| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.145639536C>T | CA347908 | MMAA | c.397C>T (p.Gln133Ter) n.885C>T c.-387C>T (n.-387C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.145639536C= | CA1501193020 | MMAA | c.397C= (p.Gln133=) n.885C= c.-387C= (n.-387C=) | dbSNP |
| 4 | g.145639536C>A | CA358353166 | MMAA | c.397C>A (p.Gln133Lys) n.885C>A c.-387C>A (n.-387C>A) | dbSNP gnomAD v4 |