| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370971T>A | CA387752688 | BRCA2 | c.8503T>A (p.Ser2835Thr) c.8134T>A (p.Ser2712Thr) c.970T>A (p.Ser324Thr) c.8511T>A (n.8511T>A) c.1068T>A c.1T>A (p.Ser1Thr) c.8407T>A (p.Ser2803Thr) | dbSNP |
| 13 | g.32370971T>C | CA025684 | BRCA2 | c.8503T>C (p.Ser2835Pro) c.8134T>C (p.Ser2712Pro) c.970T>C (p.Ser324Pro) c.8511T>C (n.8511T>C) c.1068T>C c.1T>C (p.Ser1Pro) c.8407T>C (p.Ser2803Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32370971T= | CA2082815394 | BRCA2 | c.8503T= (p.Ser2835=) c.8134T= (p.Ser2712=) c.970T= (p.Ser324=) c.8511T= (n.8511T=) c.1068T= c.1T= (p.Ser1=) c.8407T= (p.Ser2803=) | dbSNP |