| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50626015G>A | CA10324839 | ARSA | c.1028C>T (p.Ala343Val) c.770C>T (p.Ala257Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50626015G>C | CA412172097 | ARSA | c.1028C>G (p.Ala343Gly) c.770C>G (p.Ala257Gly) | |
| 22 | g.50626015G= | CA2410958794 | ARSA | c.1028C= (p.Ala343=) c.770C= (p.Ala257=) | |
| 22 | g.50626015G>T | CA412172093 | ARSA | c.1028C>A (p.Ala343Glu) c.770C>A (p.Ala257Glu) | gnomAD v4 |
| 22 | g.50626016C>A | CA412172101 | ARSA | c.1027G>T (p.Ala343Ser) c.769G>T (p.Ala257Ser) | |
| 22 | g.50626016C= | CA2410958795 | ARSA | c.1027G= (p.Ala343=) c.769G= (p.Ala257=) | |
| 22 | g.50626016C>G | CA412172106 | ARSA | c.1027G>C (p.Ala343Pro) c.769G>C (p.Ala257Pro) | |
| 22 | g.50626016C>T | CA412172108 | ARSA | c.1027G>A (p.Ala343Thr) c.769G>A (p.Ala257Thr) | dbSNP gnomAD v4 |
| 22 | g.50626017C>A | CA515248889 | ARSA | c.1026G>T (p.Leu342=) c.768G>T (p.Leu256=) | gnomAD v4 |
| 22 | g.50626017C= | CA2410958796 | ARSA | c.1026G= (p.Leu342=) c.768G= (p.Leu256=) | |
| 22 | g.50626017C>G | CA515248890 | ARSA | c.1026G>C (p.Leu342=) c.768G>C (p.Leu256=) | |
| 22 | g.50626017C>T | CA515248891 | ARSA | c.1026G>A (p.Leu342=) c.768G>A (p.Leu256=) | dbSNP gnomAD v2 |
| 22 | g.50626018A>C | CA412172113 | ARSA | c.1025T>G (p.Leu342Arg) c.767T>G (p.Leu256Arg) | |
| 22 | g.50626018A>G | CA412172126 | ARSA | c.1025T>C (p.Leu342Pro) c.767T>C (p.Leu256Pro) | |
| 22 | g.50626018A>T | CA412172131 | ARSA | c.1025T>A (p.Leu342Gln) c.767T>A (p.Leu256Gln) | |
| 22 | g.50626019G>A | CA515248892 | ARSA | c.1024C>T (p.Leu342=) c.766C>T (p.Leu256=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G>C | CA412172136 | ARSA | c.1024C>G (p.Leu342Val) c.766C>G (p.Leu256Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50626019G= | CA2410958797 | ARSA | c.1024C= (p.Leu342=) c.766C= (p.Leu256=) | |
| 22 | g.50626019G>T | CA412172142 | ARSA | c.1024C>A (p.Leu342Met) c.766C>A (p.Leu256Met) | |
| 22 | g.50626020G>A | CA515248893 | ARSA | c.1023C>T (p.Thr341=) c.765C>T (p.Thr255=) | gnomAD v4 |
| 22 | g.50626020G>C | CA515248894 | ARSA | c.1023C>G (p.Thr341=) c.765C>G (p.Thr255=) | |
| 22 | g.50626020G>T | CA515248895 | ARSA | c.1023C>A (p.Thr341=) c.765C>A (p.Thr255=) | |
| 22 | g.50626021G>A | CA412172152 | ARSA | c.1022C>T (p.Thr341Ile) c.764C>T (p.Thr255Ile) | |
| 22 | g.50626021G>C | CA412172156 | ARSA | c.1022C>G (p.Thr341Ser) c.764C>G (p.Thr255Ser) | |
| 22 | g.50626021G>T | CA412172160 | ARSA | c.1022C>A (p.Thr341Asn) c.764C>A (p.Thr255Asn) | |
| 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 |