UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 4 | g.110618458T>C | CA357983911 | PITX2 | c.415A>G (p.Thr139Ala) c.540A>G (p.Ser180=) n.608A>G n.612A>G c.621A>G (p.Ser207=) n.684A>G c.642A>G (p.Ser214=) n.573A>G c.483A>G (p.Ser161=) n.369A>G c.288A>G (p.Ser96=) | |
| 4 | g.110618458T>G | CA357983912 | PITX2 | c.415A>C (p.Thr139Pro) c.540A>C (p.Ser180=) n.608A>C n.612A>C c.621A>C (p.Ser207=) n.684A>C c.642A>C (p.Ser214=) n.573A>C c.483A>C (p.Ser161=) n.369A>C c.288A>C (p.Ser96=) | |
| 4 | g.110618459G>A | CA357983914 | PITX2 | c.414C>T (p.Ile138=) c.539C>T (p.Ser180Leu) n.607C>T n.611C>T c.620C>T (p.Ser207Leu) n.683C>T c.641C>T (p.Ser214Leu) n.572C>T c.482C>T (p.Ser161Leu) n.368C>T c.287C>T (p.Ser96Leu) | |
| 4 | g.110618459G>C | CA357983915 | PITX2 | c.414C>G (p.Ile138Met) c.539C>G (p.Ser180Ter) n.607C>G n.611C>G c.620C>G (p.Ser207Ter) n.683C>G c.641C>G (p.Ser214Ter) n.572C>G c.482C>G (p.Ser161Ter) n.368C>G c.287C>G (p.Ser96Ter) | |
| 4 | g.110618459G>T | CA357983916 | PITX2 | c.414C>A (p.Ile138=) c.539C>A (p.Ser180Ter) n.607C>A n.611C>A c.620C>A (p.Ser207Ter) n.683C>A c.641C>A (p.Ser214Ter) n.572C>A c.482C>A (p.Ser161Ter) n.368C>A c.287C>A (p.Ser96Ter) | |
| 4 | g.110618460A>C | CA357983917 | PITX2 | c.413T>G (p.Ile138Ser) c.538T>G (p.Ser180Ala) n.606T>G n.610T>G c.619T>G (p.Ser207Ala) n.682T>G c.640T>G (p.Ser214Ala) n.571T>G c.481T>G (p.Ser161Ala) n.367T>G c.286T>G (p.Ser96Ala) | |
| 4 | g.110618460A>G | CA357983918 | PITX2 | c.413T>C (p.Ile138Thr) c.538T>C (p.Ser180Pro) n.606T>C n.610T>C c.619T>C (p.Ser207Pro) n.682T>C c.640T>C (p.Ser214Pro) n.571T>C c.481T>C (p.Ser161Pro) n.367T>C c.286T>C (p.Ser96Pro) | |
| 4 | g.110618460A>T | CA357983919 | PITX2 | c.413T>A (p.Ile138Asn) c.538T>A (p.Ser180Thr) n.606T>A n.610T>A c.619T>A (p.Ser207Thr) n.682T>A c.640T>A (p.Ser214Thr) n.571T>A c.481T>A (p.Ser161Thr) n.367T>A c.286T>A (p.Ser96Thr) | |
| 4 | g.110618461T>A | CA3045450 | PITX2 | c.412A>T (p.Ile138Phe) c.537A>T (p.Ser179=) n.605A>T n.609A>T c.618A>T (p.Ser206=) n.681A>T c.639A>T (p.Ser213=) n.570A>T c.480A>T (p.Ser160=) n.366A>T c.285A>T (p.Ser95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618461T>C | CA357983920 | PITX2 | c.412A>G (p.Ile138Val) c.537A>G (p.Ser179=) n.605A>G n.609A>G c.618A>G (p.Ser206=) n.681A>G c.639A>G (p.Ser213=) n.570A>G c.480A>G (p.Ser160=) n.366A>G c.285A>G (p.Ser95=) | COSMIC COSMIC |
| 4 | g.110618461T>G | CA357983921 | PITX2 | c.412A>C (p.Ile138Leu) c.537A>C (p.Ser179=) n.605A>C n.609A>C c.618A>C (p.Ser206=) n.681A>C c.639A>C (p.Ser213=) n.570A>C c.480A>C (p.Ser160=) n.366A>C c.285A>C (p.Ser95=) | |
| 4 | g.110618461T= | CA1485097911 | PITX2 | c.412A= (p.Ile138=) c.537A= (p.Ser179=) n.605A= n.609A= c.618A= (p.Ser206=) n.681A= c.639A= (p.Ser213=) n.570A= c.480A= (p.Ser160=) n.366A= c.285A= (p.Ser95=) | |
| 4 | g.110618462G>A | CA357983922 | PITX2 | c.411C>T (p.Val137=) c.536C>T (p.Ser179Leu) n.604C>T n.608C>T c.617C>T (p.Ser206Leu) n.680C>T c.638C>T (p.Ser213Leu) n.569C>T c.479C>T (p.Ser160Leu) n.365C>T c.284C>T (p.Ser95Leu) | |
| 4 | g.110618462G>C | CA357983923 | PITX2 | c.411C>G (p.Val137=) c.536C>G (p.Ser179Ter) n.604C>G n.608C>G c.617C>G (p.Ser206Ter) n.680C>G c.638C>G (p.Ser213Ter) n.569C>G c.479C>G (p.Ser160Ter) n.365C>G c.284C>G (p.Ser95Ter) | |
| 4 | g.110618462G>T | CA357983924 | PITX2 | c.411C>A (p.Val137=) c.536C>A (p.Ser179Ter) n.604C>A n.608C>A c.617C>A (p.Ser206Ter) n.680C>A c.638C>A (p.Ser213Ter) n.569C>A c.479C>A (p.Ser160Ter) n.365C>A c.284C>A (p.Ser95Ter) | |
| 4 | g.110618463A>C | CA357983926 | PITX2 | c.410T>G (p.Val137Gly) c.535T>G (p.Ser179Ala) n.603T>G n.607T>G c.616T>G (p.Ser206Ala) n.679T>G c.637T>G (p.Ser213Ala) n.568T>G c.478T>G (p.Ser160Ala) n.364T>G c.283T>G (p.Ser95Ala) | |
| 4 | g.110618463A>G | CA357983927 | PITX2 | c.410T>C (p.Val137Ala) c.535T>C (p.Ser179Pro) n.603T>C n.607T>C c.616T>C (p.Ser206Pro) n.679T>C c.637T>C (p.Ser213Pro) n.568T>C c.478T>C (p.Ser160Pro) n.364T>C c.283T>C (p.Ser95Pro) | COSMIC COSMIC |
| 4 | g.110618463A>T | CA357983925 | PITX2 | c.410T>A (p.Val137Asp) c.535T>A (p.Ser179Thr) n.603T>A n.607T>A c.616T>A (p.Ser206Thr) n.679T>A c.637T>A (p.Ser213Thr) n.568T>A c.478T>A (p.Ser160Thr) n.364T>A c.283T>A (p.Ser95Thr) | gnomAD v4 |
| 4 | g.110618464C>A | CA357983928 | PITX2 | c.409G>T (p.Val137Phe) c.534G>T (p.Leu178=) n.602G>T n.606G>T c.615G>T (p.Leu205=) n.678G>T c.636G>T (p.Leu212=) n.567G>T c.477G>T (p.Leu159=) n.363G>T c.282G>T (p.Leu94=) | |
| 4 | g.110618464C= | CA1485097919 | PITX2 | c.409G= (p.Val137=) c.534G= (p.Leu178=) n.602G= n.606G= c.615G= (p.Leu205=) n.678G= c.636G= (p.Leu212=) n.567G= c.477G= (p.Leu159=) n.363G= c.282G= (p.Leu94=) | |
| 4 | g.110618464C>G | CA357983929 | PITX2 | c.409G>C (p.Val137Leu) c.534G>C (p.Leu178=) n.602G>C n.606G>C c.615G>C (p.Leu205=) n.678G>C c.636G>C (p.Leu212=) n.567G>C c.477G>C (p.Leu159=) n.363G>C c.282G>C (p.Leu94=) | |
| 4 | g.110618464C>T | CA357983930 | PITX2 | c.409G>A (p.Val137Ile) c.534G>A (p.Leu178=) n.602G>A n.606G>A c.615G>A (p.Leu205=) n.678G>A c.636G>A (p.Leu212=) n.567G>A c.477G>A (p.Leu159=) n.363G>A c.282G>A (p.Leu94=) | dbSNP gnomAD v4 |
| 4 | g.110618465A= | CA1485097921 | PITX2 | c.408T= (p.Pro136=) c.533T= (p.Leu178=) n.601T= n.605T= c.614T= (p.Leu205=) n.677T= c.635T= (p.Leu212=) n.566T= c.476T= (p.Leu159=) n.941T= n.362T= c.281T= (p.Leu94=) | |
| 4 | g.110618465A>C | CA357983931 | PITX2 | c.408T>G (p.Pro136=) c.533T>G (p.Leu178Arg) n.601T>G n.605T>G c.614T>G (p.Leu205Arg) n.677T>G c.635T>G (p.Leu212Arg) n.566T>G c.476T>G (p.Leu159Arg) n.941T>G n.362T>G c.281T>G (p.Leu94Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618465A>G | CA357983932 | PITX2 | c.408T>C (p.Pro136=) c.533T>C (p.Leu178Pro) n.601T>C n.605T>C c.614T>C (p.Leu205Pro) n.677T>C c.635T>C (p.Leu212Pro) n.566T>C c.476T>C (p.Leu159Pro) n.941T>C n.362T>C c.281T>C (p.Leu94Pro) | |
| 4 | g.110618465A>T | CA357983933 | PITX2 | c.408T>A (p.Pro136=) c.533T>A (p.Leu178Gln) n.601T>A n.605T>A c.614T>A (p.Leu205Gln) n.677T>A c.635T>A (p.Leu212Gln) n.566T>A c.476T>A (p.Leu159Gln) n.941T>A n.362T>A c.281T>A (p.Leu94Gln) | |
| 4 | g.110618465_110618466del | CA2695203769 | PITX2 | c.407_408del (p.Pro136ArgfsTer16) c.532_533del (p.Leu178ValfsTer?) n.600_601del n.604_605del c.613_614del (p.Leu205ValfsTer?) n.676_677del c.634_635del (p.Leu212ValfsTer?) n.565_566del c.475_476del (p.Leu159ValfsTer?) n.940_941del n.361_362del c.280_281del (p.Leu94ValfsTer?) | |
| 4 | g.110618466G>A | CA3045451 | PITX2 | c.407C>T (p.Pro136Leu) c.532C>T (p.Leu178=) n.600C>T n.604C>T c.613C>T (p.Leu205=) n.676C>T c.634C>T (p.Leu212=) n.565C>T c.475C>T (p.Leu159=) n.940C>T n.361C>T c.280C>T (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618466G>C | CA357983934 | PITX2 | c.407C>G (p.Pro136Arg) c.532C>G (p.Leu178Val) n.600C>G n.604C>G c.613C>G (p.Leu205Val) n.676C>G c.634C>G (p.Leu212Val) n.565C>G c.475C>G (p.Leu159Val) n.940C>G n.361C>G c.280C>G (p.Leu94Val) | |
| 4 | g.110618466G= | CA1485097925 | PITX2 | c.407C= (p.Pro136=) c.532C= (p.Leu178=) n.600C= n.604C= c.613C= (p.Leu205=) n.676C= c.634C= (p.Leu212=) n.565C= c.475C= (p.Leu159=) n.940C= n.361C= c.280C= (p.Leu94=) | |
| 4 | g.110618466G>T | CA357983935 | PITX2 | c.407C>A (p.Pro136His) c.532C>A (p.Leu178Met) n.600C>A n.604C>A c.613C>A (p.Leu205Met) n.676C>A c.634C>A (p.Leu212Met) n.565C>A c.475C>A (p.Leu159Met) n.940C>A n.361C>A c.280C>A (p.Leu94Met) | |
| 4 | g.110618470del | CA645523510 | PITX2 | c.407del (p.Pro136LeufsTer?) c.532del (p.Leu178CysfsTer16) n.600del n.604del c.613del (p.Leu205CysfsTer16) n.676del c.634del (p.Leu212CysfsTer16) n.565del c.475del (p.Leu159CysfsTer16) n.940del n.361del c.280del (p.Leu94CysfsTer16) | COSMIC COSMIC |
| 4 | g.110618467G>A | CA357983936 | PITX2 | c.406C>T (p.Pro136Ser) c.531C>T (p.Pro177=) n.599C>T n.603C>T c.612C>T (p.Pro204=) n.675C>T c.633C>T (p.Pro211=) n.564C>T c.474C>T (p.Pro158=) n.939C>T n.360C>T c.279C>T (p.Pro93=) | ClinVar gnomAD v4 |
| 4 | g.110618467G>C | CA357983937 | PITX2 | c.406C>G (p.Pro136Ala) c.531C>G (p.Pro177=) n.599C>G n.603C>G c.612C>G (p.Pro204=) n.675C>G c.633C>G (p.Pro211=) n.564C>G c.474C>G (p.Pro158=) n.939C>G n.360C>G c.279C>G (p.Pro93=) | gnomAD v4 |
| 4 | g.110618467G>T | CA357983938 | PITX2 | c.406C>A (p.Pro136Thr) c.531C>A (p.Pro177=) n.599C>A n.603C>A c.612C>A (p.Pro204=) n.675C>A c.633C>A (p.Pro211=) n.564C>A c.474C>A (p.Pro158=) n.939C>A n.360C>A c.279C>A (p.Pro93=) | |
| 4 | g.110618468G>A | CA357983939 | PITX2 | c.405C>T (p.Pro135=) c.530C>T (p.Pro177Leu) n.598C>T n.602C>T c.611C>T (p.Pro204Leu) n.674C>T c.632C>T (p.Pro211Leu) n.563C>T c.473C>T (p.Pro158Leu) n.938C>T n.359C>T c.278C>T (p.Pro93Leu) | |
| 4 | g.110618468G>C | CA357983940 | PITX2 | c.405C>G (p.Pro135=) c.530C>G (p.Pro177Arg) n.598C>G n.602C>G c.611C>G (p.Pro204Arg) n.674C>G c.632C>G (p.Pro211Arg) n.563C>G c.473C>G (p.Pro158Arg) n.938C>G n.359C>G c.278C>G (p.Pro93Arg) | |
| 4 | g.110618468G>T | CA357983941 | PITX2 | c.405C>A (p.Pro135=) c.530C>A (p.Pro177His) n.598C>A n.602C>A c.611C>A (p.Pro204His) n.674C>A c.632C>A (p.Pro211His) n.563C>A c.473C>A (p.Pro158His) n.938C>A n.359C>A c.278C>A (p.Pro93His) | |
| 4 | g.110618469G>A | CA357983942 | PITX2 | c.404C>T (p.Pro135Leu) c.529C>T (p.Pro177Ser) n.597C>T n.601C>T c.610C>T (p.Pro204Ser) n.673C>T c.631C>T (p.Pro211Ser) n.562C>T c.472C>T (p.Pro158Ser) n.937C>T n.358C>T c.277C>T (p.Pro93Ser) | |
| 4 | g.110618469G>C | CA357983943 | PITX2 | c.404C>G (p.Pro135Arg) c.529C>G (p.Pro177Ala) n.597C>G n.601C>G c.610C>G (p.Pro204Ala) n.673C>G c.631C>G (p.Pro211Ala) n.562C>G c.472C>G (p.Pro158Ala) n.937C>G n.358C>G c.277C>G (p.Pro93Ala) | |
| 4 | g.110618469G= | CA1485097929 | PITX2 | c.404C= (p.Pro135=) c.529C= (p.Pro177=) n.597C= n.601C= c.610C= (p.Pro204=) n.673C= c.631C= (p.Pro211=) n.562C= c.472C= (p.Pro158=) n.937C= n.358C= c.277C= (p.Pro93=) | |
| 4 | g.110618469G>T | CA104044381 | PITX2 | c.404C>A (p.Pro135His) c.529C>A (p.Pro177Thr) n.597C>A n.601C>A c.610C>A (p.Pro204Thr) n.673C>A c.631C>A (p.Pro211Thr) n.562C>A c.472C>A (p.Pro158Thr) n.937C>A n.358C>A c.277C>A (p.Pro93Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618470G>A | CA357983944 | PITX2 | c.403C>T (p.Pro135Ser) c.528C>T (p.Asn176=) n.596C>T n.600C>T c.609C>T (p.Asn203=) n.672C>T c.630C>T (p.Asn210=) n.561C>T c.471C>T (p.Asn157=) n.936C>T n.357C>T c.276C>T (p.Asn92=) | gnomAD v4 |
