>T (p.Gly517Trp)
c.1726G>T (p.Gly576Trp)
c.1504G>T (p.Gly502Trp)
c.485+15749C>A (n.485+15749C>A)
c.1396G>T (p.Gly466Trp)
c.1711G>T (p.Gly571Trp)
c.1666G>T (p.Gly556Trp)
c.1573G>T (p.Gly525Trp)
9g.36219928C>GCA373425665CLTA,GNEc.1819G>C (p.Gly607Arg)
c.1549G>C (p.Gly517Arg)
c.1726G>C (p.Gly576Arg)
c.1504G>C (p.Gly502Arg)
c.485+15749C>G (n.485+15749C>G)
c.1396G>C (p.Gly466Arg)
c.1711G>C (p.Gly571Arg)
c.1666G>C (p.Gly556Arg)
c.1573G>C (p.Gly525Arg)
9g.36219928C>TCA373425664CLTA,GNEc.1819G>A (p.Gly607Arg)
c.1549G>A (p.Gly517Arg)
c.1726G>A (p.Gly576Arg)
c.1504G>A (p.Gly502Arg)
c.485+15749C>T (n.485+15749C>T)
c.1396G>A (p.Gly466Arg)
c.1711G>A (p.Gly571Arg)
c.1666G>A (p.Gly556Arg)
c.1573G>A (p.Gly525Arg)
9g.36219929A>CCA373425666CLTA,GNEc.1818T>G (p.Asp606Glu)
c.1548T>G (p.Asp516Glu)
c.1725T>G (p.Asp575Glu)
c.1503T>G (p.Asp501Glu)
c.485+15750A>C (n.485+15750A>C)
c.1395T>G (p.Asp465Glu)
c.1710T>G (p.Asp570Glu)
c.1665T>G (p.Asp555Glu)
c.1572T>G (p.Asp524Glu)
9g.36219929A>GCA464494979CLTA,GNEc.1818T>C (p.Asp606=)
c.1548T>C (p.Asp516=)
c.1725T>C (p.Asp575=)
c.1503T>C (p.Asp501=)
c.485+15750A>G (n.485+15750A>G)
c.1395T>C (p.Asp465=)
c.1710T>C (p.Asp570=)
c.1665T>C (p.Asp555=)
c.1572T>C (p.Asp524=)
9g.36219929A>TCA373425667CLTA,GNEc.1818T>A (p.Asp606Glu)
c.1548T>A (p.Asp516Glu)
c.1725T>A (p.Asp575Glu)
c.1503T>A (p.Asp501Glu)
c.485+15750A>T (n.485+15750A>T)
c.1395T>A (p.Asp465Glu)
c.1710T>A (p.Asp570Glu)
c.1665T>A (p.Asp555Glu)
c.1572T>A (p.Asp524Glu)
9g.36219930T>ACA373425668CLTA,GNEc.1817A>T (p.Asp606Val)
c.1547A>T (p.Asp516Val)
c.1724A>T (p.Asp575Val)
c.1502A>T (p.Asp501Val)
c.485+15751T>A (n.485+15751T>A)
c.1394A>T (p.Asp465Val)
c.1709A>T (p.Asp570Val)
c.1664A>T (p.Asp555Val)
c.1571A>T (p.Asp524Val)
9g.36219930T>CCA373425669CLTA,GNEc.1817A>G (p.Asp606Gly)
c.1547A>G (p.Asp516Gly)
c.1724A>G (p.Asp575Gly)
c.1502A>G (p.Asp501Gly)
c.485+15751T>C (n.485+15751T>C)
c.1394A>G (p.Asp465Gly)
c.1709A>G (p.Asp570Gly)
c.1664A>G (p.Asp555Gly)
c.1571A>G (p.Asp524Gly)
9g.36219930T>GCA373425670CLTA,GNEc.1817A>C (p.Asp606Ala)
c.1547A>C (p.Asp516Ala)
c.1724A>C (p.Asp575Ala)
c.1502A>C (p.Asp501Ala)
c.485+15751T>G (n.485+15751T>G)
c.1394A>C (p.Asp465Ala)
c.1709A>C (p.Asp570Ala)
c.1664A>C (p.Asp555Ala)
c.1571A>C (p.Asp524Ala)
9g.36219931C>ACA373425671CLTA,GNEc.1816G>T (p.Asp606Tyr)
c.1546G>T (p.Asp516Tyr)
c.1723G>T (p.Asp575Tyr)
c.1501G>T (p.Asp501Tyr)
c.485+15752C>A (n.485+15752C>A)
c.1393G>T (p.Asp465Tyr)
c.1708G>T (p.Asp570Tyr)
c.1663G>T (p.Asp555Tyr)
c.1570G>T (p.Asp524Tyr)
9g.36219931C=CA1846328675CLTA,GNEc.1816G= (p.Asp606=)
c.1546G= (p.Asp516=)
c.1723G= (p.Asp575=)
c.1501G= (p.Asp501=)
c.485+15752C= (n.485+15752C=)
c.1393G= (p.Asp465=)
c.1708G= (p.Asp570=)
c.1663G= (p.Asp555=)
c.1570G= (p.Asp524=)
9g.36219931C>GCA192841400CLTA,GNEc.1816G>C (p.Asp606His)
c.1546G>C (p.Asp516His)
c.1723G>C (p.Asp575His)
c.1501G>C (p.Asp501His)
c.485+15752C>G (n.485+15752C>G)
c.1393G>C (p.Asp465His)
c.1708G>C (p.Asp570His)
c.1663G>C (p.Asp555His)
c.1570G>C (p.Asp524His)
 dbSNP gnomAD v4
9g.36219931C>TCA373425672CLTA,GNEc.1816G>A (p.Asp606Asn)
c.1546G>A (p.Asp516Asn)
c.1723G>A (p.Asp575Asn)
c.1501G>A (p.Asp501Asn)
c.485+15752C>T (n.485+15752C>T)
c.1393G>A (p.Asp465Asn)
c.1708G>A (p.Asp570Asn)
c.1663G>A (p.Asp555Asn)
c.1570G>A (p.Asp524Asn)
9g.36219932C>ACA464494980CLTA,GNEc.1815G>T (p.Leu605=)
c.1545G>T (p.Leu515=)
c.1722G>T (p.Leu574=)
c.1500G>T (p.Leu500=)
c.485+15753C>A (n.485+15753C>A)
c.1392G>T (p.Leu464=)
c.1707G>T (p.Leu569=)
c.1662G>T (p.Leu554=)
c.1569G>T (p.Leu523=)
9g.36219932C>GCA464494982CLTA,GNEc.1815G>C (p.Leu605=)
c.1545G>C (p.Leu515=)
c.1722G>C (p.Leu574=)
c.1500G>C (p.Leu500=)
c.485+15753C>G (n.485+15753C>G)
c.1392G>C (p.Leu464=)
c.1707G>C (p.Leu569=)
c.1662G>C (p.Leu554=)
c.1569G>C (p.Leu523=)
9g.36219932C>TCA464494981CLTA,GNEc.1815G>A (p.Leu605=)
c.1545G>A (p.Leu515=)
c.1722G>A (p.Leu574=)
c.1500G>A (p.Leu500=)
c.485+15753C>T (n.485+15753C>T)
c.1392G>A (p.Leu464=)
c.1707G>A (p.Leu569=)
c.1662G>A (p.Leu554=)
c.1569G>A (p.Leu523=)
9g.36219932_36219933delinsCACA1846328682CLTA,GNEc.1814_1815delinsTG (p.Leu605=)
c.1544_1545delinsTG (p.Leu515=)
c.1721_1722delinsTG (p.Leu574=)
c.1499_1500delinsTG (p.Leu500=)
c.485+15753_485+15754delinsCA (n.485+15753_485+15754delinsCA)
c.1391_1392delinsTG (p.Leu464=)
c.1706_1707delinsTG (p.Leu569=)
c.1661_1662delinsTG (p.Leu554=)
c.1568_1569delinsTG (p.Leu523=)
9g.36219933delCA587786883CLTA,GNEc.1814del (p.Leu605ArgfsTer?)
c.1544del (p.Leu515ArgfsTer?)
c.1721del (p.Leu574ArgfsTer?)
c.1499del (p.Leu500ArgfsTer?)
c.485+15754del (n.485+15754del)
c.1391del (p.Leu464ArgfsTer?)
c.1706del (p.Leu569ArgfsTer?)
c.1661del (p.Leu554ArgfsTer?)
c.1568del (p.Leu523ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36219933A>CCA373425673CLTA,GNEc.1814T>G (p.Leu605Arg)
c.1544T>G (p.Leu515Arg)
c.1721T>G (p.Leu574Arg)
c.1499T>G (p.Leu500Arg)
c.485+15754A>C (n.485+15754A>C)
c.1391T>G (p.Leu464Arg)
c.1706T>G (p.Leu569Arg)
c.1661T>G (p.Leu554Arg)
c.1568T>G (p.Leu523Arg)
9g.36219933A>GCA373425674CLTA,GNEc.1814T>C (p.Leu605Pro)
c.1544T>C (p.Leu515Pro)
c.1721T>C (p.Leu574Pro)
c.1499T>C (p.Leu500Pro)
c.485+15754A>G (n.485+15754A>G)
c.1391T>C (p.Leu464Pro)
c.1706T>C (p.Leu569Pro)
c.1661T>C (p.Leu554Pro)
c.1568T>C (p.Leu523Pro)
9g.36219933A>TCA373425675CLTA,GNEc.1814T>A (p.Leu605Gln)
c.1544T>A (p.Leu515Gln)
c.1721T>A (p.Leu574Gln)
c.1499T>A (p.Leu500Gln)
c.485+15754A>T (n.485+15754A>T)
c.1391T>A (p.Leu464Gln)
c.1706T>A (p.Leu569Gln)
c.1661T>A (p.Leu554Gln)
c.1568T>A (p.Leu523Gln)
9g.36219934G>ACA464494983CLTA,GNEc.1813C>T (p.Leu605=)
c.1543C>T (p.Leu515=)
c.1720C>T (p.Leu574=)
c.1498C>T (p.Leu500=)
c.485+15755G>A (n.485+15755G>A)
c.1390C>T (p.Leu464=)
c.1705C>T (p.Leu569=)
c.1660C>T (p.Leu554=)
c.1567C>T (p.Leu523=)
9g.36219934G>CCA373425676CLTA,GNEc.1813C>G (p.Leu605Val)
c.1543C>G (p.Leu515Val)
c.1720C>G (p.Leu574Val)
c.1498C>G (p.Leu500Val)
c.485+15755G>C (n.485+15755G>C)
c.1390C>G (p.Leu464Val)
c.1705C>G (p.Leu569Val)
c.1660C>G (p.Leu554Val)
c.1567C>G (p.Leu523Val)
9g.36219934G>TCA373425677CLTA,GNEc.1813C>A (p.Leu605Met)
c.1543C>A (p.Leu515Met)
c.1720C>A (p.Leu574Met)
c.1498C>A (p.Leu500Met)
c.485+15755G>T (n.485+15755G>T)
c.1390C>A (p.Leu464Met)
c.1705C>A (p.Leu569Met)
c.1660C>A (p.Leu554Met)
c.1567C>A (p.Leu523Met)
9g.36219935A=CA1846328691CLTA,GNEc.1812T= (p.Ser604=)
c.1542T= (p.Ser514=)
c.1719T= (p.Ser573=)
c.1497T= (p.Ser499=)
c.485+15756A= (n.485+15756A=)
c.1389T= (p.Ser463=)
c.1704T= (p.Ser568=)
c.1659T= (p.Ser553=)
c.1566T= (p.Ser522=)
9g.36219935A>CCA464494984CLTA,GNEc.1812T>G (p.Ser604=)
c.1542T>G (p.Ser514=)
c.1719T>G (p.Ser573=)
c.1497T>G (p.Ser499=)
c.485+15756A>C (n.485+15756A>C)
c.1389T>G (p.Ser463=)
c.1704T>G (p.Ser568=)
c.1659T>G (p.Ser553=)
c.1566T>G (p.Ser522=)
9g.36219935A>GCA464494985CLTA,GNEc.1812T>C (p.Ser604=)
c.1542T>C (p.Ser514=)
c.1719T>C (p.Ser573=)
c.1497T>C (p.Ser499=)
c.485+15756A>G (n.485+15756A>G)
c.1389T>C (p.Ser463=)
c.1704T>C (p.Ser568=)
c.1659T>C (p.Ser553=)
c.1566T>C (p.Ser522=)
 dbSNP gnomAD v2 gnomAD v4
9g.36219935A>TCA464494986CLTA,GNEc.1812T>A (p.Ser604=)
c.1542T>A (p.Ser514=)
c.1719T>A (p.Ser573=)
c.1497T>A (p.Ser499=)
c.485+15756A>T (n.485+15756A>T)
c.1389T>A (p.Ser463=)
c.1704T>A (p.Ser568=)
c.1659T>A (p.Ser553=)
c.1566T>A (p.Ser522=)
9g.36219936G>ACA373425680CLTA,GNEc.1811C>T (p.Ser604Phe)
c.1541C>T (p.Ser514Phe)
c.1718C>T (p.Ser573Phe)
c.1496C>T (p.Ser499Phe)
c.485+15757G>A (n.485+15757G>A)
c.1388C>T (p.Ser463Phe)
c.1703C>T (p.Ser568Phe)
c.1658C>T (p.Ser553Phe)
c.1565C>T (p.Ser522Phe)
9g.36219936G>CCA373425678CLTA,GNEc.1811C>G (p.Ser604Cys)
c.1541C>G (p.Ser514Cys)
c.1718C>G (p.Ser573Cys)
c.1496C>G (p.Ser499Cys)
c.485+15757G>C (n.485+15757G>C)
c.1388C>G (p.Ser463Cys)
c.1703C>G (p.Ser568Cys)
c.1658C>G (p.Ser553Cys)
c.1565C>G (p.Ser522Cys)
9g.36219936G>TCA373425679CLTA,GNEc.1811C>A (p.Ser604Tyr)
c.1541C>A (p.Ser514Tyr)
c.1718C>A (p.Ser573Tyr)
c.1496C>A (p.Ser499Tyr)
c.485+15757G>T (n.485+15757G>T)
c.1388C>A (p.Ser463Tyr)
c.1703C>A (p.Ser568Tyr)
c.1658C>A (p.Ser553Tyr)
