Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.15187220C>ACA305774906NOTCH3c.1725G>T (p.Thr575=)
c.1722G>T (p.Thr574=)
 dbSNP gnomAD v4
19g.15187220C=CA2324747677NOTCH3c.1725G= (p.Thr575=)
c.1722G= (p.Thr574=)
19g.15187220C>GCA9263569NOTCH3c.1725G>C (p.Thr575=)
c.1722G>C (p.Thr574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187220C>TCA9263568NOTCH3c.1725G>A (p.Thr575=)
c.1722G>A (p.Thr574=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187221G>ACA9263570NOTCH3c.1724C>T (p.Thr575Met)
c.1721C>T (p.Thr574Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187221G>CCA404525086NOTCH3c.1724C>G (p.Thr575Arg)
c.1721C>G (p.Thr574Arg)
19g.15187221G=CA2324747678NOTCH3c.1724C= (p.Thr575=)
c.1721C= (p.Thr574=)
19g.15187221G>TCA404525089NOTCH3c.1724C>A (p.Thr575Lys)
c.1721C>A (p.Thr574Lys)
19g.15187222T>ACA404525092NOTCH3c.1723A>T (p.Thr575Ser)
c.1720A>T (p.Thr574Ser)
 gnomAD v4
19g.15187222T>CCA404525094NOTCH3c.1723A>G (p.Thr575Ala)
c.1720A>G (p.Thr574Ala)
19g.15187222T>GCA404525096NOTCH3c.1723A>C (p.Thr575Pro)
c.1720A>C (p.Thr574Pro)
19g.15187223G>ACA506078499NOTCH3c.1722C>T (p.Tyr574=)
c.1719C>T (p.Tyr573=)
 dbSNP
19g.15187223G>CCA404525102NOTCH3c.1722C>G (p.Tyr574Ter)
c.1719C>G (p.Tyr573Ter)
19g.15187223G>TCA404525099NOTCH3c.1722C>A (p.Tyr574Ter)
c.1719C>A (p.Tyr573Ter)
19g.15187224T>ACA404525103NOTCH3c.1721A>T (p.Tyr574Phe)
c.1718A>T (p.Tyr573Phe)
19g.15187224T>CCA404525105NOTCH3c.1721A>G (p.Tyr574Cys)
c.1718A>G (p.Tyr573Cys)
 COSMIC COSMIC
19g.15187224T>GCA404525107NOTCH3c.1721A>C (p.Tyr574Ser)
c.1718A>C (p.Tyr573Ser)
 dbSNP
19g.15187225A=CA2324747679NOTCH3c.1720T= (p.Tyr574=)
c.1717T= (p.Tyr573=)
19g.15187225A>CCA404525109NOTCH3c.1720T>G (p.Tyr574Asp)
c.1717T>G (p.Tyr573Asp)
19g.15187225A>GCA404525111NOTCH3c.1720T>C (p.Tyr574His)
c.1717T>C (p.Tyr573His)
 ClinVar dbSNP gnomAD v2
19g.15187225A>TCA404525112NOTCH3c.1720T>A (p.Tyr574Asn)
c.1717T>A (p.Tyr573Asn)
 gnomAD v4
19g.15187226G>ACA506078502NOTCH3c.1719C>T (p.Gly573=)
c.1716C>T (p.Gly572=)
19g.15187226G>CCA506078504NOTCH3c.1719C>G (p.Gly573=)
c.1716C>G (p.Gly572=)
19g.15187226G>TCA506078505NOTCH3c.1719C>A (p.Gly573=)
c.1716C>A (p.Gly572=)
19g.15187227C>ACA404525115NOTCH3c.1718G>T (p.Gly573Val)
c.1715G>T (p.Gly572Val)
 dbSNP
19g.15187227C>GCA404525119NOTCH3c.1718G>C (p.Gly573Ala)
c.1715G>C (p.Gly572Ala)
19g.15187227C>TCA404525116NOTCH3c.1718G>A (p.Gly573Asp)
c.1715G>A (p.Gly572Asp)
 dbSNP gnomAD v4
19g.15187228C>ACA404525121NOTCH3c.1717G>T (p.Gly573Cys)
c.1714G>T (p.Gly572Cys)
19g.15187228C>GCA404525123NOTCH3c.1717G>C (p.Gly573Arg)
c.1714G>C (p.Gly572Arg)
19g.15187228C>TCA404525126NOTCH3c.1717G>A (p.Gly573Ser)
c.1714G>A (p.Gly572Ser)
19g.15187229A>CCA506078509NOTCH3c.1716T>G (p.Pro572=)
c.1713T>G (p.Pro571=)
19g.15187229A>GCA506078511NOTCH3c.1716T>C (p.Pro572=)
c.1713T>C (p.Pro571=)
19g.15187229A>TCA506078510NOTCH3c.1716T>A (p.Pro572=)
c.1713T>A (p.Pro571=)
19g.15187230G>ACA9263571NOTCH3c.1715C>T (p.Pro572Leu)
c.1712C>T (p.Pro571Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187230G>CCA404525128NOTCH3c.1715C>G (p.Pro572Arg)
c.1712C>G (p.Pro571Arg)
19g.15187230G=CA2324747680NOTCH3c.1715C= (p.Pro572=)
c.1712C= (p.Pro571=)
19g.15187230G>TCA404525130NOTCH3c.1715C>A (p.Pro572His)
c.1712C>A (p.Pro571His)
19g.15187231G>ACA404525131NOTCH3c.1714C>T (p.Pro572Ser)
c.1711C>T (p.Pro571Ser)
 gnomAD v4
19g.15187231G>CCA404525133NOTCH3c.1714C>G (p.Pro572Ala)
c.1711C>G (p.Pro571Ala)
19g.15187231G>TCA404525134NOTCH3c.1714C>A (p.Pro572Thr)
c.1711C>A (p.Pro571Thr)
19g.15187232A>CCA506078515NOTCH3c.1713T>G (p.Ala571=)
c.1710T>G (p.Ala570=)
19g.15187232A>GCA506078516NOTCH3c.1713T>C (p.Ala571=)
c.1710T>C (p.Ala570=)
19g.15187232A>TCA506078517NOTCH3c.1713T>A (p.Ala571=)
c.1710T>A (p.Ala570=)
19g.15187233G>ACA404525138NOTCH3c.1712C>T (p.Ala571Val)
c.1709C>T (p.Ala570Val)
 dbSNP gnomAD v4
19g.15187233G>CCA404525139NOTCH3c.1712C>G (p.Ala571Gly)
c.1709C>G (p.Ala570Gly)
19g.15187233G>TCA404525140NOTCH3c.1712C>A (p.Ala571Asp)
c.1709C>A (p.Ala570Asp)
19g.15187233_15187236delinsGCACCA2324747681NOTCH3c.1709_1712delinsGTGC (p.Cys570=)
c.1706_1709delinsGTGC (p.Cys569=)
19g.15187234C>ACA404525147NOTCH3c.1711G>T (p.Ala571Ser)
c.1708G>T (p.Ala570Ser)
19g.15187234C>GCA404525144NOTCH3c.1711G>C (p.Ala571Pro)
c.1708G>C (p.Ala570Pro)
19g.15187234C>TCA404525143NOTCH3c.1711G>A (p.Ala571Thr)
c.1708G>A (p.Ala570Thr)
 gnomAD v4
19g.15187234_15187236delCA783619313NOTCH3c.1709_1711del (p.Cys570_Ala571delinsSer)
c.1706_1708del (p.Cys569_Ala570delinsSer)
 dbSNP
19g.15187235A>CCA404525148NOTCH3c.1710T>G (p.Cys570Trp)
c.1707T>G (p.Cys569Trp)
19g.15187235A>GCA506078520NOTCH3c.1710T>C (p.Cys570=)
c.1707T>C (p.Cys569=)
19g.15187235A>TCA404525150NOTCH3c.1710T>A (p.Cys570Ter)
c.1707T>A (p.Cys569Ter)
19g.15187236C>ACA404525153NOTCH3c.1709G>T (p.Cys570Phe)
c.1706G>T (p.Cys569Phe)
 ClinVar dbSNP
19g.15187236C>GCA404525156NOTCH3c.1709G>C (p.Cys570Ser)
c.1706G>C (p.Cys569Ser)
19g.15187236C>TCA404525154NOTCH3c.1709G>A (p.Cys570Tyr)
c.1706G>A (p.Cys569Tyr)
19g.15187237A>CCA404525158NOTCH3c.1708T>G (p.Cys570Gly)
c.1705T>G (p.Cys569Gly)
19g.15187237A>GCA404525160NOTCH3c.1708T>C (p.Cys570Arg)
c.1705T>C (p.Cys569Arg)
 dbSNP
19g.15187237A>TCA404525162NOTCH3c.1708T>A (p.Cys570Ser)
c.1705T>A (p.Cys569Ser)
19g.15187238G>ACA506078522NOTCH3c.1707C>T (p.Ala569=)
c.1704C>T (p.Ala568=)
 gnomAD v4
19g.15187238G>CCA506078523NOTCH3c.1707C>G (p.Ala569=)
c.1704C>G (p.Ala568=)
19g.15187238G>TCA506078524NOTCH3c.1707C>A (p.Ala569=)
c.1704C>A (p.Ala568=)
19g.15187239G>ACA404525164NOTCH3c.1706C>T (p.Ala569Val)
c.1703C>T (p.Ala568Val)
 gnomAD v4
19g.15187239G>CCA404525170NOTCH3c.1706C>G (p.Ala569Gly)
c.1703C>G (p.Ala568Gly)
19g.15187239G>TCA404525171NOTCH3c.1706C>A (p.Ala569Asp)
c.1703C>A (p.Ala568Asp)
19g.15187240C>ACA404525175NOTCH3c.1705G>T (p.Ala569Ser)
c.1702G>T (p.Ala568Ser)
 dbSNP
19g.15187240C>GCA404525173NOTCH3c.1705G>C (p.Ala569Pro)
c.1702G>C (p.Ala568Pro)
19g.15187240C>TCA404525174NOTCH3c.1705G>A (p.Ala569Thr)
c.1702G>A (p.Ala568Thr)
 gnomAD v4
19g.15187241A>CCA404525176NOTCH3c.1704T>G (p.Cys568Trp)
c.1701T>G (p.Cys567Trp)
19g.15187241A>GCA506078526NOTCH3c.1704T>C (p.Cys568=)
c.1701T>C (p.Cys567=)
 gnomAD v4
19g.15187241A>TCA404525177NOTCH3c.1704T>A (p.Cys568Ter)
c.1701T>A (p.Cys567Ter)
19g.15187242C>ACA404525179NOTCH3c.1703G>T (p.Cys568Phe)
c.1700G>T (p.Cys567Phe)
19g.15187242C>GCA404525181NOTCH3c.1703G>C (p.Cys568Ser)
c.1700G>C (p.Cys567Ser)
19g.15187242C>TCA404525182NOTCH3c.1703G>A (p.Cys568Tyr)
c.1700G>A (p.Cys567Tyr)
19g.15187242_15187244delinsCATCA2324747682NOTCH3c.1701_1703delinsATG (p.Ser567=)
c.1698_1700delinsATG (p.Ser566=)
19g.15187243A>CCA404525186NOTCH3c.1702T>G (p.Cys568Gly)
c.1699T>G (p.Cys567Gly)
19g.15187243A>GCA404525184NOTCH3c.1702T>C (p.Cys568Arg)
c.1699T>C (p.Cys567Arg)
 ClinVar
19g.15187243A>TCA404525185NOTCH3c.1702T>A (p.Cys568Ser)
c.1699T>A (p.Cys567Ser)
19g.15187243_15187244delCA632128070NOTCH3c.1701_1702del (p.Ala569LeufsTer?)
c.1698_1699del (p.Ala568LeufsTer?)
