Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150958251G>ACA369862704KCNH2n.1557C>T
c.724C>T (p.Arg242Cys)
c.376C>T (p.Arg126Cys)
n.947C>T
c.424C>T (p.Arg142Cys)
c.574C>T (p.Arg192Cys)
c.547C>T (p.Arg183Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958251G>CCA008718KCNH2n.1557C>G
c.724C>G (p.Arg242Gly)
c.376C>G (p.Arg126Gly)
n.947C>G
c.424C>G (p.Arg142Gly)
c.574C>G (p.Arg192Gly)
c.547C>G (p.Arg183Gly)
ClinVar dbSNP gnomAD v4
7g.150958251G=CA1752418199KCNH2n.1557C=
c.724C= (p.Arg242=)
c.376C= (p.Arg126=)
n.947C=
c.424C= (p.Arg142=)
c.574C= (p.Arg192=)
c.547C= (p.Arg183=)
7g.150958251G>TCA369862707KCNH2n.1557C>A
c.724C>A (p.Arg242Ser)
c.376C>A (p.Arg126Ser)
n.947C>A
c.424C>A (p.Arg142Ser)
c.574C>A (p.Arg192Ser)
c.547C>A (p.Arg183Ser)
dbSNP gnomAD v4
7g.150958254dupCA658761341KCNH2n.1557dup
c.724dup (p.Arg242ProfsTer?)
c.376dup (p.Arg126ProfsTer?)
n.947dup
c.424dup (p.Arg142ProfsTer?)
c.574dup (p.Arg192ProfsTer?)
c.547dup (p.Arg183ProfsTer?)
7g.150958254delCA2685607926KCNH2n.1557del
c.724del (p.Arg242AlafsTer?)
c.376del (p.Arg126AlafsTer?)
n.947del
c.424del (p.Arg142AlafsTer?)
c.574del (p.Arg192AlafsTer?)
c.547del (p.Arg183AlafsTer?)
gnomAD v4
7g.150958252G>ACA458872171KCNH2n.1556C>T
c.723C>T (p.Pro241=)
c.375C>T (p.Pro125=)
n.946C>T
c.423C>T (p.Pro141=)
c.573C>T (p.Pro191=)
c.546C>T (p.Pro182=)
ClinVar gnomAD v4
7g.150958252G>CCA458872173KCNH2n.1556C>G
c.723C>G (p.Pro241=)
c.375C>G (p.Pro125=)
n.946C>G
c.423C>G (p.Pro141=)
c.573C>G (p.Pro191=)
c.546C>G (p.Pro182=)
7g.150958252G>TCA458872172KCNH2n.1556C>A
c.723C>A (p.Pro241=)
c.375C>A (p.Pro125=)
n.946C>A
c.423C>A (p.Pro141=)
c.573C>A (p.Pro191=)
c.546C>A (p.Pro182=)
gnomAD v4
7g.150958253G>ACA008711KCNH2n.1555C>T
c.722C>T (p.Pro241Leu)
c.374C>T (p.Pro125Leu)
n.945C>T
c.422C>T (p.Pro141Leu)
c.572C>T (p.Pro191Leu)
c.545C>T (p.Pro182Leu)
ClinVar dbSNP gnomAD v4
7g.150958253G>CCA369862710KCNH2n.1555C>G
c.722C>G (p.Pro241Arg)
c.374C>G (p.Pro125Arg)
n.945C>G
c.422C>G (p.Pro141Arg)
c.572C>G (p.Pro191Arg)
c.545C>G (p.Pro182Arg)
dbSNP gnomAD v4
7g.150958253G=CA1752418209KCNH2n.1555C=
c.722C= (p.Pro241=)
c.374C= (p.Pro125=)
n.945C=
c.422C= (p.Pro141=)
c.572C= (p.Pro191=)
c.545C= (p.Pro182=)
7g.150958253G>TCA369862712KCNH2n.1555C>A
c.722C>A (p.Pro241His)
c.374C>A (p.Pro125His)
n.945C>A
c.422C>A (p.Pro141His)
c.572C>A (p.Pro191His)
c.545C>A (p.Pro182His)
gnomAD v4
7g.150958255_150958265delCA2685607947KCNH2n.1545_1555del
c.712_722del (p.Gly238ProfsTer?)
c.364_374del (p.Gly122ProfsTer?)
n.935_945del
c.412_422del (p.Gly138ProfsTer?)
c.562_572del (p.Gly188ProfsTer?)
c.535_545del (p.Gly179ProfsTer?)
gnomAD v4
7g.150958254G>ACA040287KCNH2n.1554C>T
c.721C>T (p.Pro241Ser)
c.373C>T (p.Pro125Ser)
n.944C>T
c.421C>T (p.Pro141Ser)
c.571C>T (p.Pro191Ser)
c.544C>T (p.Pro182Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958254G>CCA369862714KCNH2n.1554C>G
c.721C>G (p.Pro241Ala)
c.373C>G (p.Pro125Ala)
n.944C>G
c.421C>G (p.Pro141Ala)
c.571C>G (p.Pro191Ala)
c.544C>G (p.Pro182Ala)
7g.150958254G=CA1752418212KCNH2n.1554C=
c.721C= (p.Pro241=)
c.373C= (p.Pro125=)
n.944C=
c.421C= (p.Pro141=)
c.571C= (p.Pro191=)
c.544C= (p.Pro182=)
7g.150958254G>TCA369862716KCNH2n.1554C>A
c.721C>A (p.Pro241Thr)
c.373C>A (p.Pro125Thr)
n.944C>A
c.421C>A (p.Pro141Thr)
c.571C>A (p.Pro191Thr)
c.544C>A (p.Pro182Thr)
gnomAD v4
7g.150958255delCA2685607962KCNH2n.1553del
c.720del (p.Arg242AlafsTer?)
c.372del (p.Arg126AlafsTer?)
n.943del
c.420del (p.Arg142AlafsTer?)
c.570del (p.Arg192AlafsTer?)
c.543del (p.Arg183AlafsTer?)
gnomAD v4
7g.150958255C>ACA458872180KCNH2n.1553G>T
c.720G>T (p.Pro240=)
c.372G>T (p.Pro124=)
n.943G>T
c.420G>T (p.Pro140=)
c.570G>T (p.Pro190=)
c.543G>T (p.Pro181=)
dbSNP gnomAD v4
7g.150958255C=CA1752418216KCNH2n.1553G=
c.720G= (p.Pro240=)
c.372G= (p.Pro124=)
n.943G=
c.420G= (p.Pro140=)
c.570G= (p.Pro190=)
c.543G= (p.Pro181=)
7g.150958255C>GCA458872181KCNH2n.1553G>C
c.720G>C (p.Pro240=)
c.372G>C (p.Pro124=)
n.943G>C
c.420G>C (p.Pro140=)
c.570G>C (p.Pro190=)
c.543G>C (p.Pro181=)
ClinVar dbSNP
7g.150958255C>TCA16612197KCNH2n.1553G>A
c.720G>A (p.Pro240=)
c.372G>A (p.Pro124=)
n.943G>A
c.420G>A (p.Pro140=)
c.570G>A (p.Pro190=)
c.543G>A (p.Pro181=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958256G>ACA008703KCNH2n.1552C>T
c.719C>T (p.Pro240Leu)
c.371C>T (p.Pro124Leu)
n.942C>T
c.419C>T (p.Pro140Leu)
c.569C>T (p.Pro190Leu)
c.542C>T (p.Pro181Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958256G>CCA369862721KCNH2n.1552C>G
c.719C>G (p.Pro240Arg)
c.371C>G (p.Pro124Arg)
n.942C>G
c.419C>G (p.Pro140Arg)
c.569C>G (p.Pro190Arg)
c.542C>G (p.Pro181Arg)
7g.150958256G=CA1752418224KCNH2n.1552C=
c.719C= (p.Pro240=)
c.371C= (p.Pro124=)
n.942C=
c.419C= (p.Pro140=)
c.569C= (p.Pro190=)
c.542C= (p.Pro181=)
7g.150958256G>TCA369862719KCNH2n.1552C>A
c.719C>A (p.Pro240Gln)
c.371C>A (p.Pro124Gln)
n.942C>A
c.419C>A (p.Pro140Gln)
c.569C>A (p.Pro190Gln)
c.542C>A (p.Pro181Gln)
gnomAD v4
7g.150958257_150958261delCA2695208639KCNH2n.1548_1552del
c.715_719del (p.Ser239AlafsTer?)
c.367_371del (p.Ser123AlafsTer?)
n.938_942del
c.415_419del (p.Ser139AlafsTer?)
c.565_569del (p.Ser189AlafsTer?)
c.538_542del (p.Ser180AlafsTer?)
7g.150958257G>ACA369862726KCNH2n.1551C>T
c.718C>T (p.Pro240Ser)
c.370C>T (p.Pro124Ser)
n.941C>T
c.418C>T (p.Pro140Ser)
c.568C>T (p.Pro190Ser)
c.541C>T (p.Pro181Ser)
dbSNP gnomAD v4
7g.150958257G>CCA369862723KCNH2n.1551C>G
c.718C>G (p.Pro240Ala)
c.370C>G (p.Pro124Ala)
n.941C>G
c.418C>G (p.Pro140Ala)
c.568C>G (p.Pro190Ala)
c.541C>G (p.Pro181Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958257G=CA1752418227KCNH2n.1551C=
c.718C= (p.Pro240=)
c.370C= (p.Pro124=)
n.941C=
c.418C= (p.Pro140=)
c.568C= (p.Pro190=)
c.541C= (p.Pro181=)
7g.150958257G>TCA369862725KCNH2n.1551C>A
c.718C>A (p.Pro240Thr)
c.370C>A (p.Pro124Thr)
n.941C>A
c.418C>A (p.Pro140Thr)
c.568C>A (p.Pro190Thr)
c.541C>A (p.Pro181Thr)
gnomAD v4
7g.150958258delCA2685607981KCNH2n.1550del
c.717del (p.Pro240ArgfsTer?)
c.369del (p.Pro124ArgfsTer?)
n.940del
c.417del (p.Pro140ArgfsTer?)
c.567del (p.Pro190ArgfsTer?)
c.540del (p.Pro181ArgfsTer?)
gnomAD v4
7g.150958258A>CCA458872186KCNH2n.1550T>G
c.717T>G (p.Ser239=)
c.369T>G (p.Ser123=)
n.940T>G
c.417T>G (p.Ser139=)
c.567T>G (p.Ser189=)
c.540T>G (p.Ser180=)
7g.150958258A>GCA458872193KCNH2n.1550T>C
c.717T>C (p.Ser239=)
c.369T>C (p.Ser123=)
n.940T>C
c.417T>C (p.Ser139=)
c.567T>C (p.Ser189=)
c.540T>C (p.Ser180=)
gnomAD v4
7g.150958258A>TCA458872195KCNH2n.1550T>A
c.717T>A (p.Ser239=)
c.369T>A (p.Ser123=)
n.940T>A
c.417T>A (p.Ser139=)
c.567T>A (p.Ser189=)
c.540T>A (p.Ser180=)
7g.150958259G>ACA369862729KCNH2n.1549C>T
c.716C>T (p.Ser239Phe)
c.368C>T (p.Ser123Phe)
n.939C>T
c.416C>T (p.Ser139Phe)
c.566C>T (p.Ser189Phe)
c.539C>T (p.Ser180Phe)
gnomAD v4
7g.150958259G>CCA369862730KCNH2n.1549C>G
c.716C>G (p.Ser239Cys)
c.368C>G (p.Ser123Cys)
n.939C>G
c.416C>G (p.Ser139Cys)
c.566C>G (p.Ser189Cys)
c.539C>G (p.Ser180Cys)
gnomAD v4
7g.150958259G=CA1752418230KCNH2n.1549C=
c.716C= (p.Ser239=)
c.368C= (p.Ser123=)
n.939C=
c.416C= (p.Ser139=)
c.566C= (p.Ser189=)
c.539C= (p.Ser180=)
7g.150958259G>TCA369862731KCNH2n.1549C>A
c.716C>A (p.Ser239Tyr)
c.368C>A (p.Ser123Tyr)
n.939C>A
c.416C>A (p.Ser139Tyr)
c.566C>A (p.Ser189Tyr)
c.539C>A (p.Ser180Tyr)
dbSNP gnomAD v2 gnomAD v4
7g.150958260A>CCA369862734KCNH2n.1548T>G
c.715T>G (p.Ser239Ala)
c.367T>G (p.Ser123Ala)
n.938T>G
c.415T>G (p.Ser139Ala)
c.565T>G (p.Ser189Ala)
c.538T>G (p.Ser180Ala)
7g.150958260A>GCA369862735KCNH2n.1548T>C
c.715T>C (p.Ser239Pro)
c.367T>C (p.Ser123Pro)
n.938T>C
c.415T>C (p.Ser139Pro)
c.565T>C (p.Ser189Pro)
c.538T>C (p.Ser180Pro)
gnomAD v4
7g.150958260A>TCA369862737KCNH2n.1548T>A
c.715T>A (p.Ser239Thr)
c.367T>A (p.Ser123Thr)
n.938T>A
c.415T>A (p.Ser139Thr)
c.565T>A (p.Ser189Thr)
c.538T>A (p.Ser180Thr)
7g.150958261G>ACA458872199KCNH2n.1547C>T
c.714C>T (p.Gly238=)
c.366C>T (p.Gly122=)
n.937C>T
c.414C>T (p.Gly138=)
c.564C>T (p.Gly188=)
c.537C>T (p.Gly179=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958261G>CCA458872200KCNH2n.1547C>G
c.714C>G (p.Gly238=)
c.366C>G (p.Gly122=)
n.937C>G
c.414C>G (p.Gly138=)
c.564C>G (p.Gly188=)
c.537C>G (p.Gly179=)
gnomAD v4
7g.150958261G=CA1752418233KCNH2n.1547C=
c.714C= (p.Gly238=)
c.366C= (p.Gly122=)
n.937C=
c.414C= (p.Gly138=)
c.564C= (p.Gly188=)
c.537C= (p.Gly179=)
7g.150958261G>TCA458872201KCNH2n.1547C>A
c.714C>A (p.Gly238=)
c.366C>A (p.Gly122=)
n.937C>A
c.414C>A (p.Gly138=)
c.564C>A (p.Gly188=)
c.537C>A (p.Gly179=)
gnomAD v4
7g.150958262C>ACA369862739KCNH2n.1546G>T
c.713G>T (p.Gly238Val)
c.365G>T (p.Gly122Val)
n.936G>T
c.413G>T (p.Gly138Val)
c.563G>T (p.Gly188Val)
c.536G>T (p.Gly179Val)
gnomAD v4
7g.150958262C=CA1752418236KCNH2n.1546G=
c.713G= (p.Gly238=)
c.365G= (p.Gly122=)
n.936G=
c.413G= (p.Gly138=)
c.563G= (p.Gly188=)
c.536G= (p.Gly179=)
7g.150958262C>GCA369862741KCNH2n.1546G>C
c.713G>C (p.Gly238Ala)
c.365G>C (p.Gly122Ala)
n.936G>C
c.413G>C (p.Gly138Ala)
c.563G>C (p.Gly188Ala)
c.536G>C (p.Gly179Ala)
7g.150958262C>TCA169081297KCNH2n.1546G>A
c.713G>A (p.Gly238Asp)
c.365G>A (p.Gly122Asp)
n.936G>A
c.413G>A (p.Gly138Asp)
c.563G>A (p.Gly188Asp)
c.536G>A (p.Gly179Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958263C>ACA369862746KCNH2n.1545G>T
c.712G>T (p.Gly238Cys)
c.364G>T (p.Gly122Cys)
n.935G>T
c.412G>T (p.Gly138Cys)
c.562G>T (p.Gly188Cys)
c.535G>T (p.Gly179Cys)
ClinVar dbSNP gnomAD v4
7g.150958263C=CA1752418240KCNH2n.1545G=
c.712G= (p.Gly238=)
c.364G= (p.Gly122=)
n.935G=
c.412G= (p.Gly138=)
c.562G= (p.Gly188=)
c.535G= (p.Gly179=)
7g.150958263C>GCA369862744KCNH2n.1545G>C
c.712G>C (p.Gly238Arg)
c.364G>C (p.Gly122Arg)
n.935G>C
c.412G>C (p.Gly138Arg)
c.562G>C (p.Gly188Arg)
c.535G>C (p.Gly179Arg)
gnomAD v4
7g.150958263C>TCA008696KCNH2n.1545G>A
c.712G>A (p.Gly238Ser)
c.364G>A (p.Gly122Ser)
n.935G>A
c.412G>A (p.Gly138Ser)
c.562G>A (p.Gly188Ser)
c.535G>A (p.Gly179Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958264G>ACA040273KCNH2n.1544C>T
c.711C>T (p.Pro237=)
c.363C>T (p.Pro121=)
n.934C>T
c.411C>T (p.Pro137=)
c.561C>T (p.Pro187=)
c.534C>T (p.Pro178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958264G>CCA458872203KCNH2n.1544C>G
c.711C>G (p.Pro237=)
c.363C>G (p.Pro121=)
n.934C>G
c.411C>G (p.Pro137=)
c.561C>G (p.Pro187=)
c.534C>G (p.Pro178=)
ClinVar dbSNP gnomAD v4
7g.150958264G=CA1752418243KCNH2n.1544C=
c.711C= (p.Pro237=)
c.363C= (p.Pro121=)
n.934C=
c.411C= (p.Pro137=)
c.561C= (p.Pro187=)
c.534C= (p.Pro178=)
7g.150958264G>TCA458872205KCNH2n.1544C>A
c.711C>A (p.Pro237=)
c.363C>A (p.Pro121=)
n.934C>A
c.411C>A (p.Pro137=)
c.561C>A (p.Pro187=)
c.534C>A (p.Pro178=)
gnomAD v4
7g.150958266delCA2685608021KCNH2n.1544del
c.711del (p.Gly238AlafsTer?)
