| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61801348C>G | CA157735 | BRIP1 | c.538G>C (p.Ala180Pro) c.1045G>C (p.Ala349Pro) n.2786G>C c.919-2049G>C (n.919-2049G>C) c.623G>C (n.623G>C) c.562G>C (p.Ala188Pro) c.502G>C (p.Ala168Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61801348C>A | CA10580847 | BRIP1 | c.538G>T (p.Ala180Ser) c.1045G>T (p.Ala349Ser) n.2786G>T c.919-2049G>T (n.919-2049G>T) c.623G>T (n.623G>T) c.562G>T (p.Ala188Ser) c.502G>T (p.Ala168Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.61801348C>T | CA16607753 | BRIP1 | c.538G>A (p.Ala180Thr) c.1045G>A (p.Ala349Thr) n.2786G>A c.919-2049G>A (n.919-2049G>A) c.623G>A (n.623G>A) c.562G>A (p.Ala188Thr) c.502G>A (p.Ala168Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.61801348C= | CA2269179580 | BRIP1 | c.538G= (p.Ala180=) c.1045G= (p.Ala349=) n.2786G= c.919-2049G= (n.919-2049G=) c.623G= (n.623G=) c.562G= (p.Ala188=) c.502G= (p.Ala168=) | dbSNP |