| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150945375G>A | CA008345 | KCNH2 | n.4303C>T c.3470C>T (p.Pro1157Leu) c.2450C>T (p.Pro817Leu) c.3170C>T (p.Pro1057Leu) c.3320C>T (p.Pro1107Leu) c.3293C>T (p.Pro1098Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150945375G= | CA1752425541 | KCNH2 | n.4303C= c.3470C= (p.Pro1157=) c.2450C= (p.Pro817=) c.3170C= (p.Pro1057=) c.3320C= (p.Pro1107=) c.3293C= (p.Pro1098=) | dbSNP |