UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626126del | CA2577767910 | ARSA | c.979+30del (n.979+30del) c.721+30del (n.721+30del) | gnomAD v4 |
| 22 | g.50626125G>C | CA2503675087 | ARSA | c.979+29C>G (n.979+29C>G) c.721+29C>G (n.721+29C>G) | gnomAD v4 |
| 22 | g.50626125G>T | CA2657592338 | ARSA | c.979+29C>A (n.979+29C>A) c.721+29C>A (n.721+29C>A) | gnomAD v4 |
| 22 | g.50626126G>A | CA754068647 | ARSA | c.979+28C>T (n.979+28C>T) c.721+28C>T (n.721+28C>T) | dbSNP gnomAD v4 |
| 22 | g.50626126G>C | CA2657592340 | ARSA | c.979+28C>G (n.979+28C>G) c.721+28C>G (n.721+28C>G) | gnomAD v4 |
| 22 | g.50626126G= | CA2410958859 | ARSA | c.979+28C= (n.979+28C=) c.721+28C= (n.721+28C=) | |
| 22 | g.50626126G>T | CA2657592339 | ARSA | c.979+28C>A (n.979+28C>A) c.721+28C>A (n.721+28C>A) | gnomAD v4 |
| 22 | g.50626128T>C | CA325531323 | ARSA | c.979+26A>G (n.979+26A>G) c.721+26A>G (n.721+26A>G) | dbSNP gnomAD v4 |
| 22 | g.50626128T= | CA2410958860 | ARSA | c.979+26A= (n.979+26A=) c.721+26A= (n.721+26A=) | |
| 22 | g.50626132A>G | CA2657592341 | ARSA | c.979+22T>C (n.979+22T>C) c.721+22T>C (n.721+22T>C) | gnomAD v4 |
| 22 | g.50626133G>A | CA10324856 | ARSA | c.979+21C>T (n.979+21C>T) c.721+21C>T (n.721+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626133G= | CA2410958861 | ARSA | c.979+21C= (n.979+21C=) c.721+21C= (n.721+21C=) | |
| 22 | g.50626134G>A | CA640358665 | ARSA | c.979+20C>T (n.979+20C>T) c.721+20C>T (n.721+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626134G= | CA2410958862 | ARSA | c.979+20C= (n.979+20C=) c.721+20C= (n.721+20C=) | |
| 22 | g.50626134G>T | CA1026680647 | ARSA | c.979+20C>A (n.979+20C>A) c.721+20C>A (n.721+20C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626136G>A | CA10324857 | ARSA | c.979+18C>T (n.979+18C>T) c.721+18C>T (n.721+18C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 22 | g.50626136G>C | CA2410958864 | ARSA | c.979+18C>G (n.979+18C>G) c.721+18C>G (n.721+18C>G) | dbSNP |
| 22 | g.50626136G= | CA2410958863 | ARSA | c.979+18C= (n.979+18C=) c.721+18C= (n.721+18C=) | |
| 22 | g.50626136G>T | CA2657592342 | ARSA | c.979+18C>A (n.979+18C>A) c.721+18C>A (n.721+18C>A) | gnomAD v4 |
| 22 | g.50626137A= | CA2410958866 | ARSA | c.979+17T= (n.979+17T=) c.721+17T= (n.721+17T=) | |
| 22 | g.50626137A>C | CA2410958865 | ARSA | c.979+17T>G (n.979+17T>G) c.721+17T>G (n.721+17T>G) | dbSNP |
| 22 | g.50626138G>A | CA2657592343 | ARSA | c.979+16C>T (n.979+16C>T) c.721+16C>T (n.721+16C>T) | gnomAD v4 |
| 22 | g.50626138G>T | CA2657592344 | ARSA | c.979+16C>A (n.979+16C>A) c.721+16C>A (n.721+16C>A) | gnomAD v4 |
| 22 | g.50626139G>A | CA325531325 | ARSA | c.979+15C>T (n.979+15C>T) c.721+15C>T (n.721+15C>T) | dbSNP gnomAD v4 |
| 22 | g.50626139G>C | CA2657592345 | ARSA | c.979+15C>G (n.979+15C>G) c.721+15C>G (n.721+15C>G) | gnomAD v4 |
| 22 | g.50626139G= | CA2410958867 | ARSA | c.979+15C= (n.979+15C=) c.721+15C= (n.721+15C=) | |
| 22 | g.50626139G>T | CA2410958868 | ARSA | c.979+15C>A (n.979+15C>A) c.721+15C>A (n.721+15C>A) | dbSNP gnomAD v4 |
