| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32042125C>T | CA136895846 | TNXB | c.12356G>A (p.Arg4119His) c.13097G>A (p.Arg4366His) c.1643G>A (p.Arg548His) n.2183G>A c.5510G>A (p.Arg1837His) c.12350G>A (p.Arg4117His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32042125C= | CA1619400905 | TNXB | c.12356G= (p.Arg4119=) c.13097G= (p.Arg4366=) c.1643G= (p.Arg548=) n.2183G= c.5510G= (p.Arg1837=) c.12350G= (p.Arg4117=) | dbSNP |