| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626022T>A | CA412172176 | ARSA | c.1021A>T (p.Thr341Ser) c.763A>T (p.Thr255Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50626022T>C | CA412172177 | ARSA | c.1021A>G (p.Thr341Ala) c.763A>G (p.Thr255Ala) | |
| 22 | g.50626022T>G | CA412172178 | ARSA | c.1021A>C (p.Thr341Pro) c.763A>C (p.Thr255Pro) | |
| 22 | g.50626022T= | CA2410958798 | ARSA | c.1021A= (p.Thr341=) c.763A= (p.Thr255=) | |
| 22 | g.50626023A= | CA2410958799 | ARSA | c.1020T= (p.Pro340=) c.762T= (p.Pro254=) | |
| 22 | g.50626023A>C | CA515248896 | ARSA | c.1020T>G (p.Pro340=) c.762T>G (p.Pro254=) | |
| 22 | g.50626023A>G | CA515248898 | ARSA | c.1020T>C (p.Pro340=) c.762T>C (p.Pro254=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50626023A>T | CA515248897 | ARSA | c.1020T>A (p.Pro340=) c.762T>A (p.Pro254=) | |
| 22 | g.50626024G>A | CA412172185 | ARSA | c.1019C>T (p.Pro340Leu) c.761C>T (p.Pro254Leu) | |
| 22 | g.50626024G>C | CA412172184 | ARSA | c.1019C>G (p.Pro340Arg) c.761C>G (p.Pro254Arg) | |
| 22 | g.50626024G>T | CA412172183 | ARSA | c.1019C>A (p.Pro340His) c.761C>A (p.Pro254His) | |
| 22 | g.50626025G>A | CA412172193 | ARSA | c.1018C>T (p.Pro340Ser) c.760C>T (p.Pro254Ser) | gnomAD v4 |
| 22 | g.50626025G>C | CA412172188 | ARSA | c.1018C>G (p.Pro340Ala) c.760C>G (p.Pro254Ala) | |
| 22 | g.50626025G>T | CA412172192 | ARSA | c.1018C>A (p.Pro340Thr) c.760C>A (p.Pro254Thr) | gnomAD v4 |
| 22 | g.50626026C>A | CA515248899 | ARSA | c.1017G>T (p.Leu339=) c.759G>T (p.Leu253=) | gnomAD v4 |
| 22 | g.50626026C= | CA2410958800 | ARSA | c.1017G= (p.Leu339=) c.759G= (p.Leu253=) | |
| 22 | g.50626026C>G | CA515248900 | ARSA | c.1017G>C (p.Leu339=) c.759G>C (p.Leu253=) | |
| 22 | g.50626026C>T | CA515248901 | ARSA | c.1017G>A (p.Leu339=) c.759G>A (p.Leu253=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626027A>C | CA412172194 | ARSA | c.1016T>G (p.Leu339Arg) c.758T>G (p.Leu253Arg) | |
| 22 | g.50626027A>G | CA412172198 | ARSA | c.1016T>C (p.Leu339Pro) c.758T>C (p.Leu253Pro) | |
| 22 | g.50626027A>T | CA412172201 | ARSA | c.1016T>A (p.Leu339Gln) c.758T>A (p.Leu253Gln) | |
| 22 | g.50626028G>A | CA515248902 | ARSA | c.1015C>T (p.Leu339=) c.757C>T (p.Leu253=) | ClinVar |
| 22 | g.50626028G>C | CA412172207 | ARSA | c.1015C>G (p.Leu339Val) c.757C>G (p.Leu253Val) | |
| 22 | g.50626028G>T | CA412172214 | ARSA | c.1015C>A (p.Leu339Met) c.757C>A (p.Leu253Met) | |
| 22 | g.50626029C>A | CA515248903 | ARSA | c.1014G>T (p.Leu338=) c.756G>T (p.Leu252=) | gnomAD v4 |
