| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44286074C>T | CA1640281 | SLC3A1 | c.808C>T (p.Arg270Ter) c.*819C>T (n.*819C>T) c.-27C>T (n.-27C>T) c.142C>T (p.Arg48Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.44286074C= | CA2494200052 | SLC3A1 | c.808C= (p.Arg270=) c.*819C= (n.*819C=) c.-27C= (n.-27C=) c.142C= (p.Arg48=) | dbSNP |