| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61808488C>A | CA400484678 | BRIP1 | c.390G>T (p.Met130Ile) c.897G>T (p.Met299Ile) n.2638G>T c.414G>T (p.Met138Ile) c.354G>T (p.Met118Ile) | dbSNP |
| 17 | g.61808488C>G | CA400484679 | BRIP1 | c.390G>C (p.Met130Ile) c.897G>C (p.Met299Ile) n.2638G>C c.414G>C (p.Met138Ile) c.354G>C (p.Met118Ile) | dbSNP gnomAD v4 |
| 17 | g.61808488C>T | CA117041 | BRIP1 | c.390G>A (p.Met130Ile) c.897G>A (p.Met299Ile) n.2638G>A c.414G>A (p.Met138Ile) c.354G>A (p.Met118Ile) | ClinVar dbSNP |
| 17 | g.61808488C= | CA2269182426 | BRIP1 | c.390G= (p.Met130=) c.897G= (p.Met299=) n.2638G= c.414G= (p.Met138=) c.354G= (p.Met118=) | dbSNP |