 dbSNP gnomAD v2 gnomAD v4
19g.15187244T>ACA506078528NOTCH3c.1701A>T (p.Ser567=)
c.1698A>T (p.Ser566=)
19g.15187244T>CCA506078529NOTCH3c.1701A>G (p.Ser567=)
c.1698A>G (p.Ser566=)
19g.15187244T>GCA506078530NOTCH3c.1701A>C (p.Ser567=)
c.1698A>C (p.Ser566=)
 ClinVar dbSNP gnomAD v4
19g.15187244T=CA2324747683NOTCH3c.1701A= (p.Ser567=)
c.1698A= (p.Ser566=)
19g.15187245G>ACA404525188NOTCH3c.1700C>T (p.Ser567Leu)
c.1697C>T (p.Ser566Leu)
 gnomAD v4
19g.15187245G>CCA404525189NOTCH3c.1700C>G (p.Ser567Ter)
c.1697C>G (p.Ser566Ter)
 gnomAD v4
19g.15187245G=CA2324747684NOTCH3c.1700C= (p.Ser567=)
c.1697C= (p.Ser566=)
19g.15187245G>TCA404525190NOTCH3c.1700C>A (p.Ser567Ter)
c.1697C>A (p.Ser566Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187246A>CCA404525192NOTCH3c.1699T>G (p.Ser567Ala)
c.1696T>G (p.Ser566Ala)
19g.15187246A>GCA404525193NOTCH3c.1699T>C (p.Ser567Pro)
c.1696T>C (p.Ser566Pro)
19g.15187246A>TCA404525194NOTCH3c.1699T>A (p.Ser567Thr)
c.1696T>A (p.Ser566Thr)
19g.15187247G>ACA9263572NOTCH3c.1698C>T (p.Phe566=)
c.1695C>T (p.Phe565=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187247G>CCA404525196NOTCH3c.1698C>G (p.Phe566Leu)
c.1695C>G (p.Phe565Leu)
 ClinVar
19g.15187247G=CA2324747685NOTCH3c.1698C= (p.Phe566=)
c.1695C= (p.Phe565=)
19g.15187247G>TCA404525198NOTCH3c.1698C>A (p.Phe566Leu)
c.1695C>A (p.Phe565Leu)
19g.15187248A>CCA404525200NOTCH3c.1697T>G (p.Phe566Cys)
c.1694T>G (p.Phe565Cys)
19g.15187248A>GCA404525201NOTCH3c.1697T>C (p.Phe566Ser)
c.1694T>C (p.Phe565Ser)
 dbSNP
19g.15187248A>TCA404525203NOTCH3c.1697T>A (p.Phe566Tyr)
c.1694T>A (p.Phe565Tyr)
19g.15187249A>CCA404525827NOTCH3c.1696T>G (p.Phe566Val)
c.1693T>G (p.Phe565Val)
19g.15187249A>GCA404525832NOTCH3c.1696T>C (p.Phe566Leu)
c.1693T>C (p.Phe565Leu)
19g.15187249A>TCA404525830NOTCH3c.1696T>A (p.Phe566Ile)
c.1693T>A (p.Phe565Ile)
19g.15187250G>ACA505827317NOTCH3c.1695C>T (p.Ser565=)
c.1692C>T (p.Ser564=)
19g.15187250G>CCA404525834NOTCH3c.1695C>G (p.Ser565Arg)
c.1692C>G (p.Ser564Arg)
19g.15187250G>TCA404525836NOTCH3c.1695C>A (p.Ser565Arg)
c.1692C>A (p.Ser564Arg)
19g.15187251C>ACA404525838NOTCH3c.1694G>T (p.Ser565Ile)
c.1691G>T (p.Ser564Ile)
19g.15187251C=CA2324747686NOTCH3c.1694G= (p.Ser565=)
c.1691G= (p.Ser564=)
19g.15187251C>GCA9263574NOTCH3c.1694G>C (p.Ser565Thr)
c.1691G>C (p.Ser564Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187251C>TCA9263573NOTCH3c.1694G>A (p.Ser565Asn)
c.1691G>A (p.Ser564Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187252T>ACA404525841NOTCH3c.1693A>T (p.Ser565Cys)
c.1690A>T (p.Ser564Cys)
19g.15187252T>CCA404525843NOTCH3c.1693A>G (p.Ser565Gly)
c.1690A>G (p.Ser564Gly)
19g.15187252T>GCA404525845NOTCH3c.1693A>C (p.Ser565Arg)
c.1690A>C (p.Ser564Arg)
19g.15187253G>ACA9263575NOTCH3c.1692C>T (p.Ala564=)
c.1689C>T (p.Ala563=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187253G>CCA505827318NOTCH3c.1692C>G (p.Ala564=)
c.1689C>G (p.Ala563=)
19g.15187253G=CA2324747687NOTCH3c.1692C= (p.Ala564=)
c.1689C= (p.Ala563=)
19g.15187253G>TCA505827319NOTCH3c.1692C>A (p.Ala564=)
c.1689C>A (p.Ala563=)
19g.15187254G>ACA404525848NOTCH3c.1691C>T (p.Ala564Val)
c.1688C>T (p.Ala563Val)
 dbSNP gnomAD v2 gnomAD v4
19g.15187254G>CCA404525849NOTCH3c.1691C>G (p.Ala564Gly)
c.1688C>G (p.Ala563Gly)
19g.15187254G=CA2324747688NOTCH3c.1691C= (p.Ala564=)
c.1688C= (p.Ala563=)
19g.15187254G>TCA9263576NOTCH3c.1691C>A (p.Ala564Asp)
c.1688C>A (p.Ala563Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187255C>ACA9263578NOTCH3c.1690G>T (p.Ala564Ser)
c.1687G>T (p.Ala563Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187255C=CA2324747689NOTCH3c.1690G= (p.Ala564=)
c.1687G= (p.Ala563=)
19g.15187255C>GCA404525852NOTCH3c.1690G>C (p.Ala564Pro)
c.1687G>C (p.Ala563Pro)
19g.15187255C>TCA9263577NOTCH3c.1690G>A (p.Ala564Thr)
c.1687G>A (p.Ala563Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.15187256G>ACA9263579NOTCH3c.1689C>T (p.Ile563=)
c.1686C>T (p.Ile562=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187256G>CCA404525866NOTCH3c.1689C>G (p.Ile563Met)
