| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958133dup | CA346385 | KCNH2 | n.1675dup c.842dup (p.Ala282ArgfsTer?) c.494dup (p.Ala166ArgfsTer?) n.1065dup c.542dup (p.Ala182ArgfsTer?) c.692dup (p.Ala232ArgfsTer?) c.665dup (p.Ala223ArgfsTer?) | ClinVar dbSNP |
| 7 | g.150958133C= | CA1752417912 | KCNH2 | n.1675G= c.842G= (p.Arg281=) c.494G= (p.Arg165=) n.1065G= c.542G= (p.Arg181=) c.692G= (p.Arg231=) c.665G= (p.Arg222=) | dbSNP dbSNP |