| 22 | g.50626029C>G | CA515248904 | ARSA | c.1014G>C (p.Leu338=) c.756G>C (p.Leu252=) | |
| 22 | g.50626029C>T | CA515248905 | ARSA | c.1014G>A (p.Leu338=) c.756G>A (p.Leu252=) | gnomAD v4 |
| 22 | g.50626030A>C | CA412172222 | ARSA | c.1013T>G (p.Leu338Arg) c.755T>G (p.Leu252Arg) | |
| 22 | g.50626030A>G | CA412172224 | ARSA | c.1013T>C (p.Leu338Pro) c.755T>C (p.Leu252Pro) | gnomAD v4 |
| 22 | g.50626030A>T | CA412172223 | ARSA | c.1013T>A (p.Leu338Gln) c.755T>A (p.Leu252Gln) | |
| 22 | g.50626031G>A | CA515248906 | ARSA | c.1012C>T (p.Leu338=) c.754C>T (p.Leu252=) | |
| 22 | g.50626031G>C | CA412172227 | ARSA | c.1012C>G (p.Leu338Val) c.754C>G (p.Leu252Val) | ClinVar dbSNP |
| 22 | g.50626031G>T | CA412172233 | ARSA | c.1012C>A (p.Leu338Met) c.754C>A (p.Leu252Met) | |
| 22 | g.50626032G>A | CA515248907 | ARSA | c.1011C>T (p.Asp337=) c.753C>T (p.Asp251=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626032G>C | CA412172238 | ARSA | c.1011C>G (p.Asp337Glu) c.753C>G (p.Asp251Glu) | |
| 22 | g.50626032G= | CA2410958801 | ARSA | c.1011C= (p.Asp337=) c.753C= (p.Asp251=) | |
| 22 | g.50626032G>T | CA412172255 | ARSA | c.1011C>A (p.Asp337Glu) c.753C>A (p.Asp251Glu) | gnomAD v4 |
| 22 | g.50626033T>A | CA115989 | ARSA | c.1010A>T (p.Asp337Val) c.752A>T (p.Asp251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626033T>C | CA412172275 | ARSA | c.1010A>G (p.Asp337Gly) c.752A>G (p.Asp251Gly) | gnomAD v4 |
| 22 | g.50626033T>G | CA412172288 | ARSA | c.1010A>C (p.Asp337Ala) c.752A>C (p.Asp251Ala) | |
| 22 | g.50626033T= | CA2410958802 | ARSA | c.1010A= (p.Asp337=) c.752A= (p.Asp251=) | |
| 22 | g.50626034C>A | CA412172292 | ARSA | c.1009G>T (p.Asp337Tyr) c.751G>T (p.Asp251Tyr) | |
| 22 | g.50626034C>G | CA412172293 | ARSA | c.1009G>C (p.Asp337His) c.751G>C (p.Asp251His) | |
| 22 | g.50626034C>T | CA412172296 | ARSA | c.1009G>A (p.Asp337Asn) c.751G>A (p.Asp251Asn) | |
| 22 | g.50626035C>A | CA515248908 | ARSA | c.1008G>T (p.Leu336=) c.750G>T (p.Leu250=) | |
| 22 | g.50626035C>G | CA515248909 | ARSA | c.1008G>C (p.Leu336=) c.750G>C (p.Leu250=) | |
| 22 | g.50626035C>T | CA515248910 | ARSA | c.1008G>A (p.Leu336=) c.750G>A (p.Leu250=) | |
| 22 | g.50626036A= | CA2410958803 | ARSA | c.1007T= (p.Leu336=) c.749T= (p.Leu250=) | |
| 22 | g.50626036A>C | CA412172299 | ARSA | c.1007T>G (p.Leu336Arg) c.749T>G (p.Leu250Arg) | dbSNP |
| 22 | g.50626036A>G | CA412172304 | ARSA | c.1007T>C (p.Leu336Pro) c.749T>C (p.Leu250Pro) | ClinVar dbSNP gnomAD v4 |