| 22 | g.50626140G>A | CA754068655 | ARSA | c.979+14C>T (n.979+14C>T) c.721+14C>T (n.721+14C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626140G= | CA2410958869 | ARSA | c.979+14C= (n.979+14C=) c.721+14C= (n.721+14C=) | |
| 22 | g.50626140G>T | CA2657592346 | ARSA | c.979+14C>A (n.979+14C>A) c.721+14C>A (n.721+14C>A) | gnomAD v4 |
| 22 | g.50626141C>A | CA2499226241 | ARSA | c.979+13G>T (n.979+13G>T) c.721+13G>T (n.721+13G>T) | ClinVar dbSNP |
| 22 | g.50626141C= | CA2410958870 | ARSA | c.979+13G= (n.979+13G=) c.721+13G= (n.721+13G=) | |
| 22 | g.50626141C>G | CA10324858 | ARSA | c.979+13G>C (n.979+13G>C) c.721+13G>C (n.721+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626141C>T | CA10324859 | ARSA | c.979+13G>A (n.979+13G>A) c.721+13G>A (n.721+13G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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) | |
| 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) | |
| 22 | g.50626173C= | CA2410958893 | ARSA | c.960G= (p.Trp320=) c.702G= (p.Trp234=) | |
| 22 | g.50626173C>G | CA412174354 | ARSA | c.960G>C (p.Trp320Cys) c.702G>C (p.Trp234Cys) | |
| 22 | g.50626173C>T | CA412174356 | ARSA | c.960G>A (p.Trp320Ter) c.702G>A (p.Trp234Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626174C>A | CA412174359 | ARSA | c.959G>T (p.Trp320Leu) c.701G>T (p.Trp234Leu) | |
| 22 | g.50626174C= | CA2410958894 | ARSA | c.959G= (p.Trp320=) c.701G= (p.Trp234=) | |
| 22 | g.50626174C>G | CA412174361 | ARSA | c.959G>C (p.Trp320Ser) c.701G>C (p.Trp234Ser) | dbSNP |
| 22 | g.50626174C>T | CA412174362 | ARSA | c.959G>A (p.Trp320Ter) c.701G>A (p.Trp234Ter) | |
| 22 | g.50626174_50626177delinsCAGA | CA2410958895 | ARSA | c.956_959delinsTCTG (p.Phe319=) c.698_701delinsTCTG (p.Phe233=) | |
| 22 | g.50626175A= | CA2410958896 | ARSA | c.958T= (p.Trp320=) c.700T= (p.Trp234=) | |
| 22 | g.50626175A>C | CA10324868 | ARSA | c.958T>G (p.Trp320Gly) c.700T>G (p.Trp234Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626175A>G | CA412174369 | ARSA | c.958T>C (p.Trp320Arg) c.700T>C (p.Trp234Arg) | |
| 22 | g.50626175A>T | CA412174372 | ARSA | c.958T>A (p.Trp320Arg) c.700T>A (p.Trp234Arg) | |
| 22 | g.50626177_50626179del | CA1139667193 | ARSA | c.956_958del (p.Phe319del) c.698_700del (p.Phe233del) | ClinVar dbSNP |
| 22 | g.50626176G>A | CA515248943 | ARSA | c.957C>T (p.Phe319=) c.699C>T (p.Phe233=) | gnomAD v4 |
| 22 | g.50626176G>C | CA412174377 | ARSA | c.957C>G (p.Phe319Leu) c.699C>G (p.Phe233Leu) | gnomAD v4 |
| 22 | g.50626176G>T | CA412174375 | ARSA | c.957C>A (p.Phe319Leu) c.699C>A (p.Phe233Leu) | |
| 22 | g.50626177A= | CA2410958897 | ARSA | c.956T= (p.Phe319=) c.698T= (p.Phe233=) | |
| 22 | g.50626177A>C | CA412174383 | ARSA | c.956T>G (p.Phe319Cys) c.698T>G (p.Phe233Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626177A>G | CA412174384 | ARSA | c.956T>C (p.Phe319Ser) c.698T>C (p.Phe233Ser) | |
| 22 | g.50626177A>T | CA412174388 | ARSA | c.956T>A (p.Phe319Tyr) c.698T>A (p.Phe233Tyr) | |
