| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32082290T>A | CA3735169 | TNXB | c.3482A>T (p.His1161Leu) c.4223A>T (p.His1408Leu) c.3743A>T (p.His1248Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32082290T>G | CA363438986 | TNXB | c.3482A>C (p.His1161Pro) c.4223A>C (p.His1408Pro) c.3743A>C (p.His1248Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.32082290T>C | CA3735168 | TNXB | c.3482A>G (p.His1161Arg) c.4223A>G (p.His1408Arg) c.3743A>G (p.His1248Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |