| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150947386G>T | CA458644851 | KCNH2 | n.3927C>A c.3094C>A (p.Arg1032=) c.2074C>A (p.Arg692=) c.2794C>A (p.Arg932=) c.2944C>A (p.Arg982=) c.2917C>A (p.Arg973=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947386G>A | CA007892 | KCNH2 | n.3927C>T c.3094C>T (p.Arg1032Trp) c.2074C>T (p.Arg692Trp) c.2794C>T (p.Arg932Trp) c.2944C>T (p.Arg982Trp) c.2917C>T (p.Arg973Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947386G>C | CA369852668 | KCNH2 | n.3927C>G c.3094C>G (p.Arg1032Gly) c.2074C>G (p.Arg692Gly) c.2794C>G (p.Arg932Gly) c.2944C>G (p.Arg982Gly) c.2917C>G (p.Arg973Gly) | ClinVar dbSNP gnomAD v4 |