Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.110618444dupCA2695203767PITX2c.432dup (p.Thr145HisfsTer8)
c.557dup (p.Pro187ThrfsTer?)
n.625dup
n.629dup
c.638dup (p.Pro214ThrfsTer?)
n.701dup
c.659dup (p.Pro221ThrfsTer?)
n.590dup
c.500dup (p.Pro168ThrfsTer?)
n.386dup
c.305dup (p.Pro103ThrfsTer?)
4g.110618442G>ACA357983865PITX2c.431C>T (p.Pro144Leu)
c.556C>T (p.Pro186Ser)
n.624C>T
n.628C>T
c.637C>T (p.Pro213Ser)
n.700C>T
c.658C>T (p.Pro220Ser)
n.589C>T
c.499C>T (p.Pro167Ser)
n.385C>T
c.304C>T (p.Pro102Ser)
4g.110618442G>CCA357983867PITX2c.431C>G (p.Pro144Arg)
c.556C>G (p.Pro186Ala)
n.624C>G
n.628C>G
c.637C>G (p.Pro213Ala)
n.700C>G
c.658C>G (p.Pro220Ala)
n.589C>G
c.499C>G (p.Pro167Ala)
n.385C>G
c.304C>G (p.Pro102Ala)
4g.110618442G=CA1485097899PITX2c.431C= (p.Pro144=)
c.556C= (p.Pro186=)
n.624C=
n.628C=
c.637C= (p.Pro213=)
n.700C=
c.658C= (p.Pro220=)
n.589C=
c.499C= (p.Pro167=)
n.385C=
c.304C= (p.Pro102=)
4g.110618442G>TCA357983866PITX2c.431C>A (p.Pro144His)
c.556C>A (p.Pro186Thr)
n.624C>A
n.628C>A
c.637C>A (p.Pro213Thr)
n.700C>A
c.658C>A (p.Pro220Thr)
n.589C>A
c.499C>A (p.Pro167Thr)
n.385C>A
c.304C>A (p.Pro102Thr)
dbSNP
4g.110618443G>ACA357983868PITX2c.430C>T (p.Pro144Ser)
c.555C>T (p.Ser185=)
n.623C>T
n.627C>T
c.636C>T (p.Ser212=)
n.699C>T
c.657C>T (p.Ser219=)
n.588C>T
c.498C>T (p.Ser166=)
n.384C>T
c.303C>T (p.Ser101=)
4g.110618443G>CCA357983870PITX2c.430C>G (p.Pro144Ala)
c.555C>G (p.Ser185=)
n.623C>G
n.627C>G
c.636C>G (p.Ser212=)
n.699C>G
c.657C>G (p.Ser219=)
n.588C>G
c.498C>G (p.Ser166=)
n.384C>G
c.303C>G (p.Ser101=)
4g.110618443G>TCA357983869PITX2c.430C>A (p.Pro144Thr)
c.555C>A (p.Ser185=)
n.623C>A
n.627C>A
c.636C>A (p.Ser212=)
n.699C>A
c.657C>A (p.Ser219=)
n.588C>A
c.498C>A (p.Ser166=)
n.384C>A
c.303C>A (p.Ser101=)
4g.110618444G>ACA357983871PITX2c.429C>T (p.Phe143=)
c.554C>T (p.Ser185Phe)
n.622C>T
n.626C>T
c.635C>T (p.Ser212Phe)
n.698C>T
c.656C>T (p.Ser219Phe)
n.587C>T
c.497C>T (p.Ser166Phe)
n.383C>T
c.302C>T (p.Ser101Phe)
gnomAD v4
4g.110618444G>CCA3045448PITX2c.429C>G (p.Phe143Leu)
c.554C>G (p.Ser185Cys)
n.622C>G
n.626C>G
c.635C>G (p.Ser212Cys)
n.698C>G
c.656C>G (p.Ser219Cys)
n.587C>G
c.497C>G (p.Ser166Cys)
n.383C>G
c.302C>G (p.Ser101Cys)
dbSNP ExAC gnomAD v4
4g.110618444G=CA1485097901PITX2c.429C= (p.Phe143=)
c.554C= (p.Ser185=)
n.622C=
n.626C=
c.635C= (p.Ser212=)
n.698C=
c.656C= (p.Ser219=)
n.587C=
c.497C= (p.Ser166=)
n.383C=
c.302C= (p.Ser101=)
4g.110618444G>TCA357983872PITX2c.429C>A (p.Phe143Leu)
c.554C>A (p.Ser185Tyr)
n.622C>A
n.626C>A
c.635C>A (p.Ser212Tyr)
n.698C>A
c.656C>A (p.Ser219Tyr)
n.587C>A
c.497C>A (p.Ser166Tyr)
n.383C>A
c.302C>A (p.Ser101Tyr)
4g.110618445A>CCA357983873PITX2c.428T>G (p.Phe143Cys)
c.553T>G (p.Ser185Ala)
n.621T>G
n.625T>G
c.634T>G (p.Ser212Ala)
n.697T>G
c.655T>G (p.Ser219Ala)
n.586T>G
c.496T>G (p.Ser166Ala)
n.382T>G
c.301T>G (p.Ser101Ala)
4g.110618445A>GCA357983874PITX2c.428T>C (p.Phe143Ser)
c.553T>C (p.Ser185Pro)
n.621T>C
n.625T>C
c.634T>C (p.Ser212Pro)
n.697T>C
c.655T>C (p.Ser219Pro)
n.586T>C
c.496T>C (p.Ser166Pro)
n.382T>C
c.301T>C (p.Ser101Pro)
4g.110618445A>TCA357983875PITX2c.428T>A (p.Phe143Tyr)
c.553T>A (p.Ser185Thr)
n.621T>A
n.625T>A
c.634T>A (p.Ser212Thr)
n.697T>A
c.655T>A (p.Ser219Thr)
n.586T>A
c.496T>A (p.Ser166Thr)
n.382T>A
c.301T>A (p.Ser101Thr)
4g.110618446A>CCA357983876PITX2c.427T>G (p.Phe143Val)
c.552T>G (p.Phe184Leu)
n.620T>G
n.624T>G
c.633T>G (p.Phe211Leu)
n.696T>G
c.654T>G (p.Phe218Leu)
n.585T>G
c.495T>G (p.Phe165Leu)
n.381T>G
c.300T>G (p.Phe100Leu)
4g.110618446A>GCA357983877PITX2c.427T>C (p.Phe143Leu)
c.552T>C (p.Phe184=)
n.620T>C
n.624T>C
c.633T>C (p.Phe211=)
n.696T>C
c.654T>C (p.Phe218=)
n.585T>C
c.495T>C (p.Phe165=)
n.381T>C
c.300T>C (p.Phe100=)
4g.110618446A>TCA357983878PITX2c.427T>A (p.Phe143Ile)
c.552T>A (p.Phe184Leu)
n.620T>A
n.624T>A
c.633T>A (p.Phe211Leu)
n.696T>A
c.654T>A (p.Phe218Leu)
n.585T>A
c.495T>A (p.Phe165Leu)
n.381T>A
c.300T>A (p.Phe100Leu)
4g.110618447A>CCA357983879PITX2c.426T>G (p.Val142=)
c.551T>G (p.Phe184Cys)
n.619T>G
n.623T>G
c.632T>G (p.Phe211Cys)
n.695T>G
c.653T>G (p.Phe218Cys)
n.584T>G
c.494T>G (p.Phe165Cys)
n.380T>G
c.299T>G (p.Phe100Cys)
4g.110618447A>GCA357983880PITX2c.426T>C (p.Val142=)
c.551T>C (p.Phe184Ser)
n.619T>C
n.623T>C
c.632T>C (p.Phe211Ser)
n.695T>C
c.653T>C (p.Phe218Ser)
n.584T>C
c.494T>C (p.Phe165Ser)
n.380T>C
c.299T>C (p.Phe100Ser)
4g.110618447A>TCA357983881PITX2c.426T>A (p.Val142=)
c.551T>A (p.Phe184Tyr)
n.619T>A
n.623T>A
c.632T>A (p.Phe211Tyr)
n.695T>A
c.653T>A (p.Phe218Tyr)
