Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5045796G>ACA383466935KCNA5c.1649G>A (p.Arg550Lys)
gnomAD v4
12g.5045796G>CCA383466934KCNA5c.1649G>C (p.Arg550Thr)
COSMIC
12g.5045796G>TCA383466933KCNA5c.1649G>T (p.Arg550Ile)
12g.5045797A=CA2013431397KCNA5c.1650A= (p.Arg550=)
12g.5045797A>CCA383466936KCNA5c.1650A>C (p.Arg550Ser)
ClinVar dbSNP
12g.5045797A>GCA6399913KCNA5c.1650A>G (p.Arg550=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045797A>TCA383466937KCNA5c.1650A>T (p.Arg550Ser)
12g.5045798G>ACA231869249KCNA5c.1651G>A (p.Gly551Arg)
ClinVar dbSNP
12g.5045798G>CCA383466938KCNA5c.1651G>C (p.Gly551Arg)
12g.5045798G=CA2013431398KCNA5c.1651G= (p.Gly551=)
12g.5045798G>TCA383466939KCNA5c.1651G>T (p.Gly551Ter)
gnomAD v4
12g.5045799G>ACA383466940KCNA5c.1652G>A (p.Gly551Glu)
gnomAD v4
12g.5045799G>CCA383466941KCNA5c.1652G>C (p.Gly551Ala)
12g.5045799G>TCA383466942KCNA5c.1652G>T (p.Gly551Val)
12g.5045800A>CCA478095809KCNA5c.1653A>C (p.Gly551=)
gnomAD v4
12g.5045800A>GCA478095810KCNA5c.1653A>G (p.Gly551=)
12g.5045800A>TCA478095811KCNA5c.1653A>T (p.Gly551=)
12g.5045801G>ACA383466943KCNA5c.1654G>A (p.Val552Ile)
gnomAD v4
12g.5045801G>CCA383466944KCNA5c.1654G>C (p.Val552Leu)
gnomAD v4
12g.5045801G>TCA383466945KCNA5c.1654G>T (p.Val552Phe)
12g.5045802T>ACA383466948KCNA5c.1655T>A (p.Val552Asp)
gnomAD v4
12g.5045802T>CCA383466946KCNA5c.1655T>C (p.Val552Ala)
gnomAD v4
12g.5045802T>GCA383466947KCNA5c.1655T>G (p.Val552Gly)
12g.5045803C>ACA478095813KCNA5c.1656C>A (p.Val552=)
12g.5045803C=CA2013431399KCNA5c.1656C= (p.Val552=)
12g.5045803C>GCA478095815KCNA5c.1656C>G (p.Val552=)
dbSNP gnomAD v2 gnomAD v4
12g.5045803C>TCA478095817KCNA5c.1656C>T (p.Val552=)
COSMIC
12g.5045804C>ACA383466949KCNA5c.1657C>A (p.Gln553Lys)
dbSNP gnomAD v2 gnomAD v4
12g.5045804C=CA2013431400KCNA5c.1657C= (p.Gln553=)
12g.5045804C>GCA383466950KCNA5c.1657C>G (p.Gln553Glu)
12g.5045804C>TCA383466951KCNA5c.1657C>T (p.Gln553Ter)
12g.5045805A=CA2013431401KCNA5c.1658A= (p.Gln553=)
12g.5045805A>CCA383466952KCNA5c.1658A>C (p.Gln553Pro)
gnomAD v4
12g.5045805A>GCA383466953KCNA5c.1658A>G (p.Gln553Arg)
gnomAD v4
12g.5045805A>TCA383466954KCNA5c.1658A>T (p.Gln553Leu)
dbSNP gnomAD v3 gnomAD v4
12g.5045806G>ACA478095819KCNA5c.1659G>A (p.Gln553=)
gnomAD v4
12g.5045806G>CCA383466955KCNA5c.1659G>C (p.Gln553His)
12g.5045806G>TCA383466956KCNA5c.1659G>T (p.Gln553His)
COSMIC
12g.5045807C>ACA6399915KCNA5c.1660C>A (p.Arg554=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045807C=CA2013431402KCNA5c.1660C= (p.Arg554=)
12g.5045807C>GCA383466957KCNA5c.1660C>G (p.Arg554Gly)
12g.5045807C>TCA6399914KCNA5c.1660C>T (p.Arg554Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045808G>ACA6399916KCNA5c.1661G>A (p.Arg554Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045808G>CCA383466959KCNA5c.1661G>C (p.Arg554Pro)
