Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43045658_43051137delCA915940399BRCA1c.5278-20_*20del
c.5341-20_*20del
n.1665-20_1999del
c.1852-20_*20del
c.1966-20_*126del
c.5137-20_*20del
c.208-20_*20del
c.751-20_*20del
c.-98-947_*20del
c.1966-20_*20del
n.5414-20_5748del
n.5455-20_5789del
17g.43047300_43054953dupCA16043343BRCA1c.5277+2100_5467+344dup
c.5340+2100_5530+344dup
n.1664+2100_1854+344dup
c.1851+2100_2041+344dup
c.*5060+2100_*5250+344dup
c.1965+2100_2081+344dup
c.1965+2100_2155+344dup
c.5136+2100_5326+344dup
c.207+2100_397+344dup
c.750+2100_940+344dup
c.-98-4762_166+344dup
n.5413+2100_5603+344dup
n.5454+2100_5644+344dup
17g.43047595C=CA2260761926BRCA1c.5467+48G= (p.=)
c.5530+48G= (p.=)
n.1854+48G=
c.2041+48G= (p.=)
c.*5250+48G= (p.=)
c.2081+48G= (p.=)
c.2155+48G= (p.=)
c.5326+48G= (p.=)
c.397+48G= (p.=)
c.940+48G= (p.=)
c.166+48G= (p.=)
n.5603+48G=
n.5644+48G=
17g.43047595C>GCA626076254BRCA1c.5467+48G>C (p.=)
c.5530+48G>C (p.=)
n.1854+48G>C
c.2041+48G>C (p.=)
c.*5250+48G>C (p.=)
c.2081+48G>C (p.=)
c.2155+48G>C (p.=)
c.5326+48G>C (p.=)
c.397+48G>C (p.=)
c.940+48G>C (p.=)
c.166+48G>C (p.=)
n.5603+48G>C
n.5644+48G>C
gnomAD
17g.43047596C=CA2260761927BRCA1c.5467+47G= (p.=)
c.5530+47G= (p.=)
n.1854+47G=
c.2041+47G= (p.=)
c.*5250+47G= (p.=)
c.2081+47G= (p.=)
c.2155+47G= (p.=)
c.5326+47G= (p.=)
c.397+47G= (p.=)
c.940+47G= (p.=)
c.166+47G= (p.=)
n.5603+47G=
n.5644+47G=
17g.43047596C>TCA2260761928BRCA1c.5467+47G>A (p.=)
c.5530+47G>A (p.=)
n.1854+47G>A
c.2041+47G>A (p.=)
c.*5250+47G>A (p.=)
c.2081+47G>A (p.=)
c.2155+47G>A (p.=)
c.5326+47G>A (p.=)
c.397+47G>A (p.=)
c.940+47G>A (p.=)
c.166+47G>A (p.=)
n.5603+47G>A
n.5644+47G>A
17g.43047599T>CCA055092BRCA1c.5467+44A>G (p.=)
c.5530+44A>G (p.=)
n.1854+44A>G
c.2041+44A>G (p.=)
c.*5250+44A>G (p.=)
c.2081+44A>G (p.=)
c.2155+44A>G (p.=)
c.5326+44A>G (p.=)
c.397+44A>G (p.=)
c.940+44A>G (p.=)
c.166+44A>G (p.=)
n.5603+44A>G
n.5644+44A>G
dbSNP ExAC gnomAD
17g.43047599T=CA2260761929BRCA1c.5467+44A= (p.=)
c.5530+44A= (p.=)
n.1854+44A=
c.2041+44A= (p.=)
c.*5250+44A= (p.=)
c.2081+44A= (p.=)
c.2155+44A= (p.=)
c.5326+44A= (p.=)
c.397+44A= (p.=)
c.940+44A= (p.=)
c.166+44A= (p.=)
n.5603+44A=
n.5644+44A=
17g.43047601C=CA2260761930BRCA1c.5467+42G= (p.=)
