| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.101476362A>G | CA6244286 | TRPC6 | c.1683T>C (p.Asn561=) c.1335T>C (p.Asn445=) c.1518T>C (p.Asn506=) c.1511-2589T>C (n.1511-2589T>C) n.2039T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.101476362A= | CA1995833820 | TRPC6 | c.1683T= (p.Asn561=) c.1335T= (p.Asn445=) c.1518T= (p.Asn506=) c.1511-2589T= (n.1511-2589T=) n.2039T= | dbSNP |
| 11 | g.101476362A>T | CA382440708 | TRPC6 | c.1683T>A (p.Asn561Lys) c.1335T>A (p.Asn445Lys) c.1518T>A (p.Asn506Lys) c.1511-2589T>A (n.1511-2589T>A) n.2039T>A | dbSNP gnomAD v4 |