| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1801682C>A | CA355975568 | FGFR3 | c.678C>A (p.Tyr226Ter) c.666C>A (p.Tyr222Ter) n.54C>A c.138C>A (p.Tyr46Ter) n.934C>A n.953C>A | |
| 4 | g.1801682C= | CA1433504947 | FGFR3 | c.678C= (p.Tyr226=) c.666C= (p.Tyr222=) n.54C= c.138C= (p.Tyr46=) n.934C= n.953C= | |
| 4 | g.1801682C>G | CA355975569 | FGFR3 | c.678C>G (p.Tyr226Ter) c.666C>G (p.Tyr222Ter) n.54C>G c.138C>G (p.Tyr46Ter) n.934C>G n.953C>G | |
| 4 | g.1801682C>T | CA203201 | FGFR3 | c.678C>T (p.Tyr226=) c.666C>T (p.Tyr222=) n.54C>T c.138C>T (p.Tyr46=) n.934C>T n.953C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.1801683A>C | CA355975572 | FGFR3 | c.679A>C (p.Thr227Pro) c.667A>C (p.Thr223Pro) n.55A>C c.139A>C (p.Thr47Pro) n.935A>C n.954A>C | dbSNP |
| 4 | g.1801683A>G | CA355975570 | FGFR3 | c.679A>G (p.Thr227Ala) c.667A>G (p.Thr223Ala) n.55A>G c.139A>G (p.Thr47Ala) n.935A>G n.954A>G | |
| 4 | g.1801683A>T | CA355975571 | FGFR3 | c.679A>T (p.Thr227Ser) c.667A>T (p.Thr223Ser) n.55A>T c.139A>T (p.Thr47Ser) n.935A>T n.954A>T | |
| 4 | g.1801684C>A | CA355975573 | FGFR3 | c.680C>A (p.Thr227Asn) c.668C>A (p.Thr223Asn) n.56C>A c.140C>A (p.Thr47Asn) n.936C>A n.955C>A | |
| 4 | g.1801684C>G | CA355975574 | FGFR3 | c.680C>G (p.Thr227Ser) c.668C>G (p.Thr223Ser) n.56C>G c.140C>G (p.Thr47Ser) n.936C>G n.955C>G | |
| 4 | g.1801684C>T | CA355975575 | FGFR3 | c.680C>T (p.Thr227Ile) c.668C>T (p.Thr223Ile) n.56C>T c.140C>T (p.Thr47Ile) n.936C>T n.955C>T | |
| 4 | g.1801685C>A | CA438063188 | FGFR3 | c.681C>A (p.Thr227=) c.669C>A (p.Thr223=) n.57C>A c.141C>A (p.Thr47=) n.937C>A n.956C>A | |
| 4 | g.1801685C= | CA1433504948 | FGFR3 | c.681C= (p.Thr227=) c.669C= (p.Thr223=) n.57C= c.141C= (p.Thr47=) n.937C= n.956C= | |
| 4 | g.1801685C>G | CA438063189 | FGFR3 | c.681C>G (p.Thr227=) c.669C>G (p.Thr223=) n.57C>G c.141C>G (p.Thr47=) n.937C>G n.956C>G | dbSNP gnomAD v4 |
| 4 | g.1801685C>T | CA2809920 | FGFR3 | c.681C>T (p.Thr227=) c.669C>T (p.Thr223=) n.57C>T c.141C>T (p.Thr47=) n.937C>T n.956C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801686T>A | CA355975576 | FGFR3 | c.682T>A (p.Cys228Ser) c.670T>A (p.Cys224Ser) n.58T>A c.142T>A (p.Cys48Ser) n.938T>A n.957T>A | |
| 4 | g.1801686T>C | CA355975577 | FGFR3 | c.682T>C (p.Cys228Arg) c.670T>C (p.Cys224Arg) n.58T>C c.142T>C (p.Cys48Arg) n.938T>C n.957T>C | COSMIC |
| 4 | g.1801686T>G | CA355975578 | FGFR3 | c.682T>G (p.Cys228Gly) c.670T>G (p.Cys224Gly) n.58T>G c.142T>G (p.Cys48Gly) n.938T>G n.957T>G | |
