| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.210804083G>A | CA215047 | KCNH1 | c.1546C>T (p.Leu516Phe) c.1465C>T (p.Leu489Phe) c.879C>T c.394C>T (p.Leu132Phe) c.*51C>T (n.*51C>T) c.311-28539C>T (n.311-28539C>T) c.370C>T (p.Leu124Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.210804083G>T | CA344874419 | KCNH1 | c.1546C>A (p.Leu516Ile) c.1465C>A (p.Leu489Ile) c.879C>A c.394C>A (p.Leu132Ile) c.*51C>A (n.*51C>A) c.311-28539C>A (n.311-28539C>A) c.370C>A (p.Leu124Ile) | ClinVar dbSNP |
| 1 | g.210804083G= | CA1148224956 | KCNH1 | c.1546C= (p.Leu516=) c.1465C= (p.Leu489=) c.879C= c.394C= (p.Leu132=) c.*51C= (n.*51C=) c.311-28539C= (n.311-28539C=) c.370C= (p.Leu124=) | dbSNP |