Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.73329538G>ACA2629388575HCN4c.1590+35C>T (n.1590+35C>T)
c.372+35C>T (n.372+35C>T)
 gnomAD v4
15g.73329539G>ACA2629388576HCN4c.1590+34C>T (n.1590+34C>T)
c.372+34C>T (n.372+34C>T)
 gnomAD v4
15g.73329539G>CCA2629388577HCN4c.1590+34C>G (n.1590+34C>G)
c.372+34C>G (n.372+34C>G)
 gnomAD v4
15g.73329539G>TCA2575783931HCN4c.1590+34C>A (n.1590+34C>A)
c.372+34C>A (n.372+34C>A)
 gnomAD v4
15g.73329540A>CCA656217144HCN4c.1590+33T>G (n.1590+33T>G)
c.372+33T>G (n.372+33T>G)
 COSMIC
15g.73329541C>GCA2575783932HCN4c.1590+32G>C (n.1590+32G>C)
c.372+32G>C (n.372+32G>C)
15g.73329542C>ACA2575783933HCN4c.1590+31G>T (n.1590+31G>T)
c.372+31G>T (n.372+31G>T)
 gnomAD v4
15g.73329544A=CA2187167328HCN4c.1590+29T= (n.1590+29T=)
c.372+29T= (n.372+29T=)
15g.73329544A>GCA715551711HCN4c.1590+29T>C (n.1590+29T>C)
c.372+29T>C (n.372+29T>C)
 dbSNP gnomAD v4
15g.73329544_73329545delinsATCA2187167329HCN4c.1590+28_1590+29delinsAT (n.1590+28_1590+29delinsAT)
c.372+28_372+29delinsAT (n.372+28_372+29delinsAT)
15g.73329545delCA7649269HCN4c.1590+28del (n.1590+28del)
c.372+28del (n.372+28del)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329545T>ACA2187167334HCN4c.1590+28A>T (n.1590+28A>T)
c.372+28A>T (n.372+28A>T)
 dbSNP gnomAD v4
15g.73329545T>CCA272671949HCN4c.1590+28A>G (n.1590+28A>G)
c.372+28A>G (n.372+28A>G)
 dbSNP gnomAD v2 gnomAD v4
15g.73329545T=CA2187167331HCN4c.1590+28A= (n.1590+28A=)
c.372+28A= (n.372+28A=)
15g.73329546G>ACA7649270HCN4c.1590+27C>T (n.1590+27C>T)
c.372+27C>T (n.372+27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329546G=CA2187167339HCN4c.1590+27C= (n.1590+27C=)
c.372+27C= (n.372+27C=)
15g.73329548G>ACA7649271HCN4c.1590+25C>T (n.1590+25C>T)
c.372+25C>T (n.372+25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329548G=CA2187167341HCN4c.1590+25C= (n.1590+25C=)
c.372+25C= (n.372+25C=)
15g.73329549C=CA2187167344HCN4c.1590+24G= (n.1590+24G=)
c.372+24G= (n.372+24G=)
15g.73329549C>GCA715551715HCN4c.1590+24G>C (n.1590+24G>C)
c.372+24G>C (n.372+24G>C)
 dbSNP gnomAD v4
15g.73329549C>TCA7649272HCN4c.1590+24G>A (n.1590+24G>A)
c.372+24G>A (n.372+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329550G>ACA7649273HCN4c.1590+23C>T (n.1590+23C>T)
c.372+23C>T (n.372+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329550G=CA2187167346HCN4c.1590+23C= (n.1590+23C=)
c.372+23C= (n.372+23C=)
15g.73329552delCA2629388578HCN4c.1590+23del (n.1590+23del)
c.372+23del (n.372+23del)
 gnomAD v4
15g.73329551G>CCA2575783934HCN4c.1590+22C>G (n.1590+22C>G)
c.372+22C>G (n.372+22C>G)
 gnomAD v4
15g.73329552G>ACA971406118HCN4c.1590+21C>T (n.1590+21C>T)
c.372+21C>T (n.372+21C>T)
 dbSNP gnomAD v3 gnomAD v4
15g.73329552G=CA2187167348HCN4c.1590+21C= (n.1590+21C=)
c.372+21C= (n.372+21C=)
15g.73329552G>TCA2187167350HCN4c.1590+21C>A (n.1590+21C>A)
