| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32339003G>T | CA020587 | BRCA2 | c.4648G>T (p.Glu1550Ter) c.4279G>T (p.Glu1427Ter) n.4648G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32339003G>C | CA6940803 | BRCA2 | c.4648G>C (p.Glu1550Gln) c.4279G>C (p.Glu1427Gln) n.4648G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32339003G>A | CA387782180 | BRCA2 | c.4648G>A (p.Glu1550Lys) c.4279G>A (p.Glu1427Lys) n.4648G>A | dbSNP |