| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770477T>G | CA343333 | GNPTAB | c.1042A>C (p.Ile348Leu) c.961A>C (p.Ile321Leu) c.826A>C (p.Ile276Leu) c.-186A>C (n.-186A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770477T>C | CA386303138 | GNPTAB | c.1042A>G (p.Ile348Val) c.961A>G (p.Ile321Val) c.826A>G (p.Ile276Val) c.-186A>G (n.-186A>G) | dbSNP gnomAD v4 |