c.372+21C>A (n.372+21C>A)
 dbSNP
15g.73329553T>CCA2629388579HCN4c.1590+20A>G (n.1590+20A>G)
c.372+20A>G (n.372+20A>G)
 gnomAD v4
15g.73329554G>ACA7649274HCN4c.1590+19C>T (n.1590+19C>T)
c.372+19C>T (n.372+19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329554G>CCA2730917499HCN4c.1590+19C>G (n.1590+19C>G)
c.372+19C>G (n.372+19C>G)
 dbSNP
15g.73329554G=CA2187167352HCN4c.1590+19C= (n.1590+19C=)
c.372+19C= (n.372+19C=)
15g.73329554G>TCA2629388580HCN4c.1590+19C>A (n.1590+19C>A)
c.372+19C>A (n.372+19C>A)
 gnomAD v4
15g.73329556T>ACA2629388581HCN4c.1590+17A>T (n.1590+17A>T)
c.372+17A>T (n.372+17A>T)
 gnomAD v4
15g.73329558C=CA2187167354HCN4c.1590+15G= (n.1590+15G=)
c.372+15G= (n.372+15G=)
15g.73329558C>TCA971406120HCN4c.1590+15G>A (n.1590+15G>A)
c.372+15G>A (n.372+15G>A)
 dbSNP gnomAD v3 gnomAD v4
15g.73329559C=CA2187167356HCN4c.1590+14G= (n.1590+14G=)
c.372+14G= (n.372+14G=)
15g.73329559C>TCA971406122HCN4c.1590+14G>A (n.1590+14G>A)
c.372+14G>A (n.372+14G>A)
 dbSNP gnomAD v3 gnomAD v4
15g.73329560T=CA2187167357HCN4c.1590+13A= (n.1590+13A=)
c.372+13A= (n.372+13A=)
15g.73329561G>TCA2575783935HCN4c.1590+12C>A (n.1590+12C>A)
c.372+12C>A (n.372+12C>A)
15g.73329563dupCA971406123HCN4c.1590+12dup (n.1590+12dup)
c.372+12dup (n.372+12dup)
 dbSNP gnomAD v3 gnomAD v4
15g.73329562G>ACA7649275HCN4c.1590+11C>T (n.1590+11C>T)
c.372+11C>T (n.372+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329562G>CCA2629388582HCN4c.1590+11C>G (n.1590+11C>G)
c.372+11C>G (n.372+11C>G)
 gnomAD v4
15g.73329562G=CA2187167359HCN4c.1590+11C= (n.1590+11C=)
c.372+11C= (n.372+11C=)
15g.73329563G>ACA971406124HCN4c.1590+10C>T (n.1590+10C>T)
c.372+10C>T (n.372+10C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.73329563G=CA2187167361HCN4c.1590+10C= (n.1590+10C=)
c.372+10C= (n.372+10C=)
15g.73329564T>CCA2629388583HCN4c.1590+9A>G (n.1590+9A>G)
c.372+9A>G (n.372+9A>G)
 ClinVar gnomAD v4
15g.73329565delCA2629388585HCN4c.1590+8del (n.1590+8del)
c.372+8del (n.372+8del)
 gnomAD v4
15g.73329565A>CCA2629388584HCN4c.1590+8T>G (n.1590+8T>G)
c.372+8T>G (n.372+8T>G)
 gnomAD v4
15g.73329566G>ACA2187167364HCN4c.1590+7C>T (n.1590+7C>T)
c.372+7C>T (n.372+7C>T)
 dbSNP
15g.73329566G>CCA915946065HCN4c.1590+7C>G (n.1590+7C>G)
c.372+7C>G (n.372+7C>G)
 ClinVar dbSNP
15g.73329566G=CA2187167363HCN4c.1590+7C= (n.1590+7C=)
c.372+7C= (n.372+7C=)
15g.73329566G>TCA645586814HCN4c.1590+7C>A (n.1590+7C>A)
c.372+7C>A (n.372+7C>A)
 COSMIC
15g.73329567A=CA2187167367HCN4c.1590+6T= (n.1590+6T=)
c.372+6T= (n.372+6T=)
15g.73329567A>GCA2730929831HCN4c.1590+6T>C (n.1590+6T>C)
c.372+6T>C (n.372+6T>C)
 dbSNP
15g.73329567A>TCA272671989HCN4c.1590+6T>A (n.1590+6T>A)
c.372+6T>A (n.372+6T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.73329567_73329568delCA2629388586HCN4c.1590+5_1590+6del (n.1590+5_1590+6del)
