Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32379335C>A | CA387755816 | BRCA2 | c.8773C>A (p.Gln2925Lys) c.*140C>A (n.*140C>A) c.8404C>A (p.Gln2802Lys) c.*335C>A (n.*335C>A) c.1240C>A (p.Gln414Lys) n.900C>A c.8781C>A (n.8781C>A) c.1651C>A c.335C>A (n.335C>A) c.8677C>A (p.Gln2893Lys) c.8755-415C>A (n.8755-415C>A) | dbSNP |
13 | g.32379335C>G | CA387755819 | BRCA2 | c.8773C>G (p.Gln2925Glu) c.*140C>G (n.*140C>G) c.8404C>G (p.Gln2802Glu) c.*335C>G (n.*335C>G) c.1240C>G (p.Gln414Glu) n.900C>G c.8781C>G (n.8781C>G) c.1651C>G c.335C>G (n.335C>G) c.8677C>G (p.Gln2893Glu) c.8755-415C>G (n.8755-415C>G) | dbSNP |
13 | g.32379335C>T | CA025822 | BRCA2 | c.8773C>T (p.Gln2925Ter) c.*140C>T (n.*140C>T) c.8404C>T (p.Gln2802Ter) c.*335C>T (n.*335C>T) c.1240C>T (p.Gln414Ter) n.900C>T c.8781C>T (n.8781C>T) c.1651C>T c.335C>T (n.335C>T) c.8677C>T (p.Gln2893Ter) c.8755-415C>T (n.8755-415C>T) | ClinVar dbSNP |
13 | g.32379335C= | CA2082835486 | BRCA2 | c.8773C= (p.Gln2925=) c.*140C= (n.*140C=) c.8404C= (p.Gln2802=) c.*335C= (n.*335C=) c.1240C= (p.Gln414=) n.900C= c.8781C= (n.8781C=) c.1651C= c.335C= (n.335C=) c.8677C= (p.Gln2893=) c.8755-415C= (n.8755-415C=) | dbSNP |