dbSNP gnomAD v2 gnomAD v4
12g.5045808G=CA2013431403KCNA5c.1661G= (p.Arg554=)
12g.5045808G>TCA383466958KCNA5c.1661G>T (p.Arg554Leu)
12g.5045809G>ACA478095825KCNA5c.1662G>A (p.Arg554=)
COSMIC
12g.5045809G>CCA478095826KCNA5c.1662G>C (p.Arg554=)
ClinVar dbSNP gnomAD v4
12g.5045809G>TCA478095827KCNA5c.1662G>T (p.Arg554=)
12g.5045810A>CCA383466960KCNA5c.1663A>C (p.Lys555Gln)
12g.5045810A>GCA383466962KCNA5c.1663A>G (p.Lys555Glu)
12g.5045810A>TCA383466961KCNA5c.1663A>T (p.Lys555Ter)
COSMIC
12g.5045811A>CCA383466963KCNA5c.1664A>C (p.Lys555Thr)
12g.5045811A>GCA383466965KCNA5c.1664A>G (p.Lys555Arg)
12g.5045811A>TCA383466964KCNA5c.1664A>T (p.Lys555Met)
12g.5045812G>ACA478095829KCNA5c.1665G>A (p.Lys555=)
gnomAD v4
12g.5045812G>CCA383466966KCNA5c.1665G>C (p.Lys555Asn)
12g.5045812G>TCA383466967KCNA5c.1665G>T (p.Lys555Asn)
12g.5045813G>ACA383466968KCNA5c.1666G>A (p.Val556Ile)
12g.5045813G>CCA383466969KCNA5c.1666G>C (p.Val556Leu)
12g.5045813G>TCA383466970KCNA5c.1666G>T (p.Val556Phe)
ClinVar
12g.5045814T>ACA383466971KCNA5c.1667T>A (p.Val556Asp)
12g.5045814T>CCA383466972KCNA5c.1667T>C (p.Val556Ala)
12g.5045814T>GCA383466973KCNA5c.1667T>G (p.Val556Gly)
dbSNP
12g.5045814T=CA2013431404KCNA5c.1667T= (p.Val556=)
12g.5045814dupCA2575052199KCNA5c.1667dup (p.Ser557GlnfsTer?)
ClinVar gnomAD v4
12g.5045815C>ACA478095832KCNA5c.1668C>A (p.Val556=)
12g.5045815C>GCA478095833KCNA5c.1668C>G (p.Val556=)
12g.5045815C>TCA478095835KCNA5c.1668C>T (p.Val556=)
12g.5045816A=CA2013431405KCNA5c.1669A= (p.Ser557=)
12g.5045816A>CCA383466974KCNA5c.1669A>C (p.Ser557Arg)
12g.5045816A>GCA383466975KCNA5c.1669A>G (p.Ser557Gly)
dbSNP gnomAD v4
12g.5045816A>TCA383466976KCNA5c.1669A>T (p.Ser557Cys)
12g.5045817G>ACA6399918KCNA5c.1670G>A (p.Ser557Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045817G>CCA6399917KCNA5c.1670G>C (p.Ser557Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045817G=CA2013431406KCNA5c.1670G= (p.Ser557=)
12g.5045817G>TCA383466977KCNA5c.1670G>T (p.Ser557Ile)
gnomAD v4
12g.5045818C>ACA6399919KCNA5c.1671C>A (p.Ser557Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045818C=CA2013431407KCNA5c.1671C= (p.Ser557=)
12g.5045818C>GCA383466978KCNA5c.1671C>G (p.Ser557Arg)
12g.5045818C>TCA478095837KCNA5c.1671C>T (p.Ser557=)
gnomAD v4 COSMIC
12g.5045819G>ACA6399920KCNA5c.1672G>A (p.Gly558Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045819G>CCA383466979KCNA5c.1672G>C (p.Gly558Arg)
12g.5045819G=CA2013431408KCNA5c.1672G= (p.Gly558=)
12g.5045819G>TCA383466980KCNA5c.1672G>T (p.Gly558Trp)
12g.5045820G>ACA383466981KCNA5c.1673G>A (p.Gly558Glu)
12g.5045820G>CCA383466982KCNA5c.1673G>C (p.Gly558Ala)
12g.5045820G>TCA383466983KCNA5c.1673G>T (p.Gly558Val)
12g.5045821G>ACA478095841KCNA5c.1674G>A (p.Gly558=)
12g.5045821G>CCA478095840KCNA5c.1674G>C (p.Gly558=)
gnomAD v4
12g.5045821G>TCA478095839KCNA5c.1674G>T (p.Gly558=)
12g.5045822A>CCA383466984KCNA5c.1675A>C (p.Ser559Arg)
12g.5045822A>GCA383466985KCNA5c.1675A>G (p.Ser559Gly)
12g.5045822A>TCA383466986KCNA5c.1675A>T (p.Ser559Cys)
12g.5045823G>ACA383466989KCNA5c.1676G>A (p.Ser559Asn)
gnomAD v4
12g.5045823G>CCA383466988KCNA5c.1676G>C (p.Ser559Thr)
12g.5045823G>TCA383466987KCNA5c.1676G>T (p.Ser559Ile)
12g.5045824C>ACA383466990KCNA5c.1677C>A (p.Ser559Arg)
12g.5045824C=CA2013431409KCNA5c.1677C= (p.Ser559=)
12g.5045824C>GCA383466991KCNA5c.1677C>G (p.Ser559Arg)
dbSNP gnomAD v2 gnomAD v4
12g.5045824C>TCA231869273KCNA5c.1677C>T (p.Ser559=)
dbSNP gnomAD v3 gnomAD v4
12g.5045825A>CCA478095845KCNA5c.1678A>C (p.Arg560=)
12g.5045825A>GCA383466992KCNA5c.1678A>G (p.Arg560Gly)
12g.5045825A>TCA383466993KCNA5c.1678A>T (p.Arg560Trp)
12g.5045826G>ACA383466994KCNA5c.1679G>A (p.Arg560Lys)
gnomAD v4
12g.5045826G>CCA383466995KCNA5c.1679G>C (p.Arg560Thr)
12g.5045826G>TCA383466996KCNA5c.1679G>T (p.Arg560Met)
gnomAD v4
12g.5045827G>ACA6399921KCNA5c.1680G>A (p.Arg560=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045827G>CCA383466997KCNA5c.1680G>C (p.Arg560Ser)
12g.5045827G=CA2013431410KCNA5c.1680G= (p.Arg560=)
12g.5045827G>TCA383466998KCNA5c.1680G>T (p.Arg560Ser)
12g.5045828G>ACA383466999KCNA5c.1681G>A (p.Gly561Arg)
gnomAD v4
12g.5045828G>CCA383467000KCNA5c.1681G>C (p.Gly561Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045828G=CA2013431411KCNA5c.1681G= (p.Gly561=)
12g.5045828G>TCA383467001KCNA5c.1681G>T (p.Gly561Ter)
12g.5045829G>ACA383467004KCNA5c.1682G>A (p.Gly561Glu)
dbSNP gnomAD v3 gnomAD v4
12g.5045829G>CCA383467002KCNA5c.1682G>C (p.Gly561Ala)
12g.5045829G=CA2013431412KCNA5c.1682G= (p.Gly561=)
12g.5045829G>TCA383467003KCNA5c.1682G>T (p.Gly561Val)
gnomAD v4
12g.5045830A=CA2013431413KCNA5c.1683A= (p.Gly561=)
12g.5045830A>CCA478095849KCNA5c.1683A>C (p.Gly561=)
12g.5045830A>GCA478095847KCNA5c.1683A>G (p.Gly561=)
gnomAD v4
12g.5045830A>TCA478095848KCNA5c.1683A>T (p.Gly561=)
dbSNP gnomAD v3 gnomAD v4
12g.5045831T>ACA6399922KCNA5c.1684T>A (p.Ser562Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045831T>CCA383467005KCNA5c.1684T>C (p.Ser562Pro)
12g.5045831T>GCA383467006KCNA5c.1684T>G (p.Ser562Ala)
12g.5045831T=CA2013431414KCNA5c.1684T= (p.Ser562=)
12g.5045832C>ACA383467007KCNA5c.1685C>A (p.Ser562Tyr)
12g.5045832C>GCA383467008KCNA5c.1685C>G (p.Ser562Cys)
12g.5045832C>TCA383467009KCNA5c.1685C>T (p.Ser562Phe)
gnomAD v4 COSMIC
12g.5045833delCA2695215942KCNA5c.1686del (p.Phe563SerfsTer21)
12g.5045833C>ACA478095850KCNA5c.1686C>A (p.Ser562=)
12g.5045833C=CA2013431415KCNA5c.1686C= (p.Ser562=)
12g.5045833C>GCA478095851KCNA5c.1686C>G (p.Ser562=)
12g.5045833C>TCA478095852KCNA5c.1686C>T (p.Ser562=)
dbSNP gnomAD v3 gnomAD v4
12g.5045834T>ACA383467010KCNA5c.1687T>A (p.Phe563Ile)
dbSNP gnomAD v2 gnomAD v4
12g.5045834T>CCA383467011KCNA5c.1687T>C (p.Phe563Leu)
