Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.117837153A>CCA462468993EXT1n.478T>G
c.1011T>G (p.Pro337=)
c.379T>G
c.74-1602T>G (n.74-1602T>G)
8g.117837153A>GCA462468992EXT1n.478T>C
c.1011T>C (p.Pro337=)
c.379T>C
c.74-1602T>C (n.74-1602T>C)
8g.117837153A>TCA462468991EXT1n.478T>A
c.1011T>A (p.Pro337=)
c.379T>A
c.74-1602T>A (n.74-1602T>A)
8g.117837154G>ACA371893303EXT1n.477C>T
c.1010C>T (p.Pro337Leu)
c.378C>T
c.74-1603C>T (n.74-1603C>T)
 dbSNP gnomAD v4
8g.117837154G>CCA371893301EXT1n.477C>G
c.1010C>G (p.Pro337Arg)
c.378C>G
c.74-1603C>G (n.74-1603C>G)
 ClinVar dbSNP
8g.117837154G=CA1813957395EXT1n.477C=
c.1010C= (p.Pro337=)
c.378C=
c.74-1603C= (n.74-1603C=)
8g.117837154G>TCA371893302EXT1n.477C>A
c.1010C>A (p.Pro337His)
c.378C>A
c.74-1603C>A (n.74-1603C>A)
8g.117837155G>ACA371893304EXT1n.476C>T
c.1009C>T (p.Pro337Ser)
c.377C>T
c.74-1604C>T (n.74-1604C>T)
 dbSNP
8g.117837155G>CCA371893305EXT1n.476C>G
c.1009C>G (p.Pro337Ala)
c.377C>G
c.74-1604C>G (n.74-1604C>G)
8g.117837155G>TCA371893306EXT1n.476C>A
c.1009C>A (p.Pro337Thr)
c.377C>A
c.74-1604C>A (n.74-1604C>A)
8g.117837156A>CCA462468994EXT1n.475T>G
c.1008T>G (p.Val336=)
c.376T>G
c.74-1605T>G (n.74-1605T>G)
8g.117837156A>GCA462468995EXT1n.475T>C
c.1008T>C (p.Val336=)
c.376T>C
c.74-1605T>C (n.74-1605T>C)
8g.117837156A>TCA462468996EXT1n.475T>A
c.1008T>A (p.Val336=)
c.376T>A
c.74-1605T>A (n.74-1605T>A)
8g.117837157A=CA1813957396EXT1n.474T=
c.1007T= (p.Val336=)
c.375T=
c.74-1606T= (n.74-1606T=)
8g.117837157A>CCA371893307EXT1n.474T>G
c.1007T>G (p.Val336Gly)
c.375T>G
c.74-1606T>G (n.74-1606T>G)
8g.117837157A>GCA184298072EXT1n.474T>C
c.1007T>C (p.Val336Ala)
c.375T>C
c.74-1606T>C (n.74-1606T>C)
 dbSNP gnomAD v4
8g.117837157A>TCA371893308EXT1n.474T>A
c.1007T>A (p.Val336Asp)
c.375T>A
c.74-1606T>A (n.74-1606T>A)
8g.117837158C>ACA371893309EXT1n.473G>T
c.1006G>T (p.Val336Phe)
c.374G>T
c.74-1607G>T (n.74-1607G>T)
8g.117837158C=CA1813957397EXT1n.473G=
c.1006G= (p.Val336=)
c.374G=
c.74-1607G= (n.74-1607G=)
8g.117837158C>GCA371893310EXT1n.473G>C
c.1006G>C (p.Val336Leu)
c.374G>C
c.74-1607G>C (n.74-1607G>C)
8g.117837158C>TCA4854268EXT1n.473G>A
c.1006G>A (p.Val336Ile)
c.374G>A
c.74-1607G>A (n.74-1607G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837159delCA2695210041EXT1n.473del
c.1006del (p.Val336PhefsTer23)
c.374del
c.74-1607del (n.74-1607del)
8g.117837159C>ACA462468997EXT1n.472G>T
c.1005G>T (p.Leu335=)
c.373G>T
c.74-1608G>T (n.74-1608G>T)
8g.117837159C>GCA462468998EXT1n.472G>C
c.1005G>C (p.Leu335=)
c.373G>C
c.74-1608G>C (n.74-1608G>C)
8g.117837159C>TCA462468999EXT1n.472G>A
c.1005G>A (p.Leu335=)
c.373G>A
c.74-1608G>A (n.74-1608G>A)
 dbSNP
8g.117837160A>CCA371893311EXT1n.471T>G
c.1004T>G (p.Leu335Arg)
c.372T>G
c.74-1609T>G (n.74-1609T>G)
8g.117837160A>GCA371893312EXT1n.471T>C
c.1004T>C (p.Leu335Pro)
c.372T>C
c.74-1609T>C (n.74-1609T>C)
8g.117837160A>TCA371893313EXT1n.471T>A
c.1004T>A (p.Leu335Gln)
c.372T>A
c.74-1609T>A (n.74-1609T>A)
8g.117837161G>ACA462469000EXT1n.470C>T
c.1003C>T (p.Leu335=)
c.371C>T
c.74-1610C>T (n.74-1610C>T)
8g.117837161G>CCA371893314EXT1n.470C>G
c.1003C>G (p.Leu335Val)
c.371C>G
c.74-1610C>G (n.74-1610C>G)
8g.117837161G>TCA371893315EXT1n.470C>A
c.1003C>A (p.Leu335Met)
c.371C>A
c.74-1610C>A (n.74-1610C>A)
 COSMIC
8g.117837162A>CCA371893316EXT1n.469T>G
c.1002T>G (p.Cys334Trp)
c.370T>G
c.74-1611T>G (n.74-1611T>G)
8g.117837162A>GCA462469001EXT1n.469T>C
c.1002T>C (p.Cys334=)
c.370T>C
c.74-1611T>C (n.74-1611T>C)
8g.117837162A>TCA371893317EXT1n.469T>A
c.1002T>A (p.Cys334Ter)
c.370T>A
c.74-1611T>A (n.74-1611T>A)
8g.117837163C>ACA4854270EXT1n.468G>T
c.1001G>T (p.Cys334Phe)
c.369G>T
