| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.220878450C>T | CA10975629 | HLX-AS1 | c.843-2744C>T (n.843-2744C>T) n.292+1399G>A c.609G>A (p.Gln203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.220878450C>A | CA3044619173 | HLX-AS1 | c.843-2744C>A (n.843-2744C>A) n.292+1399G>T c.609G>T (p.Gln203His) | dbSNP |
| 1 | g.220878450C= | CA1139997038 | HLX-AS1 | c.843-2744C= (n.843-2744C=) n.292+1399G= c.609G= (p.Gln203=) | dbSNP |
| 1 | g.220878450C>G | CA3044619172 | HLX-AS1 | c.843-2744C>G (n.843-2744C>G) n.292+1399G>C c.609G>C (p.Gln203His) | dbSNP |