12g.5045834T>GCA383467012KCNA5c.1687T>G (p.Phe563Val)
12g.5045834T=CA2013431416KCNA5c.1687T= (p.Phe563=)
12g.5045835T>ACA383467013KCNA5c.1688T>A (p.Phe563Tyr)
12g.5045835T>CCA383467014KCNA5c.1688T>C (p.Phe563Ser)
12g.5045835T>GCA383467015KCNA5c.1688T>G (p.Phe563Cys)
12g.5045836C>ACA383467017KCNA5c.1689C>A (p.Phe563Leu)
12g.5045836C>GCA383467016KCNA5c.1689C>G (p.Phe563Leu)
12g.5045836C>TCA478095853KCNA5c.1689C>T (p.Phe563=)
12g.5045837T>ACA383467018KCNA5c.1690T>A (p.Cys564Ser)
12g.5045837T>CCA383467019KCNA5c.1690T>C (p.Cys564Arg)
dbSNP gnomAD v2 gnomAD v4
12g.5045837T>GCA383467020KCNA5c.1690T>G (p.Cys564Gly)
12g.5045837T=CA2013431417KCNA5c.1690T= (p.Cys564=)
12g.5045838G>ACA231869276KCNA5c.1691G>A (p.Cys564Tyr)
dbSNP
12g.5045838G>CCA383467021KCNA5c.1691G>C (p.Cys564Ser)
12g.5045838G=CA2013431418KCNA5c.1691G= (p.Cys564=)
12g.5045838G>TCA383467022KCNA5c.1691G>T (p.Cys564Phe)
12g.5045839C>ACA383467023KCNA5c.1692C>A (p.Cys564Ter)
12g.5045839C>GCA383467024KCNA5c.1692C>G (p.Cys564Trp)
12g.5045839C>TCA478095855KCNA5c.1692C>T (p.Cys564=)
gnomAD v4
12g.5045840A=CA2013431419KCNA5c.1693A= (p.Lys565=)
12g.5045840A>CCA383467025KCNA5c.1693A>C (p.Lys565Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5045840A>GCA383467026KCNA5c.1693A>G (p.Lys565Glu)
12g.5045840A>TCA383467027KCNA5c.1693A>T (p.Lys565Ter)
12g.5045841A>CCA383467028KCNA5c.1694A>C (p.Lys565Thr)
12g.5045841A>GCA383467029KCNA5c.1694A>G (p.Lys565Arg)
12g.5045841A>TCA383467030KCNA5c.1694A>T (p.Lys565Met)
12g.5045842G>ACA6399923KCNA5c.1695G>A (p.Lys565=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045842G>CCA383467032KCNA5c.1695G>C (p.Lys565Asn)
dbSNP COSMIC
12g.5045842G=CA2013431420KCNA5c.1695G= (p.Lys565=)
12g.5045842G>TCA383467031KCNA5c.1695G>T (p.Lys565Asn)
12g.5045843G>ACA383467033KCNA5c.1696G>A (p.Ala566Thr)
dbSNP gnomAD v3 gnomAD v4
12g.5045843G>CCA383467034KCNA5c.1696G>C (p.Ala566Pro)
ClinVar dbSNP
12g.5045843G>TCA383467035KCNA5c.1696G>T (p.Ala566Ser)
12g.5045843_5045845delinsGCTCA2013431421KCNA5c.1696_1698delinsGCT (p.Ala566=)
12g.5045844C>ACA383467036KCNA5c.1697C>A (p.Ala566Asp)
12g.5045844C>GCA383467037KCNA5c.1697C>G (p.Ala566Gly)
12g.5045844C>TCA383467038KCNA5c.1697C>T (p.Ala566Val)
12g.5045844_5045845delCA6399924KCNA5c.1697_1698del (p.Ala566GlyfsTer21)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045845T>ACA478095859KCNA5c.1698T>A (p.Ala566=)
dbSNP gnomAD v3 gnomAD v4
12g.5045845T>CCA478095860KCNA5c.1698T>C (p.Ala566=)
12g.5045845T>GCA478095861KCNA5c.1698T>G (p.Ala566=)
dbSNP
12g.5045845T=CA2013431422KCNA5c.1698T= (p.Ala566=)
12g.5045845_5045846delinsTGCA2013431423KCNA5c.1698_1699delinsTG (p.Ala566=)
12g.5045846G>ACA383467039KCNA5c.1699G>A (p.Gly567Arg)
gnomAD v4
12g.5045846G>CCA6399925KCNA5c.1699G>C (p.Gly567Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045846G=CA2013431425KCNA5c.1699G= (p.Gly567=)