c.372+5_372+6del (n.372+5_372+6del)
 gnomAD v4
15g.73329568C>ACA2629388587HCN4c.1590+5G>T (n.1590+5G>T)
c.372+5G>T (n.372+5G>T)
 gnomAD v4
15g.73329569C=CA2187167370HCN4c.1590+4G= (n.1590+4G=)
c.372+4G= (n.372+4G=)
15g.73329569C>TCA619410668HCN4c.1590+4G>A (n.1590+4G>A)
c.372+4G>A (n.372+4G>A)
 dbSNP gnomAD v2 gnomAD v4
15g.73329571A>CCA393093299HCN4c.1590+2T>G (n.1590+2T>G)
c.372+2T>G (n.372+2T>G)
15g.73329571A>GCA393093296HCN4c.1590+2T>C (n.1590+2T>C)
c.372+2T>C (n.372+2T>C)
15g.73329571A>TCA393093294HCN4c.1590+2T>A (n.1590+2T>A)
c.372+2T>A (n.372+2T>A)
15g.73329572C>ACA393093302HCN4c.1590+1G>T (n.1590+1G>T)
c.372+1G>T (n.372+1G>T)
15g.73329572C>GCA393093304HCN4c.1590+1G>C (n.1590+1G>C)
c.372+1G>C (n.372+1G>C)
15g.73329572C>TCA393093306HCN4c.1590+1G>A (n.1590+1G>A)
c.372+1G>A (n.372+1G>A)
 ClinVar
15g.73329573C>ACA393093309HCN4c.1590G>T (p.Lys530Asn)
c.372G>T (p.Lys124Asn)
 dbSNP gnomAD v3 gnomAD v4
15g.73329573C=CA2187167372HCN4c.1590G= (p.Lys530=)
c.372G= (p.Lys124=)
15g.73329573C>GCA393093311HCN4c.1590G>C (p.Lys530Asn)
c.372G>C (p.Lys124Asn)
 ClinVar dbSNP gnomAD v4
15g.73329573C>TCA491151447HCN4c.1590G>A (p.Lys530=)
c.372G>A (p.Lys124=)
15g.73329574T>ACA393093314HCN4c.1589A>T (p.Lys530Met)
c.371A>T (p.Lys124Met)
15g.73329574T>CCA393093316HCN4c.1589A>G (p.Lys530Arg)
c.371A>G (p.Lys124Arg)
15g.73329574T>GCA393093317HCN4c.1589A>C (p.Lys530Thr)
c.371A>C (p.Lys124Thr)
15g.73329575T>ACA393093321HCN4c.1588A>T (p.Lys530Ter)
c.370A>T (p.Lys124Ter)
15g.73329575T>CCA393093322HCN4c.1588A>G (p.Lys530Glu)
c.370A>G (p.Lys124Glu)
 dbSNP gnomAD v4
15g.73329575T>GCA393093324HCN4c.1588A>C (p.Lys530Gln)
c.370A>C (p.Lys124Gln)
15g.73329575T=CA2187167375HCN4c.1588A= (p.Lys530=)
c.370A= (p.Lys124=)
15g.73329576T>ACA393093326HCN4c.1587A>T (p.Glu529Asp)
c.369A>T (p.Glu123Asp)
15g.73329576T>CCA491151448HCN4c.1587A>G (p.Glu529=)
c.369A>G (p.Glu123=)
15g.73329576T>GCA393093328HCN4c.1587A>C (p.Glu529Asp)
c.369A>C (p.Glu123Asp)
15g.73329577T>ACA393093334HCN4c.1586A>T (p.Glu529Val)
c.368A>T (p.Glu123Val)
15g.73329577T>CCA393093330HCN4c.1586A>G (p.Glu529Gly)
c.368A>G (p.Glu123Gly)
15g.73329577T>GCA393093332HCN4c.1586A>C (p.Glu529Ala)
c.368A>C (p.Glu123Ala)
15g.73329578C>ACA393093336HCN4c.1585G>T (p.Glu529Ter)
c.367G>T (p.Glu123Ter)
15g.73329578C>GCA393093337HCN4c.1585G>C (p.Glu529Gln)
c.367G>C (p.Glu123Gln)
15g.73329578C>TCA393093339HCN4c.1585G>A (p.Glu529Lys)
c.367G>A (p.Glu123Lys)
15g.73329579C>ACA393093342HCN4c.1584G>T (p.Gln528His)
c.366G>T (p.Gln122His)
15g.73329579C>GCA393093345HCN4c.1584G>C (p.Gln528His)
c.366G>C (p.Gln122His)
 gnomAD v4
15g.73329579C>TCA491151449HCN4c.1584G>A (p.Gln528=)
c.366G>A (p.Gln122=)
15g.73329579_73329580delinsCTCA2187167378HCN4c.1583_1584delinsAG (p.Gln528=)
c.365_366delinsAG (p.Gln122=)
15g.73329580delCA7649276HCN4c.1583del (p.Gln528ArgfsTer?)
