| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227702251C>T | CA2149414 | SLC19A3 | c.68G>A (p.Gly23Asp) c.245G>A (p.Gly82Asp) c.-165-2687G>A (n.-165-2687G>A) c.104G>A (p.Gly35Asp) n.127G>A c.-141G>A (n.-141G>A) c.83G>A (p.Gly28Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227702251C>A | CA253226 | SLC19A3 | c.68G>T (p.Gly23Val) c.245G>T (p.Gly82Val) c.-165-2687G>T (n.-165-2687G>T) c.104G>T (p.Gly35Val) n.127G>T c.-141G>T (n.-141G>T) c.83G>T (p.Gly28Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |