| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.30313926T>A | CA376434789 | MTPAP | c.1432A>T (p.Asn478Tyr) n.3187A>T | dbSNP gnomAD v4 |
| 10 | g.30313926T>C | CA113782 | MTPAP | c.1432A>G (p.Asn478Asp) n.3187A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.30313926T= | CA1899314042 | MTPAP | c.1432A= (p.Asn478=) n.3187A= | dbSNP |