c.365del (p.Gln122ArgfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329580T>ACA393093347HCN4c.1583A>T (p.Gln528Leu)
c.365A>T (p.Gln122Leu)
15g.73329580T>CCA393093348HCN4c.1583A>G (p.Gln528Arg)
c.365A>G (p.Gln122Arg)
 dbSNP gnomAD v2 gnomAD v4
15g.73329580T>GCA393093350HCN4c.1583A>C (p.Gln528Pro)
c.365A>C (p.Gln122Pro)
15g.73329580T=CA2187167381HCN4c.1583A= (p.Gln528=)
c.365A= (p.Gln122=)
15g.73329581G>ACA393093353HCN4c.1582C>T (p.Gln528Ter)
c.364C>T (p.Gln122Ter)
15g.73329581G>CCA393093355HCN4c.1582C>G (p.Gln528Glu)
c.364C>G (p.Gln122Glu)
15g.73329581G>TCA393093357HCN4c.1582C>A (p.Gln528Lys)
c.364C>A (p.Gln122Lys)
15g.73329582G>ACA7649277HCN4c.1581C>T (p.Tyr527=)
c.363C>T (p.Tyr121=)
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.73329582G>CCA393093363HCN4c.1581C>G (p.Tyr527Ter)
c.363C>G (p.Tyr121Ter)
15g.73329582G=CA2187167384HCN4c.1581C= (p.Tyr527=)
c.363C= (p.Tyr121=)
15g.73329582G>TCA393093361HCN4c.1581C>A (p.Tyr527Ter)
c.363C>A (p.Tyr121Ter)
15g.73329583T>ACA393093365HCN4c.1580A>T (p.Tyr527Phe)
c.362A>T (p.Tyr121Phe)
15g.73329583T>CCA393093369HCN4c.1580A>G (p.Tyr527Cys)
c.362A>G (p.Tyr121Cys)
15g.73329583T>GCA393093367HCN4c.1580A>C (p.Tyr527Ser)
c.362A>C (p.Tyr121Ser)
15g.73329584A=CA2187167386HCN4c.1579T= (p.Tyr527=)
c.361T= (p.Tyr121=)
15g.73329584A>CCA393093371HCN4c.1579T>G (p.Tyr527Asp)
c.361T>G (p.Tyr121Asp)
15g.73329584A>GCA393093372HCN4c.1579T>C (p.Tyr527His)
c.361T>C (p.Tyr121His)
 dbSNP
15g.73329584A>TCA393093374HCN4c.1579T>A (p.Tyr527Asn)
c.361T>A (p.Tyr121Asn)
15g.73329585C>ACA393093376HCN4c.1578G>T (p.Gln526His)
c.360G>T (p.Gln120His)
15g.73329585C>GCA393093378HCN4c.1578G>C (p.Gln526His)
c.360G>C (p.Gln120His)
15g.73329585C>TCA491151450HCN4c.1578G>A (p.Gln526=)
c.360G>A (p.Gln120=)
15g.73329586T>ACA393093380HCN4c.1577A>T (p.Gln526Leu)
c.359A>T (p.Gln120Leu)
15g.73329586T>CCA393093382HCN4c.1577A>G (p.Gln526Arg)
c.359A>G (p.Gln120Arg)
 gnomAD v4
15g.73329586T>GCA393093384HCN4c.1577A>C (p.Gln526Pro)
c.359A>C (p.Gln120Pro)
15g.73329587G>ACA393093386HCN4c.1576C>T (p.Gln526Ter)
c.358C>T (p.Gln120Ter)
 COSMIC
15g.73329587G>CCA393093388HCN4c.1576C>G (p.Gln526Glu)
c.358C>G (p.Gln120Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.73329587G=CA2187167389HCN4c.1576C= (p.Gln526=)
c.358C= (p.Gln120=)
15g.73329587G>TCA393093390HCN4c.1576C>A (p.Gln526Lys)
c.358C>A (p.Gln120Lys)
15g.73329588G>ACA491151451HCN4c.1575C>T (p.Arg525=)
c.357C>T (p.Arg119=)
15g.73329588G>CCA491151452HCN4c.1575C>G (p.Arg525=)
c.357C>G (p.Arg119=)
15g.73329588G>TCA491151453HCN4c.1575C>A (p.Arg525=)
c.357C>A (p.Arg119=)
15g.73329589C>ACA393093394HCN4c.1574G>T (p.Arg525Leu)
c.356G>T (p.Arg119Leu)
15g.73329589C=CA2187167392HCN4c.1574G= (p.Arg525=)
c.356G= (p.Arg119=)
15g.73329589C>GCA393093392HCN4c.1574G>C (p.Arg525Pro)
c.356G>C (p.Arg119Pro)
15g.73329589C>TCA7649278HCN4c.1574G>A (p.Arg525His)
c.356G>A (p.Arg119His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.73329590G>ACA393093397HCN4c.1573C>T (p.Arg525Cys)
c.355C>T (p.Arg119Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.73329590G>CCA393093399HCN4c.1573C>G (p.Arg525Gly)