c.363del (p.Gly122AlafsTer?)
n.934del
c.411del (p.Gly138AlafsTer?)
c.561del (p.Gly188AlafsTer?)
c.534del (p.Gly179AlafsTer?)
gnomAD v4
7g.150958265_150958266delCA2685608028KCNH2n.1543_1544del
c.710_711del (p.Pro237ArgfsTer?)
c.362_363del (p.Pro121ArgfsTer?)
n.933_934del
c.410_411del (p.Pro137ArgfsTer?)
c.560_561del (p.Pro187ArgfsTer?)
c.533_534del (p.Pro178ArgfsTer?)
gnomAD v4
7g.150958265G>ACA369862749KCNH2n.1543C>T
c.710C>T (p.Pro237Leu)
c.362C>T (p.Pro121Leu)
n.933C>T
c.410C>T (p.Pro137Leu)
c.560C>T (p.Pro187Leu)
c.533C>T (p.Pro178Leu)
gnomAD v4
7g.150958265G>CCA369862751KCNH2n.1543C>G
c.710C>G (p.Pro237Arg)
c.362C>G (p.Pro121Arg)
n.933C>G
c.410C>G (p.Pro137Arg)
c.560C>G (p.Pro187Arg)
c.533C>G (p.Pro178Arg)
7g.150958265G=CA1752418246KCNH2n.1543C=
c.710C= (p.Pro237=)
c.362C= (p.Pro121=)
n.933C=
c.410C= (p.Pro137=)
c.560C= (p.Pro187=)
c.533C= (p.Pro178=)
7g.150958265G>TCA369862753KCNH2n.1543C>A
c.710C>A (p.Pro237His)
c.362C>A (p.Pro121His)
n.933C>A
c.410C>A (p.Pro137His)
c.560C>A (p.Pro187His)
c.533C>A (p.Pro178His)
ClinVar dbSNP gnomAD v4
7g.150958266G>ACA369862754KCNH2n.1542C>T
c.709C>T (p.Pro237Ser)
c.361C>T (p.Pro121Ser)
n.932C>T
c.409C>T (p.Pro137Ser)
c.559C>T (p.Pro187Ser)
c.532C>T (p.Pro178Ser)
gnomAD v4
7g.150958266G>CCA369862756KCNH2n.1542C>G
c.709C>G (p.Pro237Ala)
c.361C>G (p.Pro121Ala)
n.932C>G
c.409C>G (p.Pro137Ala)
c.559C>G (p.Pro187Ala)
c.532C>G (p.Pro178Ala)
gnomAD v4
7g.150958266G>TCA369862758KCNH2n.1542C>A
c.709C>A (p.Pro237Thr)
c.361C>A (p.Pro121Thr)
n.932C>A
c.409C>A (p.Pro137Thr)
c.559C>A (p.Pro187Thr)
c.532C>A (p.Pro178Thr)
gnomAD v4
7g.150958266_150958268delinsGACCA1752418249KCNH2n.1540_1542delinsGTC
c.707_709delinsGTC (p.Gly236=)
c.359_361delinsGTC (p.Gly120=)
n.930_932delinsGTC
c.407_409delinsGTC (p.Gly136=)
c.557_559delinsGTC (p.Gly186=)
c.530_532delinsGTC (p.Gly177=)
7g.150958267A>CCA458872210KCNH2n.1541T>G
c.708T>G (p.Gly236=)
c.360T>G (p.Gly120=)
n.931T>G
c.408T>G (p.Gly136=)
c.558T>G (p.Gly186=)
c.531T>G (p.Gly177=)
gnomAD v4
7g.150958267A>GCA458872212KCNH2n.1541T>C
c.708T>C (p.Gly236=)
c.360T>C (p.Gly120=)
n.931T>C
c.408T>C (p.Gly136=)
c.558T>C (p.Gly186=)
c.531T>C (p.Gly177=)
gnomAD v4
7g.150958267A>TCA458872211KCNH2n.1541T>A
c.708T>A (p.Gly236=)
c.360T>A (p.Gly120=)
n.931T>A
c.408T>A (p.Gly136=)
c.558T>A (p.Gly186=)
c.531T>A (p.Gly177=)
7g.150958267_150958268delCA1139660322KCNH2n.1540_1541del
c.707_708del (p.Gly236AlafsTer?)
c.359_360del (p.Gly120AlafsTer?)
n.930_931del
c.407_408del (p.Gly136AlafsTer?)
c.557_558del (p.Gly186AlafsTer?)
c.530_531del (p.Gly177AlafsTer?)
ClinVar dbSNP
7g.150958268C>ACA008689KCNH2n.1540G>T
c.707G>T (p.Gly236Val)
c.359G>T (p.Gly120Val)
n.930G>T
c.407G>T (p.Gly136Val)
c.557G>T (p.Gly186Val)
c.530G>T (p.Gly177Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958268C=CA1752418260KCNH2n.1540G=
c.707G= (p.Gly236=)
c.359G= (p.Gly120=)
n.930G=
c.407G= (p.Gly136=)
c.557G= (p.Gly186=)
c.530G= (p.Gly177=)
7g.150958268C>GCA369862761KCNH2n.1540G>C
c.707G>C (p.Gly236Ala)
c.359G>C (p.Gly120Ala)
n.930G>C
c.407G>C (p.Gly136Ala)
c.557G>C (p.Gly186Ala)
c.530G>C (p.Gly177Ala)
7g.150958268C>TCA369862763KCNH2n.1540G>A
c.707G>A (p.Gly236Asp)
c.359G>A (p.Gly120Asp)
n.930G>A
c.407G>A (p.Gly136Asp)
c.557G>A (p.Gly186Asp)
c.530G>A (p.Gly177Asp)
ClinVar dbSNP gnomAD v4
7g.150958270delCA2579062963KCNH2n.1540del
c.707del (p.Gly236ValfsTer?)
c.359del (p.Gly120ValfsTer?)
n.930del
c.407del (p.Gly136ValfsTer?)
c.557del (p.Gly186ValfsTer?)
c.530del (p.Gly177ValfsTer?)
gnomAD v4
7g.150958269C>ACA369862765KCNH2n.1539G>T
c.706G>T (p.Gly236Cys)
c.358G>T (p.Gly120Cys)
n.929G>T
c.406G>T (p.Gly136Cys)
c.556G>T (p.Gly186Cys)
c.529G>T (p.Gly177Cys)
gnomAD v4
7g.150958269C>GCA369862767KCNH2n.1539G>C
c.706G>C (p.Gly236Arg)
c.358G>C (p.Gly120Arg)
n.929G>C
c.406G>C (p.Gly136Arg)
c.556G>C (p.Gly186Arg)
c.529G>C (p.Gly177Arg)
7g.150958269C>TCA369862769KCNH2n.1539G>A
c.706G>A (p.Gly236Ser)
c.358G>A (p.Gly120Ser)
n.929G>A
c.406G>A (p.Gly136Ser)
c.556G>A (p.Gly186Ser)
c.529G>A (p.Gly177Ser)
gnomAD v4
7g.150958270C>ACA458872216KCNH2n.1538G>T
c.705G>T (p.Val235=)
c.357G>T (p.Val119=)
n.928G>T
c.405G>T (p.Val135=)
c.555G>T (p.Val185=)
c.528G>T (p.Val176=)
gnomAD v4
7g.150958270C=CA1752418262KCNH2n.1538G=
c.705G= (p.Val235=)
c.357G= (p.Val119=)
n.928G=
c.405G= (p.Val135=)
c.555G= (p.Val185=)
c.528G= (p.Val176=)
7g.150958270C>GCA458872217KCNH2n.1538G>C
c.705G>C (p.Val235=)
c.357G>C (p.Val119=)
n.928G>C
c.405G>C (p.Val135=)
c.555G>C (p.Val185=)
c.528G>C (p.Val176=)
7g.150958270C>TCA458872220KCNH2n.1538G>A
c.705G>A (p.Val235=)
c.357G>A (p.Val119=)
n.928G>A
c.405G>A (p.Val135=)
c.555G>A (p.Val185=)
c.528G>A (p.Val176=)
dbSNP gnomAD v4
7g.150958271A=CA1752418266KCNH2n.1537T=
c.704T= (p.Val235=)
c.356T= (p.Val119=)
n.927T=
c.404T= (p.Val135=)
c.554T= (p.Val185=)
c.527T= (p.Val176=)
7g.150958271A>CCA369862772KCNH2n.1537T>G
c.704T>G (p.Val235Gly)
c.356T>G (p.Val119Gly)
n.927T>G
c.404T>G (p.Val135Gly)
c.554T>G (p.Val185Gly)
c.527T>G (p.Val176Gly)
7g.150958271A>GCA369862774KCNH2n.1537T>C
c.704T>C (p.Val235Ala)
c.356T>C (p.Val119Ala)
n.927T>C
c.404T>C (p.Val135Ala)
c.554T>C (p.Val185Ala)
c.527T>C (p.Val176Ala)
ClinVar dbSNP gnomAD v4
7g.150958271A>TCA369862771KCNH2n.1537T>A
c.704T>A (p.Val235Glu)
c.356T>A (p.Val119Glu)
n.927T>A
c.404T>A (p.Val135Glu)
c.554T>A (p.Val185Glu)
c.527T>A (p.Val176Glu)
7g.150958272C>ACA369862776KCNH2n.1536G>T
c.703G>T (p.Val235Leu)
c.355G>T (p.Val119Leu)
n.926G>T
c.403G>T (p.Val135Leu)
c.553G>T (p.Val185Leu)
c.526G>T (p.Val176Leu)
gnomAD v4
7g.150958272C>GCA072022KCNH2n.1536G>C
c.703G>C (p.Val235Leu)
c.355G>C (p.Val119Leu)
n.926G>C
c.403G>C (p.Val135Leu)
c.553G>C (p.Val185Leu)
c.526G>C (p.Val176Leu)
7g.150958272C>TCA369862778KCNH2n.1536G>A
c.703G>A (p.Val235Met)
c.355G>A (p.Val119Met)
n.926G>A
c.403G>A (p.Val135Met)
c.553G>A (p.Val185Met)
c.526G>A (p.Val176Met)
gnomAD v4
7g.150958273delCA2685608085KCNH2n.1536del
c.703del (p.Val235TrpfsTer?)
c.355del (p.Val119TrpfsTer?)
n.926del
c.403del (p.Val135TrpfsTer?)
c.553del (p.Val185TrpfsTer?)
c.526del (p.Val176TrpfsTer?)
gnomAD v4
7g.150958273C>ACA458872228KCNH2n.1535G>T
c.702G>T (p.Leu234=)
c.354G>T (p.Leu118=)
n.925G>T
c.402G>T (p.Leu134=)
c.552G>T (p.Leu184=)
c.525G>T (p.Leu175=)
gnomAD v4
7g.150958273C=CA1752418269KCNH2n.1535G=
c.702G= (p.Leu234=)
c.354G= (p.Leu118=)
n.925G=
c.402G= (p.Leu134=)
c.552G= (p.Leu184=)
c.525G= (p.Leu175=)
7g.150958273C>GCA169081306KCNH2n.1535G>C
c.702G>C (p.Leu234=)
c.354G>C (p.Leu118=)
n.925G>C
c.402G>C (p.Leu134=)
c.552G>C (p.Leu184=)
c.525G>C (p.Leu175=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958273C>TCA458872229KCNH2n.1535G>A
c.702G>A (p.Leu234=)
c.354G>A (p.Leu118=)
n.925G>A
c.402G>A (p.Leu134=)
c.552G>A (p.Leu184=)
c.525G>A (p.Leu175=)
gnomAD v4
7g.150958274A>CCA369862780KCNH2n.1534T>G
c.701T>G (p.Leu234Arg)
c.353T>G (p.Leu118Arg)
n.924T>G
c.401T>G (p.Leu134Arg)
c.551T>G (p.Leu184Arg)
c.524T>G (p.Leu175Arg)
7g.150958274A>GCA369862782KCNH2n.1534T>C
c.701T>C (p.Leu234Pro)
c.353T>C (p.Leu118Pro)
n.924T>C
c.401T>C (p.Leu134Pro)
c.551T>C (p.Leu184Pro)
c.524T>C (p.Leu175Pro)
gnomAD v4
7g.150958274A>TCA369862784KCNH2n.1534T>A
c.701T>A (p.Leu234Gln)
c.353T>A (p.Leu118Gln)
n.924T>A
c.401T>A (p.Leu134Gln)
c.551T>A (p.Leu184Gln)
c.524T>A (p.Leu175Gln)
7g.150958275G>ACA458872231KCNH2n.1533C>T
c.700C>T (p.Leu234=)
c.352C>T (p.Leu118=)
n.923C>T
c.400C>T (p.Leu134=)
c.550C>T (p.Leu184=)
c.523C>T (p.Leu175=)
ClinVar dbSNP gnomAD v4
7g.150958275G>CCA369862786KCNH2n.1533C>G
c.700C>G (p.Leu234Val)
c.352C>G (p.Leu118Val)
n.923C>G
c.400C>G (p.Leu134Val)
c.550C>G (p.Leu184Val)
c.523C>G (p.Leu175Val)
7g.150958275G=CA1752418273KCNH2n.1533C=
c.700C= (p.Leu234=)
c.352C= (p.Leu118=)
n.923C=
c.400C= (p.Leu134=)
c.550C= (p.Leu184=)
c.523C= (p.Leu175=)
7g.150958275G>TCA369862788KCNH2n.1533C>A
c.700C>A (p.Leu234Met)
c.352C>A (p.Leu118Met)
n.923C>A
c.400C>A (p.Leu134Met)
c.550C>A (p.Leu184Met)
c.523C>A (p.Leu175Met)
gnomAD v4
7g.150958277_150958278delCA071898KCNH2n.1532_1533del
c.699_700del (p.Leu234GlyfsTer?)
c.351_352del (p.Leu118GlyfsTer?)
n.922_923del
c.399_400del (p.Leu134GlyfsTer?)
c.549_550del (p.Leu184GlyfsTer?)
c.522_523del (p.Leu175GlyfsTer?)