| 4 | g.110618470G>C | CA104044383 | PITX2 | c.403C>G (p.Pro135Ala) c.528C>G (p.Asn176Lys) n.596C>G n.600C>G c.609C>G (p.Asn203Lys) n.672C>G c.630C>G (p.Asn210Lys) n.561C>G c.471C>G (p.Asn157Lys) n.936C>G n.357C>G c.276C>G (p.Asn92Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618470G= | CA1485097932 | PITX2 | c.403C= (p.Pro135=) c.528C= (p.Asn176=) n.596C= n.600C= c.609C= (p.Asn203=) n.672C= c.630C= (p.Asn210=) n.561C= c.471C= (p.Asn157=) n.936C= n.357C= c.276C= (p.Asn92=) | |
| 4 | g.110618470G>T | CA357983945 | PITX2 | c.403C>A (p.Pro135Thr) c.528C>A (p.Asn176Lys) n.596C>A n.600C>A c.609C>A (p.Asn203Lys) n.672C>A c.630C>A (p.Asn210Lys) n.561C>A c.471C>A (p.Asn157Lys) n.936C>A n.357C>A c.276C>A (p.Asn92Lys) | |
| 4 | g.110618471T>A | CA357983946 | PITX2 | c.402A>T (p.Gln134His) c.527A>T (p.Asn176Ile) n.595A>T n.599A>T c.608A>T (p.Asn203Ile) n.671A>T c.629A>T (p.Asn210Ile) n.560A>T c.470A>T (p.Asn157Ile) n.935A>T n.356A>T c.275A>T (p.Asn92Ile) | |
| 4 | g.110618471T>C | CA357983947 | PITX2 | c.402A>G (p.Gln134=) c.527A>G (p.Asn176Ser) n.595A>G n.599A>G c.608A>G (p.Asn203Ser) n.671A>G c.629A>G (p.Asn210Ser) n.560A>G c.470A>G (p.Asn157Ser) n.935A>G n.356A>G c.275A>G (p.Asn92Ser) | |
| 4 | g.110618471T>G | CA357983948 | PITX2 | c.402A>C (p.Gln134His) c.527A>C (p.Asn176Thr) n.595A>C n.599A>C c.608A>C (p.Asn203Thr) n.671A>C c.629A>C (p.Asn210Thr) n.560A>C c.470A>C (p.Asn157Thr) n.935A>C n.356A>C c.275A>C (p.Asn92Thr) | |
| 4 | g.110618472T>A | CA357983949 | PITX2 | c.401A>T (p.Gln134Leu) c.526A>T (p.Asn176Tyr) n.594A>T n.598A>T c.607A>T (p.Asn203Tyr) n.670A>T c.628A>T (p.Asn210Tyr) n.559A>T c.469A>T (p.Asn157Tyr) n.934A>T n.355A>T c.274A>T (p.Asn92Tyr) | |
| 4 | g.110618472T>C | CA357983950 | PITX2 | c.401A>G (p.Gln134Arg) c.526A>G (p.Asn176Asp) n.594A>G n.598A>G c.607A>G (p.Asn203Asp) n.670A>G c.628A>G (p.Asn210Asp) n.559A>G c.469A>G (p.Asn157Asp) n.934A>G n.355A>G c.274A>G (p.Asn92Asp) | |
| 4 | g.110618472T>G | CA357983951 | PITX2 | c.401A>C (p.Gln134Pro) c.526A>C (p.Asn176His) n.594A>C n.598A>C c.607A>C (p.Asn203His) n.670A>C c.628A>C (p.Asn210His) n.559A>C c.469A>C (p.Asn157His) n.934A>C n.355A>C c.274A>C (p.Asn92His) | dbSNP |
| 4 | g.110618472T= | CA1485097934 | PITX2 | c.401A= (p.Gln134=) c.526A= (p.Asn176=) n.594A= n.598A= c.607A= (p.Asn203=) n.670A= c.628A= (p.Asn210=) n.559A= c.469A= (p.Asn157=) n.934A= n.355A= c.274A= (p.Asn92=) | |
| 4 | g.110618473G>A | CA357983952 | PITX2 | c.400C>T (p.Gln134Ter) c.525C>T (p.Val175=) n.593C>T n.597C>T c.606C>T (p.Val202=) n.669C>T c.627C>T (p.Val209=) n.558C>T c.468C>T (p.Val156=) n.933C>T n.354C>T c.273C>T (p.Val91=) | |
| 4 | g.110618473G>C | CA357983953 | PITX2 | c.400C>G (p.Gln134Glu) c.525C>G (p.Val175=) n.593C>G n.597C>G c.606C>G (p.Val202=) n.669C>G c.627C>G (p.Val209=) n.558C>G c.468C>G (p.Val156=) n.933C>G n.354C>G c.273C>G (p.Val91=) | |
| 4 | g.110618473G>T | CA357983954 | PITX2 | c.400C>A (p.Gln134Lys) c.525C>A (p.Val175=) n.593C>A n.597C>A c.606C>A (p.Val202=) n.669C>A c.627C>A (p.Val209=) n.558C>A c.468C>A (p.Val156=) n.933C>A n.354C>A c.273C>A (p.Val91=) | |
| 4 | g.110618474A>C | CA357983955 | PITX2 | c.399T>G (p.Arg133=) c.524T>G (p.Val175Gly) n.592T>G n.596T>G c.605T>G (p.Val202Gly) n.668T>G c.626T>G (p.Val209Gly) n.557T>G c.467T>G (p.Val156Gly) n.932T>G n.353T>G c.272T>G (p.Val91Gly) | |
| 4 | g.110618474A>G | CA357983957 | PITX2 | c.399T>C (p.Arg133=) c.524T>C (p.Val175Ala) n.592T>C n.596T>C c.605T>C (p.Val202Ala) n.668T>C c.626T>C (p.Val209Ala) n.557T>C c.467T>C (p.Val156Ala) n.932T>C n.353T>C c.272T>C (p.Val91Ala) | |
| 4 | g.110618474A>T | CA357983956 | PITX2 | c.399T>A (p.Arg133=) c.524T>A (p.Val175Asp) n.592T>A n.596T>A c.605T>A (p.Val202Asp) n.668T>A c.626T>A (p.Val209Asp) n.557T>A c.467T>A (p.Val156Asp) n.932T>A n.353T>A c.272T>A (p.Val91Asp) | |
| 4 | g.110618475C>A | CA357983958 | PITX2 | c.398G>T (p.Arg133Leu) c.523G>T (p.Val175Phe) n.591G>T n.595G>T c.604G>T (p.Val202Phe) n.667G>T c.625G>T (p.Val209Phe) n.556G>T c.466G>T (p.Val156Phe) n.931G>T n.352G>T c.271G>T (p.Val91Phe) | gnomAD v4 |
| 4 | g.110618475C>G | CA357983959 | PITX2 | c.398G>C (p.Arg133Pro) c.523G>C (p.Val175Leu) n.591G>C n.595G>C c.604G>C (p.Val202Leu) n.667G>C c.625G>C (p.Val209Leu) n.556G>C c.466G>C (p.Val156Leu) n.931G>C n.352G>C c.271G>C (p.Val91Leu) | |
| 4 | g.110618475C>T | CA357983960 | PITX2 | c.398G>A (p.Arg133His) c.523G>A (p.Val175Ile) n.591G>A n.595G>A c.604G>A (p.Val202Ile) n.667G>A c.625G>A (p.Val209Ile) n.556G>A c.466G>A (p.Val156Ile) n.931G>A n.352G>A c.271G>A (p.Val91Ile) | gnomAD v4 COSMIC COSMIC |
| 4 | g.110618476G>A | CA3045452 | PITX2 | c.397C>T (p.Arg133Cys) c.522C>T (p.Asn174=) n.590C>T n.594C>T c.603C>T (p.Asn201=) n.666C>T c.624C>T (p.Asn208=) n.555C>T c.465C>T (p.Asn155=) n.930C>T n.351C>T c.270C>T (p.Asn90=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618476G>C | CA357983961 | PITX2 | c.397C>G (p.Arg133Gly) c.522C>G (p.Asn174Lys) n.590C>G n.594C>G c.603C>G (p.Asn201Lys) n.666C>G c.624C>G (p.Asn208Lys) n.555C>G c.465C>G (p.Asn155Lys) n.930C>G n.351C>G c.270C>G (p.Asn90Lys) | |
| 4 | g.110618476G= | CA1485097937 | PITX2 | c.397C= (p.Arg133=) c.522C= (p.Asn174=) n.590C= n.594C= c.603C= (p.Asn201=) n.666C= c.624C= (p.Asn208=) n.555C= c.465C= (p.Asn155=) n.930C= n.351C= c.270C= (p.Asn90=) | |
| 4 | g.110618476G>T | CA357983962 | PITX2 | c.397C>A (p.Arg133Ser) c.522C>A (p.Asn174Lys) n.590C>A n.594C>A c.603C>A (p.Asn201Lys) n.666C>A c.624C>A (p.Asn208Lys) n.555C>A c.465C>A (p.Asn155Lys) n.930C>A n.351C>A c.270C>A (p.Asn90Lys) | |
| 4 | g.110618477T>A | CA357983963 | PITX2 | c.396A>T (p.Glu132Asp) c.521A>T (p.Asn174Ile) n.589A>T n.593A>T c.602A>T (p.Asn201Ile) n.665A>T c.623A>T (p.Asn208Ile) n.554A>T c.464A>T (p.Asn155Ile) n.929A>T n.350A>T c.269A>T (p.Asn90Ile) | |
| 4 | g.110618477T>C | CA357983964 | PITX2 | c.396A>G (p.Glu132=) c.521A>G (p.Asn174Ser) n.589A>G n.593A>G c.602A>G (p.Asn201Ser) n.665A>G c.623A>G (p.Asn208Ser) n.554A>G c.464A>G (p.Asn155Ser) n.929A>G n.350A>G c.269A>G (p.Asn90Ser) | gnomAD v4 |
| 4 | g.110618477T>G | CA357983965 | PITX2 | c.396A>C (p.Glu132Asp) c.521A>C (p.Asn174Thr) n.589A>C n.593A>C c.602A>C (p.Asn201Thr) n.665A>C c.623A>C (p.Asn208Thr) n.554A>C c.464A>C (p.Asn155Thr) n.929A>C n.350A>C c.269A>C (p.Asn90Thr) | gnomAD v4 |
| 4 | g.110618478T>A | CA357983966 | PITX2 | c.395A>T (p.Glu132Val) c.520A>T (p.Asn174Tyr) n.588A>T n.592A>T c.601A>T (p.Asn201Tyr) n.664A>T c.622A>T (p.Asn208Tyr) n.553A>T c.463A>T (p.Asn155Tyr) n.928A>T n.349A>T c.268A>T (p.Asn90Tyr) | |
| 4 | g.110618478T>C | CA357983967 | PITX2 | c.395A>G (p.Glu132Gly) c.520A>G (p.Asn174Asp) n.588A>G n.592A>G c.601A>G (p.Asn201Asp) n.664A>G c.622A>G (p.Asn208Asp) n.553A>G c.463A>G (p.Asn155Asp) n.928A>G n.349A>G c.268A>G (p.Asn90Asp) | gnomAD v4 |
| 4 | g.110618478T>G | CA357983968 | PITX2 | c.395A>C (p.Glu132Ala) c.520A>C (p.Asn174His) n.588A>C n.592A>C c.601A>C (p.Asn201His) n.664A>C c.622A>C (p.Asn208His) n.553A>C c.463A>C (p.Asn155His) n.928A>C n.349A>C c.268A>C (p.Asn90His) | |
| 4 | g.110618479C>A | CA357983971 | PITX2 | c.394G>T (p.Glu132Ter) c.519G>T (p.Met173Ile) n.587G>T n.591G>T c.600G>T (p.Met200Ile) n.663G>T c.621G>T (p.Met207Ile) n.552G>T c.462G>T (p.Met154Ile) n.927G>T n.348G>T c.267G>T (p.Met89Ile) | |
| 4 | g.110618479C>G | CA357983970 | PITX2 | c.394G>C (p.Glu132Gln) c.519G>C (p.Met173Ile) n.587G>C n.591G>C c.600G>C (p.Met200Ile) n.663G>C c.621G>C (p.Met207Ile) n.552G>C c.462G>C (p.Met154Ile) n.927G>C n.348G>C c.267G>C (p.Met89Ile) | |
| 4 | g.110618479C>T | CA357983969 | PITX2 | c.394G>A (p.Glu132Lys) c.519G>A (p.Met173Ile) n.587G>A n.591G>A c.600G>A (p.Met200Ile) n.663G>A c.621G>A (p.Met207Ile) n.552G>A c.462G>A (p.Met154Ile) n.927G>A n.348G>A c.267G>A (p.Met89Ile) | COSMIC COSMIC |
| 4 | g.110618480A>C | CA357983972 | PITX2 | c.393T>G (p.Tyr131Ter) c.518T>G (p.Met173Arg) n.586T>G n.590T>G c.599T>G (p.Met200Arg) n.662T>G c.620T>G (p.Met207Arg) n.551T>G c.461T>G (p.Met154Arg) n.926T>G n.347T>G c.266T>G (p.Met89Arg) | |
| 4 | g.110618480A>G | CA357983973 | PITX2 | c.393T>C (p.Tyr131=) c.518T>C (p.Met173Thr) n.586T>C n.590T>C c.599T>C (p.Met200Thr) n.662T>C c.620T>C (p.Met207Thr) n.551T>C c.461T>C (p.Met154Thr) n.926T>C n.347T>C c.266T>C (p.Met89Thr) | gnomAD v4 |
| 4 | g.110618480A>T | CA357983974 | PITX2 | c.393T>A (p.Tyr131Ter) c.518T>A (p.Met173Lys) n.586T>A n.590T>A c.599T>A (p.Met200Lys) n.662T>A c.620T>A (p.Met207Lys) n.551T>A c.461T>A (p.Met154Lys) n.926T>A n.347T>A c.266T>A (p.Met89Lys) | |
| 4 | g.110618481T>A | CA357983975 | PITX2 | c.392A>T (p.Tyr131Phe) c.517A>T (p.Met173Leu) n.585A>T n.589A>T c.598A>T (p.Met200Leu) n.661A>T c.619A>T (p.Met207Leu) n.550A>T c.460A>T (p.Met154Leu) n.925A>T n.346A>T c.265A>T (p.Met89Leu) | |
| 4 | g.110618481T>C | CA3045453 | PITX2 | c.392A>G (p.Tyr131Cys) c.517A>G (p.Met173Val) n.585A>G n.589A>G c.598A>G (p.Met200Val) n.661A>G c.619A>G (p.Met207Val) n.550A>G c.460A>G (p.Met154Val) n.925A>G n.346A>G c.265A>G (p.Met89Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618481T>G | CA357983976 | PITX2 | c.392A>C (p.Tyr131Ser) c.517A>C (p.Met173Leu) n.585A>C n.589A>C c.598A>C (p.Met200Leu) n.661A>C c.619A>C (p.Met207Leu) n.550A>C c.460A>C (p.Met154Leu) n.925A>C n.346A>C c.265A>C (p.Met89Leu) | |
| 4 | g.110618481T= | CA1485097945 | PITX2 | c.392A= (p.Tyr131=) c.517A= (p.Met173=) n.585A= n.589A= c.598A= (p.Met200=) n.661A= c.619A= (p.Met207=) n.550A= c.460A= (p.Met154=) n.925A= n.346A= c.265A= (p.Met89=) | |
| 4 | g.110618482A= | CA1485097950 | PITX2 | c.391T= (p.Tyr131=) c.516T= (p.Ser172=) n.584T= n.588T= c.597T= (p.Ser199=) n.660T= c.618T= (p.Ser206=) n.549T= c.459T= (p.Ser153=) n.924T= n.345T= c.264T= (p.Ser88=) | |
| 4 | g.110618482A>C | CA3045454 | PITX2 | c.391T>G (p.Tyr131Asp) c.516T>G (p.Ser172=) n.584T>G n.588T>G c.597T>G (p.Ser199=) n.660T>G c.618T>G (p.Ser206=) n.549T>G c.459T>G (p.Ser153=) n.924T>G n.345T>G c.264T>G (p.Ser88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618482A>G | CA357983977 | PITX2 | c.391T>C (p.Tyr131His) c.516T>C (p.Ser172=) n.584T>C n.588T>C c.597T>C (p.Ser199=) n.660T>C c.618T>C (p.Ser206=) n.549T>C c.459T>C (p.Ser153=) n.924T>C n.345T>C c.264T>C (p.Ser88=) | gnomAD v4 |
| 4 | g.110618482A>T | CA357983978 | PITX2 | c.391T>A (p.Tyr131Asn) c.516T>A (p.Ser172=) n.584T>A n.588T>A c.597T>A (p.Ser199=) n.660T>A c.618T>A (p.Ser206=) n.549T>A c.459T>A (p.Ser153=) n.924T>A n.345T>A c.264T>A (p.Ser88=) | |
| 4 | g.110618483G>A | CA357983979 | PITX2 | c.390C>T (p.Leu130=) c.515C>T (p.Ser172Phe) n.583C>T n.587C>T c.596C>T (p.Ser199Phe) n.659C>T c.617C>T (p.Ser206Phe) n.548C>T c.458C>T (p.Ser153Phe) n.923C>T n.344C>T c.263C>T (p.Ser88Phe) | |
| 4 | g.110618483G>C | CA357983980 | PITX2 | c.390C>G (p.Leu130=) c.515C>G (p.Ser172Cys) n.583C>G n.587C>G c.596C>G (p.Ser199Cys) n.659C>G c.617C>G (p.Ser206Cys) n.548C>G c.458C>G (p.Ser153Cys) n.923C>G n.344C>G c.263C>G (p.Ser88Cys) | |
| 4 | g.110618483G>T | CA357983981 | PITX2 | c.390C>A (p.Leu130=) c.515C>A (p.Ser172Tyr) n.583C>A n.587C>A c.596C>A (p.Ser199Tyr) n.659C>A c.617C>A (p.Ser206Tyr) n.548C>A c.458C>A (p.Ser153Tyr) n.923C>A n.344C>A c.263C>A (p.Ser88Tyr) | |
| 4 | g.110618484A>C | CA357983982 | PITX2 | c.389T>G (p.Leu130Arg) c.514T>G (p.Ser172Ala) n.582T>G n.586T>G c.595T>G (p.Ser199Ala) n.658T>G c.616T>G (p.Ser206Ala) n.547T>G c.457T>G (p.Ser153Ala) n.922T>G n.343T>G c.262T>G (p.Ser88Ala) | |
| 4 | g.110618484A>G | CA357983984 | PITX2 | c.389T>C (p.Leu130Pro) c.514T>C (p.Ser172Pro) n.582T>C n.586T>C c.595T>C (p.Ser199Pro) n.658T>C c.616T>C (p.Ser206Pro) n.547T>C c.457T>C (p.Ser153Pro) n.922T>C n.343T>C c.262T>C (p.Ser88Pro) | |
| 4 | g.110618484A>T | CA357983983 | PITX2 | c.389T>A (p.Leu130His) c.514T>A (p.Ser172Thr) n.582T>A n.586T>A c.595T>A (p.Ser199Thr) n.658T>A c.616T>A (p.Ser206Thr) n.547T>A c.457T>A (p.Ser153Thr) n.922T>A n.343T>A c.262T>A (p.Ser88Thr) | |
| 4 | g.110618485G>A | CA357983985 | PITX2 | c.388C>T (p.Leu130Phe) c.513C>T (p.Asn171=) n.581C>T n.585C>T c.594C>T (p.Asn198=) n.657C>T c.615C>T (p.Asn205=) n.546C>T c.456C>T (p.Asn152=) n.921C>T n.342C>T c.261C>T (p.Asn87=) | gnomAD v4 |
| 4 | g.110618485G>C | CA357983987 | PITX2 | c.388C>G (p.Leu130Val) c.513C>G (p.Asn171Lys) n.581C>G n.585C>G c.594C>G (p.Asn198Lys) n.657C>G c.615C>G (p.Asn205Lys) n.546C>G c.456C>G (p.Asn152Lys) n.921C>G n.342C>G c.261C>G (p.Asn87Lys) | gnomAD v4 |
| 4 | g.110618485G>T | CA357983986 | PITX2 | c.388C>A (p.Leu130Ile) c.513C>A (p.Asn171Lys) n.581C>A n.585C>A c.594C>A (p.Asn198Lys) n.657C>A c.615C>A (p.Asn205Lys) n.546C>A c.456C>A (p.Asn152Lys) n.921C>A n.342C>A c.261C>A (p.Asn87Lys) | |
| 4 | g.110618486T>A | CA357983988 | PITX2 | c.387A>T (p.Gln129His) c.512A>T (p.Asn171Ile) n.580A>T n.584A>T c.593A>T (p.Asn198Ile) n.656A>T c.614A>T (p.Asn205Ile) n.545A>T c.455A>T (p.Asn152Ile) n.920A>T n.341A>T c.260A>T (p.Asn87Ile) | |
| 4 | g.110618486T>C | CA3045455 | PITX2 | c.387A>G (p.Gln129=) c.512A>G (p.Asn171Ser) n.580A>G n.584A>G c.593A>G (p.Asn198Ser) n.656A>G c.614A>G (p.Asn205Ser) n.545A>G c.455A>G (p.Asn152Ser) n.920A>G n.341A>G c.260A>G (p.Asn87Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618486T>G | CA357983989 | PITX2 | c.387A>C (p.Gln129His) c.512A>C (p.Asn171Thr) n.580A>C n.584A>C c.593A>C (p.Asn198Thr) n.656A>C c.614A>C (p.Asn205Thr) n.545A>C c.455A>C (p.Asn152Thr) n.920A>C n.341A>C c.260A>C (p.Asn87Thr) | |
| 4 | g.110618486T= | CA1485097957 | PITX2 | c.387A= (p.Gln129=) c.512A= (p.Asn171=) n.580A= n.584A= c.593A= (p.Asn198=) n.656A= c.614A= (p.Asn205=) n.545A= c.455A= (p.Asn152=) n.920A= n.341A= c.260A= (p.Asn87=) | |
| 4 | g.110618487T>A | CA357983990 | PITX2 | c.386A>T (p.Gln129Leu) c.511A>T (p.Asn171Tyr) n.579A>T n.583A>T c.592A>T (p.Asn198Tyr) n.655A>T c.613A>T (p.Asn205Tyr) n.544A>T c.454A>T (p.Asn152Tyr) n.919A>T n.340A>T c.259A>T (p.Asn87Tyr) | |
| 4 | g.110618487T>C | CA3045456 | PITX2 | c.386A>G (p.Gln129Arg) c.511A>G (p.Asn171Asp) n.579A>G n.583A>G c.592A>G (p.Asn198Asp) n.655A>G c.613A>G (p.Asn205Asp) n.544A>G c.454A>G (p.Asn152Asp) n.919A>G n.340A>G c.259A>G (p.Asn87Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618487T>G | CA357983991 | PITX2 | c.386A>C (p.Gln129Pro) c.511A>C (p.Asn171His) n.579A>C n.583A>C c.592A>C (p.Asn198His) n.655A>C c.613A>C (p.Asn205His) n.544A>C c.454A>C (p.Asn152His) n.919A>C n.340A>C c.259A>C (p.Asn87His) | |
| 4 | g.110618487T= | CA1485097963 | PITX2 | c.386A= (p.Gln129=) c.511A= (p.Asn171=) n.579A= n.583A= c.592A= (p.Asn198=) n.655A= c.613A= (p.Asn205=) n.544A= c.454A= (p.Asn152=) n.919A= n.340A= c.259A= (p.Asn87=) | |
| 4 | g.110618487_110618490delinsTGAA | CA1485097961 | PITX2 | c.383_386delinsTTCA (p.Leu128=) c.508_511delinsTTCA (p.Phe170=) n.576_579delinsTTCA n.580_583delinsTTCA c.589_592delinsTTCA (p.Phe197=) n.652_655delinsTTCA c.610_613delinsTTCA (p.Phe204=) n.541_544delinsTTCA c.451_454delinsTTCA (p.Phe151=) n.916_919delinsTTCA n.337_340delinsTTCA c.256_259delinsTTCA (p.Phe86=) | |
| 4 | g.110618488G>A | CA3045457 | PITX2 | c.385C>T (p.Gln129Ter) c.510C>T (p.Phe170=) n.578C>T n.582C>T c.591C>T (p.Phe197=) n.654C>T c.612C>T (p.Phe204=) n.543C>T c.453C>T (p.Phe151=) n.918C>T n.339C>T c.258C>T (p.Phe86=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618488G>C | CA357983992 | PITX2 | c.385C>G (p.Gln129Glu) c.510C>G (p.Phe170Leu) n.578C>G n.582C>G c.591C>G (p.Phe197Leu) n.654C>G c.612C>G (p.Phe204Leu) n.543C>G c.453C>G (p.Phe151Leu) n.918C>G n.339C>G c.258C>G (p.Phe86Leu) | COSMIC COSMIC |
| 4 | g.110618488G= | CA1485097969 | PITX2 | c.385C= (p.Gln129=) c.510C= (p.Phe170=) n.578C= n.582C= c.591C= (p.Phe197=) n.654C= c.612C= (p.Phe204=) n.543C= c.453C= (p.Phe151=) n.918C= n.339C= c.258C= (p.Phe86=) | |
| 4 | g.110618488G>T | CA357983993 | PITX2 | c.385C>A (p.Gln129Lys) c.510C>A (p.Phe170Leu) n.578C>A n.582C>A c.591C>A (p.Phe197Leu) n.654C>A c.612C>A (p.Phe204Leu) n.543C>A c.453C>A (p.Phe151Leu) n.918C>A n.339C>A c.258C>A (p.Phe86Leu) | |
| 4 | g.110618492_110618494del | CA1485097968 | PITX2 | c.383_385del (p.Leu128del) c.508_510del (p.Phe170del) n.576_578del n.580_582del c.589_591del (p.Phe197del) n.652_654del c.610_612del (p.Phe204del) n.541_543del c.451_453del (p.Phe151del) n.916_918del n.337_339del c.256_258del (p.Phe86del) | dbSNP |
| 4 | g.110618489A>C | CA357983994 | PITX2 | c.384T>G (p.Leu128=) c.509T>G (p.Phe170Cys) n.577T>G n.581T>G c.590T>G (p.Phe197Cys) n.653T>G c.611T>G (p.Phe204Cys) n.542T>G c.452T>G (p.Phe151Cys) n.917T>G n.338T>G c.257T>G (p.Phe86Cys) | |
| 4 | g.110618489A>G | CA357983995 | PITX2 | c.384T>C (p.Leu128=) c.509T>C (p.Phe170Ser) n.577T>C n.581T>C c.590T>C (p.Phe197Ser) n.653T>C c.611T>C (p.Phe204Ser) n.542T>C c.452T>C (p.Phe151Ser) n.917T>C n.338T>C c.257T>C (p.Phe86Ser) | |
| 4 | g.110618489A>T | CA357983996 | PITX2 | c.384T>A (p.Leu128=) c.509T>A (p.Phe170Tyr) n.577T>A n.581T>A c.590T>A (p.Phe197Tyr) n.653T>A c.611T>A (p.Phe204Tyr) n.542T>A c.452T>A (p.Phe151Tyr) n.917T>A n.338T>A c.257T>A (p.Phe86Tyr) | |
| 4 | g.110618490A= | CA1485097973 | PITX2 | c.383T= (p.Leu128=) c.508T= (p.Phe170=) n.576T= n.580T= c.589T= (p.Phe197=) n.652T= c.610T= (p.Phe204=) n.541T= c.451T= (p.Phe151=) n.916T= n.337T= c.256T= (p.Phe86=) | |
| 4 | g.110618490A>C | CA3045458 | PITX2 | c.383T>G (p.Leu128Arg) c.508T>G (p.Phe170Val) n.576T>G n.580T>G c.589T>G (p.Phe197Val) n.652T>G c.610T>G (p.Phe204Val) n.541T>G c.451T>G (p.Phe151Val) n.916T>G n.337T>G c.256T>G (p.Phe86Val) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 4 | g.110618490A>G | CA357983997 | PITX2 | c.383T>C (p.Leu128Pro) c.508T>C (p.Phe170Leu) n.576T>C n.580T>C c.589T>C (p.Phe197Leu) n.652T>C c.610T>C (p.Phe204Leu) n.541T>C c.451T>C (p.Phe151Leu) n.916T>C n.337T>C c.256T>C (p.Phe86Leu) | gnomAD v4 |
| 4 | g.110618490A>T | CA357983998 | PITX2 | c.383T>A (p.Leu128His) c.508T>A (p.Phe170Ile) n.576T>A n.580T>A c.589T>A (p.Phe197Ile) n.652T>A c.610T>A (p.Phe204Ile) n.541T>A c.451T>A (p.Phe151Ile) n.916T>A n.337T>A c.256T>A (p.Phe86Ile) | |
| 4 | g.110618491G>A | CA357983999 | PITX2 | c.382C>T (p.Leu128Phe) c.507C>T (p.Phe169=) n.575C>T n.579C>T c.588C>T (p.Phe196=) n.651C>T c.609C>T (p.Phe203=) n.540C>T c.450C>T (p.Phe150=) n.915C>T n.336C>T c.255C>T (p.Phe85=) | |
| 4 | g.110618491G>C | CA357984000 | PITX2 | c.382C>G (p.Leu128Val) c.507C>G (p.Phe169Leu) n.575C>G n.579C>G c.588C>G (p.Phe196Leu) n.651C>G c.609C>G (p.Phe203Leu) n.540C>G c.450C>G (p.Phe150Leu) n.915C>G n.336C>G c.255C>G (p.Phe85Leu) | |
| 4 | g.110618491G>T | CA357984001 | PITX2 | c.382C>A (p.Leu128Ile) c.507C>A (p.Phe169Leu) n.575C>A n.579C>A c.588C>A (p.Phe196Leu) n.651C>A c.609C>A (p.Phe203Leu) n.540C>A c.450C>A (p.Phe150Leu) n.915C>A n.336C>A c.255C>A (p.Phe85Leu) | |
| 4 | g.110618492A>C | CA357984004 | PITX2 | c.381T>G (p.Leu127=) c.506T>G (p.Phe169Cys) n.574T>G n.578T>G c.587T>G (p.Phe196Cys) n.650T>G c.608T>G (p.Phe203Cys) n.539T>G c.449T>G (p.Phe150Cys) n.914T>G n.335T>G c.254T>G (p.Phe85Cys) | |
| 4 | g.110618492A>G | CA357984002 | PITX2 | c.381T>C (p.Leu127=) c.506T>C (p.Phe169Ser) n.574T>C n.578T>C c.587T>C (p.Phe196Ser) n.650T>C c.608T>C (p.Phe203Ser) n.539T>C c.449T>C (p.Phe150Ser) n.914T>C n.335T>C c.254T>C (p.Phe85Ser) | |
| 4 | g.110618492A>T | CA357984003 | PITX2 | c.381T>A (p.Leu127=) c.506T>A (p.Phe169Tyr) n.574T>A n.578T>A c.587T>A (p.Phe196Tyr) n.650T>A c.608T>A (p.Phe203Tyr) n.539T>A c.449T>A (p.Phe150Tyr) n.914T>A n.335T>A c.254T>A (p.Phe85Tyr) | |
| 4 | g.110618493A>C | CA357984005 | PITX2 | c.380T>G (p.Leu127Arg) c.505T>G (p.Phe169Val) n.573T>G n.577T>G c.586T>G (p.Phe196Val) n.649T>G c.607T>G (p.Phe203Val) n.538T>G c.448T>G (p.Phe150Val) n.913T>G n.334T>G c.253T>G (p.Phe85Val) | |
| 4 | g.110618493A>G | CA357984006 | PITX2 | c.380T>C (p.Leu127Pro) c.505T>C (p.Phe169Leu) n.573T>C n.577T>C c.586T>C (p.Phe196Leu) n.649T>C c.607T>C (p.Phe203Leu) n.538T>C c.448T>C (p.Phe150Leu) n.913T>C n.334T>C c.253T>C (p.Phe85Leu) | |
| 4 | g.110618493A>T | CA357984007 | PITX2 | c.380T>A (p.Leu127His) c.505T>A (p.Phe169Ile) n.573T>A n.577T>A c.586T>A (p.Phe196Ile) n.649T>A c.607T>A (p.Phe203Ile) n.538T>A c.448T>A (p.Phe150Ile) n.913T>A n.334T>A c.253T>A (p.Phe85Ile) | |
| 4 | g.110618494G>A | CA357984008 | PITX2 | c.379C>T (p.Leu127Phe) c.504C>T (p.Pro168=) n.572C>T n.576C>T c.585C>T (p.Pro195=) n.648C>T c.606C>T (p.Pro202=) n.537C>T c.447C>T (p.Pro149=) n.912C>T n.333C>T c.252C>T (p.Pro84=) | |
| 4 | g.110618494G>C | CA357984009 | PITX2 | c.379C>G (p.Leu127Val) c.504C>G (p.Pro168=) n.572C>G n.576C>G c.585C>G (p.Pro195=) n.648C>G c.606C>G (p.Pro202=) n.537C>G c.447C>G (p.Pro149=) n.912C>G n.333C>G c.252C>G (p.Pro84=) | |
