| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61784403G>C | CA400481436 | BRIP1 | c.988C>G (p.Gln330Glu) c.1495C>G (p.Gln499Glu) n.235C>G c.*921C>G (n.*921C>G) n.3236C>G c.1273C>G (p.Gln425Glu) c.99C>G c.1012C>G (p.Gln338Glu) c.952C>G (p.Gln318Glu) | ClinVar dbSNP |
| 17 | g.61784403G>A | CA16615495 | BRIP1 | c.988C>T (p.Gln330Ter) c.1495C>T (p.Gln499Ter) n.235C>T c.*921C>T (n.*921C>T) n.3236C>T c.1273C>T (p.Gln425Ter) c.99C>T c.1012C>T (p.Gln338Ter) c.952C>T (p.Gln318Ter) | ClinVar dbSNP |
| 17 | g.61784403G>T | CA400481438 | BRIP1 | c.988C>A (p.Gln330Lys) c.1495C>A (p.Gln499Lys) n.235C>A c.*921C>A (n.*921C>A) n.3236C>A c.1273C>A (p.Gln425Lys) c.99C>A c.1012C>A (p.Gln338Lys) c.952C>A (p.Gln318Lys) | ClinVar dbSNP |
| 17 | g.61784403G= | CA2269172082 | BRIP1 | c.988C= (p.Gln330=) c.1495C= (p.Gln499=) n.235C= c.*921C= (n.*921C=) n.3236C= c.1273C= (p.Gln425=) c.99C= c.1012C= (p.Gln338=) c.952C= (p.Gln318=) | dbSNP |