| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626144G>A | CA640358666 | ARSA | c.979+10C>T (n.979+10C>T) c.721+10C>T (n.721+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626144G= | CA2410958871 | ARSA | c.979+10C= (n.979+10C=) c.721+10C= (n.721+10C=) | |
| 22 | g.50626144G>T | CA2657592348 | ARSA | c.979+10C>A (n.979+10C>A) c.721+10C>A (n.721+10C>A) | gnomAD v4 |
| 22 | g.50626145C>A | CA2410958873 | ARSA | c.979+9G>T (n.979+9G>T) c.721+9G>T (n.721+9G>T) | dbSNP gnomAD v4 |
| 22 | g.50626145C= | CA2410958872 | ARSA | c.979+9G= (n.979+9G=) c.721+9G= (n.721+9G=) | |
| 22 | g.50626145C>T | CA10324860 | ARSA | c.979+9G>A (n.979+9G>A) c.721+9G>A (n.721+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626146G>A | CA10324861 | ARSA | c.979+8C>T (n.979+8C>T) c.721+8C>T (n.721+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626146G= | CA2410958874 | ARSA | c.979+8C= (n.979+8C=) c.721+8C= (n.721+8C=) | |
| 22 | g.50626147G>T | CA2657592350 | ARSA | c.979+7C>A (n.979+7C>A) c.721+7C>A (n.721+7C>A) | gnomAD v4 |
| 22 | g.50626148A>T | CA2657592351 | ARSA | c.979+6T>A (n.979+6T>A) c.721+6T>A (n.721+6T>A) | gnomAD v4 |
| 22 | g.50626149C= | CA2410958875 | ARSA | c.979+5G= (n.979+5G=) c.721+5G= (n.721+5G=) | |
| 22 | g.50626149C>T | CA640358667 | ARSA | c.979+5G>A (n.979+5G>A) c.721+5G>A (n.721+5G>A) | dbSNP gnomAD v2 |
| 22 | g.50626150_50626154delinsTGACC | CA2410958876 | ARSA | c.979_979+4delinsGGTCA c.721_721+4delinsGGTCA | |
| 22 | g.50626151G>A | CA2410958878 | ARSA | c.979+3C>T (n.979+3C>T) c.721+3C>T (n.721+3C>T) | dbSNP gnomAD v4 |
| 22 | g.50626151G>C | CA2657592353 | ARSA | c.979+3C>G (n.979+3C>G) c.721+3C>G (n.721+3C>G) | gnomAD v4 |
| 22 | g.50626151G= | CA2410958877 | ARSA | c.979+3C= (n.979+3C=) c.721+3C= (n.721+3C=) | |
| 22 | g.50626152_50626155del | CA16042036 | ARSA | c.979_979+3del c.721_721+3del | ClinVar dbSNP |
| 22 | g.50626152A>C | CA412174187 | ARSA | c.979+2T>G (n.979+2T>G) c.721+2T>G (n.721+2T>G) | gnomAD v4 |
| 22 | g.50626152A>G | CA412174190 | ARSA | c.979+2T>C (n.979+2T>C) c.721+2T>C (n.721+2T>C) | |
| 22 | g.50626152A>T | CA412174195 | ARSA | c.979+2T>A (n.979+2T>A) c.721+2T>A (n.721+2T>A) | |
| 22 | g.50626153C>A | CA10324862 | ARSA | c.979+1G>T (n.979+1G>T) c.721+1G>T (n.721+1G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626153C= | CA2410958879 | ARSA | c.979+1G= (n.979+1G=) c.721+1G= (n.721+1G=) | |
| 22 | g.50626153C>G | CA412174203 | ARSA | c.979+1G>C (n.979+1G>C) c.721+1G>C (n.721+1G>C) | |
| 22 | g.50626153C>T | CA278479 | ARSA | c.979+1G>A (n.979+1G>A) c.721+1G>A (n.721+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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) |