| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.201209388C>T | CA119056 | CASP10 | c.1040C>T (p.Ala347Val) c.1112C>T (p.Ala371Val) c.*698C>T (n.*698C>T) c.*327C>T (n.*327C>T) c.721+5622C>T (n.721+5622C>T) c.1241C>T (p.Ala414Val) n.1149C>T c.1238C>T (p.Ala413Val) c.491C>T (p.Ala164Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.201209388C= | CA1320967350 | CASP10 | c.1040C= (p.Ala347=) c.1112C= (p.Ala371=) c.*698C= (n.*698C=) c.*327C= (n.*327C=) c.721+5622C= (n.721+5622C=) c.1241C= (p.Ala414=) n.1149C= c.1238C= (p.Ala413=) c.491C= (p.Ala164=) | dbSNP dbSNP |