| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32042955T>G | CA3732914 | TNXB | c.11921A>C (p.Asn3974Thr) c.12662A>C (p.Asn4221Thr) c.1208A>C (p.Asn403Thr) n.1748A>C n.287A>C c.5075A>C (p.Asn1692Thr) c.11915A>C (p.Asn3972Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32042955T= | CA1619401604 | TNXB | c.11921A= (p.Asn3974=) c.12662A= (p.Asn4221=) c.1208A= (p.Asn403=) n.1748A= n.287A= c.5075A= (p.Asn1692=) c.11915A= (p.Asn3972=) | dbSNP |