7g.150958277_150958282delCA2499218807KCNH2n.1528_1533del
c.695_700del (p.Arg232_Ala233del)
c.347_352del (p.Arg116_Ala117del)
n.918_923del
c.395_400del (p.Arg132_Ala133del)
c.545_550del (p.Arg182_Ala183del)
c.518_523del (p.Arg173_Ala174del)
ClinVar dbSNP
7g.150958276C>ACA458872232KCNH2n.1532G>T
c.699G>T (p.Ala233=)
c.351G>T (p.Ala117=)
n.922G>T
c.399G>T (p.Ala133=)
c.549G>T (p.Ala183=)
c.522G>T (p.Ala174=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958276C=CA1752418277KCNH2n.1532G=
c.699G= (p.Ala233=)
c.351G= (p.Ala117=)
n.922G=
c.399G= (p.Ala133=)
c.549G= (p.Ala183=)
c.522G= (p.Ala174=)
7g.150958276C>GCA458872233KCNH2n.1532G>C
c.699G>C (p.Ala233=)
c.351G>C (p.Ala117=)
n.922G>C
c.399G>C (p.Ala133=)
c.549G>C (p.Ala183=)
c.522G>C (p.Ala174=)
7g.150958276C>TCA458872234KCNH2n.1532G>A
c.699G>A (p.Ala233=)
c.351G>A (p.Ala117=)
n.922G>A
c.399G>A (p.Ala133=)
c.549G>A (p.Ala183=)
c.522G>A (p.Ala174=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958277G>ACA369862789KCNH2n.1531C>T
c.698C>T (p.Ala233Val)
c.350C>T (p.Ala117Val)
n.921C>T
c.398C>T (p.Ala133Val)
c.548C>T (p.Ala183Val)
c.521C>T (p.Ala174Val)
gnomAD v4
7g.150958277G>CCA369862791KCNH2n.1531C>G
c.698C>G (p.Ala233Gly)
c.350C>G (p.Ala117Gly)
n.921C>G
c.398C>G (p.Ala133Gly)
c.548C>G (p.Ala183Gly)
c.521C>G (p.Ala174Gly)
gnomAD v4
7g.150958277G>TCA369862793KCNH2n.1531C>A
c.698C>A (p.Ala233Glu)
c.350C>A (p.Ala117Glu)
n.921C>A
c.398C>A (p.Ala133Glu)
c.548C>A (p.Ala183Glu)
c.521C>A (p.Ala174Glu)
gnomAD v4
7g.150958278C>ACA040247KCNH2n.1530G>T
c.697G>T (p.Ala233Ser)
c.349G>T (p.Ala117Ser)
n.920G>T
c.397G>T (p.Ala133Ser)
c.547G>T (p.Ala183Ser)
c.520G>T (p.Ala174Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958278C=CA1752418284KCNH2n.1530G=
c.697G= (p.Ala233=)
c.349G= (p.Ala117=)
n.920G=
c.397G= (p.Ala133=)
c.547G= (p.Ala183=)
c.520G= (p.Ala174=)
7g.150958278C>GCA369862796KCNH2n.1530G>C
c.697G>C (p.Ala233Pro)
c.349G>C (p.Ala117Pro)
n.920G>C
c.397G>C (p.Ala133Pro)
c.547G>C (p.Ala183Pro)
c.520G>C (p.Ala174Pro)
gnomAD v4
7g.150958278C>TCA369862798KCNH2n.1530G>A
c.697G>A (p.Ala233Thr)
c.349G>A (p.Ala117Thr)
n.920G>A
c.397G>A (p.Ala133Thr)
c.547G>A (p.Ala183Thr)
c.520G>A (p.Ala174Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958279A=CA1752418291KCNH2n.1529T=
c.696T= (p.Arg232=)
c.348T= (p.Arg116=)
n.919T=
c.396T= (p.Arg132=)
c.546T= (p.Arg182=)
c.519T= (p.Arg173=)
7g.150958279A>CCA458872240KCNH2n.1529T>G
c.696T>G (p.Arg232=)
c.348T>G (p.Arg116=)
n.919T>G
c.396T>G (p.Arg132=)
c.546T>G (p.Arg182=)
c.519T>G (p.Arg173=)
7g.150958279A>GCA169081312KCNH2n.1529T>C
c.696T>C (p.Arg232=)
c.348T>C (p.Arg116=)
n.919T>C
c.396T>C (p.Arg132=)
c.546T>C (p.Arg182=)
c.519T>C (p.Arg173=)
dbSNP gnomAD v4
7g.150958279A>TCA458872242KCNH2n.1529T>A
c.696T>A (p.Arg232=)
c.348T>A (p.Arg116=)
n.919T>A
c.396T>A (p.Arg132=)
c.546T>A (p.Arg182=)
c.519T>A (p.Arg173=)
7g.150958280C>ACA10587638KCNH2n.1528G>T
c.695G>T (p.Arg232Leu)
c.347G>T (p.Arg116Leu)
n.918G>T
c.395G>T (p.Arg132Leu)
c.545G>T (p.Arg182Leu)
c.518G>T (p.Arg173Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958280C=CA1752418296KCNH2n.1528G=
c.695G= (p.Arg232=)
c.347G= (p.Arg116=)
n.918G=
c.395G= (p.Arg132=)
c.545G= (p.Arg182=)
c.518G= (p.Arg173=)
7g.150958280C>GCA169081316KCNH2n.1528G>C
c.695G>C (p.Arg232Pro)
c.347G>C (p.Arg116Pro)
n.918G>C
c.395G>C (p.Arg132Pro)
c.545G>C (p.Arg182Pro)
c.518G>C (p.Arg173Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958280C>TCA369862800KCNH2n.1528G>A
c.695G>A (p.Arg232His)
c.347G>A (p.Arg116His)
n.918G>A
c.395G>A (p.Arg132His)
c.545G>A (p.Arg182His)
c.518G>A (p.Arg173His)
gnomAD v4
7g.150958281G>ACA169081320KCNH2n.1527C>T
c.694C>T (p.Arg232Cys)
c.346C>T (p.Arg116Cys)
n.917C>T
c.394C>T (p.Arg132Cys)
c.544C>T (p.Arg182Cys)
c.517C>T (p.Arg173Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958281G>CCA369862805KCNH2n.1527C>G
c.694C>G (p.Arg232Gly)
c.346C>G (p.Arg116Gly)
n.917C>G
c.394C>G (p.Arg132Gly)
c.544C>G (p.Arg182Gly)
c.517C>G (p.Arg173Gly)
gnomAD v4
7g.150958281G=CA1752418302KCNH2n.1527C=
c.694C= (p.Arg232=)
c.346C= (p.Arg116=)
n.917C=
c.394C= (p.Arg132=)
c.544C= (p.Arg182=)
c.517C= (p.Arg173=)
7g.150958281G>TCA369862806KCNH2n.1527C>A
c.694C>A (p.Arg232Ser)
c.346C>A (p.Arg116Ser)
n.917C>A
c.394C>A (p.Arg132Ser)
c.544C>A (p.Arg182Ser)
c.517C>A (p.Arg173Ser)
gnomAD v4
7g.150958282C>ACA458872262KCNH2n.1526G>T
c.693G>T (p.Arg231=)
c.345G>T (p.Arg115=)
n.916G>T
c.393G>T (p.Arg131=)
c.543G>T (p.Arg181=)
c.516G>T (p.Arg172=)
gnomAD v4
7g.150958282C=CA1752418307KCNH2n.1526G=
c.693G= (p.Arg231=)
c.345G= (p.Arg115=)
n.916G=
c.393G= (p.Arg131=)
c.543G= (p.Arg181=)
c.516G= (p.Arg172=)
7g.150958282C>GCA458872256KCNH2n.1526G>C
c.693G>C (p.Arg231=)
c.345G>C (p.Arg115=)
n.916G>C
c.393G>C (p.Arg131=)
c.543G>C (p.Arg181=)
c.516G>C (p.Arg172=)
dbSNP
7g.150958282C>TCA458872258KCNH2n.1526G>A
c.693G>A (p.Arg231=)
c.345G>A (p.Arg115=)
n.916G>A
c.393G>A (p.Arg131=)
c.543G>A (p.Arg181=)
c.516G>A (p.Arg172=)
gnomAD v4
7g.150958283dupCA2685608114KCNH2n.1526dup
c.693dup (p.Arg232AlafsTer?)
c.345dup (p.Arg116AlafsTer?)
n.916dup
c.393dup (p.Arg132AlafsTer?)
c.543dup (p.Arg182AlafsTer?)
c.516dup (p.Arg173AlafsTer?)
gnomAD v4
7g.150958283C>ACA369862808KCNH2n.1525G>T
c.692G>T (p.Arg231Leu)
c.344G>T (p.Arg115Leu)
n.915G>T
c.392G>T (p.Arg131Leu)
c.542G>T (p.Arg181Leu)
c.515G>T (p.Arg172Leu)
ClinVar gnomAD v4
7g.150958283C=CA1752418310KCNH2n.1525G=
c.692G= (p.Arg231=)
c.344G= (p.Arg115=)
n.915G=
c.392G= (p.Arg131=)
c.542G= (p.Arg181=)
c.515G= (p.Arg172=)
7g.150958283C>GCA369862810KCNH2n.1525G>C
c.692G>C (p.Arg231Pro)
c.344G>C (p.Arg115Pro)
n.915G>C
c.392G>C (p.Arg131Pro)
c.542G>C (p.Arg181Pro)
c.515G>C (p.Arg172Pro)
7g.150958283C>TCA369862812KCNH2n.1525G>A
c.692G>A (p.Arg231Gln)
c.344G>A (p.Arg115Gln)
n.915G>A
c.392G>A (p.Arg131Gln)
c.542G>A (p.Arg181Gln)
c.515G>A (p.Arg172Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958284G>ACA369862814KCNH2n.1524C>T
c.691C>T (p.Arg231Trp)
c.343C>T (p.Arg115Trp)
n.914C>T
c.391C>T (p.Arg131Trp)
c.541C>T (p.Arg181Trp)
c.514C>T (p.Arg172Trp)
dbSNP gnomAD v2 gnomAD v4
7g.150958284G>CCA369862816KCNH2n.1524C>G
c.691C>G (p.Arg231Gly)
c.343C>G (p.Arg115Gly)
n.914C>G
c.391C>G (p.Arg131Gly)
c.541C>G (p.Arg181Gly)
c.514C>G (p.Arg172Gly)
7g.150958284G=CA1752418317KCNH2n.1524C=
c.691C= (p.Arg231=)
c.343C= (p.Arg115=)
n.914C=
c.391C= (p.Arg131=)
c.541C= (p.Arg181=)
c.514C= (p.Arg172=)
7g.150958284G>TCA458872268KCNH2n.1524C>A
c.691C>A (p.Arg231=)
c.343C>A (p.Arg115=)
n.914C>A
c.391C>A (p.Arg131=)
c.541C>A (p.Arg181=)
c.514C>A (p.Arg172=)
gnomAD v4
7g.150958284_150958285delinsAACA916080380KCNH2n.1523_1524delinsTT
c.690_691delinsTT (p.Glu230_Arg231delinsAspTrp)
c.342_343delinsTT (p.Glu114_Arg115delinsAspTrp)
n.913_914delinsTT
c.390_391delinsTT (p.Glu130_Arg131delinsAspTrp)
c.540_541delinsTT (p.Glu180_Arg181delinsAspTrp)
c.513_514delinsTT (p.Glu171_Arg172delinsAspTrp)
ClinVar dbSNP
7g.150958284_150958285delinsGCCA1752418315KCNH2n.1523_1524delinsGC
c.690_691delinsGC (p.Glu230=)
c.342_343delinsGC (p.Glu114=)
n.913_914delinsGC
c.390_391delinsGC (p.Glu130=)
c.540_541delinsGC (p.Glu180=)
c.513_514delinsGC (p.Glu171=)
7g.150958285C>ACA071891KCNH2n.1523G>T
c.690G>T (p.Glu230Asp)
c.342G>T (p.Glu114Asp)
n.913G>T
c.390G>T (p.Glu130Asp)
c.540G>T (p.Glu180Asp)
c.513G>T (p.Glu171Asp)
dbSNP gnomAD v2 gnomAD v4
7g.150958285C=CA1752418320KCNH2n.1523G=
c.690G= (p.Glu230=)
c.342G= (p.Glu114=)
n.913G=
c.390G= (p.Glu130=)
c.540G= (p.Glu180=)
c.513G= (p.Glu171=)
7g.150958285C>GCA369862818KCNH2n.1523G>C
c.690G>C (p.Glu230Asp)
c.342G>C (p.Glu114Asp)
n.913G>C
c.390G>C (p.Glu130Asp)
c.540G>C (p.Glu180Asp)
c.513G>C (p.Glu171Asp)
7g.150958285C>TCA040234KCNH2n.1523G>A
c.690G>A (p.Glu230=)
c.342G>A (p.Glu114=)
n.913G>A
c.390G>A (p.Glu130=)
c.540G>A (p.Glu180=)
c.513G>A (p.Glu171=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958286T>ACA369862821KCNH2n.1522A>T
c.689A>T (p.Glu230Val)
c.341A>T (p.Glu114Val)
n.912A>T
c.389A>T (p.Glu130Val)
c.539A>T (p.Glu180Val)
c.512A>T (p.Glu171Val)
gnomAD v4
7g.150958286T>CCA369862823KCNH2n.1522A>G
c.689A>G (p.Glu230Gly)
c.341A>G (p.Glu114Gly)
n.912A>G
c.389A>G (p.Glu130Gly)
c.539A>G (p.Glu180Gly)
c.512A>G (p.Glu171Gly)
gnomAD v4
7g.150958286T>GCA369862824KCNH2n.1522A>C
c.689A>C (p.Glu230Ala)
c.341A>C (p.Glu114Ala)