12g.5045846G>TCA383467040KCNA5c.1699G>T (p.Gly567Trp)
12g.5045851dupCA2013431424KCNA5c.1704dup (p.Thr569AspfsTer19)
ClinVar dbSNP gnomAD v4
12g.5045851delCA919011889KCNA5c.1704del (p.Thr569ProfsTer15)
dbSNP gnomAD v4
12g.5045847G>ACA383467041KCNA5c.1700G>A (p.Gly567Glu)
ClinVar dbSNP gnomAD v4
12g.5045847G>CCA383467042KCNA5c.1700G>C (p.Gly567Ala)
12g.5045847G=CA2013431426KCNA5c.1700G= (p.Gly567=)
12g.5045847G>TCA383467043KCNA5c.1700G>T (p.Gly567Val)
12g.5045848G>ACA6399926KCNA5c.1701G>A (p.Gly567=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045848G>CCA478095863KCNA5c.1701G>C (p.Gly567=)
12g.5045848G=CA2013431427KCNA5c.1701G= (p.Gly567=)
12g.5045848G>TCA478095864KCNA5c.1701G>T (p.Gly567=)
COSMIC
12g.5045849G>ACA383467045KCNA5c.1702G>A (p.Gly568Arg)
dbSNP gnomAD v4
12g.5045849G>CCA383467046KCNA5c.1702G>C (p.Gly568Arg)
12g.5045849G=CA2013431428KCNA5c.1702G= (p.Gly568=)
12g.5045849G>TCA383467044KCNA5c.1702G>T (p.Gly568Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.5045850G>ACA383467047KCNA5c.1703G>A (p.Gly568Glu)
gnomAD v4
12g.5045850G>CCA6399928KCNA5c.1703G>C (p.Gly568Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045850G=CA2013431429KCNA5c.1703G= (p.Gly568=)
12g.5045850G>TCA6399927KCNA5c.1703G>T (p.Gly568Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045851G>ACA478095866KCNA5c.1704G>A (p.Gly568=)
dbSNP gnomAD v2 gnomAD v4
12g.5045851G>CCA478095867KCNA5c.1704G>C (p.Gly568=)
12g.5045851G=CA2013431430KCNA5c.1704G= (p.Gly568=)
12g.5045851G>TCA478095868KCNA5c.1704G>T (p.Gly568=)
dbSNP gnomAD v4
12g.5045852A>CCA383467048KCNA5c.1705A>C (p.Thr569Pro)
12g.5045852A>GCA383467049KCNA5c.1705A>G (p.Thr569Ala)
12g.5045852A>TCA383467050KCNA5c.1705A>T (p.Thr569Ser)
gnomAD v4
12g.5045853C>ACA383467051KCNA5c.1706C>A (p.Thr569Asn)
12g.5045853C=CA2013431431KCNA5c.1706C= (p.Thr569=)
12g.5045853C>GCA383467052KCNA5c.1706C>G (p.Thr569Ser)
12g.5045853C>TCA383467053KCNA5c.1706C>T (p.Thr569Ile)
dbSNP
12g.5045854C>ACA231869311KCNA5c.1707C>A (p.Thr569=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5045854C=CA2013431432KCNA5c.1707C= (p.Thr569=)
12g.5045854C>GCA478095870KCNA5c.1707C>G (p.Thr569=)
12g.5045854C>TCA6399929KCNA5c.1707C>T (p.Thr569=)
dbSNP ExAC
12g.5045855C>ACA383467054KCNA5c.1708C>A (p.Leu570Met)
12g.5045855C=CA2013431433KCNA5c.1708C= (p.Leu570=)
12g.5045855C>GCA6399930KCNA5c.1708C>G (p.Leu570Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045855C>TCA478095871KCNA5c.1708C>T (p.Leu570=)
12g.5045856T>ACA383467057KCNA5c.1709T>A (p.Leu570Gln)
12g.5045856T>CCA383467056KCNA5c.1709T>C (p.Leu570Pro)
COSMIC
12g.5045856T>GCA383467055KCNA5c.1709T>G (p.Leu570Arg)
12g.5045857G>ACA478095875KCNA5c.1710G>A (p.Leu570=)
12g.5045857G>CCA478095876KCNA5c.1710G>C (p.Leu570=)
12g.5045857G>TCA478095877KCNA5c.1710G>T (p.Leu570=)