c.1686C>G (p.Ile562Met)
19g.15187256G=CA2324747690NOTCH3c.1689C= (p.Ile563=)
c.1686C= (p.Ile562=)
19g.15187256G>TCA505827320NOTCH3c.1689C>A (p.Ile563=)
c.1686C>A (p.Ile562=)
19g.15187257A>CCA404525868NOTCH3c.1688T>G (p.Ile563Ser)
c.1685T>G (p.Ile562Ser)
 dbSNP
19g.15187257A>GCA404525870NOTCH3c.1688T>C (p.Ile563Thr)
c.1685T>C (p.Ile562Thr)
19g.15187257A>TCA404525871NOTCH3c.1688T>A (p.Ile563Asn)
c.1685T>A (p.Ile562Asn)
19g.15187258T>ACA404525874NOTCH3c.1687A>T (p.Ile563Phe)
c.1684A>T (p.Ile562Phe)
19g.15187258T>CCA404525877NOTCH3c.1687A>G (p.Ile563Val)
c.1684A>G (p.Ile562Val)
19g.15187258T>GCA404525878NOTCH3c.1687A>C (p.Ile563Leu)
c.1684A>C (p.Ile562Leu)
 gnomAD v4
19g.15187259G>ACA505827321NOTCH3c.1686C>T (p.Gly562=)
c.1683C>T (p.Gly561=)
 dbSNP
19g.15187259G>CCA505827322NOTCH3c.1686C>G (p.Gly562=)
c.1683C>G (p.Gly561=)
19g.15187259G=CA2324747691NOTCH3c.1686C= (p.Gly562=)
c.1683C= (p.Gly561=)
19g.15187259G>TCA505827323NOTCH3c.1686C>A (p.Gly562=)
c.1683C>A (p.Gly561=)
19g.15187260C>ACA404525880NOTCH3c.1685G>T (p.Gly562Val)
c.1682G>T (p.Gly561Val)
19g.15187260C>GCA404525882NOTCH3c.1685G>C (p.Gly562Ala)
c.1682G>C (p.Gly561Ala)
19g.15187260C>TCA404525885NOTCH3c.1685G>A (p.Gly562Asp)
c.1682G>A (p.Gly561Asp)
 dbSNP
19g.15187261C>ACA404525896NOTCH3c.1684G>T (p.Gly562Cys)
c.1681G>T (p.Gly561Cys)
19g.15187261C>GCA404525894NOTCH3c.1684G>C (p.Gly562Arg)
c.1681G>C (p.Gly561Arg)
19g.15187261C>TCA404525891NOTCH3c.1684G>A (p.Gly562Ser)
c.1681G>A (p.Gly561Ser)
 dbSNP gnomAD v4
19g.15187262A>CCA404525899NOTCH3c.1683T>G (p.Asp561Glu)
c.1680T>G (p.Asp560Glu)
 dbSNP
19g.15187262A>GCA505827324NOTCH3c.1683T>C (p.Asp561=)
c.1680T>C (p.Asp560=)
 gnomAD v4
19g.15187262A>TCA404525901NOTCH3c.1683T>A (p.Asp561Glu)
c.1680T>A (p.Asp560Glu)
 dbSNP
19g.15187263T>ACA404525903NOTCH3c.1682A>T (p.Asp561Val)
c.1679A>T (p.Asp560Val)
19g.15187263T>CCA404525906NOTCH3c.1682A>G (p.Asp561Gly)
c.1679A>G (p.Asp560Gly)
19g.15187263T>GCA404525909NOTCH3c.1682A>C (p.Asp561Ala)
c.1679A>C (p.Asp560Ala)
19g.15187264C>ACA404525910NOTCH3c.1681G>T (p.Asp561Tyr)
c.1678G>T (p.Asp560Tyr)
 dbSNP
19g.15187264C>GCA404525912NOTCH3c.1681G>C (p.Asp561His)
c.1678G>C (p.Asp560His)
 dbSNP
19g.15187264C>TCA404525913NOTCH3c.1681G>A (p.Asp561Asn)
c.1678G>A (p.Asp560Asn)
 gnomAD v4
19g.15187265C>ACA505827325NOTCH3c.1680G>T (p.Val560=)
c.1677G>T (p.Val559=)
19g.15187265C>GCA505827326NOTCH3c.1680G>C (p.Val560=)
c.1677G>C (p.Val559=)
19g.15187265C>TCA505827327NOTCH3c.1680G>A (p.Val560=)
c.1677G>A (p.Val559=)
19g.15187266A>CCA404525914NOTCH3c.1679T>G (p.Val560Gly)
c.1676T>G (p.Val559Gly)
 dbSNP
19g.15187266A>GCA404525915NOTCH3c.1679T>C (p.Val560Ala)
c.1676T>C (p.Val559Ala)
19g.15187266A>TCA404525916NOTCH3c.1679T>A (p.Val560Glu)
c.1676T>A (p.Val559Glu)
19g.15187267C>ACA404525917NOTCH3c.1678G>T (p.Val560Leu)
c.1675G>T (p.Val559Leu)
19g.15187267C=CA2324747692NOTCH3c.1678G= (p.Val560=)
c.1675G= (p.Val559=)
19g.15187267C>GCA404525918NOTCH3c.1678G>C (p.Val560Leu)
c.1675G>C (p.Val559Leu)
19g.15187267C>TCA9263580NOTCH3c.1678G>A (p.Val560Met)
c.1675G>A (p.Val559Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187268G>ACA9263581NOTCH3c.1677C>T (p.Cys559=)
c.1674C>T (p.Cys558=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187268G>CCA404525922NOTCH3c.1677C>G (p.Cys559Trp)
c.1674C>G (p.Cys558Trp)
19g.15187268G=CA2324747693NOTCH3c.1677C= (p.Cys559=)
c.1674C= (p.Cys558=)
19g.15187268G>TCA404525920NOTCH3c.1677C>A (p.Cys559Ter)
c.1674C>A (p.Cys558Ter)
19g.15187269C>ACA404525923NOTCH3c.1676G>T (p.Cys559Phe)
c.1673G>T (p.Cys558Phe)
19g.15187269C>GCA404525925NOTCH3c.1676G>C (p.Cys559Ser)
c.1673G>C (p.Cys558Ser)
19g.15187269C>TCA404525926NOTCH3c.1676G>A (p.Cys559Tyr)
c.1673G>A (p.Cys558Tyr)
 ClinVar dbSNP
19g.15187270A>CCA404525928NOTCH3c.1675T>G (p.Cys559Gly)
c.1672T>G (p.Cys558Gly)
19g.15187270A>GCA404525930NOTCH3c.1675T>C (p.Cys559Arg)
c.1672T>C (p.Cys558Arg)