| 4 | g.110618494G>T | CA357984010 | PITX2 | c.379C>A (p.Leu127Ile) c.504C>A (p.Pro168=) n.572C>A n.576C>A c.585C>A (p.Pro195=) n.648C>A c.606C>A (p.Pro202=) n.537C>A c.447C>A (p.Pro149=) n.912C>A n.333C>A c.252C>A (p.Pro84=) | |
| 4 | g.110618495G>A | CA357984011 | PITX2 | c.378C>T (p.Pro126=) c.503C>T (p.Pro168Leu) n.571C>T n.575C>T c.584C>T (p.Pro195Leu) n.647C>T c.605C>T (p.Pro202Leu) n.536C>T c.446C>T (p.Pro149Leu) n.911C>T n.332C>T c.251C>T (p.Pro84Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618495G>C | CA357984012 | PITX2 | c.378C>G (p.Pro126=) c.503C>G (p.Pro168Arg) n.571C>G n.575C>G c.584C>G (p.Pro195Arg) n.647C>G c.605C>G (p.Pro202Arg) n.536C>G c.446C>G (p.Pro149Arg) n.911C>G n.332C>G c.251C>G (p.Pro84Arg) | |
| 4 | g.110618495G= | CA1485097977 | PITX2 | c.378C= (p.Pro126=) c.503C= (p.Pro168=) n.571C= n.575C= c.584C= (p.Pro195=) n.647C= c.605C= (p.Pro202=) n.536C= c.446C= (p.Pro149=) n.911C= n.332C= c.251C= (p.Pro84=) | |
| 4 | g.110618495G>T | CA3045459 | PITX2 | c.378C>A (p.Pro126=) c.503C>A (p.Pro168His) n.571C>A n.575C>A c.584C>A (p.Pro195His) n.647C>A c.605C>A (p.Pro202His) n.536C>A c.446C>A (p.Pro149His) n.911C>A n.332C>A c.251C>A (p.Pro84His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618496G>A | CA357984013 | PITX2 | c.377C>T (p.Pro126Leu) c.502C>T (p.Pro168Ser) n.570C>T n.574C>T c.583C>T (p.Pro195Ser) n.646C>T c.604C>T (p.Pro202Ser) n.535C>T c.445C>T (p.Pro149Ser) n.910C>T n.331C>T c.250C>T (p.Pro84Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618496G>C | CA357984014 | PITX2 | c.377C>G (p.Pro126Arg) c.502C>G (p.Pro168Ala) n.570C>G n.574C>G c.583C>G (p.Pro195Ala) n.646C>G c.604C>G (p.Pro202Ala) n.535C>G c.445C>G (p.Pro149Ala) n.910C>G n.331C>G c.250C>G (p.Pro84Ala) | |
| 4 | g.110618496G= | CA1485097982 | PITX2 | c.377C= (p.Pro126=) c.502C= (p.Pro168=) n.570C= n.574C= c.583C= (p.Pro195=) n.646C= c.604C= (p.Pro202=) n.535C= c.445C= (p.Pro149=) n.910C= n.331C= c.250C= (p.Pro84=) | |
| 4 | g.110618496G>T | CA357984015 | PITX2 | c.377C>A (p.Pro126His) c.502C>A (p.Pro168Thr) n.570C>A n.574C>A c.583C>A (p.Pro195Thr) n.646C>A c.604C>A (p.Pro202Thr) n.535C>A c.445C>A (p.Pro149Thr) n.910C>A n.331C>A c.250C>A (p.Pro84Thr) | COSMIC COSMIC |
| 4 | g.110618497G>A | CA357984018 | PITX2 | c.376C>T (p.Pro126Ser) c.501C>T (p.Phe167=) n.569C>T n.573C>T c.582C>T (p.Phe194=) n.645C>T c.603C>T (p.Phe201=) n.534C>T c.444C>T (p.Phe148=) n.909C>T n.330C>T c.249C>T (p.Phe83=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.110618497G>C | CA357984017 | PITX2 | c.376C>G (p.Pro126Ala) c.501C>G (p.Phe167Leu) n.569C>G n.573C>G c.582C>G (p.Phe194Leu) n.645C>G c.603C>G (p.Phe201Leu) n.534C>G c.444C>G (p.Phe148Leu) n.909C>G n.330C>G c.249C>G (p.Phe83Leu) | dbSNP |
| 4 | g.110618497G= | CA1485097988 | PITX2 | c.376C= (p.Pro126=) c.501C= (p.Phe167=) n.569C= n.573C= c.582C= (p.Phe194=) n.645C= c.603C= (p.Phe201=) n.534C= c.444C= (p.Phe148=) n.909C= n.330C= c.249C= (p.Phe83=) | |
| 4 | g.110618497G>T | CA357984016 | PITX2 | c.376C>A (p.Pro126Thr) c.501C>A (p.Phe167Leu) n.569C>A n.573C>A c.582C>A (p.Phe194Leu) n.645C>A c.603C>A (p.Phe201Leu) n.534C>A c.444C>A (p.Phe148Leu) n.909C>A n.330C>A c.249C>A (p.Phe83Leu) | dbSNP |
| 4 | g.110618498A>C | CA357984021 | PITX2 | c.375T>G (p.Leu125=) c.500T>G (p.Phe167Cys) n.568T>G n.572T>G c.581T>G (p.Phe194Cys) n.644T>G c.602T>G (p.Phe201Cys) n.533T>G c.443T>G (p.Phe148Cys) n.908T>G n.329T>G c.248T>G (p.Phe83Cys) | |
| 4 | g.110618498A>G | CA357984019 | PITX2 | c.375T>C (p.Leu125=) c.500T>C (p.Phe167Ser) n.568T>C n.572T>C c.581T>C (p.Phe194Ser) n.644T>C c.602T>C (p.Phe201Ser) n.533T>C c.443T>C (p.Phe148Ser) n.908T>C n.329T>C c.248T>C (p.Phe83Ser) | |
| 4 | g.110618498A>T | CA357984020 | PITX2 | c.375T>A (p.Leu125=) c.500T>A (p.Phe167Tyr) n.568T>A n.572T>A c.581T>A (p.Phe194Tyr) n.644T>A c.602T>A (p.Phe201Tyr) n.533T>A c.443T>A (p.Phe148Tyr) n.908T>A n.329T>A c.248T>A (p.Phe83Tyr) | |
| 4 | g.110618499A>C | CA357984022 | PITX2 | c.374T>G (p.Leu125Arg) c.499T>G (p.Phe167Val) n.567T>G n.571T>G c.580T>G (p.Phe194Val) n.643T>G c.601T>G (p.Phe201Val) n.532T>G c.442T>G (p.Phe148Val) n.907T>G n.328T>G c.247T>G (p.Phe83Val) | |
| 4 | g.110618499A>G | CA357984023 | PITX2 | c.374T>C (p.Leu125Pro) c.499T>C (p.Phe167Leu) n.567T>C n.571T>C c.580T>C (p.Phe194Leu) n.643T>C c.601T>C (p.Phe201Leu) n.532T>C c.442T>C (p.Phe148Leu) n.907T>C n.328T>C c.247T>C (p.Phe83Leu) | |
| 4 | g.110618499A>T | CA357984024 | PITX2 | c.374T>A (p.Leu125His) c.499T>A (p.Phe167Ile) n.567T>A n.571T>A c.580T>A (p.Phe194Ile) n.643T>A c.601T>A (p.Phe201Ile) n.532T>A c.442T>A (p.Phe148Ile) n.907T>A n.328T>A c.247T>A (p.Phe83Ile) | |
| 4 | g.110618500G>A | CA357984027 | PITX2 | c.373C>T (p.Leu125Phe) c.498C>T (p.Ser166=) n.566C>T n.570C>T c.579C>T (p.Ser193=) n.642C>T c.600C>T (p.Ser200=) n.531C>T c.441C>T (p.Ser147=) n.906C>T n.327C>T c.246C>T (p.Ser82=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618500G>C | CA357984026 | PITX2 | c.373C>G (p.Leu125Val) c.498C>G (p.Ser166Arg) n.566C>G n.570C>G c.579C>G (p.Ser193Arg) n.642C>G c.600C>G (p.Ser200Arg) n.531C>G c.441C>G (p.Ser147Arg) n.906C>G n.327C>G c.246C>G (p.Ser82Arg) | |
| 4 | g.110618500G= | CA1485097994 | PITX2 | c.373C= (p.Leu125=) c.498C= (p.Ser166=) n.566C= n.570C= c.579C= (p.Ser193=) n.642C= c.600C= (p.Ser200=) n.531C= c.441C= (p.Ser147=) n.906C= n.327C= c.246C= (p.Ser82=) | |
| 4 | g.110618500G>T | CA357984025 | PITX2 | c.373C>A (p.Leu125Ile) c.498C>A (p.Ser166Arg) n.566C>A n.570C>A c.579C>A (p.Ser193Arg) n.642C>A c.600C>A (p.Ser200Arg) n.531C>A c.441C>A (p.Ser147Arg) n.906C>A n.327C>A c.246C>A (p.Ser82Arg) | |
| 4 | g.110618501C>A | CA357984028 | PITX2 | c.372G>T (p.Glu124Asp) c.497G>T (p.Ser166Ile) n.565G>T n.569G>T c.578G>T (p.Ser193Ile) n.641G>T c.599G>T (p.Ser200Ile) n.530G>T c.440G>T (p.Ser147Ile) n.905G>T n.326G>T c.245G>T (p.Ser82Ile) | |
| 4 | g.110618501C= | CA1485097997 | PITX2 | c.372G= (p.Glu124=) c.497G= (p.Ser166=) n.565G= n.569G= c.578G= (p.Ser193=) n.641G= c.599G= (p.Ser200=) n.530G= c.440G= (p.Ser147=) n.905G= n.326G= c.245G= (p.Ser82=) | |
| 4 | g.110618501C>G | CA357984029 | PITX2 | c.372G>C (p.Glu124Asp) c.497G>C (p.Ser166Thr) n.565G>C n.569G>C c.578G>C (p.Ser193Thr) n.641G>C c.599G>C (p.Ser200Thr) n.530G>C c.440G>C (p.Ser147Thr) n.905G>C n.326G>C c.245G>C (p.Ser82Thr) | |
| 4 | g.110618501C>T | CA357984030 | PITX2 | c.372G>A (p.Glu124=) c.497G>A (p.Ser166Asn) n.565G>A n.569G>A c.578G>A (p.Ser193Asn) n.641G>A c.599G>A (p.Ser200Asn) n.530G>A c.440G>A (p.Ser147Asn) n.905G>A n.326G>A c.245G>A (p.Ser82Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618502T>A | CA357984031 | PITX2 | c.371A>T (p.Glu124Val) c.496A>T (p.Ser166Cys) n.564A>T n.568A>T c.577A>T (p.Ser193Cys) n.640A>T c.598A>T (p.Ser200Cys) n.529A>T c.439A>T (p.Ser147Cys) n.904A>T n.325A>T c.244A>T (p.Ser82Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618502T>C | CA357984032 | PITX2 | c.371A>G (p.Glu124Gly) c.496A>G (p.Ser166Gly) n.564A>G n.568A>G c.577A>G (p.Ser193Gly) n.640A>G c.598A>G (p.Ser200Gly) n.529A>G c.439A>G (p.Ser147Gly) n.904A>G n.325A>G c.244A>G (p.Ser82Gly) | gnomAD v4 |
| 4 | g.110618502T>G | CA357984033 | PITX2 | c.371A>C (p.Glu124Ala) c.496A>C (p.Ser166Arg) n.564A>C n.568A>C c.577A>C (p.Ser193Arg) n.640A>C c.598A>C (p.Ser200Arg) n.529A>C c.439A>C (p.Ser147Arg) n.904A>C n.325A>C c.244A>C (p.Ser82Arg) | |
| 4 | g.110618502T= | CA1485097999 | PITX2 | c.371A= (p.Glu124=) c.496A= (p.Ser166=) n.564A= n.568A= c.577A= (p.Ser193=) n.640A= c.598A= (p.Ser200=) n.529A= c.439A= (p.Ser147=) n.904A= n.325A= c.244A= (p.Ser82=) | |
| 4 | g.110618503C>A | CA357984034 | PITX2 | c.370G>T (p.Glu124Ter) c.495G>T (p.Lys165Asn) n.563G>T n.567G>T c.576G>T (p.Lys192Asn) n.639G>T c.597G>T (p.Lys199Asn) n.528G>T c.438G>T (p.Lys146Asn) n.903G>T n.324G>T c.243G>T (p.Lys81Asn) | |
| 4 | g.110618503C>G | CA357984036 | PITX2 | c.370G>C (p.Glu124Gln) c.495G>C (p.Lys165Asn) n.563G>C n.567G>C c.576G>C (p.Lys192Asn) n.639G>C c.597G>C (p.Lys199Asn) n.528G>C c.438G>C (p.Lys146Asn) n.903G>C n.324G>C c.243G>C (p.Lys81Asn) | |
| 4 | g.110618503C>T | CA357984035 | PITX2 | c.370G>A (p.Glu124Lys) c.495G>A (p.Lys165=) n.563G>A n.567G>A c.576G>A (p.Lys192=) n.639G>A c.597G>A (p.Lys199=) n.528G>A c.438G>A (p.Lys146=) n.903G>A n.324G>A c.243G>A (p.Lys81=) | |
| 4 | g.110618504T>A | CA357984037 | PITX2 | c.369A>T (p.Gln123His) c.494A>T (p.Lys165Met) n.562A>T n.566A>T c.575A>T (p.Lys192Met) n.638A>T c.596A>T (p.Lys199Met) n.527A>T c.437A>T (p.Lys146Met) n.902A>T n.323A>T c.242A>T (p.Lys81Met) | |
| 4 | g.110618504T>C | CA357984038 | PITX2 | c.369A>G (p.Gln123=) c.494A>G (p.Lys165Arg) n.562A>G n.566A>G c.575A>G (p.Lys192Arg) n.638A>G c.596A>G (p.Lys199Arg) n.527A>G c.437A>G (p.Lys146Arg) n.902A>G n.323A>G c.242A>G (p.Lys81Arg) | |
| 4 | g.110618504T>G | CA357984039 | PITX2 | c.369A>C (p.Gln123His) c.494A>C (p.Lys165Thr) n.562A>C n.566A>C c.575A>C (p.Lys192Thr) n.638A>C c.596A>C (p.Lys199Thr) n.527A>C c.437A>C (p.Lys146Thr) n.902A>C n.323A>C c.242A>C (p.Lys81Thr) | |
| 4 | g.110618505T>A | CA357984040 | PITX2 | c.368A>T (p.Gln123Leu) c.493A>T (p.Lys165Ter) n.561A>T n.565A>T c.574A>T (p.Lys192Ter) n.637A>T c.595A>T (p.Lys199Ter) n.526A>T c.436A>T (p.Lys146Ter) n.901A>T n.322A>T c.241A>T (p.Lys81Ter) | |
| 4 | g.110618505T>C | CA357984041 | PITX2 | c.368A>G (p.Gln123Arg) c.493A>G (p.Lys165Glu) n.561A>G n.565A>G c.574A>G (p.Lys192Glu) n.637A>G c.595A>G (p.Lys199Glu) n.526A>G c.436A>G (p.Lys146Glu) n.901A>G n.322A>G c.241A>G (p.Lys81Glu) | |
| 4 | g.110618505T>G | CA357984042 | PITX2 | c.368A>C (p.Gln123Pro) c.493A>C (p.Lys165Gln) n.561A>C n.565A>C c.574A>C (p.Lys192Gln) n.637A>C c.595A>C (p.Lys199Gln) n.526A>C c.436A>C (p.Lys146Gln) n.901A>C n.322A>C c.241A>C (p.Lys81Gln) | |
| 4 | g.110618505_110618506insAATGAAAATAAAGGTTTTAAAGATTTTTCCAATTTAGCTAAAAACTTCAAAGATTTTCACGAGAAGAATAAAGAAAAACCAAAAGATGAATTTGAAAAGACCATTAATGGTAAATTTGGAGAAACAGA | CA2501898299 | PITX2 | c.367_368insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Gln123LeufsTer32) c.492_493insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Lys165SerfsTer24) n.560_561insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT n.564_565insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT c.573_574insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Lys192SerfsTer24) n.636_637insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT c.594_595insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Lys199SerfsTer24) n.525_526insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT c.435_436insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Lys146SerfsTer24) n.900_901insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT n.321_322insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT c.240_241insTCTGTTTCTCCAAATTTACCATTAATGGTCTTTTCAAATTCATCTTTTGGTTTTTCTTTATTCTTCTCGTGAAAATCTTTGAAGTTTTTAGCTAAATTGGAAAAATCTTTAAAACCTTTATTTTCATT (p.Lys81SerfsTer24) | |
| 4 | g.110618506G>A | CA357984043 | PITX2 | c.367C>T (p.Gln123Ter) c.492C>T (p.Thr164=) n.560C>T n.564C>T c.573C>T (p.Thr191=) n.636C>T c.594C>T (p.Thr198=) n.525C>T c.435C>T (p.Thr145=) n.900C>T n.321C>T c.240C>T (p.Thr80=) | |
| 4 | g.110618506G>C | CA3045460 | PITX2 | c.367C>G (p.Gln123Glu) c.492C>G (p.Thr164=) n.560C>G n.564C>G c.573C>G (p.Thr191=) n.636C>G c.594C>G (p.Thr198=) n.525C>G c.435C>G (p.Thr145=) n.900C>G n.321C>G c.240C>G (p.Thr80=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618506G= | CA1485098001 | PITX2 | c.367C= (p.Gln123=) c.492C= (p.Thr164=) n.560C= n.564C= c.573C= (p.Thr191=) n.636C= c.594C= (p.Thr198=) n.525C= c.435C= (p.Thr145=) n.900C= n.321C= c.240C= (p.Thr80=) | |
| 4 | g.110618506G>T | CA357984044 | PITX2 | c.367C>A (p.Gln123Lys) c.492C>A (p.Thr164=) n.560C>A n.564C>A c.573C>A (p.Thr191=) n.636C>A c.594C>A (p.Thr198=) n.525C>A c.435C>A (p.Thr145=) n.900C>A n.321C>A c.240C>A (p.Thr80=) | |
| 4 | g.110618507G>A | CA357984045 | PITX2 | c.366C>T (p.His122=) c.491C>T (p.Thr164Ile) n.559C>T n.563C>T c.572C>T (p.Thr191Ile) n.635C>T c.593C>T (p.Thr198Ile) n.524C>T c.434C>T (p.Thr145Ile) n.899C>T n.320C>T c.239C>T (p.Thr80Ile) | |
| 4 | g.110618507G>C | CA3045461 | PITX2 | c.366C>G (p.His122Gln) c.491C>G (p.Thr164Ser) n.559C>G n.563C>G c.572C>G (p.Thr191Ser) n.635C>G c.593C>G (p.Thr198Ser) n.524C>G c.434C>G (p.Thr145Ser) n.899C>G n.320C>G c.239C>G (p.Thr80Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618507G= | CA1485098005 | PITX2 | c.366C= (p.His122=) c.491C= (p.Thr164=) n.559C= n.563C= c.572C= (p.Thr191=) n.635C= c.593C= (p.Thr198=) n.524C= c.434C= (p.Thr145=) n.899C= n.320C= c.239C= (p.Thr80=) | |
| 4 | g.110618507G>T | CA357984046 | PITX2 | c.366C>A (p.His122Gln) c.491C>A (p.Thr164Asn) n.559C>A n.563C>A c.572C>A (p.Thr191Asn) n.635C>A c.593C>A (p.Thr198Asn) n.524C>A c.434C>A (p.Thr145Asn) n.899C>A n.320C>A c.239C>A (p.Thr80Asn) | |
| 4 | g.110618508T>A | CA357984048 | PITX2 | c.365A>T (p.His122Leu) c.490A>T (p.Thr164Ser) n.558A>T n.562A>T c.571A>T (p.Thr191Ser) n.634A>T c.592A>T (p.Thr198Ser) n.523A>T c.433A>T (p.Thr145Ser) n.898A>T n.319A>T c.238A>T (p.Thr80Ser) | ClinVar dbSNP |
| 4 | g.110618508T>C | CA357984049 | PITX2 | c.365A>G (p.His122Arg) c.490A>G (p.Thr164Ala) n.558A>G n.562A>G c.571A>G (p.Thr191Ala) n.634A>G c.592A>G (p.Thr198Ala) n.523A>G c.433A>G (p.Thr145Ala) n.898A>G n.319A>G c.238A>G (p.Thr80Ala) | |
| 4 | g.110618508T>G | CA357984047 | PITX2 | c.365A>C (p.His122Pro) c.490A>C (p.Thr164Pro) n.558A>C n.562A>C c.571A>C (p.Thr191Pro) n.634A>C c.592A>C (p.Thr198Pro) n.523A>C c.433A>C (p.Thr145Pro) n.898A>C n.319A>C c.238A>C (p.Thr80Pro) | |
| 4 | g.110618509G>A | CA357984050 | PITX2 | c.364C>T (p.His122Tyr) c.489C>T (p.Ser163=) n.557C>T n.561C>T c.570C>T (p.Ser190=) n.633C>T c.591C>T (p.Ser197=) n.522C>T c.432C>T (p.Ser144=) n.897C>T n.318C>T c.237C>T (p.Ser79=) | |
| 4 | g.110618509G>C | CA357984051 | PITX2 | c.364C>G (p.His122Asp) c.489C>G (p.Ser163=) n.557C>G n.561C>G c.570C>G (p.Ser190=) n.633C>G c.591C>G (p.Ser197=) n.522C>G c.432C>G (p.Ser144=) n.897C>G n.318C>G c.237C>G (p.Ser79=) | |
| 4 | g.110618509G>T | CA357984052 | PITX2 | c.364C>A (p.His122Asn) c.489C>A (p.Ser163=) n.557C>A n.561C>A c.570C>A (p.Ser190=) n.633C>A c.591C>A (p.Ser197=) n.522C>A c.432C>A (p.Ser144=) n.897C>A n.318C>A c.237C>A (p.Ser79=) | |
| 4 | g.110618510G>A | CA357984053 | PITX2 | c.363C>T (p.Ile121=) c.488C>T (p.Ser163Phe) n.556C>T n.560C>T c.569C>T (p.Ser190Phe) n.632C>T c.590C>T (p.Ser197Phe) n.521C>T c.431C>T (p.Ser144Phe) n.896C>T n.317C>T c.236C>T (p.Ser79Phe) | |
| 4 | g.110618510G>C | CA357984054 | PITX2 | c.363C>G (p.Ile121Met) c.488C>G (p.Ser163Cys) n.556C>G n.560C>G c.569C>G (p.Ser190Cys) n.632C>G c.590C>G (p.Ser197Cys) n.521C>G c.431C>G (p.Ser144Cys) n.896C>G n.317C>G c.236C>G (p.Ser79Cys) | |
| 4 | g.110618510G>T | CA357984055 | PITX2 | c.363C>A (p.Ile121=) c.488C>A (p.Ser163Tyr) n.556C>A n.560C>A c.569C>A (p.Ser190Tyr) n.632C>A c.590C>A (p.Ser197Tyr) n.521C>A c.431C>A (p.Ser144Tyr) n.896C>A n.317C>A c.236C>A (p.Ser79Tyr) | |
| 4 | g.110618511A>C | CA357984058 | PITX2 | c.362T>G (p.Ile121Ser) c.487T>G (p.Ser163Ala) n.555T>G n.559T>G c.568T>G (p.Ser190Ala) n.631T>G c.589T>G (p.Ser197Ala) n.520T>G c.430T>G (p.Ser144Ala) n.895T>G n.316T>G c.235T>G (p.Ser79Ala) | |
| 4 | g.110618511A>G | CA357984057 | PITX2 | c.362T>C (p.Ile121Thr) c.487T>C (p.Ser163Pro) n.555T>C n.559T>C c.568T>C (p.Ser190Pro) n.631T>C c.589T>C (p.Ser197Pro) n.520T>C c.430T>C (p.Ser144Pro) n.895T>C n.316T>C c.235T>C (p.Ser79Pro) | |
| 4 | g.110618511A>T | CA357984056 | PITX2 | c.362T>A (p.Ile121Asn) c.487T>A (p.Ser163Thr) n.555T>A n.559T>A c.568T>A (p.Ser190Thr) n.631T>A c.589T>A (p.Ser197Thr) n.520T>A c.430T>A (p.Ser144Thr) n.895T>A n.316T>A c.235T>A (p.Ser79Thr) | |
| 4 | g.110618512T>A | CA357984059 | PITX2 | c.361A>T (p.Ile121Phe) c.486A>T (p.Leu162=) n.554A>T n.558A>T c.567A>T (p.Leu189=) n.630A>T c.588A>T (p.Leu196=) n.519A>T c.429A>T (p.Leu143=) n.894A>T n.315A>T c.234A>T (p.Leu78=) | |
| 4 | g.110618512T>C | CA3045463 | PITX2 | c.361A>G (p.Ile121Val) c.486A>G (p.Leu162=) n.554A>G n.558A>G c.567A>G (p.Leu189=) n.630A>G c.588A>G (p.Leu196=) n.519A>G c.429A>G (p.Leu143=) n.894A>G n.315A>G c.234A>G (p.Leu78=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618512T>G | CA3045462 | PITX2 | c.361A>C (p.Ile121Leu) c.486A>C (p.Leu162=) n.554A>C n.558A>C c.567A>C (p.Leu189=) n.630A>C c.588A>C (p.Leu196=) n.519A>C c.429A>C (p.Leu143=) n.894A>C n.315A>C c.234A>C (p.Leu78=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618512T= | CA1485098009 | PITX2 | c.361A= (p.Ile121=) c.486A= (p.Leu162=) n.554A= n.558A= c.567A= (p.Leu189=) n.630A= c.588A= (p.Leu196=) n.519A= c.429A= (p.Leu143=) n.894A= n.315A= c.234A= (p.Leu78=) | |
| 4 | g.110618513A>C | CA357984060 | PITX2 | c.360T>G (p.Pro120=) c.485T>G (p.Leu162Arg) n.553T>G n.557T>G c.566T>G (p.Leu189Arg) n.629T>G c.587T>G (p.Leu196Arg) n.518T>G c.428T>G (p.Leu143Arg) n.893T>G n.314T>G c.233T>G (p.Leu78Arg) | |
| 4 | g.110618513A>G | CA357984061 | PITX2 | c.360T>C (p.Pro120=) c.485T>C (p.Leu162Pro) n.553T>C n.557T>C c.566T>C (p.Leu189Pro) n.629T>C c.587T>C (p.Leu196Pro) n.518T>C c.428T>C (p.Leu143Pro) n.893T>C n.314T>C c.233T>C (p.Leu78Pro) | |
| 4 | g.110618513A>T | CA357984062 | PITX2 | c.360T>A (p.Pro120=) c.485T>A (p.Leu162Gln) n.553T>A n.557T>A c.566T>A (p.Leu189Gln) n.629T>A c.587T>A (p.Leu196Gln) n.518T>A c.428T>A (p.Leu143Gln) n.893T>A n.314T>A c.233T>A (p.Leu78Gln) | COSMIC COSMIC |
| 4 | g.110618514G>A | CA357984063 | PITX2 | c.359C>T (p.Pro120Leu) c.484C>T (p.Leu162=) n.552C>T n.556C>T c.565C>T (p.Leu189=) n.628C>T c.586C>T (p.Leu196=) n.517C>T c.427C>T (p.Leu143=) n.892C>T n.313C>T c.232C>T (p.Leu78=) | |
| 4 | g.110618514G>C | CA3045464 | PITX2 | c.359C>G (p.Pro120Arg) c.484C>G (p.Leu162Val) n.552C>G n.556C>G c.565C>G (p.Leu189Val) n.628C>G c.586C>G (p.Leu196Val) n.517C>G c.427C>G (p.Leu143Val) n.892C>G n.313C>G c.232C>G (p.Leu78Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618514G= | CA1485098012 | PITX2 | c.359C= (p.Pro120=) c.484C= (p.Leu162=) n.552C= n.556C= c.565C= (p.Leu189=) n.628C= c.586C= (p.Leu196=) n.517C= c.427C= (p.Leu143=) n.892C= n.313C= c.232C= (p.Leu78=) | |
| 4 | g.110618514G>T | CA357984064 | PITX2 | c.359C>A (p.Pro120His) c.484C>A (p.Leu162Ile) n.552C>A n.556C>A c.565C>A (p.Leu189Ile) n.628C>A c.586C>A (p.Leu196Ile) n.517C>A c.427C>A (p.Leu143Ile) n.892C>A n.313C>A c.232C>A (p.Leu78Ile) | |
| 4 | g.110618515G>A | CA357984065 | PITX2 | c.358C>T (p.Pro120Ser) c.483C>T (p.Ser161=) n.551C>T n.555C>T c.564C>T (p.Ser188=) n.627C>T c.585C>T (p.Ser195=) n.516C>T c.426C>T (p.Ser142=) n.891C>T n.312C>T c.231C>T (p.Ser77=) | |
| 4 | g.110618515G>C | CA357984066 | PITX2 | c.358C>G (p.Pro120Ala) c.483C>G (p.Ser161=) n.551C>G n.555C>G c.564C>G (p.Ser188=) n.627C>G c.585C>G (p.Ser195=) n.516C>G c.426C>G (p.Ser142=) n.891C>G n.312C>G c.231C>G (p.Ser77=) | |
| 4 | g.110618515G>T | CA357984067 | PITX2 | c.358C>A (p.Pro120Thr) c.483C>A (p.Ser161=) n.551C>A n.555C>A c.564C>A (p.Ser188=) n.627C>A c.585C>A (p.Ser195=) n.516C>A c.426C>A (p.Ser142=) n.891C>A n.312C>A c.231C>A (p.Ser77=) | |
| 4 | g.110618516G>A | CA357984068 | PITX2 | c.357C>T (p.Leu119=) c.482C>T (p.Ser161Phe) n.550C>T n.554C>T c.563C>T (p.Ser188Phe) n.626C>T c.584C>T (p.Ser195Phe) n.515C>T c.425C>T (p.Ser142Phe) n.890C>T n.311C>T c.230C>T (p.Ser77Phe) | |
| 4 | g.110618516G>C | CA357984069 | PITX2 | c.357C>G (p.Leu119=) c.482C>G (p.Ser161Cys) n.550C>G n.554C>G c.563C>G (p.Ser188Cys) n.626C>G c.584C>G (p.Ser195Cys) n.515C>G c.425C>G (p.Ser142Cys) n.890C>G n.311C>G c.230C>G (p.Ser77Cys) | gnomAD v4 |
| 4 | g.110618516G>T | CA357984070 | PITX2 | c.357C>A (p.Leu119=) c.482C>A (p.Ser161Tyr) n.550C>A n.554C>A c.563C>A (p.Ser188Tyr) n.626C>A c.584C>A (p.Ser195Tyr) n.515C>A c.425C>A (p.Ser142Tyr) n.890C>A n.311C>A c.230C>A (p.Ser77Tyr) | |
| 4 | g.110618517A>C | CA357984071 | PITX2 | c.356T>G (p.Leu119Arg) c.481T>G (p.Ser161Ala) n.549T>G n.553T>G c.562T>G (p.Ser188Ala) n.625T>G c.583T>G (p.Ser195Ala) n.514T>G c.424T>G (p.Ser142Ala) n.889T>G n.310T>G c.229T>G (p.Ser77Ala) | |
| 4 | g.110618517A>G | CA357984072 | PITX2 | c.356T>C (p.Leu119Pro) c.481T>C (p.Ser161Pro) n.549T>C n.553T>C c.562T>C (p.Ser188Pro) n.625T>C c.583T>C (p.Ser195Pro) n.514T>C c.424T>C (p.Ser142Pro) n.889T>C n.310T>C c.229T>C (p.Ser77Pro) | |
| 4 | g.110618517A>T | CA357984073 | PITX2 | c.356T>A (p.Leu119His) c.481T>A (p.Ser161Thr) n.549T>A n.553T>A c.562T>A (p.Ser188Thr) n.625T>A c.583T>A (p.Ser195Thr) n.514T>A c.424T>A (p.Ser142Thr) n.889T>A n.310T>A c.229T>A (p.Ser77Thr) | |