n.912A>C
c.389A>C (p.Glu130Ala)
c.539A>C (p.Glu180Ala)
c.512A>C (p.Glu171Ala)
7g.150958287C>ACA369862828KCNH2n.1521G>T
c.688G>T (p.Glu230Ter)
c.340G>T (p.Glu114Ter)
n.911G>T
c.388G>T (p.Glu130Ter)
c.538G>T (p.Glu180Ter)
c.511G>T (p.Glu171Ter)
ClinVar gnomAD v4
7g.150958287C>GCA369862830KCNH2n.1521G>C
c.688G>C (p.Glu230Gln)
c.340G>C (p.Glu114Gln)
n.911G>C
c.388G>C (p.Glu130Gln)
c.538G>C (p.Glu180Gln)
c.511G>C (p.Glu171Gln)
7g.150958287C>TCA369862826KCNH2n.1521G>A
c.688G>A (p.Glu230Lys)
c.340G>A (p.Glu114Lys)
n.911G>A
c.388G>A (p.Glu130Lys)
c.538G>A (p.Glu180Lys)
c.511G>A (p.Glu171Lys)
gnomAD v4
7g.150958288C>ACA369862831KCNH2n.1520G>T
c.687G>T (p.Glu229Asp)
c.339G>T (p.Glu113Asp)
n.910G>T
c.387G>T (p.Glu129Asp)
c.537G>T (p.Glu179Asp)
c.510G>T (p.Glu170Asp)
ClinVar gnomAD v4
7g.150958288C=CA1752418325KCNH2n.1520G=
c.687G= (p.Glu229=)
c.339G= (p.Glu113=)
n.910G=
c.387G= (p.Glu129=)
c.537G= (p.Glu179=)
c.510G= (p.Glu170=)
7g.150958288C>GCA369862832KCNH2n.1520G>C
c.687G>C (p.Glu229Asp)
c.339G>C (p.Glu113Asp)
n.910G>C
c.387G>C (p.Glu129Asp)
c.537G>C (p.Glu179Asp)
c.510G>C (p.Glu170Asp)
7g.150958288C>TCA071997KCNH2n.1520G>A
c.687G>A (p.Glu229=)
c.339G>A (p.Glu113=)
n.910G>A
c.387G>A (p.Glu129=)
c.537G>A (p.Glu179=)
c.510G>A (p.Glu170=)
ClinVar dbSNP gnomAD v4
7g.150958289T>ACA369862834KCNH2n.1519A>T
c.686A>T (p.Glu229Val)
c.338A>T (p.Glu113Val)
n.909A>T
c.386A>T (p.Glu129Val)
c.536A>T (p.Glu179Val)
c.509A>T (p.Glu170Val)
7g.150958289T>CCA071886KCNH2n.1519A>G
c.686A>G (p.Glu229Gly)
c.338A>G (p.Glu113Gly)
n.909A>G
c.386A>G (p.Glu129Gly)
c.536A>G (p.Glu179Gly)
c.509A>G (p.Glu170Gly)
gnomAD v4
7g.150958289T>GCA369862836KCNH2n.1519A>C
c.686A>C (p.Glu229Ala)
c.338A>C (p.Glu113Ala)
n.909A>C
c.386A>C (p.Glu129Ala)
c.536A>C (p.Glu179Ala)
c.509A>C (p.Glu170Ala)
7g.150958290C>ACA008681KCNH2n.1518G>T
c.685G>T (p.Glu229Ter)
c.337G>T (p.Glu113Ter)
n.908G>T
c.385G>T (p.Glu129Ter)
c.535G>T (p.Glu179Ter)
c.508G>T (p.Glu170Ter)
ClinVar dbSNP gnomAD v4
7g.150958290C=CA1752418328KCNH2n.1518G=
c.685G= (p.Glu229=)
c.337G= (p.Glu113=)
n.908G=
c.385G= (p.Glu129=)
c.535G= (p.Glu179=)
c.508G= (p.Glu170=)
7g.150958290C>GCA369862841KCNH2n.1518G>C
c.685G>C (p.Glu229Gln)
c.337G>C (p.Glu113Gln)
n.908G>C
c.385G>C (p.Glu129Gln)
c.535G>C (p.Glu179Gln)
c.508G>C (p.Glu170Gln)
7g.150958290C>TCA369862839KCNH2n.1518G>A
c.685G>A (p.Glu229Lys)
c.337G>A (p.Glu113Lys)
n.908G>A
c.385G>A (p.Glu129Lys)
c.535G>A (p.Glu179Lys)
c.508G>A (p.Glu170Lys)
ClinVar dbSNP gnomAD v4
7g.150958298_150958372delCA2685608128KCNH2n.1444_1518del
c.611_685del (p.Ala204_Ala228del)
c.263_337del (p.Ala88_Ala112del)
n.834_908del
c.311_385del (p.Ala104_Ala128del)
c.461_535del (p.Ala154_Ala178del)
c.434_508del (p.Ala145_Ala169del)
gnomAD v4
7g.150958291C>ACA458872292KCNH2n.1517G>T
c.684G>T (p.Ala228=)
c.336G>T (p.Ala112=)
n.907G>T
c.384G>T (p.Ala128=)
c.534G>T (p.Ala178=)
c.507G>T (p.Ala169=)
dbSNP gnomAD v2 gnomAD v4
7g.150958291C=CA1752418333KCNH2n.1517G=
c.684G= (p.Ala228=)
c.336G= (p.Ala112=)
n.907G=
c.384G= (p.Ala128=)
c.534G= (p.Ala178=)
c.507G= (p.Ala169=)
7g.150958291C>GCA458872293KCNH2n.1517G>C
c.684G>C (p.Ala228=)
c.336G>C (p.Ala112=)
n.907G>C
c.384G>C (p.Ala128=)
c.534G>C (p.Ala178=)
c.507G>C (p.Ala169=)
ClinVar dbSNP gnomAD v4
7g.150958291C>TCA458872294KCNH2n.1517G>A
c.684G>A (p.Ala228=)
c.336G>A (p.Ala112=)
n.907G>A
c.384G>A (p.Ala128=)
c.534G>A (p.Ala178=)
c.507G>A (p.Ala169=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958292G>ACA369862842KCNH2n.1516C>T
c.683C>T (p.Ala228Val)
c.335C>T (p.Ala112Val)
n.906C>T
c.383C>T (p.Ala128Val)
c.533C>T (p.Ala178Val)
c.506C>T (p.Ala169Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958292G>CCA369862846KCNH2n.1516C>G
c.683C>G (p.Ala228Gly)
c.335C>G (p.Ala112Gly)
n.906C>G
c.383C>G (p.Ala128Gly)
c.533C>G (p.Ala178Gly)
c.506C>G (p.Ala169Gly)
7g.150958292G=CA1752418338KCNH2n.1516C=
c.683C= (p.Ala228=)
c.335C= (p.Ala112=)
n.906C=
c.383C= (p.Ala128=)
c.533C= (p.Ala178=)
c.506C= (p.Ala169=)
7g.150958292G>TCA369862844KCNH2n.1516C>A
c.683C>A (p.Ala228Glu)
c.335C>A (p.Ala112Glu)
n.906C>A
c.383C>A (p.Ala128Glu)
c.533C>A (p.Ala178Glu)
c.506C>A (p.Ala169Glu)
gnomAD v4
7g.150958293C>ACA369862848KCNH2n.1515G>T
c.682G>T (p.Ala228Ser)
c.334G>T (p.Ala112Ser)
n.905G>T
c.382G>T (p.Ala128Ser)
c.532G>T (p.Ala178Ser)
c.505G>T (p.Ala169Ser)
gnomAD v4
7g.150958293C=CA1752418341KCNH2n.1515G=
c.682G= (p.Ala228=)
c.334G= (p.Ala112=)
n.905G=
c.382G= (p.Ala128=)
c.532G= (p.Ala178=)
c.505G= (p.Ala169=)
7g.150958293C>GCA071880KCNH2n.1515G>C
c.682G>C (p.Ala228Pro)
c.334G>C (p.Ala112Pro)
n.905G>C
c.382G>C (p.Ala128Pro)
c.532G>C (p.Ala178Pro)
c.505G>C (p.Ala169Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958293C>TCA071994KCNH2n.1515G>A
c.682G>A (p.Ala228Thr)
c.334G>A (p.Ala112Thr)
n.905G>A
c.382G>A (p.Ala128Thr)
c.532G>A (p.Ala178Thr)
c.505G>A (p.Ala169Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958294G>ACA458872303KCNH2n.1514C>T
c.681C>T (p.Pro227=)
c.333C>T (p.Pro111=)
n.904C>T
c.381C>T (p.Pro127=)
c.531C>T (p.Pro177=)
c.504C>T (p.Pro168=)
dbSNP gnomAD v4
7g.150958294G>CCA458872304KCNH2n.1514C>G
c.681C>G (p.Pro227=)
c.333C>G (p.Pro111=)
n.904C>G
c.381C>G (p.Pro127=)
c.531C>G (p.Pro177=)
c.504C>G (p.Pro168=)
ClinVar dbSNP gnomAD v4
7g.150958294G=CA1752418347KCNH2n.1514C=
c.681C= (p.Pro227=)
c.333C= (p.Pro111=)
n.904C=
c.381C= (p.Pro127=)
c.531C= (p.Pro177=)
c.504C= (p.Pro168=)
7g.150958294G>TCA458872307KCNH2n.1514C>A
c.681C>A (p.Pro227=)
c.333C>A (p.Pro111=)
n.904C>A
c.381C>A (p.Pro127=)
c.531C>A (p.Pro177=)
c.504C>A (p.Pro168=)
ClinVar dbSNP gnomAD v4
7g.150958296delCA2685608157KCNH2n.1514del
c.681del (p.Ala228ArgfsTer?)
c.333del (p.Ala112ArgfsTer?)
n.904del
c.381del (p.Ala128ArgfsTer?)
c.531del (p.Ala178ArgfsTer?)
c.504del (p.Ala169ArgfsTer?)
gnomAD v4
7g.150958295G>ACA369862851KCNH2n.1513C>T
c.680C>T (p.Pro227Leu)
c.332C>T (p.Pro111Leu)
n.903C>T
c.380C>T (p.Pro127Leu)
c.530C>T (p.Pro177Leu)
c.503C>T (p.Pro168Leu)
dbSNP gnomAD v2 gnomAD v4
7g.150958295G>CCA369862852KCNH2n.1513C>G
c.680C>G (p.Pro227Arg)
c.332C>G (p.Pro111Arg)
n.903C>G
c.380C>G (p.Pro127Arg)
c.530C>G (p.Pro177Arg)
c.503C>G (p.Pro168Arg)
ClinVar
7g.150958295G=CA1752418352KCNH2n.1513C=
c.680C= (p.Pro227=)
c.332C= (p.Pro111=)
n.903C=
c.380C= (p.Pro127=)
c.530C= (p.Pro177=)
c.503C= (p.Pro168=)
7g.150958295G>TCA369862854KCNH2n.1513C>A
c.680C>A (p.Pro227His)
c.332C>A (p.Pro111His)
n.903C>A
c.380C>A (p.Pro127His)
c.530C>A (p.Pro177His)
c.503C>A (p.Pro168His)
ClinVar gnomAD v4
7g.150958296G>ACA369862857KCNH2n.1512C>T
c.679C>T (p.Pro227Ser)
c.331C>T (p.Pro111Ser)
n.902C>T
c.379C>T (p.Pro127Ser)
c.529C>T (p.Pro177Ser)
c.502C>T (p.Pro168Ser)
gnomAD v4
7g.150958296G>CCA369862858KCNH2n.1512C>G
c.679C>G (p.Pro227Ala)
c.331C>G (p.Pro111Ala)
n.902C>G
c.379C>G (p.Pro127Ala)
c.529C>G (p.Pro177Ala)
c.502C>G (p.Pro168Ala)
gnomAD v4
7g.150958296G=CA1752418357KCNH2n.1512C=
c.679C= (p.Pro227=)
c.331C= (p.Pro111=)
n.902C=
c.379C= (p.Pro127=)
c.529C= (p.Pro177=)
c.502C= (p.Pro168=)
7g.150958296G>TCA169081336KCNH2n.1512C>A
c.679C>A (p.Pro227Thr)
c.331C>A (p.Pro111Thr)
n.902C>A
c.379C>A (p.Pro127Thr)
c.529C>A (p.Pro177Thr)
c.502C>A (p.Pro168Thr)
dbSNP gnomAD v4
7g.150958296_150958297delinsGCCA1752418356KCNH2n.1511_1512delinsGC
c.678_679delinsGC (p.Gly226=)
c.330_331delinsGC (p.Gly110=)
n.901_902delinsGC
c.378_379delinsGC (p.Gly126=)
c.528_529delinsGC (p.Gly176=)
c.501_502delinsGC (p.Gly167=)
7g.150958297C>ACA458872313KCNH2n.1511G>T
c.678G>T (p.Gly226=)
c.330G>T (p.Gly110=)
n.901G>T
c.378G>T (p.Gly126=)
c.528G>T (p.Gly176=)
c.501G>T (p.Gly167=)
gnomAD v4 COSMIC COSMIC
7g.150958297C=CA1752418362KCNH2n.1511G=
c.678G= (p.Gly226=)
c.330G= (p.Gly110=)
n.901G=
c.378G= (p.Gly126=)
c.528G= (p.Gly176=)
c.501G= (p.Gly167=)
7g.150958297C>GCA458872317KCNH2n.1511G>C
c.678G>C (p.Gly226=)
c.330G>C (p.Gly110=)
n.901G>C
c.378G>C (p.Gly126=)
c.528G>C (p.Gly176=)
c.501G>C (p.Gly167=)
7g.150958297C>TCA458872318KCNH2n.1511G>A
c.678G>A (p.Gly226=)
c.330G>A (p.Gly110=)
n.901G>A
c.378G>A (p.Gly126=)
c.528G>A (p.Gly176=)
c.501G>A (p.Gly167=)
dbSNP gnomAD v3 gnomAD v4
7g.150958299delCA008674KCNH2n.1511del
c.678del (p.Ala228ArgfsTer?)
c.330del (p.Ala112ArgfsTer?)
n.901del
c.378del (p.Ala128ArgfsTer?)
c.528del (p.Ala178ArgfsTer?)
c.501del (p.Ala169ArgfsTer?)
