Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43047676G>ACA10590560BRCA1c.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
17g.43047676G>CCA003596BRCA1c.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
17g.43047676G>TCA10590562BRCA1c.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

Number of alleles fetched