c.5530+42G= (p.=)
n.1854+42G=
c.2041+42G= (p.=)
c.*5250+42G= (p.=)
c.2081+42G= (p.=)
c.2155+42G= (p.=)
c.5326+42G= (p.=)
c.397+42G= (p.=)
c.940+42G= (p.=)
c.166+42G= (p.=)
n.5603+42G=
n.5644+42G=
17g.43047601C>GCA2260761931BRCA1c.5467+42G>C (p.=)
c.5530+42G>C (p.=)
n.1854+42G>C
c.2041+42G>C (p.=)
c.*5250+42G>C (p.=)
c.2081+42G>C (p.=)
c.2155+42G>C (p.=)
c.5326+42G>C (p.=)
c.397+42G>C (p.=)
c.940+42G>C (p.=)
c.166+42G>C (p.=)
n.5603+42G>C
n.5644+42G>C
17g.43047604A=CA2260761932BRCA1c.5467+39T= (p.=)
c.5530+39T= (p.=)
n.1854+39T=
c.2041+39T= (p.=)
c.*5250+39T= (p.=)
c.2081+39T= (p.=)
c.2155+39T= (p.=)
c.5326+39T= (p.=)
c.397+39T= (p.=)
c.940+39T= (p.=)
c.166+39T= (p.=)
n.5603+39T=
n.5644+39T=
17g.43047604A>CCA2260761933BRCA1c.5467+39T>G (p.=)
c.5530+39T>G (p.=)
n.1854+39T>G
c.2041+39T>G (p.=)
c.*5250+39T>G (p.=)
c.2081+39T>G (p.=)
c.2155+39T>G (p.=)
c.5326+39T>G (p.=)
c.397+39T>G (p.=)
c.940+39T>G (p.=)
c.166+39T>G (p.=)
n.5603+39T>G
n.5644+39T>G
17g.43047606G>ACA626076256BRCA1c.5467+37C>T (p.=)
c.5530+37C>T (p.=)
n.1854+37C>T
c.2041+37C>T (p.=)
c.*5250+37C>T (p.=)
c.2081+37C>T (p.=)
c.2155+37C>T (p.=)
c.5326+37C>T (p.=)
c.397+37C>T (p.=)
c.940+37C>T (p.=)
c.166+37C>T (p.=)
n.5603+37C>T
n.5644+37C>T
gnomAD
17g.43047606G=CA2260761934BRCA1c.5467+37C= (p.=)
c.5530+37C= (p.=)
n.1854+37C=
c.2041+37C= (p.=)
c.*5250+37C= (p.=)
c.2081+37C= (p.=)
c.2155+37C= (p.=)
c.5326+37C= (p.=)
c.397+37C= (p.=)
c.940+37C= (p.=)
c.166+37C= (p.=)
n.5603+37C=
n.5644+37C=
17g.43047609C=CA2260761935BRCA1c.5467+34G= (p.=)
c.5530+34G= (p.=)
n.1854+34G=
c.2041+34G= (p.=)
c.*5250+34G= (p.=)
c.2081+34G= (p.=)
c.2155+34G= (p.=)
c.5326+34G= (p.=)
c.397+34G= (p.=)
c.940+34G= (p.=)
c.166+34G= (p.=)
n.5603+34G=
n.5644+34G=
17g.43047609C>TCA772165302BRCA1c.5467+34G>A (p.=)
c.5530+34G>A (p.=)
n.1854+34G>A
c.2041+34G>A (p.=)
c.*5250+34G>A (p.=)
c.2081+34G>A (p.=)
c.2155+34G>A (p.=)
c.5326+34G>A (p.=)
c.397+34G>A (p.=)
c.940+34G>A (p.=)
c.166+34G>A (p.=)
n.5603+34G>A
n.5644+34G>A
17g.43047612C>ACA626076257BRCA1c.5467+31G>T (p.=)
c.5530+31G>T (p.=)
n.1854+31G>T
c.2041+31G>T (p.=)
c.*5250+31G>T (p.=)
c.2081+31G>T (p.=)
c.2155+31G>T (p.=)
c.5326+31G>T (p.=)
c.397+31G>T (p.=)
c.940+31G>T (p.=)
c.166+31G>T (p.=)
n.5603+31G>T
n.5644+31G>T
