| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379383C>A | CA387756120 | BRCA2 | c.8821C>A (p.Gln2941Lys) c.*188C>A (n.*188C>A) c.8452C>A (p.Gln2818Lys) c.*383C>A (n.*383C>A) c.1288C>A (p.Gln430Lys) n.948C>A c.8829C>A (n.8829C>A) c.1699C>A c.383C>A (n.383C>A) c.8725C>A (p.Gln2909Lys) c.8755-367C>A (n.8755-367C>A) | dbSNP |
| 13 | g.32379383C>T | CA025837 | BRCA2 | c.8821C>T (p.Gln2941Ter) c.*188C>T (n.*188C>T) c.8452C>T (p.Gln2818Ter) c.*383C>T (n.*383C>T) c.1288C>T (p.Gln430Ter) n.948C>T c.8829C>T (n.8829C>T) c.1699C>T c.383C>T (n.383C>T) c.8725C>T (p.Gln2909Ter) c.8755-367C>T (n.8755-367C>T) | ClinVar dbSNP |
| 13 | g.32379383C>G | CA387756122 | BRCA2 | c.8821C>G (p.Gln2941Glu) c.*188C>G (n.*188C>G) c.8452C>G (p.Gln2818Glu) c.*383C>G (n.*383C>G) c.1288C>G (p.Gln430Glu) n.948C>G c.8829C>G (n.8829C>G) c.1699C>G c.383C>G (n.383C>G) c.8725C>G (p.Gln2909Glu) c.8755-367C>G (n.8755-367C>G) | dbSNP |
| 13 | g.32379383C= | CA2082835766 | BRCA2 | c.8821C= (p.Gln2941=) c.*188C= (n.*188C=) c.8452C= (p.Gln2818=) c.*383C= (n.*383C=) c.1288C= (p.Gln430=) n.948C= c.8829C= (n.8829C=) c.1699C= c.383C= (n.383C=) c.8725C= (p.Gln2909=) c.8755-367C= (n.8755-367C=) | dbSNP dbSNP |