c.355C>G (p.Arg119Gly)
15g.73329590G=CA2187167395HCN4c.1573C= (p.Arg525=)
c.355C= (p.Arg119=)
15g.73329590G>TCA393093401HCN4c.1573C>A (p.Arg525Ser)
c.355C>A (p.Arg119Ser)
 dbSNP gnomAD v2
15g.73329591C>ACA491151454HCN4c.1572G>T (p.Arg524=)
c.354G>T (p.Arg118=)
 ClinVar dbSNP gnomAD v4
15g.73329591C>GCA491151455HCN4c.1572G>C (p.Arg524=)
c.354G>C (p.Arg118=)
15g.73329591C>TCA491151456HCN4c.1572G>A (p.Arg524=)
c.354G>A (p.Arg118=)
15g.73329592C>ACA393093403HCN4c.1571G>T (p.Arg524Leu)
c.353G>T (p.Arg118Leu)
15g.73329592C=CA2187167401HCN4c.1571G= (p.Arg524=)
c.353G= (p.Arg118=)
15g.73329592C>GCA393093405HCN4c.1571G>C (p.Arg524Pro)
c.353G>C (p.Arg118Pro)
15g.73329592C>TCA7649279HCN4c.1571G>A (p.Arg524Gln)
c.353G>A (p.Arg118Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329593G>ACA393093408HCN4c.1570C>T (p.Arg524Trp)
c.352C>T (p.Arg118Trp)
 ClinVar dbSNP gnomAD v4
15g.73329593G>CCA393093410HCN4c.1570C>G (p.Arg524Gly)
c.352C>G (p.Arg118Gly)
15g.73329593G=CA2187167406HCN4c.1570C= (p.Arg524=)
c.352C= (p.Arg118=)
15g.73329593G>TCA7649280HCN4c.1570C>A (p.Arg524=)
c.352C>A (p.Arg118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329594G>ACA491151457HCN4c.1569C>T (p.Ser523=)
c.351C>T (p.Ser117=)
15g.73329594G>CCA491151459HCN4c.1569C>G (p.Ser523=)
c.351C>G (p.Ser117=)
 dbSNP gnomAD v2 gnomAD v4
15g.73329594G=CA2187167410HCN4c.1569C= (p.Ser523=)
c.351C= (p.Ser117=)
15g.73329594G>TCA491151458HCN4c.1569C>A (p.Ser523=)
c.351C>A (p.Ser117=)
15g.73329595G>ACA393093413HCN4c.1568C>T (p.Ser523Phe)
c.350C>T (p.Ser117Phe)
15g.73329595G>CCA393093415HCN4c.1568C>G (p.Ser523Cys)
c.350C>G (p.Ser117Cys)
15g.73329595G>TCA393093416HCN4c.1568C>A (p.Ser523Tyr)
c.350C>A (p.Ser117Tyr)
15g.73329596A>CCA393093422HCN4c.1567T>G (p.Ser523Ala)
c.349T>G (p.Ser117Ala)
15g.73329596A>GCA393093420HCN4c.1567T>C (p.Ser523Pro)
c.349T>C (p.Ser117Pro)
15g.73329596A>TCA393093418HCN4c.1567T>A (p.Ser523Thr)
c.349T>A (p.Ser117Thr)
15g.73329597G>ACA491151460HCN4c.1566C>T (p.Ser522=)
c.348C>T (p.Ser116=)
15g.73329597G>CCA491151461HCN4c.1566C>G (p.Ser522=)
c.348C>G (p.Ser116=)
15g.73329597G>TCA491151462HCN4c.1566C>A (p.Ser522=)
c.348C>A (p.Ser116=)
15g.73329598G>ACA393093428HCN4c.1565C>T (p.Ser522Phe)
c.347C>T (p.Ser116Phe)
 gnomAD v4
15g.73329598G>CCA393093424HCN4c.1565C>G (p.Ser522Cys)
c.347C>G (p.Ser116Cys)
15g.73329598G>TCA393093426HCN4c.1565C>A (p.Ser522Tyr)
c.347C>A (p.Ser116Tyr)
15g.73329599A>CCA393093431HCN4c.1564T>G (p.Ser522Ala)
c.346T>G (p.Ser116Ala)
15g.73329599A>GCA393093433HCN4c.1564T>C (p.Ser522Pro)
c.346T>C (p.Ser116Pro)
15g.73329599A>TCA393093435HCN4c.1564T>A (p.Ser522Thr)
c.346T>A (p.Ser116Thr)
15g.73329600G>ACA7649281HCN4c.1563C>T (p.Asp521=)
c.345C>T (p.Asp115=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329600G>CCA393093439HCN4c.1563C>G (p.Asp521Glu)
c.345C>G (p.Asp115Glu)
15g.73329600G=CA2187167414HCN4c.1563C= (p.Asp521=)
c.345C= (p.Asp115=)
15g.73329600G>TCA393093441HCN4c.1563C>A (p.Asp521Glu)
c.345C>A (p.Asp115Glu)
15g.73329601T>ACA393093442HCN4c.1562A>T (p.Asp521Val)
c.344A>T (p.Asp115Val)
15g.73329601T>CCA393093444HCN4c.1562A>G (p.Asp521Gly)
c.344A>G (p.Asp115Gly)