gnomAD
17g.43047612C=CA2260761936BRCA1c.5467+31G= (p.=)
c.5530+31G= (p.=)
n.1854+31G=
c.2041+31G= (p.=)
c.*5250+31G= (p.=)
c.2081+31G= (p.=)
c.2155+31G= (p.=)
c.5326+31G= (p.=)
c.397+31G= (p.=)
c.940+31G= (p.=)
c.166+31G= (p.=)
n.5603+31G=
n.5644+31G=
17g.43047612_43047614delinsCATCA2260761937BRCA1c.5467+29_5467+31delinsATG (p.=)
c.5530+29_5530+31delinsATG (p.=)
n.1854+29_1854+31delinsATG
c.2041+29_2041+31delinsATG (p.=)
c.*5250+29_*5250+31delinsATG (p.=)
c.2081+29_2081+31delinsATG (p.=)
c.2155+29_2155+31delinsATG (p.=)
c.5326+29_5326+31delinsATG (p.=)
c.397+29_397+31delinsATG (p.=)
c.940+29_940+31delinsATG (p.=)
c.166+29_166+31delinsATG (p.=)
n.5603+29_5603+31delinsATG
n.5644+29_5644+31delinsATG
17g.43047616_43047617delCA2260761938BRCA1c.5467+29_5467+30del (p.=)
c.5530+29_5530+30del (p.=)
n.1854+29_1854+30del
c.2041+29_2041+30del (p.=)
c.*5250+29_*5250+30del (p.=)
c.2081+29_2081+30del (p.=)
c.2155+29_2155+30del (p.=)
c.5326+29_5326+30del (p.=)
c.397+29_397+30del (p.=)
c.940+29_940+30del (p.=)
c.166+29_166+30del (p.=)
n.5603+29_5603+30del
n.5644+29_5644+30del
dbSNP
17g.43047614T>GCA2260761940BRCA1c.5467+29A>C (p.=)
c.5530+29A>C (p.=)
n.1854+29A>C
c.2041+29A>C (p.=)
c.*5250+29A>C (p.=)
c.2081+29A>C (p.=)
c.2155+29A>C (p.=)
c.5326+29A>C (p.=)
c.397+29A>C (p.=)
c.940+29A>C (p.=)
c.166+29A>C (p.=)
n.5603+29A>C
n.5644+29A>C
17g.43047614T=CA2260761939BRCA1c.5467+29A= (p.=)
c.5530+29A= (p.=)
n.1854+29A=
c.2041+29A= (p.=)
c.*5250+29A= (p.=)
c.2081+29A= (p.=)
c.2155+29A= (p.=)
c.5326+29A= (p.=)
c.397+29A= (p.=)
c.940+29A= (p.=)
c.166+29A= (p.=)
n.5603+29A=
n.5644+29A=
17g.43047615A=CA2260761941BRCA1c.5467+28T= (p.=)
c.5530+28T= (p.=)
n.1854+28T=
c.2041+28T= (p.=)
c.*5250+28T= (p.=)
c.2081+28T= (p.=)
c.2155+28T= (p.=)
c.5326+28T= (p.=)
c.397+28T= (p.=)
c.940+28T= (p.=)
c.166+28T= (p.=)
n.5603+28T=
n.5644+28T=
17g.43047615A>GCA772165311BRCA1c.5467+28T>C (p.=)
c.5530+28T>C (p.=)
n.1854+28T>C
c.2041+28T>C (p.=)
c.*5250+28T>C (p.=)
c.2081+28T>C (p.=)
c.2155+28T>C (p.=)
c.5326+28T>C (p.=)
c.397+28T>C (p.=)
c.940+28T>C (p.=)
c.166+28T>C (p.=)
n.5603+28T>C
n.5644+28T>C
17g.43047617A=CA2260761942BRCA1c.5467+26T= (p.=)
c.5530+26T= (p.=)
n.1854+26T=
c.2041+26T= (p.=)
c.*5250+26T= (p.=)
c.2081+26T= (p.=)
c.2155+26T= (p.=)
c.5326+26T= (p.=)
c.397+26T= (p.=)
c.940+26T= (p.=)
c.166+26T= (p.=)
n.5603+26T=
n.5644+26T=
17g.43047617A>TCA2260761943BRCA1c.5467+26T>A (p.=)
c.5530+26T>A (p.=)
n.1854+26T>A
c.2041+26T>A (p.=)
c.*5250+26T>A (p.=)
c.2081+26T>A (p.=)
c.2155+26T>A (p.=)
c.5326+26T>A (p.=)
c.397+26T>A (p.=)
c.940+26T>A (p.=)
c.166+26T>A (p.=)
n.5603+26T>A
n.5644+26T>A
17g.43047618G>ACA916080721BRCA1c.5467+25C>T (p.=)
c.5530+25C>T (p.=)
n.1854+25C>T
c.2041+25C>T (p.=)
c.*5250+25C>T (p.=)
c.2081+25C>T (p.=)
c.2155+25C>T (p.=)
c.5326+25C>T (p.=)
c.397+25C>T (p.=)
c.940+25C>T (p.=)
c.166+25C>T (p.=)
n.5603+25C>T
n.5644+25C>T
ClinVar
17g.43047618G>CCA916080720BRCA1c.5467+25C>G (p.=)
c.5530+25C>G (p.=)
n.1854+25C>G
c.2041+25C>G (p.=)
c.*5250+25C>G (p.=)
c.2081+25C>G (p.=)
c.2155+25C>G (p.=)
c.5326+25C>G (p.=)
c.397+25C>G (p.=)
c.940+25C>G (p.=)
c.166+25C>G (p.=)
n.5603+25C>G
n.5644+25C>G
ClinVar
17g.43047618G=CA2260761944BRCA1c.5467+25C= (p.=)
c.5530+25C= (p.=)
n.1854+25C=
c.2041+25C= (p.=)
c.*5250+25C= (p.=)
c.2081+25C= (p.=)
c.2155+25C= (p.=)
c.5326+25C= (p.=)
c.397+25C= (p.=)
c.940+25C= (p.=)
c.166+25C= (p.=)
n.5603+25C=
n.5644+25C=
17g.43047619C>ACA916080724BRCA1c.5467+24G>T (p.=)
c.5530+24G>T (p.=)
n.1854+24G>T
c.2041+24G>T (p.=)
c.*5250+24G>T (p.=)
c.2081+24G>T (p.=)
c.2155+24G>T (p.=)
c.5326+24G>T (p.=)
c.397+24G>T (p.=)
c.940+24G>T (p.=)
c.166+24G>T (p.=)
n.5603+24G>T
n.5644+24G>T
ClinVar
17g.43047619C=CA2260761945BRCA1c.5467+24G= (p.=)
c.5530+24G= (p.=)
n.1854+24G=
c.2041+24G= (p.=)
c.*5250+24G= (p.=)
c.2081+24G= (p.=)
c.2155+24G= (p.=)
c.5326+24G= (p.=)
c.397+24G= (p.=)
c.940+24G= (p.=)
c.166+24G= (p.=)
n.5603+24G=
n.5644+24G=
17g.43047619C>GCA916080723BRCA1c.5467+24G>C (p.=)
c.5530+24G>C (p.=)
n.1854+24G>C
c.2041+24G>C (p.=)
c.*5250+24G>C (p.=)
c.2081+24G>C (p.=)
c.2155+24G>C (p.=)
c.5326+24G>C (p.=)
c.397+24G>C (p.=)
c.940+24G>C (p.=)
c.166+24G>C (p.=)
n.5603+24G>C
n.5644+24G>C
ClinVar
17g.43047619C>TCA916080722BRCA1c.5467+24G>A (p.=)
c.5530+24G>A (p.=)
n.1854+24G>A
c.2041+24G>A (p.=)
c.*5250+24G>A (p.=)
c.2081+24G>A (p.=)
c.2155+24G>A (p.=)
c.5326+24G>A (p.=)
c.397+24G>A (p.=)
c.940+24G>A (p.=)
c.166+24G>A (p.=)
n.5603+24G>A
n.5644+24G>A
ClinVar
17g.43047620A=CA2260761946BRCA1c.5467+23T= (p.=)
c.5530+23T= (p.=)
n.1854+23T=
c.2041+23T= (p.=)
c.*5250+23T= (p.=)
c.2081+23T= (p.=)
c.2155+23T= (p.=)
c.5326+23T= (p.=)
c.397+23T= (p.=)
c.940+23T= (p.=)
c.166+23T= (p.=)
n.5603+23T=
n.5644+23T=
17g.43047620A>CCA916080725BRCA1c.5467+23T>G (p.=)
c.5530+23T>G (p.=)
n.1854+23T>G
c.2041+23T>G (p.=)
c.*5250+23T>G (p.=)
c.2081+23T>G (p.=)
c.2155+23T>G (p.=)
c.5326+23T>G (p.=)
c.397+23T>G (p.=)
c.940+23T>G (p.=)
c.166+23T>G (p.=)
n.5603+23T>G
n.5644+23T>G
ClinVar
17g.43047620A>GCA916080726BRCA1c.5467+23T>C (p.=)
c.5530+23T>C (p.=)
n.1854+23T>C
c.2041+23T>C (p.=)
c.*5250+23T>C (p.=)
c.2081+23T>C (p.=)
c.2155+23T>C (p.=)
c.5326+23T>C (p.=)
c.397+23T>C (p.=)
c.940+23T>C (p.=)
c.166+23T>C (p.=)
n.5603+23T>C
n.5644+23T>C
ClinVar
17g.43047620A>TCA916080727BRCA1c.5467+23T>A (p.=)
c.5530+23T>A (p.=)
n.1854+23T>A
c.2041+23T>A (p.=)
c.*5250+23T>A (p.=)
c.2081+23T>A (p.=)
c.2155+23T>A (p.=)
c.5326+23T>A (p.=)
c.397+23T>A (p.=)
c.940+23T>A (p.=)
c.166+23T>A (p.=)
n.5603+23T>A
n.5644+23T>A
ClinVar
17g.43047621C>ACA916080728BRCA1c.5467+22G>T (p.=)
c.5530+22G>T (p.=)
n.1854+22G>T
c.2041+22G>T (p.=)
c.*5250+22G>T (p.=)
c.2081+22G>T (p.=)
c.2155+22G>T (p.=)
c.5326+22G>T (p.=)
c.397+22G>T (p.=)
c.940+22G>T (p.=)
c.166+22G>T (p.=)
n.5603+22G>T
n.5644+22G>T
ClinVar
17g.43047621C=CA2260761947BRCA1c.5467+22G= (p.=)
c.5530+22G= (p.=)
n.1854+22G=
c.2041+22G= (p.=)
c.*5250+22G= (p.=)
c.2081+22G= (p.=)
c.2155+22G= (p.=)
c.5326+22G= (p.=)
c.397+22G= (p.=)
c.940+22G= (p.=)
c.166+22G= (p.=)
n.5603+22G=
n.5644+22G=
17g.43047621C>GCA055087BRCA1c.5467+22G>C (p.=)
c.5530+22G>C (p.=)
n.1854+22G>C
c.2041+22G>C (p.=)
c.*5250+22G>C (p.=)
c.2081+22G>C (p.=)
c.2155+22G>C (p.=)
c.5326+22G>C (p.=)
c.397+22G>C (p.=)
c.940+22G>C (p.=)
c.166+22G>C (p.=)
n.5603+22G>C
n.5644+22G>C
ClinVar dbSNP ExAC gnomAD
17g.43047621C>TCA916080729BRCA1c.5467+22G>A (p.=)
c.5530+22G>A (p.=)
n.1854+22G>A
c.2041+22G>A (p.=)
c.*5250+22G>A (p.=)
c.2081+22G>A (p.=)
c.2155+22G>A (p.=)
c.5326+22G>A (p.=)
c.397+22G>A (p.=)
c.940+22G>A (p.=)
c.166+22G>A (p.=)
n.5603+22G>A
n.5644+22G>A
ClinVar
17g.43047622A=CA2260761948BRCA1c.5467+21T= (p.=)
c.5530+21T= (p.=)
n.1854+21T=
c.2041+21T= (p.=)
c.*5250+21T= (p.=)
c.2081+21T= (p.=)
c.2155+21T= (p.=)