c.1565C>A (p.Ser522Tyr)
9g.36219937A>CCA373425681CLTA,GNEc.1810T>G (p.Ser604Ala)
c.1540T>G (p.Ser514Ala)
c.1717T>G (p.Ser573Ala)
c.1495T>G (p.Ser499Ala)
c.485+15758A>C (n.485+15758A>C)
c.1387T>G (p.Ser463Ala)
c.1702T>G (p.Ser568Ala)
c.1657T>G (p.Ser553Ala)
c.1564T>G (p.Ser522Ala)
9g.36219937A>GCA373425682CLTA,GNEc.1810T>C (p.Ser604Pro)
c.1540T>C (p.Ser514Pro)
c.1717T>C (p.Ser573Pro)
c.1495T>C (p.Ser499Pro)
c.485+15758A>G (n.485+15758A>G)
c.1387T>C (p.Ser463Pro)
c.1702T>C (p.Ser568Pro)
c.1657T>C (p.Ser553Pro)
c.1564T>C (p.Ser522Pro)
9g.36219937A>TCA373425683CLTA,GNEc.1810T>A (p.Ser604Thr)
c.1540T>A (p.Ser514Thr)
c.1717T>A (p.Ser573Thr)
c.1495T>A (p.Ser499Thr)
c.485+15758A>T (n.485+15758A>T)
c.1387T>A (p.Ser463Thr)
c.1702T>A (p.Ser568Thr)
c.1657T>A (p.Ser553Thr)
c.1564T>A (p.Ser522Thr)
 ClinVar dbSNP
9g.36219938C>ACA464494988CLTA,GNEc.1809G>T (p.Val603=)
c.1539G>T (p.Val513=)
c.1716G>T (p.Val572=)
c.1494G>T (p.Val498=)
c.485+15759C>A (n.485+15759C>A)
c.1386G>T (p.Val462=)
c.1701G>T (p.Val567=)
c.1656G>T (p.Val552=)
c.1563G>T (p.Val521=)
9g.36219938C=CA1846328697CLTA,GNEc.1809G= (p.Val603=)
c.1539G= (p.Val513=)
c.1716G= (p.Val572=)
c.1494G= (p.Val498=)
c.485+15759C= (n.485+15759C=)
c.1386G= (p.Val462=)
c.1701G= (p.Val567=)
c.1656G= (p.Val552=)
c.1563G= (p.Val521=)
9g.36219938C>GCA464494989CLTA,GNEc.1809G>C (p.Val603=)
c.1539G>C (p.Val513=)
c.1716G>C (p.Val572=)
c.1494G>C (p.Val498=)
c.485+15759C>G (n.485+15759C>G)
c.1386G>C (p.Val462=)
c.1701G>C (p.Val567=)
c.1656G>C (p.Val552=)
c.1563G>C (p.Val521=)
9g.36219938C>TCA464494990CLTA,GNEc.1809G>A (p.Val603=)
c.1539G>A (p.Val513=)
c.1716G>A (p.Val572=)
c.1494G>A (p.Val498=)
c.485+15759C>T (n.485+15759C>T)
c.1386G>A (p.Val462=)
c.1701G>A (p.Val567=)
c.1656G>A (p.Val552=)
c.1563G>A (p.Val521=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36219938_36219941delinsCACACA1846328696CLTA,GNEc.1806_1809delinsTGTG (p.Val602=)
c.1536_1539delinsTGTG (p.Val512=)
c.1713_1716delinsTGTG (p.Val571=)
c.1491_1494delinsTGTG (p.Val497=)
c.485+15759_485+15762delinsCACA (n.485+15759_485+15762delinsCACA)
c.1383_1386delinsTGTG (p.Val461=)
c.1698_1701delinsTGTG (p.Val566=)
c.1653_1656delinsTGTG (p.Val551=)
c.1560_1563delinsTGTG (p.Val520=)
9g.36219939A>CCA373425684CLTA,GNEc.1808T>G (p.Val603Gly)
c.1538T>G (p.Val513Gly)
c.1715T>G (p.Val572Gly)
c.1493T>G (p.Val498Gly)
c.485+15760A>C (n.485+15760A>C)
c.1385T>G (p.Val462Gly)
c.1700T>G (p.Val567Gly)
c.1655T>G (p.Val552Gly)
c.1562T>G (p.Val521Gly)
9g.36219939A>GCA373425685CLTA,GNEc.1808T>C (p.Val603Ala)
c.1538T>C (p.Val513Ala)
c.1715T>C (p.Val572Ala)
c.1493T>C (p.Val498Ala)
c.485+15760A>G (n.485+15760A>G)
c.1385T>C (p.Val462Ala)
c.1700T>C (p.Val567Ala)
c.1655T>C (p.Val552Ala)
c.1562T>C (p.Val521Ala)
9g.36219939A>TCA373425686CLTA,GNEc.1808T>A (p.Val603Glu)
c.1538T>A (p.Val513Glu)
c.1715T>A (p.Val572Glu)
c.1493T>A (p.Val498Glu)
c.485+15760A>T (n.485+15760A>T)
c.1385T>A (p.Val462Glu)
c.1700T>A (p.Val567Glu)
c.1655T>A (p.Val552Glu)
c.1562T>A (p.Val521Glu)
9g.36219943_36219945delCA5056433CLTA,GNEc.1806_1808del (p.Val603del)
c.1536_1538del (p.Val513del)
c.1713_1715del (p.Val572del)
c.1491_1493del (p.Val498del)
c.485+15764_485+15766del (n.485+15764_485+15766del)
c.1383_1385del (p.Val462del)
c.1698_1700del (p.Val567del)
c.1653_1655del (p.Val552del)
c.1560_1562del (p.Val521del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219940C>ACA373425687CLTA,GNEc.1807G>T (p.Val603Leu)
c.1537G>T (p.Val513Leu)
c.1714G>T (p.Val572Leu)
c.1492G>T (p.Val498Leu)
c.485+15761C>A (n.485+15761C>A)
c.1384G>T (p.Val462Leu)
c.1699G>T (p.Val567Leu)
c.1654G>T (p.Val552Leu)
c.1561G>T (p.Val521Leu)
 gnomAD v4
9g.36219940C=CA1846328712CLTA,GNEc.1807G= (p.Val603=)
c.1537G= (p.Val513=)
c.1714G= (p.Val572=)
c.1492G= (p.Val498=)
c.485+15761C= (n.485+15761C=)
c.1384G= (p.Val462=)
c.1699G= (p.Val567=)
c.1654G= (p.Val552=)
c.1561G= (p.Val521=)
9g.36219940C>GCA274932CLTA,GNEc.1807G>C (p.Val603Leu)
c.1537G>C (p.Val513Leu)
c.1714G>C (p.Val572Leu)
c.1492G>C (p.Val498Leu)
c.485+15761C>G (n.485+15761C>G)
c.1384G>C (p.Val462Leu)
c.1699G>C (p.Val567Leu)
c.1654G>C (p.Val552Leu)
c.1561G>C (p.Val521Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219940C>TCA373425688CLTA,GNEc.1807G>A (p.Val603Met)
c.1537G>A (p.Val513Met)
c.1714G>A (p.Val572Met)
c.1492G>A (p.Val498Met)
c.485+15761C>T (n.485+15761C>T)
c.1384G>A (p.Val462Met)
c.1699G>A (p.Val567Met)
c.1654G>A (p.Val552Met)
c.1561G>A (p.Val521Met)
9g.36219941A>CCA464494993CLTA,GNEc.1806T>G (p.Val602=)
c.1536T>G (p.Val512=)
c.1713T>G (p.Val571=)
c.1491T>G (p.Val497=)
c.485+15762A>C (n.485+15762A>C)
c.1383T>G (p.Val461=)
c.1698T>G (p.Val566=)
c.1653T>G (p.Val551=)
c.1560T>G (p.Val520=)
9g.36219941A>GCA464494992CLTA,GNEc.1806T>C (p.Val602=)
c.1536T>C (p.Val512=)
c.1713T>C (p.Val571=)
c.1491T>C (p.Val497=)
c.485+15762A>G (n.485+15762A>G)
c.1383T>C (p.Val461=)
c.1698T>C (p.Val566=)
c.1653T>C (p.Val551=)
c.1560T>C (p.Val520=)
9g.36219941A>TCA464494991CLTA,GNEc.1806T>A (p.Val602=)
c.1536T>A (p.Val512=)
c.1713T>A (p.Val571=)
c.1491T>A (p.Val497=)
c.485+15762A>T (n.485+15762A>T)
c.1383T>A (p.Val461=)
c.1698T>A (p.Val566=)
c.1653T>A (p.Val551=)
c.1560T>A (p.Val520=)
9g.36219942A>CCA373425690CLTA,GNEc.1805T>G (p.Val602Gly)
c.1535T>G (p.Val512Gly)
c.1712T>G (p.Val571Gly)
c.1490T>G (p.Val497Gly)
c.485+15763A>C (n.485+15763A>C)
c.1382T>G (p.Val461Gly)
c.1697T>G (p.Val566Gly)
c.1652T>G (p.Val551Gly)
c.1559T>G (p.Val520Gly)
9g.36219942A>GCA373425691CLTA,GNEc.1805T>C (p.Val602Ala)
c.1535T>C (p.Val512Ala)
c.1712T>C (p.Val571Ala)
c.1490T>C (p.Val497Ala)
c.485+15763A>G (n.485+15763A>G)
c.1382T>C (p.Val461Ala)
c.1697T>C (p.Val566Ala)
c.1652T>C (p.Val551Ala)
c.1559T>C (p.Val520Ala)
9g.36219942A>TCA373425689CLTA,GNEc.1805T>A (p.Val602Asp)
c.1535T>A (p.Val512Asp)
c.1712T>A (p.Val571Asp)
c.1490T>A (p.Val497Asp)
c.485+15763A>T (n.485+15763A>T)
c.1382T>A (p.Val461Asp)
c.1697T>A (p.Val566Asp)
c.1652T>A (p.Val551Asp)
c.1559T>A (p.Val520Asp)
9g.36219943C>ACA373425692CLTA,GNEc.1804G>T (p.Val602Phe)
c.1534G>T (p.Val512Phe)
c.1711G>T (p.Val571Phe)
c.1489G>T (p.Val497Phe)
c.485+15764C>A (n.485+15764C>A)
c.1381G>T (p.Val461Phe)
c.1696G>T (p.Val566Phe)
c.1651G>T (p.Val551Phe)
c.1558G>T (p.Val520Phe)
9g.36219943C=CA1846328718CLTA,GNEc.1804G= (p.Val602=)
c.1534G= (p.Val512=)
c.1711G= (p.Val571=)
c.1489G= (p.Val497=)
c.485+15764C= (n.485+15764C=)
c.1381G= (p.Val461=)
c.1696G= (p.Val566=)
c.1651G= (p.Val551=)
c.1558G= (p.Val520=)
9g.36219943C>GCA373425693CLTA,GNEc.1804G>C (p.Val602Leu)
c.1534G>C (p.Val512Leu)
c.1711G>C (p.Val571Leu)
c.1489G>C (p.Val497Leu)
c.485+15764C>G (n.485+15764C>G)
c.1381G>C (p.Val461Leu)
c.1696G>C (p.Val566Leu)
c.1651G>C (p.Val551Leu)
c.1558G>C (p.Val520Leu)
9g.36219943C>TCA373425694CLTA,GNEc.1804G>A (p.Val602Ile)
c.1534G>A (p.Val512Ile)
c.1711G>A (p.Val571Ile)
c.1489G>A (p.Val497Ile)
c.485+15764C>T (n.485+15764C>T)
c.1381G>A (p.Val461Ile)
c.1696G>A (p.Val566Ile)
c.1651G>A (p.Val551Ile)
c.1558G>A (p.Val520Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.36219944A>CCA464494994CLTA,GNEc.1803T>G (p.Leu601=)
c.1533T>G (p.Leu511=)
c.1710T>G (p.Leu570=)
c.1488T>G (p.Leu496=)
c.485+15765A>C (n.485+15765A>C)
c.1380T>G (p.Leu460=)
c.1695T>G (p.Leu565=)
c.1650T>G (p.Leu550=)
c.1557T>G (p.Leu519=)
9g.36219944A>GCA464494995CLTA,GNEc.1803T>C (p.Leu601=)
c.1533T>C (p.Leu511=)
c.1710T>C (p.Leu570=)
c.1488T>C (p.Leu496=)
c.485+15765A>G (n.485+15765A>G)
c.1380T>C (p.Leu460=)
c.1695T>C (p.Leu565=)
c.1650T>C (p.Leu550=)
c.1557T>C (p.Leu519=)
9g.36219944A>TCA464494996CLTA,GNEc.1803T>A (p.Leu601=)
c.1533T>A (p.Leu511=)
c.1710T>A (p.Leu570=)
c.1488T>A (p.Leu496=)
c.485+15765A>T (n.485+15765A>T)
c.1380T>A (p.Leu460=)
c.1695T>A (p.Leu565=)
c.1650T>A (p.Leu550=)
c.1557T>A (p.Leu519=)
9g.36219945A=CA1846328725CLTA,GNEc.1802T= (p.Leu601=)
c.1532T= (p.Leu511=)
c.1709T= (p.Leu570=)
c.1487T= (p.Leu496=)
c.485+15766A= (n.485+15766A=)
c.1379T= (p.Leu460=)
c.1694T= (p.Leu565=)
c.1649T= (p.Leu550=)
c.1556T= (p.Leu519=)
9g.36219945A>CCA373425695CLTA,GNEc.1802T>G (p.Leu601Arg)