c.74-1612G>T (n.74-1612G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837163C=CA1813957398EXT1n.468G=
c.1001G= (p.Cys334=)
c.369G=
c.74-1612G= (n.74-1612G=)
8g.117837163C>GCA371893318EXT1n.468G>C
c.1001G>C (p.Cys334Ser)
c.369G>C
c.74-1612G>C (n.74-1612G>C)
 COSMIC
8g.117837163C>TCA4854269EXT1n.468G>A
c.1001G>A (p.Cys334Tyr)
c.369G>A
c.74-1612G>A (n.74-1612G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837164A=CA1813957399EXT1n.467T=
c.1000T= (p.Cys334=)
c.368T=
c.74-1613T= (n.74-1613T=)
8g.117837164A>CCA371893319EXT1n.467T>G
c.1000T>G (p.Cys334Gly)
c.368T>G
c.74-1613T>G (n.74-1613T>G)
8g.117837164A>GCA371893320EXT1n.467T>C
c.1000T>C (p.Cys334Arg)
c.368T>C
c.74-1613T>C (n.74-1613T>C)
 ClinVar dbSNP
8g.117837164A>TCA371893321EXT1n.467T>A
c.1000T>A (p.Cys334Ser)
c.368T>A
c.74-1613T>A (n.74-1613T>A)
8g.117837164_117837169delCA2499219104EXT1n.462_467del
c.995_1000del (p.Thr332_Cys334delinsSer)
c.363_368del
c.74-1618_74-1613del (n.74-1618_74-1613del)
 ClinVar dbSNP
8g.117837165G>ACA462469002EXT1n.466C>T
c.999C>T (p.Phe333=)
c.367C>T
c.74-1614C>T (n.74-1614C>T)
8g.117837165G>CCA371893322EXT1n.466C>G
c.999C>G (p.Phe333Leu)
c.367C>G
c.74-1614C>G (n.74-1614C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117837165G=CA1813957400EXT1n.466C=
c.999C= (p.Phe333=)
c.367C=
c.74-1614C= (n.74-1614C=)
8g.117837165G>TCA184298100EXT1n.466C>A
c.999C>A (p.Phe333Leu)
c.367C>A
c.74-1614C>A (n.74-1614C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.117837166A=CA1813957401EXT1n.465T=
c.998T= (p.Phe333=)
c.366T=
c.74-1615T= (n.74-1615T=)
8g.117837166A>CCA371893324EXT1n.465T>G
c.998T>G (p.Phe333Cys)
c.366T>G
c.74-1615T>G (n.74-1615T>G)
8g.117837166A>GCA371893325EXT1n.465T>C
c.998T>C (p.Phe333Ser)
c.366T>C
c.74-1615T>C (n.74-1615T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.117837166A>TCA371893326EXT1n.465T>A
c.998T>A (p.Phe333Tyr)
c.366T>A
c.74-1615T>A (n.74-1615T>A)
8g.117837168delCA2695210042EXT1n.465del
c.998del (p.Phe333SerfsTer26)
c.366del
c.74-1615del (n.74-1615del)
8g.117837167A>CCA371893329EXT1n.464T>G
c.997T>G (p.Phe333Val)
c.365T>G
c.74-1616T>G (n.74-1616T>G)
8g.117837167A>GCA371893327EXT1n.464T>C
c.997T>C (p.Phe333Leu)
c.365T>C
c.74-1616T>C (n.74-1616T>C)
8g.117837167A>TCA371893328EXT1n.464T>A
c.997T>A (p.Phe333Ile)
c.365T>A
c.74-1616T>A (n.74-1616T>A)
8g.117837168A>CCA462469003EXT1n.463T>G
c.996T>G (p.Thr332=)
c.364T>G
c.74-1617T>G (n.74-1617T>G)
8g.117837168A>GCA462469004EXT1n.463T>C
c.996T>C (p.Thr332=)
c.364T>C
c.74-1617T>C (n.74-1617T>C)
8g.117837168A>TCA462469005EXT1n.463T>A
c.996T>A (p.Thr332=)
c.364T>A
c.74-1617T>A (n.74-1617T>A)
8g.117837169G>ACA371893330EXT1n.462C>T
c.995C>T (p.Thr332Ile)
c.363C>T
c.74-1618C>T (n.74-1618C>T)
 dbSNP
8g.117837169G>CCA371893331EXT1n.462C>G
c.995C>G (p.Thr332Ser)
c.363C>G
c.74-1618C>G (n.74-1618C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.117837169G=CA1813957402EXT1n.462C=
c.995C= (p.Thr332=)
c.363C=
c.74-1618C= (n.74-1618C=)
8g.117837169G>TCA371893332EXT1n.462C>A
c.995C>A (p.Thr332Asn)
c.363C>A
c.74-1618C>A (n.74-1618C>A)
8g.117837170T>ACA371893333EXT1n.461A>T
c.994A>T (p.Thr332Ser)
c.362A>T
c.74-1619A>T (n.74-1619A>T)
 dbSNP gnomAD v2 gnomAD v4
8g.117837170T>CCA371893334EXT1n.461A>G
c.994A>G (p.Thr332Ala)
c.362A>G
c.74-1619A>G (n.74-1619A>G)
8g.117837170T>GCA371893335EXT1n.461A>C
c.994A>C (p.Thr332Pro)
c.362A>C
c.74-1619A>C (n.74-1619A>C)
8g.117837170T=CA1813957403EXT1n.461A=
c.994A= (p.Thr332=)
c.362A=
c.74-1619A= (n.74-1619A=)
8g.117837171G>ACA462469006EXT1n.460C>T
c.993C>T (p.Ala331=)
c.361C>T
c.74-1620C>T (n.74-1620C>T)
 dbSNP gnomAD v4
8g.117837171G>CCA462469007EXT1n.460C>G
c.993C>G (p.Ala331=)
c.361C>G
c.74-1620C>G (n.74-1620C>G)
