Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50626150_50626154delinsTGACC | CA2410958876 | ARSA | c.979_979+4delinsGGTCA c.721_721+4delinsGGTCA | |
22 | g.50626152_50626155del | CA16042036 | ARSA | c.979_979+3del c.721_721+3del | ClinVar dbSNP |
22 | g.50626154C>A | CA412174211 | ARSA | c.979G>T (p.Gly327Cys) c.721G>T (p.Gly241Cys) | ClinVar dbSNP gnomAD v4 |
22 | g.50626154C= | CA2410958880 | ARSA | c.979G= (p.Gly327=) c.721G= (p.Gly241=) | |
22 | g.50626154C>G | CA412174214 | ARSA | c.979G>C (p.Gly327Arg) c.721G>C (p.Gly241Arg) | |
22 | g.50626154C>T | CA10324863 | ARSA | c.979G>A (p.Gly327Ser) c.721G>A (p.Gly241Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626155G>A | CA515248931 | ARSA | c.978C>T (p.Pro326=) c.720C>T (p.Pro240=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626155G>C | CA515248932 | ARSA | c.978C>G (p.Pro326=) c.720C>G (p.Pro240=) | gnomAD v4 COSMIC |
22 | g.50626155G= | CA2410958881 | ARSA | c.978C= (p.Pro326=) c.720C= (p.Pro240=) | |
22 | g.50626155G>T | CA515248930 | ARSA | c.978C>A (p.Pro326=) c.720C>A (p.Pro240=) | |
22 | g.50626157del | CA2657592355 | ARSA | c.978del (p.Gly327AlafsTer2) c.720del (p.Gly241AlafsTer2) | gnomAD v4 |
22 | g.50626156G>A | CA412174222 | ARSA | c.977C>T (p.Pro326Leu) c.719C>T (p.Pro240Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50626156G>C | CA412174226 | ARSA | c.977C>G (p.Pro326Arg) c.719C>G (p.Pro240Arg) | |
22 | g.50626156G= | CA2410958882 | ARSA | c.977C= (p.Pro326=) c.719C= (p.Pro240=) | |
22 | g.50626156G>T | CA412174229 | ARSA | c.977C>A (p.Pro326His) c.719C>A (p.Pro240His) | |
22 | g.50626157G>A | CA412174235 | ARSA | c.976C>T (p.Pro326Ser) c.718C>T (p.Pro240Ser) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50626157G>C | CA412174238 | ARSA | c.976C>G (p.Pro326Ala) c.718C>G (p.Pro240Ala) | |
22 | g.50626157G= | CA2410958883 | ARSA | c.976C= (p.Pro326=) c.718C= (p.Pro240=) | |
22 | g.50626157G>T | CA412174233 | ARSA | c.976C>A (p.Pro326Thr) c.718C>A (p.Pro240Thr) | |
22 | g.50626158A>C | CA515248935 | ARSA | c.975T>G (p.Ala325=) c.717T>G (p.Ala239=) | |
22 | g.50626158A>G | CA515248933 | ARSA | c.975T>C (p.Ala325=) c.717T>C (p.Ala239=) | |
22 | g.50626158A>T | CA515248934 | ARSA | c.975T>A (p.Ala325=) c.717T>A (p.Ala239=) | |
22 | g.50626159G>A | CA412174245 | ARSA | c.974C>T (p.Ala325Val) c.716C>T (p.Ala239Val) | |
22 | g.50626159G>C | CA412174241 | ARSA | c.974C>G (p.Ala325Gly) c.716C>G (p.Ala239Gly) | |
22 | g.50626159G>T | CA412174243 | ARSA | c.974C>A (p.Ala325Asp) c.716C>A (p.Ala239Asp) | |
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) |