| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.113878447A>C | CA369099563 | PPP1R3A | c.2645T>G (p.Leu882Arg) c.2042T>G (p.Leu681Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.113878447A>G | CA369099564 | PPP1R3A | c.2645T>C (p.Leu882Pro) c.2042T>C (p.Leu681Pro) | dbSNP |
| 7 | g.113878447A>T | CA4445035 | PPP1R3A | c.2645T>A (p.Leu882His) c.2042T>A (p.Leu681His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |