| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32042353G>A | CA170653 | TNXB | c.12220C>T (p.Arg4074Cys) c.12961C>T (p.Arg4321Cys) c.1507C>T (p.Arg503Cys) n.2047C>T n.705C>T c.5374C>T (p.Arg1792Cys) c.12214C>T (p.Arg4072Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 6 | g.32042353G= | CA1619401122 | TNXB | c.12220C= (p.Arg4074=) c.12961C= (p.Arg4321=) c.1507C= (p.Arg503=) n.2047C= n.705C= c.5374C= (p.Arg1792=) c.12214C= (p.Arg4072=) | dbSNP |