| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38576780G>A | CA017114 | SCN5A | c.3389C>T (p.Thr1130Ile) c.3392C>T (p.Thr1131Ile) c.3230C>T (p.Thr1077Ile) c.3263C>T (p.Thr1088Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576780G>C | CA352138573 | SCN5A | c.3389C>G (p.Thr1130Ser) c.3392C>G (p.Thr1131Ser) c.3230C>G (p.Thr1077Ser) c.3263C>G (p.Thr1088Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38576780G>T | CA352138574 | SCN5A | c.3389C>A (p.Thr1130Asn) c.3392C>A (p.Thr1131Asn) c.3230C>A (p.Thr1077Asn) c.3263C>A (p.Thr1088Asn) | dbSNP gnomAD v2 gnomAD v4 |