| 4 | g.110618518G>A | CA357984074 | PITX2 | c.355C>T (p.Leu119Phe) c.480C>T (p.Ala160=) n.548C>T n.552C>T c.561C>T (p.Ala187=) n.624C>T c.582C>T (p.Ala194=) n.513C>T c.423C>T (p.Ala141=) n.888C>T n.309C>T c.228C>T (p.Ala76=) | |
| 4 | g.110618518G>C | CA357984075 | PITX2 | c.355C>G (p.Leu119Val) c.480C>G (p.Ala160=) n.548C>G n.552C>G c.561C>G (p.Ala187=) n.624C>G c.582C>G (p.Ala194=) n.513C>G c.423C>G (p.Ala141=) n.888C>G n.309C>G c.228C>G (p.Ala76=) | |
| 4 | g.110618518G>T | CA357984076 | PITX2 | c.355C>A (p.Leu119Ile) c.480C>A (p.Ala160=) n.548C>A n.552C>A c.561C>A (p.Ala187=) n.624C>A c.582C>A (p.Ala194=) n.513C>A c.423C>A (p.Ala141=) n.888C>A n.309C>A c.228C>A (p.Ala76=) | |
| 4 | g.110618519G>A | CA357984077 | PITX2 | c.354C>T (p.Arg118=) c.479C>T (p.Ala160Val) n.547C>T n.551C>T c.560C>T (p.Ala187Val) n.623C>T c.581C>T (p.Ala194Val) n.512C>T c.422C>T (p.Ala141Val) n.887C>T n.308C>T c.227C>T (p.Ala76Val) | |
| 4 | g.110618519G>C | CA357984079 | PITX2 | c.354C>G (p.Arg118=) c.479C>G (p.Ala160Gly) n.547C>G n.551C>G c.560C>G (p.Ala187Gly) n.623C>G c.581C>G (p.Ala194Gly) n.512C>G c.422C>G (p.Ala141Gly) n.887C>G n.308C>G c.227C>G (p.Ala76Gly) | |
| 4 | g.110618519G>T | CA357984078 | PITX2 | c.354C>A (p.Arg118=) c.479C>A (p.Ala160Asp) n.547C>A n.551C>A c.560C>A (p.Ala187Asp) n.623C>A c.581C>A (p.Ala194Asp) n.512C>A c.422C>A (p.Ala141Asp) n.887C>A n.308C>A c.227C>A (p.Ala76Asp) | |
| 4 | g.110618520C>A | CA357984080 | PITX2 | c.353G>T (p.Arg118Leu) c.478G>T (p.Ala160Ser) n.546G>T n.550G>T c.559G>T (p.Ala187Ser) n.622G>T c.580G>T (p.Ala194Ser) n.511G>T c.421G>T (p.Ala141Ser) n.886G>T n.307G>T c.226G>T (p.Ala76Ser) | dbSNP gnomAD v4 |
| 4 | g.110618520C= | CA1485098019 | PITX2 | c.353G= (p.Arg118=) c.478G= (p.Ala160=) n.546G= n.550G= c.559G= (p.Ala187=) n.622G= c.580G= (p.Ala194=) n.511G= c.421G= (p.Ala141=) n.886G= n.307G= c.226G= (p.Ala76=) | |
| 4 | g.110618520C>G | CA357984081 | PITX2 | c.353G>C (p.Arg118Pro) c.478G>C (p.Ala160Pro) n.546G>C n.550G>C c.559G>C (p.Ala187Pro) n.622G>C c.580G>C (p.Ala194Pro) n.511G>C c.421G>C (p.Ala141Pro) n.886G>C n.307G>C c.226G>C (p.Ala76Pro) | |
| 4 | g.110618520C>T | CA174364 | PITX2 | c.353G>A (p.Arg118His) c.478G>A (p.Ala160Thr) n.546G>A n.550G>A c.559G>A (p.Ala187Thr) n.622G>A c.580G>A (p.Ala194Thr) n.511G>A c.421G>A (p.Ala141Thr) n.886G>A n.307G>A c.226G>A (p.Ala76Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 4 | g.110618521G>A | CA357984082 | PITX2 | c.352C>T (p.Arg118Cys) c.477C>T (p.Ser159=) n.545C>T n.549C>T c.558C>T (p.Ser186=) n.621C>T c.579C>T (p.Ser193=) n.510C>T c.420C>T (p.Ser140=) n.885C>T n.306C>T c.225C>T (p.Ser75=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618521G>C | CA357984083 | PITX2 | c.352C>G (p.Arg118Gly) c.477C>G (p.Ser159=) n.545C>G n.549C>G c.558C>G (p.Ser186=) n.621C>G c.579C>G (p.Ser193=) n.510C>G c.420C>G (p.Ser140=) n.885C>G n.306C>G c.225C>G (p.Ser75=) | gnomAD v4 |
| 4 | g.110618521G= | CA1485098029 | PITX2 | c.352C= (p.Arg118=) c.477C= (p.Ser159=) n.545C= n.549C= c.558C= (p.Ser186=) n.621C= c.579C= (p.Ser193=) n.510C= c.420C= (p.Ser140=) n.885C= n.306C= c.225C= (p.Ser75=) | |
| 4 | g.110618521G>T | CA357984084 | PITX2 | c.352C>A (p.Arg118Ser) c.477C>A (p.Ser159=) n.545C>A n.549C>A c.558C>A (p.Ser186=) n.621C>A c.579C>A (p.Ser193=) n.510C>A c.420C>A (p.Ser140=) n.885C>A n.306C>A c.225C>A (p.Ser75=) | |
| 4 | g.110618522G>A | CA357984085 | PITX2 | c.351C>T (p.Ile117=) c.476C>T (p.Ser159Phe) n.544C>T n.548C>T c.557C>T (p.Ser186Phe) n.620C>T c.578C>T (p.Ser193Phe) n.509C>T c.419C>T (p.Ser140Phe) n.884C>T n.305C>T c.224C>T (p.Ser75Phe) | |
| 4 | g.110618522G>C | CA357984086 | PITX2 | c.351C>G (p.Ile117Met) c.476C>G (p.Ser159Cys) n.544C>G n.548C>G c.557C>G (p.Ser186Cys) n.620C>G c.578C>G (p.Ser193Cys) n.509C>G c.419C>G (p.Ser140Cys) n.884C>G n.305C>G c.224C>G (p.Ser75Cys) | |
| 4 | g.110618522G>T | CA357984087 | PITX2 | c.351C>A (p.Ile117=) c.476C>A (p.Ser159Tyr) n.544C>A n.548C>A c.557C>A (p.Ser186Tyr) n.620C>A c.578C>A (p.Ser193Tyr) n.509C>A c.419C>A (p.Ser140Tyr) n.884C>A n.305C>A c.224C>A (p.Ser75Tyr) | |
| 4 | g.110618523A>C | CA357984088 | PITX2 | c.350T>G (p.Ile117Ser) c.475T>G (p.Ser159Ala) n.543T>G n.547T>G c.556T>G (p.Ser186Ala) n.619T>G c.577T>G (p.Ser193Ala) n.508T>G c.418T>G (p.Ser140Ala) n.883T>G n.304T>G c.223T>G (p.Ser75Ala) | |
| 4 | g.110618523A>G | CA357984089 | PITX2 | c.350T>C (p.Ile117Thr) c.475T>C (p.Ser159Pro) n.543T>C n.547T>C c.556T>C (p.Ser186Pro) n.619T>C c.577T>C (p.Ser193Pro) n.508T>C c.418T>C (p.Ser140Pro) n.883T>C n.304T>C c.223T>C (p.Ser75Pro) | |
| 4 | g.110618523A>T | CA357984090 | PITX2 | c.350T>A (p.Ile117Asn) c.475T>A (p.Ser159Thr) n.543T>A n.547T>A c.556T>A (p.Ser186Thr) n.619T>A c.577T>A (p.Ser193Thr) n.508T>A c.418T>A (p.Ser140Thr) n.883T>A n.304T>A c.223T>A (p.Ser75Thr) | |
| 4 | g.110618524T>A | CA3045465 | PITX2 | c.349A>T (p.Ile117Phe) c.474A>T (p.Thr158=) n.542A>T n.546A>T c.555A>T (p.Thr185=) n.618A>T c.576A>T (p.Thr192=) n.507A>T c.417A>T (p.Thr139=) n.882A>T n.303A>T c.222A>T (p.Thr74=) | dbSNP ExAC gnomAD v4 |
| 4 | g.110618524T>C | CA357984092 | PITX2 | c.349A>G (p.Ile117Val) c.474A>G (p.Thr158=) n.542A>G n.546A>G c.555A>G (p.Thr185=) n.618A>G c.576A>G (p.Thr192=) n.507A>G c.417A>G (p.Thr139=) n.882A>G n.303A>G c.222A>G (p.Thr74=) | |
| 4 | g.110618524T>G | CA357984091 | PITX2 | c.349A>C (p.Ile117Leu) c.474A>C (p.Thr158=) n.542A>C n.546A>C c.555A>C (p.Thr185=) n.618A>C c.576A>C (p.Thr192=) n.507A>C c.417A>C (p.Thr139=) n.882A>C n.303A>C c.222A>C (p.Thr74=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.110618524T= | CA1485098034 | PITX2 | c.349A= (p.Ile117=) c.474A= (p.Thr158=) n.542A= n.546A= c.555A= (p.Thr185=) n.618A= c.576A= (p.Thr192=) n.507A= c.417A= (p.Thr139=) n.882A= n.303A= c.222A= (p.Thr74=) | |
| 4 | g.110618525del | CA2695203770 | PITX2 | c.348del (p.Tyr116Ter) c.473del (p.Thr158AsnfsTer16) n.541del n.545del c.554del (p.Thr185AsnfsTer16) n.617del c.575del (p.Thr192AsnfsTer16) n.506del c.416del (p.Thr139AsnfsTer16) n.881del n.302del c.221del (p.Thr74AsnfsTer16) | |
| 4 | g.110618525G>A | CA357984093 | PITX2 | c.348C>T (p.Tyr116=) c.473C>T (p.Thr158Ile) n.541C>T n.545C>T c.554C>T (p.Thr185Ile) n.617C>T c.575C>T (p.Thr192Ile) n.506C>T c.416C>T (p.Thr139Ile) n.881C>T n.302C>T c.221C>T (p.Thr74Ile) | |
| 4 | g.110618525G>C | CA357984094 | PITX2 | c.348C>G (p.Tyr116Ter) c.473C>G (p.Thr158Arg) n.541C>G n.545C>G c.554C>G (p.Thr185Arg) n.617C>G c.575C>G (p.Thr192Arg) n.506C>G c.416C>G (p.Thr139Arg) n.881C>G n.302C>G c.221C>G (p.Thr74Arg) | |
| 4 | g.110618525G>T | CA357984095 | PITX2 | c.348C>A (p.Tyr116Ter) c.473C>A (p.Thr158Lys) n.541C>A n.545C>A c.554C>A (p.Thr185Lys) n.617C>A c.575C>A (p.Thr192Lys) n.506C>A c.416C>A (p.Thr139Lys) n.881C>A n.302C>A c.221C>A (p.Thr74Lys) | |
| 4 | g.110618526T>A | CA357984096 | PITX2 | c.347A>T (p.Tyr116Phe) c.472A>T (p.Thr158Ser) n.540A>T n.544A>T c.553A>T (p.Thr185Ser) n.616A>T c.574A>T (p.Thr192Ser) n.505A>T c.415A>T (p.Thr139Ser) n.880A>T n.301A>T c.220A>T (p.Thr74Ser) | |
| 4 | g.110618526T>C | CA357984097 | PITX2 | c.347A>G (p.Tyr116Cys) c.472A>G (p.Thr158Ala) n.540A>G n.544A>G c.553A>G (p.Thr185Ala) n.616A>G c.574A>G (p.Thr192Ala) n.505A>G c.415A>G (p.Thr139Ala) n.880A>G n.301A>G c.220A>G (p.Thr74Ala) | |
| 4 | g.110618526T>G | CA357984098 | PITX2 | c.347A>C (p.Tyr116Ser) c.472A>C (p.Thr158Pro) n.540A>C n.544A>C c.553A>C (p.Thr185Pro) n.616A>C c.574A>C (p.Thr192Pro) n.505A>C c.415A>C (p.Thr139Pro) n.880A>C n.301A>C c.220A>C (p.Thr74Pro) | |
| 4 | g.110618527A= | CA1485098037 | PITX2 | c.346T= (p.Tyr116=) c.471T= (p.Leu157=) n.539T= n.543T= c.552T= (p.Leu184=) n.615T= c.573T= (p.Leu191=) n.504T= c.414T= (p.Leu138=) n.879T= n.300T= c.219T= (p.Leu73=) | |
| 4 | g.110618527A>C | CA357984099 | PITX2 | c.346T>G (p.Tyr116Asp) c.471T>G (p.Leu157=) n.539T>G n.543T>G c.552T>G (p.Leu184=) n.615T>G c.573T>G (p.Leu191=) n.504T>G c.414T>G (p.Leu138=) n.879T>G n.300T>G c.219T>G (p.Leu73=) | |
| 4 | g.110618527A>G | CA3045466 | PITX2 | c.346T>C (p.Tyr116His) c.471T>C (p.Leu157=) n.539T>C n.543T>C c.552T>C (p.Leu184=) n.615T>C c.573T>C (p.Leu191=) n.504T>C c.414T>C (p.Leu138=) n.879T>C n.300T>C c.219T>C (p.Leu73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618527A>T | CA357984100 | PITX2 | c.346T>A (p.Tyr116Asn) c.471T>A (p.Leu157=) n.539T>A n.543T>A c.552T>A (p.Leu184=) n.615T>A c.573T>A (p.Leu191=) n.504T>A c.414T>A (p.Leu138=) n.879T>A n.300T>A c.219T>A (p.Leu73=) | gnomAD v4 |
| 4 | g.110618528A>C | CA357984101 | PITX2 | c.345T>G (p.Pro115=) c.470T>G (p.Leu157Arg) n.538T>G n.542T>G c.551T>G (p.Leu184Arg) n.614T>G c.572T>G (p.Leu191Arg) n.503T>G c.413T>G (p.Leu138Arg) n.878T>G n.299T>G c.218T>G (p.Leu73Arg) | |
| 4 | g.110618528A>G | CA357984102 | PITX2 | c.345T>C (p.Pro115=) c.470T>C (p.Leu157Pro) n.538T>C n.542T>C c.551T>C (p.Leu184Pro) n.614T>C c.572T>C (p.Leu191Pro) n.503T>C c.413T>C (p.Leu138Pro) n.878T>C n.299T>C c.218T>C (p.Leu73Pro) | |
| 4 | g.110618528A>T | CA357984103 | PITX2 | c.345T>A (p.Pro115=) c.470T>A (p.Leu157His) n.538T>A n.542T>A c.551T>A (p.Leu184His) n.614T>A c.572T>A (p.Leu191His) n.503T>A c.413T>A (p.Leu138His) n.878T>A n.299T>A c.218T>A (p.Leu73His) | |
| 4 | g.110618529G>A | CA357984106 | PITX2 | c.344C>T (p.Pro115Leu) c.469C>T (p.Leu157Phe) n.537C>T n.541C>T c.550C>T (p.Leu184Phe) n.613C>T c.571C>T (p.Leu191Phe) n.502C>T c.412C>T (p.Leu138Phe) n.877C>T n.298C>T c.217C>T (p.Leu73Phe) | gnomAD v4 |
| 4 | g.110618529G>C | CA357984104 | PITX2 | c.344C>G (p.Pro115Arg) c.469C>G (p.Leu157Val) n.537C>G n.541C>G c.550C>G (p.Leu184Val) n.613C>G c.571C>G (p.Leu191Val) n.502C>G c.412C>G (p.Leu138Val) n.877C>G n.298C>G c.217C>G (p.Leu73Val) | |
| 4 | g.110618529G>T | CA357984105 | PITX2 | c.344C>A (p.Pro115His) c.469C>A (p.Leu157Ile) n.537C>A n.541C>A c.550C>A (p.Leu184Ile) n.613C>A c.571C>A (p.Leu191Ile) n.502C>A c.412C>A (p.Leu138Ile) n.877C>A n.298C>A c.217C>A (p.Leu73Ile) | COSMIC COSMIC |
| 4 | g.110618530G>A | CA3045467 | PITX2 | c.343C>T (p.Pro115Ser) c.468C>T (p.Gly156=) n.536C>T n.540C>T c.549C>T (p.Gly183=) n.612C>T c.570C>T (p.Gly190=) n.501C>T c.411C>T (p.Gly137=) n.876C>T n.297C>T c.216C>T (p.Gly72=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618530G>C | CA357984107 | PITX2 | c.343C>G (p.Pro115Ala) c.468C>G (p.Gly156=) n.536C>G n.540C>G c.549C>G (p.Gly183=) n.612C>G c.570C>G (p.Gly190=) n.501C>G c.411C>G (p.Gly137=) n.876C>G n.297C>G c.216C>G (p.Gly72=) | |
| 4 | g.110618530G= | CA1485098040 | PITX2 | c.343C= (p.Pro115=) c.468C= (p.Gly156=) n.536C= n.540C= c.549C= (p.Gly183=) n.612C= c.570C= (p.Gly190=) n.501C= c.411C= (p.Gly137=) n.876C= n.297C= c.216C= (p.Gly72=) | |
| 4 | g.110618530G>T | CA357984108 | PITX2 | c.343C>A (p.Pro115Thr) c.468C>A (p.Gly156=) n.536C>A n.540C>A c.549C>A (p.Gly183=) n.612C>A c.570C>A (p.Gly190=) n.501C>A c.411C>A (p.Gly137=) n.876C>A n.297C>A c.216C>A (p.Gly72=) | |
| 4 | g.110618531C>A | CA357984109 | PITX2 | c.342G>T (p.Gly114=) c.467G>T (p.Gly156Val) n.535G>T n.539G>T c.548G>T (p.Gly183Val) n.611G>T c.569G>T (p.Gly190Val) n.500G>T c.410G>T (p.Gly137Val) n.875G>T n.296G>T c.215G>T (p.Gly72Val) | |
| 4 | g.110618531C>G | CA357984110 | PITX2 | c.342G>C (p.Gly114=) c.467G>C (p.Gly156Ala) n.535G>C n.539G>C c.548G>C (p.Gly183Ala) n.611G>C c.569G>C (p.Gly190Ala) n.500G>C c.410G>C (p.Gly137Ala) n.875G>C n.296G>C c.215G>C (p.Gly72Ala) | |
| 4 | g.110618531C>T | CA357984111 | PITX2 | c.342G>A (p.Gly114=) c.467G>A (p.Gly156Asp) n.535G>A n.539G>A c.548G>A (p.Gly183Asp) n.611G>A c.569G>A (p.Gly190Asp) n.500G>A c.410G>A (p.Gly137Asp) n.875G>A n.296G>A c.215G>A (p.Gly72Asp) | |
| 4 | g.110618532C>A | CA357984114 | PITX2 | c.341G>T (p.Gly114Val) c.466G>T (p.Gly156Cys) n.534G>T n.538G>T c.547G>T (p.Gly183Cys) n.610G>T c.568G>T (p.Gly190Cys) n.499G>T c.409G>T (p.Gly137Cys) n.874G>T n.295G>T c.214G>T (p.Gly72Cys) | |
| 4 | g.110618532C>G | CA357984113 | PITX2 | c.341G>C (p.Gly114Ala) c.466G>C (p.Gly156Arg) n.534G>C n.538G>C c.547G>C (p.Gly183Arg) n.610G>C c.568G>C (p.Gly190Arg) n.499G>C c.409G>C (p.Gly137Arg) n.874G>C n.295G>C c.214G>C (p.Gly72Arg) | |
| 4 | g.110618532C>T | CA357984112 | PITX2 | c.341G>A (p.Gly114Glu) c.466G>A (p.Gly156Ser) n.534G>A n.538G>A c.547G>A (p.Gly183Ser) n.610G>A c.568G>A (p.Gly190Ser) n.499G>A c.409G>A (p.Gly137Ser) n.874G>A n.295G>A c.214G>A (p.Gly72Ser) | |
| 4 | g.110618533C>A | CA357984115 | PITX2 | c.340G>T (p.Gly114Trp) c.465G>T (p.Lys155Asn) n.533G>T n.537G>T c.546G>T (p.Lys182Asn) n.609G>T c.567G>T (p.Lys189Asn) n.498G>T c.408G>T (p.Lys136Asn) n.873G>T n.294G>T c.213G>T (p.Lys71Asn) | |
| 4 | g.110618533C= | CA1485098044 | PITX2 | c.340G= (p.Gly114=) c.465G= (p.Lys155=) n.533G= n.537G= c.546G= (p.Lys182=) n.609G= c.567G= (p.Lys189=) n.498G= c.408G= (p.Lys136=) n.873G= n.294G= c.213G= (p.Lys71=) | |
| 4 | g.110618533C>G | CA357984116 | PITX2 | c.340G>C (p.Gly114Arg) c.465G>C (p.Lys155Asn) n.533G>C n.537G>C c.546G>C (p.Lys182Asn) n.609G>C c.567G>C (p.Lys189Asn) n.498G>C c.408G>C (p.Lys136Asn) n.873G>C n.294G>C c.213G>C (p.Lys71Asn) | |
| 4 | g.110618533C>T | CA3045468 | PITX2 | c.340G>A (p.Gly114Arg) c.465G>A (p.Lys155=) n.533G>A n.537G>A c.546G>A (p.Lys182=) n.609G>A c.567G>A (p.Lys189=) n.498G>A c.408G>A (p.Lys136=) n.873G>A n.294G>A c.213G>A (p.Lys71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618534T>A | CA357984117 | PITX2 | c.339A>T (p.Gln113His) c.464A>T (p.Lys155Met) n.532A>T n.536A>T c.545A>T (p.Lys182Met) n.608A>T c.566A>T (p.Lys189Met) n.497A>T c.407A>T (p.Lys136Met) n.872A>T n.293A>T c.212A>T (p.Lys71Met) | |
| 4 | g.110618534T>C | CA357984118 | PITX2 | c.339A>G (p.Gln113=) c.464A>G (p.Lys155Arg) n.532A>G n.536A>G c.545A>G (p.Lys182Arg) n.608A>G c.566A>G (p.Lys189Arg) n.497A>G c.407A>G (p.Lys136Arg) n.872A>G n.293A>G c.212A>G (p.Lys71Arg) | |
| 4 | g.110618534T>G | CA357984119 | PITX2 | c.339A>C (p.Gln113His) c.464A>C (p.Lys155Thr) n.532A>C n.536A>C c.545A>C (p.Lys182Thr) n.608A>C c.566A>C (p.Lys189Thr) n.497A>C c.407A>C (p.Lys136Thr) n.872A>C n.293A>C c.212A>C (p.Lys71Thr) | |
| 4 | g.110618535T>A | CA357984120 | PITX2 | c.338A>T (p.Gln113Leu) c.463A>T (p.Lys155Ter) n.531A>T n.535A>T c.544A>T (p.Lys182Ter) n.607A>T c.565A>T (p.Lys189Ter) n.496A>T c.406A>T (p.Lys136Ter) n.871A>T n.292A>T c.211A>T (p.Lys71Ter) | |
| 4 | g.110618535T>C | CA357984122 | PITX2 | c.338A>G (p.Gln113Arg) c.463A>G (p.Lys155Glu) n.531A>G n.535A>G c.544A>G (p.Lys182Glu) n.607A>G c.565A>G (p.Lys189Glu) n.496A>G c.406A>G (p.Lys136Glu) n.871A>G n.292A>G c.211A>G (p.Lys71Glu) | |
| 4 | g.110618535T>G | CA357984121 | PITX2 | c.338A>C (p.Gln113Pro) c.463A>C (p.Lys155Gln) n.531A>C n.535A>C c.544A>C (p.Lys182Gln) n.607A>C c.565A>C (p.Lys189Gln) n.496A>C c.406A>C (p.Lys136Gln) n.871A>C n.292A>C c.211A>C (p.Lys71Gln) | |
| 4 | g.110618536G>A | CA357984123 | PITX2 | c.337C>T (p.Gln113Ter) c.462C>T (p.Ala154=) n.530C>T n.534C>T c.543C>T (p.Ala181=) n.606C>T c.564C>T (p.Ala188=) n.495C>T c.405C>T (p.Ala135=) n.870C>T n.291C>T c.210C>T (p.Ala70=) | |
| 4 | g.110618536G>C | CA357984124 | PITX2 | c.337C>G (p.Gln113Glu) c.462C>G (p.Ala154=) n.530C>G n.534C>G c.543C>G (p.Ala181=) n.606C>G c.564C>G (p.Ala188=) n.495C>G c.405C>G (p.Ala135=) n.870C>G n.291C>G c.210C>G (p.Ala70=) | |
| 4 | g.110618536G= | CA1485098049 | PITX2 | c.337C= (p.Gln113=) c.462C= (p.Ala154=) n.530C= n.534C= c.543C= (p.Ala181=) n.606C= c.564C= (p.Ala188=) n.495C= c.405C= (p.Ala135=) n.870C= n.291C= c.210C= (p.Ala70=) | |
| 4 | g.110618536G>T | CA104044405 | PITX2 | c.337C>A (p.Gln113Lys) c.462C>A (p.Ala154=) n.530C>A n.534C>A c.543C>A (p.Ala181=) n.606C>A c.564C>A (p.Ala188=) n.495C>A c.405C>A (p.Ala135=) n.870C>A n.291C>A c.210C>A (p.Ala70=) | dbSNP gnomAD v4 |
| 4 | g.110618537G>A | CA357984125 | PITX2 | c.336C>T (p.Arg112=) c.461C>T (p.Ala154Val) n.529C>T n.533C>T c.542C>T (p.Ala181Val) n.605C>T c.563C>T (p.Ala188Val) n.494C>T c.404C>T (p.Ala135Val) n.869C>T n.290C>T c.209C>T (p.Ala70Val) | dbSNP |
| 4 | g.110618537G>C | CA357984126 | PITX2 | c.336C>G (p.Arg112=) c.461C>G (p.Ala154Gly) n.529C>G n.533C>G c.542C>G (p.Ala181Gly) n.605C>G c.563C>G (p.Ala188Gly) n.494C>G c.404C>G (p.Ala135Gly) n.869C>G n.290C>G c.209C>G (p.Ala70Gly) | |
| 4 | g.110618537G>T | CA357984127 | PITX2 | c.336C>A (p.Arg112=) c.461C>A (p.Ala154Asp) n.529C>A n.533C>A c.542C>A (p.Ala181Asp) n.605C>A c.563C>A (p.Ala188Asp) n.494C>A c.404C>A (p.Ala135Asp) n.869C>A n.290C>A c.209C>A (p.Ala70Asp) | gnomAD v4 |
| 4 | g.110618538C>A | CA357984128 | PITX2 | c.335G>T (p.Arg112Leu) c.460G>T (p.Ala154Ser) n.528G>T n.532G>T c.541G>T (p.Ala181Ser) n.604G>T c.562G>T (p.Ala188Ser) n.493G>T c.403G>T (p.Ala135Ser) n.868G>T n.289G>T c.208G>T (p.Ala70Ser) | dbSNP gnomAD v4 |
| 4 | g.110618538C= | CA1485098062 | PITX2 | c.335G= (p.Arg112=) c.460G= (p.Ala154=) n.528G= n.532G= c.541G= (p.Ala181=) n.604G= c.562G= (p.Ala188=) n.493G= c.403G= (p.Ala135=) n.868G= n.289G= c.208G= (p.Ala70=) | |
| 4 | g.110618538C>G | CA357984129 | PITX2 | c.335G>C (p.Arg112Pro) c.460G>C (p.Ala154Pro) n.528G>C n.532G>C c.541G>C (p.Ala181Pro) n.604G>C c.562G>C (p.Ala188Pro) n.493G>C c.403G>C (p.Ala135Pro) n.868G>C n.289G>C c.208G>C (p.Ala70Pro) | |
| 4 | g.110618538C>T | CA203139 | PITX2 | c.335G>A (p.Arg112His) c.460G>A (p.Ala154Thr) n.528G>A n.532G>A c.541G>A (p.Ala181Thr) n.604G>A c.562G>A (p.Ala188Thr) n.493G>A c.403G>A (p.Ala135Thr) n.868G>A n.289G>A c.208G>A (p.Ala70Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618539G>A | CA357984130 | PITX2 | c.334C>T (p.Arg112Cys) c.459C>T (p.Ala153=) n.527C>T n.531C>T c.540C>T (p.Ala180=) n.603C>T c.561C>T (p.Ala187=) n.492C>T c.402C>T (p.Ala134=) n.867C>T n.288C>T c.207C>T (p.Ala69=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.110618539G>C | CA357984131 | PITX2 | c.334C>G (p.Arg112Gly) c.459C>G (p.Ala153=) n.527C>G n.531C>G c.540C>G (p.Ala180=) n.603C>G c.561C>G (p.Ala187=) n.492C>G c.402C>G (p.Ala134=) n.867C>G n.288C>G c.207C>G (p.Ala69=) | |
| 4 | g.110618539G= | CA1485098067 | PITX2 | c.334C= (p.Arg112=) c.459C= (p.Ala153=) n.527C= n.531C= c.540C= (p.Ala180=) n.603C= c.561C= (p.Ala187=) n.492C= c.402C= (p.Ala134=) n.867C= n.288C= c.207C= (p.Ala69=) | |
| 4 | g.110618539G>T | CA357984132 | PITX2 | c.334C>A (p.Arg112Ser) c.459C>A (p.Ala153=) n.527C>A n.531C>A c.540C>A (p.Ala180=) n.603C>A c.561C>A (p.Ala187=) n.492C>A c.402C>A (p.Ala134=) n.867C>A n.288C>A c.207C>A (p.Ala69=) | |
| 4 | g.110618540G>A | CA357984135 | PITX2 | c.333C>T (p.Gly111=) c.458C>T (p.Ala153Val) n.526C>T n.530C>T c.539C>T (p.Ala180Val) n.602C>T c.560C>T (p.Ala187Val) n.491C>T c.401C>T (p.Ala134Val) n.866C>T n.287C>T c.206C>T (p.Ala69Val) | |
| 4 | g.110618540G>C | CA357984133 | PITX2 | c.333C>G (p.Gly111=) c.458C>G (p.Ala153Gly) n.526C>G n.530C>G c.539C>G (p.Ala180Gly) n.602C>G c.560C>G (p.Ala187Gly) n.491C>G c.401C>G (p.Ala134Gly) n.866C>G n.287C>G c.206C>G (p.Ala69Gly) | |
| 4 | g.110618540G>T | CA357984134 | PITX2 | c.333C>A (p.Gly111=) c.458C>A (p.Ala153Asp) n.526C>A n.530C>A c.539C>A (p.Ala180Asp) n.602C>A c.560C>A (p.Ala187Asp) n.491C>A c.401C>A (p.Ala134Asp) n.866C>A n.287C>A c.206C>A (p.Ala69Asp) | |
| 4 | g.110618541C>A | CA357984136 | PITX2 | c.332G>T (p.Gly111Val) c.457G>T (p.Ala153Ser) n.525G>T n.529G>T c.538G>T (p.Ala180Ser) n.601G>T c.559G>T (p.Ala187Ser) n.490G>T c.400G>T (p.Ala134Ser) n.865G>T n.286G>T c.205G>T (p.Ala69Ser) | |
| 4 | g.110618541C= | CA1485098071 | PITX2 | c.332G= (p.Gly111=) c.457G= (p.Ala153=) n.525G= n.529G= c.538G= (p.Ala180=) n.601G= c.559G= (p.Ala187=) n.490G= c.400G= (p.Ala134=) n.865G= n.286G= c.205G= (p.Ala69=) | |
| 4 | g.110618541C>G | CA357984137 | PITX2 | c.332G>C (p.Gly111Ala) c.457G>C (p.Ala153Pro) n.525G>C n.529G>C c.538G>C (p.Ala180Pro) n.601G>C c.559G>C (p.Ala187Pro) n.490G>C c.400G>C (p.Ala134Pro) n.865G>C n.286G>C c.205G>C (p.Ala69Pro) | |
| 4 | g.110618541C>T | CA357984138 | PITX2 | c.332G>A (p.Gly111Asp) c.457G>A (p.Ala153Thr) n.525G>A n.529G>A c.538G>A (p.Ala180Thr) n.601G>A c.559G>A (p.Ala187Thr) n.490G>A c.400G>A (p.Ala134Thr) n.865G>A n.286G>A c.205G>A (p.Ala69Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.110618543del | CA2580617619 | PITX2 | c.332del (p.Gly111AlafsTer?) c.457del (p.Ala153ProfsTer21) n.525del n.529del c.538del (p.Ala180ProfsTer21) n.601del c.559del (p.Ala187ProfsTer21) n.490del c.400del (p.Ala134ProfsTer21) n.865del n.286del c.205del (p.Ala69ProfsTer21) | ClinVar |
| 4 | g.110618542C>A | CA357984139 | PITX2 | c.331G>T (p.Gly111Cys) c.456G>T (p.Trp152Cys) n.524G>T n.528G>T c.537G>T (p.Trp179Cys) n.600G>T c.558G>T (p.Trp186Cys) n.489G>T c.399G>T (p.Trp133Cys) n.864G>T n.285G>T c.204G>T (p.Trp68Cys) | |
