| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626160C>A | CA412174250 | ARSA | c.973G>T (p.Ala325Ser) c.715G>T (p.Ala239Ser) | gnomAD v4 |
| 22 | g.50626160C= | CA2410958884 | ARSA | c.973G= (p.Ala325=) c.715G= (p.Ala239=) | |
| 22 | g.50626160C>G | CA412174253 | ARSA | c.973G>C (p.Ala325Pro) c.715G>C (p.Ala239Pro) | |
| 22 | g.50626160C>T | CA10324864 | ARSA | c.973G>A (p.Ala325Thr) c.715G>A (p.Ala239Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626161G>A | CA10324865 | ARSA | c.972C>T (p.Ile324=) c.714C>T (p.Ile238=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626161G>C | CA412174262 | ARSA | c.972C>G (p.Ile324Met) c.714C>G (p.Ile238Met) | |
| 22 | g.50626161G= | CA2410958885 | ARSA | c.972C= (p.Ile324=) c.714C= (p.Ile238=) | |
| 22 | g.50626161G>T | CA515248936 | ARSA | c.972C>A (p.Ile324=) c.714C>A (p.Ile238=) | gnomAD v4 |
| 22 | g.50626162A= | CA2410958886 | ARSA | c.971T= (p.Ile324=) c.713T= (p.Ile238=) | |
| 22 | g.50626162A>C | CA412174266 | ARSA | c.971T>G (p.Ile324Ser) c.713T>G (p.Ile238Ser) | |
| 22 | g.50626162A>G | CA412174267 | ARSA | c.971T>C (p.Ile324Thr) c.713T>C (p.Ile238Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626162A>T | CA412174268 | ARSA | c.971T>A (p.Ile324Asn) c.713T>A (p.Ile238Asn) | |
| 22 | g.50626163T>A | CA412174271 | ARSA | c.970A>T (p.Ile324Phe) c.712A>T (p.Ile238Phe) | ClinVar |
| 22 | g.50626163T>C | CA325531328 | ARSA | c.970A>G (p.Ile324Val) c.712A>G (p.Ile238Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626163T>G | CA412174276 | ARSA | c.970A>C (p.Ile324Leu) c.712A>C (p.Ile238Leu) | |
| 22 | g.50626163T= | CA2410958887 | ARSA | c.970A= (p.Ile324=) c.712A= (p.Ile238=) | |
| 22 | g.50626164A>C | CA412174282 | ARSA | c.969T>G (p.His323Gln) c.711T>G (p.His237Gln) | |
| 22 | g.50626164A>G | CA515248937 | ARSA | c.969T>C (p.His323=) c.711T>C (p.His237=) | |
| 22 | g.50626164A>T | CA412174279 | ARSA | c.969T>A (p.His323Gln) c.711T>A (p.His237Gln) | |
| 22 | g.50626165T>A | CA412174289 | ARSA | c.968A>T (p.His323Leu) c.710A>T (p.His237Leu) | |
| 22 | g.50626165T>C | CA412174293 | ARSA | c.968A>G (p.His323Arg) c.710A>G (p.His237Arg) | gnomAD v4 |
| 22 | g.50626165T>G | CA325531329 | ARSA | c.968A>C (p.His323Pro) c.710A>C (p.His237Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626165T= | CA2410958888 | ARSA | c.968A= (p.His323=) c.710A= (p.His237=) | |
| 22 | g.50626166G>A | CA325531330 | ARSA | c.967C>T (p.His323Tyr) c.709C>T (p.His237Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626166G>C | CA412174303 | ARSA | c.967C>G (p.His323Asp) c.709C>G (p.His237Asp) | |
| 22 | g.50626166G= | CA2410958889 | ARSA | c.967C= (p.His323=) c.709C= (p.His237=) | |
| 22 | g.50626166G>T | CA412174310 | ARSA | c.967C>A (p.His323Asn) c.709C>A (p.His237Asn) | |
| 22 | g.50626167A>C | CA515248938 | ARSA | c.966T>G (p.Gly322=) c.708T>G (p.Gly236=) | |
| 22 | g.50626167A>G | CA515248939 | ARSA | c.966T>C (p.Gly322=) c.708T>C (p.Gly236=) | |
| 22 | g.50626167A>T | CA515248940 | ARSA | c.966T>A (p.Gly322=) c.708T>A (p.Gly236=) | |
| 22 | g.50626168C>A | CA412174314 | ARSA | c.965G>T (p.Gly322Val) c.707G>T (p.Gly236Val) | |
| 22 | g.50626168C= | CA2410958890 | ARSA | c.965G= (p.Gly322=) c.707G= (p.Gly236=) | |
| 22 | g.50626168C>G | CA412174317 | ARSA | c.965G>C (p.Gly322Ala) c.707G>C (p.Gly236Ala) | |
| 22 | g.50626168C>T | CA10324866 | ARSA | c.965G>A (p.Gly322Asp) c.707G>A (p.Gly236Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626169C>A | CA412174321 | ARSA | c.964G>T (p.Gly322Cys) c.706G>T (p.Gly236Cys) | |
| 22 | g.50626169C>G | CA412174327 | ARSA | c.964G>C (p.Gly322Arg) c.706G>C (p.Gly236Arg) | |
| 22 | g.50626169C>T | CA412174329 | ARSA | c.964G>A (p.Gly322Ser) c.706G>A (p.Gly236Ser) | gnomAD v4 |
| 22 | g.50626170T>A | CA515248941 | ARSA | c.963A>T (p.Pro321=) c.705A>T (p.Pro235=) | |
| 22 | g.50626170T>C | CA325531332 | ARSA | c.963A>G (p.Pro321=) c.705A>G (p.Pro235=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626170T>G | CA515248942 | ARSA | c.963A>C (p.Pro321=) c.705A>C (p.Pro235=) | |
| 22 | g.50626170T= | CA2410958892 | ARSA | c.963A= (p.Pro321=) c.705A= (p.Pro235=) | |
| 22 | g.50626170_50626178delinsTGGCCAGAA | CA2410958891 | ARSA | c.955_963delinsTTCTGGCCA (p.Phe319=) c.697_705delinsTTCTGGCCA (p.Phe233=) | |
| 22 | g.50626171G>A | CA412174343 | ARSA | c.962C>T (p.Pro321Leu) c.704C>T (p.Pro235Leu) | |
| 22 | g.50626171G>C | CA412174339 | ARSA | c.962C>G (p.Pro321Arg) c.704C>G (p.Pro235Arg) | |
| 22 | g.50626171G>T | CA412174344 | ARSA | c.962C>A (p.Pro321Gln) c.704C>A (p.Pro235Gln) | |
| 22 | g.50626176_50626183del | CA10324867 | ARSA | c.955_962del (p.Phe319ArgfsTer?) c.697_704del (p.Phe233ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626172G>A | CA412174347 | ARSA | c.961C>T (p.Pro321Ser) c.703C>T (p.Pro235Ser) | COSMIC |
| 22 | g.50626172G>C | CA412174350 | ARSA | c.961C>G (p.Pro321Ala) c.703C>G (p.Pro235Ala) | |
| 22 | g.50626172G>T | CA412174351 | ARSA | c.961C>A (p.Pro321Thr) c.703C>A (p.Pro235Thr) | |
| 22 | g.50626173C>A | CA412174352 | ARSA | c.960G>T (p.Trp320Cys) c.702G>T (p.Trp234Cys) |