| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150974719C>A | CA369865291 | KCNH2 | c.299G>T (p.Arg100Leu) c.122G>T (p.Arg41Leu) n.522G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.150974719C>T | CA007764 | KCNH2 | c.299G>A (p.Arg100Gln) c.122G>A (p.Arg41Gln) n.522G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.150974719C>G | CA369865293 | KCNH2 | c.299G>C (p.Arg100Pro) c.122G>C (p.Arg41Pro) n.522G>C | ClinVar dbSNP |
| 7 | g.150974719C= | CA1752461821 | KCNH2 | c.299G= (p.Arg100=) c.122G= (p.Arg41=) n.522G= | dbSNP |