| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150948476C>A | CA369853704 | KCNH2 | n.3493G>T c.2660G>T (p.Arg887Leu) c.1640G>T (p.Arg547Leu) c.2360G>T (p.Arg787Leu) c.2510G>T (p.Arg837Leu) c.2483G>T (p.Arg828Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948476C>G | CA369853705 | KCNH2 | n.3493G>C c.2660G>C (p.Arg887Pro) c.1640G>C (p.Arg547Pro) c.2360G>C (p.Arg787Pro) c.2510G>C (p.Arg837Pro) c.2483G>C (p.Arg828Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948476C>T | CA007095 | KCNH2 | n.3493G>A c.2660G>A (p.Arg887His) c.1640G>A (p.Arg547His) c.2360G>A (p.Arg787His) c.2510G>A (p.Arg837His) c.2483G>A (p.Arg828His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948476C= | CA1752431375 | KCNH2 | n.3493G= c.2660G= (p.Arg887=) c.1640G= (p.Arg547=) c.2360G= (p.Arg787=) c.2510G= (p.Arg837=) c.2483G= (p.Arg828=) | dbSNP |