| 4 | g.1801687G>A | CA355975579 | FGFR3 | c.683G>A (p.Cys228Tyr) c.671G>A (p.Cys224Tyr) n.59G>A c.143G>A (p.Cys48Tyr) n.939G>A n.958G>A | |
| 4 | g.1801687G>C | CA355975580 | FGFR3 | c.683G>C (p.Cys228Ser) c.671G>C (p.Cys224Ser) n.59G>C c.143G>C (p.Cys48Ser) n.939G>C n.958G>C | |
| 4 | g.1801687G>T | CA355975581 | FGFR3 | c.683G>T (p.Cys228Phe) c.671G>T (p.Cys224Phe) n.59G>T c.143G>T (p.Cys48Phe) n.939G>T n.958G>T | gnomAD v4 |
| 4 | g.1801688C>A | CA355975582 | FGFR3 | c.684C>A (p.Cys228Ter) c.672C>A (p.Cys224Ter) n.60C>A c.144C>A (p.Cys48Ter) n.940C>A n.959C>A | |
| 4 | g.1801688C= | CA1433504949 | FGFR3 | c.684C= (p.Cys228=) c.672C= (p.Cys224=) n.60C= c.144C= (p.Cys48=) n.940C= n.959C= | |
| 4 | g.1801688C>G | CA355975583 | FGFR3 | c.684C>G (p.Cys228Trp) c.672C>G (p.Cys224Trp) n.60C>G c.144C>G (p.Cys48Trp) n.940C>G n.959C>G | gnomAD v4 |
| 4 | g.1801688C>T | CA2809921 | FGFR3 | c.684C>T (p.Cys228=) c.672C>T (p.Cys224=) n.60C>T c.144C>T (p.Cys48=) n.940C>T n.959C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801689G>A | CA2809922 | FGFR3 | c.685G>A (p.Val229Ile) c.673G>A (p.Val225Ile) n.61G>A c.145G>A (p.Val49Ile) n.941G>A n.960G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801689G>C | CA2809923 | FGFR3 | c.685G>C (p.Val229Leu) c.673G>C (p.Val225Leu) n.61G>C c.145G>C (p.Val49Leu) n.941G>C n.960G>C | dbSNP ExAC gnomAD v2 |
| 4 | g.1801689G= | CA1433504950 | FGFR3 | c.685G= (p.Val229=) c.673G= (p.Val225=) n.61G= c.145G= (p.Val49=) n.941G= n.960G= | |
| 4 | g.1801689G>T | CA355975584 | FGFR3 | c.685G>T (p.Val229Phe) c.673G>T (p.Val225Phe) n.61G>T c.145G>T (p.Val49Phe) n.941G>T n.960G>T | |
| 4 | g.1801690T>A | CA355975585 | FGFR3 | c.686T>A (p.Val229Asp) c.674T>A (p.Val225Asp) n.62T>A c.146T>A (p.Val49Asp) n.942T>A n.961T>A | dbSNP |
| 4 | g.1801690T>C | CA355975586 | FGFR3 | c.686T>C (p.Val229Ala) c.674T>C (p.Val225Ala) n.62T>C c.146T>C (p.Val49Ala) n.942T>C n.961T>C | |
| 4 | g.1801690T>G | CA355975587 | FGFR3 | c.686T>G (p.Val229Gly) c.674T>G (p.Val225Gly) n.62T>G c.146T>G (p.Val49Gly) n.942T>G n.961T>G | dbSNP |
| 4 | g.1801691C>A | CA438063215 | FGFR3 | c.687C>A (p.Val229=) c.675C>A (p.Val225=) n.63C>A c.147C>A (p.Val49=) n.943C>A n.962C>A | gnomAD v4 |
| 4 | g.1801691C= | CA1433504951 | FGFR3 | c.687C= (p.Val229=) c.675C= (p.Val225=) n.63C= c.147C= (p.Val49=) n.943C= n.962C= | |
