Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150974846C>T | CA005294 | KCNH2 | c.172G>A (p.Glu58Lys) c.-6G>A (n.-6G>A) n.395G>A | ClinVar dbSNP |
7 | g.150974846C>A | CA369865747 | KCNH2 | c.172G>T (p.Glu58Ter) c.-6G>T (n.-6G>T) n.395G>T | ClinVar dbSNP |
7 | g.150974846C= | CA1752440975 | KCNH2 | c.172G= (p.Glu58=) c.-6G= (n.-6G=) n.395G= | dbSNP |
7 | g.150974846C>G | CA369865745 | KCNH2 | c.172G>C (p.Glu58Gln) c.-6G>C (n.-6G>C) n.395G>C | ClinVar dbSNP |