12g.5045858G>ACA383467058KCNA5c.1711G>A (p.Glu571Lys)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.5045858G>CCA383467059KCNA5c.1711G>C (p.Glu571Gln)
dbSNP
12g.5045858G=CA2013431434KCNA5c.1711G= (p.Glu571=)
12g.5045858G>TCA383467060KCNA5c.1711G>T (p.Glu571Ter)
12g.5045859A>CCA383467061KCNA5c.1712A>C (p.Glu571Ala)
12g.5045859A>GCA383467062KCNA5c.1712A>G (p.Glu571Gly)
12g.5045859A>TCA383467063KCNA5c.1712A>T (p.Glu571Val)
12g.5045860G>ACA6399931KCNA5c.1713G>A (p.Glu571=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045860G>CCA383467064KCNA5c.1713G>C (p.Glu571Asp)
12g.5045860G=CA2013431435KCNA5c.1713G= (p.Glu571=)
12g.5045860G>TCA383467065KCNA5c.1713G>T (p.Glu571Asp)
12g.5045861A>CCA383467066KCNA5c.1714A>C (p.Asn572His)
12g.5045861A>GCA383467067KCNA5c.1714A>G (p.Asn572Asp)
12g.5045861A>TCA383467068KCNA5c.1714A>T (p.Asn572Tyr)
12g.5045862A>CCA383467069KCNA5c.1715A>C (p.Asn572Thr)
12g.5045862A>GCA383467071KCNA5c.1715A>G (p.Asn572Ser)
12g.5045862A>TCA383467070KCNA5c.1715A>T (p.Asn572Ile)
12g.5045863T>ACA383467072KCNA5c.1716T>A (p.Asn572Lys)
12g.5045863T>CCA478095878KCNA5c.1716T>C (p.Asn572=)
12g.5045863T>GCA383467073KCNA5c.1716T>G (p.Asn572Lys)
dbSNP gnomAD v3 gnomAD v4
12g.5045863T=CA2013431436KCNA5c.1716T= (p.Asn572=)
12g.5045864G>ACA6399932KCNA5c.1717G>A (p.Ala573Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045864G>CCA383467075KCNA5c.1717G>C (p.Ala573Pro)
12g.5045864G=CA2013431437KCNA5c.1717G= (p.Ala573=)
12g.5045864G>TCA383467074KCNA5c.1717G>T (p.Ala573Ser)
12g.5045865C>ACA383467076KCNA5c.1718C>A (p.Ala573Glu)
gnomAD v4
12g.5045865C>GCA383467077KCNA5c.1718C>G (p.Ala573Gly)
12g.5045865C>TCA383467078KCNA5c.1718C>T (p.Ala573Val)
12g.5045866A>CCA478095881KCNA5c.1719A>C (p.Ala573=)
12g.5045866A>GCA478095882KCNA5c.1719A>G (p.Ala573=)
12g.5045866A>TCA478095884KCNA5c.1719A>T (p.Ala573=)
12g.5045867G>ACA383467079KCNA5c.1720G>A (p.Asp574Asn)
12g.5045867G>CCA383467080KCNA5c.1720G>C (p.Asp574His)
12g.5045867G>TCA383467081KCNA5c.1720G>T (p.Asp574Tyr)
12g.5045868A=CA2013431438KCNA5c.1721A= (p.Asp574=)
12g.5045868A>CCA383467082KCNA5c.1721A>C (p.Asp574Ala)
12g.5045868A>GCA383467083KCNA5c.1721A>G (p.Asp574Gly)
dbSNP gnomAD v2 gnomAD v4
12g.5045868A>TCA6399933KCNA5c.1721A>T (p.Asp574Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045869C>ACA383467084KCNA5c.1722C>A (p.Asp574Glu)
12g.5045869C>GCA383467085KCNA5c.1722C>G (p.Asp574Glu)
12g.5045869C>TCA478095885KCNA5c.1722C>T (p.Asp574=)
12g.5045870A>CCA383467088KCNA5c.1723A>C (p.Ser575Arg)
12g.5045870A>GCA383467086KCNA5c.1723A>G (p.Ser575Gly)
12g.5045870A>TCA383467087KCNA5c.1723A>T (p.Ser575Cys)
12g.5045871G>ACA231869329KCNA5c.1724G>A (p.Ser575Asn)
dbSNP gnomAD v4
12g.5045871G>CCA231869334KCNA5c.1724G>C (p.Ser575Thr)
dbSNP gnomAD v3 gnomAD v4
12g.5045871G=CA2013431439KCNA5c.1724G= (p.Ser575=)