8g.117837171G=CA1813957404EXT1n.460C=
c.993C= (p.Ala331=)
c.361C=
c.74-1620C= (n.74-1620C=)
8g.117837171G>TCA462469008EXT1n.460C>A
c.993C>A (p.Ala331=)
c.361C>A
c.74-1620C>A (n.74-1620C>A)
8g.117837172G>ACA371893336EXT1n.459C>T
c.992C>T (p.Ala331Val)
c.360C>T
c.74-1621C>T (n.74-1621C>T)
 dbSNP COSMIC
8g.117837172G>CCA371893337EXT1n.459C>G
c.992C>G (p.Ala331Gly)
c.360C>G
c.74-1621C>G (n.74-1621C>G)
8g.117837172G=CA1813957405EXT1n.459C=
c.992C= (p.Ala331=)
c.360C=
c.74-1621C= (n.74-1621C=)
8g.117837172G>TCA371893338EXT1n.459C>A
c.992C>A (p.Ala331Asp)
c.360C>A
c.74-1621C>A (n.74-1621C>A)
 ClinVar dbSNP
8g.117837173C>ACA371893339EXT1n.458G>T
c.991G>T (p.Ala331Ser)
c.359G>T
c.74-1622G>T (n.74-1622G>T)
8g.117837173C>GCA371893340EXT1n.458G>C
c.991G>C (p.Ala331Pro)
c.359G>C
c.74-1622G>C (n.74-1622G>C)
8g.117837173C>TCA371893341EXT1n.458G>A
c.991G>A (p.Ala331Thr)
c.359G>A
c.74-1622G>A (n.74-1622G>A)
8g.117837174A=CA1813957406EXT1n.457T=
c.990T= (p.Asn330=)
c.358T=
c.74-1623T= (n.74-1623T=)
8g.117837174A>CCA371893342EXT1n.457T>G
c.990T>G (p.Asn330Lys)
c.358T>G
c.74-1623T>G (n.74-1623T>G)
8g.117837174A>GCA462469009EXT1n.457T>C
c.990T>C (p.Asn330=)
c.358T>C
c.74-1623T>C (n.74-1623T>C)
 dbSNP
8g.117837174A>TCA371893343EXT1n.457T>A
c.990T>A (p.Asn330Lys)
c.358T>A
c.74-1623T>A (n.74-1623T>A)
8g.117837175T>ACA371893344EXT1n.456A>T
c.989A>T (p.Asn330Ile)
c.357A>T
c.74-1624A>T (n.74-1624A>T)
8g.117837175T>CCA371893346EXT1n.456A>G
c.989A>G (p.Asn330Ser)
c.357A>G
c.74-1624A>G (n.74-1624A>G)
 gnomAD v4
8g.117837175T>GCA371893345EXT1n.456A>C
c.989A>C (p.Asn330Thr)
c.357A>C
c.74-1624A>C (n.74-1624A>C)
8g.117837175T=CA1813957407EXT1n.456A=
c.989A= (p.Asn330=)
c.357A=
c.74-1624A= (n.74-1624A=)
8g.117837175_117837176insGACA891843292EXT1n.455_456insTC
c.988_989insTC (p.Asn330IlefsTer30)
c.356_357insTC
c.74-1625_74-1624insTC (n.74-1625_74-1624insTC)
 ClinVar dbSNP
8g.117837176T>ACA371893347EXT1n.455A>T
c.988A>T (p.Asn330Tyr)
c.356A>T
c.74-1625A>T (n.74-1625A>T)
8g.117837176T>CCA371893348EXT1n.455A>G
c.988A>G (p.Asn330Asp)
c.356A>G
c.74-1625A>G (n.74-1625A>G)
8g.117837176T>GCA371893349EXT1n.455A>C
c.988A>C (p.Asn330His)
c.356A>C
c.74-1625A>C (n.74-1625A>C)
8g.117837177G>ACA462469010EXT1n.454C>T
c.987C>T (p.His329=)
c.355C>T
c.74-1626C>T (n.74-1626C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.117837177G>CCA371893350EXT1n.454C>G
c.987C>G (p.His329Gln)
c.355C>G
c.74-1626C>G (n.74-1626C>G)
 gnomAD v4
8g.117837177G=CA1813957408EXT1n.454C=
c.987C= (p.His329=)
c.355C=
c.74-1626C= (n.74-1626C=)
8g.117837177G>TCA371893351EXT1n.454C>A
c.987C>A (p.His329Gln)
c.355C>A
c.74-1626C>A (n.74-1626C>A)
8g.117837178T>ACA371893352EXT1n.453A>T
c.986A>T (p.His329Leu)
c.354A>T
c.74-1627A>T (n.74-1627A>T)
8g.117837178T>CCA371893353EXT1n.453A>G
c.986A>G (p.His329Arg)
c.354A>G
c.74-1627A>G (n.74-1627A>G)
 dbSNP gnomAD v4
8g.117837178T>GCA4854271EXT1n.453A>C
c.986A>C (p.His329Pro)
c.354A>C
c.74-1627A>C (n.74-1627A>C)
 dbSNP ExAC gnomAD v2
8g.117837178T=CA1813957409EXT1n.453A=
c.986A= (p.His329=)
c.354A=
c.74-1627A= (n.74-1627A=)
8g.117837179G>ACA371893354EXT1n.452C>T
c.985C>T (p.His329Tyr)
c.353C>T
c.74-1628C>T (n.74-1628C>T)
8g.117837179G>CCA371893355EXT1n.452C>G
c.985C>G (p.His329Asp)
c.353C>G
c.74-1628C>G (n.74-1628C>G)
8g.117837179G>TCA371893356EXT1n.452C>A
c.985C>A (p.His329Asn)
c.353C>A
c.74-1628C>A (n.74-1628C>A)
8g.117837180C>ACA462469011EXT1n.451G>T
c.984G>T (p.Leu328=)
c.352G>T
c.74-1629G>T (n.74-1629G>T)
8g.117837180C>GCA462469012EXT1n.451G>C
c.984G>C (p.Leu328=)
c.352G>C
c.74-1629G>C (n.74-1629G>C)
8g.117837180C>TCA462469013EXT1n.451G>A
c.984G>A (p.Leu328=)
c.352G>A
c.74-1629G>A (n.74-1629G>A)
 dbSNP
