Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.83508977C>A | CA413752010 | POU3F4 | c.653C>A (p.Ala218Glu) | |
X | g.83508977C>G | CA413752011 | POU3F4 | c.653C>G (p.Ala218Gly) | |
X | g.83508977C>T | CA413752012 | POU3F4 | c.653C>T (p.Ala218Val) | |
X | g.83508978G>A | CA517478645 | POU3F4 | c.654G>A (p.Ala218=) | |
X | g.83508978G>C | CA517478644 | POU3F4 | c.654G>C (p.Ala218=) | |
X | g.83508978G= | CA2441497467 | POU3F4 | c.654G= (p.Ala218=) | |
X | g.83508978G>T | CA517478643 | POU3F4 | c.654G>T (p.Ala218=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.83508979C>A | CA413752014 | POU3F4 | c.655C>A (p.Leu219Met) | |
X | g.83508979C= | CA2441497468 | POU3F4 | c.655C= (p.Leu219=) | |
X | g.83508979C>G | CA413752013 | POU3F4 | c.655C>G (p.Leu219Val) | |
X | g.83508979C>T | CA10462797 | POU3F4 | c.655C>T (p.Leu219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.83508980T>A | CA413752015 | POU3F4 | c.656T>A (p.Leu219Gln) | |
X | g.83508980T>C | CA413752016 | POU3F4 | c.656T>C (p.Leu219Pro) | |
X | g.83508980T>G | CA413752017 | POU3F4 | c.656T>G (p.Leu219Arg) | |
X | g.83508981G>A | CA517478678 | POU3F4 | c.657G>A (p.Leu219=) | |
X | g.83508981G>C | CA517478664 | POU3F4 | c.657G>C (p.Leu219=) | |
X | g.83508981G>T | CA517478662 | POU3F4 | c.657G>T (p.Leu219=) | |
X | g.83508983del | CA2579653629 | POU3F4 | c.659del (p.Gly220AlafsTer21) | |
X | g.83508982G>A | CA413752018 | POU3F4 | c.658G>A (p.Gly220Ser) | |
X | g.83508982G>C | CA413752019 | POU3F4 | c.658G>C (p.Gly220Arg) | |
X | g.83508982G>T | CA413752020 | POU3F4 | c.658G>T (p.Gly220Cys) | COSMIC |
X | g.83508983G>A | CA413752021 | POU3F4 | c.659G>A (p.Gly220Asp) | |
X | g.83508983G>C | CA413752022 | POU3F4 | c.659G>C (p.Gly220Ala) | |
X | g.83508983G>T | CA413752023 | POU3F4 | c.659G>T (p.Gly220Val) | |
X | g.83508984C>A | CA517478693 | POU3F4 | c.660C>A (p.Gly220=) | |
X | g.83508984C>G | CA517478704 | POU3F4 | c.660C>G (p.Gly220=) | |
X | g.83508984C>T | CA517478699 | POU3F4 | c.660C>T (p.Gly220=) | |
X | g.83508985A>C | CA413752024 | POU3F4 | c.661A>C (p.Thr221Pro) | |
X | g.83508985A>G | CA413752025 | POU3F4 | c.661A>G (p.Thr221Ala) | |
X | g.83508985A>T | CA413752026 | POU3F4 | c.661A>T (p.Thr221Ser) | |
X | g.83508986C>A | CA413752029 | POU3F4 | c.662C>A (p.Thr221Lys) | |
X | g.83508986C>G | CA413752028 | POU3F4 | c.662C>G (p.Thr221Arg) | |
X | g.83508986C>T | CA413752027 | POU3F4 | c.662C>T (p.Thr221Ile) | |
X | g.83508987A= | CA2441497469 | POU3F4 | c.663A= (p.Thr221=) | |
X | g.83508987A>C | CA517478709 | POU3F4 | c.663A>C (p.Thr221=) | dbSNP |
X | g.83508987A>G | CA10462798 | POU3F4 | c.663A>G (p.Thr221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.83508987A>T | CA517478714 | POU3F4 | c.663A>T (p.Thr221=) | |
X | g.83508988C>A | CA413752031 | POU3F4 | c.664C>A (p.Leu222Met) | |
X | g.83508988C>G | CA413752030 | POU3F4 | c.664C>G (p.Leu222Val) | |
X | g.83508988C>T | CA517478722 | POU3F4 | c.664C>T (p.Leu222=) | |
X | g.83508988_83508990delinsCTG | CA2441497470 | POU3F4 | c.664_666delinsCTG (p.Leu222=) | |
X | g.83508989T>A | CA413752032 | POU3F4 | c.665T>A (p.Leu222Gln) | |
X | g.83508989T>C | CA413752033 | POU3F4 | c.665T>C (p.Leu222Pro) | |
X | g.83508989T>G | CA413752034 | POU3F4 | c.665T>G (p.Leu222Arg) | |
X | g.83508990_83508991del | CA1139667684 | POU3F4 | c.666_667del (p.Tyr223TrpfsTer2) | ClinVar dbSNP |
X | g.83508990G>A | CA517478736 | POU3F4 | c.666G>A (p.Leu222=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.83508990G>C | CA517478738 | POU3F4 | c.666G>C (p.Leu222=) | |
X | g.83508990G= | CA2441497471 | POU3F4 | c.666G= (p.Leu222=) | |
X | g.83508990G>T | CA517478747 | POU3F4 | c.666G>T (p.Leu222=) | |
X | g.83508991T>A | CA413752035 | POU3F4 | c.667T>A (p.Tyr223Asn) |