| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.84935498G>A | CA7710852 | SLC28A1 | c.1561G>A (p.Asp521Asn) c.1084-7947G>A (n.1084-7947G>A) c.1534G>A (p.Asp512Asn) c.1483G>A (p.Asp495Asn) c.1327G>A (p.Asp443Asn) n.1636G>A c.520G>A (p.Asp174Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.84935498G>T | CA393376113 | SLC28A1 | c.1561G>T (p.Asp521Tyr) c.1084-7947G>T (n.1084-7947G>T) c.1534G>T (p.Asp512Tyr) c.1483G>T (p.Asp495Tyr) c.1327G>T (p.Asp443Tyr) n.1636G>T c.520G>T (p.Asp174Tyr) | dbSNP gnomAD v2 |