8g.117837181A>CCA371893359EXT1n.450T>G
c.983T>G (p.Leu328Arg)
c.351T>G
c.74-1630T>G (n.74-1630T>G)
8g.117837181A>GCA371893358EXT1n.450T>C
c.983T>C (p.Leu328Pro)
c.351T>C
c.74-1630T>C (n.74-1630T>C)
 gnomAD v4
8g.117837181A>TCA371893357EXT1n.450T>A
c.983T>A (p.Leu328Gln)
c.351T>A
c.74-1630T>A (n.74-1630T>A)
8g.117837182G>ACA4854272EXT1n.449C>T
c.982C>T (p.Leu328=)
c.350C>T
c.74-1631C>T (n.74-1631C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837182G>CCA371893360EXT1n.449C>G
c.982C>G (p.Leu328Val)
c.350C>G
c.74-1631C>G (n.74-1631C>G)
8g.117837182G=CA1813957410EXT1n.449C=
c.982C= (p.Leu328=)
c.350C=
c.74-1631C= (n.74-1631C=)
8g.117837182G>TCA371893361EXT1n.449C>A
c.982C>A (p.Leu328Met)
c.350C>A
c.74-1631C>A (n.74-1631C>A)
8g.117837183C>ACA371893362EXT1n.448G>T
c.981G>T (p.Met327Ile)
c.349G>T
c.74-1632G>T (n.74-1632G>T)
8g.117837183C>GCA371893363EXT1n.448G>C
c.981G>C (p.Met327Ile)
c.349G>C
c.74-1632G>C (n.74-1632G>C)
8g.117837183C>TCA371893364EXT1n.448G>A
c.981G>A (p.Met327Ile)
c.349G>A
c.74-1632G>A (n.74-1632G>A)
 gnomAD v4
8g.117837184A=CA1813957411EXT1n.447T=
c.980T= (p.Met327=)
c.348T=
c.74-1633T= (n.74-1633T=)
8g.117837184A>CCA371893365EXT1n.447T>G
c.980T>G (p.Met327Arg)
c.348T>G
c.74-1633T>G (n.74-1633T>G)
8g.117837184A>GCA371893366EXT1n.447T>C
c.980T>C (p.Met327Thr)
c.348T>C
c.74-1633T>C (n.74-1633T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.117837184A>TCA371893367EXT1n.447T>A
c.980T>A (p.Met327Lys)
c.348T>A
c.74-1633T>A (n.74-1633T>A)
8g.117837185T>ACA371893368EXT1n.446A>T
c.979A>T (p.Met327Leu)
c.347A>T
c.74-1634A>T (n.74-1634A>T)
8g.117837185T>CCA371893369EXT1n.446A>G
c.979A>G (p.Met327Val)
c.347A>G
c.74-1634A>G (n.74-1634A>G)
8g.117837185T>GCA371893370EXT1n.446A>C
c.979A>C (p.Met327Leu)
c.347A>C
c.74-1634A>C (n.74-1634A>C)
8g.117837186T>ACA371893372EXT1n.445A>T
c.978A>T (p.Glu326Asp)
c.346A>T
c.74-1635A>T (n.74-1635A>T)
8g.117837186T>CCA462469015EXT1n.445A>G
c.978A>G (p.Glu326=)
c.346A>G
c.74-1635A>G (n.74-1635A>G)
 ClinVar dbSNP gnomAD v4
8g.117837186T>GCA371893371EXT1n.445A>C
c.978A>C (p.Glu326Asp)
c.346A>C
c.74-1635A>C (n.74-1635A>C)
 gnomAD v4
8g.117837187T>ACA371893373EXT1n.444A>T
c.977A>T (p.Glu326Val)
c.345A>T
c.74-1636A>T (n.74-1636A>T)
8g.117837187T>CCA371893374EXT1n.444A>G
c.977A>G (p.Glu326Gly)
c.345A>G
c.74-1636A>G (n.74-1636A>G)
 ClinVar
8g.117837187T>GCA371893375EXT1n.444A>C
c.977A>C (p.Glu326Ala)
c.345A>C
c.74-1636A>C (n.74-1636A>C)
8g.117837188C>ACA371893376EXT1n.443G>T
c.976G>T (p.Glu326Ter)
c.344G>T
c.74-1637G>T (n.74-1637G>T)
8g.117837188C>GCA371893377EXT1n.443G>C
c.976G>C (p.Glu326Gln)
c.344G>C
c.74-1637G>C (n.74-1637G>C)
8g.117837188C>TCA371893378EXT1n.443G>A
c.976G>A (p.Glu326Lys)
c.344G>A
c.74-1637G>A (n.74-1637G>A)
8g.117837190delCA2695210043EXT1n.443del
c.976del (p.Glu326LysfsTer?)
c.344del
c.74-1637del (n.74-1637del)
 ClinVar
8g.117837189C>ACA462469017EXT1n.442G>T
c.975G>T (p.Arg325=)
c.343G>T
c.74-1638G>T (n.74-1638G>T)
 dbSNP
8g.117837189C>GCA462469018EXT1n.442G>C
c.975G>C (p.Arg325=)
c.343G>C
c.74-1638G>C (n.74-1638G>C)
8g.117837189C>TCA462469019EXT1n.442G>A
c.975G>A (p.Arg325=)
c.343G>A
c.74-1638G>A (n.74-1638G>A)
 gnomAD v4
8g.117837190C>ACA371893379EXT1n.441G>T
c.974G>T (p.Arg325Leu)
c.342G>T
c.74-1639G>T (n.74-1639G>T)
8g.117837190C=CA1813957412EXT1n.441G=
c.974G= (p.Arg325=)
c.342G=
c.74-1639G= (n.74-1639G=)
8g.117837190C>GCA371893380EXT1n.441G>C
c.974G>C (p.Arg325Pro)
c.342G>C
c.74-1639G>C (n.74-1639G>C)
8g.117837190C>TCA4854273EXT1n.441G>A
c.974G>A (p.Arg325Gln)
c.342G>A
c.74-1639G>A (n.74-1639G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837191_117837197delCA2695210044EXT1n.435_441del
c.968_974del (p.Asp323GlyfsTer?)
c.336_342del
c.74-1645_74-1639del (n.74-1645_74-1639del)
8g.117837191G>ACA371893381EXT1n.440C>T
c.973C>T (p.Arg325Trp)
c.341C>T
c.74-1640C>T (n.74-1640C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.117837191G>CCA371893382EXT1n.440C>G
c.973C>G (p.Arg325Gly)
c.341C>G
c.74-1640C>G (n.74-1640C>G)
8g.117837191G=CA1813957413EXT1n.440C=
c.973C= (p.Arg325=)
c.341C=
c.74-1640C= (n.74-1640C=)
8g.117837191G>TCA462469020EXT1n.440C>A
c.973C>A (p.Arg325=)
c.341C>A
c.74-1640C>A (n.74-1640C>A)
 dbSNP gnomAD v4
8g.117837192A=CA1813957414EXT1n.439T=
c.972T= (p.Tyr324=)
c.340T=
c.74-1641T= (n.74-1641T=)
8g.117837192A>CCA371893383EXT1n.439T>G
c.972T>G (p.Tyr324Ter)
c.340T>G
c.74-1641T>G (n.74-1641T>G)
8g.117837192A>GCA462469021EXT1n.439T>C
c.972T>C (p.Tyr324=)
c.340T>C
c.74-1641T>C (n.74-1641T>C)
 dbSNP
8g.117837192A>TCA371893384EXT1n.439T>A
c.972T>A (p.Tyr324Ter)
c.340T>A
c.74-1641T>A (n.74-1641T>A)
 ClinVar dbSNP
8g.117837195_117837200delCA2695210045EXT1n.434_439del
c.967_972del (p.Asp323_Tyr324del)
c.335_340del
c.74-1646_74-1641del (n.74-1646_74-1641del)
8g.117837193T>ACA371893386EXT1n.438A>T
c.971A>T (p.Tyr324Phe)
c.339A>T
c.74-1642A>T (n.74-1642A>T)
8g.117837193T>CCA184298137EXT1n.438A>G
c.971A>G (p.Tyr324Cys)
c.339A>G
c.74-1642A>G (n.74-1642A>G)
 dbSNP gnomAD v4
8g.117837193T>GCA371893385EXT1n.438A>C
c.971A>C (p.Tyr324Ser)
c.339A>C
c.74-1642A>C (n.74-1642A>C)
8g.117837193T=CA1813957415EXT1n.438A=
c.971A= (p.Tyr324=)
c.339A=
c.74-1642A= (n.74-1642A=)
8g.117837194A>CCA371893387EXT1n.437T>G
c.970T>G (p.Tyr324Asp)
c.338T>G
c.74-1643T>G (n.74-1643T>G)
8g.117837194A>GCA371893388EXT1n.437T>C
c.970T>C (p.Tyr324His)
c.338T>C
c.74-1643T>C (n.74-1643T>C)
8g.117837194A>TCA371893389EXT1n.437T>A
c.970T>A (p.Tyr324Asn)
c.338T>A
c.74-1643T>A (n.74-1643T>A)
8g.117837195A>CCA371893390EXT1n.436T>G
c.969T>G (p.Asp323Glu)
c.337T>G
c.74-1644T>G (n.74-1644T>G)
8g.117837195A>GCA462469022EXT1n.436T>C
c.969T>C (p.Asp323=)
c.337T>C
c.74-1644T>C (n.74-1644T>C)
 ClinVar
8g.117837195A>TCA371893391EXT1n.436T>A
c.969T>A (p.Asp323Glu)
c.337T>A
c.74-1644T>A (n.74-1644T>A)
8g.117837196T>ACA371893394EXT1n.435A>T
c.968A>T (p.Asp323Val)
c.336A>T
c.74-1645A>T (n.74-1645A>T)
8g.117837196T>CCA371893392EXT1n.435A>G
c.968A>G (p.Asp323Gly)
c.336A>G
c.74-1645A>G (n.74-1645A>G)
8g.117837196T>GCA371893393EXT1n.435A>C
c.968A>C (p.Asp323Ala)
c.336A>C
c.74-1645A>C (n.74-1645A>C)
8g.117837196_117837197insTGGCCA2499531210EXT1n.434_435insGCCA
c.967_968insGCCA (p.Asp323GlyfsTer?)
c.335_336insGCCA
c.74-1646_74-1645insGCCA (n.74-1646_74-1645insGCCA)
8g.117837197C>ACA371893395EXT1n.434G>T
c.967G>T (p.Asp323Tyr)
c.335G>T
c.74-1646G>T (n.74-1646G>T)
8g.117837197C>GCA371893396EXT1n.434G>C
c.967G>C (p.Asp323His)
c.335G>C
c.74-1646G>C (n.74-1646G>C)
8g.117837197C>TCA371893397EXT1n.434G>A
c.967G>A (p.Asp323Asn)
c.335G>A
c.74-1646G>A (n.74-1646G>A)
 COSMIC
8g.117837198A=CA1813957416EXT1n.433T=
c.966T= (p.Tyr322=)
c.334T=
c.74-1647T= (n.74-1647T=)
8g.117837198A>CCA371893398EXT1n.433T>G
c.966T>G (p.Tyr322Ter)
c.334T>G
c.74-1647T>G (n.74-1647T>G)
8g.117837198A>GCA462469023EXT1n.433T>C
c.966T>C (p.Tyr322=)
c.334T>C
c.74-1647T>C (n.74-1647T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117837198A>TCA371893399EXT1n.433T>A
c.966T>A (p.Tyr322Ter)
c.334T>A
c.74-1647T>A (n.74-1647T>A)
8g.117837198_117837199insGTTCGCCCTCCGCAAATTCAAACGCAGGCAAGTCTGCCTGTTCGCTTGCCTCACGGCTTTTGCGCGACCACAGCTCAATCATCTTTTCGTAAAACTCAACCTGTCCCATGATTAACGACGATTCTCA2520806373EXT1n.432_433insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC
c.965_966insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC (p.Tyr322Ter)
c.333_334insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC
c.74-1648_74-1647insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC (n.74-1648_74-1647insAGAATCGTCGTTAATCATGGGACAGGTTGAGTTTTACGAAAAGATGATTGAGCTGTGGTCGCGCAAAAGCCGTGAGGCAAGCGAACAGGCAGACTTGCCTGCGTTTGAATTTGCGGAGGGCGAAC)
8g.117837199T>ACA371893400EXT1n.432A>T
c.965A>T (p.Tyr322Phe)
c.333A>T
c.74-1648A>T (n.74-1648A>T)
8g.117837199T>CCA184298142EXT1n.432A>G
c.965A>G (p.Tyr322Cys)
c.333A>G
c.74-1648A>G (n.74-1648A>G)
 dbSNP
8g.117837199T>GCA371893401EXT1n.432A>C
c.965A>C (p.Tyr322Ser)
c.333A>C
c.74-1648A>C (n.74-1648A>C)
8g.117837199T=CA1813957417EXT1n.432A=
c.965A= (p.Tyr322=)
c.333A=
c.74-1648A= (n.74-1648A=)
8g.117837200A>CCA371893402EXT1n.431T>G
c.964T>G (p.Tyr322Asp)
c.332T>G
c.74-1649T>G (n.74-1649T>G)
8g.117837200A>GCA371893404EXT1n.431T>C
c.964T>C (p.Tyr322His)
c.332T>C
c.74-1649T>C (n.74-1649T>C)
8g.117837200A>TCA371893403EXT1n.431T>A
c.964T>A (p.Tyr322Asn)
c.332T>A
c.74-1649T>A (n.74-1649T>A)
8g.117837201C>ACA371893405EXT1n.430G>T
c.963G>T (p.Lys321Asn)
c.331G>T
c.74-1650G>T (n.74-1650G>T)
 dbSNP gnomAD v4
8g.117837201C=CA1813957418EXT1n.430G=
c.963G= (p.Lys321=)
c.331G=
c.74-1650G= (n.74-1650G=)
8g.117837201C>GCA371893406EXT1n.430G>C
c.963G>C (p.Lys321Asn)
c.331G>C
c.74-1650G>C (n.74-1650G>C)
 gnomAD v4
8g.117837201C>TCA4854274EXT1n.430G>A
c.963G>A (p.Lys321=)
c.331G>A
c.74-1650G>A (n.74-1650G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837201_117837202insTTCTCATACTCGGTGTTGTCA2718165322EXT1n.430-1_430insACAACACCGAGTATGAGAA
c.963-1_963insACAACACCGAGTATGAGAA (n.963-1_963insACAACACCGAGTATGAGAA)
c.331-1_331insACAACACCGAGTATGAGAA
c.74-1651_74-1650insACAACACCGAGTATGAGAA (n.74-1651_74-1650insACAACACCGAGTATGAGAA)
 dbSNP
8g.117837202C>ACA371893407EXT1n.430-1G>T
c.963-1G>T (n.963-1G>T)
c.331-1G>T
c.74-1651G>T (n.74-1651G>T)
8g.117837202C=CA1813957419EXT1n.430-1G=
c.963-1G= (n.963-1G=)
c.331-1G=
c.74-1651G= (n.74-1651G=)
8g.117837202C>GCA371893409EXT1n.430-1G>C
c.963-1G>C (n.963-1G>C)
c.331-1G>C
c.74-1651G>C (n.74-1651G>C)
 ClinVar dbSNP
8g.117837202C>TCA371893408EXT1n.430-1G>A
c.963-1G>A (n.963-1G>A)
c.331-1G>A
c.74-1651G>A (n.74-1651G>A)
8g.117837203T>ACA371893410EXT1n.430-2A>T
c.963-2A>T (n.963-2A>T)
c.331-2A>T
c.74-1652A>T (n.74-1652A>T)
8g.117837203T>CCA371893411EXT1n.430-2A>G
c.963-2A>G (n.963-2A>G)
c.331-2A>G
c.74-1652A>G (n.74-1652A>G)
 ClinVar dbSNP
8g.117837203T>GCA371893412EXT1n.430-2A>C
c.963-2A>C (n.963-2A>C)
c.331-2A>C
c.74-1652A>C (n.74-1652A>C)
8g.117837203T=CA1813957420EXT1n.430-2A=
c.963-2A= (n.963-2A=)
c.331-2A=
c.74-1652A= (n.74-1652A=)
8g.117837204A>TCA2688346843EXT1n.430-3T>A
c.963-3T>A (n.963-3T>A)
c.331-3T>A
c.74-1653T>A (n.74-1653T>A)
 gnomAD v4
8g.117837206A>GCA2688346844EXT1n.430-5T>C
c.963-5T>C (n.963-5T>C)
c.331-5T>C
c.74-1655T>C (n.74-1655T>C)
 gnomAD v4
8g.117837208dupCA913128264EXT1n.430-5dup
c.963-5dup (n.963-5dup)
c.331-5dup
c.74-1655dup (n.74-1655dup)
 ClinVar dbSNP
8g.117837206_117837211delinsAAAGAGCA1813957421EXT1n.430-10_430-5delinsCTCTTT
c.963-10_963-5delinsCTCTTT (n.963-10_963-5delinsCTCTTT)
c.331-10_331-5delinsCTCTTT
c.74-1660_74-1655delinsCTCTTT (n.74-1660_74-1655delinsCTCTTT)
8g.117837207A=CA1813957422EXT1n.430-6T=
c.963-6T= (n.963-6T=)
c.331-6T=
c.74-1656T= (n.74-1656T=)
8g.117837207A>GCA584341422EXT1n.430-6T>C
c.963-6T>C (n.963-6T>C)
c.331-6T>C
c.74-1656T>C (n.74-1656T>C)
 dbSNP gnomAD v2 gnomAD v4
8g.117837212_117837216delCA584341419EXT1n.430-10_430-6del
c.963-10_963-6del (n.963-10_963-6del)
c.331-10_331-6del
c.74-1660_74-1656del (n.74-1660_74-1656del)
 dbSNP gnomAD v2 gnomAD v4
8g.117837209G>CCA2688346845EXT1n.430-8C>G
c.963-8C>G (n.963-8C>G)
c.331-8C>G
c.74-1658C>G (n.74-1658C>G)
 gnomAD v4
8g.117837209G>TCA2688346846EXT1n.430-8C>A
c.963-8C>A (n.963-8C>A)
c.331-8C>A
c.74-1658C>A (n.74-1658C>A)
 gnomAD v4
8g.117837210A=CA1813957423EXT1n.430-9T=
c.963-9T= (n.963-9T=)
c.331-9T=
c.74-1659T= (n.74-1659T=)