15g.73329601T>GCA393093447HCN4c.1562A>C (p.Asp521Ala)
c.344A>C (p.Asp115Ala)
15g.73329602C>ACA393093449HCN4c.1561G>T (p.Asp521Tyr)
c.343G>T (p.Asp115Tyr)
15g.73329602C>GCA393093451HCN4c.1561G>C (p.Asp521His)
c.343G>C (p.Asp115His)
15g.73329602C>TCA393093453HCN4c.1561G>A (p.Asp521Asn)
c.343G>A (p.Asp115Asn)
15g.73329603C>ACA491151463HCN4c.1560G>T (p.Leu520=)
c.342G>T (p.Leu114=)
15g.73329603C=CA2187167419HCN4c.1560G= (p.Leu520=)
c.342G= (p.Leu114=)
15g.73329603C>GCA491151464HCN4c.1560G>C (p.Leu520=)
c.342G>C (p.Leu114=)
15g.73329603C>TCA7649282HCN4c.1560G>A (p.Leu520=)
c.342G>A (p.Leu114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329604A>CCA393093456HCN4c.1559T>G (p.Leu520Arg)
c.341T>G (p.Leu114Arg)
15g.73329604A>GCA393093458HCN4c.1559T>C (p.Leu520Pro)
c.341T>C (p.Leu114Pro)
15g.73329604A>TCA393093460HCN4c.1559T>A (p.Leu520Gln)
c.341T>A (p.Leu114Gln)
15g.73329605G>ACA291166HCN4c.1558C>T (p.Leu520=)
c.340C>T (p.Leu114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.73329605G>CCA393093464HCN4c.1558C>G (p.Leu520Val)
c.340C>G (p.Leu114Val)
15g.73329605G=CA2187167423HCN4c.1558C= (p.Leu520=)
c.340C= (p.Leu114=)
15g.73329605G>TCA393093465HCN4c.1558C>A (p.Leu520Met)
c.340C>A (p.Leu114Met)
15g.73329606G>ACA491151465HCN4c.1557C>T (p.Ser519=)
c.339C>T (p.Ser113=)
 ClinVar dbSNP gnomAD v4
15g.73329606G>CCA491151466HCN4c.1557C>G (p.Ser519=)
c.339C>G (p.Ser113=)
15g.73329606G=CA2187167428HCN4c.1557C= (p.Ser519=)
c.339C= (p.Ser113=)
15g.73329606G>TCA491151467HCN4c.1557C>A (p.Ser519=)
c.339C>A (p.Ser113=)
15g.73329607G>ACA393093466HCN4c.1556C>T (p.Ser519Phe)
c.338C>T (p.Ser113Phe)
15g.73329607G>CCA393093467HCN4c.1556C>G (p.Ser519Cys)
c.338C>G (p.Ser113Cys)
 COSMIC
15g.73329607G>TCA393093469HCN4c.1556C>A (p.Ser519Tyr)
c.338C>A (p.Ser113Tyr)
15g.73329608A>CCA393093472HCN4c.1555T>G (p.Ser519Ala)
c.337T>G (p.Ser113Ala)
15g.73329608A>GCA393093473HCN4c.1555T>C (p.Ser519Pro)
c.337T>C (p.Ser113Pro)
15g.73329608A>TCA393093475HCN4c.1555T>A (p.Ser519Thr)
c.337T>A (p.Ser113Thr)
15g.73329609C>ACA393093477HCN4c.1554G>T (p.Gln518His)
c.336G>T (p.Gln112His)
15g.73329609C>GCA393093479HCN4c.1554G>C (p.Gln518His)
c.336G>C (p.Gln112His)
15g.73329609C>TCA491151468HCN4c.1554G>A (p.Gln518=)
c.336G>A (p.Gln112=)
15g.73329610T>ACA393093484HCN4c.1553A>T (p.Gln518Leu)
c.335A>T (p.Gln112Leu)
15g.73329610T>CCA393093486HCN4c.1553A>G (p.Gln518Arg)
c.335A>G (p.Gln112Arg)
 gnomAD v4
15g.73329610T>GCA393093482HCN4c.1553A>C (p.Gln518Pro)
c.335A>C (p.Gln112Pro)
15g.73329611G>ACA393093489HCN4c.1552C>T (p.Gln518Ter)
c.334C>T (p.Gln112Ter)
15g.73329611G>CCA393093492HCN4c.1552C>G (p.Gln518Glu)
c.334C>G (p.Gln112Glu)
15g.73329611G>TCA393093491HCN4c.1552C>A (p.Gln518Lys)
c.334C>A (p.Gln112Lys)
15g.73329612G>ACA491151469HCN4c.1551C>T (p.Ile517=)
c.333C>T (p.Ile111=)
 ClinVar
15g.73329612G>CCA393093495HCN4c.1551C>G (p.Ile517Met)
c.333C>G (p.Ile111Met)
15g.73329612G>TCA491151470HCN4c.1551C>A (p.Ile517=)
c.333C>A (p.Ile111=)
15g.73329613A>CCA393093498HCN4c.1550T>G (p.Ile517Ser)
c.332T>G (p.Ile111Ser)
15g.73329613A>GCA393093500HCN4c.1550T>C (p.Ile517Thr)
c.332T>C (p.Ile111Thr)
15g.73329613A>TCA393093501HCN4c.1550T>A (p.Ile517Asn)
c.332T>A (p.Ile111Asn)
15g.73329614T>ACA393093503HCN4c.1549A>T (p.Ile517Phe)
c.331A>T (p.Ile111Phe)
15g.73329614T>CCA393093505HCN4c.1549A>G (p.Ile517Val)
c.331A>G (p.Ile111Val)
 dbSNP gnomAD v4
15g.73329614T>GCA393093506HCN4c.1549A>C (p.Ile517Leu)
c.331A>C (p.Ile111Leu)
15g.73329614T=CA2187167432HCN4c.1549A= (p.Ile517=)
c.331A= (p.Ile111=)
15g.73329615G>ACA16614561HCN4c.1548C>T (p.Leu516=)
c.330C>T (p.Leu110=)
 ClinVar dbSNP
15g.73329615G>CCA491151472HCN4c.1548C>G (p.Leu516=)
c.330C>G (p.Leu110=)
15g.73329615G=CA2187167435HCN4c.1548C= (p.Leu516=)
c.330C= (p.Leu110=)
15g.73329615G>TCA491151471HCN4c.1548C>A (p.Leu516=)
c.330C>A (p.Leu110=)
15g.73329616A>CCA393093509HCN4c.1547T>G (p.Leu516Arg)
c.329T>G (p.Leu110Arg)
15g.73329616A>GCA393093510HCN4c.1547T>C (p.Leu516Pro)
c.329T>C (p.Leu110Pro)
15g.73329616A>TCA393093512HCN4c.1547T>A (p.Leu516His)
c.329T>A (p.Leu110His)
15g.73329617G>ACA393093514HCN4c.1546C>T (p.Leu516Phe)
c.328C>T (p.Leu110Phe)
 dbSNP gnomAD v2 gnomAD v4
15g.73329617G>CCA393093516HCN4c.1546C>G (p.Leu516Val)
c.328C>G (p.Leu110Val)
15g.73329617G=CA2187167439HCN4c.1546C= (p.Leu516=)
c.328C= (p.Leu110=)
15g.73329617G>TCA393093518HCN4c.1546C>A (p.Leu516Ile)
c.328C>A (p.Leu110Ile)
15g.73329618G>ACA491151473HCN4c.1545C>T (p.Ala515=)
c.327C>T (p.Ala109=)
15g.73329618G>CCA491151474HCN4c.1545C>G (p.Ala515=)
c.327C>G (p.Ala109=)
 dbSNP
15g.73329618G=CA2187167443HCN4c.1545C= (p.Ala515=)
c.327C= (p.Ala109=)
15g.73329618G>TCA491151475HCN4c.1545C>A (p.Ala515=)
c.327C>A (p.Ala109=)
15g.73329619G>ACA393093521HCN4c.1544C>T (p.Ala515Val)
c.326C>T (p.Ala109Val)
15g.73329619G>CCA393093524HCN4c.1544C>G (p.Ala515Gly)
c.326C>G (p.Ala109Gly)
15g.73329619G>TCA393093522HCN4c.1544C>A (p.Ala515Asp)
c.326C>A (p.Ala109Asp)
15g.73329620C>ACA393093527HCN4c.1543G>T (p.Ala515Ser)
c.325G>T (p.Ala109Ser)
15g.73329620C>GCA393093529HCN4c.1543G>C (p.Ala515Pro)
c.325G>C (p.Ala109Pro)
15g.73329620C>TCA393093531HCN4c.1543G>A (p.Ala515Thr)
c.325G>A (p.Ala109Thr)
15g.73329621A>CCA491151476HCN4c.1542T>G (p.Thr514=)
c.324T>G (p.Thr108=)
15g.73329621A>GCA491151478HCN4c.1542T>C (p.Thr514=)
c.324T>C (p.Thr108=)
15g.73329621A>TCA491151477HCN4c.1542T>A (p.Thr514=)
c.324T>A (p.Thr108=)
15g.73329622G>ACA393093533HCN4c.1541C>T (p.Thr514Ile)
c.323C>T (p.Thr108Ile)
15g.73329622G>CCA393093534HCN4c.1541C>G (p.Thr514Ser)
c.323C>G (p.Thr108Ser)
15g.73329622G>TCA393093536HCN4c.1541C>A (p.Thr514Asn)
c.323C>A (p.Thr108Asn)
15g.73329623T>ACA393093538HCN4c.1540A>T (p.Thr514Ser)
c.322A>T (p.Thr108Ser)
15g.73329623T>CCA393093541HCN4c.1540A>G (p.Thr514Ala)
c.322A>G (p.Thr108Ala)
 COSMIC
15g.73329623T>GCA393093543HCN4c.1540A>C (p.Thr514Pro)
c.322A>C (p.Thr108Pro)
15g.73329624G>ACA491151479HCN4c.1539C>T (p.Ala513=)
c.321C>T (p.Ala107=)
15g.73329624G>CCA491151480HCN4c.1539C>G (p.Ala513=)
c.321C>G (p.Ala107=)
15g.73329624G>TCA491151481HCN4c.1539C>A (p.Ala513=)
c.321C>A (p.Ala107=)
15g.73329625G>ACA393093549HCN4c.1538C>T (p.Ala513Val)
c.320C>T (p.Ala107Val)
15g.73329625G>CCA393093547HCN4c.1538C>G (p.Ala513Gly)
c.320C>G (p.Ala107Gly)
15g.73329625G>TCA393093545HCN4c.1538C>A (p.Ala513Asp)
c.320C>A (p.Ala107Asp)
15g.73329626C>ACA393093552HCN4c.1537G>T (p.Ala513Ser)
c.319G>T (p.Ala107Ser)
15g.73329626C=CA2187167446HCN4c.1537G= (p.Ala513=)
c.319G= (p.Ala107=)
15g.73329626C>GCA393093553HCN4c.1537G>C (p.Ala513Pro)
c.319G>C (p.Ala107Pro)
15g.73329626C>TCA393093555HCN4c.1537G>A (p.Ala513Thr)
c.319G>A (p.Ala107Thr)
 dbSNP gnomAD v3 gnomAD v4
15g.73329627G>ACA7649283HCN4c.1536C>T (p.His512=)
c.318C>T (p.His106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.73329627G>CCA393093558HCN4c.1536C>G (p.His512Gln)
c.318C>G (p.His106Gln)
15g.73329627G=CA2187167452HCN4c.1536C= (p.His512=)
c.318C= (p.His106=)
15g.73329627G>TCA393093560HCN4c.1536C>A (p.His512Gln)
c.318C>A (p.His106Gln)
15g.73329628T>ACA393093562HCN4c.1535A>T (p.His512Leu)
c.317A>T (p.His106Leu)
15g.73329628T>CCA393093564HCN4c.1535A>G (p.His512Arg)
c.317A>G (p.His106Arg)
15g.73329628T>GCA393093566HCN4c.1535A>C (p.His512Pro)
c.317A>C (p.His106Pro)
15g.73329629G>ACA393093568HCN4c.1534C>T (p.His512Tyr)
c.316C>T (p.His106Tyr)
15g.73329629G>CCA393093570HCN4c.1534C>G (p.His512Asp)
c.316C>G (p.His106Asp)
15g.73329629G>TCA393093572HCN4c.1534C>A (p.His512Asn)
c.316C>A (p.His106Asn)
15g.73329630G>ACA491151484HCN4c.1533C>T (p.Gly511=)
c.315C>T (p.Gly105=)
 gnomAD v4
15g.73329630G>CCA491151482HCN4c.1533C>G (p.Gly511=)
c.315C>G (p.Gly105=)
15g.73329630G>TCA491151483HCN4c.1533C>A (p.Gly511=)
c.315C>A (p.Gly105=)
 ClinVar dbSNP gnomAD v4
15g.73329631C>ACA393093579HCN4c.1532G>T (p.Gly511Val)
c.314G>T (p.Gly105Val)
15g.73329631C>GCA393093576HCN4c.1532G>C (p.Gly511Ala)
c.314G>C (p.Gly105Ala)
 gnomAD v4
15g.73329631C>TCA393093574HCN4c.1532G>A (p.Gly511Asp)
c.314G>A (p.Gly105Asp)
15g.73329632C>ACA393093581HCN4c.1531G>T (p.Gly511Cys)
c.313G>T (p.Gly105Cys)
15g.73329632C>GCA393093582HCN4c.1531G>C (p.Gly511Arg)
c.313G>C (p.Gly105Arg)
15g.73329632C>TCA393093584HCN4c.1531G>A (p.Gly511Ser)
c.313G>A (p.Gly105Ser)
15g.73329633A>CCA393093586HCN4c.1530T>G (p.Ile510Met)
c.312T>G (p.Ile104Met)
15g.73329633A>GCA491151485HCN4c.1530T>C (p.Ile510=)
c.312T>C (p.Ile104=)
15g.73329633A>TCA491151486HCN4c.1530T>A (p.Ile510=)
c.312T>A (p.Ile104=)
15g.73329634A>CCA393093589HCN4c.1529T>G (p.Ile510Ser)
c.311T>G (p.Ile104Ser)
15g.73329634A>GCA393093591HCN4c.1529T>C (p.Ile510Thr)
c.311T>C (p.Ile104Thr)
15g.73329634A>TCA393093593HCN4c.1529T>A (p.Ile510Asn)
c.311T>A (p.Ile104Asn)
15g.73329635T>ACA393093596HCN4c.1528A>T (p.Ile510Phe)
c.310A>T (p.Ile104Phe)
15g.73329635T>CCA393093598HCN4c.1528A>G (p.Ile510Val)
c.310A>G (p.Ile104Val)
15g.73329635T>GCA393093600HCN4c.1528A>C (p.Ile510Leu)
c.310A>C (p.Ile104Leu)
15g.73329636G>ACA491151487HCN4c.1527C>T (p.Phe509=)
c.309C>T (p.Phe103=)
15g.73329636G>CCA393093602HCN4c.1527C>G (p.Phe509Leu)
c.309C>G (p.Phe103Leu)
15g.73329636G>TCA393093604HCN4c.1527C>A (p.Phe509Leu)
c.309C>A (p.Phe103Leu)
15g.73329637A>CCA393093606HCN4c.1526T>G (p.Phe509Cys)
c.308T>G (p.Phe103Cys)
15g.73329637A>GCA393093610HCN4c.1526T>C (p.Phe509Ser)
c.308T>C (p.Phe103Ser)
15g.73329637A>TCA393093608HCN4c.1526T>A (p.Phe509Tyr)
c.308T>A (p.Phe103Tyr)

Number of alleles fetched