Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.115700759G>A | CA10607596 | CASQ2 | c.*1054C>T (n.*1054C>T) c.*482C>T (n.*482C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.115700759G= | CA1140130111 | CASQ2 | c.*1054C= (n.*1054C=) c.*482C= (n.*482C=) | dbSNP |