| 22 | g.50626178del | CA645612058 | ARSA | c.956del (p.Phe319SerfsTer10) c.698del (p.Phe233SerfsTer10) | COSMIC |
| 22 | g.50626178A>C | CA412174391 | ARSA | c.955T>G (p.Phe319Val) c.697T>G (p.Phe233Val) | |
| 22 | g.50626178A>G | CA412174394 | ARSA | c.955T>C (p.Phe319Leu) c.697T>C (p.Phe233Leu) | |
| 22 | g.50626178A>T | CA412174396 | ARSA | c.955T>A (p.Phe319Ile) c.697T>A (p.Phe233Ile) | |
| 22 | g.50626178_50626179insTCAAGGCA | CA2580099935 | ARSA | c.955_956insGCCTTGAT (p.Phe319CysfsTer13) c.697_698insGCCTTGAT (p.Phe233CysfsTer13) | ClinVar |
| 22 | g.50626179G>A | CA515248944 | ARSA | c.954C>T (p.Ala318=) c.696C>T (p.Ala232=) | gnomAD v4 |
| 22 | g.50626179G>C | CA515248946 | ARSA | c.954C>G (p.Ala318=) c.696C>G (p.Ala232=) | |
| 22 | g.50626179G>T | CA515248945 | ARSA | c.954C>A (p.Ala318=) c.696C>A (p.Ala232=) | gnomAD v4 |
| 22 | g.50626180G>A | CA325531333 | ARSA | c.953C>T (p.Ala318Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626180G>C | CA412174400 | ARSA | c.953C>G (p.Ala318Gly) c.695C>G (p.Ala232Gly) | |
| 22 | g.50626180G= | CA2410958898 | ARSA | c.953C= (p.Ala318=) c.695C= (p.Ala232=) | |
| 22 | g.50626180G>T | CA412174404 | ARSA | c.953C>A (p.Ala318Asp) c.695C>A (p.Ala232Asp) | |
| 22 | g.50626181C>A | CA412174407 | ARSA | c.952G>T (p.Ala318Ser) c.694G>T (p.Ala232Ser) | |
| 22 | g.50626181C>G | CA412174410 | ARSA | c.952G>C (p.Ala318Pro) c.694G>C (p.Ala232Pro) | |
| 22 | g.50626181C>T | CA412174414 | ARSA | c.952G>A (p.Ala318Thr) c.694G>A (p.Ala232Thr) | |
| 22 | g.50626182C>A | CA412174419 | ARSA | c.951G>T (p.Leu317Phe) c.693G>T (p.Leu231Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626182C= | CA2410958899 | ARSA | c.951G= (p.Leu317=) c.693G= (p.Leu231=) | |
| 22 | g.50626182C>G | CA412174423 | ARSA | c.951G>C (p.Leu317Phe) c.693G>C (p.Leu231Phe) | |
| 22 | g.50626182C>T | CA515248948 | ARSA | c.951G>A (p.Leu317=) c.693G>A (p.Leu231=) | ClinVar |
| 22 | g.50626183A>C | CA412174425 | ARSA | c.950T>G (p.Leu317Trp) c.692T>G (p.Leu231Trp) | |
| 22 | g.50626183A>G | CA412174427 | ARSA | c.950T>C (p.Leu317Ser) c.692T>C (p.Leu231Ser) | |
| 22 | g.50626183A>T | CA412174424 | ARSA | c.950T>A (p.Leu317Ter) c.692T>A (p.Leu231Ter) | |
| 22 | g.50626184A= | CA2410958900 | ARSA | c.949T= (p.Leu317=) c.691T= (p.Leu231=) | |
| 22 | g.50626184A>C | CA412174432 | ARSA | c.949T>G (p.Leu317Val) c.691T>G (p.Leu231Val) | |
| 22 | g.50626184A>G | CA515248949 | ARSA | c.949T>C (p.Leu317=) c.691T>C (p.Leu231=) | ClinVar gnomAD v4 |
| 22 | g.50626184A>T | CA325531334 | ARSA | c.949T>A (p.Leu317Met) c.691T>A (p.Leu231Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626185G>A | CA515248950 | ARSA | c.948C>T (p.Ala316=) c.690C>T (p.Ala230=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626185G>C | CA515248951 | ARSA | c.948C>G (p.Ala316=) c.690C>G (p.Ala230=) | |
| 22 | g.50626185G= | CA2410958901 | ARSA | c.948C= (p.Ala316=) c.690C= (p.Ala230=) | |
| 22 | g.50626185G>T | CA515248952 | ARSA | c.948C>A (p.Ala316=) c.690C>A (p.Ala230=) | |
| 22 | g.50626186G>A | CA412174445 | ARSA | c.947C>T (p.Ala316Val) c.689C>T (p.Ala230Val) | |
| 22 | g.50626186G>C | CA412174437 | ARSA | c.947C>G (p.Ala316Gly) c.689C>G (p.Ala230Gly) | |
| 22 | g.50626186G= | CA2410958902 | ARSA | c.947C= (p.Ala316=) c.689C= (p.Ala230=) | |
| 22 | g.50626186G>T | CA412174440 | ARSA | c.947C>A (p.Ala316Asp) c.689C>A (p.Ala230Asp) | ClinVar dbSNP |
| 22 | g.50626187C>A | CA412174450 | ARSA | c.946G>T (p.Ala316Ser) c.688G>T (p.Ala230Ser) | |
| 22 | g.50626187C= | CA2410958903 | ARSA | c.946G= (p.Ala316=) c.688G= (p.Ala230=) | |
| 22 | g.50626187C>G | CA412174454 | ARSA | c.946G>C (p.Ala316Pro) c.688G>C (p.Ala230Pro) | |
| 22 | g.50626187C>T | CA219090 | ARSA | c.946G>A (p.Ala316Thr) c.688G>A (p.Ala230Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626188A>C | CA515248953 | ARSA | c.945T>G (p.Pro315=) c.687T>G (p.Pro229=) | |
| 22 | g.50626188A>G | CA515248954 | ARSA | c.945T>C (p.Pro315=) c.687T>C (p.Pro229=) | gnomAD v4 |
| 22 | g.50626188A>T | CA515248955 | ARSA | c.945T>A (p.Pro315=) c.687T>A (p.Pro229=) | |
| 22 | g.50626189G>A | CA412174457 | ARSA | c.944C>T (p.Pro315Leu) c.686C>T (p.Pro229Leu) | |
| 22 | g.50626189G>C | CA412174460 | ARSA | c.944C>G (p.Pro315Arg) c.686C>G (p.Pro229Arg) | |
| 22 | g.50626189G>T | CA412174463 | ARSA | c.944C>A (p.Pro315His) c.686C>A (p.Pro229His) | |
| 22 | g.50626190G>A | CA412174468 | ARSA | c.943C>T (p.Pro315Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
| 22 | g.50626190G>C | CA412174469 | ARSA | c.943C>G (p.Pro315Ala) c.685C>G (p.Pro229Ala) | |
| 22 | g.50626190G>T | CA412174470 | ARSA | c.943C>A (p.Pro315Thr) c.685C>A (p.Pro229Thr) | |
| 22 | g.50626191C>A | CA219088 | ARSA | c.942G>T (p.Glu314Asp) c.684G>T (p.Glu228Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626191C= | CA2410958904 | ARSA | c.942G= (p.Glu314=) c.684G= (p.Glu228=) | |
| 22 | g.50626191C>G | CA412174472 | ARSA | c.942G>C (p.Glu314Asp) c.684G>C (p.Glu228Asp) | |
| 22 | g.50626191C>T | CA515248956 | ARSA | c.942G>A (p.Glu314=) c.684G>A (p.Glu228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50626192T>A | CA412174478 | ARSA | c.941A>T (p.Glu314Val) c.683A>T (p.Glu228Val) | |
| 22 | g.50626192T>C | CA412174490 | ARSA | c.941A>G (p.Glu314Gly) c.683A>G (p.Glu228Gly) | |
| 22 | g.50626192T>G | CA412174494 | ARSA | c.941A>C (p.Glu314Ala) c.683A>C (p.Glu228Ala) | dbSNP |
| 22 | g.50626192T= | CA2410958905 | ARSA | c.941A= (p.Glu314=) c.683A= (p.Glu228=) | |
| 22 | g.50626193C>A | CA412174495 | ARSA | c.940G>T (p.Glu314Ter) c.682G>T (p.Glu228Ter) | |
| 22 | g.50626193C= | CA2410958906 | ARSA | c.940G= (p.Glu314=) c.682G= (p.Glu228=) | |
| 22 | g.50626193C>G | CA412174497 | ARSA | c.940G>C (p.Glu314Gln) c.682G>C (p.Glu228Gln) | |
| 22 | g.50626193C>T | CA325531336 | ARSA | c.940G>A (p.Glu314Lys) c.682G>A (p.Glu228Lys) | dbSNP |
| 22 | g.50626194T>A | CA515248957 | ARSA | c.939A>T (p.Arg313=) c.681A>T (p.Arg227=) | |
