| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32084536C>T | CA119728 | TNXB | c.3322G>A (p.Val1108Met) c.4063G>A (p.Val1355Met) c.3583G>A (p.Val1195Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32084536C>A | CA363442224 | TNXB | c.3322G>T (p.Val1108Leu) c.4063G>T (p.Val1355Leu) c.3583G>T (p.Val1195Leu) | dbSNP gnomAD v3 gnomAD v4 |