| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.102348705C>T | CA7357113 | CINP | c.491G>A (p.Arg164His) c.536G>A (p.Arg179His) c.*4G>A (n.*4G>A) c.492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.102348705C>G | CA391021978 | CINP | c.491G>C (p.Arg164Pro) c.536G>C (p.Arg179Pro) c.*4G>C (n.*4G>C) c.492G>C | dbSNP |