| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338277G>A | CA387778829 | BRCA2 | c.3922G>A (p.Glu1308Lys) c.3553G>A (p.Glu1185Lys) n.3922G>A | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338277G>T | CA019195 | BRCA2 | c.3922G>T (p.Glu1308Ter) c.3553G>T (p.Glu1185Ter) n.3922G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32338277G>C | CA387778830 | BRCA2 | c.3922G>C (p.Glu1308Gln) c.3553G>C (p.Glu1185Gln) n.3922G>C | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |