| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50625952A>C | CA412171310 | ARSA | c.1091T>G (p.Leu364Arg) c.833T>G (p.Leu278Arg) | |
| 22 | g.50625952A>G | CA412171314 | ARSA | c.1091T>C (p.Leu364Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
| 22 | g.50625952A>T | CA412171315 | ARSA | c.1091T>A (p.Leu364Gln) c.833T>A (p.Leu278Gln) | gnomAD v4 |
| 22 | g.50625953G>A | CA515248834 | ARSA | c.1090C>T (p.Leu364=) c.832C>T (p.Leu278=) | gnomAD v4 |
| 22 | g.50625953G>C | CA412171320 | ARSA | c.1090C>G (p.Leu364Val) c.832C>G (p.Leu278Val) | |
| 22 | g.50625953G>T | CA412171318 | ARSA | c.1090C>A (p.Leu364Met) c.832C>A (p.Leu278Met) | gnomAD v4 |
| 22 | g.50625954C>A | CA515248835 | ARSA | c.1089G>T (p.Leu363=) c.831G>T (p.Leu277=) | gnomAD v4 |
| 22 | g.50625954C= | CA2410958753 | ARSA | c.1089G= (p.Leu363=) c.831G= (p.Leu277=) | |
| 22 | g.50625954C>G | CA515248836 | ARSA | c.1089G>C (p.Leu363=) c.831G>C (p.Leu277=) | ClinVar dbSNP |
| 22 | g.50625954C>T | CA515248837 | ARSA | c.1089G>A (p.Leu363=) c.831G>A (p.Leu277=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625955A= | CA2410958754 | ARSA | c.1088T= (p.Leu363=) c.830T= (p.Leu277=) | |
| 22 | g.50625955A>C | CA412171325 | ARSA | c.1088T>G (p.Leu363Arg) c.830T>G (p.Leu277Arg) | |
| 22 | g.50625955A>G | CA412171330 | ARSA | c.1088T>C (p.Leu363Pro) c.830T>C (p.Leu277Pro) | gnomAD v4 |
| 22 | g.50625955A>T | CA412171334 | ARSA | c.1088T>A (p.Leu363Gln) c.830T>A (p.Leu277Gln) | |
| 22 | g.50625956G>A | CA515248838 | ARSA | c.1087C>T (p.Leu363=) c.829C>T (p.Leu277=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625956G>C | CA412171342 | ARSA | c.1087C>G (p.Leu363Val) c.829C>G (p.Leu277Val) | |
| 22 | g.50625956G= | CA2410958755 | ARSA | c.1087C= (p.Leu363=) c.829C= (p.Leu277=) | |
| 22 | g.50625956G>T | CA412171347 | ARSA | c.1087C>A (p.Leu363Met) c.829C>A (p.Leu277Met) | dbSNP gnomAD v4 |
| 22 | g.50625960dup | CA916083827 | ARSA | c.1087dup (p.Leu363ProfsTer?) c.829dup (p.Leu277ProfsTer?) | ClinVar dbSNP |
| 22 | g.50625960del | CA645612057 | ARSA | c.1087del (p.Leu363CysfsTer?) c.829del (p.Leu277CysfsTer?) c.1087del (p.Leu363CysfsTer12) | COSMIC |
| 22 | g.50625957G>A | CA515248839 | ARSA | c.1086C>T (p.Pro362=) c.828C>T (p.Pro276=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625957G>C | CA515248840 | ARSA | c.1086C>G (p.Pro362=) c.828C>G (p.Pro276=) | |
| 22 | g.50625957G= | CA2410958756 | ARSA | c.1086C= (p.Pro362=) c.828C= (p.Pro276=) | |
| 22 | g.50625957G>T | CA515248841 | ARSA | c.1086C>A (p.Pro362=) c.828C>A (p.Pro276=) | gnomAD v4 |
| 22 | g.50625958G>A | CA412171348 | ARSA | c.1085C>T (p.Pro362Leu) c.827C>T (p.Pro276Leu) | |
| 22 | g.50625958G>C | CA412171349 | ARSA | c.1085C>G (p.Pro362Arg) c.827C>G (p.Pro276Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625958G= | CA2410958757 | ARSA | c.1085C= (p.Pro362=) c.827C= (p.Pro276=) | |
| 22 | g.50625958G>T | CA412171353 | ARSA | c.1085C>A (p.Pro362His) c.827C>A (p.Pro276His) | gnomAD v4 |
| 22 | g.50625959G>A | CA412171363 | ARSA | c.1084C>T (p.Pro362Ser) c.826C>T (p.Pro276Ser) | |
| 22 | g.50625959G>C | CA412171383 | ARSA | c.1084C>G (p.Pro362Ala) c.826C>G (p.Pro276Ala) | |
| 22 | g.50625959G>T | CA412171396 | ARSA | c.1084C>A (p.Pro362Thr) c.826C>A (p.Pro276Thr) | |
| 22 | g.50625959_50625961delinsGGC | CA2410958758 | ARSA | c.1082_1084delinsGCC (p.Ser361=) c.824_826delinsGCC (p.Ser275=) | |
| 22 | g.50625960G>A | CA515248842 | ARSA | c.1083C>T (p.Ser361=) c.825C>T (p.Ser275=) | |
| 22 | g.50625960G>C | CA412171398 | ARSA | c.1083C>G (p.Ser361Arg) c.825C>G (p.Ser275Arg) | |
| 22 | g.50625960G= | CA2410958759 | ARSA | c.1083C= (p.Ser361=) c.825C= (p.Ser275=) | |
| 22 | g.50625960G>T | CA412171402 | ARSA | c.1083C>A (p.Ser361Arg) c.825C>A (p.Ser275Arg) | dbSNP gnomAD v4 |
| 22 | g.50625960_50625961del | CA2410958760 | ARSA | c.1082_1083del (p.Ser361ThrfsTer?) c.824_825del (p.Ser275ThrfsTer?) | dbSNP |
| 22 | g.50625961C>A | CA412171417 | ARSA | c.1082G>T (p.Ser361Ile) c.824G>T (p.Ser275Ile) | gnomAD v4 |
| 22 | g.50625961C= | CA2410958761 | ARSA | c.1082G= (p.Ser361=) c.824G= (p.Ser275=) | |
| 22 | g.50625961C>G | CA412171428 | ARSA | c.1082G>C (p.Ser361Thr) c.824G>C (p.Ser275Thr) | |
| 22 | g.50625961C>T | CA412171407 | ARSA | c.1082G>A (p.Ser361Asn) c.824G>A (p.Ser275Asn) | dbSNP |
| 22 | g.50625962T>A | CA412171433 | ARSA | c.1081A>T (p.Ser361Cys) c.823A>T (p.Ser275Cys) | |
| 22 | g.50625962T>C | CA412171430 | ARSA | c.1081A>G (p.Ser361Gly) c.823A>G (p.Ser275Gly) | |
| 22 | g.50625962T>G | CA412171431 | ARSA | c.1081A>C (p.Ser361Arg) c.823A>C (p.Ser275Arg) | |
| 22 | g.50625963G>A | CA515248845 | ARSA | c.1080C>T (p.Leu360=) c.822C>T (p.Leu274=) | gnomAD v4 |
| 22 | g.50625963G>C | CA515248843 | ARSA | c.1080C>G (p.Leu360=) c.822C>G (p.Leu274=) | |
| 22 | g.50625963G>T | CA515248844 | ARSA | c.1080C>A (p.Leu360=) c.822C>A (p.Leu274=) | |
| 22 | g.50625964A= | CA2410958763 | ARSA | c.1079T= (p.Leu360=) c.821T= (p.Leu274=) | |
| 22 | g.50625964A>C | CA412171437 | ARSA | c.1079T>G (p.Leu360Arg) c.821T>G (p.Leu274Arg) | |
| 22 | g.50625964A>G | CA412171445 | ARSA | c.1079T>C (p.Leu360Pro) c.821T>C (p.Leu274Pro) | ClinVar dbSNP |