12g.5045871G>TCA383467089KCNA5c.1724G>T (p.Ser575Ile)
12g.5045872T>ACA383467090KCNA5c.1725T>A (p.Ser575Arg)
12g.5045872T>CCA478095886KCNA5c.1725T>C (p.Ser575=)
gnomAD v4
12g.5045872T>GCA383467091KCNA5c.1725T>G (p.Ser575Arg)
gnomAD v4
12g.5045872T=CA2013431440KCNA5c.1725T= (p.Ser575=)
12g.5045873G>ACA383467092KCNA5c.1726G>A (p.Ala576Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5045873G>CCA383467093KCNA5c.1726G>C (p.Ala576Pro)
12g.5045873G=CA2013431441KCNA5c.1726G= (p.Ala576=)
12g.5045873G>TCA383467094KCNA5c.1726G>T (p.Ala576Ser)
12g.5045873dupCA944256541KCNA5c.1726dup (p.Ala576GlyfsTer12)
dbSNP gnomAD v3 gnomAD v4
12g.5045874C>ACA383467095KCNA5c.1727C>A (p.Ala576Asp)
12g.5045874C=CA2013431442KCNA5c.1727C= (p.Ala576=)
12g.5045874C>GCA383467096KCNA5c.1727C>G (p.Ala576Gly)
12g.5045874C>TCA123126KCNA5c.1727C>T (p.Ala576Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045875C>ACA478095887KCNA5c.1728C>A (p.Ala576=)
12g.5045875C>GCA478095888KCNA5c.1728C>G (p.Ala576=)
12g.5045875C>TCA478095889KCNA5c.1728C>T (p.Ala576=)
gnomAD v4
12g.5045876C>ACA478095890KCNA5c.1729C>A (p.Arg577=)
12g.5045876C=CA2013431443KCNA5c.1729C= (p.Arg577=)
12g.5045876C>GCA383467097KCNA5c.1729C>G (p.Arg577Gly)
12g.5045876C>TCA6399934KCNA5c.1729C>T (p.Arg577Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045877G>ACA6399935KCNA5c.1730G>A (p.Arg577Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.5045877G>CCA383467098KCNA5c.1730G>C (p.Arg577Pro)
12g.5045877G=CA2013431444KCNA5c.1730G= (p.Arg577=)
12g.5045877G>TCA383467099KCNA5c.1730G>T (p.Arg577Leu)
gnomAD v4
12g.5045878A>CCA478095891KCNA5c.1731A>C (p.Arg577=)
12g.5045878A>GCA478095892KCNA5c.1731A>G (p.Arg577=)
12g.5045878A>TCA478095893KCNA5c.1731A>T (p.Arg577=)
12g.5045879A>CCA478095894KCNA5c.1732A>C (p.Arg578=)
12g.5045879A>GCA383467100KCNA5c.1732A>G (p.Arg578Gly)
12g.5045879A>TCA383467101KCNA5c.1732A>T (p.Arg578Trp)
12g.5045880G>ACA199951KCNA5c.1733G>A (p.Arg578Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5045880G>CCA383467102KCNA5c.1733G>C (p.Arg578Thr)
12g.5045880G=CA2013431445KCNA5c.1733G= (p.Arg578=)
12g.5045880G>TCA383467103KCNA5c.1733G>T (p.Arg578Met)
12g.5045881G>ACA478095895KCNA5c.1734G>A (p.Arg578=)
gnomAD v4
12g.5045881G>CCA383467104KCNA5c.1734G>C (p.Arg578Ser)
12g.5045881G>TCA383467105KCNA5c.1734G>T (p.Arg578Ser)
12g.5045882G>ACA6399936KCNA5c.1735G>A (p.Gly579Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045882G>CCA383467106KCNA5c.1735G>C (p.Gly579Arg)
12g.5045882G=CA2013431446KCNA5c.1735G= (p.Gly579=)
12g.5045882G>TCA383467107KCNA5c.1735G>T (p.Gly579Cys)
12g.5045883G>ACA6399937KCNA5c.1736G>A (p.Gly579Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045883G>CCA383467108KCNA5c.1736G>C (p.Gly579Ala)
12g.5045883G=CA2013431447KCNA5c.1736G= (p.Gly579=)
12g.5045883G>TCA6399938KCNA5c.1736G>T (p.Gly579Val)
