Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.110618444dup | CA2695203767 | PITX2 | c.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?) | |
4 | g.110618443G>A | CA357983868 | PITX2 | c.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=) | |
4 | g.110618443G>C | CA357983870 | PITX2 | c.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=) | |
4 | g.110618443G>T | CA357983869 | PITX2 | c.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=) | |
4 | g.110618444G>A | CA357983871 | PITX2 | c.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 |
4 | g.110618444G>C | CA3045448 | PITX2 | c.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 |
4 | g.110618444G= | CA1485097901 | PITX2 | c.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=) | |
4 | g.110618444G>T | CA357983872 | PITX2 | c.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) | |
4 | g.110618445A>C | CA357983873 | PITX2 | c.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) | |
4 | g.110618445A>G | CA357983874 | PITX2 | c.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) | |
4 | g.110618445A>T | CA357983875 | PITX2 | c.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) | |
4 | g.110618446A>C | CA357983876 | PITX2 | c.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) | |
4 | g.110618446A>G | CA357983877 | PITX2 | c.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=) | |
4 | g.110618446A>T | CA357983878 | PITX2 | c.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) | |
4 | g.110618447A>C | CA357983879 | PITX2 | c.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) | |
4 | g.110618447A>G | CA357983880 | PITX2 | c.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) | |
4 | g.110618447A>T | CA357983881 | PITX2 | c.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) | |
4 | g.110618448A>C | CA357983882 | PITX2 | c.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) | |
4 | g.110618448A>G | CA357983883 | PITX2 | c.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) | |
4 | g.110618448A>T | CA357983884 | PITX2 | c.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) | |
4 | g.110618449C>A | CA357983885 | PITX2 | c.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) | |
4 | g.110618449C= | CA1485097907 | PITX2 | c.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=) | |
4 | g.110618449C>G | CA3045449 | PITX2 | c.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 |
4 | g.110618449C>T | CA357983886 | PITX2 | c.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) | |
4 | g.110618450A>C | CA357983887 | PITX2 | c.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) | |
4 | g.110618450A>G | CA357983888 | PITX2 | c.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) | |
4 | g.110618450A>T | CA357983889 | PITX2 | c.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) | |
4 | g.110618451T>A | CA357983890 | PITX2 | c.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) | |
4 | g.110618451T>C | CA357983891 | PITX2 | c.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 |
4 | g.110618451T>G | CA357983892 | PITX2 | c.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) | |
4 | g.110618452G>A | CA357983893 | PITX2 | c.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=) | |
4 | g.110618452G>C | CA357983894 | PITX2 | c.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 |
4 | g.110618452G>T | CA357983895 | PITX2 | c.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) | |
4 | g.110618453C>A | CA357983898 | PITX2 | c.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) | |
4 | g.110618453C>G | CA357983897 | PITX2 | c.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) | |
4 | g.110618453C>T | CA357983896 | PITX2 | c.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) | |
4 | g.110618455_110618456del | CA2695203768 | PITX2 | c.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?) | |
4 | g.110618454T>A | CA357983899 | PITX2 | c.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) | |
4 | g.110618454T>C | CA357983900 | PITX2 | c.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) | |
4 | g.110618454T>G | CA357983901 | PITX2 | c.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) | |
4 | g.110618455C>A | CA357983902 | PITX2 | c.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) | |
4 | g.110618455C>G | CA357983903 | PITX2 | c.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) | |
4 | g.110618455C>T | CA357983904 | PITX2 | c.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=) | |
4 | g.110618456T>A | CA357983905 | PITX2 | c.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) | |
4 | g.110618456T>C | CA357983906 | PITX2 | c.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) | |
4 | g.110618456T>G | CA357983907 | PITX2 | c.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) | |
4 | g.110618457G>A | CA357983908 | PITX2 | c.416C>T (p.Thr139Ile) c.541C>T (p.Gln181Ter) n.609C>T n.613C>T c.622C>T (p.Gln208Ter) n.685C>T c.643C>T (p.Gln215Ter) n.574C>T c.484C>T (p.Gln162Ter) n.370C>T c.289C>T (p.Gln97Ter) | |
4 | g.110618457G>C | CA357983909 | PITX2 | c.416C>G (p.Thr139Arg) c.541C>G (p.Gln181Glu) n.609C>G n.613C>G c.622C>G (p.Gln208Glu) n.685C>G c.643C>G (p.Gln215Glu) n.574C>G c.484C>G (p.Gln162Glu) n.370C>G c.289C>G (p.Gln97Glu) | |
4 | g.110618457G>T | CA357983910 | PITX2 | c.416C>A (p.Thr139Lys) c.541C>A (p.Gln181Lys) n.609C>A n.613C>A c.622C>A (p.Gln208Lys) n.685C>A c.643C>A (p.Gln215Lys) n.574C>A c.484C>A (p.Gln162Lys) n.370C>A c.289C>A (p.Gln97Lys) | |
4 | g.110618458T>A | CA357983913 | PITX2 | c.415A>T (p.Thr139Ser) c.540A>T (p.Ser180=) n.608A>T n.612A>T c.621A>T (p.Ser207=) n.684A>T c.642A>T (p.Ser214=) n.573A>T c.483A>T (p.Ser161=) n.369A>T c.288A>T (p.Ser96=) |