| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057077C>G | CA003392 | BRCA1 | c.5249G>C (p.Arg1750Pro) c.5252G>C (p.Arg1751Pro) c.5126G>C (p.Arg1709Pro) c.5246G>C (p.Arg1749Pro) c.5174G>C (p.Arg1725Pro) c.1940G>C (p.Arg647Pro) c.1802G>C (p.Arg601Pro) c.4364G>C (p.Arg1455Pro) c.5129G>C (p.Arg1710Pro) c.5318G>C (p.Arg1773Pro) c.5111G>C (p.Arg1704Pro) c.1814G>C (p.Arg605Pro) c.5315G>C (p.Arg1772Pro) c.1639G>C c.1826G>C (p.Arg609Pro) c.*5035G>C (n.*5035G>C) c.182G>C (p.Arg61Pro) c.725G>C (p.Arg242Pro) c.-98-6887G>C (n.-98-6887G>C) n.5388G>C n.5429G>C | ClinVar dbSNP |
| 17 | g.43057077C>T | CA003390 | BRCA1 | c.5249G>A (p.Arg1750Gln) c.5252G>A (p.Arg1751Gln) c.5126G>A (p.Arg1709Gln) c.5246G>A (p.Arg1749Gln) c.5174G>A (p.Arg1725Gln) c.1940G>A (p.Arg647Gln) c.1802G>A (p.Arg601Gln) c.4364G>A (p.Arg1455Gln) c.5129G>A (p.Arg1710Gln) c.5318G>A (p.Arg1773Gln) c.5111G>A (p.Arg1704Gln) c.1814G>A (p.Arg605Gln) c.5315G>A (p.Arg1772Gln) c.1639G>A c.1826G>A (p.Arg609Gln) c.*5035G>A (n.*5035G>A) c.182G>A (p.Arg61Gln) c.725G>A (p.Arg242Gln) c.-98-6887G>A (n.-98-6887G>A) n.5388G>A n.5429G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43057077C>A | CA10591044 | BRCA1 | c.5249G>T (p.Arg1750Leu) c.5252G>T (p.Arg1751Leu) c.5126G>T (p.Arg1709Leu) c.5246G>T (p.Arg1749Leu) c.5174G>T (p.Arg1725Leu) c.1940G>T (p.Arg647Leu) c.1802G>T (p.Arg601Leu) c.4364G>T (p.Arg1455Leu) c.5129G>T (p.Arg1710Leu) c.5318G>T (p.Arg1773Leu) c.5111G>T (p.Arg1704Leu) c.1814G>T (p.Arg605Leu) c.5315G>T (p.Arg1772Leu) c.1639G>T c.1826G>T (p.Arg609Leu) c.*5035G>T (n.*5035G>T) c.182G>T (p.Arg61Leu) c.725G>T (p.Arg242Leu) c.-98-6887G>T (n.-98-6887G>T) n.5388G>T n.5429G>T | ClinVar dbSNP |