| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101761702T>A | CA386296380 | GNPTAB | c.2777A>T (p.Gln926Leu) c.2696A>T (p.Gln899Leu) c.2561A>T (p.Gln854Leu) c.1550A>T (p.Gln517Leu) | dbSNP |
| 12 | g.101761702T>G | CA343382 | GNPTAB | c.2777A>C (p.Gln926Pro) c.2696A>C (p.Gln899Pro) c.2561A>C (p.Gln854Pro) c.1550A>C (p.Gln517Pro) | ClinVar dbSNP |