8g.117837210A>GCA1118345100EXT1n.430-9T>C
c.963-9T>C (n.963-9T>C)
c.331-9T>C
c.74-1659T>C (n.74-1659T>C)
 dbSNP
8g.117837214G>ACA1813957425EXT1n.430-13C>T
c.963-13C>T (n.963-13C>T)
c.331-13C>T
c.74-1663C>T (n.74-1663C>T)
 ClinVar dbSNP gnomAD v4
8g.117837214G>CCA2688346847EXT1n.430-13C>G
c.963-13C>G (n.963-13C>G)
c.331-13C>G
c.74-1663C>G (n.74-1663C>G)
 gnomAD v4
8g.117837214G=CA1813957424EXT1n.430-13C=
c.963-13C= (n.963-13C=)
c.331-13C=
c.74-1663C= (n.74-1663C=)
8g.117837215A=CA1813957426EXT1n.430-14T=
c.963-14T= (n.963-14T=)
c.331-14T=
c.74-1664T= (n.74-1664T=)
8g.117837215A>CCA4854275EXT1n.430-14T>G
c.963-14T>G (n.963-14T>G)
c.331-14T>G
c.74-1664T>G (n.74-1664T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837216G>ACA4854276EXT1n.430-15C>T
c.963-15C>T (n.963-15C>T)
c.331-15C>T
c.74-1665C>T (n.74-1665C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837216G>CCA2688346848EXT1n.430-15C>G
c.963-15C>G (n.963-15C>G)
c.331-15C>G
c.74-1665C>G (n.74-1665C>G)
 gnomAD v4
8g.117837216G=CA1813957427EXT1n.430-15C=
c.963-15C= (n.963-15C=)
c.331-15C=
c.74-1665C= (n.74-1665C=)
8g.117837216G>TCA2688346849EXT1n.430-15C>A
c.963-15C>A (n.963-15C>A)
c.331-15C>A
c.74-1665C>A (n.74-1665C>A)
 gnomAD v4
8g.117837217G>ACA4854277EXT1n.430-16C>T
c.963-16C>T (n.963-16C>T)
c.331-16C>T
c.74-1666C>T (n.74-1666C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837217G=CA1813957428EXT1n.430-16C=
c.963-16C= (n.963-16C=)
c.331-16C=
c.74-1666C= (n.74-1666C=)
8g.117837218A>CCA2688346850EXT1n.430-17T>G
c.963-17T>G (n.963-17T>G)
c.331-17T>G
c.74-1667T>G (n.74-1667T>G)
 gnomAD v4
8g.117837219G>ACA2688346851EXT1n.430-18C>T
c.963-18C>T (n.963-18C>T)
c.331-18C>T
c.74-1668C>T (n.74-1668C>T)
 gnomAD v4
8g.117837219G>CCA2781902119EXT1n.430-18C>G
c.963-18C>G (n.963-18C>G)
c.331-18C>G
c.74-1668C>G (n.74-1668C>G)
8g.117837219G>TCA2688346852EXT1n.430-18C>A
c.963-18C>A (n.963-18C>A)
c.331-18C>A
c.74-1668C>A (n.74-1668C>A)
 gnomAD v4
8g.117837220T>GCA1813957430EXT1n.430-19A>C
c.963-19A>C (n.963-19A>C)
c.331-19A>C
c.74-1669A>C (n.74-1669A>C)
 dbSNP gnomAD v4
8g.117837220T=CA1813957429EXT1n.430-19A=
c.963-19A= (n.963-19A=)
c.331-19A=
c.74-1669A= (n.74-1669A=)
8g.117837221A=CA1813957431EXT1n.430-20T=
c.963-20T= (n.963-20T=)
c.331-20T=
c.74-1670T= (n.74-1670T=)
8g.117837221A>CCA4854278EXT1n.430-20T>G
c.963-20T>G (n.963-20T>G)
c.331-20T>G
c.74-1670T>G (n.74-1670T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837224C>TCA2688346853EXT1n.430-23G>A
c.963-23G>A (n.963-23G>A)
c.331-23G>A
c.74-1673G>A (n.74-1673G>A)
 gnomAD v4
8g.117837226G>ACA2718165355EXT1n.430-25C>T
c.963-25C>T (n.963-25C>T)
c.331-25C>T
c.74-1675C>T (n.74-1675C>T)
 dbSNP
8g.117837226G>TCA2688346854EXT1n.430-25C>A
c.963-25C>A (n.963-25C>A)
c.331-25C>A
c.74-1675C>A (n.74-1675C>A)
 gnomAD v4
8g.117837227C>ACA2718126457EXT1n.430-26G>T
c.963-26G>T (n.963-26G>T)
c.331-26G>T
c.74-1676G>T (n.74-1676G>T)
 dbSNP
8g.117837227C=CA1813957432EXT1n.430-26G=
c.963-26G= (n.963-26G=)
c.331-26G=
c.74-1676G= (n.74-1676G=)
8g.117837227C>TCA846218056EXT1n.430-26G>A
c.963-26G>A (n.963-26G>A)
c.331-26G>A
c.74-1676G>A (n.74-1676G>A)
 dbSNP gnomAD v4
8g.117837228A>GCA2688346855EXT1n.430-27T>C
c.963-27T>C (n.963-27T>C)
c.331-27T>C
c.74-1677T>C (n.74-1677T>C)
 gnomAD v4
8g.117837229_117837230insTGCA2688346856EXT1n.430-29_430-28insCA
c.963-29_963-28insCA (n.963-29_963-28insCA)
c.331-29_331-28insCA
c.74-1679_74-1678insCA (n.74-1679_74-1678insCA)
 gnomAD v4
8g.117837230_117837231insGTCTTCATTTGCCA2688346857EXT1n.430-30_430-29insGCAAATGAAGAC
c.963-30_963-29insGCAAATGAAGAC (n.963-30_963-29insGCAAATGAAGAC)
c.331-30_331-29insGCAAATGAAGAC
c.74-1680_74-1679insGCAAATGAAGAC (n.74-1680_74-1679insGCAAATGAAGAC)
 gnomAD v4
8g.117837231T>CCA2718165358EXT1n.430-30A>G
c.963-30A>G (n.963-30A>G)
c.331-30A>G
c.74-1680A>G (n.74-1680A>G)
 dbSNP
8g.117837231T>GCA2781902121EXT1n.430-30A>C
c.963-30A>C (n.963-30A>C)
c.331-30A>C
c.74-1680A>C (n.74-1680A>C)
8g.117837232G>ACA2579235220EXT1n.430-31C>T
c.963-31C>T (n.963-31C>T)
c.331-31C>T
c.74-1681C>T (n.74-1681C>T)
 gnomAD v4
8g.117837235G>CCA2532960239EXT1n.430-34C>G
c.963-34C>G (n.963-34C>G)
c.331-34C>G
c.74-1684C>G (n.74-1684C>G)
8g.117837235G>TCA2688346858EXT1n.430-34C>A
c.963-34C>A (n.963-34C>A)
c.331-34C>A
c.74-1684C>A (n.74-1684C>A)
 gnomAD v4
8g.117837238T>CCA2688346859EXT1n.430-37A>G
c.963-37A>G (n.963-37A>G)
c.331-37A>G
c.74-1687A>G (n.74-1687A>G)
 gnomAD v4
8g.117837238T>GCA1813957434EXT1n.430-37A>C
c.963-37A>C (n.963-37A>C)
c.331-37A>C
c.74-1687A>C (n.74-1687A>C)
 dbSNP
8g.117837238T=CA1813957433EXT1n.430-37A=
c.963-37A= (n.963-37A=)
c.331-37A=
c.74-1687A= (n.74-1687A=)
8g.117837239C>ACA2688346860EXT1n.430-38G>T
c.963-38G>T (n.963-38G>T)
c.331-38G>T
c.74-1688G>T (n.74-1688G>T)
 gnomAD v4
8g.117837239C>GCA2718165359EXT1n.430-38G>C
c.963-38G>C (n.963-38G>C)
c.331-38G>C
c.74-1688G>C (n.74-1688G>C)
 dbSNP
8g.117837241T>CCA4854279EXT1n.430-40A>G
c.963-40A>G (n.963-40A>G)
c.331-40A>G
c.74-1690A>G (n.74-1690A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837241T=CA1813957435EXT1n.430-40A=
c.963-40A= (n.963-40A=)
c.331-40A=
c.74-1690A= (n.74-1690A=)
8g.117837243G>TCA2688346861EXT1n.430-42C>A
c.963-42C>A (n.963-42C>A)
c.331-42C>A
c.74-1692C>A (n.74-1692C>A)
 gnomAD v4
8g.117837244C>ACA584341502EXT1n.430-43G>T
c.963-43G>T (n.963-43G>T)
c.331-43G>T
c.74-1693G>T (n.74-1693G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.117837244C=CA1813957436EXT1n.430-43G=
c.963-43G= (n.963-43G=)
c.331-43G=
c.74-1693G= (n.74-1693G=)
8g.117837244C>TCA4854280EXT1n.430-43G>A
c.963-43G>A (n.963-43G>A)
c.331-43G>A
c.74-1693G>A (n.74-1693G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837245G>ACA4854281EXT1n.430-44C>T
c.963-44C>T (n.963-44C>T)
c.331-44C>T
c.74-1694C>T (n.74-1694C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.117837245G=CA1813957437EXT1n.430-44C=
c.963-44C= (n.963-44C=)
c.331-44C=
c.74-1694C= (n.74-1694C=)
8g.117837245G>TCA584341503EXT1n.430-44C>A
c.963-44C>A (n.963-44C>A)
c.331-44C>A
c.74-1694C>A (n.74-1694C>A)
 dbSNP gnomAD v2 gnomAD v4
8g.117837246A=CA1813957438EXT1n.430-45T=
c.963-45T= (n.963-45T=)
c.331-45T=
c.74-1695T= (n.74-1695T=)
8g.117837246A>GCA4854282EXT1n.430-45T>C
c.963-45T>C (n.963-45T>C)
c.331-45T>C
c.74-1695T>C (n.74-1695T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837248T>CCA4854283EXT1n.430-47A>G
c.963-47A>G (n.963-47A>G)
c.331-47A>G
c.74-1697A>G (n.74-1697A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.117837248T>GCA1813957440EXT1n.430-47A>C
c.963-47A>C (n.963-47A>C)
c.331-47A>C
c.74-1697A>C (n.74-1697A>C)
 dbSNP gnomAD v4
8g.117837248T=CA1813957439EXT1n.430-47A=
c.963-47A= (n.963-47A=)
c.331-47A=
c.74-1697A= (n.74-1697A=)
8g.117837249G>TCA2579235221EXT1n.430-48C>A
c.963-48C>A (n.963-48C>A)
c.331-48C>A
c.74-1698C>A (n.74-1698C>A)
 gnomAD v4
8g.117837250T>ACA2579235222EXT1n.430-49A>T
c.963-49A>T (n.963-49A>T)
c.331-49A>T
c.74-1699A>T (n.74-1699A>T)
8g.117837251G>TCA2579235223EXT1n.430-50C>A
c.963-50C>A (n.963-50C>A)
c.331-50C>A
c.74-1700C>A (n.74-1700C>A)
 gnomAD v4
8g.117837252G>TCA2688346862EXT1n.430-51C>A
c.963-51C>A (n.963-51C>A)
c.331-51C>A
c.74-1701C>A (n.74-1701C>A)
 gnomAD v4
8g.117837253G>ACA915690496EXT1n.430-52C>T
c.963-52C>T (n.963-52C>T)
c.331-52C>T
c.74-1702C>T (n.74-1702C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.117837253G=CA1813957441EXT1n.430-52C=
c.963-52C= (n.963-52C=)
c.331-52C=
c.74-1702C= (n.74-1702C=)
8g.117837253G>TCA2688346863EXT1n.430-52C>A
c.963-52C>A (n.963-52C>A)
c.331-52C>A
c.74-1702C>A (n.74-1702C>A)
 gnomAD v4

Number of alleles fetched