| 4 | g.110618542C= | CA1485098075 | PITX2 | c.331G= (p.Gly111=) c.456G= (p.Trp152=) n.524G= n.528G= c.537G= (p.Trp179=) n.600G= c.558G= (p.Trp186=) n.489G= c.399G= (p.Trp133=) n.864G= n.285G= c.204G= (p.Trp68=) | |
| 4 | g.110618542C>G | CA357984140 | PITX2 | c.331G>C (p.Gly111Arg) c.456G>C (p.Trp152Cys) n.524G>C n.528G>C c.537G>C (p.Trp179Cys) n.600G>C c.558G>C (p.Trp186Cys) n.489G>C c.399G>C (p.Trp133Cys) n.864G>C n.285G>C c.204G>C (p.Trp68Cys) | |
| 4 | g.110618542C>T | CA119287 | PITX2 | c.331G>A (p.Gly111Ser) c.456G>A (p.Trp152Ter) n.524G>A n.528G>A c.537G>A (p.Trp179Ter) n.600G>A c.558G>A (p.Trp186Ter) n.489G>A c.399G>A (p.Trp133Ter) n.864G>A n.285G>A c.204G>A (p.Trp68Ter) | ClinVar dbSNP |
| 4 | g.110618543C>A | CA357984143 | PITX2 | c.330G>T (p.Leu110=) c.455G>T (p.Trp152Leu) n.523G>T n.527G>T c.536G>T (p.Trp179Leu) n.599G>T c.557G>T (p.Trp186Leu) n.488G>T c.398G>T (p.Trp133Leu) n.863G>T n.284G>T c.203G>T (p.Trp68Leu) | |
| 4 | g.110618543C>G | CA357984141 | PITX2 | c.330G>C (p.Leu110=) c.455G>C (p.Trp152Ser) n.523G>C n.527G>C c.536G>C (p.Trp179Ser) n.599G>C c.557G>C (p.Trp186Ser) n.488G>C c.398G>C (p.Trp133Ser) n.863G>C n.284G>C c.203G>C (p.Trp68Ser) | |
| 4 | g.110618543C>T | CA357984142 | PITX2 | c.330G>A (p.Leu110=) c.455G>A (p.Trp152Ter) n.523G>A n.527G>A c.536G>A (p.Trp179Ter) n.599G>A c.557G>A (p.Trp186Ter) n.488G>A c.398G>A (p.Trp133Ter) n.863G>A n.284G>A c.203G>A (p.Trp68Ter) | ClinVar |
| 4 | g.110618544A= | CA1485098085 | PITX2 | c.329T= (p.Leu110=) c.454T= (p.Trp152=) n.522T= n.526T= c.535T= (p.Trp179=) n.598T= c.556T= (p.Trp186=) n.487T= c.397T= (p.Trp133=) n.862T= n.283T= c.202T= (p.Trp68=) | |
| 4 | g.110618544A>C | CA357984144 | PITX2 | c.329T>G (p.Leu110Arg) c.454T>G (p.Trp152Gly) n.522T>G n.526T>G c.535T>G (p.Trp179Gly) n.598T>G c.556T>G (p.Trp186Gly) n.487T>G c.397T>G (p.Trp133Gly) n.862T>G n.283T>G c.202T>G (p.Trp68Gly) | dbSNP |
| 4 | g.110618544A>G | CA357984145 | PITX2 | c.329T>C (p.Leu110Pro) c.454T>C (p.Trp152Arg) n.522T>C n.526T>C c.535T>C (p.Trp179Arg) n.598T>C c.556T>C (p.Trp186Arg) n.487T>C c.397T>C (p.Trp133Arg) n.862T>C n.283T>C c.202T>C (p.Trp68Arg) | |
| 4 | g.110618544A>T | CA357984146 | PITX2 | c.329T>A (p.Leu110Gln) c.454T>A (p.Trp152Arg) n.522T>A n.526T>A c.535T>A (p.Trp179Arg) n.598T>A c.556T>A (p.Trp186Arg) n.487T>A c.397T>A (p.Trp133Arg) n.862T>A n.283T>A c.202T>A (p.Trp68Arg) | |
| 4 | g.110618544_110618547delinsAGTT | CA1485098083 | PITX2 | c.326_329delinsAACT (p.Gln109=) c.451_454delinsAACT (p.Asn151=) n.519_522delinsAACT n.523_526delinsAACT c.532_535delinsAACT (p.Asn178=) n.595_598delinsAACT c.553_556delinsAACT (p.Asn185=) n.484_487delinsAACT c.394_397delinsAACT (p.Asn132=) n.859_862delinsAACT n.280_283delinsAACT c.199_202delinsAACT (p.Asn67=) | |
| 4 | g.110618545G>A | CA440822228 | PITX2 | c.328C>T (p.Leu110=) c.453C>T (p.Asn151=) n.521C>T n.525C>T c.534C>T (p.Asn178=) n.597C>T c.555C>T (p.Asn185=) n.486C>T c.396C>T (p.Asn132=) n.861C>T n.282C>T c.201C>T (p.Asn67=) | |
| 4 | g.110618545G>C | CA357984147 | PITX2 | c.328C>G (p.Leu110Val) c.453C>G (p.Asn151Lys) n.521C>G n.525C>G c.534C>G (p.Asn178Lys) n.597C>G c.555C>G (p.Asn185Lys) n.486C>G c.396C>G (p.Asn132Lys) n.861C>G n.282C>G c.201C>G (p.Asn67Lys) | |
| 4 | g.110618545G>T | CA357984148 | PITX2 | c.328C>A (p.Leu110Met) c.453C>A (p.Asn151Lys) n.521C>A n.525C>A c.534C>A (p.Asn178Lys) n.597C>A c.555C>A (p.Asn185Lys) n.486C>A c.396C>A (p.Asn132Lys) n.861C>A n.282C>A c.201C>A (p.Asn67Lys) | |
| 4 | g.110618550_110618552del | CA554052381 | PITX2 | c.326_328del (p.Gln109del) c.451_453del (p.Asn151del) n.519_521del n.523_525del c.532_534del (p.Asn178del) n.595_597del c.553_555del (p.Asn185del) n.484_486del c.394_396del (p.Asn132del) n.859_861del n.280_282del c.199_201del (p.Asn67del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618546T>A | CA357984150 | PITX2 | c.327A>T (p.Gln109His) c.452A>T (p.Asn151Ile) n.520A>T n.524A>T c.533A>T (p.Asn178Ile) n.596A>T c.554A>T (p.Asn185Ile) n.485A>T c.395A>T (p.Asn132Ile) n.860A>T n.281A>T c.200A>T (p.Asn67Ile) | |
| 4 | g.110618546T>C | CA104044410 | PITX2 | c.327A>G (p.Gln109=) c.452A>G (p.Asn151Ser) n.520A>G n.524A>G c.533A>G (p.Asn178Ser) n.596A>G c.554A>G (p.Asn185Ser) n.485A>G c.395A>G (p.Asn132Ser) n.860A>G n.281A>G c.200A>G (p.Asn67Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.110618546T>G | CA357984149 | PITX2 | c.327A>C (p.Gln109His) c.452A>C (p.Asn151Thr) n.520A>C n.524A>C c.533A>C (p.Asn178Thr) n.596A>C c.554A>C (p.Asn185Thr) n.485A>C c.395A>C (p.Asn132Thr) n.860A>C n.281A>C c.200A>C (p.Asn67Thr) | |
| 4 | g.110618546T= | CA1485098088 | PITX2 | c.327A= (p.Gln109=) c.452A= (p.Asn151=) n.520A= n.524A= c.533A= (p.Asn178=) n.596A= c.554A= (p.Asn185=) n.485A= c.395A= (p.Asn132=) n.860A= n.281A= c.200A= (p.Asn67=) | |
| 4 | g.110618547T>A | CA357984151 | PITX2 | c.326A>T (p.Gln109Leu) c.451A>T (p.Asn151Tyr) n.519A>T n.523A>T c.532A>T (p.Asn178Tyr) n.595A>T c.553A>T (p.Asn185Tyr) n.484A>T c.394A>T (p.Asn132Tyr) n.859A>T n.280A>T c.199A>T (p.Asn67Tyr) | |
| 4 | g.110618547T>C | CA357984152 | PITX2 | c.326A>G (p.Gln109Arg) c.451A>G (p.Asn151Asp) n.519A>G n.523A>G c.532A>G (p.Asn178Asp) n.595A>G c.553A>G (p.Asn185Asp) n.484A>G c.394A>G (p.Asn132Asp) n.859A>G n.280A>G c.199A>G (p.Asn67Asp) | |
| 4 | g.110618547T>G | CA357984153 | PITX2 | c.326A>C (p.Gln109Pro) c.451A>C (p.Asn151His) n.519A>C n.523A>C c.532A>C (p.Asn178His) n.595A>C c.553A>C (p.Asn185His) n.484A>C c.394A>C (p.Asn132His) n.859A>C n.280A>C c.199A>C (p.Asn67His) | |
| 4 | g.110618548G>A | CA357984154 | PITX2 | c.325C>T (p.Gln109Ter) c.450C>T (p.Asn150=) n.518C>T n.522C>T c.531C>T (p.Asn177=) n.594C>T c.552C>T (p.Asn184=) n.483C>T c.393C>T (p.Asn131=) n.858C>T n.279C>T c.198C>T (p.Asn66=) | |
| 4 | g.110618548G>C | CA357984155 | PITX2 | c.325C>G (p.Gln109Glu) c.450C>G (p.Asn150Lys) n.518C>G n.522C>G c.531C>G (p.Asn177Lys) n.594C>G c.552C>G (p.Asn184Lys) n.483C>G c.393C>G (p.Asn131Lys) n.858C>G n.279C>G c.198C>G (p.Asn66Lys) | |
| 4 | g.110618548G= | CA1485098094 | PITX2 | c.325C= (p.Gln109=) c.450C= (p.Asn150=) n.518C= n.522C= c.531C= (p.Asn177=) n.594C= c.552C= (p.Asn184=) n.483C= c.393C= (p.Asn131=) n.858C= n.279C= c.198C= (p.Asn66=) | |
| 4 | g.110618548G>T | CA357984156 | PITX2 | c.325C>A (p.Gln109Lys) c.450C>A (p.Asn150Lys) n.518C>A n.522C>A c.531C>A (p.Asn177Lys) n.594C>A c.552C>A (p.Asn184Lys) n.483C>A c.393C>A (p.Asn131Lys) n.858C>A n.279C>A c.198C>A (p.Asn66Lys) | dbSNP |
| 4 | g.110618549T>A | CA357984157 | PITX2 | c.324A>T (p.Gln108His) c.449A>T (p.Asn150Ile) n.517A>T n.521A>T c.530A>T (p.Asn177Ile) n.593A>T c.551A>T (p.Asn184Ile) n.482A>T c.392A>T (p.Asn131Ile) n.857A>T n.278A>T c.197A>T (p.Asn66Ile) | |
| 4 | g.110618549T>C | CA357984158 | PITX2 | c.324A>G (p.Gln108=) c.449A>G (p.Asn150Ser) n.517A>G n.521A>G c.530A>G (p.Asn177Ser) n.593A>G c.551A>G (p.Asn184Ser) n.482A>G c.392A>G (p.Asn131Ser) n.857A>G n.278A>G c.197A>G (p.Asn66Ser) | |
| 4 | g.110618549T>G | CA357984159 | PITX2 | c.324A>C (p.Gln108His) c.449A>C (p.Asn150Thr) n.517A>C n.521A>C c.530A>C (p.Asn177Thr) n.593A>C c.551A>C (p.Asn184Thr) n.482A>C c.392A>C (p.Asn131Thr) n.857A>C n.278A>C c.197A>C (p.Asn66Thr) | |
| 4 | g.110618550T>A | CA357984160 | PITX2 | c.323A>T (p.Gln108Leu) c.448A>T (p.Asn150Tyr) n.516A>T n.520A>T c.529A>T (p.Asn177Tyr) n.592A>T c.550A>T (p.Asn184Tyr) n.481A>T c.391A>T (p.Asn131Tyr) n.856A>T n.277A>T c.196A>T (p.Asn66Tyr) | |
| 4 | g.110618550T>C | CA357984161 | PITX2 | c.323A>G (p.Gln108Arg) c.448A>G (p.Asn150Asp) n.516A>G n.520A>G c.529A>G (p.Asn177Asp) n.592A>G c.550A>G (p.Asn184Asp) n.481A>G c.391A>G (p.Asn131Asp) n.856A>G n.277A>G c.196A>G (p.Asn66Asp) | |
| 4 | g.110618550T>G | CA357984162 | PITX2 | c.323A>C (p.Gln108Pro) c.448A>C (p.Asn150His) n.516A>C n.520A>C c.529A>C (p.Asn177His) n.592A>C c.550A>C (p.Asn184His) n.481A>C c.391A>C (p.Asn131His) n.856A>C n.277A>C c.196A>C (p.Asn66His) | |
| 4 | g.110618551G>A | CA357984165 | PITX2 | c.322C>T (p.Gln108Ter) c.447C>T (p.Tyr149=) n.515C>T n.519C>T c.528C>T (p.Tyr176=) n.591C>T c.549C>T (p.Tyr183=) n.480C>T c.390C>T (p.Tyr130=) n.855C>T n.276C>T c.195C>T (p.Tyr65=) | |
| 4 | g.110618551G>C | CA357984163 | PITX2 | c.322C>G (p.Gln108Glu) c.447C>G (p.Tyr149Ter) n.515C>G n.519C>G c.528C>G (p.Tyr176Ter) n.591C>G c.549C>G (p.Tyr183Ter) n.480C>G c.390C>G (p.Tyr130Ter) n.855C>G n.276C>G c.195C>G (p.Tyr65Ter) | |
| 4 | g.110618551G>T | CA357984164 | PITX2 | c.322C>A (p.Gln108Lys) c.447C>A (p.Tyr149Ter) n.515C>A n.519C>A c.528C>A (p.Tyr176Ter) n.591C>A c.549C>A (p.Tyr183Ter) n.480C>A c.390C>A (p.Tyr130Ter) n.855C>A n.276C>A c.195C>A (p.Tyr65Ter) | |
| 4 | g.110618552T>A | CA357984166 | PITX2 | c.321A>T (p.Leu107=) c.446A>T (p.Tyr149Phe) n.514A>T n.518A>T c.527A>T (p.Tyr176Phe) n.590A>T c.548A>T (p.Tyr183Phe) n.479A>T c.389A>T (p.Tyr130Phe) n.854A>T n.275A>T c.194A>T (p.Tyr65Phe) | |
| 4 | g.110618552T>C | CA3045469 | PITX2 | c.321A>G (p.Leu107=) c.446A>G (p.Tyr149Cys) n.514A>G n.518A>G c.527A>G (p.Tyr176Cys) n.590A>G c.548A>G (p.Tyr183Cys) n.479A>G c.389A>G (p.Tyr130Cys) n.854A>G n.275A>G c.194A>G (p.Tyr65Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.110618552T>G | CA357984167 | PITX2 | c.321A>C (p.Leu107=) c.446A>C (p.Tyr149Ser) n.514A>C n.518A>C c.527A>C (p.Tyr176Ser) n.590A>C c.548A>C (p.Tyr183Ser) n.479A>C c.389A>C (p.Tyr130Ser) n.854A>C n.275A>C c.194A>C (p.Tyr65Ser) | |
| 4 | g.110618552T= | CA1485098096 | PITX2 | c.321A= (p.Leu107=) c.446A= (p.Tyr149=) n.514A= n.518A= c.527A= (p.Tyr176=) n.590A= c.548A= (p.Tyr183=) n.479A= c.389A= (p.Tyr130=) n.854A= n.275A= c.194A= (p.Tyr65=) | |
| 4 | g.110618553A>C | CA357984168 | PITX2 | c.320T>G (p.Leu107Arg) c.445T>G (p.Tyr149Asp) n.513T>G n.517T>G c.526T>G (p.Tyr176Asp) n.589T>G c.547T>G (p.Tyr183Asp) n.478T>G c.388T>G (p.Tyr130Asp) n.853T>G n.274T>G c.193T>G (p.Tyr65Asp) | |
| 4 | g.110618553A>G | CA357984169 | PITX2 | c.320T>C (p.Leu107Pro) c.445T>C (p.Tyr149His) n.513T>C n.517T>C c.526T>C (p.Tyr176His) n.589T>C c.547T>C (p.Tyr183His) n.478T>C c.388T>C (p.Tyr130His) n.853T>C n.274T>C c.193T>C (p.Tyr65His) | |
| 4 | g.110618553A>T | CA357984170 | PITX2 | c.320T>A (p.Leu107Gln) c.445T>A (p.Tyr149Asn) n.513T>A n.517T>A c.526T>A (p.Tyr176Asn) n.589T>A c.547T>A (p.Tyr183Asn) n.478T>A c.388T>A (p.Tyr130Asn) n.853T>A n.274T>A c.193T>A (p.Tyr65Asn) |