| 22 | g.50626194T>C | CA515248958 | ARSA | c.939A>G (p.Arg313=) c.681A>G (p.Arg227=) | |
| 22 | g.50626194T>G | CA515248959 | ARSA | c.939A>C (p.Arg313=) c.681A>C (p.Arg227=) | |
| 22 | g.50626195C>A | CA412174508 | ARSA | c.938G>T (p.Arg313Leu) c.680G>T (p.Arg227Leu) | ClinVar gnomAD v4 |
| 22 | g.50626195C= | CA2410958907 | ARSA | c.938G= (p.Arg313=) c.680G= (p.Arg227=) | |
| 22 | g.50626195C>G | CA412174511 | ARSA | c.938G>C (p.Arg313Pro) c.680G>C (p.Arg227Pro) | |
| 22 | g.50626195C>T | CA219086 | ARSA | c.938G>A (p.Arg313Gln) c.680G>A (p.Arg227Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626196G>A | CA325531338 | ARSA | c.937C>T (p.Arg313Ter) c.679C>T (p.Arg227Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626196G>C | CA10324870 | ARSA | c.937C>G (p.Arg313Gly) c.679C>G (p.Arg227Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626196G= | CA2410958908 | ARSA | c.937C= (p.Arg313=) c.679C= (p.Arg227=) | |
| 22 | g.50626196G>T | CA10324869 | ARSA | c.937C>A (p.Arg313=) c.679C>A (p.Arg227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626197dup | CA2580615339 | ARSA | c.937dup (p.Arg313ProfsTer?) c.679dup (p.Arg227ProfsTer?) | ClinVar |
| 22 | g.50626197G>A | CA515248960 | ARSA | c.936C>T (p.Val312=) c.678C>T (p.Val226=) | gnomAD v4 |
| 22 | g.50626197G>C | CA515248961 | ARSA | c.936C>G (p.Val312=) c.678C>G (p.Val226=) | gnomAD v4 |
| 22 | g.50626197G>T | CA515248962 | ARSA | c.936C>A (p.Val312=) c.678C>A (p.Val226=) | ClinVar gnomAD v4 |
| 22 | g.50626198A>C | CA412174528 | ARSA | c.935T>G (p.Val312Gly) c.677T>G (p.Val226Gly) | |
| 22 | g.50626198A>G | CA412174530 | ARSA | c.935T>C (p.Val312Ala) c.677T>C (p.Val226Ala) | |
| 22 | g.50626198A>T | CA412174524 | ARSA | c.935T>A (p.Val312Asp) c.677T>A (p.Val226Asp) | |
| 22 | g.50626199C>A | CA412174533 | ARSA | c.934G>T (p.Val312Phe) c.676G>T (p.Val226Phe) | |
| 22 | g.50626199C>G | CA412174536 | ARSA | c.934G>C (p.Val312Leu) c.676G>C (p.Val226Leu) | |
| 22 | g.50626199C>T | CA412174539 | ARSA | c.934G>A (p.Val312Ile) c.676G>A (p.Val226Ile) | gnomAD v4 |
| 22 | g.50626200A>C | CA515248963 | ARSA | c.933T>G (p.Gly311=) c.675T>G (p.Gly225=) | |
| 22 | g.50626200A>G | CA515248964 | ARSA | c.933T>C (p.Gly311=) c.675T>C (p.Gly225=) | |
| 22 | g.50626200A>T | CA515248965 | ARSA | c.933T>A (p.Gly311=) c.675T>A (p.Gly225=) | |
| 22 | g.50626201C>A | CA412174542 | ARSA | c.932G>T (p.Gly311Val) c.674G>T (p.Gly225Val) | |
| 22 | g.50626201C= | CA2410958909 | ARSA | c.932G= (p.Gly311=) c.674G= (p.Gly225=) | |
| 22 | g.50626201C>G | CA412174545 | ARSA | c.932G>C (p.Gly311Ala) c.674G>C (p.Gly225Ala) | |
| 22 | g.50626201C>T | CA10604712 | ARSA | c.932G>A (p.Gly311Asp) c.674G>A (p.Gly225Asp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626202C>A | CA412174553 | ARSA | c.931G>T (p.Gly311Cys) c.673G>T (p.Gly225Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626202C= | CA2410958910 | ARSA | c.931G= (p.Gly311=) c.673G= (p.Gly225=) | |
| 22 | g.50626202C>G | CA412174550 | ARSA | c.931G>C (p.Gly311Arg) c.673G>C (p.Gly225Arg) | ClinVar dbSNP |