| 4 | g.1801691C>G | CA438063216 | FGFR3 | c.687C>G (p.Val229=) c.675C>G (p.Val225=) n.63C>G c.147C>G (p.Val49=) n.943C>G n.962C>G | |
| 4 | g.1801691C>T | CA91249535 | FGFR3 | c.687C>T (p.Val229=) c.675C>T (p.Val225=) n.63C>T c.147C>T (p.Val49=) n.943C>T n.962C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801692G>A | CA355975588 | FGFR3 | c.688G>A (p.Val230Met) c.676G>A (p.Val226Met) n.64G>A c.148G>A (p.Val50Met) n.944G>A n.963G>A | dbSNP gnomAD v4 |
| 4 | g.1801692G>C | CA355975589 | FGFR3 | c.688G>C (p.Val230Leu) c.676G>C (p.Val226Leu) n.64G>C c.148G>C (p.Val50Leu) n.944G>C n.963G>C | |
| 4 | g.1801692G= | CA1433504952 | FGFR3 | c.688G= (p.Val230=) c.676G= (p.Val226=) n.64G= c.148G= (p.Val50=) n.944G= n.963G= | |
| 4 | g.1801692G>T | CA355975590 | FGFR3 | c.688G>T (p.Val230Leu) c.676G>T (p.Val226Leu) n.64G>T c.148G>T (p.Val50Leu) n.944G>T n.963G>T | dbSNP |
| 4 | g.1801693T>A | CA355975591 | FGFR3 | c.689T>A (p.Val230Glu) c.677T>A (p.Val226Glu) n.65T>A c.149T>A (p.Val50Glu) n.945T>A n.964T>A | dbSNP |
| 4 | g.1801693T>C | CA91249537 | FGFR3 | c.689T>C (p.Val230Ala) c.677T>C (p.Val226Ala) n.65T>C c.149T>C (p.Val50Ala) n.945T>C n.964T>C | dbSNP gnomAD v4 |
| 4 | g.1801693T>G | CA355975592 | FGFR3 | c.689T>G (p.Val230Gly) c.677T>G (p.Val226Gly) n.65T>G c.149T>G (p.Val50Gly) n.945T>G n.964T>G | |
| 4 | g.1801693T= | CA1433504953 | FGFR3 | c.689T= (p.Val230=) c.677T= (p.Val226=) n.65T= c.149T= (p.Val50=) n.945T= n.964T= | |
| 4 | g.1801694G>A | CA2809924 | FGFR3 | c.690G>A (p.Val230=) c.678G>A (p.Val226=) n.66G>A c.150G>A (p.Val50=) n.946G>A n.965G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1801694G>C | CA438063225 | FGFR3 | c.690G>C (p.Val230=) c.678G>C (p.Val226=) n.66G>C c.150G>C (p.Val50=) n.946G>C n.965G>C | |
| 4 | g.1801694G= | CA1433504954 | FGFR3 | c.690G= (p.Val230=) c.678G= (p.Val226=) n.66G= c.150G= (p.Val50=) n.946G= n.965G= | |
| 4 | g.1801694G>T | CA438063226 | FGFR3 | c.690G>T (p.Val230=) c.678G>T (p.Val226=) n.66G>T c.150G>T (p.Val50=) n.946G>T n.965G>T | |
| 4 | g.1801695G>A | CA355975595 | FGFR3 | c.691G>A (p.Glu231Lys) c.679G>A (p.Glu227Lys) n.67G>A c.151G>A (p.Glu51Lys) n.947G>A n.966G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.1801695G>C | CA355975594 | FGFR3 | c.691G>C (p.Glu231Gln) c.679G>C (p.Glu227Gln) n.67G>C c.151G>C (p.Glu51Gln) n.947G>C n.966G>C | dbSNP |
| 4 | g.1801695G= | CA1433504955 | FGFR3 | c.691G= (p.Glu231=) c.679G= (p.Glu227=) n.67G= c.151G= (p.Glu51=) n.947G= n.966G= |