Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43082518C>TCA10593237BRCA1c.4243G>A (p.Glu1415Lys)
c.4117G>A (p.Glu1373Lys)
c.4237G>A (p.Glu1413Lys)
c.4165G>A (p.Glu1389Lys)
c.931G>A (p.Glu311Lys)
c.793G>A (p.Glu265Lys)
c.3355G>A (p.Glu1119Lys)
c.4120G>A (p.Glu1374Lys)
c.4102G>A (p.Glu1368Lys)
c.808G>A (p.Glu270Lys)
c.853G>A (p.Glu285Lys)
c.564G>A
c.817G>A (p.Glu273Lys)
c.*4026G>A (n.*4026G>A)
c.537G>A
c.934G>A (p.Glu312Lys)
c.556G>A (p.Glu186Lys)
c.559G>A (p.Glu187Lys)
c.5-18567G>A (n.5-18567G>A)
c.-43-7997G>A (n.-43-7997G>A)
c.-98-32328G>A (n.-98-32328G>A)
n.137G>A
n.4379G>A
n.4420G>A
ClinVar dbSNP gnomAD v4
17g.43082518C>GCA10593236BRCA1c.4243G>C (p.Glu1415Gln)
c.4117G>C (p.Glu1373Gln)
c.4237G>C (p.Glu1413Gln)
c.4165G>C (p.Glu1389Gln)
c.931G>C (p.Glu311Gln)
c.793G>C (p.Glu265Gln)
c.3355G>C (p.Glu1119Gln)
c.4120G>C (p.Glu1374Gln)
c.4102G>C (p.Glu1368Gln)
c.808G>C (p.Glu270Gln)
c.853G>C (p.Glu285Gln)
c.564G>C
c.817G>C (p.Glu273Gln)
c.*4026G>C (n.*4026G>C)
c.537G>C
c.934G>C (p.Glu312Gln)
c.556G>C (p.Glu186Gln)
c.559G>C (p.Glu187Gln)
c.5-18567G>C (n.5-18567G>C)
c.-43-7997G>C (n.-43-7997G>C)
c.-98-32328G>C (n.-98-32328G>C)
n.137G>C
n.4379G>C
n.4420G>C
ClinVar dbSNP
17g.43082518C>ACA10593235BRCA1c.4243G>T (p.Glu1415Ter)
c.4117G>T (p.Glu1373Ter)
c.4237G>T (p.Glu1413Ter)
c.4165G>T (p.Glu1389Ter)
c.931G>T (p.Glu311Ter)
c.793G>T (p.Glu265Ter)
c.3355G>T (p.Glu1119Ter)
c.4120G>T (p.Glu1374Ter)
c.4102G>T (p.Glu1368Ter)
c.808G>T (p.Glu270Ter)
c.853G>T (p.Glu285Ter)
c.564G>T
c.817G>T (p.Glu273Ter)
c.*4026G>T (n.*4026G>T)
c.537G>T
c.934G>T (p.Glu312Ter)
c.556G>T (p.Glu186Ter)
c.559G>T (p.Glu187Ter)
c.5-18567G>T (n.5-18567G>T)
c.-43-7997G>T (n.-43-7997G>T)
c.-98-32328G>T (n.-98-32328G>T)
n.137G>T
n.4379G>T
n.4420G>T
ClinVar dbSNP

Number of alleles fetched