| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34449462G>A | CA16043161 | KCNE1 | c.173C>T (p.Thr58Ile) c.13+5924C>T (n.13+5924C>T) c.279+9192C>T (n.279+9192C>T) c.236C>T (p.Thr79Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 21 | g.34449462G= | CA2387113439 | KCNE1 | c.173C= (p.Thr58=) c.13+5924C= (n.13+5924C=) c.279+9192C= (n.279+9192C=) c.236C= (p.Thr79=) | dbSNP |