| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449382C>T | CA123130 | KCNE1 | c.253G>A (p.Asp85Asn) c.13+6004G>A (n.13+6004G>A) c.279+9272G>A (n.279+9272G>A) c.316G>A (p.Asp106Asn) | ClinVar dbSNP gnomAD v4 |
| 21 | g.34449382C= | CA2387113391 | KCNE1 | c.253G= (p.Asp85=) c.13+6004G= (n.13+6004G=) c.279+9272G= (n.279+9272G=) c.316G= (p.Asp106=) | dbSNP |