19g.15187270A>TCA404525931NOTCH3c.1675T>A (p.Cys559Ser)
c.1672T>A (p.Cys558Ser)
19g.15187271G>ACA505827328NOTCH3c.1674C>T (p.Arg558=)
c.1671C>T (p.Arg557=)
 COSMIC COSMIC
19g.15187271G>CCA505827330NOTCH3c.1674C>G (p.Arg558=)
c.1671C>G (p.Arg557=)
19g.15187271G>TCA505827329NOTCH3c.1674C>A (p.Arg558=)
c.1671C>A (p.Arg557=)
 gnomAD v4
19g.15187272C>ACA404525933NOTCH3c.1673G>T (p.Arg558Leu)
c.1670G>T (p.Arg557Leu)
 gnomAD v4
19g.15187272C=CA2324747694NOTCH3c.1673G= (p.Arg558=)
c.1670G= (p.Arg557=)
19g.15187272C>GCA404525935NOTCH3c.1673G>C (p.Arg558Pro)
c.1670G>C (p.Arg557Pro)
 gnomAD v4
19g.15187272C>TCA9263582NOTCH3c.1673G>A (p.Arg558His)
c.1670G>A (p.Arg557His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187273G>ACA9263584NOTCH3c.1672C>T (p.Arg558Cys)
c.1669C>T (p.Arg557Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187273G>CCA9263583NOTCH3c.1672C>G (p.Arg558Gly)
c.1669C>G (p.Arg557Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187273G=CA2324747695NOTCH3c.1672C= (p.Arg558=)
c.1669C= (p.Arg557=)
19g.15187273G>TCA305774976NOTCH3c.1672C>A (p.Arg558Ser)
c.1669C>A (p.Arg557Ser)
 dbSNP
19g.15187274A=CA2324747696NOTCH3c.1671T= (p.Gly557=)
c.1668T= (p.Gly556=)
19g.15187274A>CCA505827331NOTCH3c.1671T>G (p.Gly557=)
c.1668T>G (p.Gly556=)
19g.15187274A>GCA505827333NOTCH3c.1671T>C (p.Gly557=)
c.1668T>C (p.Gly556=)
19g.15187274A>TCA505827332NOTCH3c.1671T>A (p.Gly557=)
c.1668T>A (p.Gly556=)
 dbSNP
19g.15187275C>ACA404525942NOTCH3c.1670G>T (p.Gly557Val)
c.1667G>T (p.Gly556Val)
19g.15187275C>GCA404525941NOTCH3c.1670G>C (p.Gly557Ala)
c.1667G>C (p.Gly556Ala)
19g.15187275C>TCA404525939NOTCH3c.1670G>A (p.Gly557Asp)
c.1667G>A (p.Gly556Asp)
19g.15187276C>ACA404525944NOTCH3c.1669G>T (p.Gly557Cys)
c.1666G>T (p.Gly556Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15187276C=CA2324747697NOTCH3c.1669G= (p.Gly557=)
c.1666G= (p.Gly556=)
19g.15187276C>GCA404525946NOTCH3c.1669G>C (p.Gly557Arg)
c.1666G>C (p.Gly556Arg)
19g.15187276C>TCA404525948NOTCH3c.1669G>A (p.Gly557Ser)
c.1666G>A (p.Gly556Ser)
19g.15187277A>CCA404525949NOTCH3c.1668T>G (p.His556Gln)
c.1665T>G (p.His555Gln)
19g.15187277A>GCA505827334NOTCH3c.1668T>C (p.His556=)
c.1665T>C (p.His555=)
19g.15187277A>TCA404525950NOTCH3c.1668T>A (p.His556Gln)
c.1665T>A (p.His555Gln)
19g.15187278T>ACA404525951NOTCH3c.1667A>T (p.His556Leu)
c.1664A>T (p.His555Leu)
19g.15187278T>CCA9263585NOTCH3c.1667A>G (p.His556Arg)
c.1664A>G (p.His555Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187278T>GCA404525952NOTCH3c.1667A>C (p.His556Pro)
c.1664A>C (p.His555Pro)
19g.15187278T=CA2324747698NOTCH3c.1667A= (p.His556=)
c.1664A= (p.His555=)
19g.15187279G>ACA404525954NOTCH3c.1666C>T (p.His556Tyr)
c.1663C>T (p.His555Tyr)
 dbSNP gnomAD v4
19g.15187279G>CCA404525955NOTCH3c.1666C>G (p.His556Asp)
c.1663C>G (p.His555Asp)
19g.15187279G=CA2324747699NOTCH3c.1666C= (p.His556=)
c.1663C= (p.His555=)
19g.15187279G>TCA404525957NOTCH3c.1666C>A (p.His556Asn)
c.1663C>A (p.His555Asn)
19g.15187280G>ACA505827335NOTCH3c.1665C>T (p.His555=)
c.1662C>T (p.His554=)
19g.15187280G>CCA404525958NOTCH3c.1665C>G (p.His555Gln)
c.1662C>G (p.His554Gln)
19g.15187280G=CA2324747700NOTCH3c.1665C= (p.His555=)
c.1662C= (p.His554=)
19g.15187280G>TCA9263586NOTCH3c.1665C>A (p.His555Gln)
c.1662C>A (p.His554Gln)
 dbSNP ExAC gnomAD v2
19g.15187281T>ACA404525965NOTCH3c.1664A>T (p.His555Leu)
c.1661A>T (p.His554Leu)
19g.15187281T>CCA404525961NOTCH3c.1664A>G (p.His555Arg)
c.1661A>G (p.His554Arg)
19g.15187281T>GCA404525963NOTCH3c.1664A>C (p.His555Pro)
c.1661A>C (p.His554Pro)
19g.15187282G>ACA404525966NOTCH3c.1663C>T (p.His555Tyr)
c.1660C>T (p.His554Tyr)
 dbSNP
19g.15187282G>CCA404525968NOTCH3c.1663C>G (p.His555Asp)
c.1660C>G (p.His554Asp)
19g.15187282G=CA2324747701NOTCH3c.1663C= (p.His555=)
c.1660C= (p.His554=)
19g.15187282G>TCA404525970NOTCH3c.1663C>A (p.His555Asn)
c.1660C>A (p.His554Asn)
19g.15187283G>ACA9263587NOTCH3c.1662C>T (p.Cys554=)
c.1659C>T (p.Cys553=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
19g.15187283G>CCA404525972NOTCH3c.1662C>G (p.Cys554Trp)
c.1659C>G (p.Cys553Trp)
19g.15187283G=CA2324747702NOTCH3c.1662C= (p.Cys554=)
c.1659C= (p.Cys553=)
19g.15187283G>TCA404525974NOTCH3c.1662C>A (p.Cys554Ter)
c.1659C>A (p.Cys553Ter)
19g.15187284C>ACA404525976NOTCH3c.1661G>T (p.Cys554Phe)
c.1658G>T (p.Cys553Phe)
 gnomAD v4
19g.15187284C>GCA404525977NOTCH3c.1661G>C (p.Cys554Ser)
c.1658G>C (p.Cys553Ser)
19g.15187284C>TCA404525978NOTCH3c.1661G>A (p.Cys554Tyr)
c.1658G>A (p.Cys553Tyr)
 dbSNP
19g.15187285A>CCA404525981NOTCH3c.1660T>G (p.Cys554Gly)
c.1657T>G (p.Cys553Gly)
19g.15187285A>GCA404525982NOTCH3c.1660T>C (p.Cys554Arg)
c.1657T>C (p.Cys553Arg)
19g.15187285A>TCA404525984NOTCH3c.1660T>A (p.Cys554Ser)
c.1657T>A (p.Cys553Ser)
19g.15187286T>ACA505827336NOTCH3c.1659A>T (p.Pro553=)
c.1656A>T (p.Pro552=)
19g.15187286T>CCA9263588NOTCH3c.1659A>G (p.Pro553=)
c.1656A>G (p.Pro552=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187286T>GCA505827337NOTCH3c.1659A>C (p.Pro553=)
c.1656A>C (p.Pro552=)
19g.15187286T=CA2324747703NOTCH3c.1659A= (p.Pro553=)
c.1656A= (p.Pro552=)
19g.15187287G>ACA404525987NOTCH3c.1658C>T (p.Pro553Leu)
c.1655C>T (p.Pro552Leu)
 gnomAD v4
19g.15187287G>CCA404525985NOTCH3c.1658C>G (p.Pro553Arg)
c.1655C>G (p.Pro552Arg)
19g.15187287G>TCA404525988NOTCH3c.1658C>A (p.Pro553Gln)
c.1655C>A (p.Pro552Gln)
19g.15187288G>ACA404525989NOTCH3c.1657C>T (p.Pro553Ser)
c.1654C>T (p.Pro552Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187288G>CCA404525992NOTCH3c.1657C>G (p.Pro553Ala)
c.1654C>G (p.Pro552Ala)
19g.15187288G=CA2324747704NOTCH3c.1657C= (p.Pro553=)
c.1654C= (p.Pro552=)
19g.15187288G>TCA404525990NOTCH3c.1657C>A (p.Pro553Thr)
c.1654C>A (p.Pro552Thr)
 dbSNP
19g.15187289G>ACA505827338NOTCH3c.1656C>T (p.Asp552=)
c.1653C>T (p.Asp551=)
 dbSNP gnomAD v2
19g.15187289G>CCA404525994NOTCH3c.1656C>G (p.Asp552Glu)
c.1653C>G (p.Asp551Glu)
19g.15187289G=CA2324747705NOTCH3c.1656C= (p.Asp552=)
c.1653C= (p.Asp551=)
19g.15187289G>TCA404525995NOTCH3c.1656C>A (p.Asp552Glu)
c.1653C>A (p.Asp551Glu)
19g.15187290T>ACA404525997NOTCH3c.1655A>T (p.Asp552Val)
c.1652A>T (p.Asp551Val)
 dbSNP
19g.15187290T>CCA305774991NOTCH3c.1655A>G (p.Asp552Gly)
c.1652A>G (p.Asp551Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187290T>GCA404525999NOTCH3c.1655A>C (p.Asp552Ala)
c.1652A>C (p.Asp551Ala)
 dbSNP
19g.15187290T=CA2324747706NOTCH3c.1655A= (p.Asp552=)
c.1652A= (p.Asp551=)
19g.15187291C>ACA404526001NOTCH3c.1654G>T (p.Asp552Tyr)
c.1651G>T (p.Asp551Tyr)
 gnomAD v4
19g.15187291C>GCA404526002NOTCH3c.1654G>C (p.Asp552His)
c.1651G>C (p.Asp551His)
19g.15187291C>TCA404526004NOTCH3c.1654G>A (p.Asp552Asn)
c.1651G>A (p.Asp551Asn)
19g.15187291_15187292delinsCACA2324747707NOTCH3c.1653_1654delinsTG (p.Pro551=)
c.1650_1651delinsTG (p.Pro550=)
19g.15187292delCA631945094NOTCH3c.1653del (p.Asp552ThrfsTer?)
c.1650del (p.Asp551ThrfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187292A>CCA505827339NOTCH3c.1653T>G (p.Pro551=)
c.1650T>G (p.Pro550=)
19g.15187292A>GCA505827340NOTCH3c.1653T>C (p.Pro551=)
c.1650T>C (p.Pro550=)
 dbSNP
19g.15187292A>TCA505827341NOTCH3c.1653T>A (p.Pro551=)
c.1650T>A (p.Pro550=)
19g.15187293G>ACA404526006NOTCH3c.1652C>T (p.Pro551Leu)
c.1649C>T (p.Pro550Leu)
19g.15187293G>CCA404526008NOTCH3c.1652C>G (p.Pro551Arg)
c.1649C>G (p.Pro550Arg)
19g.15187293G>TCA404526009NOTCH3c.1652C>A (p.Pro551His)
c.1649C>A (p.Pro550His)
19g.15187294G>ACA9263589NOTCH3c.1651C>T (p.Pro551Ser)
c.1648C>T (p.Pro550Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187294G>CCA404526013NOTCH3c.1651C>G (p.Pro551Ala)
c.1648C>G (p.Pro550Ala)
19g.15187294G=CA2324747708NOTCH3c.1651C= (p.Pro551=)
c.1648C= (p.Pro550=)
19g.15187294G>TCA404526011NOTCH3c.1651C>A (p.Pro551Thr)
c.1648C>A (p.Pro550Thr)
19g.15187295G>ACA305775005NOTCH3c.1650C>T (p.Ser550=)
c.1647C>T (p.Ser549=)
 dbSNP gnomAD v4
19g.15187295G>CCA505827342NOTCH3c.1650C>G (p.Ser550=)
c.1647C>G (p.Ser549=)
19g.15187295G=CA2324747709NOTCH3c.1650C= (p.Ser550=)
