Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150946905G>A | CA008172 | KCNH2 | n.4135C>T c.3302C>T (p.Pro1101Leu) c.2282C>T (p.Pro761Leu) c.3002C>T (p.Pro1001Leu) c.3152C>T (p.Pro1051Leu) c.3125C>T (p.Pro1042Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.150946905G>C | CA369851959 | KCNH2 | n.4135C>G c.3302C>G (p.Pro1101Arg) c.2282C>G (p.Pro761Arg) c.3002C>G (p.Pro1001Arg) c.3152C>G (p.Pro1051Arg) c.3125C>G (p.Pro1042Arg) | dbSNP gnomAD v3 gnomAD v4 |