| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.73610532del | CA16041078 | SLC17A5 | c.1127del (p.Ala376GlufsTer5) c.1076del (p.Ala359GlufsTer5) c.929del (p.Ala310GlufsTer5) c.1111+4783del (n.1111+4783del) c.896del (p.Ala299GlufsTer5) c.1148del (p.Ala383GlufsTer5) c.1040del (p.Ala347GlufsTer5) c.968del (p.Ala323GlufsTer5) c.1124del (p.Ala375GlufsTer5) c.809del (p.Ala270GlufsTer5) | ClinVar dbSNP |
| 6 | g.73610532G= | CA3135552288 | SLC17A5 | c.1127C= (p.Ala376=) c.1076C= (p.Ala359=) c.929C= (p.Ala310=) c.1111+4783C= (n.1111+4783C=) c.896C= (p.Ala299=) c.1148C= (p.Ala383=) c.1040C= (p.Ala347=) c.968C= (p.Ala323=) c.1124C= (p.Ala375=) c.809C= (p.Ala270=) | dbSNP |