c.1532T>G (p.Leu511Arg)
c.1709T>G (p.Leu570Arg)
c.1487T>G (p.Leu496Arg)
c.485+15766A>C (n.485+15766A>C)
c.1379T>G (p.Leu460Arg)
c.1694T>G (p.Leu565Arg)
c.1649T>G (p.Leu550Arg)
c.1556T>G (p.Leu519Arg)
9g.36219945A>GCA5056434CLTA,GNEc.1802T>C (p.Leu601Pro)
c.1532T>C (p.Leu511Pro)
c.1709T>C (p.Leu570Pro)
c.1487T>C (p.Leu496Pro)
c.485+15766A>G (n.485+15766A>G)
c.1379T>C (p.Leu460Pro)
c.1694T>C (p.Leu565Pro)
c.1649T>C (p.Leu550Pro)
c.1556T>C (p.Leu519Pro)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
9g.36219945A>TCA373425696CLTA,GNEc.1802T>A (p.Leu601His)
c.1532T>A (p.Leu511His)
c.1709T>A (p.Leu570His)
c.1487T>A (p.Leu496His)
c.485+15766A>T (n.485+15766A>T)
c.1379T>A (p.Leu460His)
c.1694T>A (p.Leu565His)
c.1649T>A (p.Leu550His)
c.1556T>A (p.Leu519His)
9g.36219946G>ACA373425697CLTA,GNEc.1801C>T (p.Leu601Phe)
c.1531C>T (p.Leu511Phe)
c.1708C>T (p.Leu570Phe)
c.1486C>T (p.Leu496Phe)
c.485+15767G>A (n.485+15767G>A)
c.1378C>T (p.Leu460Phe)
c.1693C>T (p.Leu565Phe)
c.1648C>T (p.Leu550Phe)
c.1555C>T (p.Leu519Phe)
9g.36219946G>CCA5056435CLTA,GNEc.1801C>G (p.Leu601Val)
c.1531C>G (p.Leu511Val)
c.1708C>G (p.Leu570Val)
c.1486C>G (p.Leu496Val)
c.485+15767G>C (n.485+15767G>C)
c.1378C>G (p.Leu460Val)
c.1693C>G (p.Leu565Val)
c.1648C>G (p.Leu550Val)
c.1555C>G (p.Leu519Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219946G=CA1846328733CLTA,GNEc.1801C= (p.Leu601=)
c.1531C= (p.Leu511=)
c.1708C= (p.Leu570=)
c.1486C= (p.Leu496=)
c.485+15767G= (n.485+15767G=)
c.1378C= (p.Leu460=)
c.1693C= (p.Leu565=)
c.1648C= (p.Leu550=)
c.1555C= (p.Leu519=)
9g.36219946G>TCA373425698CLTA,GNEc.1801C>A (p.Leu601Ile)
c.1531C>A (p.Leu511Ile)
c.1708C>A (p.Leu570Ile)
c.1486C>A (p.Leu496Ile)
c.485+15767G>T (n.485+15767G>T)
c.1378C>A (p.Leu460Ile)
c.1693C>A (p.Leu565Ile)
c.1648C>A (p.Leu550Ile)
c.1555C>A (p.Leu519Ile)
9g.36219947G>ACA464494997CLTA,GNEc.1800C>T (p.His600=)
c.1530C>T (p.His510=)
c.1707C>T (p.His569=)
c.1485C>T (p.His495=)
c.485+15768G>A (n.485+15768G>A)
c.1377C>T (p.His459=)
c.1692C>T (p.His564=)
c.1647C>T (p.His549=)
c.1554C>T (p.His518=)
 gnomAD v4
9g.36219947G>CCA373425699CLTA,GNEc.1800C>G (p.His600Gln)
c.1530C>G (p.His510Gln)
c.1707C>G (p.His569Gln)
c.1485C>G (p.His495Gln)
c.485+15768G>C (n.485+15768G>C)
c.1377C>G (p.His459Gln)
c.1692C>G (p.His564Gln)
c.1647C>G (p.His549Gln)
c.1554C>G (p.His518Gln)
9g.36219947G>TCA373425700CLTA,GNEc.1800C>A (p.His600Gln)
c.1530C>A (p.His510Gln)
c.1707C>A (p.His569Gln)
c.1485C>A (p.His495Gln)
c.485+15768G>T (n.485+15768G>T)
c.1377C>A (p.His459Gln)
c.1692C>A (p.His564Gln)
c.1647C>A (p.His549Gln)
c.1554C>A (p.His518Gln)
9g.36219948T>ACA373425702CLTA,GNEc.1799A>T (p.His600Leu)
c.1529A>T (p.His510Leu)
c.1706A>T (p.His569Leu)
c.1484A>T (p.His495Leu)
c.485+15769T>A (n.485+15769T>A)
c.1376A>T (p.His459Leu)
c.1691A>T (p.His564Leu)
c.1646A>T (p.His549Leu)
c.1553A>T (p.His518Leu)
9g.36219948T>CCA373425703CLTA,GNEc.1799A>G (p.His600Arg)
c.1529A>G (p.His510Arg)
c.1706A>G (p.His569Arg)
c.1484A>G (p.His495Arg)
c.485+15769T>C (n.485+15769T>C)
c.1376A>G (p.His459Arg)
c.1691A>G (p.His564Arg)
c.1646A>G (p.His549Arg)
c.1553A>G (p.His518Arg)
9g.36219948T>GCA373425701CLTA,GNEc.1799A>C (p.His600Pro)
c.1529A>C (p.His510Pro)
c.1706A>C (p.His569Pro)
c.1484A>C (p.His495Pro)
c.485+15769T>G (n.485+15769T>G)
c.1376A>C (p.His459Pro)
c.1691A>C (p.His564Pro)
c.1646A>C (p.His549Pro)
c.1553A>C (p.His518Pro)
9g.36219949G>ACA373425704CLTA,GNEc.1798C>T (p.His600Tyr)
c.1528C>T (p.His510Tyr)
c.1705C>T (p.His569Tyr)
c.1483C>T (p.His495Tyr)
c.485+15770G>A (n.485+15770G>A)
c.1375C>T (p.His459Tyr)
c.1690C>T (p.His564Tyr)
c.1645C>T (p.His549Tyr)
c.1552C>T (p.His518Tyr)
 dbSNP gnomAD v2 gnomAD v4
9g.36219949G>CCA373425705CLTA,GNEc.1798C>G (p.His600Asp)
c.1528C>G (p.His510Asp)
c.1705C>G (p.His569Asp)
c.1483C>G (p.His495Asp)
c.485+15770G>C (n.485+15770G>C)
c.1375C>G (p.His459Asp)
c.1690C>G (p.His564Asp)
c.1645C>G (p.His549Asp)
c.1552C>G (p.His518Asp)
9g.36219949G=CA1846328739CLTA,GNEc.1798C= (p.His600=)
c.1528C= (p.His510=)
c.1705C= (p.His569=)
c.1483C= (p.His495=)
c.485+15770G= (n.485+15770G=)
c.1375C= (p.His459=)
c.1690C= (p.His564=)
c.1645C= (p.His549=)
c.1552C= (p.His518=)
9g.36219949G>TCA373425706CLTA,GNEc.1798C>A (p.His600Asn)
c.1528C>A (p.His510Asn)
c.1705C>A (p.His569Asn)
c.1483C>A (p.His495Asn)
c.485+15770G>T (n.485+15770G>T)
c.1375C>A (p.His459Asn)
c.1690C>A (p.His564Asn)
c.1645C>A (p.His549Asn)
c.1552C>A (p.His518Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219950G>ACA464494998CLTA,GNEc.1797C>T (p.Gly599=)
c.1527C>T (p.Gly509=)
c.1704C>T (p.Gly568=)
c.1482C>T (p.Gly494=)
c.485+15771G>A (n.485+15771G>A)
c.1374C>T (p.Gly458=)
c.1689C>T (p.Gly563=)
c.1644C>T (p.Gly548=)
c.1551C>T (p.Gly517=)
9g.36219950G>CCA464494999CLTA,GNEc.1797C>G (p.Gly599=)
c.1527C>G (p.Gly509=)
c.1704C>G (p.Gly568=)
c.1482C>G (p.Gly494=)
c.485+15771G>C (n.485+15771G>C)
c.1374C>G (p.Gly458=)
c.1689C>G (p.Gly563=)
c.1644C>G (p.Gly548=)
c.1551C>G (p.Gly517=)
9g.36219950G>TCA464495000CLTA,GNEc.1797C>A (p.Gly599=)
c.1527C>A (p.Gly509=)
c.1704C>A (p.Gly568=)
c.1482C>A (p.Gly494=)
c.485+15771G>T (n.485+15771G>T)
c.1374C>A (p.Gly458=)
c.1689C>A (p.Gly563=)
c.1644C>A (p.Gly548=)
c.1551C>A (p.Gly517=)
9g.36219951C>ACA373425707CLTA,GNEc.1796G>T (p.Gly599Val)
c.1526G>T (p.Gly509Val)
c.1703G>T (p.Gly568Val)
c.1481G>T (p.Gly494Val)
c.485+15772C>A (n.485+15772C>A)
c.1373G>T (p.Gly458Val)
c.1688G>T (p.Gly563Val)
c.1643G>T (p.Gly548Val)
c.1550G>T (p.Gly517Val)
 ClinVar
9g.36219951C=CA1846328747CLTA,GNEc.1796G= (p.Gly599=)
c.1526G= (p.Gly509=)
c.1703G= (p.Gly568=)
c.1481G= (p.Gly494=)
c.485+15772C= (n.485+15772C=)
c.1373G= (p.Gly458=)
c.1688G= (p.Gly563=)
c.1643G= (p.Gly548=)
c.1550G= (p.Gly517=)
9g.36219951C>GCA373425708CLTA,GNEc.1796G>C (p.Gly599Ala)
c.1526G>C (p.Gly509Ala)
c.1703G>C (p.Gly568Ala)
c.1481G>C (p.Gly494Ala)
c.485+15772C>G (n.485+15772C>G)
c.1373G>C (p.Gly458Ala)
c.1688G>C (p.Gly563Ala)
c.1643G>C (p.Gly548Ala)
c.1550G>C (p.Gly517Ala)
 ClinVar dbSNP gnomAD v4
9g.36219951C>TCA373425709CLTA,GNEc.1796G>A (p.Gly599Asp)
c.1526G>A (p.Gly509Asp)
c.1703G>A (p.Gly568Asp)
c.1481G>A (p.Gly494Asp)
c.485+15772C>T (n.485+15772C>T)
c.1373G>A (p.Gly458Asp)
c.1688G>A (p.Gly563Asp)
c.1643G>A (p.Gly548Asp)
c.1550G>A (p.Gly517Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.36219952C>ACA373425710CLTA,GNEc.1795G>T (p.Gly599Cys)
c.1525G>T (p.Gly509Cys)
c.1702G>T (p.Gly568Cys)
c.1480G>T (p.Gly494Cys)
c.485+15773C>A (n.485+15773C>A)
c.1372G>T (p.Gly458Cys)
c.1687G>T (p.Gly563Cys)
c.1642G>T (p.Gly548Cys)
c.1549G>T (p.Gly517Cys)
9g.36219952C>GCA373425712CLTA,GNEc.1795G>C (p.Gly599Arg)
c.1525G>C (p.Gly509Arg)
c.1702G>C (p.Gly568Arg)
c.1480G>C (p.Gly494Arg)
c.485+15773C>G (n.485+15773C>G)
c.1372G>C (p.Gly458Arg)
c.1687G>C (p.Gly563Arg)
c.1642G>C (p.Gly548Arg)
c.1549G>C (p.Gly517Arg)
9g.36219952C>TCA373425711CLTA,GNEc.1795G>A (p.Gly599Ser)
c.1525G>A (p.Gly509Ser)
c.1702G>A (p.Gly568Ser)
c.1480G>A (p.Gly494Ser)
c.485+15773C>T (n.485+15773C>T)
c.1372G>A (p.Gly458Ser)
c.1687G>A (p.Gly563Ser)
c.1642G>A (p.Gly548Ser)
c.1549G>A (p.Gly517Ser)
9g.36219953C>ACA464495001CLTA,GNEc.1794G>T (p.Leu598=)
c.1524G>T (p.Leu508=)
c.1701G>T (p.Leu567=)
c.1479G>T (p.Leu493=)
c.485+15774C>A (n.485+15774C>A)
c.1371G>T (p.Leu457=)
c.1686G>T (p.Leu562=)
c.1641G>T (p.Leu547=)
c.1548G>T (p.Leu516=)
9g.36219953C>GCA464495003CLTA,GNEc.1794G>C (p.Leu598=)
c.1524G>C (p.Leu508=)
c.1701G>C (p.Leu567=)
c.1479G>C (p.Leu493=)
c.485+15774C>G (n.485+15774C>G)
c.1371G>C (p.Leu457=)
c.1686G>C (p.Leu562=)
c.1641G>C (p.Leu547=)
c.1548G>C (p.Leu516=)
9g.36219953C>TCA464495002CLTA,GNEc.1794G>A (p.Leu598=)
c.1524G>A (p.Leu508=)
c.1701G>A (p.Leu567=)
c.1479G>A (p.Leu493=)
c.485+15774C>T (n.485+15774C>T)
c.1371G>A (p.Leu457=)
c.1686G>A (p.Leu562=)
c.1641G>A (p.Leu547=)
c.1548G>A (p.Leu516=)
9g.36219954A>CCA373425713CLTA,GNEc.1793T>G (p.Leu598Arg)
c.1523T>G (p.Leu508Arg)
c.1700T>G (p.Leu567Arg)
c.1478T>G (p.Leu493Arg)
c.485+15775A>C (n.485+15775A>C)
c.1370T>G (p.Leu457Arg)
c.1685T>G (p.Leu562Arg)
c.1640T>G (p.Leu547Arg)
c.1547T>G (p.Leu516Arg)
9g.36219954A>GCA373425714CLTA,GNEc.1793T>C (p.Leu598Pro)
c.1523T>C (p.Leu508Pro)
c.1700T>C (p.Leu567Pro)
c.1478T>C (p.Leu493Pro)
c.485+15775A>G (n.485+15775A>G)
c.1370T>C (p.Leu457Pro)
c.1685T>C (p.Leu562Pro)
c.1640T>C (p.Leu547Pro)
c.1547T>C (p.Leu516Pro)
9g.36219954A>TCA373425715CLTA,GNEc.1793T>A (p.Leu598Gln)
c.1523T>A (p.Leu508Gln)
c.1700T>A (p.Leu567Gln)
c.1478T>A (p.Leu493Gln)
c.485+15775A>T (n.485+15775A>T)
c.1370T>A (p.Leu457Gln)
c.1685T>A (p.Leu562Gln)
c.1640T>A (p.Leu547Gln)
c.1547T>A (p.Leu516Gln)
9g.36219955G>ACA464495004CLTA,GNEc.1792C>T (p.Leu598=)
c.1522C>T (p.Leu508=)
c.1699C>T (p.Leu567=)
c.1477C>T (p.Leu493=)
c.485+15776G>A (n.485+15776G>A)
c.1369C>T (p.Leu457=)
c.1684C>T (p.Leu562=)
c.1639C>T (p.Leu547=)
c.1546C>T (p.Leu516=)
9g.36219955G>CCA373425716CLTA,GNEc.1792C>G (p.Leu598Val)
c.1522C>G (p.Leu508Val)
c.1699C>G (p.Leu567Val)
c.1477C>G (p.Leu493Val)
c.485+15776G>C (n.485+15776G>C)
c.1369C>G (p.Leu457Val)
c.1684C>G (p.Leu562Val)
c.1639C>G (p.Leu547Val)
c.1546C>G (p.Leu516Val)
9g.36219955G>TCA373425717CLTA,GNEc.1792C>A (p.Leu598Met)
c.1522C>A (p.Leu508Met)
c.1699C>A (p.Leu567Met)
c.1477C>A (p.Leu493Met)
c.485+15776G>T (n.485+15776G>T)
c.1369C>A (p.Leu457Met)
c.1684C>A (p.Leu562Met)
c.1639C>A (p.Leu547Met)
c.1546C>A (p.Leu516Met)
9g.36219956T>ACA373425719CLTA,GNEc.1791A>T (p.Glu597Asp)
c.1521A>T (p.Glu507Asp)
c.1698A>T (p.Glu566Asp)
c.1476A>T (p.Glu492Asp)
c.485+15777T>A (n.485+15777T>A)
c.1368A>T (p.Glu456Asp)
c.1683A>T (p.Glu561Asp)
c.1638A>T (p.Glu546Asp)
c.1545A>T (p.Glu515Asp)
9g.36219956T>CCA464495005CLTA,GNEc.1791A>G (p.Glu597=)
c.1521A>G (p.Glu507=)
c.1698A>G (p.Glu566=)
c.1476A>G (p.Glu492=)
c.485+15777T>C (n.485+15777T>C)
c.1368A>G (p.Glu456=)
c.1683A>G (p.Glu561=)
c.1638A>G (p.Glu546=)
c.1545A>G (p.Glu515=)
9g.36219956T>GCA373425718CLTA,GNEc.1791A>C (p.Glu597Asp)
c.1521A>C (p.Glu507Asp)
c.1698A>C (p.Glu566Asp)
c.1476A>C (p.Glu492Asp)
c.485+15777T>G (n.485+15777T>G)
c.1368A>C (p.Glu456Asp)
c.1683A>C (p.Glu561Asp)
c.1638A>C (p.Glu546Asp)
c.1545A>C (p.Glu515Asp)
9g.36219957T>ACA373425720CLTA,GNEc.1790A>T (p.Glu597Val)
c.1520A>T (p.Glu507Val)
c.1697A>T (p.Glu566Val)
c.1475A>T (p.Glu492Val)
c.485+15778T>A (n.485+15778T>A)
c.1367A>T (p.Glu456Val)
c.1682A>T (p.Glu561Val)
c.1637A>T (p.Glu546Val)
c.1544A>T (p.Glu515Val)
9g.36219957T>CCA373425721CLTA,GNEc.1790A>G (p.Glu597Gly)
c.1520A>G (p.Glu507Gly)
c.1697A>G (p.Glu566Gly)
c.1475A>G (p.Glu492Gly)
c.485+15778T>C (n.485+15778T>C)
c.1367A>G (p.Glu456Gly)
c.1682A>G (p.Glu561Gly)
c.1637A>G (p.Glu546Gly)
c.1544A>G (p.Glu515Gly)
9g.36219957T>GCA373425722CLTA,GNEc.1790A>C (p.Glu597Ala)
c.1520A>C (p.Glu507Ala)
c.1697A>C (p.Glu566Ala)
c.1475A>C (p.Glu492Ala)
c.485+15778T>G (n.485+15778T>G)
c.1367A>C (p.Glu456Ala)
c.1682A>C (p.Glu561Ala)
c.1637A>C (p.Glu546Ala)
c.1544A>C (p.Glu515Ala)
9g.36219958C>ACA373425723CLTA,GNEc.1789G>T (p.Glu597Ter)
c.1519G>T (p.Glu507Ter)
c.1696G>T (p.Glu566Ter)
c.1474G>T (p.Glu492Ter)
c.485+15779C>A (n.485+15779C>A)
c.1366G>T (p.Glu456Ter)
c.1681G>T (p.Glu561Ter)
c.1636G>T (p.Glu546Ter)
c.1543G>T (p.Glu515Ter)
9g.36219958C=CA1846328752CLTA,GNEc.1789G= (p.Glu597=)
c.1519G= (p.Glu507=)
c.1696G= (p.Glu566=)
c.1474G= (p.Glu492=)
c.485+15779C= (n.485+15779C=)
c.1366G= (p.Glu456=)
c.1681G= (p.Glu561=)
c.1636G= (p.Glu546=)
c.1543G= (p.Glu515=)
9g.36219958C>GCA373425724CLTA,GNEc.1789G>C (p.Glu597Gln)
c.1519G>C (p.Glu507Gln)
c.1696G>C (p.Glu566Gln)
c.1474G>C (p.Glu492Gln)
c.485+15779C>G (n.485+15779C>G)
c.1366G>C (p.Glu456Gln)
c.1681G>C (p.Glu561Gln)
c.1636G>C (p.Glu546Gln)
c.1543G>C (p.Glu515Gln)
 dbSNP gnomAD v2
9g.36219958C>TCA373425725CLTA,GNEc.1789G>A (p.Glu597Lys)
c.1519G>A (p.Glu507Lys)
c.1696G>A (p.Glu566Lys)
c.1474G>A (p.Glu492Lys)
c.485+15779C>T (n.485+15779C>T)
c.1366G>A (p.Glu456Lys)
c.1681G>A (p.Glu561Lys)
c.1636G>A (p.Glu546Lys)
c.1543G>A (p.Glu515Lys)
9g.36219959T>ACA464495006CLTA,GNEc.1788A>T (p.Ala596=)
c.1518A>T (p.Ala506=)
c.1695A>T (p.Ala565=)
c.1473A>T (p.Ala491=)
c.485+15780T>A (n.485+15780T>A)
c.1365A>T (p.Ala455=)
c.1680A>T (p.Ala560=)
c.1635A>T (p.Ala545=)
c.1542A>T (p.Ala514=)
9g.36219959T>CCA464495007CLTA,GNEc.1788A>G (p.Ala596=)
c.1518A>G (p.Ala506=)
c.1695A>G (p.Ala565=)
c.1473A>G (p.Ala491=)
c.485+15780T>C (n.485+15780T>C)
c.1365A>G (p.Ala455=)
c.1680A>G (p.Ala560=)
c.1635A>G (p.Ala545=)
c.1542A>G (p.Ala514=)
9g.36219959T>GCA464495008CLTA,GNEc.1788A>C (p.Ala596=)
c.1518A>C (p.Ala506=)
c.1695A>C (p.Ala565=)
c.1473A>C (p.Ala491=)
c.485+15780T>G (n.485+15780T>G)
c.1365A>C (p.Ala455=)
c.1680A>C (p.Ala560=)
c.1635A>C (p.Ala545=)
c.1542A>C (p.Ala514=)
9g.36219960G>ACA373425728CLTA,GNEc.1787C>T (p.Ala596Val)
c.1517C>T (p.Ala506Val)
c.1694C>T (p.Ala565Val)
c.1472C>T (p.Ala491Val)
c.485+15781G>A (n.485+15781G>A)
c.1364C>T (p.Ala455Val)
c.1679C>T (p.Ala560Val)
c.1634C>T (p.Ala545Val)
c.1541C>T (p.Ala514Val)
9g.36219960G>CCA373425727CLTA,GNEc.1787C>G (p.Ala596Gly)
c.1517C>G (p.Ala506Gly)
c.1694C>G (p.Ala565Gly)
c.1472C>G (p.Ala491Gly)
c.485+15781G>C (n.485+15781G>C)
c.1364C>G (p.Ala455Gly)
c.1679C>G (p.Ala560Gly)
c.1634C>G (p.Ala545Gly)
c.1541C>G (p.Ala514Gly)
9g.36219960G>TCA373425726CLTA,GNEc.1787C>A (p.Ala596Glu)
c.1517C>A (p.Ala506Glu)
c.1694C>A (p.Ala565Glu)
c.1472C>A (p.Ala491Glu)
c.485+15781G>T (n.485+15781G>T)
c.1364C>A (p.Ala455Glu)
c.1679C>A (p.Ala560Glu)
c.1634C>A (p.Ala545Glu)
c.1541C>A (p.Ala514Glu)
9g.36219961C>ACA373425729CLTA,GNEc.1786G>T (p.Ala596Ser)
c.1516G>T (p.Ala506Ser)
c.1693G>T (p.Ala565Ser)
c.1471G>T (p.Ala491Ser)
c.485+15782C>A (n.485+15782C>A)
c.1363G>T (p.Ala455Ser)
c.1678G>T (p.Ala560Ser)
c.1633G>T (p.Ala545Ser)
c.1540G>T (p.Ala514Ser)
9g.36219961C>GCA373425730CLTA,GNEc.1786G>C (p.Ala596Pro)
c.1516G>C (p.Ala506Pro)
c.1693G>C (p.Ala565Pro)
c.1471G>C (p.Ala491Pro)
c.485+15782C>G (n.485+15782C>G)
c.1363G>C (p.Ala455Pro)
c.1678G>C (p.Ala560Pro)
c.1633G>C (p.Ala545Pro)
c.1540G>C (p.Ala514Pro)
9g.36219961C>TCA373425731CLTA,GNEc.1786G>A (p.Ala596Thr)
c.1516G>A (p.Ala506Thr)
c.1693G>A (p.Ala565Thr)
c.1471G>A (p.Ala491Thr)
c.485+15782C>T (n.485+15782C>T)
c.1363G>A (p.Ala455Thr)
c.1678G>A (p.Ala560Thr)
c.1633G>A (p.Ala545Thr)
c.1540G>A (p.Ala514Thr)
 gnomAD v4
9g.36219962A=CA1846328754CLTA,GNEc.1785T= (p.Ala595=)
c.1515T= (p.Ala505=)
c.1692T= (p.Ala564=)
c.1470T= (p.Ala490=)
c.485+15783A= (n.485+15783A=)
c.1362T= (p.Ala454=)
c.1677T= (p.Ala559=)
c.1632T= (p.Ala544=)
c.1539T= (p.Ala513=)
9g.36219962A>CCA464495010CLTA,GNEc.1785T>G (p.Ala595=)
c.1515T>G (p.Ala505=)
c.1692T>G (p.Ala564=)
c.1470T>G (p.Ala490=)
c.485+15783A>C (n.485+15783A>C)
c.1362T>G (p.Ala454=)
c.1677T>G (p.Ala559=)
c.1632T>G (p.Ala544=)
c.1539T>G (p.Ala513=)
 ClinVar dbSNP gnomAD v4
9g.36219962A>GCA464495011CLTA,GNEc.1785T>C (p.Ala595=)
c.1515T>C (p.Ala505=)
c.1692T>C (p.Ala564=)
c.1470T>C (p.Ala490=)
c.485+15783A>G (n.485+15783A>G)
c.1362T>C (p.Ala454=)
c.1677T>C (p.Ala559=)
c.1632T>C (p.Ala544=)
c.1539T>C (p.Ala513=)
9g.36219962A>TCA464495009CLTA,GNEc.1785T>A (p.Ala595=)
c.1515T>A (p.Ala505=)
c.1692T>A (p.Ala564=)
c.1470T>A (p.Ala490=)
c.485+15783A>T (n.485+15783A>T)
c.1362T>A (p.Ala454=)
c.1677T>A (p.Ala559=)
c.1632T>A (p.Ala544=)
c.1539T>A (p.Ala513=)
9g.36219963G>ACA373425732CLTA,GNEc.1784C>T (p.Ala595Val)
c.1514C>T (p.Ala505Val)
c.1691C>T (p.Ala564Val)
c.1469C>T (p.Ala490Val)
c.485+15784G>A (n.485+15784G>A)
c.1361C>T (p.Ala454Val)
c.1676C>T (p.Ala559Val)
c.1631C>T (p.Ala544Val)
c.1538C>T (p.Ala513Val)
9g.36219963G>CCA373425733CLTA,GNEc.1784C>G (p.Ala595Gly)
c.1514C>G (p.Ala505Gly)
c.1691C>G (p.Ala564Gly)
c.1469C>G (p.Ala490Gly)
c.485+15784G>C (n.485+15784G>C)
c.1361C>G (p.Ala454Gly)
c.1676C>G (p.Ala559Gly)
c.1631C>G (p.Ala544Gly)
c.1538C>G (p.Ala513Gly)
9g.36219963G>TCA373425734CLTA,GNEc.1784C>A (p.Ala595Asp)
c.1514C>A (p.Ala505Asp)
c.1691C>A (p.Ala564Asp)
c.1469C>A (p.Ala490Asp)
c.485+15784G>T (n.485+15784G>T)
c.1361C>A (p.Ala454Asp)
c.1676C>A (p.Ala559Asp)
c.1631C>A (p.Ala544Asp)
c.1538C>A (p.Ala513Asp)
 gnomAD v4
9g.36219964delCA2499219907CLTA,GNEc.1783del (p.Ala595LeufsTer?)
c.1513del (p.Ala505LeufsTer?)
c.1690del (p.Ala564LeufsTer?)
c.1468del (p.Ala490LeufsTer?)
c.485+15785del (n.485+15785del)
c.1360del (p.Ala454LeufsTer?)
c.1675del (p.Ala559LeufsTer?)
c.1630del (p.Ala544LeufsTer?)
c.1537del (p.Ala513LeufsTer?)
 ClinVar dbSNP
9g.36219964C>ACA373425735CLTA,GNEc.1783G>T (p.Ala595Ser)
c.1513G>T (p.Ala505Ser)
c.1690G>T (p.Ala564Ser)
c.1468G>T (p.Ala490Ser)
c.485+15785C>A (n.485+15785C>A)
c.1360G>T (p.Ala454Ser)
c.1675G>T (p.Ala559Ser)
c.1630G>T (p.Ala544Ser)
c.1537G>T (p.Ala513Ser)
9g.36219964C>GCA373425737CLTA,GNEc.1783G>C (p.Ala595Pro)
c.1513G>C (p.Ala505Pro)
c.1690G>C (p.Ala564Pro)
c.1468G>C (p.Ala490Pro)
c.485+15785C>G (n.485+15785C>G)
c.1360G>C (p.Ala454Pro)
c.1675G>C (p.Ala559Pro)
c.1630G>C (p.Ala544Pro)
c.1537G>C (p.Ala513Pro)
9g.36219964C>TCA373425736CLTA,GNEc.1783G>A (p.Ala595Thr)
c.1513G>A (p.Ala505Thr)
c.1690G>A (p.Ala564Thr)
c.1468G>A (p.Ala490Thr)
c.485+15785C>T (n.485+15785C>T)
c.1360G>A (p.Ala454Thr)
c.1675G>A (p.Ala559Thr)
c.1630G>A (p.Ala544Thr)
c.1537G>A (p.Ala513Thr)
9g.36219965A=CA1846328757CLTA,GNEc.1782T= (p.Cys594=)
c.1512T= (p.Cys504=)
c.1689T= (p.Cys563=)
c.1467T= (p.Cys489=)
c.485+15786A= (n.485+15786A=)
c.1359T= (p.Cys453=)
c.1674T= (p.Cys558=)
c.1629T= (p.Cys543=)
c.1536T= (p.Cys512=)
9g.36219965A>CCA373425738CLTA,GNEc.1782T>G (p.Cys594Trp)
c.1512T>G (p.Cys504Trp)
c.1689T>G (p.Cys563Trp)
c.1467T>G (p.Cys489Trp)
c.485+15786A>C (n.485+15786A>C)
c.1359T>G (p.Cys453Trp)
c.1674T>G (p.Cys558Trp)
c.1629T>G (p.Cys543Trp)
c.1536T>G (p.Cys512Trp)
9g.36219965A>GCA5056436CLTA,GNEc.1782T>C (p.Cys594=)
c.1512T>C (p.Cys504=)
c.1689T>C (p.Cys563=)
c.1467T>C (p.Cys489=)
c.485+15786A>G (n.485+15786A>G)
c.1359T>C (p.Cys453=)
c.1674T>C (p.Cys558=)
c.1629T>C (p.Cys543=)
c.1536T>C (p.Cys512=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219965A>TCA373425739CLTA,GNEc.1782T>A (p.Cys594Ter)
c.1512T>A (p.Cys504Ter)
c.1689T>A (p.Cys563Ter)
c.1467T>A (p.Cys489Ter)
c.485+15786A>T (n.485+15786A>T)
c.1359T>A (p.Cys453Ter)
c.1674T>A (p.Cys558Ter)
c.1629T>A (p.Cys543Ter)
c.1536T>A (p.Cys512Ter)
9g.36219966C>ACA373425741CLTA,GNEc.1781G>T (p.Cys594Phe)
c.1511G>T (p.Cys504Phe)
c.1688G>T (p.Cys563Phe)
c.1466G>T (p.Cys489Phe)
c.485+15787C>A (n.485+15787C>A)
c.1358G>T (p.Cys453Phe)
c.1673G>T (p.Cys558Phe)
c.1628G>T (p.Cys543Phe)
c.1535G>T (p.Cys512Phe)
9g.36219966C>GCA373425743CLTA,GNEc.1781G>C (p.Cys594Ser)
c.1511G>C (p.Cys504Ser)
c.1688G>C (p.Cys563Ser)
c.1466G>C (p.Cys489Ser)
c.485+15787C>G (n.485+15787C>G)
c.1358G>C (p.Cys453Ser)
c.1673G>C (p.Cys558Ser)
c.1628G>C (p.Cys543Ser)
c.1535G>C (p.Cys512Ser)
9g.36219966C>TCA373425745CLTA,GNEc.1781G>A (p.Cys594Tyr)
c.1511G>A (p.Cys504Tyr)
c.1688G>A (p.Cys563Tyr)
c.1466G>A (p.Cys489Tyr)
c.485+15787C>T (n.485+15787C>T)
c.1358G>A (p.Cys453Tyr)
c.1673G>A (p.Cys558Tyr)
c.1628G>A (p.Cys543Tyr)
c.1535G>A (p.Cys512Tyr)
9g.36219967A>CCA373425747CLTA,GNEc.1780T>G (p.Cys594Gly)
c.1510T>G (p.Cys504Gly)
c.1687T>G (p.Cys563Gly)
c.1465T>G (p.Cys489Gly)
c.485+15788A>C (n.485+15788A>C)
c.1357T>G (p.Cys453Gly)
c.1672T>G (p.Cys558Gly)
c.1627T>G (p.Cys543Gly)
c.1534T>G (p.Cys512Gly)
9g.36219967A>GCA373425748CLTA,GNEc.1780T>C (p.Cys594Arg)
c.1510T>C (p.Cys504Arg)
c.1687T>C (p.Cys563Arg)
c.1465T>C (p.Cys489Arg)
c.485+15788A>G (n.485+15788A>G)
c.1357T>C (p.Cys453Arg)
c.1672T>C (p.Cys558Arg)
c.1627T>C (p.Cys543Arg)
c.1534T>C (p.Cys512Arg)
9g.36219967A>TCA373425750CLTA,GNEc.1780T>A (p.Cys594Ser)
c.1510T>A (p.Cys504Ser)
c.1687T>A (p.Cys563Ser)
c.1465T>A (p.Cys489Ser)
c.485+15788A>T (n.485+15788A>T)
c.1357T>A (p.Cys453Ser)
c.1672T>A (p.Cys558Ser)
c.1627T>A (p.Cys543Ser)
c.1534T>A (p.Cys512Ser)
9g.36219967_36219968delinsAGCA1846328780CLTA,GNEc.1779_1780delinsCT (p.Phe593=)
c.1509_1510delinsCT (p.Phe503=)
c.1686_1687delinsCT (p.Phe562=)
c.1464_1465delinsCT (p.Phe488=)
c.485+15788_485+15789delinsAG (n.485+15788_485+15789delinsAG)
c.1356_1357delinsCT (p.Phe452=)
c.1671_1672delinsCT (p.Phe557=)
c.1626_1627delinsCT (p.Phe542=)
c.1533_1534delinsCT (p.Phe511=)
9g.36219968delCA10606772CLTA,GNEc.1779del (p.Cys594ValfsTer?)
c.1509del (p.Cys504ValfsTer?)
c.1686del (p.Cys563ValfsTer?)
c.1464del (p.Cys489ValfsTer?)
c.485+15789del (n.485+15789del)
c.1356del (p.Cys453ValfsTer?)
c.1671del (p.Cys558ValfsTer?)
c.1626del (p.Cys543ValfsTer?)
c.1533del (p.Cys512ValfsTer?)
 ClinVar dbSNP
9g.36219968G>ACA464495012CLTA,GNEc.1779C>T (p.Phe593=)
c.1509C>T (p.Phe503=)
c.1686C>T (p.Phe562=)
c.1464C>T (p.Phe488=)
c.485+15789G>A (n.485+15789G>A)
c.1356C>T (p.Phe452=)
c.1671C>T (p.Phe557=)
c.1626C>T (p.Phe542=)
c.1533C>T (p.Phe511=)
9g.36219968G>CCA373425752CLTA,GNEc.1779C>G (p.Phe593Leu)
c.1509C>G (p.Phe503Leu)
c.1686C>G (p.Phe562Leu)
c.1464C>G (p.Phe488Leu)
c.485+15789G>C (n.485+15789G>C)
c.1356C>G (p.Phe452Leu)
c.1671C>G (p.Phe557Leu)
c.1626C>G (p.Phe542Leu)
c.1533C>G (p.Phe511Leu)
 gnomAD v4
9g.36219968G>TCA373425754CLTA,GNEc.1779C>A (p.Phe593Leu)
c.1509C>A (p.Phe503Leu)
c.1686C>A (p.Phe562Leu)
c.1464C>A (p.Phe488Leu)
c.485+15789G>T (n.485+15789G>T)
c.1356C>A (p.Phe452Leu)
c.1671C>A (p.Phe557Leu)
c.1626C>A (p.Phe542Leu)
c.1533C>A (p.Phe511Leu)
9g.36219969A>CCA373425755CLTA,GNEc.1778T>G (p.Phe593Cys)
c.1508T>G (p.Phe503Cys)
c.1685T>G (p.Phe562Cys)
c.1463T>G (p.Phe488Cys)
c.485+15790A>C (n.485+15790A>C)
c.1355T>G (p.Phe452Cys)
c.1670T>G (p.Phe557Cys)
c.1625T>G (p.Phe542Cys)
c.1532T>G (p.Phe511Cys)
9g.36219969A>GCA373425759CLTA,GNEc.1778T>C (p.Phe593Ser)
c.1508T>C (p.Phe503Ser)
c.1685T>C (p.Phe562Ser)
c.1463T>C (p.Phe488Ser)
c.485+15790A>G (n.485+15790A>G)
c.1355T>C (p.Phe452Ser)
c.1670T>C (p.Phe557Ser)
c.1625T>C (p.Phe542Ser)
c.1532T>C (p.Phe511Ser)
9g.36219969A>TCA373425757CLTA,GNEc.1778T>A (p.Phe593Tyr)
c.1508T>A (p.Phe503Tyr)
c.1685T>A (p.Phe562Tyr)
c.1463T>A (p.Phe488Tyr)
c.485+15790A>T (n.485+15790A>T)
c.1355T>A (p.Phe452Tyr)
c.1670T>A (p.Phe557Tyr)
c.1625T>A (p.Phe542Tyr)
c.1532T>A (p.Phe511Tyr)
9g.36219970A>CCA373425761CLTA,GNEc.1777T>G (p.Phe593Val)
c.1507T>G (p.Phe503Val)
c.1684T>G (p.Phe562Val)
c.1462T>G (p.Phe488Val)
c.485+15791A>C (n.485+15791A>C)
c.1354T>G (p.Phe452Val)
c.1669T>G (p.Phe557Val)
c.1624T>G (p.Phe542Val)
c.1531T>G (p.Phe511Val)
 ClinVar
9g.36219970A>GCA373425762CLTA,GNEc.1777T>C (p.Phe593Leu)
c.1507T>C (p.Phe503Leu)
c.1684T>C (p.Phe562Leu)
c.1462T>C (p.Phe488Leu)
c.485+15791A>G (n.485+15791A>G)
c.1354T>C (p.Phe452Leu)
c.1669T>C (p.Phe557Leu)
c.1624T>C (p.Phe542Leu)
c.1531T>C (p.Phe511Leu)
9g.36219970A>TCA373425763CLTA,GNEc.1777T>A (p.Phe593Ile)
c.1507T>A (p.Phe503Ile)
c.1684T>A (p.Phe562Ile)
c.1462T>A (p.Phe488Ile)
c.485+15791A>T (n.485+15791A>T)
c.1354T>A (p.Phe452Ile)
c.1669T>A (p.Phe557Ile)
c.1624T>A (p.Phe542Ile)
c.1531T>A (p.Phe511Ile)
9g.36219971G>ACA464495013CLTA,GNEc.1776C>T (p.Ser592=)
c.1506C>T (p.Ser502=)
c.1683C>T (p.Ser561=)
c.1461C>T (p.Ser487=)
c.485+15792G>A (n.485+15792G>A)
c.1353C>T (p.Ser451=)
c.1668C>T (p.Ser556=)
c.1623C>T (p.Ser541=)
c.1530C>T (p.Ser510=)
 gnomAD v4
9g.36219971G>CCA464495014CLTA,GNEc.1776C>G (p.Ser592=)
c.1506C>G (p.Ser502=)
c.1683C>G (p.Ser561=)
c.1461C>G (p.Ser487=)
c.485+15792G>C (n.485+15792G>C)
c.1353C>G (p.Ser451=)
c.1668C>G (p.Ser556=)
c.1623C>G (p.Ser541=)
c.1530C>G (p.Ser510=)
9g.36219971G>TCA464495015CLTA,GNEc.1776C>A (p.Ser592=)
c.1506C>A (p.Ser502=)
c.1683C>A (p.Ser561=)
c.1461C>A (p.Ser487=)
c.485+15792G>T (n.485+15792G>T)
c.1353C>A (p.Ser451=)
c.1668C>A (p.Ser556=)
c.1623C>A (p.Ser541=)
c.1530C>A (p.Ser510=)
9g.36219972G>ACA373425765CLTA,GNEc.1775C>T (p.Ser592Phe)
c.1505C>T (p.Ser502Phe)
c.1682C>T (p.Ser561Phe)
c.1460C>T (p.Ser487Phe)
c.485+15793G>A (n.485+15793G>A)
c.1352C>T (p.Ser451Phe)
c.1667C>T (p.Ser556Phe)
c.1622C>T (p.Ser541Phe)
c.1529C>T (p.Ser510Phe)
 gnomAD v4
9g.36219972G>CCA373425766CLTA,GNEc.1775C>G (p.Ser592Cys)
c.1505C>G (p.Ser502Cys)
c.1682C>G (p.Ser561Cys)
c.1460C>G (p.Ser487Cys)
c.485+15793G>C (n.485+15793G>C)
c.1352C>G (p.Ser451Cys)
c.1667C>G (p.Ser556Cys)
c.1622C>G (p.Ser541Cys)
c.1529C>G (p.Ser510Cys)
9g.36219972G>TCA373425768CLTA,GNEc.1775C>A (p.Ser592Tyr)
c.1505C>A (p.Ser502Tyr)
c.1682C>A (p.Ser561Tyr)
c.1460C>A (p.Ser487Tyr)
c.485+15793G>T (n.485+15793G>T)
c.1352C>A (p.Ser451Tyr)
c.1667C>A (p.Ser556Tyr)
c.1622C>A (p.Ser541Tyr)
c.1529C>A (p.Ser510Tyr)
9g.36219973A=CA1846328792CLTA,GNEc.1774T= (p.Ser592=)
c.1504T= (p.Ser502=)
c.1681T= (p.Ser561=)
c.1459T= (p.Ser487=)
c.485+15794A= (n.485+15794A=)
c.1351T= (p.Ser451=)
c.1666T= (p.Ser556=)
c.1621T= (p.Ser541=)
c.1528T= (p.Ser510=)
9g.36219973A>CCA5056437CLTA,GNEc.1774T>G (p.Ser592Ala)
c.1504T>G (p.Ser502Ala)
c.1681T>G (p.Ser561Ala)
c.1459T>G (p.Ser487Ala)
c.485+15794A>C (n.485+15794A>C)
c.1351T>G (p.Ser451Ala)
c.1666T>G (p.Ser556Ala)
c.1621T>G (p.Ser541Ala)
c.1528T>G (p.Ser510Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219973A>GCA373425770CLTA,GNEc.1774T>C (p.Ser592Pro)
c.1504T>C (p.Ser502Pro)
c.1681T>C (p.Ser561Pro)
c.1459T>C (p.Ser487Pro)
c.485+15794A>G (n.485+15794A>G)
c.1351T>C (p.Ser451Pro)
c.1666T>C (p.Ser556Pro)
c.1621T>C (p.Ser541Pro)
c.1528T>C (p.Ser510Pro)
9g.36219973A>TCA373425771CLTA,GNEc.1774T>A (p.Ser592Thr)
c.1504T>A (p.Ser502Thr)
c.1681T>A (p.Ser561Thr)
c.1459T>A (p.Ser487Thr)
c.485+15794A>T (n.485+15794A>T)
c.1351T>A (p.Ser451Thr)
c.1666T>A (p.Ser556Thr)
c.1621T>A (p.Ser541Thr)
c.1528T>A (p.Ser510Thr)
9g.36219974G>ACA464495016CLTA,GNEc.1773C>T (p.Ser591=)
c.1503C>T (p.Ser501=)
c.1680C>T (p.Ser560=)
c.1458C>T (p.Ser486=)
c.485+15795G>A (n.485+15795G>A)
c.1350C>T (p.Ser450=)
c.1665C>T (p.Ser555=)
c.1620C>T (p.Ser540=)
c.1527C>T (p.Ser509=)
9g.36219974G>CCA373425773CLTA,GNEc.1773C>G (p.Ser591Arg)
c.1503C>G (p.Ser501Arg)
c.1680C>G (p.Ser560Arg)
c.1458C>G (p.Ser486Arg)
c.485+15795G>C (n.485+15795G>C)
c.1350C>G (p.Ser450Arg)
c.1665C>G (p.Ser555Arg)
c.1620C>G (p.Ser540Arg)
c.1527C>G (p.Ser509Arg)
9g.36219974G>TCA373425775CLTA,GNEc.1773C>A (p.Ser591Arg)
c.1503C>A (p.Ser501Arg)
c.1680C>A (p.Ser560Arg)
c.1458C>A (p.Ser486Arg)
c.485+15795G>T (n.485+15795G>T)
c.1350C>A (p.Ser450Arg)
c.1665C>A (p.Ser555Arg)
c.1620C>A (p.Ser540Arg)
c.1527C>A (p.Ser509Arg)
9g.36219975C>ACA373425780CLTA,GNEc.1772G>T (p.Ser591Ile)
c.1502G>T (p.Ser501Ile)
c.1679G>T (p.Ser560Ile)
c.1457G>T (p.Ser486Ile)
c.485+15796C>A (n.485+15796C>A)
c.1349G>T (p.Ser450Ile)
c.1664G>T (p.Ser555Ile)
c.1619G>T (p.Ser540Ile)
c.1526G>T (p.Ser509Ile)
9g.36219975C>GCA373425778CLTA,GNEc.1772G>C (p.Ser591Thr)
c.1502G>C (p.Ser501Thr)
c.1679G>C (p.Ser560Thr)
c.1457G>C (p.Ser486Thr)
c.485+15796C>G (n.485+15796C>G)
c.1349G>C (p.Ser450Thr)
c.1664G>C (p.Ser555Thr)
c.1619G>C (p.Ser540Thr)
c.1526G>C (p.Ser509Thr)
 gnomAD v4
9g.36219975C>TCA373425777CLTA,GNEc.1772G>A (p.Ser591Asn)
c.1502G>A (p.Ser501Asn)
c.1679G>A (p.Ser560Asn)
c.1457G>A (p.Ser486Asn)
c.485+15796C>T (n.485+15796C>T)
c.1349G>A (p.Ser450Asn)
c.1664G>A (p.Ser555Asn)
c.1619G>A (p.Ser540Asn)
c.1526G>A (p.Ser509Asn)
9g.36219976T>ACA373425782CLTA,GNEc.1771A>T (p.Ser591Cys)
c.1501A>T (p.Ser501Cys)
c.1678A>T (p.Ser560Cys)
c.1456A>T (p.Ser486Cys)
c.485+15797T>A (n.485+15797T>A)
c.1348A>T (p.Ser450Cys)
c.1663A>T (p.Ser555Cys)
c.1618A>T (p.Ser540Cys)
c.1525A>T (p.Ser509Cys)
9g.36219976T>CCA373425783CLTA,GNEc.1771A>G (p.Ser591Gly)
c.1501A>G (p.Ser501Gly)
c.1678A>G (p.Ser560Gly)
c.1456A>G (p.Ser486Gly)
c.485+15797T>C (n.485+15797T>C)
c.1348A>G (p.Ser450Gly)
c.1663A>G (p.Ser555Gly)
c.1618A>G (p.Ser540Gly)
c.1525A>G (p.Ser509Gly)
9g.36219976T>GCA373425785CLTA,GNEc.1771A>C (p.Ser591Arg)
c.1501A>C (p.Ser501Arg)
c.1678A>C (p.Ser560Arg)
c.1456A>C (p.Ser486Arg)
c.485+15797T>G (n.485+15797T>G)
c.1348A>C (p.Ser450Arg)
c.1663A>C (p.Ser555Arg)
c.1618A>C (p.Ser540Arg)
c.1525A>C (p.Ser509Arg)
 ClinVar
9g.36219977T>ACA464495017CLTA,GNEc.1770A>T (p.Gly590=)
c.1500A>T (p.Gly500=)
c.1677A>T (p.Gly559=)
c.1455A>T (p.Gly485=)
c.485+15798T>A (n.485+15798T>A)
c.1347A>T (p.Gly449=)
c.1662A>T (p.Gly554=)
c.1617A>T (p.Gly539=)
c.1524A>T (p.Gly508=)
9g.36219977T>CCA464495018CLTA,GNEc.1770A>G (p.Gly590=)
c.1500A>G (p.Gly500=)
c.1677A>G (p.Gly559=)
c.1455A>G (p.Gly485=)
c.485+15798T>C (n.485+15798T>C)
c.1347A>G (p.Gly449=)
c.1662A>G (p.Gly554=)
c.1617A>G (p.Gly539=)
c.1524A>G (p.Gly508=)
 dbSNP
9g.36219977T>GCA464495019CLTA,GNEc.1770A>C (p.Gly590=)
c.1500A>C (p.Gly500=)
c.1677A>C (p.Gly559=)
c.1455A>C (p.Gly485=)
c.485+15798T>G (n.485+15798T>G)
c.1347A>C (p.Gly449=)
c.1662A>C (p.Gly554=)
c.1617A>C (p.Gly539=)
c.1524A>C (p.Gly508=)
9g.36219978C>ACA373425786CLTA,GNEc.1769G>T (p.Gly590Val)
c.1499G>T (p.Gly500Val)
c.1676G>T (p.Gly559Val)
c.1454G>T (p.Gly485Val)
c.485+15799C>A (n.485+15799C>A)
c.1346G>T (p.Gly449Val)
c.1661G>T (p.Gly554Val)
c.1616G>T (p.Gly539Val)
c.1523G>T (p.Gly508Val)
9g.36219978C>GCA373425787CLTA,GNEc.1769G>C (p.Gly590Ala)
c.1499G>C (p.Gly500Ala)
c.1676G>C (p.Gly559Ala)
c.1454G>C (p.Gly485Ala)
c.485+15799C>G (n.485+15799C>G)
c.1346G>C (p.Gly449Ala)
c.1661G>C (p.Gly554Ala)
c.1616G>C (p.Gly539Ala)
c.1523G>C (p.Gly508Ala)
 gnomAD v4
9g.36219978C>TCA373425789CLTA,GNEc.1769G>A (p.Gly590Glu)
c.1499G>A (p.Gly500Glu)
c.1676G>A (p.Gly559Glu)
c.1454G>A (p.Gly485Glu)
c.485+15799C>T (n.485+15799C>T)
c.1346G>A (p.Gly449Glu)
c.1661G>A (p.Gly554Glu)
c.1616G>A (p.Gly539Glu)
c.1523G>A (p.Gly508Glu)
9g.36219979C>ACA373425790CLTA,GNEc.1768G>T (p.Gly590Ter)
c.1498G>T (p.Gly500Ter)
c.1675G>T (p.Gly559Ter)
c.1453G>T (p.Gly485Ter)
c.485+15800C>A (n.485+15800C>A)
c.1345G>T (p.Gly449Ter)
c.1660G>T (p.Gly554Ter)
c.1615G>T (p.Gly539Ter)
c.1522G>T (p.Gly508Ter)
9g.36219979C=CA1846328806CLTA,GNEc.1768G= (p.Gly590=)
c.1498G= (p.Gly500=)
c.1675G= (p.Gly559=)
c.1453G= (p.Gly485=)
c.485+15800C= (n.485+15800C=)
c.1345G= (p.Gly449=)
c.1660G= (p.Gly554=)
c.1615G= (p.Gly539=)
c.1522G= (p.Gly508=)
9g.36219979C>GCA373425791CLTA,GNEc.1768G>C (p.Gly590Arg)
c.1498G>C (p.Gly500Arg)
c.1675G>C (p.Gly559Arg)
c.1453G>C (p.Gly485Arg)
c.485+15800C>G (n.485+15800C>G)
c.1345G>C (p.Gly449Arg)
c.1660G>C (p.Gly554Arg)
c.1615G>C (p.Gly539Arg)
c.1522G>C (p.Gly508Arg)
9g.36219979C>TCA5056438CLTA,GNEc.1768G>A (p.Gly590Arg)
c.1498G>A (p.Gly500Arg)
c.1675G>A (p.Gly559Arg)
c.1453G>A (p.Gly485Arg)
c.485+15800C>T (n.485+15800C>T)
c.1345G>A (p.Gly449Arg)
c.1660G>A (p.Gly554Arg)
c.1615G>A (p.Gly539Arg)
c.1522G>A (p.Gly508Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219980G>ACA192841412CLTA,GNEc.1767C>T (p.His589=)
c.1497C>T (p.His499=)
c.1674C>T (p.His558=)
c.1452C>T (p.His484=)
c.485+15801G>A (n.485+15801G>A)
c.1344C>T (p.His448=)
c.1659C>T (p.His553=)
c.1614C>T (p.His538=)
c.1521C>T (p.His507=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36219980G>CCA373425793CLTA,GNEc.1767C>G (p.His589Gln)
c.1497C>G (p.His499Gln)
c.1674C>G (p.His558Gln)
c.1452C>G (p.His484Gln)
c.485+15801G>C (n.485+15801G>C)
c.1344C>G (p.His448Gln)
c.1659C>G (p.His553Gln)
c.1614C>G (p.His538Gln)
c.1521C>G (p.His507Gln)
9g.36219980G=CA1846328825CLTA,GNEc.1767C= (p.His589=)
c.1497C= (p.His499=)
c.1674C= (p.His558=)
c.1452C= (p.His484=)
c.485+15801G= (n.485+15801G=)
c.1344C= (p.His448=)
c.1659C= (p.His553=)
c.1614C= (p.His538=)
c.1521C= (p.His507=)
9g.36219980G>TCA373425795CLTA,GNEc.1767C>A (p.His589Gln)
c.1497C>A (p.His499Gln)
c.1674C>A (p.His558Gln)
c.1452C>A (p.His484Gln)
c.485+15801G>T (n.485+15801G>T)
c.1344C>A (p.His448Gln)
c.1659C>A (p.His553Gln)
c.1614C>A (p.His538Gln)
c.1521C>A (p.His507Gln)
 gnomAD v4
9g.36219981T>ACA373425799CLTA,GNEc.1766A>T (p.His589Leu)
c.1496A>T (p.His499Leu)
c.1673A>T (p.His558Leu)
c.1451A>T (p.His484Leu)
c.485+15802T>A (n.485+15802T>A)
c.1343A>T (p.His448Leu)
c.1658A>T (p.His553Leu)
c.1613A>T (p.His538Leu)
c.1520A>T (p.His507Leu)
9g.36219981T>CCA373425798CLTA,GNEc.1766A>G (p.His589Arg)
c.1496A>G (p.His499Arg)
c.1673A>G (p.His558Arg)
c.1451A>G (p.His484Arg)
c.485+15802T>C (n.485+15802T>C)
c.1343A>G (p.His448Arg)
c.1658A>G (p.His553Arg)
c.1613A>G (p.His538Arg)
c.1520A>G (p.His507Arg)
9g.36219981T>GCA373425797CLTA,GNEc.1766A>C (p.His589Pro)
c.1496A>C (p.His499Pro)
c.1673A>C (p.His558Pro)
c.1451A>C (p.His484Pro)
c.485+15802T>G (n.485+15802T>G)
c.1343A>C (p.His448Pro)
c.1658A>C (p.His553Pro)
c.1613A>C (p.His538Pro)
c.1520A>C (p.His507Pro)
9g.36219982G>ACA373425801CLTA,GNEc.1765C>T (p.His589Tyr)
c.1495C>T (p.His499Tyr)
c.1672C>T (p.His558Tyr)
c.1450C>T (p.His484Tyr)
c.485+15803G>A (n.485+15803G>A)
c.1342C>T (p.His448Tyr)
c.1657C>T (p.His553Tyr)
c.1612C>T (p.His538Tyr)
c.1519C>T (p.His507Tyr)
9g.36219982G>CCA373425802CLTA,GNEc.1765C>G (p.His589Asp)
c.1495C>G (p.His499Asp)
c.1672C>G (p.His558Asp)
c.1450C>G (p.His484Asp)
c.485+15803G>C (n.485+15803G>C)
c.1342C>G (p.His448Asp)
c.1657C>G (p.His553Asp)
c.1612C>G (p.His538Asp)
c.1519C>G (p.His507Asp)
9g.36219982G>TCA373425803CLTA,GNEc.1765C>A (p.His589Asn)
c.1495C>A (p.His499Asn)
c.1672C>A (p.His558Asn)
c.1450C>A (p.His484Asn)
c.485+15803G>T (n.485+15803G>T)
c.1342C>A (p.His448Asn)
c.1657C>A (p.His553Asn)
c.1612C>A (p.His538Asn)
c.1519C>A (p.His507Asn)
9g.36219983G>ACA464495020CLTA,GNEc.1764C>T (p.Ile588=)
c.1494C>T (p.Ile498=)
c.1671C>T (p.Ile557=)
c.1449C>T (p.Ile483=)
c.485+15804G>A (n.485+15804G>A)
c.1341C>T (p.Ile447=)
c.1656C>T (p.Ile552=)
c.1611C>T (p.Ile537=)
c.1518C>T (p.Ile506=)
 ClinVar dbSNP
9g.36219983G>CCA373425805CLTA,GNEc.1764C>G (p.Ile588Met)
c.1494C>G (p.Ile498Met)
c.1671C>G (p.Ile557Met)
c.1449C>G (p.Ile483Met)
c.485+15804G>C (n.485+15804G>C)
c.1341C>G (p.Ile447Met)
c.1656C>G (p.Ile552Met)
c.1611C>G (p.Ile537Met)
c.1518C>G (p.Ile506Met)
9g.36219983G=CA1846328831CLTA,GNEc.1764C= (p.Ile588=)
c.1494C= (p.Ile498=)
c.1671C= (p.Ile557=)
c.1449C= (p.Ile483=)
c.485+15804G= (n.485+15804G=)
c.1341C= (p.Ile447=)
c.1656C= (p.Ile552=)
c.1611C= (p.Ile537=)
c.1518C= (p.Ile506=)
9g.36219983G>TCA464495021CLTA,GNEc.1764C>A (p.Ile588=)
c.1494C>A (p.Ile498=)
c.1671C>A (p.Ile557=)
c.1449C>A (p.Ile483=)
c.485+15804G>T (n.485+15804G>T)
c.1341C>A (p.Ile447=)
c.1656C>A (p.Ile552=)
c.1611C>A (p.Ile537=)
c.1518C>A (p.Ile506=)
9g.36219984A=CA1846328834CLTA,GNEc.1763T= (p.Ile588=)
c.1493T= (p.Ile498=)
c.1670T= (p.Ile557=)
c.1448T= (p.Ile483=)
c.485+15805A= (n.485+15805A=)
c.1340T= (p.Ile447=)
c.1655T= (p.Ile552=)
c.1610T= (p.Ile537=)
c.1517T= (p.Ile506=)
9g.36219984A>CCA373425806CLTA,GNEc.1763T>G (p.Ile588Ser)
c.1493T>G (p.Ile498Ser)
c.1670T>G (p.Ile557Ser)
c.1448T>G (p.Ile483Ser)
c.485+15805A>C (n.485+15805A>C)
c.1340T>G (p.Ile447Ser)
c.1655T>G (p.Ile552Ser)
c.1610T>G (p.Ile537Ser)
c.1517T>G (p.Ile506Ser)
9g.36219984A>GCA10606187CLTA,GNEc.1763T>C (p.Ile588Thr)
c.1493T>C (p.Ile498Thr)
c.1670T>C (p.Ile557Thr)
c.1448T>C (p.Ile483Thr)
c.485+15805A>G (n.485+15805A>G)
c.1340T>C (p.Ile447Thr)
c.1655T>C (p.Ile552Thr)
c.1610T>C (p.Ile537Thr)
c.1517T>C (p.Ile506Thr)
 ClinVar dbSNP
9g.36219984A>TCA373425809CLTA,GNEc.1763T>A (p.Ile588Asn)
c.1493T>A (p.Ile498Asn)
c.1670T>A (p.Ile557Asn)
c.1448T>A (p.Ile483Asn)
c.485+15805A>T (n.485+15805A>T)
c.1340T>A (p.Ile447Asn)
c.1655T>A (p.Ile552Asn)
c.1610T>A (p.Ile537Asn)
c.1517T>A (p.Ile506Asn)
9g.36219985T>ACA373425815CLTA,GNEc.1762A>T (p.Ile588Phe)
c.1492A>T (p.Ile498Phe)
c.1669A>T (p.Ile557Phe)
c.1447A>T (p.Ile483Phe)
c.485+15806T>A (n.485+15806T>A)
c.1339A>T (p.Ile447Phe)
c.1654A>T (p.Ile552Phe)
c.1609A>T (p.Ile537Phe)
c.1516A>T (p.Ile506Phe)
9g.36219985T>CCA373425810CLTA,GNEc.1762A>G (p.Ile588Val)
c.1492A>G (p.Ile498Val)
c.1669A>G (p.Ile557Val)
c.1447A>G (p.Ile483Val)
c.485+15806T>C (n.485+15806T>C)
c.1339A>G (p.Ile447Val)
c.1654A>G (p.Ile552Val)
c.1609A>G (p.Ile537Val)
c.1516A>G (p.Ile506Val)
 gnomAD v4
9g.36219985T>GCA373425812CLTA,GNEc.1762A>C (p.Ile588Leu)
c.1492A>C (p.Ile498Leu)
c.1669A>C (p.Ile557Leu)
c.1447A>C (p.Ile483Leu)
c.485+15806T>G (n.485+15806T>G)
c.1339A>C (p.Ile447Leu)
c.1654A>C (p.Ile552Leu)
c.1609A>C (p.Ile537Leu)
c.1516A>C (p.Ile506Leu)
9g.36219986C>ACA373425816CLTA,GNEc.1761G>T (p.Leu587Phe)
c.1491G>T (p.Leu497Phe)
c.1668G>T (p.Leu556Phe)
c.1446G>T (p.Leu482Phe)
c.485+15807C>A (n.485+15807C>A)
c.1338G>T (p.Leu446Phe)
c.1653G>T (p.Leu551Phe)
c.1608G>T (p.Leu536Phe)
c.1515G>T (p.Leu505Phe)
9g.36219986C>GCA373425818CLTA,GNEc.1761G>C (p.Leu587Phe)
c.1491G>C (p.Leu497Phe)
c.1668G>C (p.Leu556Phe)
c.1446G>C (p.Leu482Phe)
c.485+15807C>G (n.485+15807C>G)
c.1338G>C (p.Leu446Phe)
c.1653G>C (p.Leu551Phe)
c.1608G>C (p.Leu536Phe)
c.1515G>C (p.Leu505Phe)
9g.36219986C>TCA464495022CLTA,GNEc.1761G>A (p.Leu587=)
c.1491G>A (p.Leu497=)
c.1668G>A (p.Leu556=)
c.1446G>A (p.Leu482=)
c.485+15807C>T (n.485+15807C>T)
c.1338G>A (p.Leu446=)
c.1653G>A (p.Leu551=)
c.1608G>A (p.Leu536=)
c.1515G>A (p.Leu505=)
9g.36219987A>CCA373425819CLTA,GNEc.1760T>G (p.Leu587Trp)
c.1490T>G (p.Leu497Trp)
c.1667T>G (p.Leu556Trp)
c.1445T>G (p.Leu482Trp)
c.485+15808A>C (n.485+15808A>C)
c.1337T>G (p.Leu446Trp)
c.1652T>G (p.Leu551Trp)
c.1607T>G (p.Leu536Trp)
c.1514T>G (p.Leu505Trp)
9g.36219987A>GCA373425821CLTA,GNEc.1760T>C (p.Leu587Ser)
c.1490T>C (p.Leu497Ser)
c.1667T>C (p.Leu556Ser)
c.1445T>C (p.Leu482Ser)
c.485+15808A>G (n.485+15808A>G)
c.1337T>C (p.Leu446Ser)
c.1652T>C (p.Leu551Ser)
c.1607T>C (p.Leu536Ser)
c.1514T>C (p.Leu505Ser)
9g.36219987A>TCA373425822CLTA,GNEc.1760T>A (p.Leu587Ter)
c.1490T>A (p.Leu497Ter)
c.1667T>A (p.Leu556Ter)
c.1445T>A (p.Leu482Ter)
c.485+15808A>T (n.485+15808A>T)
c.1337T>A (p.Leu446Ter)
c.1652T>A (p.Leu551Ter)
c.1607T>A (p.Leu536Ter)
c.1514T>A (p.Leu505Ter)
9g.36219988A=CA1846328841CLTA,GNEc.1759T= (p.Leu587=)
c.1489T= (p.Leu497=)
c.1666T= (p.Leu556=)
c.1444T= (p.Leu482=)
c.485+15809A= (n.485+15809A=)
c.1336T= (p.Leu446=)
c.1651T= (p.Leu551=)
c.1606T= (p.Leu536=)
c.1513T= (p.Leu505=)
9g.36219988A>CCA373425826CLTA,GNEc.1759T>G (p.Leu587Val)
c.1489T>G (p.Leu497Val)
c.1666T>G (p.Leu556Val)
c.1444T>G (p.Leu482Val)
c.485+15809A>C (n.485+15809A>C)
c.1336T>G (p.Leu446Val)
c.1651T>G (p.Leu551Val)
c.1606T>G (p.Leu536Val)
c.1513T>G (p.Leu505Val)
9g.36219988A>GCA5056439CLTA,GNEc.1759T>C (p.Leu587=)
c.1489T>C (p.Leu497=)
c.1666T>C (p.Leu556=)
c.1444T>C (p.Leu482=)
c.485+15809A>G (n.485+15809A>G)
c.1336T>C (p.Leu446=)
c.1651T>C (p.Leu551=)
c.1606T>C (p.Leu536=)
c.1513T>C (p.Leu505=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219988A>TCA373425824CLTA,GNEc.1759T>A (p.Leu587Met)
c.1489T>A (p.Leu497Met)
c.1666T>A (p.Leu556Met)
c.1444T>A (p.Leu482Met)
c.485+15809A>T (n.485+15809A>T)
c.1336T>A (p.Leu446Met)
c.1651T>A (p.Leu551Met)
c.1606T>A (p.Leu536Met)
c.1513T>A (p.Leu505Met)
9g.36219989T>ACA373425827CLTA,GNEc.1758A>T (p.Glu586Asp)
c.1488A>T (p.Glu496Asp)
c.1665A>T (p.Glu555Asp)
c.1443A>T (p.Glu481Asp)
c.485+15810T>A (n.485+15810T>A)
c.1335A>T (p.Glu445Asp)
c.1650A>T (p.Glu550Asp)
c.1605A>T (p.Glu535Asp)
c.1512A>T (p.Glu504Asp)
9g.36219989T>CCA464495023CLTA,GNEc.1758A>G (p.Glu586=)
c.1488A>G (p.Glu496=)
c.1665A>G (p.Glu555=)
c.1443A>G (p.Glu481=)
c.485+15810T>C (n.485+15810T>C)
c.1335A>G (p.Glu445=)
c.1650A>G (p.Glu550=)
c.1605A>G (p.Glu535=)
c.1512A>G (p.Glu504=)
9g.36219989T>GCA373425829CLTA,GNEc.1758A>C (p.Glu586Asp)
c.1488A>C (p.Glu496Asp)
c.1665A>C (p.Glu555Asp)
c.1443A>C (p.Glu481Asp)
c.485+15810T>G (n.485+15810T>G)
c.1335A>C (p.Glu445Asp)
c.1650A>C (p.Glu550Asp)
c.1605A>C (p.Glu535Asp)
c.1512A>C (p.Glu504Asp)
9g.36219990T>ACA373425831CLTA,GNEc.1757A>T (p.Glu586Val)
c.1487A>T (p.Glu496Val)
c.1664A>T (p.Glu555Val)
c.1442A>T (p.Glu481Val)
c.485+15811T>A (n.485+15811T>A)
c.1334A>T (p.Glu445Val)
c.1649A>T (p.Glu550Val)
c.1604A>T (p.Glu535Val)
c.1511A>T (p.Glu504Val)
9g.36219990T>CCA373425832CLTA,GNEc.1757A>G (p.Glu586Gly)
c.1487A>G (p.Glu496Gly)
c.1664A>G (p.Glu555Gly)
c.1442A>G (p.Glu481Gly)
c.485+15811T>C (n.485+15811T>C)
c.1334A>G (p.Glu445Gly)
c.1649A>G (p.Glu550Gly)
c.1604A>G (p.Glu535Gly)
c.1511A>G (p.Glu504Gly)
9g.36219990T>GCA5056440CLTA,GNEc.1757A>C (p.Glu586Ala)
c.1487A>C (p.Glu496Ala)
c.1664A>C (p.Glu555Ala)
c.1442A>C (p.Glu481Ala)
c.485+15811T>G (n.485+15811T>G)
c.1334A>C (p.Glu445Ala)
c.1649A>C (p.Glu550Ala)
c.1604A>C (p.Glu535Ala)
c.1511A>C (p.Glu504Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219990T=CA1846328845CLTA,GNEc.1757A= (p.Glu586=)
c.1487A= (p.Glu496=)
c.1664A= (p.Glu555=)
c.1442A= (p.Glu481=)
c.485+15811T= (n.485+15811T=)
c.1334A= (p.Glu445=)
c.1649A= (p.Glu550=)
c.1604A= (p.Glu535=)
c.1511A= (p.Glu504=)
9g.36219991C>ACA373425834CLTA,GNEc.1756G>T (p.Glu586Ter)
c.1486G>T (p.Glu496Ter)
c.1663G>T (p.Glu555Ter)
c.1441G>T (p.Glu481Ter)
c.485+15812C>A (n.485+15812C>A)
c.1333G>T (p.Glu445Ter)
c.1648G>T (p.Glu550Ter)
c.1603G>T (p.Glu535Ter)
c.1510G>T (p.Glu504Ter)
9g.36219991C>GCA373425835CLTA,GNEc.1756G>C (p.Glu586Gln)
c.1486G>C (p.Glu496Gln)
c.1663G>C (p.Glu555Gln)
c.1441G>C (p.Glu481Gln)
c.485+15812C>G (n.485+15812C>G)
c.1333G>C (p.Glu445Gln)
c.1648G>C (p.Glu550Gln)
c.1603G>C (p.Glu535Gln)
c.1510G>C (p.Glu504Gln)
9g.36219991C>TCA373425838CLTA,GNEc.1756G>A (p.Glu586Lys)
c.1486G>A (p.Glu496Lys)
c.1663G>A (p.Glu555Lys)
c.1441G>A (p.Glu481Lys)
c.485+15812C>T (n.485+15812C>T)
c.1333G>A (p.Glu445Lys)
c.1648G>A (p.Glu550Lys)
c.1603G>A (p.Glu535Lys)
c.1510G>A (p.Glu504Lys)
 gnomAD v4
9g.36219992A=CA1846328849CLTA,GNEc.1755T= (p.His585=)
c.1485T= (p.His495=)
c.1662T= (p.His554=)
c.1440T= (p.His480=)
c.485+15813A= (n.485+15813A=)
c.1332T= (p.His444=)
c.1647T= (p.His549=)
c.1602T= (p.His534=)
c.1509T= (p.His503=)
9g.36219992A>CCA5056441CLTA,GNEc.1755T>G (p.His585Gln)
c.1485T>G (p.His495Gln)
c.1662T>G (p.His554Gln)
c.1440T>G (p.His480Gln)
c.485+15813A>C (n.485+15813A>C)
c.1332T>G (p.His444Gln)
c.1647T>G (p.His549Gln)
c.1602T>G (p.His534Gln)
c.1509T>G (p.His503Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36219992A>GCA464495024CLTA,GNEc.1755T>C (p.His585=)
c.1485T>C (p.His495=)
c.1662T>C (p.His554=)
c.1440T>C (p.His480=)
c.485+15813A>G (n.485+15813A>G)
c.1332T>C (p.His444=)
c.1647T>C (p.His549=)
c.1602T>C (p.His534=)
c.1509T>C (p.His503=)
9g.36219992A>TCA373425840CLTA,GNEc.1755T>A (p.His585Gln)
c.1485T>A (p.His495Gln)
c.1662T>A (p.His554Gln)
c.1440T>A (p.His480Gln)
c.485+15813A>T (n.485+15813A>T)
c.1332T>A (p.His444Gln)
c.1647T>A (p.His549Gln)
c.1602T>A (p.His534Gln)
c.1509T>A (p.His503Gln)
 gnomAD v4
9g.36219993T>ACA373425841CLTA,GNEc.1754A>T (p.His585Leu)
c.1484A>T (p.His495Leu)
c.1661A>T (p.His554Leu)
c.1439A>T (p.His480Leu)
c.485+15814T>A (n.485+15814T>A)
c.1331A>T (p.His444Leu)
c.1646A>T (p.His549Leu)
c.1601A>T (p.His534Leu)
c.1508A>T (p.His503Leu)
9g.36219993T>CCA373425842CLTA,GNEc.1754A>G (p.His585Arg)
c.1484A>G (p.His495Arg)
c.1661A>G (p.His554Arg)
c.1439A>G (p.His480Arg)
c.485+15814T>C (n.485+15814T>C)
c.1331A>G (p.His444Arg)
c.1646A>G (p.His549Arg)
c.1601A>G (p.His534Arg)
c.1508A>G (p.His503Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36219993T>GCA373425843CLTA,GNEc.1754A>C (p.His585Pro)
c.1484A>C (p.His495Pro)
c.1661A>C (p.His554Pro)
c.1439A>C (p.His480Pro)
c.485+15814T>G (n.485+15814T>G)
c.1331A>C (p.His444Pro)
c.1646A>C (p.His549Pro)
c.1601A>C (p.His534Pro)
c.1508A>C (p.His503Pro)
9g.36219993T=CA1846328855CLTA,GNEc.1754A= (p.His585=)
c.1484A= (p.His495=)
c.1661A= (p.His554=)
c.1439A= (p.His480=)
c.485+15814T= (n.485+15814T=)
c.1331A= (p.His444=)
c.1646A= (p.His549=)
c.1601A= (p.His534=)
c.1508A= (p.His503=)
9g.36219994G>ACA5056442CLTA,GNEc.1753C>T (p.His585Tyr)
c.1483C>T (p.His495Tyr)
c.1660C>T (p.His554Tyr)
c.1438C>T (p.His480Tyr)
c.485+15815G>A (n.485+15815G>A)
c.1330C>T (p.His444Tyr)
c.1645C>T (p.His549Tyr)
c.1600C>T (p.His534Tyr)
c.1507C>T (p.His503Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36219994G>CCA373425847CLTA,GNEc.1753C>G (p.His585Asp)
c.1483C>G (p.His495Asp)
c.1660C>G (p.His554Asp)
c.1438C>G (p.His480Asp)
c.485+15815G>C (n.485+15815G>C)
c.1330C>G (p.His444Asp)
c.1645C>G (p.His549Asp)
c.1600C>G (p.His534Asp)
c.1507C>G (p.His503Asp)
9g.36219994G=CA1846328861CLTA,GNEc.1753C= (p.His585=)
c.1483C= (p.His495=)
c.1660C= (p.His554=)
c.1438C= (p.His480=)
c.485+15815G= (n.485+15815G=)
c.1330C= (p.His444=)
c.1645C= (p.His549=)
c.1600C= (p.His534=)
c.1507C= (p.His503=)
9g.36219994G>TCA373425846CLTA,GNEc.1753C>A (p.His585Asn)
c.1483C>A (p.His495Asn)
c.1660C>A (p.His554Asn)
c.1438C>A (p.His480Asn)
c.485+15815G>T (n.485+15815G>T)
c.1330C>A (p.His444Asn)
c.1645C>A (p.His549Asn)
c.1600C>A (p.His534Asn)
c.1507C>A (p.His503Asn)

Number of alleles fetched