n.584T>A
c.494T>A (p.Phe165Tyr)
n.380T>A
c.299T>A (p.Phe100Tyr)
4g.110618448A>CCA357983882PITX2c.425T>G (p.Val142Gly)
c.550T>G (p.Phe184Val)
n.618T>G
n.622T>G
c.631T>G (p.Phe211Val)
n.694T>G
c.652T>G (p.Phe218Val)
n.583T>G
c.493T>G (p.Phe165Val)
n.379T>G
c.298T>G (p.Phe100Val)
4g.110618448A>GCA357983883PITX2c.425T>C (p.Val142Ala)
c.550T>C (p.Phe184Leu)
n.618T>C
n.622T>C
c.631T>C (p.Phe211Leu)
n.694T>C
c.652T>C (p.Phe218Leu)
n.583T>C
c.493T>C (p.Phe165Leu)
n.379T>C
c.298T>C (p.Phe100Leu)
4g.110618448A>TCA357983884PITX2c.425T>A (p.Val142Asp)
c.550T>A (p.Phe184Ile)
n.618T>A
n.622T>A
c.631T>A (p.Phe211Ile)
n.694T>A
c.652T>A (p.Phe218Ile)
n.583T>A
c.493T>A (p.Phe165Ile)
n.379T>A
c.298T>A (p.Phe100Ile)
4g.110618449C>ACA357983885PITX2c.424G>T (p.Val142Phe)
c.549G>T (p.Met183Ile)
n.617G>T
n.621G>T
c.630G>T (p.Met210Ile)
n.693G>T
c.651G>T (p.Met217Ile)
n.582G>T
c.492G>T (p.Met164Ile)
n.378G>T
c.297G>T (p.Met99Ile)
4g.110618449C=CA1485097907PITX2c.424G= (p.Val142=)
c.549G= (p.Met183=)
n.617G=
n.621G=
c.630G= (p.Met210=)
n.693G=
c.651G= (p.Met217=)
n.582G=
c.492G= (p.Met164=)
n.378G=
c.297G= (p.Met99=)
4g.110618449C>GCA3045449PITX2c.424G>C (p.Val142Leu)
c.549G>C (p.Met183Ile)
n.617G>C
n.621G>C
c.630G>C (p.Met210Ile)
n.693G>C
c.651G>C (p.Met217Ile)
n.582G>C
c.492G>C (p.Met164Ile)
n.378G>C
c.297G>C (p.Met99Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.110618449C>TCA357983886PITX2c.424G>A (p.Val142Ile)
c.549G>A (p.Met183Ile)
n.617G>A
n.621G>A
c.630G>A (p.Met210Ile)
n.693G>A
c.651G>A (p.Met217Ile)
n.582G>A
c.492G>A (p.Met164Ile)
n.378G>A
c.297G>A (p.Met99Ile)
4g.110618450A>CCA357983887PITX2c.423T>G (p.His141Gln)
c.548T>G (p.Met183Arg)
n.616T>G
n.620T>G
c.629T>G (p.Met210Arg)
n.692T>G
c.650T>G (p.Met217Arg)
n.581T>G
c.491T>G (p.Met164Arg)
n.377T>G
c.296T>G (p.Met99Arg)
4g.110618450A>GCA357983888PITX2c.423T>C (p.His141=)
c.548T>C (p.Met183Thr)
n.616T>C
n.620T>C
c.629T>C (p.Met210Thr)
n.692T>C
c.650T>C (p.Met217Thr)
n.581T>C
c.491T>C (p.Met164Thr)
n.377T>C
c.296T>C (p.Met99Thr)
4g.110618450A>TCA357983889PITX2c.423T>A (p.His141Gln)
c.548T>A (p.Met183Lys)
n.616T>A
n.620T>A
c.629T>A (p.Met210Lys)
n.692T>A
c.650T>A (p.Met217Lys)
n.581T>A
c.491T>A (p.Met164Lys)
n.377T>A
c.296T>A (p.Met99Lys)
