| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32048638G>A | CA170656 | TNXB | c.9770C>T (p.Thr3257Ile) c.10511C>T (p.Thr3504Ile) c.2924C>T (p.Thr975Ile) c.9764C>T (p.Thr3255Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32048638G= | CA1619405819 | TNXB | c.9770C= (p.Thr3257=) c.10511C= (p.Thr3504=) c.2924C= (p.Thr975=) c.9764C= (p.Thr3255=) | dbSNP |