| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30737343C>A | CA494910608 | SRCAP | c.7303C>A (p.Arg2435=) c.1583C>A c.6772C>A (p.Arg2258=) c.6526C>A (p.Arg2176=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30737343C>T | CA342763 | SRCAP | c.7303C>T (p.Arg2435Ter) c.1583C>T c.6772C>T (p.Arg2258Ter) c.6526C>T (p.Arg2176Ter) | ClinVar dbSNP |
| 16 | g.30737343C= | CA2216733535 | SRCAP | c.7303C= (p.Arg2435=) c.1583C= c.6772C= (p.Arg2258=) c.6526C= (p.Arg2176=) | dbSNP |
| 16 | g.30737343C>G | CA395632533 | SRCAP | c.7303C>G (p.Arg2435Gly) c.1583C>G c.6772C>G (p.Arg2258Gly) c.6526C>G (p.Arg2176Gly) | ClinVar dbSNP gnomAD v4 |