Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43047676G>A | CA10590560 | BRCA1 | c.5431C>T (p.Pro1811Ser) c.5434C>T (p.Pro1812Ser) c.5308C>T (p.Pro1770Ser) c.5428C>T (p.Pro1810Ser) c.5356C>T (p.Pro1786Ser) c.2122C>T (p.Pro708Ser) c.1984C>T (p.Pro662Ser) c.4546C>T (p.Pro1516Ser) c.5311C>T (p.Pro1771Ser) c.5500C>T (p.Pro1834Ser) c.5293C>T (p.Pro1765Ser) c.1996C>T (p.Pro666Ser) n.1317C>T n.798C>T c.5497C>T (p.Pro1833Ser) c.1821C>T c.2008C>T (p.Pro670Ser) c.*5217C>T (n.*5217C>T) c.2048C>T (p.Ala683Val) c.364C>T (p.Pro122Ser) c.907C>T (p.Pro303Ser) c.133C>T (p.Pro45Ser) n.5570C>T n.5611C>T | ClinVar dbSNP |
17 | g.43047676G>C | CA003596 | BRCA1 | c.5431C>G (p.Pro1811Ala) c.5434C>G (p.Pro1812Ala) c.5308C>G (p.Pro1770Ala) c.5428C>G (p.Pro1810Ala) c.5356C>G (p.Pro1786Ala) c.2122C>G (p.Pro708Ala) c.1984C>G (p.Pro662Ala) c.4546C>G (p.Pro1516Ala) c.5311C>G (p.Pro1771Ala) c.5500C>G (p.Pro1834Ala) c.5293C>G (p.Pro1765Ala) c.1996C>G (p.Pro666Ala) n.1317C>G n.798C>G c.5497C>G (p.Pro1833Ala) c.1821C>G c.2008C>G (p.Pro670Ala) c.*5217C>G (n.*5217C>G) c.2048C>G (p.Ala683Gly) c.364C>G (p.Pro122Ala) c.907C>G (p.Pro303Ala) c.133C>G (p.Pro45Ala) n.5570C>G n.5611C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43047676G>T | CA10590562 | BRCA1 | c.5431C>A (p.Pro1811Thr) c.5434C>A (p.Pro1812Thr) c.5308C>A (p.Pro1770Thr) c.5428C>A (p.Pro1810Thr) c.5356C>A (p.Pro1786Thr) c.2122C>A (p.Pro708Thr) c.1984C>A (p.Pro662Thr) c.4546C>A (p.Pro1516Thr) c.5311C>A (p.Pro1771Thr) c.5500C>A (p.Pro1834Thr) c.5293C>A (p.Pro1765Thr) c.1996C>A (p.Pro666Thr) n.1317C>A n.798C>A c.5497C>A (p.Pro1833Thr) c.1821C>A c.2008C>A (p.Pro670Thr) c.*5217C>A (n.*5217C>A) c.2048C>A (p.Ala683Asp) c.364C>A (p.Pro122Thr) c.907C>A (p.Pro303Thr) c.133C>A (p.Pro45Thr) n.5570C>A n.5611C>A | ClinVar dbSNP |