| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626044_50626051del | CA2657592206 | ARSA | c.996_1003del (p.Ala333ProfsTer24) c.738_745del (p.Ala247ProfsTer24) | gnomAD v4 |
| 22 | g.50626044G>A | CA10324844 | ARSA | c.999C>T (p.Ala333=) c.741C>T (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626044G>C | CA515248913 | ARSA | c.999C>G (p.Ala333=) c.741C>G (p.Ala247=) | gnomAD v4 |
| 22 | g.50626044G= | CA2410958808 | ARSA | c.999C= (p.Ala333=) c.741C= (p.Ala247=) | |
| 22 | g.50626044G>T | CA10324843 | ARSA | c.999C>A (p.Ala333=) c.741C>A (p.Ala247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626045G>A | CA412172421 | ARSA | c.998C>T (p.Ala333Val) c.740C>T (p.Ala247Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626045G>C | CA412172418 | ARSA | c.998C>G (p.Ala333Gly) c.740C>G (p.Ala247Gly) | |
| 22 | g.50626045G= | CA2410958809 | ARSA | c.998C= (p.Ala333=) c.740C= (p.Ala247=) | |
| 22 | g.50626045G>T | CA412172415 | ARSA | c.998C>A (p.Ala333Asp) c.740C>A (p.Ala247Asp) | gnomAD v4 |
| 22 | g.50626046C>A | CA412172425 | ARSA | c.997G>T (p.Ala333Ser) c.739G>T (p.Ala247Ser) | gnomAD v4 |
| 22 | g.50626046C>G | CA412172431 | ARSA | c.997G>C (p.Ala333Pro) c.739G>C (p.Ala247Pro) | |
| 22 | g.50626046C>T | CA412172437 | ARSA | c.997G>A (p.Ala333Thr) c.739G>A (p.Ala247Thr) | gnomAD v4 |
| 22 | g.50626047C>A | CA515248914 | ARSA | c.996G>T (p.Leu332=) c.738G>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626047C>G | CA515248915 | ARSA | c.996G>C (p.Leu332=) c.738G>C (p.Leu246=) | |
| 22 | g.50626047C>T | CA515248916 | ARSA | c.996G>A (p.Leu332=) c.738G>A (p.Leu246=) | |
| 22 | g.50626048A>C | CA412172471 | ARSA | c.995T>G (p.Leu332Arg) c.737T>G (p.Leu246Arg) | |
| 22 | g.50626048A>G | CA412172477 | ARSA | c.995T>C (p.Leu332Pro) c.737T>C (p.Leu246Pro) | gnomAD v4 |
| 22 | g.50626048A>T | CA412172490 | ARSA | c.995T>A (p.Leu332Gln) c.737T>A (p.Leu246Gln) | |
| 22 | g.50626049G>A | CA515248917 | ARSA | c.994C>T (p.Leu332=) c.736C>T (p.Leu246=) | gnomAD v4 |
| 22 | g.50626049G>C | CA412172498 | ARSA | c.994C>G (p.Leu332Val) c.736C>G (p.Leu246Val) | |
| 22 | g.50626049G>T | CA412172501 | ARSA | c.994C>A (p.Leu332Met) c.736C>A (p.Leu246Met) | gnomAD v4 COSMIC |
| 22 | g.50626050C>A | CA412172506 | ARSA | c.993G>T (p.Glu331Asp) c.735G>T (p.Glu245Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626050C= | CA2410958810 | ARSA | c.993G= (p.Glu331=) c.735G= (p.Glu245=) | |
| 22 | g.50626050C>G | CA412172508 | ARSA | c.993G>C (p.Glu331Asp) c.735G>C (p.Glu245Asp) | |
| 22 | g.50626050C>T | CA515248918 | ARSA | c.993G>A (p.Glu331=) c.735G>A (p.Glu245=) | gnomAD v4 |
| 22 | g.50626050dup | CA2657592219 | ARSA | c.993dup (p.Leu332AlafsTer28) c.735dup (p.Leu246AlafsTer28) | gnomAD v4 |
| 22 | g.50626051T>A | CA412172510 | ARSA | c.992A>T (p.Glu331Val) c.734A>T (p.Glu245Val) | |
| 22 | g.50626051T>C | CA412172514 | ARSA | c.992A>G (p.Glu331Gly) c.734A>G (p.Glu245Gly) | ClinVar |
| 22 | g.50626051T>G | CA412172521 | ARSA | c.992A>C (p.Glu331Ala) c.734A>C (p.Glu245Ala) | |
| 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 |