Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974807C>A | CA369865595 | KCNH2 | c.211G>T (p.Gly71Trp) c.34G>T (p.Gly12Trp) n.434G>T | ClinVar dbSNP |
7 | g.150974807C>T | CA369865597 | KCNH2 | c.211G>A (p.Gly71Arg) c.34G>A (p.Gly12Arg) n.434G>A | ClinVar dbSNP gnomAD v2 |
7 | g.150974807C>G | CA006261 | KCNH2 | c.211G>C (p.Gly71Arg) c.34G>C (p.Gly12Arg) n.434G>C | ClinVar dbSNP |