4g.110618451T>ACA357983890PITX2c.422A>T (p.His141Leu)
c.547A>T (p.Met183Leu)
n.615A>T
n.619A>T
c.628A>T (p.Met210Leu)
n.691A>T
c.649A>T (p.Met217Leu)
n.580A>T
c.490A>T (p.Met164Leu)
n.376A>T
c.295A>T (p.Met99Leu)
4g.110618451T>CCA357983891PITX2c.422A>G (p.His141Arg)
c.547A>G (p.Met183Val)
n.615A>G
n.619A>G
c.628A>G (p.Met210Val)
n.691A>G
c.649A>G (p.Met217Val)
n.580A>G
c.490A>G (p.Met164Val)
n.376A>G
c.295A>G (p.Met99Val)
gnomAD v4
4g.110618451T>GCA357983892PITX2c.422A>C (p.His141Pro)
c.547A>C (p.Met183Leu)
n.615A>C
n.619A>C
c.628A>C (p.Met210Leu)
n.691A>C
c.649A>C (p.Met217Leu)
n.580A>C
c.490A>C (p.Met164Leu)
n.376A>C
c.295A>C (p.Met99Leu)
4g.110618452G>ACA357983893PITX2c.421C>T (p.His141Tyr)
c.546C>T (p.Ser182=)
n.614C>T
n.618C>T
c.627C>T (p.Ser209=)
n.690C>T
c.648C>T (p.Ser216=)
n.579C>T
c.489C>T (p.Ser163=)
n.375C>T
c.294C>T (p.Ser98=)
4g.110618452G>CCA357983894PITX2c.421C>G (p.His141Asp)
c.546C>G (p.Ser182Arg)
n.614C>G
n.618C>G
c.627C>G (p.Ser209Arg)
n.690C>G
c.648C>G (p.Ser216Arg)
n.579C>G
c.489C>G (p.Ser163Arg)
n.375C>G
c.294C>G (p.Ser98Arg)
dbSNP gnomAD v4
4g.110618452G>TCA357983895PITX2c.421C>A (p.His141Asn)
c.546C>A (p.Ser182Arg)
n.614C>A
n.618C>A
c.627C>A (p.Ser209Arg)
n.690C>A
c.648C>A (p.Ser216Arg)
n.579C>A
c.489C>A (p.Ser163Arg)
n.375C>A
c.294C>A (p.Ser98Arg)
4g.110618453C>ACA357983898PITX2c.420G>T (p.Glu140Asp)
c.545G>T (p.Ser182Ile)
n.613G>T
n.617G>T
c.626G>T (p.Ser209Ile)
n.689G>T
c.647G>T (p.Ser216Ile)
n.578G>T
c.488G>T (p.Ser163Ile)
n.374G>T
c.293G>T (p.Ser98Ile)
4g.110618453C>GCA357983897PITX2c.420G>C (p.Glu140Asp)
c.545G>C (p.Ser182Thr)
n.613G>C
n.617G>C
c.626G>C (p.Ser209Thr)
n.689G>C
c.647G>C (p.Ser216Thr)
n.578G>C
c.488G>C (p.Ser163Thr)
n.374G>C
c.293G>C (p.Ser98Thr)
4g.110618453C>TCA357983896PITX2c.420G>A (p.Glu140=)
c.545G>A (p.Ser182Asn)
n.613G>A
n.617G>A
c.626G>A (p.Ser209Asn)
n.689G>A
c.647G>A (p.Ser216Asn)
n.578G>A
c.488G>A (p.Ser163Asn)
n.374G>A
c.293G>A (p.Ser98Asn)
4g.110618455_110618456delCA2695203768PITX2c.419_420del (p.Glu140AlafsTer12)
c.544_545del (p.Ser182HisfsTer?)
n.612_613del
n.616_617del
c.625_626del (p.Ser209HisfsTer?)
n.688_689del
c.646_647del (p.Ser216HisfsTer?)
n.577_578del
c.487_488del (p.Ser163HisfsTer?)
n.373_374del
c.292_293del (p.Ser98HisfsTer?)