ClinVar dbSNP
7g.150958298C>ACA369862862KCNH2n.1510G>T
c.677G>T (p.Gly226Val)
c.329G>T (p.Gly110Val)
n.900G>T
c.377G>T (p.Gly126Val)
c.527G>T (p.Gly176Val)
c.500G>T (p.Gly167Val)
gnomAD v4
7g.150958298C=CA1752418365KCNH2n.1510G=
c.677G= (p.Gly226=)
c.329G= (p.Gly110=)
n.900G=
c.377G= (p.Gly126=)
c.527G= (p.Gly176=)
c.500G= (p.Gly167=)
7g.150958298C>GCA369862864KCNH2n.1510G>C
c.677G>C (p.Gly226Ala)
c.329G>C (p.Gly110Ala)
n.900G>C
c.377G>C (p.Gly126Ala)
c.527G>C (p.Gly176Ala)
c.500G>C (p.Gly167Ala)
gnomAD v4
7g.150958298C>TCA169081346KCNH2n.1510G>A
c.677G>A (p.Gly226Glu)
c.329G>A (p.Gly110Glu)
n.900G>A
c.377G>A (p.Gly126Glu)
c.527G>A (p.Gly176Glu)
c.500G>A (p.Gly167Glu)
dbSNP gnomAD v4
7g.150958299C>ACA369862870KCNH2n.1509G>T
c.676G>T (p.Gly226Trp)
c.328G>T (p.Gly110Trp)
n.899G>T
c.376G>T (p.Gly126Trp)
c.526G>T (p.Gly176Trp)
c.499G>T (p.Gly167Trp)
gnomAD v4
7g.150958299C>GCA369862868KCNH2n.1509G>C
c.676G>C (p.Gly226Arg)
c.328G>C (p.Gly110Arg)
n.899G>C
c.376G>C (p.Gly126Arg)
c.526G>C (p.Gly176Arg)
c.499G>C (p.Gly167Arg)
ClinVar gnomAD v4
7g.150958299C>TCA369862866KCNH2n.1509G>A
c.676G>A (p.Gly226Arg)
c.328G>A (p.Gly110Arg)
n.899G>A
c.376G>A (p.Gly126Arg)
c.526G>A (p.Gly176Arg)
c.499G>A (p.Gly167Arg)
gnomAD v4
7g.150958300G>ACA040219KCNH2n.1508C>T
c.675C>T (p.Leu225=)
c.327C>T (p.Leu109=)
n.898C>T
c.375C>T (p.Leu125=)
c.525C>T (p.Leu175=)
c.498C>T (p.Leu166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958300G>CCA10628486KCNH2n.1508C>G
c.675C>G (p.Leu225=)
c.327C>G (p.Leu109=)
n.898C>G
c.375C>G (p.Leu125=)
c.525C>G (p.Leu175=)
c.498C>G (p.Leu166=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958300G=CA1752418369KCNH2n.1508C=
c.675C= (p.Leu225=)
c.327C= (p.Leu109=)
n.898C=
c.375C= (p.Leu125=)
c.525C= (p.Leu175=)
c.498C= (p.Leu166=)
7g.150958300G>TCA458872327KCNH2n.1508C>A
c.675C>A (p.Leu225=)
c.327C>A (p.Leu109=)
n.898C>A
c.375C>A (p.Leu125=)
c.525C>A (p.Leu175=)
c.498C>A (p.Leu166=)
gnomAD v4
7g.150958301A>CCA369862874KCNH2n.1507T>G
c.674T>G (p.Leu225Arg)
c.326T>G (p.Leu109Arg)
n.897T>G
c.374T>G (p.Leu125Arg)
c.524T>G (p.Leu175Arg)
c.497T>G (p.Leu166Arg)
7g.150958301A>GCA369862876KCNH2n.1507T>C
c.674T>C (p.Leu225Pro)
c.326T>C (p.Leu109Pro)
n.897T>C
c.374T>C (p.Leu125Pro)
c.524T>C (p.Leu175Pro)
c.497T>C (p.Leu166Pro)
gnomAD v4
7g.150958301A>TCA369862877KCNH2n.1507T>A
c.674T>A (p.Leu225His)
c.326T>A (p.Leu109His)
n.897T>A
c.374T>A (p.Leu125His)
c.524T>A (p.Leu175His)
c.497T>A (p.Leu166His)
gnomAD v4
7g.150958302G>ACA369862880KCNH2n.1506C>T
c.673C>T (p.Leu225Phe)
c.325C>T (p.Leu109Phe)
n.896C>T
c.373C>T (p.Leu125Phe)
c.523C>T (p.Leu175Phe)
c.496C>T (p.Leu166Phe)
gnomAD v4
7g.150958302G>CCA369862881KCNH2n.1506C>G
c.673C>G (p.Leu225Val)
c.325C>G (p.Leu109Val)
n.896C>G
c.373C>G (p.Leu125Val)
c.523C>G (p.Leu175Val)
c.496C>G (p.Leu166Val)
gnomAD v4
7g.150958302G>TCA369862883KCNH2n.1506C>A
c.673C>A (p.Leu225Ile)
c.325C>A (p.Leu109Ile)
n.896C>A
c.373C>A (p.Leu125Ile)
c.523C>A (p.Leu175Ile)
c.496C>A (p.Leu166Ile)
gnomAD v4
7g.150958303C>ACA071875KCNH2n.1505G>T
c.672G>T (p.Gly224=)
c.324G>T (p.Gly108=)
n.895G>T
c.372G>T (p.Gly124=)
c.522G>T (p.Gly174=)
c.495G>T (p.Gly165=)
ClinVar gnomAD v4
7g.150958303C>GCA458872341KCNH2n.1505G>C
c.672G>C (p.Gly224=)
c.324G>C (p.Gly108=)
n.895G>C
c.372G>C (p.Gly124=)
c.522G>C (p.Gly174=)
c.495G>C (p.Gly165=)
gnomAD v4
7g.150958303C>TCA071871KCNH2n.1505G>A
c.672G>A (p.Gly224=)
c.324G>A (p.Gly108=)
n.895G>A
c.372G>A (p.Gly124=)
c.522G>A (p.Gly174=)
c.495G>A (p.Gly165=)
gnomAD v4
7g.150958304C>ACA369862885KCNH2n.1504G>T
c.671G>T (p.Gly224Val)
c.323G>T (p.Gly108Val)
n.894G>T
c.371G>T (p.Gly124Val)
c.521G>T (p.Gly174Val)
c.494G>T (p.Gly165Val)
gnomAD v4
7g.150958304C=CA1752418376KCNH2n.1504G=
c.671G= (p.Gly224=)
c.323G= (p.Gly108=)
n.894G=
c.371G= (p.Gly124=)
c.521G= (p.Gly174=)
c.494G= (p.Gly165=)
7g.150958304C>GCA369862887KCNH2n.1504G>C
c.671G>C (p.Gly224Ala)
c.323G>C (p.Gly108Ala)
n.894G>C
c.371G>C (p.Gly124Ala)
c.521G>C (p.Gly174Ala)
c.494G>C (p.Gly165Ala)
7g.150958304C>TCA369862888KCNH2n.1504G>A
c.671G>A (p.Gly224Glu)
c.323G>A (p.Gly108Glu)
n.894G>A
c.371G>A (p.Gly124Glu)
c.521G>A (p.Gly174Glu)
c.494G>A (p.Gly165Glu)
dbSNP gnomAD v4
7g.150958306_150958309delCA2739278349KCNH2n.1501_1504del
c.668_671del (p.Ala223GlyfsTer?)
c.320_323del (p.Ala107GlyfsTer?)
n.891_894del
c.368_371del (p.Ala123GlyfsTer?)
c.518_521del (p.Ala173GlyfsTer?)
c.491_494del (p.Ala164GlyfsTer?)
ClinVar
7g.150958305C>ACA369862891KCNH2n.1503G>T
c.670G>T (p.Gly224Trp)
c.322G>T (p.Gly108Trp)
n.893G>T
c.370G>T (p.Gly124Trp)
c.520G>T (p.Gly174Trp)
c.493G>T (p.Gly165Trp)
gnomAD v4
7g.150958305C=CA1752418382KCNH2n.1503G=
c.670G= (p.Gly224=)
c.322G= (p.Gly108=)
n.893G=
c.370G= (p.Gly124=)
c.520G= (p.Gly174=)
c.493G= (p.Gly165=)
7g.150958305C>GCA369862893KCNH2n.1503G>C
c.670G>C (p.Gly224Arg)
c.322G>C (p.Gly108Arg)
n.893G>C
c.370G>C (p.Gly124Arg)
c.520G>C (p.Gly174Arg)
c.493G>C (p.Gly165Arg)
dbSNP
7g.150958305C>TCA008669KCNH2n.1503G>A
c.670G>A (p.Gly224Arg)
c.322G>A (p.Gly108Arg)
n.893G>A
c.370G>A (p.Gly124Arg)
c.520G>A (p.Gly174Arg)
c.493G>A (p.Gly165Arg)
ClinVar dbSNP gnomAD v4
7g.150958305_150958310delinsCTGCCACA1752418379KCNH2n.1498_1503delinsTGGCAG
c.665_670delinsTGGCAG (p.Val222=)
c.317_322delinsTGGCAG (p.Val106=)
n.888_893delinsTGGCAG
c.365_370delinsTGGCAG (p.Val122=)
c.515_520delinsTGGCAG (p.Val172=)
c.488_493delinsTGGCAG (p.Val163=)
7g.150958306delCA2499218809KCNH2n.1502del
c.669del (p.Leu225SerfsTer?)
c.321del (p.Leu109SerfsTer?)
n.892del
c.369del (p.Leu125SerfsTer?)
c.519del (p.Leu175SerfsTer?)
c.492del (p.Leu166SerfsTer?)
ClinVar dbSNP gnomAD v4
7g.150958306T>ACA458872353KCNH2n.1502A>T
c.669A>T (p.Ala223=)
c.321A>T (p.Ala107=)
n.892A>T
c.369A>T (p.Ala123=)
c.519A>T (p.Ala173=)
c.492A>T (p.Ala164=)
gnomAD v4
7g.150958306T>CCA458872354KCNH2n.1502A>G
c.669A>G (p.Ala223=)
c.321A>G (p.Ala107=)
n.892A>G
c.369A>G (p.Ala123=)
c.519A>G (p.Ala173=)
c.492A>G (p.Ala164=)
gnomAD v4
7g.150958306T>GCA458872355KCNH2n.1502A>C
c.669A>C (p.Ala223=)
c.321A>C (p.Ala107=)
n.892A>C
c.369A>C (p.Ala123=)
c.519A>C (p.Ala173=)
c.492A>C (p.Ala164=)
7g.150958306_150958310delinsGCA645294046KCNH2n.1498_1502delinsC
c.665_669delinsC (p.Val222AlafsTer?)
c.317_321delinsC (p.Val106AlafsTer?)
n.888_892delinsC
c.365_369delinsC (p.Val122AlafsTer?)
c.515_519delinsC (p.Val172AlafsTer?)
c.488_492delinsC (p.Val163AlafsTer?)
ClinVar dbSNP
7g.150958307delCA2685608227KCNH2n.1501del
c.668del (p.Ala223GlufsTer?)
c.320del (p.Ala107GlufsTer?)
n.891del
c.368del (p.Ala123GlufsTer?)
c.518del (p.Ala173GlufsTer?)
c.491del (p.Ala164GlufsTer?)
gnomAD v4
7g.150958307G>ACA369862895KCNH2n.1501C>T
c.668C>T (p.Ala223Val)
c.320C>T (p.Ala107Val)
n.891C>T
c.368C>T (p.Ala123Val)
c.518C>T (p.Ala173Val)
c.491C>T (p.Ala164Val)
gnomAD v3 gnomAD v4
7g.150958307G>CCA369862896KCNH2n.1501C>G
c.668C>G (p.Ala223Gly)
c.320C>G (p.Ala107Gly)
n.891C>G
c.368C>G (p.Ala123Gly)
c.518C>G (p.Ala173Gly)
c.491C>G (p.Ala164Gly)
gnomAD v4
7g.150958307G>TCA369862897KCNH2n.1501C>A
c.668C>A (p.Ala223Glu)
c.320C>A (p.Ala107Glu)
n.891C>A
c.368C>A (p.Ala123Glu)
c.518C>A (p.Ala173Glu)
c.491C>A (p.Ala164Glu)
gnomAD v4
7g.150958308C>ACA369862900KCNH2n.1500G>T
c.667G>T (p.Ala223Ser)
c.319G>T (p.Ala107Ser)
n.890G>T
c.367G>T (p.Ala123Ser)
c.517G>T (p.Ala173Ser)
c.490G>T (p.Ala164Ser)
gnomAD v4
7g.150958308C=CA1752418388KCNH2n.1500G=
c.667G= (p.Ala223=)
c.319G= (p.Ala107=)
n.890G=
c.367G= (p.Ala123=)
c.517G= (p.Ala173=)
c.490G= (p.Ala164=)
7g.150958308C>GCA040202KCNH2n.1500G>C
c.667G>C (p.Ala223Pro)
c.319G>C (p.Ala107Pro)
n.890G>C
c.367G>C (p.Ala123Pro)
c.517G>C (p.Ala173Pro)
c.490G>C (p.Ala164Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958308C>TCA369862902KCNH2n.1500G>A
c.667G>A (p.Ala223Thr)
c.319G>A (p.Ala107Thr)
n.890G>A
c.367G>A (p.Ala123Thr)
c.517G>A (p.Ala173Thr)
c.490G>A (p.Ala164Thr)
gnomAD v4
7g.150958309C>ACA458872357KCNH2n.1499G>T
c.666G>T (p.Val222=)
c.318G>T (p.Val106=)
n.889G>T
c.366G>T (p.Val122=)
c.516G>T (p.Val172=)
c.489G>T (p.Val163=)
gnomAD v4
7g.150958309C>GCA458872362KCNH2n.1499G>C
c.666G>C (p.Val222=)
c.318G>C (p.Val106=)
n.889G>C
c.366G>C (p.Val122=)
c.516G>C (p.Val172=)
c.489G>C (p.Val163=)
7g.150958309C>TCA458872360KCNH2n.1499G>A
c.666G>A (p.Val222=)
c.318G>A (p.Val106=)
n.889G>A
c.366G>A (p.Val122=)
c.516G>A (p.Val172=)
c.489G>A (p.Val163=)
gnomAD v4
7g.150958310A>CCA369862904KCNH2n.1498T>G
c.665T>G (p.Val222Gly)
c.317T>G (p.Val106Gly)
n.888T>G
c.365T>G (p.Val122Gly)
c.515T>G (p.Val172Gly)
c.488T>G (p.Val163Gly)
7g.150958310A>GCA369862906KCNH2n.1498T>C
c.665T>C (p.Val222Ala)
c.317T>C (p.Val106Ala)
n.888T>C
c.365T>C (p.Val122Ala)
c.515T>C (p.Val172Ala)
c.488T>C (p.Val163Ala)
ClinVar dbSNP gnomAD v4
7g.150958310A>TCA369862908KCNH2n.1498T>A
c.665T>A (p.Val222Glu)
c.317T>A (p.Val106Glu)
n.888T>A
c.365T>A (p.Val122Glu)
c.515T>A (p.Val172Glu)
c.488T>A (p.Val163Glu)
7g.150958311C>ACA071906KCNH2n.1497G>T
c.664G>T (p.Val222Leu)
c.316G>T (p.Val106Leu)
n.887G>T
c.364G>T (p.Val122Leu)
c.514G>T (p.Val172Leu)
c.487G>T (p.Val163Leu)
gnomAD v4
7g.150958311C=CA1752418391KCNH2n.1497G=
c.664G= (p.Val222=)
c.316G= (p.Val106=)
n.887G=
c.364G= (p.Val122=)
c.514G= (p.Val172=)
c.487G= (p.Val163=)
7g.150958311C>GCA369862910KCNH2n.1497G>C
c.664G>C (p.Val222Leu)
c.316G>C (p.Val106Leu)
n.887G>C
c.364G>C (p.Val122Leu)
c.514G>C (p.Val172Leu)
c.487G>C (p.Val163Leu)
dbSNP gnomAD v2 gnomAD v4
7g.150958311C>TCA369862912KCNH2n.1497G>A
c.664G>A (p.Val222Met)
c.316G>A (p.Val106Met)
n.887G>A
c.364G>A (p.Val122Met)
c.514G>A (p.Val172Met)
c.487G>A (p.Val163Met)
ClinVar dbSNP gnomAD v4
7g.150958312G>ACA071984KCNH2n.1496C>T
c.663C>T (p.His221=)
c.315C>T (p.His105=)
n.886C>T
c.363C>T (p.His121=)
c.513C>T (p.His171=)
c.486C>T (p.His162=)
gnomAD v4 COSMIC COSMIC
7g.150958312G>CCA369862914KCNH2n.1496C>G
c.663C>G (p.His221Gln)
c.315C>G (p.His105Gln)
n.886C>G
c.363C>G (p.His121Gln)
c.513C>G (p.His171Gln)
c.486C>G (p.His162Gln)
ClinVar dbSNP gnomAD v4
7g.150958312G=CA1752418394KCNH2n.1496C=
c.663C= (p.His221=)
c.315C= (p.His105=)
n.886C=
c.363C= (p.His121=)
c.513C= (p.His171=)
c.486C= (p.His162=)
7g.150958312G>TCA040187KCNH2n.1496C>A
c.663C>A (p.His221Gln)
c.315C>A (p.His105Gln)
n.886C>A
c.363C>A (p.His121Gln)
c.513C>A (p.His171Gln)
c.486C>A (p.His162Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958313T>ACA369862916KCNH2n.1495A>T
c.662A>T (p.His221Leu)
c.314A>T (p.His105Leu)
n.885A>T
c.362A>T (p.His121Leu)
c.512A>T (p.His171Leu)
c.485A>T (p.His162Leu)
gnomAD v4
7g.150958313T>CCA369862918KCNH2n.1495A>G
c.662A>G (p.His221Arg)
c.314A>G (p.His105Arg)
n.885A>G
c.362A>G (p.His121Arg)
c.512A>G (p.His171Arg)
c.485A>G (p.His162Arg)
ClinVar gnomAD v4
7g.150958313T>GCA369862919KCNH2n.1495A>C
c.662A>C (p.His221Pro)
c.314A>C (p.His105Pro)
n.885A>C
c.362A>C (p.His121Pro)
c.512A>C (p.His171Pro)
c.485A>C (p.His162Pro)
7g.150958314G>ACA369862923KCNH2n.1494C>T
c.661C>T (p.His221Tyr)
c.313C>T (p.His105Tyr)
n.884C>T
c.361C>T (p.His121Tyr)
c.511C>T (p.His171Tyr)
c.484C>T (p.His162Tyr)
gnomAD v4
7g.150958314G>CCA369862924KCNH2n.1494C>G
c.661C>G (p.His221Asp)
c.313C>G (p.His105Asp)
n.884C>G
c.361C>G (p.His121Asp)
c.511C>G (p.His171Asp)
c.484C>G (p.His162Asp)
dbSNP gnomAD v3 gnomAD v4
7g.150958314G=CA1752418398KCNH2n.1494C=
c.661C= (p.His221=)
c.313C= (p.His105=)
n.884C=
c.361C= (p.His121=)
c.511C= (p.His171=)
c.484C= (p.His162=)
7g.150958314G>TCA369862925KCNH2n.1494C>A
c.661C>A (p.His221Asn)
c.313C>A (p.His105Asn)
n.884C>A
c.361C>A (p.His121Asn)
c.511C>A (p.His171Asn)
c.484C>A (p.His162Asn)
gnomAD v4
7g.150958315G>ACA458872378KCNH2n.1493C>T
c.660C>T (p.Asn220=)
c.312C>T (p.Asn104=)
n.883C>T
c.360C>T (p.Asn120=)
c.510C>T (p.Asn170=)
c.483C>T (p.Asn161=)
gnomAD v4
7g.150958315G>CCA369862927KCNH2n.1493C>G
c.660C>G (p.Asn220Lys)
c.312C>G (p.Asn104Lys)
n.883C>G
c.360C>G (p.Asn120Lys)
c.510C>G (p.Asn170Lys)
c.483C>G (p.Asn161Lys)
gnomAD v4
7g.150958315G>TCA369862929KCNH2n.1493C>A
c.660C>A (p.Asn220Lys)
c.312C>A (p.Asn104Lys)
n.883C>A
c.360C>A (p.Asn120Lys)
c.510C>A (p.Asn170Lys)
c.483C>A (p.Asn161Lys)
gnomAD v4
7g.150958316T>ACA369862931KCNH2n.1492A>T
c.659A>T (p.Asn220Ile)
c.311A>T (p.Asn104Ile)
n.882A>T
c.359A>T (p.Asn120Ile)
c.509A>T (p.Asn170Ile)
c.482A>T (p.Asn161Ile)
gnomAD v4
7g.150958316T>CCA369862933KCNH2n.1492A>G
c.659A>G (p.Asn220Ser)
c.311A>G (p.Asn104Ser)
n.882A>G
c.359A>G (p.Asn120Ser)
c.509A>G (p.Asn170Ser)
c.482A>G (p.Asn161Ser)
gnomAD v4
7g.150958316T>GCA369862935KCNH2n.1492A>C
c.659A>C (p.Asn220Thr)
c.311A>C (p.Asn104Thr)
n.882A>C
c.359A>C (p.Asn120Thr)
c.509A>C (p.Asn170Thr)
c.482A>C (p.Asn161Thr)
7g.150958317delCA2697549698KCNH2n.1492del
c.659del (p.Asn220ThrfsTer?)