c.5326+21T= (p.=)
c.397+21T= (p.=)
c.940+21T= (p.=)
c.166+21T= (p.=)
n.5603+21T=
n.5644+21T=
17g.43047622A>CCA916080730BRCA1c.5467+21T>G (p.=)
c.5530+21T>G (p.=)
n.1854+21T>G
c.2041+21T>G (p.=)
c.*5250+21T>G (p.=)
c.2081+21T>G (p.=)
c.2155+21T>G (p.=)
c.5326+21T>G (p.=)
c.397+21T>G (p.=)
c.940+21T>G (p.=)
c.166+21T>G (p.=)
n.5603+21T>G
n.5644+21T>G
ClinVar
17g.43047622A>GCA916080731BRCA1c.5467+21T>C (p.=)
c.5530+21T>C (p.=)
n.1854+21T>C
c.2041+21T>C (p.=)
c.*5250+21T>C (p.=)
c.2081+21T>C (p.=)
c.2155+21T>C (p.=)
c.5326+21T>C (p.=)
c.397+21T>C (p.=)
c.940+21T>C (p.=)
c.166+21T>C (p.=)
n.5603+21T>C
n.5644+21T>C
ClinVar
17g.43047622A>TCA916080732BRCA1c.5467+21T>A (p.=)
c.5530+21T>A (p.=)
n.1854+21T>A
c.2041+21T>A (p.=)
c.*5250+21T>A (p.=)
c.2081+21T>A (p.=)
c.2155+21T>A (p.=)
c.5326+21T>A (p.=)
c.397+21T>A (p.=)
c.940+21T>A (p.=)
c.166+21T>A (p.=)
n.5603+21T>A
n.5644+21T>A
ClinVar
17g.43047622dupCA626076259BRCA1c.5467+21dup (p.=)
c.5530+21dup (p.=)
n.1854+21dup
c.2041+21dup (p.=)
c.*5250+21dup (p.=)
c.2081+21dup (p.=)
c.2155+21dup (p.=)
c.5326+21dup (p.=)
c.397+21dup (p.=)
c.940+21dup (p.=)
c.166+21dup (p.=)
n.5603+21dup
n.5644+21dup
dbSNP gnomAD
17g.43047623G>ACA916080733BRCA1c.5467+20C>T (p.=)
c.5530+20C>T (p.=)
n.1854+20C>T
c.2041+20C>T (p.=)
c.*5250+20C>T (p.=)
c.2081+20C>T (p.=)
c.2155+20C>T (p.=)
c.5326+20C>T (p.=)
c.397+20C>T (p.=)
c.940+20C>T (p.=)
c.166+20C>T (p.=)
n.5603+20C>T
n.5644+20C>T
ClinVar
17g.43047623G>CCA916080734BRCA1c.5467+20C>G (p.=)
c.5530+20C>G (p.=)
n.1854+20C>G
c.2041+20C>G (p.=)
c.*5250+20C>G (p.=)
c.2081+20C>G (p.=)
c.2155+20C>G (p.=)
c.5326+20C>G (p.=)
c.397+20C>G (p.=)
c.940+20C>G (p.=)
c.166+20C>G (p.=)
n.5603+20C>G
n.5644+20C>G
ClinVar
17g.43047623G=CA2260761949BRCA1c.5467+20C= (p.=)
c.5530+20C= (p.=)
n.1854+20C=
c.2041+20C= (p.=)
c.*5250+20C= (p.=)
c.2081+20C= (p.=)
c.2155+20C= (p.=)
c.5326+20C= (p.=)
c.397+20C= (p.=)
c.940+20C= (p.=)
c.166+20C= (p.=)
n.5603+20C=
n.5644+20C=
17g.43047623G>TCA916080735BRCA1c.5467+20C>A (p.=)
c.5530+20C>A (p.=)
n.1854+20C>A
c.2041+20C>A (p.=)
c.*5250+20C>A (p.=)
c.2081+20C>A (p.=)
c.2155+20C>A (p.=)
c.5326+20C>A (p.=)
c.397+20C>A (p.=)
c.940+20C>A (p.=)
c.166+20C>A (p.=)
n.5603+20C>A
n.5644+20C>A
ClinVar

Number of alleles fetched