4g.110618454T>ACA357983899PITX2c.419A>T (p.Glu140Val)
c.544A>T (p.Ser182Cys)
n.612A>T
n.616A>T
c.625A>T (p.Ser209Cys)
n.688A>T
c.646A>T (p.Ser216Cys)
n.577A>T
c.487A>T (p.Ser163Cys)
n.373A>T
c.292A>T (p.Ser98Cys)
4g.110618454T>CCA357983900PITX2c.419A>G (p.Glu140Gly)
c.544A>G (p.Ser182Gly)
n.612A>G
n.616A>G
c.625A>G (p.Ser209Gly)
n.688A>G
c.646A>G (p.Ser216Gly)
n.577A>G
c.487A>G (p.Ser163Gly)
n.373A>G
c.292A>G (p.Ser98Gly)
4g.110618454T>GCA357983901PITX2c.419A>C (p.Glu140Ala)
c.544A>C (p.Ser182Arg)
n.612A>C
n.616A>C
c.625A>C (p.Ser209Arg)
n.688A>C
c.646A>C (p.Ser216Arg)
n.577A>C
c.487A>C (p.Ser163Arg)
n.373A>C
c.292A>C (p.Ser98Arg)
4g.110618455C>ACA357983902PITX2c.418G>T (p.Glu140Ter)
c.543G>T (p.Gln181His)
n.611G>T
n.615G>T
c.624G>T (p.Gln208His)
n.687G>T
c.645G>T (p.Gln215His)
n.576G>T
c.486G>T (p.Gln162His)
n.372G>T
c.291G>T (p.Gln97His)
4g.110618455C>GCA357983903PITX2c.418G>C (p.Glu140Gln)
c.543G>C (p.Gln181His)
n.611G>C
n.615G>C
c.624G>C (p.Gln208His)
n.687G>C
c.645G>C (p.Gln215His)
n.576G>C
c.486G>C (p.Gln162His)
n.372G>C
c.291G>C (p.Gln97His)
4g.110618455C>TCA357983904PITX2c.418G>A (p.Glu140Lys)
c.543G>A (p.Gln181=)
n.611G>A
n.615G>A
c.624G>A (p.Gln208=)
n.687G>A
c.645G>A (p.Gln215=)
n.576G>A
c.486G>A (p.Gln162=)
n.372G>A
c.291G>A (p.Gln97=)
4g.110618456T>ACA357983905PITX2c.417A>T (p.Thr139=)
c.542A>T (p.Gln181Leu)
n.610A>T
n.614A>T
c.623A>T (p.Gln208Leu)
n.686A>T
c.644A>T (p.Gln215Leu)
n.575A>T
c.485A>T (p.Gln162Leu)
n.371A>T
c.290A>T (p.Gln97Leu)
4g.110618456T>CCA357983906PITX2c.417A>G (p.Thr139=)
c.542A>G (p.Gln181Arg)
n.610A>G
n.614A>G
c.623A>G (p.Gln208Arg)
n.686A>G
c.644A>G (p.Gln215Arg)
n.575A>G
c.485A>G (p.Gln162Arg)
n.371A>G
c.290A>G (p.Gln97Arg)
4g.110618456T>GCA357983907PITX2c.417A>C (p.Thr139=)
c.542A>C (p.Gln181Pro)
n.610A>C
n.614A>C
c.623A>C (p.Gln208Pro)
n.686A>C
c.644A>C (p.Gln215Pro)
n.575A>C
c.485A>C (p.Gln162Pro)
n.371A>C
c.290A>C (p.Gln97Pro)

Number of alleles fetched