c.311del (p.Asn104ThrfsTer?)
n.882del
c.359del (p.Asn120ThrfsTer?)
c.509del (p.Asn170ThrfsTer?)
c.482del (p.Asn161ThrfsTer?)
ClinVar
7g.150958317T>ACA369862937KCNH2n.1491A>T
c.658A>T (p.Asn220Tyr)
c.310A>T (p.Asn104Tyr)
n.881A>T
c.358A>T (p.Asn120Tyr)
c.508A>T (p.Asn170Tyr)
c.481A>T (p.Asn161Tyr)
COSMIC COSMIC
7g.150958317T>CCA369862939KCNH2n.1491A>G
c.658A>G (p.Asn220Asp)
c.310A>G (p.Asn104Asp)
n.881A>G
c.358A>G (p.Asn120Asp)
c.508A>G (p.Asn170Asp)
c.481A>G (p.Asn161Asp)
gnomAD v4
7g.150958317T>GCA369862941KCNH2n.1491A>C
c.658A>C (p.Asn220His)
c.310A>C (p.Asn104His)
n.881A>C
c.358A>C (p.Asn120His)
c.508A>C (p.Asn170His)
c.481A>C (p.Asn161His)
7g.150958318delCA2685608280KCNH2n.1490del
c.657del (p.Asp219GlufsTer?)
c.309del (p.Asp103GlufsTer?)
n.880del
c.357del (p.Asp119GlufsTer?)
c.507del (p.Asp169GlufsTer?)
c.480del (p.Asp160GlufsTer?)
gnomAD v4
7g.150958318G>ACA458872389KCNH2n.1490C>T
c.657C>T (p.Asp219=)
c.309C>T (p.Asp103=)
n.880C>T
c.357C>T (p.Asp119=)
c.507C>T (p.Asp169=)
c.480C>T (p.Asp160=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958318G>CCA369862943KCNH2n.1490C>G
c.657C>G (p.Asp219Glu)
c.309C>G (p.Asp103Glu)
n.880C>G
c.357C>G (p.Asp119Glu)
c.507C>G (p.Asp169Glu)
c.480C>G (p.Asp160Glu)
7g.150958318G=CA1752418400KCNH2n.1490C=
c.657C= (p.Asp219=)
c.309C= (p.Asp103=)
n.880C=
c.357C= (p.Asp119=)
c.507C= (p.Asp169=)
c.480C= (p.Asp160=)
7g.150958318G>TCA369862944KCNH2n.1490C>A
c.657C>A (p.Asp219Glu)
c.309C>A (p.Asp103Glu)
n.880C>A
c.357C>A (p.Asp119Glu)
c.507C>A (p.Asp169Glu)
c.480C>A (p.Asp160Glu)
gnomAD v4
7g.150958319T>ACA008651KCNH2n.1489A>T
c.656A>T (p.Asp219Val)
c.308A>T (p.Asp103Val)
n.879A>T
c.356A>T (p.Asp119Val)
c.506A>T (p.Asp169Val)
c.479A>T (p.Asp160Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958319T>CCA369862949KCNH2n.1489A>G
c.656A>G (p.Asp219Gly)
c.308A>G (p.Asp103Gly)
n.879A>G
c.356A>G (p.Asp119Gly)
c.506A>G (p.Asp169Gly)
c.479A>G (p.Asp160Gly)
gnomAD v4
7g.150958319T>GCA369862947KCNH2n.1489A>C
c.656A>C (p.Asp219Ala)
c.308A>C (p.Asp103Ala)
n.879A>C
c.356A>C (p.Asp119Ala)
c.506A>C (p.Asp169Ala)
c.479A>C (p.Asp160Ala)
7g.150958319T=CA1752418404KCNH2n.1489A=
c.656A= (p.Asp219=)
c.308A= (p.Asp103=)
n.879A=
c.356A= (p.Asp119=)
c.506A= (p.Asp169=)
c.479A= (p.Asp160=)
7g.150958320C>ACA369862951KCNH2n.1488G>T
c.655G>T (p.Asp219Tyr)
c.307G>T (p.Asp103Tyr)
n.878G>T
c.355G>T (p.Asp119Tyr)
c.505G>T (p.Asp169Tyr)
c.478G>T (p.Asp160Tyr)
gnomAD v4
7g.150958320C=CA1752418409KCNH2n.1488G=
c.655G= (p.Asp219=)
c.307G= (p.Asp103=)
n.878G=
c.355G= (p.Asp119=)
c.505G= (p.Asp169=)
c.478G= (p.Asp160=)
7g.150958320C>GCA369862953KCNH2n.1488G>C
c.655G>C (p.Asp219His)
c.307G>C (p.Asp103His)
n.878G>C
c.355G>C (p.Asp119His)
c.505G>C (p.Asp169His)
c.478G>C (p.Asp160His)
gnomAD v4
7g.150958320C>TCA369862954KCNH2n.1488G>A
c.655G>A (p.Asp219Asn)
c.307G>A (p.Asp103Asn)
n.878G>A
c.355G>A (p.Asp119Asn)
c.505G>A (p.Asp169Asn)
c.478G>A (p.Asp160Asn)
ClinVar dbSNP gnomAD v4
7g.150958321delCA458872397KCNH2n.1488del
c.655del (p.Asp219ThrfsTer?)
c.307del (p.Asp103ThrfsTer?)
n.878del
c.355del (p.Asp119ThrfsTer?)
c.505del (p.Asp169ThrfsTer?)
c.478del (p.Asp160ThrfsTer?)
COSMIC
7g.150958321C>ACA369862956KCNH2n.1487G>T
c.654G>T (p.Met218Ile)
c.306G>T (p.Met102Ile)
n.877G>T
c.354G>T (p.Met118Ile)
c.504G>T (p.Met168Ile)
c.477G>T (p.Met159Ile)
dbSNP gnomAD v2 gnomAD v4
7g.150958321C=CA1752418417KCNH2n.1487G=
c.654G= (p.Met218=)
c.306G= (p.Met102=)
n.877G=
c.354G= (p.Met118=)
c.504G= (p.Met168=)
c.477G= (p.Met159=)
7g.150958321C>GCA369862957KCNH2n.1487G>C
c.654G>C (p.Met218Ile)
c.306G>C (p.Met102Ile)
n.877G>C
c.354G>C (p.Met118Ile)
c.504G>C (p.Met168Ile)
c.477G>C (p.Met159Ile)
gnomAD v4
7g.150958321C>TCA369862959KCNH2n.1487G>A
c.654G>A (p.Met218Ile)
c.306G>A (p.Met102Ile)
n.877G>A
c.354G>A (p.Met118Ile)
c.504G>A (p.Met168Ile)
c.477G>A (p.Met159Ile)
gnomAD v4
7g.150958322A>CCA369862961KCNH2n.1486T>G
c.653T>G (p.Met218Arg)
c.305T>G (p.Met102Arg)
n.876T>G
c.353T>G (p.Met118Arg)
c.503T>G (p.Met168Arg)
c.476T>G (p.Met159Arg)
7g.150958322A>GCA369862962KCNH2n.1486T>C
c.653T>C (p.Met218Thr)
c.305T>C (p.Met102Thr)
n.876T>C
c.353T>C (p.Met118Thr)
c.503T>C (p.Met168Thr)
c.476T>C (p.Met159Thr)
gnomAD v4
7g.150958322A>TCA369862963KCNH2n.1486T>A
c.653T>A (p.Met218Lys)
c.305T>A (p.Met102Lys)
n.876T>A
c.353T>A (p.Met118Lys)
c.503T>A (p.Met168Lys)
c.476T>A (p.Met159Lys)
gnomAD v4
7g.150958323T>ACA369862965KCNH2n.1485A>T
c.652A>T (p.Met218Leu)
c.304A>T (p.Met102Leu)
n.875A>T
c.352A>T (p.Met118Leu)
c.502A>T (p.Met168Leu)
c.475A>T (p.Met159Leu)
7g.150958323T>CCA008645KCNH2n.1485A>G
c.652A>G (p.Met218Val)
c.304A>G (p.Met102Val)
n.875A>G
c.352A>G (p.Met118Val)
c.502A>G (p.Met168Val)
c.475A>G (p.Met159Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958323T>GCA369862968KCNH2n.1485A>C
c.652A>C (p.Met218Leu)
c.304A>C (p.Met102Leu)
n.875A>C
c.352A>C (p.Met118Leu)
c.502A>C (p.Met168Leu)
c.475A>C (p.Met159Leu)
7g.150958323T=CA1752418421KCNH2n.1485A=
c.652A= (p.Met218=)
c.304A= (p.Met102=)
n.875A=
c.352A= (p.Met118=)
c.502A= (p.Met168=)
c.475A= (p.Met159=)
7g.150958324G>ACA458646519KCNH2n.1484C>T
c.651C>T (p.Ala217=)
c.303C>T (p.Ala101=)
n.874C>T
c.351C>T (p.Ala117=)
c.501C>T (p.Ala167=)
c.474C>T (p.Ala158=)
dbSNP gnomAD v4
7g.150958324G>CCA458646521KCNH2n.1484C>G
c.651C>G (p.Ala217=)
c.303C>G (p.Ala101=)
n.874C>G
c.351C>G (p.Ala117=)
c.501C>G (p.Ala167=)
c.474C>G (p.Ala158=)
gnomAD v4
7g.150958324G=CA1752418427KCNH2n.1484C=
c.651C= (p.Ala217=)
c.303C= (p.Ala101=)
n.874C=
c.351C= (p.Ala117=)
c.501C= (p.Ala167=)
c.474C= (p.Ala158=)
7g.150958324G>TCA458646523KCNH2n.1484C>A
c.651C>A (p.Ala217=)
c.303C>A (p.Ala101=)
n.874C>A
c.351C>A (p.Ala117=)
c.501C>A (p.Ala167=)
c.474C>A (p.Ala158=)
gnomAD v4
7g.150958324_150958325insATCA2567370311KCNH2n.1483_1484insAT
c.650_651insAT (p.Met218SerfsTer?)
c.302_303insAT (p.Met102SerfsTer?)
n.873_874insAT
c.350_351insAT (p.Met118SerfsTer?)
c.500_501insAT (p.Met168SerfsTer?)
c.473_474insAT (p.Met159SerfsTer?)
