| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370555C>G | CA387752645 | BRCA2 | c.8485C>G (p.Gln2829Glu) c.8116C>G (p.Gln2706Glu) c.952C>G (p.Gln318Glu) c.8493C>G (n.8493C>G) c.1050C>G c.8389C>G (p.Gln2797Glu) | dbSNP |
| 13 | g.32370555C>T | CA025665 | BRCA2 | c.8485C>T (p.Gln2829Ter) c.8116C>T (p.Gln2706Ter) c.952C>T (p.Gln318Ter) c.8493C>T (n.8493C>T) c.1050C>T c.8389C>T (p.Gln2797Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32370555C>A | CA387752644 | BRCA2 | c.8485C>A (p.Gln2829Lys) c.8116C>A (p.Gln2706Lys) c.952C>A (p.Gln318Lys) c.8493C>A (n.8493C>A) c.1050C>A c.8389C>A (p.Gln2797Lys) | ClinVar dbSNP |
| 13 | g.32370555C= | CA2082814471 | BRCA2 | c.8485C= (p.Gln2829=) c.8116C= (p.Gln2706=) c.952C= (p.Gln318=) c.8493C= (n.8493C=) c.1050C= c.8389C= (p.Gln2797=) | dbSNP |