c.1647C= (p.Ser549=)
19g.15187295G>TCA505827343NOTCH3c.1650C>A (p.Ser550=)
c.1647C>A (p.Ser549=)
19g.15187296G>ACA404526015NOTCH3c.1649C>T (p.Ser550Phe)
c.1646C>T (p.Ser549Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.15187296G>CCA404526016NOTCH3c.1649C>G (p.Ser550Cys)
c.1646C>G (p.Ser549Cys)
19g.15187296G=CA2324747710NOTCH3c.1649C= (p.Ser550=)
c.1646C= (p.Ser549=)
19g.15187296G>TCA404526018NOTCH3c.1649C>A (p.Ser550Tyr)
c.1646C>A (p.Ser549Tyr)
19g.15187297A>CCA404526019NOTCH3c.1648T>G (p.Ser550Ala)
c.1645T>G (p.Ser549Ala)
19g.15187297A>GCA404526021NOTCH3c.1648T>C (p.Ser550Pro)
c.1645T>C (p.Ser549Pro)
19g.15187297A>TCA404526023NOTCH3c.1648T>A (p.Ser550Thr)
c.1645T>A (p.Ser549Thr)
19g.15187298G>ACA505827344NOTCH3c.1647C>T (p.Cys549=)
c.1644C>T (p.Cys548=)
19g.15187298G>CCA404526024NOTCH3c.1647C>G (p.Cys549Trp)
c.1644C>G (p.Cys548Trp)
19g.15187298G>TCA404526026NOTCH3c.1647C>A (p.Cys549Ter)
c.1644C>A (p.Cys548Ter)
19g.15187299C>ACA404526028NOTCH3c.1646G>T (p.Cys549Phe)
c.1643G>T (p.Cys548Phe)
 dbSNP
19g.15187299C=CA2324747711NOTCH3c.1646G= (p.Cys549=)
c.1643G= (p.Cys548=)
19g.15187299C>GCA404526029NOTCH3c.1646G>C (p.Cys549Ser)
c.1643G>C (p.Cys548Ser)
 ClinVar
19g.15187299C>TCA404526030NOTCH3c.1646G>A (p.Cys549Tyr)
c.1643G>A (p.Cys548Tyr)
 ClinVar dbSNP
19g.15187300A>CCA404526035NOTCH3c.1645T>G (p.Cys549Gly)
c.1642T>G (p.Cys548Gly)
19g.15187300A>GCA404526033NOTCH3c.1645T>C (p.Cys549Arg)
c.1642T>C (p.Cys548Arg)
19g.15187300A>TCA404526031NOTCH3c.1645T>A (p.Cys549Ser)
c.1642T>A (p.Cys548Ser)
19g.15187301G>ACA505827345NOTCH3c.1644C>T (p.Asp548=)
c.1641C>T (p.Asp547=)
 dbSNP gnomAD v3 gnomAD v4
19g.15187301G>CCA404526036NOTCH3c.1644C>G (p.Asp548Glu)
c.1641C>G (p.Asp547Glu)
 dbSNP
19g.15187301G=CA2324747712NOTCH3c.1644C= (p.Asp548=)
c.1641C= (p.Asp547=)
19g.15187301G>TCA404526037NOTCH3c.1644C>A (p.Asp548Glu)
c.1641C>A (p.Asp547Glu)
19g.15187302T>ACA404526038NOTCH3c.1643A>T (p.Asp548Val)
c.1640A>T (p.Asp547Val)
19g.15187302T>CCA404526039NOTCH3c.1643A>G (p.Asp548Gly)
c.1640A>G (p.Asp547Gly)
19g.15187302T>GCA404526040NOTCH3c.1643A>C (p.Asp548Ala)
c.1640A>C (p.Asp547Ala)
19g.15187303C>ACA404526041NOTCH3c.1642G>T (p.Asp548Tyr)
c.1639G>T (p.Asp547Tyr)
19g.15187303C=CA2324747713NOTCH3c.1642G= (p.Asp548=)
c.1639G= (p.Asp547=)
19g.15187303C>GCA404526042NOTCH3c.1642G>C (p.Asp548His)
c.1639G>C (p.Asp547His)
 dbSNP
19g.15187303C>TCA305775009NOTCH3c.1642G>A (p.Asp548Asn)
c.1639G>A (p.Asp547Asn)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15187304G>ACA9263590NOTCH3c.1641C>T (p.Asp547=)
c.1638C>T (p.Asp546=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187304G>CCA404526045NOTCH3c.1641C>G (p.Asp547Glu)
c.1638C>G (p.Asp546Glu)
 gnomAD v4
19g.15187304G=CA2324747714NOTCH3c.1641C= (p.Asp547=)
c.1638C= (p.Asp546=)
19g.15187304G>TCA404526047NOTCH3c.1641C>A (p.Asp547Glu)
c.1638C>A (p.Asp546Glu)
 gnomAD v4
19g.15187305T>ACA404526052NOTCH3c.1640A>T (p.Asp547Val)
c.1637A>T (p.Asp546Val)
19g.15187305T>CCA404526051NOTCH3c.1640A>G (p.Asp547Gly)
c.1637A>G (p.Asp546Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.15187305T>GCA404526049NOTCH3c.1640A>C (p.Asp547Ala)
c.1637A>C (p.Asp546Ala)
19g.15187305T=CA2324747715NOTCH3c.1640A= (p.Asp547=)
c.1637A= (p.Asp546=)
19g.15187306C>ACA404526053NOTCH3c.1639G>T (p.Asp547Tyr)
c.1636G>T (p.Asp546Tyr)
 dbSNP gnomAD v4
19g.15187306C>GCA404526055NOTCH3c.1639G>C (p.Asp547His)
c.1636G>C (p.Asp546His)
 dbSNP
19g.15187306C>TCA404526057NOTCH3c.1639G>A (p.Asp547Asn)
c.1636G>A (p.Asp546Asn)
19g.15187307C>ACA505827346NOTCH3c.1638G>T (p.Val546=)
c.1635G>T (p.Val545=)
19g.15187307C=CA2324747716NOTCH3c.1638G= (p.Val546=)
c.1635G= (p.Val545=)
19g.15187307C>GCA505827347NOTCH3c.1638G>C (p.Val546=)
c.1635G>C (p.Val545=)
19g.15187307C>TCA9263591NOTCH3c.1638G>A (p.Val546=)
c.1635G>A (p.Val545=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187308A=CA2324747717NOTCH3c.1637T= (p.Val546=)
c.1634T= (p.Val545=)
19g.15187308A>CCA404526059NOTCH3c.1637T>G (p.Val546Gly)
c.1634T>G (p.Val545Gly)
19g.15187308A>GCA404526060NOTCH3c.1637T>C (p.Val546Ala)
c.1634T>C (p.Val545Ala)
 dbSNP gnomAD v3 gnomAD v4
19g.15187308A>TCA404526062NOTCH3c.1637T>A (p.Val546Glu)
c.1634T>A (p.Val545Glu)
19g.15187309C>ACA404526064NOTCH3c.1636G>T (p.Val546Leu)
c.1633G>T (p.Val545Leu)
19g.15187309C=CA2324747718NOTCH3c.1636G= (p.Val546=)
c.1633G= (p.Val545=)
19g.15187309C>GCA404526065NOTCH3c.1636G>C (p.Val546Leu)
c.1633G>C (p.Val545Leu)
19g.15187309C>TCA9263592NOTCH3c.1636G>A (p.Val546Met)
c.1633G>A (p.Val545Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187310G>ACA9263593NOTCH3c.1635C>T (p.Asn545=)
c.1632C>T (p.Asn544=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.15187310G>CCA404526068NOTCH3c.1635C>G (p.Asn545Lys)
c.1632C>G (p.Asn544Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.15187310G=CA2324747719NOTCH3c.1635C= (p.Asn545=)
c.1632C= (p.Asn544=)
19g.15187310G>TCA404526069NOTCH3c.1635C>A (p.Asn545Lys)
c.1632C>A (p.Asn544Lys)
19g.15187311T>ACA305775011NOTCH3c.1634A>T (p.Asn545Ile)
c.1631A>T (p.Asn544Ile)
 dbSNP gnomAD v4
19g.15187311T>CCA404526073NOTCH3c.1634A>G (p.Asn545Ser)
c.1631A>G (p.Asn544Ser)
 dbSNP
19g.15187311T>GCA404526071NOTCH3c.1634A>C (p.Asn545Thr)
c.1631A>C (p.Asn544Thr)
19g.15187311T=CA2324747720NOTCH3c.1634A= (p.Asn545=)
c.1631A= (p.Asn544=)
19g.15187312T>ACA404526077NOTCH3c.1633A>T (p.Asn545Tyr)
c.1630A>T (p.Asn544Tyr)
 gnomAD v4
19g.15187312T>CCA404526074NOTCH3c.1633A>G (p.Asn545Asp)
c.1630A>G (p.Asn544Asp)
19g.15187312T>GCA404526075NOTCH3c.1633A>C (p.Asn545His)
c.1630A>C (p.Asn544His)
19g.15187313G>ACA505827348NOTCH3c.1632C>T (p.Arg544=)
c.1629C>T (p.Arg543=)
19g.15187313G>CCA505827349NOTCH3c.1632C>G (p.Arg544=)
c.1629C>G (p.Arg543=)
19g.15187313G>TCA505827350NOTCH3c.1632C>A (p.Arg544=)
c.1629C>A (p.Arg543=)
19g.15187314C>ACA404526078NOTCH3c.1631G>T (p.Arg544Leu)
c.1628G>T (p.Arg543Leu)
19g.15187314C=CA2324747721NOTCH3c.1631G= (p.Arg544=)
c.1628G= (p.Arg543=)
19g.15187314C>GCA404526080NOTCH3c.1631G>C (p.Arg544Pro)
c.1628G>C (p.Arg543Pro)
19g.15187314C>TCA9263594NOTCH3c.1631G>A (p.Arg544His)
c.1628G>A (p.Arg543His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187315G>ACA9263595NOTCH3c.1630C>T (p.Arg544Cys)
c.1627C>T (p.Arg543Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.15187315G>CCA404526087NOTCH3c.1630C>G (p.Arg544Gly)
c.1627C>G (p.Arg543Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.15187315G=CA2324747722NOTCH3c.1630C= (p.Arg544=)
c.1627C= (p.Arg543=)
19g.15187315G>TCA404526089NOTCH3c.1630C>A (p.Arg544Ser)
c.1627C>A (p.Arg543Ser)
 dbSNP gnomAD v4 COSMIC COSMIC
19g.15187316A=CA2324747723NOTCH3c.1629T= (p.Asp543=)
c.1626T= (p.Asp542=)
19g.15187316A>CCA404526091NOTCH3c.1629T>G (p.Asp543Glu)
c.1626T>G (p.Asp542Glu)
 dbSNP
19g.15187316A>GCA505827351NOTCH3c.1629T>C (p.Asp543=)
c.1626T>C (p.Asp542=)
 dbSNP gnomAD v2 gnomAD v4
19g.15187316A>TCA404526092NOTCH3c.1629T>A (p.Asp543Glu)
c.1626T>A (p.Asp542Glu)
19g.15187317T>ACA404526094NOTCH3c.1628A>T (p.Asp543Val)
c.1625A>T (p.Asp542Val)
 gnomAD v4
19g.15187317T>CCA404526096NOTCH3c.1628A>G (p.Asp543Gly)
c.1625A>G (p.Asp542Gly)
19g.15187317T>GCA404526097NOTCH3c.1628A>C (p.Asp543Ala)
c.1625A>C (p.Asp542Ala)
19g.15187318C>ACA404526100NOTCH3c.1627G>T (p.Asp543Tyr)
c.1624G>T (p.Asp542Tyr)
19g.15187318C>GCA404526098NOTCH3c.1627G>C (p.Asp543His)
c.1624G>C (p.Asp542His)
19g.15187318C>TCA404526099NOTCH3c.1627G>A (p.Asp543Asn)
c.1624G>A (p.Asp542Asn)
19g.15187319A>CCA404526101NOTCH3c.1626T>G (p.Cys542Trp)
c.1623T>G (p.Cys541Trp)
19g.15187319A>GCA505827352NOTCH3c.1626T>C (p.Cys542=)
c.1623T>C (p.Cys541=)
19g.15187319A>TCA404526103NOTCH3c.1626T>A (p.Cys542Ter)
c.1623T>A (p.Cys541Ter)
19g.15187320C>ACA404526106NOTCH3c.1625G>T (p.Cys542Phe)
c.1622G>T (p.Cys541Phe)
19g.15187320C>GCA404526107NOTCH3c.1625G>C (p.Cys542Ser)
c.1622G>C (p.Cys541Ser)
19g.15187320C>TCA404526109NOTCH3c.1625G>A (p.Cys542Tyr)
c.1622G>A (p.Cys541Tyr)
 ClinVar

Number of alleles fetched