gnomAD v4
7g.150958325G>ACA369862970KCNH2n.1483C>T
c.650C>T (p.Ala217Val)
c.302C>T (p.Ala101Val)
n.873C>T
c.350C>T (p.Ala117Val)
c.500C>T (p.Ala167Val)
c.473C>T (p.Ala158Val)
dbSNP gnomAD v2 gnomAD v4
7g.150958325G>CCA369862973KCNH2n.1483C>G
c.650C>G (p.Ala217Gly)
c.302C>G (p.Ala101Gly)
n.873C>G
c.350C>G (p.Ala117Gly)
c.500C>G (p.Ala167Gly)
c.473C>G (p.Ala158Gly)
gnomAD v4
7g.150958325G=CA1752418429KCNH2n.1483C=
c.650C= (p.Ala217=)
c.302C= (p.Ala101=)
n.873C=
c.350C= (p.Ala117=)
c.500C= (p.Ala167=)
c.473C= (p.Ala158=)
7g.150958325G>TCA369862971KCNH2n.1483C>A
c.650C>A (p.Ala217Asp)
c.302C>A (p.Ala101Asp)
n.873C>A
c.350C>A (p.Ala117Asp)
c.500C>A (p.Ala167Asp)
c.473C>A (p.Ala158Asp)
ClinVar gnomAD v4
7g.150958326C>ACA369862975KCNH2n.1482G>T
c.649G>T (p.Ala217Ser)
c.301G>T (p.Ala101Ser)
n.872G>T
c.349G>T (p.Ala117Ser)
c.499G>T (p.Ala167Ser)
c.472G>T (p.Ala158Ser)
gnomAD v4
7g.150958326C>GCA369862976KCNH2n.1482G>C
c.649G>C (p.Ala217Pro)
c.301G>C (p.Ala101Pro)
n.872G>C
c.349G>C (p.Ala117Pro)
c.499G>C (p.Ala167Pro)
c.472G>C (p.Ala158Pro)
gnomAD v4
7g.150958326C>TCA369862978KCNH2n.1482G>A
c.649G>A (p.Ala217Thr)
c.301G>A (p.Ala101Thr)
n.872G>A
c.349G>A (p.Ala117Thr)
c.499G>A (p.Ala167Thr)
c.472G>A (p.Ala158Thr)
gnomAD v4
7g.150958326_150958327delCA2546923698KCNH2n.1481_1482del
c.648_649del (p.Ala217HisfsTer?)
c.300_301del (p.Ala101HisfsTer?)
n.871_872del
c.348_349del (p.Ala117HisfsTer?)
c.498_499del (p.Ala167HisfsTer?)
c.471_472del (p.Ala158HisfsTer?)
gnomAD v4
7g.150958327delCA2685608307KCNH2n.1481del
c.648del (p.Ala217ProfsTer?)
c.300del (p.Ala101ProfsTer?)
n.871del
c.348del (p.Ala117ProfsTer?)
c.498del (p.Ala167ProfsTer?)
c.471del (p.Ala158ProfsTer?)
gnomAD v4
7g.150958327T>ACA458646529KCNH2n.1481A>T
c.648A>T (p.Thr216=)
c.300A>T (p.Thr100=)
n.871A>T
c.348A>T (p.Thr116=)
c.498A>T (p.Thr166=)
c.471A>T (p.Thr157=)
7g.150958327T>CCA458646531KCNH2n.1481A>G
c.648A>G (p.Thr216=)
c.300A>G (p.Thr100=)
n.871A>G
c.348A>G (p.Thr116=)
c.498A>G (p.Thr166=)
c.471A>G (p.Thr157=)
gnomAD v4
7g.150958327T>GCA458646532KCNH2n.1481A>C
c.648A>C (p.Thr216=)
c.300A>C (p.Thr100=)
n.871A>C
c.348A>C (p.Thr116=)
c.498A>C (p.Thr166=)
c.471A>C (p.Thr157=)
gnomAD v4
7g.150958328G>ACA369862979KCNH2n.1480C>T
c.647C>T (p.Thr216Ile)
c.299C>T (p.Thr100Ile)
n.870C>T
c.347C>T (p.Thr116Ile)
c.497C>T (p.Thr166Ile)
c.470C>T (p.Thr157Ile)
ClinVar dbSNP gnomAD v4
7g.150958328G>CCA369862981KCNH2n.1480C>G
c.647C>G (p.Thr216Arg)
c.299C>G (p.Thr100Arg)
n.870C>G
c.347C>G (p.Thr116Arg)
c.497C>G (p.Thr166Arg)
c.470C>G (p.Thr157Arg)
7g.150958328G=CA1752418432KCNH2n.1480C=
c.647C= (p.Thr216=)
c.299C= (p.Thr100=)
n.870C=
c.347C= (p.Thr116=)
c.497C= (p.Thr166=)
c.470C= (p.Thr157=)
7g.150958328G>TCA369862983KCNH2n.1480C>A
c.647C>A (p.Thr216Lys)
c.299C>A (p.Thr100Lys)
n.870C>A
c.347C>A (p.Thr116Lys)
c.497C>A (p.Thr166Lys)
c.470C>A (p.Thr157Lys)
dbSNP gnomAD v4
7g.150958329T>ACA369862984KCNH2n.1479A>T
c.646A>T (p.Thr216Ser)
c.298A>T (p.Thr100Ser)
n.869A>T
c.346A>T (p.Thr116Ser)
c.496A>T (p.Thr166Ser)
c.469A>T (p.Thr157Ser)
gnomAD v4
7g.150958329T>CCA369862986KCNH2n.1479A>G
c.646A>G (p.Thr216Ala)
c.298A>G (p.Thr100Ala)
n.869A>G
c.346A>G (p.Thr116Ala)
c.496A>G (p.Thr166Ala)
c.469A>G (p.Thr157Ala)
dbSNP gnomAD v2 gnomAD v4
7g.150958329T>GCA369862988KCNH2n.1479A>C
c.646A>C (p.Thr216Pro)
c.298A>C (p.Thr100Pro)
n.869A>C
c.346A>C (p.Thr116Pro)
c.496A>C (p.Thr166Pro)
c.469A>C (p.Thr157Pro)
7g.150958329T=CA1752418436KCNH2n.1479A=
c.646A= (p.Thr216=)
c.298A= (p.Thr100=)
n.869A=
c.346A= (p.Thr116=)
c.496A= (p.Thr166=)
c.469A= (p.Thr157=)
7g.150958330C>ACA458646538KCNH2n.1478G>T
c.645G>T (p.Val215=)
c.297G>T (p.Val99=)
n.868G>T
c.345G>T (p.Val115=)
c.495G>T (p.Val165=)
c.468G>T (p.Val156=)
gnomAD v4
7g.150958330C>GCA458646541KCNH2n.1478G>C
c.645G>C (p.Val215=)
c.297G>C (p.Val99=)
n.868G>C
c.345G>C (p.Val115=)
c.495G>C (p.Val165=)
c.468G>C (p.Val156=)
7g.150958330C>TCA458646540KCNH2n.1478G>A
c.645G>A (p.Val215=)
c.297G>A (p.Val99=)
n.868G>A
c.345G>A (p.Val115=)
c.495G>A (p.Val165=)
c.468G>A (p.Val156=)
gnomAD v4
7g.150958331A=CA1752418439KCNH2n.1477T=
c.644T= (p.Val215=)
c.296T= (p.Val99=)
n.867T=
c.344T= (p.Val115=)
c.494T= (p.Val165=)
c.467T= (p.Val156=)
7g.150958331A>CCA008637KCNH2n.1477T>G
c.644T>G (p.Val215Gly)
c.296T>G (p.Val99Gly)
n.867T>G
c.344T>G (p.Val115Gly)
c.494T>G (p.Val165Gly)
c.467T>G (p.Val156Gly)
ClinVar dbSNP
7g.150958331A>GCA369862993KCNH2n.1477T>C
c.644T>C (p.Val215Ala)
c.296T>C (p.Val99Ala)
n.867T>C
c.344T>C (p.Val115Ala)
c.494T>C (p.Val165Ala)
c.467T>C (p.Val156Ala)
gnomAD v4
7g.150958331A>TCA369862990KCNH2n.1477T>A
c.644T>A (p.Val215Glu)
c.296T>A (p.Val99Glu)
n.867T>A
c.344T>A (p.Val115Glu)
c.494T>A (p.Val165Glu)
c.467T>A (p.Val156Glu)
gnomAD v4
7g.150958332C>ACA369862994KCNH2n.1476G>T
c.643G>T (p.Val215Leu)
c.295G>T (p.Val99Leu)
n.866G>T
c.343G>T (p.Val115Leu)
c.493G>T (p.Val165Leu)
c.466G>T (p.Val156Leu)
gnomAD v4
7g.150958332C>GCA369862996KCNH2n.1476G>C
c.643G>C (p.Val215Leu)
c.295G>C (p.Val99Leu)
n.866G>C
c.343G>C (p.Val115Leu)
c.493G>C (p.Val165Leu)
c.466G>C (p.Val156Leu)
7g.150958332C>TCA369862997KCNH2n.1476G>A
c.643G>A (p.Val215Met)
c.295G>A (p.Val99Met)
n.866G>A
c.343G>A (p.Val115Met)
c.493G>A (p.Val165Met)
c.466G>A (p.Val156Met)
gnomAD v4
7g.150958333T>ACA369862999KCNH2n.1475A>T
c.642A>T (p.Glu214Asp)
c.294A>T (p.Glu98Asp)
n.865A>T
c.342A>T (p.Glu114Asp)
c.492A>T (p.Glu164Asp)
c.465A>T (p.Glu155Asp)
gnomAD v4
7g.150958333T>CCA458646547KCNH2n.1475A>G
c.642A>G (p.Glu214=)
c.294A>G (p.Glu98=)
n.865A>G
c.342A>G (p.Glu114=)
c.492A>G (p.Glu164=)
c.465A>G (p.Glu155=)
dbSNP gnomAD v4
7g.150958333T>GCA369863000KCNH2n.1475A>C
c.642A>C (p.Glu214Asp)
c.294A>C (p.Glu98Asp)
n.865A>C
c.342A>C (p.Glu114Asp)
c.492A>C (p.Glu164Asp)
c.465A>C (p.Glu155Asp)
7g.150958333T=CA1752418443KCNH2n.1475A=
c.642A= (p.Glu214=)
c.294A= (p.Glu98=)
n.865A=
c.342A= (p.Glu114=)
c.492A= (p.Glu164=)
c.465A= (p.Glu155=)
7g.150958334T>ACA369863002KCNH2n.1474A>T
c.641A>T (p.Glu214Val)
c.293A>T (p.Glu98Val)
n.864A>T
c.341A>T (p.Glu114Val)
c.491A>T (p.Glu164Val)
c.464A>T (p.Glu155Val)
7g.150958334T>CCA369863004KCNH2n.1474A>G
c.641A>G (p.Glu214Gly)
c.293A>G (p.Glu98Gly)
n.864A>G
c.341A>G (p.Glu114Gly)
c.491A>G (p.Glu164Gly)
c.464A>G (p.Glu155Gly)
gnomAD v4
7g.150958334T>GCA369863005KCNH2n.1474A>C
c.641A>C (p.Glu214Ala)
c.293A>C (p.Glu98Ala)
n.864A>C
c.341A>C (p.Glu114Ala)
c.491A>C (p.Glu164Ala)
c.464A>C (p.Glu155Ala)
7g.150958335C>ACA369863008KCNH2n.1473G>T
c.640G>T (p.Glu214Ter)
c.292G>T (p.Glu98Ter)
n.863G>T
c.340G>T (p.Glu114Ter)
c.490G>T (p.Glu164Ter)
c.463G>T (p.Glu155Ter)
ClinVar gnomAD v4
7g.150958335C=CA1752418447KCNH2n.1473G=
c.640G= (p.Glu214=)
c.292G= (p.Glu98=)
n.863G=
c.340G= (p.Glu114=)
c.490G= (p.Glu164=)
c.463G= (p.Glu155=)
7g.150958335C>GCA369863009KCNH2n.1473G>C
c.640G>C (p.Glu214Gln)
c.292G>C (p.Glu98Gln)
n.863G>C
c.340G>C (p.Glu114Gln)
c.490G>C (p.Glu164Gln)
c.463G>C (p.Glu155Gln)
7g.150958335C>TCA040168KCNH2n.1473G>A
c.640G>A (p.Glu214Lys)
c.292G>A (p.Glu98Lys)
n.863G>A
c.340G>A (p.Glu114Lys)
c.490G>A (p.Glu164Lys)
c.463G>A (p.Glu155Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958336G>ACA458646554KCNH2n.1472C>T
c.639C>T (p.Asp213=)
c.291C>T (p.Asp97=)
n.862C>T
c.339C>T (p.Asp113=)
c.489C>T (p.Asp163=)
c.462C>T (p.Asp154=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958336G>CCA369863012KCNH2n.1472C>G
c.639C>G (p.Asp213Glu)
c.291C>G (p.Asp97Glu)
n.862C>G
c.339C>G (p.Asp113Glu)
c.489C>G (p.Asp163Glu)
c.462C>G (p.Asp154Glu)
7g.150958336G=CA1752418450KCNH2n.1472C=
c.639C= (p.Asp213=)
c.291C= (p.Asp97=)
n.862C=
c.339C= (p.Asp113=)
c.489C= (p.Asp163=)
c.462C= (p.Asp154=)
7g.150958336G>TCA369863014KCNH2n.1472C>A
c.639C>A (p.Asp213Glu)
c.291C>A (p.Asp97Glu)
n.862C>A
c.339C>A (p.Asp113Glu)
c.489C>A (p.Asp163Glu)
c.462C>A (p.Asp154Glu)
gnomAD v4
7g.150958337T>ACA369863019KCNH2n.1471A>T
c.638A>T (p.Asp213Val)
c.290A>T (p.Asp97Val)
n.861A>T
c.338A>T (p.Asp113Val)
c.488A>T (p.Asp163Val)
c.461A>T (p.Asp154Val)
gnomAD v4
7g.150958337T>CCA040150KCNH2n.1471A>G
c.638A>G (p.Asp213Gly)
c.290A>G (p.Asp97Gly)
n.861A>G
c.338A>G (p.Asp113Gly)
c.488A>G (p.Asp163Gly)
c.461A>G (p.Asp154Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958337T>GCA369863016KCNH2n.1471A>C
c.638A>C (p.Asp213Ala)
c.290A>C (p.Asp97Ala)
n.861A>C
c.338A>C (p.Asp113Ala)
c.488A>C (p.Asp163Ala)
c.461A>C (p.Asp154Ala)
7g.150958337T=CA1752418456KCNH2n.1471A=
c.638A= (p.Asp213=)
c.290A= (p.Asp97=)
n.861A=
c.338A= (p.Asp113=)
c.488A= (p.Asp163=)
c.461A= (p.Asp154=)
7g.150958338C>ACA369863020KCNH2n.1470G>T
c.637G>T (p.Asp213Tyr)
c.289G>T (p.Asp97Tyr)
n.860G>T
c.337G>T (p.Asp113Tyr)
c.487G>T (p.Asp163Tyr)
c.460G>T (p.Asp154Tyr)
gnomAD v4
7g.150958338C=CA1752418462KCNH2n.1470G=
c.637G= (p.Asp213=)
c.289G= (p.Asp97=)
n.860G=
c.337G= (p.Asp113=)
c.487G= (p.Asp163=)
c.460G= (p.Asp154=)
7g.150958338C>GCA369863022KCNH2n.1470G>C
c.637G>C (p.Asp213His)
c.289G>C (p.Asp97His)
n.860G>C
c.337G>C (p.Asp113His)
c.487G>C (p.Asp163His)
c.460G>C (p.Asp154His)
gnomAD v4
7g.150958338C>TCA369863023KCNH2n.1470G>A
c.637G>A (p.Asp213Asn)
c.289G>A (p.Asp97Asn)
n.860G>A
c.337G>A (p.Asp113Asn)
c.487G>A (p.Asp163Asn)
c.460G>A (p.Asp154Asn)