dbSNP ExAC gnomAD v2
12g.5045884C>ACA478095896KCNA5c.1737C>A (p.Gly579=)
gnomAD v4
12g.5045884C>GCA478095897KCNA5c.1737C>G (p.Gly579=)
12g.5045884C>TCA478095898KCNA5c.1737C>T (p.Gly579=)
12g.5045885A>CCA383467109KCNA5c.1738A>C (p.Ser580Arg)
12g.5045885A>GCA383467110KCNA5c.1738A>G (p.Ser580Gly)
12g.5045885A>TCA383467111KCNA5c.1738A>T (p.Ser580Cys)
12g.5045886G>ACA383467112KCNA5c.1739G>A (p.Ser580Asn)
12g.5045886G>CCA383467113KCNA5c.1739G>C (p.Ser580Thr)
12g.5045886G>TCA383467114KCNA5c.1739G>T (p.Ser580Ile)
12g.5045887C>ACA383467115KCNA5c.1740C>A (p.Ser580Arg)
12g.5045887C=CA2013431448KCNA5c.1740C= (p.Ser580=)
12g.5045887C>GCA383467116KCNA5c.1740C>G (p.Ser580Arg)
12g.5045887C>TCA6399939KCNA5c.1740C>T (p.Ser580=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5045888T>ACA383467117KCNA5c.1741T>A (p.Cys581Ser)
12g.5045888T>CCA383467118KCNA5c.1741T>C (p.Cys581Arg)
12g.5045888T>GCA383467119KCNA5c.1741T>G (p.Cys581Gly)
12g.5045889G>ACA383467122KCNA5c.1742G>A (p.Cys581Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.5045889G>CCA383467121KCNA5c.1742G>C (p.Cys581Ser)
12g.5045889G=CA2013431449KCNA5c.1742G= (p.Cys581=)
12g.5045889G>TCA383467120KCNA5c.1742G>T (p.Cys581Phe)
12g.5045890C>ACA383467123KCNA5c.1743C>A (p.Cys581Ter)
12g.5045890C=CA2013431450KCNA5c.1743C= (p.Cys581=)
12g.5045890C>GCA383467124KCNA5c.1743C>G (p.Cys581Trp)
12g.5045890C>TCA478095904KCNA5c.1743C>T (p.Cys581=)
dbSNP gnomAD v3 gnomAD v4
12g.5045894delCA2617209928KCNA5c.1747del (p.Leu583Ter)
gnomAD v4
12g.5045891C>ACA6399940KCNA5c.1744C>A (p.Pro582Thr)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.5045891C=CA2013431451KCNA5c.1744C= (p.Pro582=)
12g.5045891C>GCA383467125KCNA5c.1744C>G (p.Pro582Ala)
gnomAD v4
12g.5045891C>TCA383467126KCNA5c.1744C>T (p.Pro582Ser)
gnomAD v4
12g.5045892C>ACA383467127KCNA5c.1745C>A (p.Pro582His)
12g.5045892C=CA2013431452KCNA5c.1745C= (p.Pro582=)
12g.5045892C>GCA383467128KCNA5c.1745C>G (p.Pro582Arg)
dbSNP gnomAD v2 gnomAD v4
12g.5045892C>TCA383467129KCNA5c.1745C>T (p.Pro582Leu)
COSMIC
12g.5045893C>ACA478095905KCNA5c.1746C>A (p.Pro582=)
ClinVar
12g.5045893C>GCA478095906KCNA5c.1746C>G (p.Pro582=)
gnomAD v4
12g.5045893C>TCA478095907KCNA5c.1746C>T (p.Pro582=)
ClinVar gnomAD v4
12g.5045894C>ACA383467130KCNA5c.1747C>A (p.Leu583Ile)
gnomAD v4
12g.5045894C>GCA383467131KCNA5c.1747C>G (p.Leu583Val)
12g.5045894C>TCA478095908KCNA5c.1747C>T (p.Leu583=)
12g.5045895T>ACA383467132KCNA5c.1748T>A (p.Leu583Gln)
12g.5045895T>CCA383467133KCNA5c.1748T>C (p.Leu583Pro)
12g.5045895T>GCA383467134KCNA5c.1748T>G (p.Leu583Arg)
12g.5045896A=CA2013431453KCNA5c.1749A= (p.Leu583=)
12g.5045896A>CCA478095914KCNA5c.1749A>C (p.Leu583=)
12g.5045896A>GCA478095916KCNA5c.1749A>G (p.Leu583=)
dbSNP gnomAD v2 gnomAD v4
12g.5045896A>TCA478095917KCNA5c.1749A>T (p.Leu583=)
dbSNP

Number of alleles fetched