| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626206del | CA16042037 | ARSA | c.929del (p.Gly310AlafsTer19) c.671del (p.Gly224AlafsTer19) | ClinVar dbSNP |
| 22 | g.50626206C>A | CA412174569 | ARSA | c.927G>T (p.Glu309Asp) c.669G>T (p.Glu223Asp) | |
| 22 | g.50626206C= | CA2410958914 | ARSA | c.927G= (p.Glu309=) c.669G= (p.Glu223=) | |
| 22 | g.50626206C>G | CA412174572 | ARSA | c.927G>C (p.Glu309Asp) c.669G>C (p.Glu223Asp) | |
| 22 | g.50626206C>T | CA10324872 | ARSA | c.927G>A (p.Glu309=) c.669G>A (p.Glu223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626207T>A | CA412174579 | ARSA | c.926A>T (p.Glu309Val) c.668A>T (p.Glu223Val) | ClinVar dbSNP |
| 22 | g.50626207T>C | CA412174585 | ARSA | c.926A>G (p.Glu309Gly) c.668A>G (p.Glu223Gly) | ClinVar |
| 22 | g.50626207T>G | CA412174589 | ARSA | c.926A>C (p.Glu309Ala) c.668A>C (p.Glu223Ala) | |
| 22 | g.50626207T= | CA2410958915 | ARSA | c.926A= (p.Glu309=) c.668A= (p.Glu223=) | |
| 22 | g.50626207dup | CA913088704 | ARSA | c.926dup (p.Gly311ArgfsTer?) c.668dup (p.Gly225ArgfsTer?) | |
| 22 | g.50626208C>A | CA10324873 | ARSA | c.925G>T (p.Glu309Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C= | CA2410958916 | ARSA | c.925G= (p.Glu309=) c.667G= (p.Glu223=) | |
| 22 | g.50626208C>G | CA10324874 | ARSA | c.925G>C (p.Glu309Gln) c.667G>C (p.Glu223Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C>T | CA219080 | ARSA | c.925G>A (p.Glu309Lys) c.667G>A (p.Glu223Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626208dup | CA658824685 | ARSA | c.925dup (p.Glu309GlyfsTer?) c.667dup (p.Glu223GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50626208_50626211dup | CA2695231027 | ARSA | c.922_925dup (p.Glu309ValfsTer?) c.664_667dup (p.Glu223ValfsTer?) | |
| 22 | g.50626209G>A | CA10324875 | ARSA | c.924C>T (p.Tyr308=) c.666C>T (p.Tyr222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626209G>C | CA412174606 | ARSA | c.924C>G (p.Tyr308Ter) c.666C>G (p.Tyr222Ter) | |
| 22 | g.50626209G= | CA2410958917 | ARSA | c.924C= (p.Tyr308=) c.666C= (p.Tyr222=) | |
| 22 | g.50626209G>T | CA412174610 | ARSA | c.924C>A (p.Tyr308Ter) c.666C>A (p.Tyr222Ter) | |
| 22 | g.50626210T>A | CA412174621 | ARSA | c.923A>T (p.Tyr308Phe) c.665A>T (p.Tyr222Phe) | |
| 22 | g.50626210T>C | CA412174619 | ARSA | c.923A>G (p.Tyr308Cys) c.665A>G (p.Tyr222Cys) | |
| 22 | g.50626210T>G | CA412174615 | ARSA | c.923A>C (p.Tyr308Ser) c.665A>C (p.Tyr222Ser) | |
| 22 | g.50626211A= | CA2410958918 | ARSA | c.922T= (p.Tyr308=) c.664T= (p.Tyr222=) | |
| 22 | g.50626211A>C | CA412174627 | ARSA | c.922T>G (p.Tyr308Asp) c.664T>G (p.Tyr222Asp) | |
| 22 | g.50626211A>G | CA219078 | ARSA | c.922T>C (p.Tyr308His) c.664T>C (p.Tyr222His) | ClinVar dbSNP |
| 22 | g.50626211A>T | CA412174625 | ARSA | c.922T>A (p.Tyr308Asn) c.664T>A (p.Tyr222Asn) | gnomAD v4 |
| 22 | g.50626212G>A | CA515248968 | ARSA | c.921C>T (p.Thr307=) c.663C>T (p.Thr221=) | |
| 22 | g.50626212G>C | CA515248969 | ARSA | c.921C>G (p.Thr307=) c.663C>G (p.Thr221=) | |
| 22 | g.50626212G>T | CA515248970 | ARSA | c.921C>A (p.Thr307=) c.663C>A (p.Thr221=) | |
| 22 | g.50626213G>A | CA412174630 | ARSA | c.920C>T (p.Thr307Ile) c.662C>T (p.Thr221Ile) | |
| 22 | g.50626213G>C | CA412174632 | ARSA | c.920C>G (p.Thr307Ser) c.662C>G (p.Thr221Ser) | |
| 22 | g.50626213G= | CA2410958919 | ARSA | c.920C= (p.Thr307=) c.662C= (p.Thr221=) | |
| 22 | g.50626213G>T | CA10324876 | ARSA | c.920C>A (p.Thr307Asn) c.662C>A (p.Thr221Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626214T>A | CA412174637 | ARSA | c.919A>T (p.Thr307Ser) c.661A>T (p.Thr221Ser) | |
| 22 | g.50626214T>C | CA412174638 | ARSA | c.919A>G (p.Thr307Ala) c.661A>G (p.Thr221Ala) | gnomAD v4 |
| 22 | g.50626214T>G | CA412174640 | ARSA | c.919A>C (p.Thr307Pro) c.661A>C (p.Thr221Pro) | |
| 22 | g.50626215C>A | CA515248971 | ARSA | c.918G>T (p.Thr306=) c.660G>T (p.Thr220=) | |
| 22 | g.50626215C= | CA2410958920 | ARSA | c.918G= (p.Thr306=) c.660G= (p.Thr220=) | |
| 22 | g.50626215C>G | CA10324878 | ARSA | c.918G>C (p.Thr306=) c.660G>C (p.Thr220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626215C>T | CA10324877 | ARSA | c.918G>A (p.Thr306=) c.660G>A (p.Thr220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626216G>A | CA219074 | ARSA | c.917C>T (p.Thr306Met) c.659C>T (p.Thr220Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626216G>C | CA412174662 | ARSA | c.917C>G (p.Thr306Arg) c.659C>G (p.Thr220Arg) | |
| 22 | g.50626216G= | CA2410958921 | ARSA | c.917C= (p.Thr306=) c.659C= (p.Thr220=) | |
| 22 | g.50626216G>T | CA412174665 | ARSA | c.917C>A (p.Thr306Lys) c.659C>A (p.Thr220Lys) | |
| 22 | g.50626217T>A | CA412174668 | ARSA | c.916A>T (p.Thr306Ser) c.658A>T (p.Thr220Ser) | |
| 22 | g.50626217T>C | CA412174667 | ARSA | c.916A>G (p.Thr306Ala) c.658A>G (p.Thr220Ala) | ClinVar gnomAD v4 |
| 22 | g.50626217T>G | CA412174666 | ARSA | c.916A>C (p.Thr306Pro) c.658A>C (p.Thr220Pro) | |
| 22 | g.50626218T>A | CA515248972 | ARSA | c.915A>T (p.Gly305=) c.657A>T (p.Gly219=) | |
| 22 | g.50626218T>C | CA515248973 | ARSA | c.915A>G (p.Gly305=) c.657A>G (p.Gly219=) |