| 22 | g.50626202C>T | CA115967 | ARSA | c.931G>A (p.Gly311Ser) c.673G>A (p.Gly225Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626203G>A | CA10324871 | ARSA | c.930C>T (p.Gly310=) c.672C>T (p.Gly224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626203G>C | CA515248966 | ARSA | c.930C>G (p.Gly310=) c.672C>G (p.Gly224=) | |
| 22 | g.50626203G= | CA2410958911 | ARSA | c.930C= (p.Gly310=) c.672C= (p.Gly224=) | |
| 22 | g.50626203G>T | CA515248967 | ARSA | c.930C>A (p.Gly310=) c.672C>A (p.Gly224=) | gnomAD v4 COSMIC |
| 22 | g.50626203_50626204delinsGC | CA2410958912 | ARSA | c.929_930delinsGC (p.Gly310=) c.671_672delinsGC (p.Gly224=) | |
| 22 | g.50626204C>A | CA219084 | ARSA | c.929G>T (p.Gly310Val) c.671G>T (p.Gly224Val) | ClinVar dbSNP |
| 22 | g.50626204C= | CA2410958913 | ARSA | c.929G= (p.Gly310=) c.671G= (p.Gly224=) | |
| 22 | g.50626204C>G | CA412174557 | ARSA | c.929G>C (p.Gly310Ala) c.671G>C (p.Gly224Ala) | |
| 22 | g.50626204C>T | CA219082 | ARSA | c.929G>A (p.Gly310Asp) c.671G>A (p.Gly224Asp) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626206del | CA16042037 | ARSA | c.929del (p.Gly310AlafsTer19) c.671del (p.Gly224AlafsTer19) | ClinVar dbSNP |
| 22 | g.50626205C>A | CA412174562 | ARSA | c.928G>T (p.Gly310Cys) c.670G>T (p.Gly224Cys) | ClinVar |
| 22 | g.50626205C>G | CA412174566 | ARSA | c.928G>C (p.Gly310Arg) c.670G>C (p.Gly224Arg) | |
| 22 | g.50626205C>T | CA412174565 | ARSA | c.928G>A (p.Gly310Ser) c.670G>A (p.Gly224Ser) | ClinVar |
| 22 | g.50626206C>A | CA412174569 | ARSA | c.927G>T (p.Glu309Asp) c.669G>T (p.Glu223Asp) | |
| 22 | g.50626206C= | CA2410958914 | ARSA | c.927G= (p.Glu309=) c.669G= (p.Glu223=) | |
| 22 | g.50626206C>G | CA412174572 | ARSA | c.927G>C (p.Glu309Asp) c.669G>C (p.Glu223Asp) | |
| 22 | g.50626206C>T | CA10324872 | ARSA | c.927G>A (p.Glu309=) c.669G>A (p.Glu223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626207T>A | CA412174579 | ARSA | c.926A>T (p.Glu309Val) c.668A>T (p.Glu223Val) | ClinVar dbSNP |
| 22 | g.50626207T>C | CA412174585 | ARSA | c.926A>G (p.Glu309Gly) c.668A>G (p.Glu223Gly) | ClinVar |
| 22 | g.50626207T>G | CA412174589 | ARSA | c.926A>C (p.Glu309Ala) c.668A>C (p.Glu223Ala) | |
| 22 | g.50626207T= | CA2410958915 | ARSA | c.926A= (p.Glu309=) c.668A= (p.Glu223=) | |
| 22 | g.50626207dup | CA913088704 | ARSA | c.926dup (p.Gly311ArgfsTer?) c.668dup (p.Gly225ArgfsTer?) | |
| 22 | g.50626208C>A | CA10324873 | ARSA | c.925G>T (p.Glu309Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C= | CA2410958916 | ARSA | c.925G= (p.Glu309=) c.667G= (p.Glu223=) | |
| 22 | g.50626208C>G | CA10324874 | ARSA | c.925G>C (p.Glu309Gln) c.667G>C (p.Glu223Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626208C>T | CA219080 | ARSA | c.925G>A (p.Glu309Lys) c.667G>A (p.Glu223Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626208dup | CA658824685 | ARSA | c.925dup (p.Glu309GlyfsTer?) c.667dup (p.Glu223GlyfsTer?) | ClinVar dbSNP |
| 22 | g.50626208_50626211dup | CA2695231027 | ARSA | c.922_925dup (p.Glu309ValfsTer?) c.664_667dup (p.Glu223ValfsTer?) | |
| 22 | g.50626209G>A | CA10324875 | ARSA | c.924C>T (p.Tyr308=) c.666C>T (p.Tyr222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626209G>C | CA412174606 | ARSA | c.924C>G (p.Tyr308Ter) c.666C>G (p.Tyr222Ter) | |
| 22 | g.50626209G= | CA2410958917 | ARSA | c.924C= (p.Tyr308=) c.666C= (p.Tyr222=) | |
| 22 | g.50626209G>T | CA412174610 | ARSA | c.924C>A (p.Tyr308Ter) c.666C>A (p.Tyr222Ter) | |
| 22 | g.50626210T>A | CA412174621 | ARSA | c.923A>T (p.Tyr308Phe) c.665A>T (p.Tyr222Phe) | |
| 22 | g.50626210T>C | CA412174619 | ARSA | c.923A>G (p.Tyr308Cys) c.665A>G (p.Tyr222Cys) | |
| 22 | g.50626210T>G | CA412174615 | ARSA | c.923A>C (p.Tyr308Ser) c.665A>C (p.Tyr222Ser) | |
| 22 | g.50626211A= | CA2410958918 | ARSA | c.922T= (p.Tyr308=) c.664T= (p.Tyr222=) | |
| 22 | g.50626211A>C | CA412174627 | ARSA | c.922T>G (p.Tyr308Asp) c.664T>G (p.Tyr222Asp) | |
| 22 | g.50626211A>G | CA219078 | ARSA | c.922T>C (p.Tyr308His) c.664T>C (p.Tyr222His) | ClinVar dbSNP |
| 22 | g.50626211A>T | CA412174625 | ARSA | c.922T>A (p.Tyr308Asn) c.664T>A (p.Tyr222Asn) | gnomAD v4 |
| 22 | g.50626212G>A | CA515248968 | ARSA | c.921C>T (p.Thr307=) c.663C>T (p.Thr221=) | |
| 22 | g.50626212G>C | CA515248969 | ARSA | c.921C>G (p.Thr307=) c.663C>G (p.Thr221=) | |
| 22 | g.50626212G>T | CA515248970 | ARSA | c.921C>A (p.Thr307=) c.663C>A (p.Thr221=) | |
| 22 | g.50626213G>A | CA412174630 | ARSA | c.920C>T (p.Thr307Ile) c.662C>T (p.Thr221Ile) | |
| 22 | g.50626213G>C | CA412174632 | ARSA | c.920C>G (p.Thr307Ser) c.662C>G (p.Thr221Ser) | |
| 22 | g.50626213G= | CA2410958919 | ARSA | c.920C= (p.Thr307=) c.662C= (p.Thr221=) | |
| 22 | g.50626213G>T | CA10324876 | ARSA | c.920C>A (p.Thr307Asn) c.662C>A (p.Thr221Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626214T>A | CA412174637 | ARSA | c.919A>T (p.Thr307Ser) c.661A>T (p.Thr221Ser) | |
| 22 | g.50626214T>C | CA412174638 | ARSA | c.919A>G (p.Thr307Ala) c.661A>G (p.Thr221Ala) | gnomAD v4 |
| 22 | g.50626214T>G | CA412174640 | ARSA | c.919A>C (p.Thr307Pro) c.661A>C (p.Thr221Pro) | |
| 22 | g.50626215C>A | CA515248971 | ARSA | c.918G>T (p.Thr306=) c.660G>T (p.Thr220=) | |
| 22 | g.50626215C= | CA2410958920 | ARSA | c.918G= (p.Thr306=) c.660G= (p.Thr220=) | |
| 22 | g.50626215C>G | CA10324878 | ARSA | c.918G>C (p.Thr306=) c.660G>C (p.Thr220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50626215C>T | CA10324877 | ARSA | c.918G>A (p.Thr306=) c.660G>A (p.Thr220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626216G>A | CA219074 | ARSA | c.917C>T (p.Thr306Met) c.659C>T (p.Thr220Met) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626216G>C | CA412174662 | ARSA | c.917C>G (p.Thr306Arg) c.659C>G (p.Thr220Arg) | |
| 22 | g.50626216G= | CA2410958921 | ARSA | c.917C= (p.Thr306=) c.659C= (p.Thr220=) | |
| 22 | g.50626216G>T | CA412174665 | ARSA | c.917C>A (p.Thr306Lys) c.659C>A (p.Thr220Lys) | |
| 22 | g.50626217T>A | CA412174668 | ARSA | c.916A>T (p.Thr306Ser) c.658A>T (p.Thr220Ser) | |
| 22 | g.50626217T>C | CA412174667 | ARSA | c.916A>G (p.Thr306Ala) c.658A>G (p.Thr220Ala) | ClinVar gnomAD v4 |
| 22 | g.50626217T>G | CA412174666 | ARSA | c.916A>C (p.Thr306Pro) c.658A>C (p.Thr220Pro) | |
| 22 | g.50626218T>A | CA515248972 | ARSA | c.915A>T (p.Gly305=) c.657A>T (p.Gly219=) | |
| 22 | g.50626218T>C | CA515248973 | ARSA | c.915A>G (p.Gly305=) c.657A>G (p.Gly219=) | |
| 22 | g.50626218T>G | CA515248974 | ARSA | c.915A>C (p.Gly305=) c.657A>C (p.Gly219=) | |
| 22 | g.50626219C>A | CA412174671 | ARSA | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) | |
| 22 | g.50626219C= | CA2410958922 | ARSA | c.914G= (p.Gly305=) c.656G= (p.Gly219=) | |
| 22 | g.50626219C>G | CA412174672 | ARSA | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) | |
| 22 | g.50626219C>T | CA325531345 | ARSA | c.914G>A (p.Gly305Glu) c.656G>A (p.Gly219Glu) | dbSNP gnomAD v4 |
| 22 | g.50626220C>A | CA412174674 | ARSA | c.913G>T (p.Gly305Ter) c.655G>T (p.Gly219Ter) | |
| 22 | g.50626220C>G | CA412174676 | ARSA | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) | |
| 22 | g.50626220C>T | CA412174678 | ARSA | c.913G>A (p.Gly305Arg) c.655G>A (p.Gly219Arg) | ClinVar dbSNP COSMIC |
| 22 | g.50626221C>A | CA412174684 | ARSA | c.912G>T (p.Lys304Asn) c.654G>T (p.Lys218Asn) | |
| 22 | g.50626221C= | CA2410958923 | ARSA | c.912G= (p.Lys304=) c.654G= (p.Lys218=) | |
| 22 | g.50626221C>G | CA219072 | ARSA | c.912G>C (p.Lys304Asn) c.654G>C (p.Lys218Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626221C>T | CA515248975 | ARSA | c.912G>A (p.Lys304=) c.654G>A (p.Lys218=) | ClinVar |
| 22 | g.50626222T>A | CA412174687 | ARSA | c.911A>T (p.Lys304Met) c.653A>T (p.Lys218Met) | |
| 22 | g.50626222T>C | CA412174688 | ARSA | c.911A>G (p.Lys304Arg) c.653A>G (p.Lys218Arg) | |
| 22 | g.50626222T>G | CA412174692 | ARSA | c.911A>C (p.Lys304Thr) c.653A>C (p.Lys218Thr) | |
| 22 | g.50626223T>A | CA412174694 | ARSA | c.910A>T (p.Lys304Ter) c.652A>T (p.Lys218Ter) | |
| 22 | g.50626223T>C | CA412174700 | ARSA | c.910A>G (p.Lys304Glu) c.652A>G (p.Lys218Glu) | |
| 22 | g.50626223T>G | CA412174704 | ARSA | c.910A>C (p.Lys304Gln) c.652A>C (p.Lys218Gln) | |
| 22 | g.50626224T>A | CA515248976 | ARSA | c.909A>T (p.Gly303=) c.651A>T (p.Gly217=) | |
| 22 | g.50626224T>C | CA515248977 | ARSA | c.909A>G (p.Gly303=) c.651A>G (p.Gly217=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50626224T>G | CA515248978 | ARSA | c.909A>C (p.Gly303=) c.651A>C (p.Gly217=) | |
| 22 | g.50626225C>A | CA412174706 | ARSA | c.908G>T (p.Gly303Val) c.650G>T (p.Gly217Val) | ClinVar |
| 22 | g.50626225C= | CA2410958924 | ARSA | c.908G= (p.Gly303=) c.650G= (p.Gly217=) | |
| 22 | g.50626225C>G | CA412174707 | ARSA | c.908G>C (p.Gly303Ala) c.650G>C (p.Gly217Ala) | gnomAD v4 |
| 22 | g.50626225C>T | CA412174705 | ARSA | c.908G>A (p.Gly303Glu) c.650G>A (p.Gly217Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |