| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626052C>A | CA278427 | ARSA | c.991G>T (p.Glu331Ter) c.733G>T (p.Glu245Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626052C= | CA2410958811 | ARSA | c.991G= (p.Glu331=) c.733G= (p.Glu245=) | |
| 22 | g.50626052C>G | CA412172534 | ARSA | c.991G>C (p.Glu331Gln) c.733G>C (p.Glu245Gln) | |
| 22 | g.50626052C>T | CA412172524 | ARSA | c.991G>A (p.Glu331Lys) c.733G>A (p.Glu245Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>A | CA10324845 | ARSA | c.990C>T (p.His330=) c.732C>T (p.His244=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626053G>C | CA412172562 | ARSA | c.990C>G (p.His330Gln) c.732C>G (p.His244Gln) | |
| 22 | g.50626053G= | CA2410958812 | ARSA | c.990C= (p.His330=) c.732C= (p.His244=) | |
| 22 | g.50626053G>T | CA412172552 | ARSA | c.990C>A (p.His330Gln) c.732C>A (p.His244Gln) | COSMIC |
| 22 | g.50626054T>A | CA412172563 | ARSA | c.989A>T (p.His330Leu) c.731A>T (p.His244Leu) | |
| 22 | g.50626054T>C | CA412172571 | ARSA | c.989A>G (p.His330Arg) c.731A>G (p.His244Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626054T>G | CA412172567 | ARSA | c.989A>C (p.His330Pro) c.731A>C (p.His244Pro) | |
| 22 | g.50626054T= | CA2410958813 | ARSA | c.989A= (p.His330=) c.731A= (p.His244=) | |
| 22 | g.50626055G>A | CA412172573 | ARSA | c.988C>T (p.His330Tyr) c.730C>T (p.His244Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626055G>C | CA412172576 | ARSA | c.988C>G (p.His330Asp) c.730C>G (p.His244Asp) | |
| 22 | g.50626055G= | CA2410958814 | ARSA | c.988C= (p.His330=) c.730C= (p.His244=) | |
| 22 | g.50626055G>T | CA412172589 | ARSA | c.988C>A (p.His330Asn) c.730C>A (p.His244Asn) | gnomAD v4 |
| 22 | g.50626057dup | CA2695231026 | ARSA | c.988dup (p.His330ProfsTer30) c.730dup (p.His244ProfsTer30) | |
| 22 | g.50626056G>A | CA515248921 | ARSA | c.987C>T (p.Thr329=) c.729C>T (p.Thr243=) | |
| 22 | g.50626056G>C | CA515248920 | ARSA | c.987C>G (p.Thr329=) c.729C>G (p.Thr243=) | |
| 22 | g.50626056G>T | CA515248919 | ARSA | c.987C>A (p.Thr329=) c.729C>A (p.Thr243=) | gnomAD v4 |
| 22 | g.50626057G>A | CA278425 | ARSA | c.986C>T (p.Thr329Ile) c.728C>T (p.Thr243Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G>C | CA412172611 | ARSA | c.986C>G (p.Thr329Ser) c.728C>G (p.Thr243Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626057G= | CA2410958815 | ARSA | c.986C= (p.Thr329=) c.728C= (p.Thr243=) | |
| 22 | g.50626057G>T | CA412172620 | ARSA | c.986C>A (p.Thr329Asn) c.728C>A (p.Thr243Asn) | |
| 22 | g.50626058T>A | CA412172638 | ARSA | c.985A>T (p.Thr329Ser) c.727A>T (p.Thr243Ser) | |
| 22 | g.50626058T>C | CA412172644 | ARSA | c.985A>G (p.Thr329Ala) c.727A>G (p.Thr243Ala) | gnomAD v4 |
| 22 | g.50626058T>G | CA412172655 | ARSA | c.985A>C (p.Thr329Pro) c.727A>C (p.Thr243Pro) | |
| 22 | g.50626059C>A | CA515248924 | ARSA | c.984G>T (p.Val328=) c.726G>T (p.Val242=) | gnomAD v4 |
| 22 | g.50626059C>G | CA515248922 | ARSA | c.984G>C (p.Val328=) c.726G>C (p.Val242=) | |
| 22 | g.50626059C>T | CA515248923 | ARSA | c.984G>A (p.Val328=) c.726G>A (p.Val242=) | |
| 22 | g.50626060A>C | CA412172682 | ARSA | c.983T>G (p.Val328Gly) c.725T>G (p.Val242Gly) | |
| 22 | g.50626060A>G | CA412172672 | ARSA | c.983T>C (p.Val328Ala) c.725T>C (p.Val242Ala) | |
| 22 | g.50626060A>T | CA412172666 | ARSA | c.983T>A (p.Val328Glu) c.725T>A (p.Val242Glu) | |
| 22 | g.50626061C>A | CA412172688 | ARSA | c.982G>T (p.Val328Leu) c.724G>T (p.Val242Leu) | |
| 22 | g.50626061C= | CA2410958816 | ARSA | c.982G= (p.Val328=) c.724G= (p.Val242=) | |
| 22 | g.50626061C>G | CA412172694 | ARSA | c.982G>C (p.Val328Leu) c.724G>C (p.Val242Leu) | |
| 22 | g.50626061C>T | CA10324846 | ARSA | c.982G>A (p.Val328Met) c.724G>A (p.Val242Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626062G>A | CA10324847 | ARSA | c.981C>T (p.Gly327=) c.723C>T (p.Gly241=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626062G>C | CA515248925 | ARSA | c.981C>G (p.Gly327=) c.723C>G (p.Gly241=) | |
| 22 | g.50626062G= | CA2410958817 | ARSA | c.981C= (p.Gly327=) c.723C= (p.Gly241=) | |
| 22 | g.50626062G>T | CA515248926 | ARSA | c.981C>A (p.Gly327=) c.723C>A (p.Gly241=) | gnomAD v4 |
| 22 | g.50626063C>A | CA412172710 | ARSA | c.980G>T (p.Gly327Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
| 22 | g.50626063C= | CA2410958818 | ARSA | c.980G= (p.Gly327=) c.722G= (p.Gly241=) | |
| 22 | g.50626063C>G | CA412172715 | ARSA | c.980G>C (p.Gly327Ala) c.722G>C (p.Gly241Ala) | |
| 22 | g.50626063C>T | CA325531318 | ARSA | c.980G>A (p.Gly327Asp) c.722G>A (p.Gly241Asp) | dbSNP |
| 22 | g.50626064del | CA2657592244 | ARSA | c.980del c.722del | gnomAD v4 |
| 22 | g.50626064C>A | CA412172725 | ARSA | c.980-1G>T (n.980-1G>T) c.722-1G>T (n.722-1G>T) | gnomAD v4 |
| 22 | g.50626064C>G | CA412172728 | ARSA | c.980-1G>C (n.980-1G>C) c.722-1G>C (n.722-1G>C) | |
| 22 | g.50626064C>T | CA412172729 | ARSA | c.980-1G>A (n.980-1G>A) c.722-1G>A (n.722-1G>A) | gnomAD v4 |
| 22 | g.50626065T>A | CA412172736 | ARSA | c.980-2A>T (n.980-2A>T) c.722-2A>T (n.722-2A>T) |