Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18869035G>T | CA118482 | CERS1,GDF1 | c.*950C>A (n.*950C>A) c.681C>A (p.Cys227Ter) c.*1542C>A (n.*1542C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18869035G>C | CA404862584 | CERS1,GDF1 | c.*950C>G (n.*950C>G) c.681C>G (p.Cys227Trp) c.*1542C>G (n.*1542C>G) | dbSNP |
19 | g.18869035G>A | CA506118673 | CERS1,GDF1 | c.*950C>T (n.*950C>T) c.681C>T (p.Cys227=) c.*1542C>T (n.*1542C>T) | dbSNP gnomAD v4 |