dbSNP gnomAD v4
7g.150958339delCA2685608358KCNH2n.1470del
c.637del (p.Asp213ThrfsTer3)
c.289del (p.Asp97ThrfsTer3)
n.860del
c.337del (p.Asp113ThrfsTer3)
c.487del (p.Asp163ThrfsTer3)
c.460del (p.Asp154ThrfsTer3)
gnomAD v4
7g.150958339C>ACA458646564KCNH2n.1469G>T
c.636G>T (p.Leu212=)
c.288G>T (p.Leu96=)
n.859G>T
c.336G>T (p.Leu112=)
c.486G>T (p.Leu162=)
c.459G>T (p.Leu153=)
gnomAD v4
7g.150958339C=CA1752418464KCNH2n.1469G=
c.636G= (p.Leu212=)
c.288G= (p.Leu96=)
n.859G=
c.336G= (p.Leu112=)
c.486G= (p.Leu162=)
c.459G= (p.Leu153=)
7g.150958339C>GCA040142KCNH2n.1469G>C
c.636G>C (p.Leu212=)
c.288G>C (p.Leu96=)
n.859G>C
c.336G>C (p.Leu112=)
c.486G>C (p.Leu162=)
c.459G>C (p.Leu153=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958339C>TCA458646561KCNH2n.1469G>A
c.636G>A (p.Leu212=)
c.288G>A (p.Leu96=)
n.859G>A
c.336G>A (p.Leu112=)
c.486G>A (p.Leu162=)
c.459G>A (p.Leu153=)
gnomAD v4
7g.150958340delCA071918KCNH2n.1468del
c.635del (p.Leu212ArgfsTer4)
c.287del (p.Leu96ArgfsTer4)
n.858del
c.335del (p.Leu112ArgfsTer4)
c.485del (p.Leu162ArgfsTer4)
c.458del (p.Leu153ArgfsTer4)
7g.150958340A=CA1752418471KCNH2n.1468T=
c.635T= (p.Leu212=)
c.287T= (p.Leu96=)
n.858T=
c.335T= (p.Leu112=)
c.485T= (p.Leu162=)
c.458T= (p.Leu153=)
7g.150958340A>CCA369863026KCNH2n.1468T>G
c.635T>G (p.Leu212Arg)
c.287T>G (p.Leu96Arg)
n.858T>G
c.335T>G (p.Leu112Arg)
c.485T>G (p.Leu162Arg)
c.458T>G (p.Leu153Arg)
7g.150958340A>GCA369863027KCNH2n.1468T>C
c.635T>C (p.Leu212Pro)
c.287T>C (p.Leu96Pro)
n.858T>C
c.335T>C (p.Leu112Pro)
c.485T>C (p.Leu162Pro)
c.458T>C (p.Leu153Pro)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.150958340A>TCA369863028KCNH2n.1468T>A
c.635T>A (p.Leu212Gln)
c.287T>A (p.Leu96Gln)
n.858T>A
c.335T>A (p.Leu112Gln)
c.485T>A (p.Leu162Gln)
c.458T>A (p.Leu153Gln)
gnomAD v4
7g.150958341G>ACA458646568KCNH2n.1467C>T
c.634C>T (p.Leu212=)
c.286C>T (p.Leu96=)
n.857C>T
c.334C>T (p.Leu112=)
c.484C>T (p.Leu162=)
c.457C>T (p.Leu153=)
dbSNP gnomAD v4
7g.150958341G>CCA369863029KCNH2n.1467C>G
c.634C>G (p.Leu212Val)
c.286C>G (p.Leu96Val)
n.857C>G
c.334C>G (p.Leu112Val)
c.484C>G (p.Leu162Val)
c.457C>G (p.Leu153Val)
7g.150958341G=CA1752418475KCNH2n.1467C=
c.634C= (p.Leu212=)
c.286C= (p.Leu96=)
n.857C=
c.334C= (p.Leu112=)
c.484C= (p.Leu162=)
c.457C= (p.Leu153=)
7g.150958341G>TCA369863031KCNH2n.1467C>A
c.634C>A (p.Leu212Met)
c.286C>A (p.Leu96Met)
n.857C>A
c.334C>A (p.Leu112Met)
c.484C>A (p.Leu162Met)
c.457C>A (p.Leu153Met)
gnomAD v4
7g.150958343delCA2685608374KCNH2n.1467del
c.634del (p.Leu212TrpfsTer4)
c.286del (p.Leu96TrpfsTer4)
n.857del
c.334del (p.Leu112TrpfsTer4)
c.484del (p.Leu162TrpfsTer4)
c.457del (p.Leu153TrpfsTer4)
gnomAD v4
7g.150958342G>ACA040124KCNH2n.1466C>T
c.633C>T (p.Ala211=)
c.285C>T (p.Ala95=)
n.856C>T
c.333C>T (p.Ala111=)
c.483C>T (p.Ala161=)
c.456C>T (p.Ala152=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958342G>CCA458646572KCNH2n.1466C>G
c.633C>G (p.Ala211=)
c.285C>G (p.Ala95=)
n.856C>G
c.333C>G (p.Ala111=)
c.483C>G (p.Ala161=)
c.456C>G (p.Ala152=)
gnomAD v4
7g.150958342G=CA1752418477KCNH2n.1466C=
c.633C= (p.Ala211=)
c.285C= (p.Ala95=)
n.856C=
c.333C= (p.Ala111=)
c.483C= (p.Ala161=)
c.456C= (p.Ala152=)
7g.150958342G>TCA458646573KCNH2n.1466C>A
c.633C>A (p.Ala211=)
c.285C>A (p.Ala95=)
n.856C>A
c.333C>A (p.Ala111=)
c.483C>A (p.Ala161=)
c.456C>A (p.Ala152=)
gnomAD v4
7g.150958343G>ACA369863034KCNH2n.1465C>T
c.632C>T (p.Ala211Val)
c.284C>T (p.Ala95Val)
n.855C>T
c.332C>T (p.Ala111Val)
c.482C>T (p.Ala161Val)
c.455C>T (p.Ala152Val)
ClinVar gnomAD v4
7g.150958343G>CCA369863036KCNH2n.1465C>G
c.632C>G (p.Ala211Gly)
c.284C>G (p.Ala95Gly)
n.855C>G
c.332C>G (p.Ala111Gly)
c.482C>G (p.Ala161Gly)
c.455C>G (p.Ala152Gly)
gnomAD v4
7g.150958343G=CA1752418480KCNH2n.1465C=
c.632C= (p.Ala211=)
c.284C= (p.Ala95=)
n.855C=
c.332C= (p.Ala111=)
c.482C= (p.Ala161=)
c.455C= (p.Ala152=)
7g.150958343G>TCA169081387KCNH2n.1465C>A
c.632C>A (p.Ala211Asp)
c.284C>A (p.Ala95Asp)
n.855C>A
c.332C>A (p.Ala111Asp)
c.482C>A (p.Ala161Asp)
c.455C>A (p.Ala152Asp)
dbSNP gnomAD v4
7g.150958344C>ACA169081388KCNH2n.1464G>T
c.631G>T (p.Ala211Ser)
c.283G>T (p.Ala95Ser)
n.854G>T
c.331G>T (p.Ala111Ser)
c.481G>T (p.Ala161Ser)
c.454G>T (p.Ala152Ser)
dbSNP gnomAD v4
7g.150958344C=CA1752418482KCNH2n.1464G=
c.631G= (p.Ala211=)
c.283G= (p.Ala95=)
n.854G=
c.331G= (p.Ala111=)
c.481G= (p.Ala161=)
c.454G= (p.Ala152=)
7g.150958344C>GCA369863040KCNH2n.1464G>C
c.631G>C (p.Ala211Pro)
c.283G>C (p.Ala95Pro)
n.854G>C
c.331G>C (p.Ala111Pro)
c.481G>C (p.Ala161Pro)
c.454G>C (p.Ala152Pro)
7g.150958344C>TCA071854KCNH2n.1464G>A
c.631G>A (p.Ala211Thr)
c.283G>A (p.Ala95Thr)
n.854G>A
c.331G>A (p.Ala111Thr)
c.481G>A (p.Ala161Thr)
c.454G>A (p.Ala152Thr)
gnomAD v4
7g.150958345delCA2685608398KCNH2n.1464del
c.631del (p.Ala211ProfsTer5)
c.283del (p.Ala95ProfsTer5)
n.854del
c.331del (p.Ala111ProfsTer5)
c.481del (p.Ala161ProfsTer5)
c.454del (p.Ala152ProfsTer5)
gnomAD v4
7g.150958345C>ACA458646580KCNH2n.1463G>T
c.630G>T (p.Leu210=)
c.282G>T (p.Leu94=)
n.853G>T
c.330G>T (p.Leu110=)
c.480G>T (p.Leu160=)
c.453G>T (p.Leu151=)
dbSNP gnomAD v4
7g.150958345C=CA1752418484KCNH2n.1463G=
c.630G= (p.Leu210=)
c.282G= (p.Leu94=)
n.853G=
c.330G= (p.Leu110=)
c.480G= (p.Leu160=)
c.453G= (p.Leu151=)
7g.150958345C>GCA458646581KCNH2n.1463G>C
c.630G>C (p.Leu210=)
c.282G>C (p.Leu94=)
n.853G>C
c.330G>C (p.Leu110=)
c.480G>C (p.Leu160=)
c.453G>C (p.Leu151=)
dbSNP gnomAD v2 gnomAD v4
7g.150958345C>TCA458646582KCNH2n.1463G>A
c.630G>A (p.Leu210=)
c.282G>A (p.Leu94=)
n.853G>A
c.330G>A (p.Leu110=)
c.480G>A (p.Leu160=)
c.453G>A (p.Leu151=)
gnomAD v4
7g.150958346A=CA1752418488KCNH2n.1462T=
c.629T= (p.Leu210=)
c.281T= (p.Leu94=)
n.852T=
c.329T= (p.Leu110=)
c.479T= (p.Leu160=)
c.452T= (p.Leu151=)
7g.150958346A>CCA369863044KCNH2n.1462T>G
c.629T>G (p.Leu210Arg)
c.281T>G (p.Leu94Arg)
n.852T>G
c.329T>G (p.Leu110Arg)
c.479T>G (p.Leu160Arg)
c.452T>G (p.Leu151Arg)
7g.150958346A>GCA369863042KCNH2n.1462T>C
c.629T>C (p.Leu210Pro)
c.281T>C (p.Leu94Pro)
n.852T>C
c.329T>C (p.Leu110Pro)
c.479T>C (p.Leu160Pro)
c.452T>C (p.Leu151Pro)
ClinVar dbSNP gnomAD v4
7g.150958346A>TCA369863046KCNH2n.1462T>A
c.629T>A (p.Leu210Gln)
c.281T>A (p.Leu94Gln)
n.852T>A
c.329T>A (p.Leu110Gln)
c.479T>A (p.Leu160Gln)
c.452T>A (p.Leu151Gln)
ClinVar dbSNP gnomAD v4
7g.150958347G>ACA458646586KCNH2n.1461C>T
c.628C>T (p.Leu210=)
c.280C>T (p.Leu94=)
n.851C>T
c.328C>T (p.Leu110=)
c.478C>T (p.Leu160=)
c.451C>T (p.Leu151=)
gnomAD v4
7g.150958347G>CCA369863048KCNH2n.1461C>G
c.628C>G (p.Leu210Val)
c.280C>G (p.Leu94Val)
n.851C>G
c.328C>G (p.Leu110Val)
c.478C>G (p.Leu160Val)
c.451C>G (p.Leu151Val)
gnomAD v4
7g.150958347G>TCA369863049KCNH2n.1461C>A
c.628C>A (p.Leu210Met)
c.280C>A (p.Leu94Met)
n.851C>A
c.328C>A (p.Leu110Met)
c.478C>A (p.Leu160Met)
c.451C>A (p.Leu151Met)
gnomAD v4
7g.150958348C>ACA169081389KCNH2n.1460G>T
c.627G>T (p.Ser209=)
c.279G>T (p.Ser93=)
n.850G>T
c.327G>T (p.Ser109=)
c.477G>T (p.Ser159=)
c.450G>T (p.Ser150=)
ClinVar dbSNP gnomAD v4
7g.150958348C=CA1752418492KCNH2n.1460G=
c.627G= (p.Ser209=)
c.279G= (p.Ser93=)
n.850G=
c.327G= (p.Ser109=)
c.477G= (p.Ser159=)
c.450G= (p.Ser150=)
7g.150958348C>GCA458646590KCNH2n.1460G>C
c.627G>C (p.Ser209=)
c.279G>C (p.Ser93=)
n.850G>C
c.327G>C (p.Ser109=)
c.477G>C (p.Ser159=)
c.450G>C (p.Ser150=)
gnomAD v4
7g.150958348C>TCA458646592KCNH2n.1460G>A
c.627G>A (p.Ser209=)
c.279G>A (p.Ser93=)
n.850G>A
c.327G>A (p.Ser109=)
c.477G>A (p.Ser159=)
c.450G>A (p.Ser150=)
gnomAD v4
7g.150958349G>ACA071932KCNH2n.1459C>T
c.626C>T (p.Ser209Leu)
c.278C>T (p.Ser93Leu)
n.849C>T
c.326C>T (p.Ser109Leu)
c.476C>T (p.Ser159Leu)
c.449C>T (p.Ser150Leu)
dbSNP gnomAD v4
7g.150958349G>CCA369863052KCNH2n.1459C>G
c.626C>G (p.Ser209Trp)
c.278C>G (p.Ser93Trp)
n.849C>G
c.326C>G (p.Ser109Trp)
c.476C>G (p.Ser159Trp)
c.449C>G (p.Ser150Trp)
7g.150958349G=CA1752418494KCNH2n.1459C=
c.626C= (p.Ser209=)
c.278C= (p.Ser93=)
n.849C=
c.326C= (p.Ser109=)
c.476C= (p.Ser159=)
c.449C= (p.Ser150=)
7g.150958349G>TCA369863054KCNH2n.1459C>A
c.626C>A (p.Ser209Ter)
c.278C>A (p.Ser93Ter)
n.849C>A
c.326C>A (p.Ser109Ter)
c.476C>A (p.Ser159Ter)
c.449C>A (p.Ser150Ter)
gnomAD v4
7g.150958350A>CCA369863057KCNH2n.1458T>G
c.625T>G (p.Ser209Ala)
c.277T>G (p.Ser93Ala)
n.848T>G
c.325T>G (p.Ser109Ala)
c.475T>G (p.Ser159Ala)
c.448T>G (p.Ser150Ala)
7g.150958350A>GCA369863058KCNH2n.1458T>C
c.625T>C (p.Ser209Pro)
c.277T>C (p.Ser93Pro)
n.848T>C
c.325T>C (p.Ser109Pro)
c.475T>C (p.Ser159Pro)
c.448T>C (p.Ser150Pro)
gnomAD v4
7g.150958350A>TCA369863059KCNH2n.1458T>A
c.625T>A (p.Ser209Thr)
c.277T>A (p.Ser93Thr)
n.848T>A
c.325T>A (p.Ser109Thr)
c.475T>A (p.Ser159Thr)
c.448T>A (p.Ser150Thr)
gnomAD v4
7g.150958351C>ACA369863062KCNH2n.1457G>T
c.624G>T (p.Glu208Asp)
c.276G>T (p.Glu92Asp)
n.847G>T
c.324G>T (p.Glu108Asp)
c.474G>T (p.Glu158Asp)
c.447G>T (p.Glu149Asp)
gnomAD v4
7g.150958351C>GCA369863064KCNH2n.1457G>C
c.624G>C (p.Glu208Asp)
c.276G>C (p.Glu92Asp)
n.847G>C
c.324G>C (p.Glu108Asp)
c.474G>C (p.Glu158Asp)
c.447G>C (p.Glu149Asp)
7g.150958351C>TCA458646597KCNH2n.1457G>A
c.624G>A (p.Glu208=)
c.276G>A (p.Glu92=)
n.847G>A
c.324G>A (p.Glu108=)
c.474G>A (p.Glu158=)
c.447G>A (p.Glu149=)
ClinVar gnomAD v4

Number of alleles fetched