| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50185866G>A | CA261266 | COL1A1 | c.4160C>T (p.Ala1387Val) n.1125C>T c.3890C>T (p.Ala1297Val) c.3242C>T (p.Ala1081Val) c.3962C>T (p.Ala1321Val) | ClinVar dbSNP |
| 17 | g.50185866G= | CA2263913898 | COL1A1 | c.4160C= (p.Ala1387=) n.1125C= c.3890C= (p.Ala1297=) c.3242C= (p.Ala1081=) c.3962C= (p.Ala1321=) | dbSNP |